Sample records for inbreeding coefficient fis

  1. Sporophytic self-incompatibility genes and mating system variation in Arabis alpina.

    PubMed

    Tedder, A; Ansell, S W; Lao, X; Vogel, J C; Mable, B K

    2011-09-01

    Sporophytic self-incompatibility (SI) prevents inbreeding in many members of the Brassicaceae, and has been well documented in a variety of high-profile species. Arabis alpina is currently being developed as a model system for studying the ecological genetics of arctic-alpine environments, and is the focus of numerous studies on population structure and alpine phylogeography. Although it is highly inbreeding throughout most of its range, populations in central Italy have been identified that show inbreeding coefficients (F(IS)) more typical of self-incompatible relatives. The purpose of this study was to establish whether this variation is due to a functioning SI system. Outcrossing rate estimates were calculated based on 16 allozyme loci and self-compatibility assessed based on controlled pollinations for six Italian populations that have previously been shown to vary in F(IS) values. Putative SRK alleles (the gene controlling the female component of SI in other Brassicaceae) amplified from A. alpina were compared with those published for other species. Linkage of putative SRK alleles and SI phenotypes was assessed using a diallel cross. Functional avoidance of inbreeding is demonstrated in three populations of A. alpina, corresponding with previous F(IS) values. The presence is described of 15 putative SRK-like alleles, which show high sequence identity to known alleles from Brassica and Arabidopsis and the high levels of synonymous and nonsynonymous variation typical of genes under balancing selection. Also, orthologues of two other members of the S-receptor kinase gene family, Aly8 (ARK3) and Aly9 (AtS1) are identified. Further to this, co-segregation between some of the putative S-alleles and compatibility phenotypes was demonstrated using a full-sibling cross design. The results strongly suggest that, as with other species in the Brassicaceae, A. alpina has a sporophytic SI system but shows variation in the strength of SI within and between populations.

  2. Sporophytic self-incompatibility genes and mating system variation in Arabis alpina

    PubMed Central

    Tedder, A.; Ansell, S. W.; Lao, X.; Vogel, J. C.; Mable, B. K.

    2011-01-01

    Background and Aims Sporophytic self-incompatibility (SI) prevents inbreeding in many members of the Brassicaceae, and has been well documented in a variety of high-profile species. Arabis alpina is currently being developed as a model system for studying the ecological genetics of arctic–alpine environments, and is the focus of numerous studies on population structure and alpine phylogeography. Although it is highly inbreeding throughout most of its range, populations in central Italy have been identified that show inbreeding coefficients (FIS) more typical of self-incompatible relatives. The purpose of this study was to establish whether this variation is due to a functioning SI system. Methods Outcrossing rate estimates were calculated based on 16 allozyme loci and self-compatibility assessed based on controlled pollinations for six Italian populations that have previously been shown to vary in FIS values. Putative SRK alleles (the gene controlling the female component of SI in other Brassicaceae) amplified from A. alpina were compared with those published for other species. Linkage of putative SRK alleles and SI phenotypes was assessed using a diallel cross. Key Results Functional avoidance of inbreeding is demonstrated in three populations of A. alpina, corresponding with previous FIS values. The presence is described of 15 putative SRK-like alleles, which show high sequence identity to known alleles from Brassica and Arabidopsis and the high levels of synonymous and nonsynonymous variation typical of genes under balancing selection. Also, orthologues of two other members of the S-receptor kinase gene family, Aly8 (ARK3) and Aly9 (AtS1) are identified. Further to this, co-segregation between some of the putative S-alleles and compatibility phenotypes was demonstrated using a full-sibling cross design. Conclusions The results strongly suggest that, as with other species in the Brassicaceae, A. alpina has a sporophytic SI system but shows variation in the strength of SI within and between populations. PMID:21821832

  3. Genetics, evolution and conservation of Bromeliaceae

    PubMed Central

    Zanella, Camila M.; Janke, Aline; Palma-Silva, Clarisse; Kaltchuk-Santos, Eliane; Pinheiro, Felipe G.; Paggi, Gecele M.; Soares, Luis E.S.; Goetze, Márcia; Büttow, Miriam V.; Bered, Fernanda

    2012-01-01

    Bromeliaceae is a morphologically distinctive and ecologically diverse family originating in the New World. Three centers of diversity, 58 genera, and about 3,140 bromeliad species are currently recognized. We compiled all of the studies related to the reproductive biology, genetic diversity, and population structure of the Bromeliaceae, and discuss the evolution and conservation of this family. Bromeliads are preferentially pollinated by vertebrates and show marked variation in breeding systems, from predominant inbreeding to predominant outcrossing, as well as constancy in chromosome number (2n = 2x = 50). Autogamous or mixed mating system bromeliads have a high inbreeding coefficient (FIS), while outcrossing species show low FIS. The degree of differentiation among populations (FST)of species ranges from 0.043 to 0.961, which can be influenced by pollen and seed dispersal effects, clonal growth, gene flow rates, and connectivity among populations. The evolutionary history of the Bromeliaceae is poorly known, although some studies have indicated that the family arose in the Guayana Shield roughly 100 Mya. We believe that genetic, cytogenetic, and reproductive data will be essential for diagnosing species status and for assisting conservation programs. PMID:23412953

  4. [Genetic isolates and inbreeding customs in three rural municipalities from Honduras].

    PubMed

    Herrera-Paz, Edwin Francisco

    2016-01-01

    The isonymic method has been amply used to assess the approximate genetic structure of human communities. The objective of the study was to evaluate the magnitude of genetic isolation and inbreeding customs in 57 communities from three rural municipalities of Honduras using isonymy techniques. The list of 408 different surnames from 20712 voters registered in the national electoral organism, residing in the 57 Honduran communities, was used for this study. For each community, random (IR), non-random (IN), and total (IT) isonymy values were calculated in order to assess inbreeding coefficients FST, FIS and FIT. High consanguinity due to isolation and to endogamous customs was unveiled in many communities. Significant deviation from the exogamous behavior typical of many human populations was observed in the three studied municipalities, when compared to other Honduran populations. The studied communities present high consanguinity due to isolation, ethnic segregation and/or endogamous customs.

  5. Determination of genetic polymorphism in Guney Karaman local Turkish sheep breed by using STR markers

    NASA Astrophysics Data System (ADS)

    Karslı, Taki; Balcıoǧlu, Murat Soner

    2017-04-01

    The objective of this study was to assess genetic diversity of Güney Karaman Turkish local sheep breed. A total of 29 samples were genotyped by using 14 STR markers. All markers were polymorphic. The number of alleles in Güney Karaman sheep breed ranged from 3 to 11 per locus, with a mean of 7.42. The average observed and expected heterozygosity was 0.659 and 0.794, respectively. Mean inbreeding coefficient (Fis) value was found 0.175. The PIC values ranged from 0.569 to 0.860 with a mean of 0.743. The findings of this research demonstrate at moderate level gene diversity and heterozygosity with lower inbreeding in Güney Karaman sheep breed.

  6. Surnames in Honduras: A study of the population of Honduras through isonymy.

    PubMed

    Herrera Paz, Edwin Francisco; Scapoli, Chiara; Mamolini, Elisabetta; Sandri, Massimo; Carrieri, Alberto; Rodriguez-Larralde, Alvaro; Barrai, Italo

    2014-05-01

    In this work, we investigated surname distribution in 4,348,021 Honduran electors with the aim of detecting population structure through the study of isonymy in three administrative levels: the whole nation, the 18 departments, and the 298 municipalities. For each administrative level, we studied the surname effective number, α, the total inbreeding, FIT , the random inbreeding, FST , and the local inbreeding, FIS . Principal components analysis, multidimensional scaling, and cluster analysis were performed on Lasker's distance matrix to detect the direction of surname diffusion and for a graphic representation of the surname relationship between different locations. The values of FIT , FST , and FIS display a variation of random inbreeding between the administrative levels in the Honduras population, which is attributed to the "Prefecture effect." Multivariate analyses of department data identified two main clusters, one south-western and the second north-eastern, with the Bay Islands and the eastern Gracias a Dios out of the main clusters. The results suggest that currently the population structure of this country is the result of the joint action of short-range directional migration and drift, with drift dominating over migration, and that population diffusion may have taken place mainly in the NW-SE direction. © 2014 John Wiley & Sons Ltd/University College London.

  7. Inbreeding and road effect zone in a Ranidae: the case of Agile frog, Rana dalmatina Bonaparte, 1840.

    PubMed

    Lesbarrères, David; Pagano, Alain; Lodé, Thierry

    2003-08-01

    Inbreeding has often been invoked in the extinction of local populations. In eleven western France populations of Agile frog studied, observed heterozygosity was significantly lower than expected in all cases, giving new evidence of such a depression in small populations. It especially occurred in ponds located near an highway rather than in undisturbed populations (FIS = 0.544 and 0.315, respectively). Thus, our results argue for a "road effect zone". Discussing about road distance and conservation policies, we propose that roads are directly involved in inbreeding and in local extinction. Thus, road construction ought to consider conservation management.

  8. Inbreeding avoidance under different null models of random mating in the great tit.

    PubMed

    Szulkin, Marta; Zelazowski, Przemyslaw; Nicholson, George; Sheldon, Ben C

    2009-07-01

    1. In populations where inbreeding causes a substantial decrease in fitness, selection is expected to favour the evolution of inbreeding avoidance behaviours. Elsewhere we have documented substantial inbreeding depression and the importance of dispersal in avoiding inbreeding in a long-term population study of the great tit Parus major in Wytham (UK). In this study, we ask whether individuals from this population actively avoid mating with kin. 2. We generated four contrasting models of random mate choice that assumed varying levels of mate availability in each year of the data set. This allowed us to compare observed and simulated distributions and frequencies of inbreeding coefficients from 41 years of breeding data. 3. We found no evidence that birds avoid mating with related partners. Our results show that birds breed more often with relatives than expected under null models of mate choice that lack population structure, but not when compared to scenarios where birds were mated with their nearest neighbours. Pedigree-derived F(IS) values were positive for all scenarios of random mating, confirming the lack of inbreeding avoidance in this population. 4. These results imply the existence of spatial genetic structure where related individuals occur closer together than nonrelated individuals while breeding, and suggest that the relatedness between breeding individuals of the opposite sex decreases with distance. Thus, while dispersal from the natal site decreases the number of relatives around an individual, it does not completely homogenize genetic structure. 5. We show that brother-sister pairs are observed more often than under any scenario of random mating, suggesting that not only birds do not avoid mating with kin, but also that the apparently maladaptive choice of mating with a sibling is made more often than expected. 6. Our results provide no evidence to suggest that individuals actively avoid kin. In fact, some types of inbreeding occur more often than expected, despite the substantial fitness costs. The observed lack of inbreeding avoidance is in agreement with other studies of non-cooperatively breeding passerine birds, although the higher than expected frequency of sibling mating remains a puzzling result.

  9. Isolation and characterization of 10 microsatellite loci in Cneorum tricoccon (Cneoraceae), a Mediterranean relict plant.

    PubMed

    García-Fernández, Alfredo; Lázaro-Nogal, Ana; Traveset, Anna; Valladares, Fernando

    2012-08-01

    The main aim of this study was to isolate and characterize microsatellite loci in Cneorum tricoccon (Cneoraceae), a Mediterranean shrub relict of the early Tertiary, which inhabits western Mediterranean islands and coasts. Microsatellites will be useful for investigating biogeography and landscape genetics across the species distribution range, including current or past gene flow. Seventeen microsatellite loci were characterized, of which 10 were polymorphic and amplified for a total of 56 alleles in three populations of C. tricoccon. The markers revealed average coefficients of expected heterozygosity (H(e) = 0.425), observed heterozygosity (H(o) = 0.282), and inbreeding coefficient value per population (F(IS) = 0.408). These microsatellite primers will potentially be useful in the study of population and landscape genetics, conservation status of isolated populations, island-continental distribution, current or historical movements between populations, and in the investigation of the consequences of dispersal mechanisms of these plants.

  10. The genealogy and genetic viability of reintroduced Yellowstone grey wolves.

    PubMed

    Vonholdt, Bridgett M; Stahler, Daniel R; Smith, Douglas W; Earl, Dent A; Pollinger, John P; Wayne, Robert K

    2008-01-01

    The recovery of the grey wolf in Yellowstone National Park is an outstanding example of a successful reintroduction. A general question concerning reintroduction is the degree to which genetic variation has been preserved and the specific behavioural mechanisms that enhance the preservation of genetic diversity and reduce inbreeding. We have analysed 200 Yellowstone wolves, including all 31 founders, for variation in 26 microsatellite loci over the 10-year reintroduction period (1995-2004). The population maintained high levels of variation (1995 H(0) = 0.69; 2004 H(0) = 0.73) with low levels of inbreeding (1995 F(IS) = -0.063; 2004 F(IS) = -0.051) and throughout, the population expanded rapidly (N(1995) = 21; N(2004) = 169). Pedigree-based effective population size ratios did not vary appreciably over the duration of population expansion (1995 N(e)/N(g) = 0.29; 2000 N(e)/N(g) = 0.26; 2004 N(e)/N(g) = 0.33). We estimated kinship and found only two of 30 natural breeding pairs showed evidence of being related (average r = -0.026, SE = 0.03). We reconstructed the genealogy of 200 wolves based on genetic and field data and discovered that they avoid inbreeding through a wide variety of behavioural mechanisms including absolute avoidance of breeding with related pack members, male-biased dispersal to packs where they breed with nonrelatives, and female-biased subordinate breeding. We documented a greater diversity of such population assembly patterns in Yellowstone than previously observed in any other natural wolf population. Inbreeding avoidance is nearly absolute despite the high probability of within-pack inbreeding opportunities and extensive interpack kinship ties between adjacent packs. Simulations showed that the Yellowstone population has levels of genetic variation similar to that of a population managed for high variation and low inbreeding, and greater than that expected for random breeding within packs or across the entire breeding pool. Although short-term losses in variation seem minimal, future projections of the population at carrying capacity suggest significant inbreeding depression will occur without connectivity and migratory exchange with other populations.

  11. Temporal dynamics of genetic variability in a mountain goat (Oreamnos americanus) population.

    PubMed

    Ortego, Joaquín; Yannic, Glenn; Shafer, Aaron B A; Mainguy, Julien; Festa-Bianchet, Marco; Coltman, David W; Côté, Steeve D

    2011-04-01

    The association between population dynamics and genetic variability is of fundamental importance for both evolutionary and conservation biology. We combined long-term population monitoring and molecular genetic data from 123 offspring and their parents at 28 microsatellite loci to investigate changes in genetic diversity over 14 cohorts in a small and relatively isolated population of mountain goats (Oreamnos americanus) during a period of demographic increase. Offspring heterozygosity decreased while parental genetic similarity and inbreeding coefficients (F(IS) ) increased over the study period (1995-2008). Immigrants introduced three novel alleles into the population and matings between residents and immigrants produced more heterozygous offspring than local crosses, suggesting that immigration can increase population genetic variability. The population experienced genetic drift over the study period, reflected by a reduced allelic richness over time and an 'isolation-by-time' pattern of genetic structure. The temporal decline of individual genetic diversity despite increasing population size probably resulted from a combination of genetic drift due to small effective population size, inbreeding and insufficient counterbalancing by immigration. This study highlights the importance of long-term genetic monitoring to understand how demographic processes influence temporal changes of genetic diversity in long-lived organisms. © 2011 Blackwell Publishing Ltd.

  12. Habitat fragmentation causes bottlenecks and inbreeding in the European tree frog (Hyla arborea).

    PubMed Central

    Andersen, Liselotte W.; Fog, Kåre; Damgaard, Christian

    2004-01-01

    A genetic study of the European tree frog, Hyla arborea, in Denmark was undertaken to examine the population structure on mainland Jutland and the island of Lolland after a period of reduction in suitable habitat and population sizes. The two regions have experienced the same rate of habitat loss but fragmentation has been more severe on Lolland. Genetic variation based on 12 polymorphic DNA microsatellites was analysed in 494 tree frogs sampled from two ponds in Jutland and 10 ponds on Lolland. A significant overall deviation from Hardy-Weinberg expectations could be attributed to three ponds, all on Lolland. This was most probably caused by an inbreeding effect reducing fitness, which was supported by the observed significant negative correlation between larva survival and mean F(IS) value and mean individual inbreeding coefficient. A significant reduction in genetic variation (bottleneck) was detected in most of the ponds on Lolland. Population-structure analysis suggested the existence of at least 11 genetically different populations, corresponding to most of the sampled population units. The results indicated that the populations were unique genetic units and could be used to illustrate the migration pattern between newly established ponds arisen either by natural colonization of tree frogs or by artificial introduction. A high degree of pond fidelity in the tree frogs was suggested. A severe fragmentation process reducing population size and fitness within some of the populations probably caused the significant reduction in genetic variation of tree frog populations on Lolland. PMID:15306354

  13. Inbreeding depression across the lifespan in a wild mammal population

    PubMed Central

    Huisman, Jisca; Kruuk, Loeske E. B.; Ellis, Philip A.; Clutton-Brock, Tim; Pemberton, Josephine M.

    2016-01-01

    Inbreeding depression is of major concern for the conservation of threatened species, and inbreeding avoidance is thought to be a key driver in the evolution of mating systems. However, the estimation of individual inbreeding coefficients in natural populations has been challenging, and, consequently, the full effect of inbreeding on fitness remains unclear. Genomic inbreeding coefficients may resolve the long-standing paucity of data on inbreeding depression in adult traits and total fitness. Here we investigate inbreeding depression in a range of life history traits and fitness in a wild population of red deer (Cervus elaphus) in Scotland using individual inbreeding coefficients derived from dense Single-Nucleotide Polymorphism (SNP) data (Fgrm). We find associations between Fgrm and annual breeding success in both sexes, and between maternal inbreeding coefficient and offspring survival. We also confirm previous findings of inbreeding depression in birth weight and juvenile survival. In contrast, inbreeding coefficients calculated from a deep and comparatively complete pedigree detected inbreeding depression in juvenile survival, but not in any adult fitness component. The total effect of inbreeding on lifetime breeding success (LBS) was substantial in both sexes: for Fgrm =0.125, a value resulting from a half-sib mating, LBS declined by 72% for females and 95% for males. Our results demonstrate that SNP-based estimates of inbreeding provide a powerful tool for evaluating inbreeding depression in natural populations, and suggest that, to date, the prevalence of inbreeding depression in adult traits may have been underestimated. PMID:26979959

  14. Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease.

    PubMed

    Vardarajan, Badri N; Schaid, Daniel J; Reitz, Christiane; Lantigua, Rafael; Medrano, Martin; Jiménez-Velázquez, Ivonne Z; Lee, Joseph H; Ghani, Mahdi; Rogaeva, Ekaterina; St George-Hyslop, Peter; Mayeux, Richard P

    2015-08-01

    Inbreeding can be associated with a modification of disease risk due to excess homozygosity of recessive alleles affecting a wide range of phenotypes. We estimated the inbreeding coefficient in Caribbean Hispanics and examined its effects on risk of late-onset Alzheimer disease. The inbreeding coefficient was calculated in 3,392 subjects (1,451 late-onset Alzheimer disease patients and 1,941 age-matched healthy controls) of Caribbean Hispanic ancestry using 177,997 nearly independent single-nucleotide polymorphisms from genome-wide array. The inbreeding coefficient was estimated using the excess homozygosity method with and without adjusting for admixture. The average inbreeding coefficient in Caribbean Hispanics without accounting for admixture was F = 0.018 (±0.048), suggesting a mating equivalent to that of second cousins or second cousins once removed. Adjusting for admixture from three parent populations, the average inbreeding coefficient was found to be 0.0034 (±0.019) or close to third-cousin mating. Inbreeding coefficient was a significant predictor of Alzheimer disease when age, sex, and APOE genotype were used as adjusting covariates (P = 0.03). The average inbreeding coefficient of this population is significantly higher than that of the general Caucasian populations in North America. The high rate of inbreeding resulting in increased frequency of recessive variants is advantageous for the identification of rare variants associated with late-onset Alzheimer disease.Genet Med 17 8, 639-643.

  15. Relationship between the magnitude of the inbreeding coefficient and milk traits in Holstein and Jersey dairy bull semen used in Brazil.

    PubMed

    Soares, M P; Gaya, L G; Lorentz, L H; Batistel, F; Rovadoscki, G A; Ticiani, E; Zabot, V; Di Domenico, Q; Madureira, A P; Pértile, S F N

    2011-09-06

    Artificial insemination has been used to improve production in Brazilian dairy cattle; however, this can lead to problems due to increased inbreeding. To evaluate the effect of the magnitude of inbreeding coefficients on predicted transmitting abilities (PTAs) for milk traits of Holstein and Jersey breeds, data on 392 Holstein and 92 Jersey sires used in Brazil were tabulated. The second-degree polynomial equations and points of maximum or minimal response were estimated to establish the regression equation of the variables as a function of the inbreeding coefficients. The mean inbreeding coefficient of the Holstein bulls was 5.10%; this did not significantly affect the PTA for percent milk fat, protein percentage and protein (P = 0.479, 0.058 and 0.087, respectively). However, the PTAs for milk yield and fat decreased significantly after reaching inbreeding coefficients of 6.43 (P = 0.034) and 5.75 (P = 0.007), respectively. The mean inbreeding coefficient of Jersey bulls was 6.45%; the PTAs for milk yield, fat and protein, in pounds, decreased significantly after reaching inbreeding coefficients of 15.04, 9.83 and 12.82% (P < 0.001, P = 0.002, and P = 0.001, respectively). The linear regression was only significant for fat and protein percentages in the Jersey breed (P = 0.002 and P = 0.005, respectively). The PTAs of Holstein sires were more affected by smaller magnitudes of inbreeding coefficients than those of Jersey sires. It is necessary to monitor the inbreeding coefficients of sires used for artificial insemination in breeding schemes in Brazil, since the low genetic variability of the available sires may lead to reduced production.

  16. Natal dispersal and genetic structure in a population of the European wild rabbit (Oryctolagus cuniculus).

    PubMed

    Webb, N J; Ibrahim, K M; Bell, D J; Hewitt, G M

    1995-04-01

    A combination of behavioural observation, DNA fingerprinting, and allozyme analysis were used to examine natal dispersal in a wild rabbit population. Rabbits lived in territorial, warren based social groups. Over a 6-year period, significantly more male than female rabbits moved to a new social group before the start of their first breeding season. This pattern of female philopatry and male dispersal was reflected in the genetic structure of the population. DNA fingerprint band-sharing coefficients were significantly higher for females within the same group than for females between groups, while this was not the case for males. Wright's inbreeding coefficients were calculated from fingerprint band-sharing values and compared to those obtained from allozyme data. There was little correlation between the relative magnitudes of the F-statistics calculated using the two techniques for comparisons between different social groups. In contrast, two alternative methods for calculating FST from DNA fingerprints gave reasonably concordant values although those based on band-sharing were consistently lower than those calculated by an 'allele' frequency approach. A negative FIS value was obtained from allozyme data. Such excess heterozygosity within social groups is expected even under random mating given the social structure and sex-biased dispersal but it is argued that the possibility of behavioural avoidance of inbreeding should not be discounted in this species. Estimates of genetic differentiation obtained from allozyme and DNA fingerprint data agreed closely with reported estimates for the yellow-bellied marmot, a species with a very similar social structure to the European rabbit.

  17. Predictive Model and Software for Inbreeding-Purging Analysis of Pedigreed Populations

    PubMed Central

    García-Dorado, Aurora; Wang, Jinliang; López-Cortegano, Eugenio

    2016-01-01

    The inbreeding depression of fitness traits can be a major threat to the survival of populations experiencing inbreeding. However, its accurate prediction requires taking into account the genetic purging induced by inbreeding, which can be achieved using a “purged inbreeding coefficient”. We have developed a method to compute purged inbreeding at the individual level in pedigreed populations with overlapping generations. Furthermore, we derive the inbreeding depression slope for individual logarithmic fitness, which is larger than that for the logarithm of the population fitness average. In addition, we provide a new software, PURGd, based on these theoretical results that allows analyzing pedigree data to detect purging, and to estimate the purging coefficient, which is the parameter necessary to predict the joint consequences of inbreeding and purging. The software also calculates the purged inbreeding coefficient for each individual, as well as standard and ancestral inbreeding. Analysis of simulation data show that this software produces reasonably accurate estimates for the inbreeding depression rate and for the purging coefficient that are useful for predictive purposes. PMID:27605515

  18. When genes move farther than offspring: gene flow by male gamete dispersal in the highly philopatric bat species Thyroptera tricolor.

    PubMed

    Buchalski, M R; Chaverri, G; Vonhof, M J

    2014-02-01

    For species characterized by philopatry of both sexes, mate selection represents an important behaviour for inbreeding avoidance, yet the implications for gene flow are rarely quantified. Here, we present evidence of male gamete-mediated gene flow resulting from extra-group mating in Spix's disc-winged bat, Thyroptera tricolor, a species which demonstrates all-offspring philopatry. We used microsatellite and capture-recapture data to characterize social group structure and the distribution of mated pairs at two sites in southwestern Costa Rica over four breeding seasons. Relatedness and genetic spatial autocorrelation analyses indicated strong kinship within groups and over short distances (<50 m), resulting from matrilineal group structure and small roosting home ranges (~0.2 ha). Despite high relatedness among-group members, observed inbreeding coefficients were low (FIS  = 0.010 and 0.037). Parentage analysis indicated mothers and offspring belonged to the same social group, while fathers belonged to different groups, separated by large distances (~500 m) when compared to roosting home ranges. Simulated random mating indicated mate choice was not based on intermediate levels of relatedness, and mated pairs were less related than adults within social groups on average. Isolation-by-distance (IBD) models of genetic neighbourhood area based on father-offspring distances provided direct estimates of mean gamete dispersal distances (r^) > 10 roosting home range equivalents. Indirect estimates based on genetic distance provided even larger estimates of r^, indicating direct estimates were biased low. These results suggest extra-group mating reduces the incidence of inbreeding in T. tricolor, and male gamete dispersal facilitates gene flow in lieu of natal dispersal of young. © 2013 John Wiley & Sons Ltd.

  19. Statistical and population genetics issues of two Hungarian datasets from the aspect of DNA evidence interpretation.

    PubMed

    Szabolcsi, Zoltán; Farkas, Zsuzsa; Borbély, Andrea; Bárány, Gusztáv; Varga, Dániel; Heinrich, Attila; Völgyi, Antónia; Pamjav, Horolma

    2015-11-01

    When the DNA profile from a crime-scene matches that of a suspect, the weight of DNA evidence depends on the unbiased estimation of the match probability of the profiles. For this reason, it is required to establish and expand the databases that reflect the actual allele frequencies in the population applied. 21,473 complete DNA profiles from Databank samples were used to establish the allele frequency database to represent the population of Hungarian suspects. We used fifteen STR loci (PowerPlex ESI16) including five, new ESS loci. The aim was to calculate the statistical, forensic efficiency parameters for the Databank samples and compare the newly detected data to the earlier report. The population substructure caused by relatedness may influence the frequency of profiles estimated. As our Databank profiles were considered non-random samples, possible relationships between the suspects can be assumed. Therefore, population inbreeding effect was estimated using the FIS calculation. The overall inbreeding parameter was found to be 0.0106. Furthermore, we tested the impact of the two allele frequency datasets on 101 randomly chosen STR profiles, including full and partial profiles. The 95% confidence interval estimates for the profile frequencies (pM) resulted in a tighter range when we used the new dataset compared to the previously published ones. We found that the FIS had less effect on frequency values in the 21,473 samples than the application of minimum allele frequency. No genetic substructure was detected by STRUCTURE analysis. Due to the low level of inbreeding effect and the high number of samples, the new dataset provides unbiased and precise estimates of LR for statistical interpretation of forensic casework and allows us to use lower allele frequencies. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  20. Individual Identification and Genetic Variation of Lions (Panthera leo) from Two Protected Areas in Nigeria

    PubMed Central

    Tende, Talatu; Hansson, Bengt; Ottosson, Ulf; Åkesson, Mikael; Bensch, Staffan

    2014-01-01

    This survey was conducted in two protected areas in Nigeria to genetically identify individual lions and to determine the genetic variation within and between the populations. We used faecal sample DNA, a non-invasive alternative to the risky and laborious task of taking samples directly from the animals, often preceded by catching and immobilization. Data collection in Yankari Game Reserve (YGR) spanned through a period of five years (2008 –2012), whereas data in Kainji Lake National Park (KLNP) was gathered for a period of three years (2009, 2010 and 2012). We identified a minimum of eight individuals (2 males, 3 females, 3 unknown) from YGR and a minimum of ten individuals (7 males, 3 females) from KLNP. The two populations were found to be genetically distinct as shown by the relatively high fixation index (FST  = 0.17) with each population exhibiting signs of inbreeding (YGR FIS  = 0.49, KLNP FIS  = 0.38). The genetic differentiation between the Yankari and Kainji lions is assumed to result from large spatial geographic distance and physical barriers reducing gene flow between these two remaining wild lion populations in Nigeria. To mitigate the probable inbreeding depression in the lion populations within Nigeria it might be important to transfer lions between parks or reserves or to reintroduce lions from the zoos back to the wild. PMID:24427283

  1. Individual identification and genetic variation of lions (Panthera leo) from two protected areas in Nigeria.

    PubMed

    Tende, Talatu; Hansson, Bengt; Ottosson, Ulf; Akesson, Mikael; Bensch, Staffan

    2014-01-01

    This survey was conducted in two protected areas in Nigeria to genetically identify individual lions and to determine the genetic variation within and between the populations. We used faecal sample DNA, a non-invasive alternative to the risky and laborious task of taking samples directly from the animals, often preceded by catching and immobilization. Data collection in Yankari Game Reserve (YGR) spanned through a period of five years (2008 -2012), whereas data in Kainji Lake National Park (KLNP) was gathered for a period of three years (2009, 2010 and 2012). We identified a minimum of eight individuals (2 males, 3 females, 3 unknown) from YGR and a minimum of ten individuals (7 males, 3 females) from KLNP. The two populations were found to be genetically distinct as shown by the relatively high fixation index (FST  = 0.17) with each population exhibiting signs of inbreeding (YGR FIS  = 0.49, KLNP FIS  = 0.38). The genetic differentiation between the Yankari and Kainji lions is assumed to result from large spatial geographic distance and physical barriers reducing gene flow between these two remaining wild lion populations in Nigeria. To mitigate the probable inbreeding depression in the lion populations within Nigeria it might be important to transfer lions between parks or reserves or to reintroduce lions from the zoos back to the wild.

  2. Genetic variability and founder effect in the pitcher plant Sarracenia purpurea (Sarraceniaceae) in populations introduced into Switzerland: from inbreeding to invasion.

    PubMed

    Parisod, Christian; Trippi, Charlotte; Galland, Nicole

    2005-01-01

    The long-lived and mainly outcrossing species Sarracenia purpurea has been introduced into Switzerland and become invasive. This creates the opportunity to study reactions to founder effect and how a species can circumvent deleterious effects of bottlenecks such as reduced genetic diversity, inbreeding and extinction through mutational meltdown, to emerge as a highly invasive plant. A population genetic survey by random amplified polymorphism DNA markers (RAPD) together with historical insights and a field pollination experiment were carried out. At the regional scale, S. purpurea shows low structure (thetast=0.072) due to a recent founder event and important subsequent growth. Nevertheless, multivariate statistical analyses reveal that, because of a bottleneck that shifted allele frequencies, most of the variability is independent among populations. In one population (Tenasses) the species has become invasive and genetic analysis reveals restricted gene flow and family structure (thetast=0.287). Although inbreeding appears to be high (Fis >0.410 from a Bayesian estimation), a field pollination experiment failed to detect significant inbreeding depression upon F1 seed number and seed weight fitness-traits. Furthermore, crosses between unrelated individuals produced F1 seeds with significantly reduced fitness, thus showing local outbreeding depression. The results suggest that, under restricted gene flow among families, the species may not only have rapidly purged deleterious alleles, but also have undergone some form of selection for inbreeding due to co-adaptation between loci.

  3. The effect of rare alleles on estimated genomic relationships from whole genome sequence data.

    PubMed

    Eynard, Sonia E; Windig, Jack J; Leroy, Grégoire; van Binsbergen, Rianne; Calus, Mario P L

    2015-03-12

    Relationships between individuals and inbreeding coefficients are commonly used for breeding decisions, but may be affected by the type of data used for their estimation. The proportion of variants with low Minor Allele Frequency (MAF) is larger in whole genome sequence (WGS) data compared to Single Nucleotide Polymorphism (SNP) chips. Therefore, WGS data provide true relationships between individuals and may influence breeding decisions and prioritisation for conservation of genetic diversity in livestock. This study identifies differences between relationships and inbreeding coefficients estimated using pedigree, SNP or WGS data for 118 Holstein bulls from the 1000 Bull genomes project. To determine the impact of rare alleles on the estimates we compared three scenarios of MAF restrictions: variants with a MAF higher than 5%, variants with a MAF higher than 1% and variants with a MAF between 1% and 5%. We observed significant differences between estimated relationships and, although less significantly, inbreeding coefficients from pedigree, SNP or WGS data, and between MAF restriction scenarios. Computed correlations between pedigree and genomic relationships, within groups with similar relationships, ranged from negative to moderate for both estimated relationships and inbreeding coefficients, but were high between estimates from SNP and WGS (0.49 to 0.99). Estimated relationships from genomic information exhibited higher variation than from pedigree. Inbreeding coefficients analysis showed that more complete pedigree records lead to higher correlation between inbreeding coefficients from pedigree and genomic data. Finally, estimates and correlations between additive genetic (A) and genomic (G) relationship matrices were lower, and variances of the relationships were larger when accounting for allele frequencies than without accounting for allele frequencies. Using pedigree data or genomic information, and including or excluding variants with a MAF below 5% showed significant differences in relationship and inbreeding coefficient estimates. Estimated relationships and inbreeding coefficients are the basis for selection decisions. Therefore, it can be expected that using WGS instead of SNP can affect selection decision. Inclusion of rare variants will give access to the variation they carry, which is of interest for conservation of genetic diversity.

  4. Family Impact Scale (FIS): Cross-cultural Adaptation and Psychometric Properties for the Peruvian Spanish Language.

    PubMed

    Abanto, Jenny; Albites, Ursula; Bönecker, Marcelo; Paiva, Saul M; Castillo, Jorge L; Aguilar-Gálvez, Denisse

    2015-12-01

    The lack of a Family Impact Scale (FIS) in Spanish language limits its use as an indicator in Spanish-speaking countries and precludes comparisons with data from other cultural and ethnic groups. The purpose of this study was therefore to adapt the FIS cross-culturally to the Peruvian Spanish language and assess its reliability and validity. In order to translate and adapt the FIS cross-culturally, it was answered by 60 parents in two pilot tests, after which it was tested on 200 parents of children aged 11 to 14 years who were clinically examined for dental caries experience and malocclusions. Internal consistency was assessed by Cronbach's alpha coefficient while repeat administration of the FIS on the same 200 parents enabled the test-retest reliability to be assessed via intraclass correlation coefficient (ICC). Construct and discriminant validity were based on associations of the FIS with global ratings of oral health and clinical groups, respectively. Mean (standard deviation) FIS total score was 5.20 (5.86). Internal consistency was confirmed by Cronbach's alpha 0.84. Test-retest reliability revealed excellent reproducibility (ICC = 0.96). Construct validity was good, demonstrating statistically significant associations between total FIS score and global ratings of oral health (p=0.007) and overall wellbeing (p=0.002), as well as for the subscale scores (p<0.05) with exception of the financial burden subscale. The FIS was also able to discriminate between children with and without dental caries experience and malocclusions (p<0.05). Satisfactory psychometric results for the Peruvian Spanish FIS confirm it as a reliable, valid instrument for assessing the impact on the family caused by children's oral conditions. Sociedad Argentina de Investigación Odontológica.

  5. Genomic Diversity in Pig (Sus scrofa) and its Comparison with Human and other Livestock

    PubMed Central

    Zhang, Chunyan; Plastow, Graham

    2011-01-01

    We have reviewed the current pig (Sus scrofa) genomic diversity within and between sites and compared them with human and other livestock. The current Porcine 60K single nucleotide polymorphism (SNP) panel has an average SNP distance in a range of 30 - 40 kb. Most of genetic variation was distributed within populations, and only a small proportion of them existed between populations. The average heterozygosity was lower in pig than in human and other livestock. Genetic inbreeding coefficient (FIS), population differentiation (FST), and Nei’s genetic distance between populations were much larger in pig than in human and other livestock. Higher average genetic distance existed between European and Asian populations than between European or between Asian populations. Asian breeds harboured much larger variability and higher average heterozygosity than European breeds. The samples of wild boar that have been analyzed displayed more extensive genetic variation than domestic breeds. The average linkage disequilibrium (LD) in improved pig breeds extended to 1 - 3 cM, much larger than that in human (~ 30 kb) and cattle (~ 100 kb), but smaller than that in sheep (~ 10 cM). European breeds showed greater LD that decayed more slowly than Asian breeds. We briefly discuss some processes for maintaining genomic diversity in pig, including migration, introgression, selection, and drift. We conclude that, due to the long time of domestication, the pig possesses lower heterozygosity, higher FIS, and larger LD compared with human and cattle. This implies that a smaller effective population size and less informative markers are needed in pig for genome wide association studies. PMID:21966252

  6. Lowered Diversity and Increased Inbreeding Depression within Peripheral Populations of Wild Rice Oryza rufipogon.

    PubMed

    Gao, Li-Zhi; Gao, Cheng-Wen

    2016-01-01

    The distribution of genetic variability from the interior towards the periphery of a species' range is of great interest to evolutionary biologists. Although it has been long presumed that population genetic variation should decrease as a species' range is approached, results of empirical investigations still remain ambiguous. Knowledge regarding patterns of genetic variability as well as affected factors is particularly not conclusive in plants. To determine genetic divergence in peripheral populations of the wild rice Oryza rufipogon Griff. from China, genetic diversity and population structure were studied in five northern & northeastern peripheral and 16 central populations using six microsatellite loci. We found that populations resided at peripheries of the species possessed markedly decreased microsatellite diversity than those located in its center. Population size was observed to be positively correlated with microsatellite diversity. Moreover, there are significantly positive correlations between levels of microsatellite diversity and distances from the northern and northeastern periphery of this species. To investigate genetic structure and heterozygosity variation between generations of O. rufipogon, a total of 2382 progeny seeds from 186 maternal families were further assayed from three peripheral and central populations, respectively. Peripheral populations exhibited significantly lower levels of heterozygosities than central populations for both seed and maternal generations. In comparisons with maternal samples, significantly low observed heterozygosity (HO) and high heterozygote deficit within populations (FIS) values were detected in seed samples from both peripheral and central populations. Significantly lower observed heterozygosity (HO) and higher FIS values were further observed in peripheral populations than those in central populations for seed samples. The results indicate an excess of homozygotes and thus high inbreeding depression in peripheral populations. Our results together suggest that historical contraction of geographical range, demographic changes, and environmental conditions near the northern and northeastern margins of O. rufipogon favor inbreeding and possibly selfing, leading to the rapidly decreased effective population size. Genetic drift, reduced gene flow, and possible local selection, consequently lead to lowered gene diversity, accelerated genetic divergence and increased inbreeding depression found in peripheral populations of O. rufipogon. Given these characteristics observed, northern and northeastern peripheral populations deserve relatively different conservation strategies for either germplasm sampling of ex situ conservation or setting in situ reserves for the adaptation to possible environmental changes and the future germplasm utilization of wild rice.

  7. Genetic Variability and Founder Effect in the Pitcher Plant Sarracenia purpurea (Sarraceniaceae) in Populations Introduced into Switzerland: from Inbreeding to Invasion

    PubMed Central

    PARISOD, CHRISTIAN; TRIPPI, CHARLOTTE; GALLAND, NICOLE

    2004-01-01

    • Background and Aims The long-lived and mainly outcrossing species Sarracenia purpurea has been introduced into Switzerland and become invasive. This creates the opportunity to study reactions to founder effect and how a species can circumvent deleterious effects of bottlenecks such as reduced genetic diversity, inbreeding and extinction through mutational meltdown, to emerge as a highly invasive plant. • Methods A population genetic survey by random amplified polymorphism DNA markers (RAPD) together with historical insights and a field pollination experiment were carried out. • Key Results At the regional scale, S. purpurea shows low structure (θst = 0·072) due to a recent founder event and important subsequent growth. Nevertheless, multivariate statistical analyses reveal that, because of a bottleneck that shifted allele frequencies, most of the variability is independent among populations. In one population (Tenasses) the species has become invasive and genetic analysis reveals restricted gene flow and family structure (θst = 0·287). Although inbreeding appears to be high (Fis > 0·410 from a Bayesian estimation), a field pollination experiment failed to detect significant inbreeding depression upon F1 seed number and seed weight fitness-traits. Furthermore, crosses between unrelated individuals produced F1 seeds with significantly reduced fitness, thus showing local outbreeding depression. • Conclusions The results suggest that, under restricted gene flow among families, the species may not only have rapidly purged deleterious alleles, but also have undergone some form of selection for inbreeding due to co-adaptation between loci. PMID:15546932

  8. Quantifying inbreeding avoidance through extra-pair reproduction

    PubMed Central

    Reid, Jane M; Arcese, Peter; Keller, Lukas F; Germain, Ryan R; Duthie, A Bradley; Losdat, Sylvain; Wolak, Matthew E; Nietlisbach, Pirmin

    2015-01-01

    Extra-pair reproduction is widely hypothesized to allow females to avoid inbreeding with related socially paired males. Consequently, numerous field studies have tested the key predictions that extra-pair offspring are less inbred than females’ alternative within-pair offspring, and that the probability of extra-pair reproduction increases with a female's relatedness to her socially paired male. However, such studies rarely measure inbreeding or relatedness sufficiently precisely to detect subtle effects, or consider biases stemming from failure to observe inbred offspring that die during early development. Analyses of multigenerational song sparrow (Melospiza melodia) pedigree data showed that most females had opportunity to increase or decrease the coefficient of inbreeding of their offspring through extra-pair reproduction with neighboring males. In practice, observed extra-pair offspring had lower inbreeding coefficients than females’ within-pair offspring on average, while the probability of extra-pair reproduction increased substantially with the coefficient of kinship between a female and her socially paired male. However, simulations showed that such effects could simply reflect bias stemming from inbreeding depression in early offspring survival. The null hypothesis that extra-pair reproduction is random with respect to kinship therefore cannot be definitively rejected in song sparrows, and existing general evidence that females avoid inbreeding through extra-pair reproduction requires reevaluation given such biases. PMID:25346331

  9. Inbreeding avoidance in an isolated indigenous Zapotec community in the valley of Oaxaca, southern Mexico.

    PubMed

    Little, Bertis B; Malina, Robert M

    2005-06-01

    We analyzed inbreeding using surname isonymy in an indigenous genetic isolate. The subjects were residents of a rural Zapotec-speaking community in the valley of Oaxaca, southern Mexico. The community can be classified as a genetic isolate with an average gene flow of < or = 3% per generation. Surnames were collected for individuals in each household in pedigree form using the culturally traditional patronym-matronym naming. Estimation of inbreeding from surname isonymy is facilitated by the traditional patronym-matronym name assignment among indigenous Mexican populations. A total of 2,149 individuals had valid surname patronym-matronym pairings, including 484 deceased ancestors. Surname isonymy analysis methods were used to estimate total inbreeding and to segregate it into random and nonrandom components. The surname isonymy coefficient computed from 119 isonymous surname pairings (119/2,149) was 0.0554. The estimated inbreeding coefficient from surname isonymy was 0.0138 (0.0554/4). The random and nonrandom components of inbreeding were F(r) = 0.0221 and F(n) = -0.0091, respectively. The results suggest that consanguinity is culturally avoided. Nonrandom inbreeding decreased total inbreeding by about 41%. Total estimated inbreeding by surname isonymy was 0.0138, which is similar to inbreeding estimated from a sample of pedigrees, 0.01. Socially prescribed inbreeding avoidance substantially lowered total F through negative nonrandom inbreeding. Even in the situation of genetic isolation and small effective population size (N(e)), estimated inbreeding is lower than may have otherwise occurred if inbreeding were only random. However, among the poorest individuals, socially prescribed jural rules for inbreeding avoidance failed to operate. Thus the preponderance of inbreeding appears to occur among the poor, economically disadvantaged in the community.

  10. Genomic Inbreeding and Relatedness in Wild Panda Populations.

    PubMed

    Garbe, John R; Prakapenka, Dzianis; Tan, Cheng; Da, Yang

    2016-01-01

    Inbreeding and relatedness in wild panda populations are important parameters for panda conservation. Habitat loss and fragmentation are expected to increase inbreeding but the actual inbreeding levels in natural panda habitats were unknown. Using 150,025 SNPs and 14,926 SNPs selected from published whole-genome sequences, we estimated genomic inbreeding coefficients and relatedness of 49 pandas including 34 wild pandas sampled from six habitats. Qinling and Liangshan pandas had the highest levels of inbreeding and relatedness measured by genomic inbreeding and coancestry coefficients, whereas the inbreeding levels in Qionglai and Minshan were 28-45% of those in Qinling and Liangshan. Genomic coancestry coefficients between pandas from different habitats showed that panda populations from the four largest habitats, Minshan, Qionglai, Qinling and Liangshan, were genetically unrelated. Pandas between these four habitats on average shared 66.0-69.1% common alleles and 45.6-48.6% common genotypes, whereas pandas within each habitat shared 71.8-77.0% common alleles and 51.7-60.4% common genotypes. Pandas in the smaller populations of Qinling and Liangshan were more similarly to each other than pandas in the larger populations of Qionglai and Minshan according to three genomic similarity measures. Panda genetic differentiation between these habitats was positively related to their geographical distances. Most pandas separated by 200 kilometers or more shared no common ancestral alleles. The results provided a genomic quantification of the actual levels of inbreeding and relatedness among pandas in their natural habitats, provided genomic confirmation of the relationship between genetic diversity and geographical distances, and provided genomic evidence to the urgency of habitat protection.

  11. The Concept of Identity of Genes by Descent

    DTIC Science & Technology

    1966-01-07

    gametes or the coefficient of inbreeding F and Wright developed knowledge of the progress of F with various systems of inbreeding. It appears to be the...a diploid individual X have two genes a, b at a locus. Then, Journal Paper No. J-5618 of the Iowa Agricultural and Home Economics Station, Ames, Iowa...coefficient of inbreeding F is the probability that genes a, b have arisen by the copying process of reproduction from a single gene in the ancestry. At the

  12. Quantifying inbreeding avoidance through extra-pair reproduction.

    PubMed

    Reid, Jane M; Arcese, Peter; Keller, Lukas F; Germain, Ryan R; Duthie, A Bradley; Losdat, Sylvain; Wolak, Matthew E; Nietlisbach, Pirmin

    2015-01-01

    Extra-pair reproduction is widely hypothesized to allow females to avoid inbreeding with related socially paired males. Consequently, numerous field studies have tested the key predictions that extra-pair offspring are less inbred than females' alternative within-pair offspring, and that the probability of extra-pair reproduction increases with a female's relatedness to her socially paired male. However, such studies rarely measure inbreeding or relatedness sufficiently precisely to detect subtle effects, or consider biases stemming from failure to observe inbred offspring that die during early development. Analyses of multigenerational song sparrow (Melospiza melodia) pedigree data showed that most females had opportunity to increase or decrease the coefficient of inbreeding of their offspring through extra-pair reproduction with neighboring males. In practice, observed extra-pair offspring had lower inbreeding coefficients than females' within-pair offspring on average, while the probability of extra-pair reproduction increased substantially with the coefficient of kinship between a female and her socially paired male. However, simulations showed that such effects could simply reflect bias stemming from inbreeding depression in early offspring survival. The null hypothesis that extra-pair reproduction is random with respect to kinship therefore cannot be definitively rejected in song sparrows, and existing general evidence that females avoid inbreeding through extra-pair reproduction requires reevaluation given such biases. © 2014 The Author(s). Evolution © 2014 The Society for the Study of Evolution.

  13. Genomic Inbreeding and Relatedness in Wild Panda Populations

    PubMed Central

    Da, Yang

    2016-01-01

    Inbreeding and relatedness in wild panda populations are important parameters for panda conservation. Habitat loss and fragmentation are expected to increase inbreeding but the actual inbreeding levels in natural panda habitats were unknown. Using 150,025 SNPs and 14,926 SNPs selected from published whole-genome sequences, we estimated genomic inbreeding coefficients and relatedness of 49 pandas including 34 wild pandas sampled from six habitats. Qinling and Liangshan pandas had the highest levels of inbreeding and relatedness measured by genomic inbreeding and coancestry coefficients, whereas the inbreeding levels in Qionglai and Minshan were 28–45% of those in Qinling and Liangshan. Genomic coancestry coefficients between pandas from different habitats showed that panda populations from the four largest habitats, Minshan, Qionglai, Qinling and Liangshan, were genetically unrelated. Pandas between these four habitats on average shared 66.0–69.1% common alleles and 45.6–48.6% common genotypes, whereas pandas within each habitat shared 71.8–77.0% common alleles and 51.7–60.4% common genotypes. Pandas in the smaller populations of Qinling and Liangshan were more similarly to each other than pandas in the larger populations of Qionglai and Minshan according to three genomic similarity measures. Panda genetic differentiation between these habitats was positively related to their geographical distances. Most pandas separated by 200 kilometers or more shared no common ancestral alleles. The results provided a genomic quantification of the actual levels of inbreeding and relatedness among pandas in their natural habitats, provided genomic confirmation of the relationship between genetic diversity and geographical distances, and provided genomic evidence to the urgency of habitat protection. PMID:27494031

  14. Tracking the Genetic Stability of a Honey Bee (Hymenoptera: Apidae) Breeding Program With Genetic Markers.

    PubMed

    Bourgeois, Lelania; Beaman, Lorraine

    2017-08-01

    A genetic stock identification (GSI) assay was developed in 2008 to distinguish Russian honey bees from other honey bee stocks that are commercially produced in the United States. Probability of assignment (POA) values have been collected and maintained since the stock release in 2008 to the Russian Honey Bee Breeders Association. These data were used to assess stability of the breeding program and the diversity levels of the contemporary breeding stock through comparison of POA values and genetic diversity parameters from the initial release to current values. POA values fluctuated throughout 2010-2016, but have recovered to statistically similar levels in 2016 (POA(2010) = 0.82, POA(2016) = 0.74; P = 0.33). Genetic diversity parameters (i.e., allelic richness and gene diversity) in 2016 also remained at similar levels when compared to those in 2010. Estimates of genetic structure revealed stability (FST(2009/2016) = 0.0058) with a small increase in the estimate of the inbreeding coefficient (FIS(2010) = 0.078, FIS(2016) = 0.149). The relationship among breeding lines, based on genetic distance measurement, was similar in 2008 and 2016 populations, but with increased homogeneity among lines (i.e., decreased genetic distance). This was expected based on the closed breeding system used for Russian honey bees. The successful application of the GSI assay in a commercial breeding program demonstrates the utility and stability of such technology to contribute to and monitor the genetic integrity of a breeding stock of an insect species. Published by Oxford University Press on behalf of Entomological Society of America 2017. This work is written by US Government employees and is in the public domain in the US.

  15. Effects of inbreeding and other systematic effects on fertility of Black Forest Draught horses in Germany.

    PubMed

    Müller-Unterberg, Maarit; Wallmann, Sandra; Distl, Ottmar

    2017-10-18

    The Black Forest Draught horse (BFDH) is an endangered German coldblood breed with its origin in the area of the Black Forest in South Germany. In this retrospective study, the influence of the inbreeding coefficient on foaling rates was investigated using records from ten breeding seasons. Due to the small population size of BFDH, the level of inbreeding is increasing and may have an effect on foaling rates.The data of the present study included all coverings reported for 1024 BFDH mares in the years 2001-2009. These mares were covered by 32 BFDH stallions from the State Stud Marbach. Data from 4534 estrus cycles was used to calculate per cycle foaling rate (CFR). Pedigree data contained all studbook data up to the foundation of the breed as early as 1836. The level of inbreeding of the mare, stallion and expected foal along with other systematic effects on CFR were analysed using a generalized linear mixed model approach. Stallion was employed as a random effect. Systematic fixed effects were month of mating, mating type, age of the mare and stallion, reproductive status of the mare and stallion line of the mare. Inbreeding coefficients of the stallion, mare and expected foal were modelled as linear covariates. The average CFR was 40.9%. The mean inbreeding coefficients of the mares, stallions and expected foals were 7.46, 7.70 and 9.66%. Mating type, age of the mare, reproductive status of the mare and stallion line of the mare had a significant effect. The results showed that the mating type, stallion line of the mare, sire, age and reproductive status of the mare exerted the largest influences on CFR in BFDH. Inbreeding coefficients of the stallion, mare and expected foal were not significantly related with CFR.

  16. Effect of incomplete pedigrees on estimates of inbreeding and inbreeding depression for days to first service and summit milk yield in Holsteins and Jerseys.

    PubMed

    Cassell, B G; Adamec, V; Pearson, R E

    2003-09-01

    A method to measure completeness of pedigree information is applied to populations of Holstein (registered and grade) and Jersey (largely registered) cows. Inbreeding coefficients where missing ancestors make no contribution were compared to a method using average relationships for missing ancestors. Estimated inbreeding depression was from an animal model that simultaneously adjusted for breeding values. Inbreeding and its standard deviation increased with more information, from 0.04 +/- 0.84 to 1.65 +/- 2.05 and 2.06 +/- 2.22 for grade Holsteins with <31%, 31 to 70%, and 71 to 100% complete five-generation pedigrees. Inbreeding from the method of average relationships for missing ancestors was 2.75 +/- 1.06, 3.10 +/- 2.21, and 2.89 +/- 2.37 for the same groups. Pedigrees of registered Holsteins and Jerseys were over 97% and over 89% complete, respectively. Inbreeding depression in days to first service and summit milk yield was estimated from both methods. Inbreeding depression for days to first service was not consistently significant for grade Holsteins and ranged from -0.37 d/1% increase in inbreeding (grade Holstein pedigrees <31% complete) to 0.15 d for grade Holstein pedigrees >70% complete. Estimates were similar for both methods. Inbreeding depression for registered Holsteins and Jerseys were positive (undesirable) but not significant for days to first service. Inbreeding depressed summit milk yield significantly in all groups by both methods. Summit milk yield declined by -0.12 to -0.06 kg/d per 1% increase in inbreeding in Holsteins and by -0.08 kg/1% increase in inbreeding in Jerseys. Pedigrees of grade animals are frequently incomplete and can yield misleading estimates of inbreeding depression. This problem is not overcome by inserting average relationships for missing ancestors in calculation of inbreeding coefficients.

  17. Inbreeding effects on in vitro embryo production traits in Guzerá cattle.

    PubMed

    Perez, B C; Balieiro, J C C; Ventura, R V; Bruneli, F A T; Peixoto, M G C D

    2017-11-01

    Inbreeding has been associated with the impairment of reproductive performance in many cattle breeds. Although the usage of reproductive biotechnologies has been increasing in bovine populations, not much attention has been given to the impact of inbreeding over cow's performance on artificial reproduction. The objective of this study was to estimate the impact of inbreeding on in vitro embryo production in a Guzerá breed population. The inbreeding coefficient (F), calculated as half of the co-ancestry of the individual's parents, was used as an estimate of inbreeding. The inbreeding coefficients of the donor, sire (used on in vitro fertilization) and of the embryos were included, separately, in the proposed models either as classificatory or continuous variables (linear and quadratic effects). The percentage of non-inbred individuals (or embryos) and mean F of donors, embryos and sires were 29.38%; 35.76%; 42.86% and 1.98±2.68; 1.32±3.13; 2.08±2.79, respectively. Two different models were considered, one for oocyte production traits and other for embryo production traits. The increase of F of the donor significantly (P<0.05) impaired the number of viable oocytes (N OV), number of grade I oocytes (N GI) and number of cleaved embryos (N CLV). Moreover, the donor's F influenced the percentage of grade I oocytes (P GI), percentage of viable embryos (P EMB) and percentage of cleaved embryos that turned into embryos (P CXE). No significant (P>0.05) effects were observed for the sire (father of the embryos) inbreeding coefficient over the traits analysed. Embryo's F influenced (P<0.05) the number of viable embryos (N EMB), percentage of viable embryos (P EMB) and percentage of cleaved embryos that turn into embryos (P CXE). Results suggested that an increase in the inbreeding coefficient might impair the embryos ability to survive through challenges imposed by the in vitro environment. Submitting highly inbred Guzerá female donors to in vitro embryo production may, in the long-term, have negative implications on the number of embryos obtained per cow and increase the relative costs of the improvement programmes based on this technology. High levels of inbreeding should be avoided when selecting Guzerá female donors and planning in vitro fertilization mating.

  18. EFFECTS OF DIFFERENT LEVELS OF INBREEDING ON PROGENY FITNESS IN PLANTAGO CORONOPUS.

    PubMed

    Koelewijn, Hans Peter

    1998-06-01

    Inbreeding depression (δ) is a major selective force favoring outcrossing in flowering plants. Many phenotypic and genetic models of the evolution of selfing conclude that complete outcrossing should evolve whenever inbreeding depression is greater than one-half, otherwise selfing should evolve. Recent theoretical work, however, has challenged this view and emphasized (1) the importance of variation in inbreeding depression among individuals within a population; and (2) the nature of gene action between deleterious mutations at different loci (epistasis) as important determinants for the evolution of plant mating systems. The focus of this study was to examine the maintenance of inbreeding depression and the relationship between inbreeding level and inbreeding depression at both the population and the individual level in one population of the partially self-fertilizing plant Plantago coronopus (L.). Maternal plants, randomly selected from an area of about 50 m 2 in a natural population, were used to establish lines with expected inbreeding coefficients (f) of 0, 0.25, 0.50, 0.75, and 0.875. Inbreeding depression was estimated both in the greenhouse and at the site of origin of the maternal plants by comparing growth, survival, flowering, and seed production of the progeny with different inbreeding coefficients. No significant inbreeding depression for these fitness traits was detected in the greenhouse after 16 weeks. This was in strong contrast to the field, where the traits all displayed significant inbreeding depression and declined with increased inbreeding. The results were consistent with the view that mutation to mildly deleterious alleles is the primary cause of inbreeding depression. At the family level, significantly different maternal line responses (maternal parent × inbreeding level interaction) provide a mechanism for the invasion of a selfing variant into the population through any maternal line exhibiting purging of its genetic load. At the population level, evidence for synergistic epistasis was detected for the probability of flowering, but not for total seed production. At the family level, however, a significant interaction between inbreeding level and maternal families for both traits was observed, indicating that epistasis could play a role in the expression of inbreeding depression among maternal lines. © 1998 The Society for the Study of Evolution.

  19. [Analysis of the population structure of the Black Forest Draught Horse].

    PubMed

    Aberle, Kerstin; Wrede, Jörn; Distl, Ottmar

    2003-01-01

    Gene contributions of foreign populations as well as coefficients of inbreeding and relationship were evaluated in 699 Black Forest Draught horses of Baden-Württemberg actually registered in the year 2002. Based on nearly complete 5-generation-pedigrees and after taking into account the remaining incompleteness, the mean coefficient of inbreeding for the total population was 6.5%. The recently by incrossing with different breeds newly established lines of stallions showed significantly lower mean coefficients of inbreeding. High rates of inbreeding of about 1.6% in the last five generations could also be faced by incrossing stallions of foreign coldblooded populations what resulted in a decrease of inbreeding in the last generation. In the total population the mean degree of relationship was 16%. The mean degree of relationships within lines of stallions was between 18.3 and 26.8%. The coefficients of relationships between lines of stallions varied between 5.1 and 16.6%. Especially, the newly established lines of stallions showed a lower mean degree of relationships to the other different lines of stallions. The proportion of purebred Black Forest Draught horses in the total population was nearly 70%. Assuming that most animals of unknown origin were purebred, the proportion of purebred Black Forest Draught horses reached about 90%. Austrian Noric, Swiss Freiberg and South German Coldblood stallions were the most important contributors to the Black Forest Draught horse population.

  20. Matrimonial distance, inbreeding coefficient and population size: Dhangar data.

    PubMed

    Majumder, P P; Malhotra, K C

    1979-01-01

    Data on the distance between the birthplaces of spouses (matrimonial distance) were collected from 2,260 married individuals belonging to 21 endogamous castes of the Dhangar (shepherd) cast-cluster of Maharashtra, India. The general form of the distribution of matrimonial distances is one which is extremely positively skewed and leptokurtic. The percentage of intra-village marriages generally decreases from the southern areas of Maharashtra to the northern areas of the state, as does the inbreeding coefficient. This situation is in conformity with the socio-cultural norms regulating matrimonial choice in south and north India. An attempt has been made to relate the degree of inbreeding to the mean matrimonial distance and population size. The mean matrimonial distance is more useful in predicting the degree of inbreeding than population size.

  1. Genetic variation and population structure of the mixed-mating cactus, Melocactus curvispinus (Cactaceae).

    PubMed

    Nassar, J M; Hamrick, J L; Fleming, T H

    2001-07-01

    Genetic diversity was measured in the mixed-mating cactus, Melocactus curvispinus, in Venezuela. Allozyme diversity was surveyed in 19 putative loci over 18 populations. Compared to other plant taxa, this cactus is rich in polymorphic loci (Ps=89.5%), with high numbers of alleles per polymorphic locus (APs=3.82), but moderate levels of heterozygosity (Hes=0.145). Substantial levels of inbreeding were detected across loci and populations at macrogeographic (FIS=0.348) and regional levels (FIS=0.194-0.402). Moderate levels of genetic differentiation among populations were detected at macrogeographical (FST=0.193) and regional (FST=0.084-0.187) scales, suggesting that gene flow is relatively restricted, but increases within regions without topographic barriers. The population genetic structure observed for this cactus was attributed to, at least, three factors: short-distance pollination and seed dispersal, the mixed-mating condition of the species, and genetic drift. High genetic identities between populations (I=0.942) supported the conspecific nature of all populations surveyed. The levels and patterns of genetic structure observed for M. curvispinus were consistent with its mating system and gene dispersal mechanisms.

  2. Severe inbreeding depression in a wild wolf (Canis lupus) population.

    PubMed

    Liberg, Olof; Andrén, Henrik; Pedersen, Hans-Christian; Sand, Håkan; Sejberg, Douglas; Wabakken, Petter; Kesson, Mikael; Bensch, Staffan

    2005-03-22

    The difficulty of obtaining pedigrees for wild populations has hampered the possibility of demonstrating inbreeding depression in nature. In a small, naturally restored, wild population of grey wolves in Scandinavia, founded in 1983, we constructed a pedigree for 24 of the 28 breeding pairs established in the period 1983-2002. Ancestry for the breeding animals was determined through a combination of field data (snow tracking and radio telemetry) and DNA microsatellite analysis. The population was founded by only three individuals. The inbreeding coefficient F varied between 0.00 and 0.41 for wolves born during the study period. The number of surviving pups per litter during their first winter after birth was strongly correlated with inbreeding coefficients of pups (R2=0.39, p<0.001). This inbreeding depression was recalculated to match standard estimates of lethal equivalents (2B), corresponding to 6.04 (2.58-9.48, 95% CI) litter-size-reducing equivalents in this wolf population.

  3. Affected sib pair tests in inbred populations.

    PubMed

    Liu, W; Weir, B S

    2004-11-01

    The affected-sib-pair (ASP) method for detecting linkage between a disease locus and marker loci was first established 50 years ago, and since then numerous modifications have been made. We modify two identity-by-state (IBS) test statistics of Lange (Lange, 1986a, 1986b) to allow for inbreeding in the population. We evaluate the power and false positive rates of the modified tests under three disease models, using simulated data. Before estimating false positive rates, we demonstrate that IBS tests are tests of both linkage and linkage disequilibrium between marker and disease loci. Therefore, the null hypothesis of IBS tests should be no linkage and no LD. When the population inbreeding coefficient is large, the false positive rates of Lange's tests become much larger than the nominal value, while those of our modified tests remain close to the nominal value. To estimate power with a controlled false positive rate, we choose the cutoff values based on simulated datasets under the null hypothesis, so that both Lange's tests and the modified tests generate same false positive rate. The powers of Lange's z-test and our modified z-test are very close and do not change much with increasing inbreeding. The power of the modified chi-square test also stays stable when the inbreeding coefficient increases. However, the power of Lange's chi-square test increases with increasing inbreeding, and is larger than that of our modified chi-square test for large inbreeding coefficients. The power is high under a recessive disease model for both Lange's tests and the modified tests, though the power is low for additive and dominant disease models. Allowing for inbreeding is therefore appropriate, at least for diseases known to be recessive.

  4. Population properties affect inbreeding avoidance in moose

    PubMed Central

    Herfindal, Ivar; Haanes, Hallvard; Røed, Knut H.; Solberg, Erling J.; Markussen, Stine S.; Heim, Morten; Sæther, Bernt-Erik

    2014-01-01

    Mechanisms reducing inbreeding are thought to have evolved owing to fitness costs of breeding with close relatives. In small and isolated populations, or populations with skewed age- or sex distributions, mate choice becomes limited, and inbreeding avoidance mechanisms ineffective. We used a unique individual-based dataset on moose from a small island in Norway to assess whether inbreeding avoidance was related to population structure and size, expecting inbreeding avoidance to be greater in years with larger populations and even adult sex ratios. The probability that a potential mating event was realized was negatively related to the inbreeding coefficient of the potential offspring, with a stronger relationship in years with a higher proportion or number of males in the population. Thus, adult sex ratio and population size affect the degree of inbreeding avoidance. Consequently, conservation managers should aim for sex ratios that facilitate inbreeding avoidance, especially in small and isolated populations. PMID:25540152

  5. Validation of the Fatigue Impact Scale in Hungarian patients with multiple sclerosis.

    PubMed

    Losonczi, Erika; Bencsik, Krisztina; Rajda, Cecília; Lencsés, Gyula; Török, Margit; Vécsei, László

    2011-03-01

    Fatigue is one of the most frequent complaints of patients with multiple sclerosis (MS). The Fatigue Impact Scale (FIS), one of the 30 available fatigue questionnaires, is commonly applied because it evaluates multidimensional aspects of fatigue. The main purposes of this study were to test the validity, test-retest reliability, and internal consistency of the Hungarian version of the FIS. One hundred and eleven MS patients and 85 healthy control (HC) subjects completed the FIS and the Beck Depression Inventory, a large majority of them on two occasions, 3 months apart. The total FIS score and subscale scores differed statistically between the MS patients and the HC subjects in both FIS sessions. In the test-retest reliability assessment, statistically, the intraclass correlation coefficients were high in both the MS and HC groups. Cronbach's alpha values were also notably high. The results of this study indicate that the FIS can be regarded as a valid and reliable scale with which to improve our understanding of the impact of fatigue on the health-related quality of life in MS patients without severe disability.

  6. Tests for a disease-susceptibility locus allowing for an inbreeding coefficient (F).

    PubMed

    Song, Kijoung; Elston, Robert C

    2003-11-01

    We begin by discussing the false positive test results that arise because of cryptic relatedness and population substructure when testing a disease susceptibility locus. We extend and evaluate the Hardy-Weinberg disequilibrium (HWD) method, allowing for an inbreeding coefficient (F) in a similar way that Devlin and Roeder (1999) allowed for inbreeding in a case-control study. Then we compare the HWD measure and the common direct measure of linkage disequilibrium, both when there is no population substructure (F = 0) and when there is population substructure (F not = 0), for a single marker. The HWD test statistic gives rise to false positives caused by population stratification. These false positives can be controlled by adjusting the test statistic for the amount of variance inflation caused by the inbreeding coefficient (F). The power loss for the HWD test that arises when controlling for population structure is much less than that which arises for the common direct measure of linkage disequilibrium. However, in the multiplicative model, the HWD test has virtually no power even when allowing for non-zero F.

  7. Increased cardiovascular risks associated with familial inbreeding: a population-based study of adolescent cohort.

    PubMed

    Fareed, Mohd; Afzal, Mohammad

    2016-04-01

    Cardiovascular diseases are the leading cause of mortality and morbidity among humans worldwide. We aimed to estimate the effect of familial inbreeding on cardiovascular risks. The study was conducted during April 2014 through June 2014, and a total of 587 adolescent subjects (male = 270, female = 317; 11-18 years of age) were recruited from five Muslim populations viz., Gujjar and Bakarwal (n = 130), Mughal (n = 111), Malik (n = 114), Syed (n = 108), and Khan (n = 124). Wright's path relationship method was used for calculating the coefficient of inbreeding (F). Anthropometric and physiological parameters were estimated using standard methods. We observed higher mean values for major physiological traits among the inbred subjects in comparison with the non-inbred groups of five different populations. Our study suggests that inbreeding and sex are the key factors affecting cardiovascular profile. Multivariate analysis of covariance revealed inbreeding as a major source of variation for cardiovascular risks, dominating over other factors causing greater variability in the physiological traits. The magnitude of cardiovascular risks shows an increase with the increase in the values of coefficient of inbreeding (i.e., from F = 0.00 to F = 0.125). The abnormal levels of systolic blood pressure (SBP; range 140-159 mm Hg) and fasting blood glucose (FBG; range 101-126 mg per dL) show persuasive increase with an upsurge in the homozygosity level (i.e., coefficient of inbreeding). Our comprehensive assessment presents the deleterious consequence of inbreeding on cardiovascular profile. This study can be used as fact-sheet for framing the heath policies and hence can play a vital role in genetic counseling strategies for transforming the public opinion regarding the practice of consanguinity and its associated risks. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Inbreeding coefficients and degree of consanguineous marriages in Spain: a review.

    PubMed

    Fuster, Vicente; Colantonio, Sonia Edith

    2003-01-01

    The contribution of consanguineous marriages corresponding to uncle-niece or aunt-nephew (C12), first cousin (C22), first cousin once removed (C23), and second cousin (C33) to the inbreeding coefficient (alpha) was analyzed from a sample of Spanish areas and periods. Multiple regressions were performed taking as independent variables the different degrees of consanguinity previously selected (C12, C22, C23, and C33) and as dependent variable the inbreeding coefficient (alpha). According to the results obtained for any degree and period, rural frequencies always surpass urban. However, the pattern is similar in both areas. In the period where consanguinity was more elevated (1890-1929) the C22/C33 ratio increased. Its variation is not due to C22 and C33 changes in the same way. In rural areas, this ratio surpasses the expected value by a factor of 2-3, but in urban areas it was 7-10 times larger, in some cases due to migration. While in rural Spain the C33 frequency was approximately 1.5 times C22, in cities C22 was 1.5 times C33. The best fit among the various types of consanguineous matings and alpha involves a lineal relationship. Regardless of the number of variables contributing significantly to alpha, C22 matings are always present. Moreover, their standardized (beta) coefficients are the highest. The above indicates that this consanguineous relationship conditions the inbreeding coefficient the most. In the period of greater consanguinity, close relationships, uncle-niece C12, and first cousin once removed (C23) make a significant contribution to alpha. In rural Spain second cousins (C33) always significantly determined alpha; however, in cities the inbreeding variation was mainly due to C12 and C23. Copyright 2003 Wiley-Liss, Inc.

  9. The Association of Inbreeding With Lung Fibrosis Incidence in Beagle Dogs That Inhaled 238PuO2 or 239PuO2.

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Wilson, Dulaney A.; Brigantic, Andrea M.; Morgan, William F.

    Studies of health effects in animals after exposure to internally deposited radionuclides were intended to supplement observational studies in humans. Both nuclear workers and Beagle dogs have exhibited plutonium associated lung fibrosis; however, the dogs smaller gene pool may limit the applicability of findings to humans. Data on Beagles that inhaled either plutonium-238 dioxide (238PuO2) or plutonium-239 dioxide (239PuO2) were analyzed. Wright's Coefficient of Inbreeding was used to measure genetic or familial susceptibility and was assessed as an explanatory variable when modeling the association between lung fibrosis incidence and plutonium exposure. Lung fibrosis was diagnosed in approximately 80% of themore » exposed dogs compared with 23.7% of the control dogs. The maximum degree of inbreeding was 9.4%. Regardless of isotope, the addition of inbreeding significantly improved the model in female dogs but not in males. In female dogs an increased inbreeding coefficient predicted decreased hazard of a lung fibrosis diagnosis. Lung fibrosis was common in these dogs with inbreeding affecting models of lung fibrosis incidence in females but not in males. The apparent protective effect in females predicted by these models of lung fibrosis incidence is likely to be minimal given the small degree of inbreeding in these groups.« less

  10. No evidence for inbreeding avoidance in a natural population of song sparrows (Melospiza melodia).

    PubMed

    Keller, L F; Arcese, P

    1998-09-01

    We studied mate choice and inbreeding avoidance a natural population of song sparrows (Melospiza melodia) on Mandarte Island, Canada. Inbreeding occurred regularly: 59% all matings were between known relatives. We tested for inbreeding avoidance by comparing the observed levels of inbreeding to those expected if mate choice had been random with respect to relatedness. Independent of our assumptions about the availability of mates in the random mating model, we found that the expected and observed distributions of inbreeding coefficients were similar, as was the expected and observed frequency of close (f >/= 0.125) inbreeding. Furthermore, there was no difference in relatedness observed pairs and those that would have resulted had birds mated instead with their nearest neighbors. The only evidence to suggest any inbreeding avoidance was a reduced rate of parent-offspring matings as compared to one random mating model but not the other. Hence, despite substantial inbreeding depression in this population, we found little evidence for inbreeding avoidance through mate choice. We present a simple model to suggest that variation in inbreeding avoidance behaviors in birds may arise from differences in survival rates: in species with low survival rates, the costs of forfeiting matings to avoid inbreeding may exceed the costs of inbreeding.

  11. Impact of consanguineous marriages and degrees of inbreeding on fertility, child mortality, secondary sex ratio, selection intensity, and genetic load: a cross-sectional study from Northern India.

    PubMed

    Fareed, Mohd; Kaisar Ahmad, Mir; Azeem Anwar, Malik; Afzal, Mohammad

    2017-01-01

    The aim of our study was to understand the relationship between consanguineous marriages and reproductive outcomes. A total of 999 families were recruited from five Muslim populations of Jammu region. Family pedigrees were drawn to access the family history and inbreeding status in terms of coefficient of inbreeding (F). Fertility, mortality, secondary sex ratio, selection intensity, and lethal equivalents were measured using standard methods. The significant differences for gross fertility was found to be higher among inbred groups as compared to the unrelated families (P < 0.05) and higher mortality rates were observed among consanguineous families of all populations in comparison with the non-consanguineous family groups. Moreover, the prenatal and postnatal child mortality rates (i.e., U5MR and U18MR) have presented a persuasive increase with an upsurge in the homozygosity level. The mortality rate was found to be maximum among families with the highest value of coefficient of inbreeding (F). The selection intensity (SI) also showed inflations among families with respect to their increasing inbreeding coefficients. The greater values of lethal equivalents per gamete (LEs/gamete) were observed for autosomal inheritance in comparison with sex-linked inheritance. Our conclusive assessment brings out the deleterious consequence of consanguineous marriages on reproductive outcomes.

  12. The effect of fast created inbreeding on litter size and body weights in mice

    PubMed Central

    Holt, Marte; Meuwissen, Theo; Vangen, Odd

    2005-01-01

    This study was designed to reveal any differences in effects of fast created versus total inbreeding on reproduction and body weights in mice. A line selected for large litter size for 124 generations (H) and a control line (K) maintained without selection for the same number of generations were crossed (HK) and used as a basis for the experiment. Within the HK cross, full sib, cousin or random mating were practised for two generations in order to create new inbreeding (IBF) at a fast rate. In the first generation of systematic mating, old inbreeding was regenerated in addition to creation of new inbreeding from the mating design giving total inbreeding (IBT). The number of pups born alive (NBA) and body weights of the animals were then analysed by a model including both IBT and IBF. The IBT of the dam was in the present study found to reduce the mean NBA with -0.48 (± 0.22) (p < 0.05) pups per 10% increase in the inbreeding coefficient, while the additional effect of IBF was -0.42 (± 0.27). For the trait NBA per female mated, the effect of IBT was estimated to be -0.45 (± 0.29) per 10% increase in the inbreeding coefficient and the effect of IBF was -0.90 (± 0.37) (p < 0.05) pups. In the present study, only small or non-significant effects of IBF of the dam could be found on sex-ratio and body weights at three and six weeks of age in a population already adjusted for IBT. PMID:16093013

  13. The effects of age and environment on the expression of inbreeding depression in Eucalyptus globulus

    PubMed Central

    Costa e Silva, J; Hardner, C; Tilyard, P; Potts, B M

    2011-01-01

    Inbreeding adversely affects fitness traits in many plant and animal species, and the magnitude, stability and genetic basis of inbreeding depression (ID) will have short- and long-term evolutionary consequences. The effects of four degrees of inbreeding (selfing, f=50% full- and half-sib matings, f=25 and 12.5% and unrelated outcrosses, f=0%) on survival and growth of an island population of Eucalyptus globulus were studied at two sites for over 14 years. For selfs, ID in survival increased over time, reaching a maximum of 49% by age 14 years. However, their inbreeding depression for stem diameter remained relatively stable with age, and ranged from 28 to 36% across years and sites. ID for survival was markedly greater on the more productive site, possibly due to greater and earlier onset of inter-tree competition, but was similar on both sites for the diameter of survivors. The deleterious trait response to increasing inbreeding coefficients was linear for survival and diameter. Non-significant quadratic effects suggested that epistasis did not contribute considerably to the observed ID at the population level. Among- and within-family coefficients of variation for diameter increased with inbreeding degree, and the variance among the outcrossed families was significant only on the more productive site. The performance of self-families for diameter was highly stable between sites. This suggests that, for species with mixed mating systems, environmentally stable inbreeding effects in open-pollinated progenies may tend to mask the additive genotype-by-environment interaction for fitness traits and the adaptive response to the environment. PMID:21224873

  14. Population properties affect inbreeding avoidance in moose.

    PubMed

    Herfindal, Ivar; Haanes, Hallvard; Røed, Knut H; Solberg, Erling J; Markussen, Stine S; Heim, Morten; Sæther, Bernt-Erik

    2014-12-01

    Mechanisms reducing inbreeding are thought to have evolved owing to fitness costs of breeding with close relatives. In small and isolated populations, or populations with skewed age- or sex distributions, mate choice becomes limited, and inbreeding avoidance mechanisms ineffective. We used a unique individual-based dataset on moose from a small island in Norway to assess whether inbreeding avoidance was related to population structure and size, expecting inbreeding avoidance to be greater in years with larger populations and even adult sex ratios. The probability that a potential mating event was realized was negatively related to the inbreeding coefficient of the potential offspring, with a stronger relationship in years with a higher proportion or number of males in the population. Thus, adult sex ratio and population size affect the degree of inbreeding avoidance. Consequently, conservation managers should aim for sex ratios that facilitate inbreeding avoidance, especially in small and isolated populations. © 2014 The Author(s) Published by the Royal Society. All rights reserved.

  15. The reliability and validity of a three-camera foot image system for obtaining foot anthropometrics.

    PubMed

    O'Meara, Damien; Vanwanseele, Benedicte; Hunt, Adrienne; Smith, Richard

    2010-08-01

    The purpose was to develop a foot image capture and measurement system with web cameras (the 3-FIS) to provide reliable and valid foot anthropometric measures with efficiency comparable to that of the conventional method of using a handheld anthropometer. Eleven foot measures were obtained from 10 subjects using both methods. Reliability of each method was determined over 3 consecutive days using the intraclass correlation coefficient and root mean square error (RMSE). Reliability was excellent for both the 3-FIS and the handheld anthropometer for the same 10 variables, and good for the fifth metatarsophalangeal joint height. The RMSE values over 3 days ranged from 0.9 to 2.2 mm for the handheld anthropometer, and from 0.8 to 3.6 mm for the 3-FIS. The RMSE values between the 3-FIS and the handheld anthropometer were between 2.3 and 7.4 mm. The 3-FIS required less time to collect and obtain the final variables than the handheld anthropometer. The 3-FIS provided accurate and reproducible results for each of the foot variables and in less time than the conventional approach of a handheld anthropometer.

  16. Microsatellite marker analysis of the genetic variability in Hanoverian Hounds.

    PubMed

    Lüpke, L; Distl, O

    2005-04-01

    Genetic variability of the dog breed Hanoverian Hound was analysed using a set of 16 microsatellites. The sample of 92 dogs was representative for the total current population [n=334, inbreeding coefficient 9.2%, relationship coefficient 11.2%] with respect to the level and distribution of the inbreeding and relationship coefficients. All microsatellites used were in Hardy-Weinberg equilibrium. The average number of alleles was 6.4. The average observed heterozygosity (H(O)) was slightly higher than the expected heterozygosity (H(E)). Dinucleotide microsatellites exhibited lower polymorphism information content (PIC) than tetranucleotide microsatellites (0.52 versus 0.66). The average PIC was 0.61. The individual inbreeding coefficient was negatively related to the average H(O) of all microsatellites, whereas the proportion of genes from introducing of Hanoverian Hounds from abroad showed no relationships to H(O). We found that the genetic variability in the Hanoverian Hounds analysed here was unexpectedly higher than that previously published for dog breeds of similar population size. Even in dog breeds of larger population size heterogyzosity was seldom higher than that observed here. The rather high genetic variability as quantified by polymorphic microsatellites in Hanoverian Hounds may be due to a large genetic variation in the founder animals of this breed and to the fact that this genetic diversity could be maintained despite genetic bottlenecks experienced by this breed in the 1920s and 1950s and despite the presence of high inbreeding and relationship coefficients for more than 50 years.

  17. Life history correlates of inbreeding depression in mandrills (Mandrillus sphinx).

    PubMed

    Charpentier, M; Setchell, J M; Prugnolle, F; Wickings, E J; Peignot, P; Balloux, F; Hossaert-McKey, M

    2006-01-01

    Inbreeding depression reflects the negative consequences of increased homozygosity at genes that affect fitness. We investigate inbreeding depression in a semi-free-ranging colony of mandrills (Mandrillus sphinx), using high-quality pedigree data, comprising five maternal generations and 20 years of morphological and demographic data. We examine the relationship between inbreeding coefficients and four fitness correlates: two growth parameters (mass and height for age) and longevity in both sexes, and age at first conception in females. Inbreeding was correlated with both growth parameters, but only in females, with inbred females being smaller than noninbred females. Inbreeding was also correlated significantly with age at first conception, with inbred females giving birth earlier in life than noninbred females. We suggest that sex-biased maternal investment may explain this sex-differential response to inbreeding, although the lack of a significant association between inbreeding and growth in males may also be due to the provisioned nature of the colony. The surprising relationship between age at first conception and inbreeding may be related to smaller adult size in inbred females, or to their being less able to escape from male sexual coercion.

  18. The effects of inbreeding on disease susceptibility: Gyrodactylus turnbulli infection of guppies, Poecilia reticulata.

    PubMed

    Smallbone, Willow; van Oosterhout, Cock; Cable, Jo

    2016-08-01

    Inbreeding can threaten population persistence by reducing disease resistance through the accelerated loss of gene diversity (i.e. heterozygosity). Such inbreeding depression can affect many different fitness-related traits, including survival, reproductive success, and parasite susceptibility. Empirically quantifying the effects of inbreeding on parasite resistance is therefore important for ex-situ conservation of vertebrates. The present study evaluates the disease susceptibility of individuals bred under three different breeding regimes (inbred, crossed with full siblings; control, randomly crossed mating; and fully outbred). Specifically, we examined the relationship between inbreeding coefficient (F-coefficient) and susceptibility to Gyrodactylus turnbulli infection in a live bearing vertebrate, the guppy Poecilia reticulata. Host-breeding regime significantly affected the trajectories of parasite population growth on individual fish. Inbred fish showed significantly higher mean parasite intensity than fish from the control and outbred breeding regimes, and in addition, inbred fish were slower in purging their gyrodactylid infections. We discuss the role of inbreeding on the various arms of the immune system, and argue that the increased disease susceptibility of inbred individuals could contribute to the extinction vortex. This is one of the first studies to quantify the effects of inbreeding and breeding regime on disease susceptibility in a captive bred vertebrate of wild origin, and it highlights the risks faced by small (captive-bred) populations when exposed to their native parasites. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  19. Mexican mestizo population sub-structure: effects on genetic and forensic statistical parameters.

    PubMed

    Noris, Gino; Santana, Carla; Meraz-Ríos, Marco Antonio; de Lourdes Munoz, María; Majluf-Cruz, Abraham; Magaña, Jonathan J; Granados, Julio; Quezada, Rosa; Revilla, María Cristina; Martínez-Salas, Sergio; Xihuitl, Salvador; Martínez de la Escalera, Gonzalo; Díaz-Badillo, Alvaro; Calderon-Aranda, Emma S; Gómez, Rocío

    2012-12-01

    Since Mexican mestizos are an admixed population, it is necessary to determine the effects that the substructure of the population has on genetic and forensic parameters. With this aim, a study was performed with 15 STR loci (CODIS plus D2S1338 and D19S433) on 1,640 unrelated Mexican mestizos. We determine allele and genotypic frequencies observing departure from Hardy-Weinberg expectation (12 out of 15 loci, with an excess of homozygotes, Fis > 0), as well as pairs of loci in an apparent linkage disequilibrium (13 of 92 loci). We conducted a test for genetic population stratification, the results show that the Mexican mestizo population is substructured into three subgroups, which are in HW and linkage equilibrium. The combination of the 15 loci in the whole population has high forensic efficiency with the capacity to genetically discriminate one individual in one quintillion (1/10(18)). Our data potentially validates the use of these 15 STR loci to establish forensic identity and parentage testing for legal purposes, and offers a powerful tool for genetic variation analysis. However, given that the population is stratified, we highly recommend applying a correction with the inbreeding coefficient in calculations of paternity and forensic studies to avoid erroneous assumptions.

  20. Population genetic structure analysis and effect of inbreeding on body weights at different ages in Iranian Mehraban sheep.

    PubMed

    Yavarifard, Roya; Ghavi Hossein-Zadeh, Navid; Shadparvar, Abdol Ahad

    2014-01-01

    The objective of this study was to describe the population structure and inbreeding, and to quantify their effects on weights at different ages of Mehraban sheep in Iran. The analysis was based on the pedigree information of 26990 animals and 10278 body weight records from birth to yearling age. Data and pedigree information were collected during 1994 to 2011 by the breeding station of Mehraban sheep. The population structure was analyzed using the CFC program. Inbreeding of all animals was calculated by INBUPGF90 program. All animals were grouped into three classes according to their inbreeding coefficients: the first class included non-inbred animals (F=0); and the second and third classes included inbred animals (0

  1. Effective Size of Nonrandom Mating Populations

    PubMed Central

    Caballero, A.; Hill, W. G.

    1992-01-01

    Nonrandom mating whereby parents are related is expected to cause a reduction in effective population size because their gene frequencies are correlated and this will increase the genetic drift. The published equation for the variance effective size, N(e), which includes the possibility of nonrandom mating, does not take into account such a correlation, however. Further, previous equations to predict effective sizes in populations with partial sib mating are shown to be different, but also incorrect. In this paper, a corrected form of these equations is derived and checked by stochastic simulation. For the case of stable census number, N, and equal progeny distributions for each sex, the equation is & where S(k)(2) is the variance of family size and α is the departure from Hardy-Weinberg proportions. For a Poisson distribution of family size (S(k)(2) = 2), it reduces to N(e) = N/(1 + α), as when inbreeding is due to selfing. When nonrandom mating occurs because there is a specified system of partial inbreeding every generation, α can be substituted by Wright's F(IS) statistic, to give the effective size as a function of the proportion of inbred mates. PMID:1582565

  2. Efficient path-based computations on pedigree graphs with compact encodings

    PubMed Central

    2012-01-01

    A pedigree is a diagram of family relationships, and it is often used to determine the mode of inheritance (dominant, recessive, etc.) of genetic diseases. Along with rapidly growing knowledge of genetics and accumulation of genealogy information, pedigree data is becoming increasingly important. In large pedigree graphs, path-based methods for efficiently computing genealogical measurements, such as inbreeding and kinship coefficients of individuals, depend on efficient identification and processing of paths. In this paper, we propose a new compact path encoding scheme on large pedigrees, accompanied by an efficient algorithm for identifying paths. We demonstrate the utilization of our proposed method by applying it to the inbreeding coefficient computation. We present time and space complexity analysis, and also manifest the efficiency of our method for evaluating inbreeding coefficients as compared to previous methods by experimental results using pedigree graphs with real and synthetic data. Both theoretical and experimental results demonstrate that our method is more scalable and efficient than previous methods in terms of time and space requirements. PMID:22536898

  3. Sex linked versus autosomal inbreeding coefficient in close consanguineous marriages in the Basque country and Castile (Spain): genetic implications.

    PubMed

    Calderón, R; Morales, B; Peña, J A; Delgado, J

    1995-10-01

    Pedigree structures of 161 uncle/niece-aunt/nephew and 4420 first cousin consanguineous marriages registered during the 19th and 20th centuries in two large and very different Spanish regions have been analysed and their genetic consequences evaluated. The frequencies of the different pedigree subtypes within each degree of relationship were quite similar in both populations despite significant heterogeneity in inbreeding patterns. The mean X-linked inbreeding coefficient (Fx) for each type of cousin mating was calculated and compared to that expected for autosomal genes (F). The effect of genealogical structure on the Fx/F ratio was compared to different cultural populations worldwide. Preferentiality and avoidance of close consanguinity along with specific types of pedigrees are discussed on the basis of premarital migration and sociocultural rules still deeply rooted in certain human groups. By admitting that the observed Fx coefficient is usually higher than F in most human populations some remarks have been made in terms of population genetic risk.

  4. Three-gene identity coefficients demonstrate that clonal reproduction promotes inbreeding and spatial relatedness in yellow-cedar, Callitropsis nootkatensis.

    PubMed

    Thompson, Stacey Lee; Bérubé, Yanik; Bruneau, Anne; Ritland, Kermit

    2008-10-01

    Asexual reproduction has the potential to promote population structuring through matings between clones as well as through limited dispersal of related progeny. Here we present an application of three-gene identity coefficients that tests whether clonal reproduction promotes inbreeding and spatial relatedness within populations. With this method, the first two genes are sampled to estimate pairwise relatedness or inbreeding, whereas the third gene is sampled from either a clone or a sexually derived individual. If three-gene coefficients are significantly greater for clones than nonclones, then clonality contributes excessively to genetic structure. First, we describe an estimator of three-gene identity and briefly evaluate its properties. We then use this estimator to test the effect of clonality on the genetic structure within populations of yellow-cedar (Callitropsis nootkatensis) using a molecular marker survey. Five microsatellite loci were genotyped for 485 trees sampled from nine populations. Our three-gene analyses show that clonal ramets promote inbreeding and spatial structure in most populations. Among-population correlations between clonal extent and genetic structure generally support these trends, yet with less statistical significance. Clones appear to contribute to genetic structure through the limited dispersal of offspring from replicated ramets of the same clonal genet, whereas this structure is likely maintained by mating among these relatives.

  5. Sporophytic inbreeding depression in mosses occurs in a species with separate sexes but not in a species with combined sexes.

    PubMed

    Taylor, Philip J; Eppley, Sarah M; Jesson, Linley K

    2007-11-01

    Inbreeding depression is a critical factor countering the evolution of inbreeding and thus potentially shaping the evolution of plant sexual systems. Current theory predicts that inbreeding depression could have important evolutionary consequences, even in haploid-dominant organisms. To date, no data have been reported on inbreeding depression in moss species. Here, we present data on the magnitude of inbreeding depression in sporophytic traits of moss species with contrasting breeding systems. In Ceratodon purpureus (Ditrichaceae), a moss species with separate sexes, self-fertilizations between sibling gametophytes (intergametophytic selfing) significantly reduced fitness in two of four traits quantified, with seta length and capsule length having inbreeding coefficients significantly different from zero, resulting in a cumulative inbreeding depression that was also significantly greater than zero (δ = 0.619 ± 0.076). In hermaphroditic Funaria hygrometrica (Funariaceae), there was no evidence of inbreeding depression in seta length, spore number, capsule mass, or capsule length resulting from sporophytes generated by self-fertilization within an individual (intragametophytic selfing), and cumulative inbreeding depression was also not different from zero (δ = 0.038 ± 0.022). These results provide evidence that, despite haploid dominance, inbreeding depression can be expressed at the diploid stage in mosses and may have implications for the evolution and maintenance of combined versus separate sexes in mosses.

  6. Effects of inbreeding on economic traits of channel catfish.

    PubMed

    Bondari, K; Dunham, R A

    1987-05-01

    Inbred channel catfish (Ictalurus punctatus) were produced from two generations of full-sib matings to study the effect of inbreeding on reproduction, growth and survival. A randomly mated control line was propagated from the same base population to be used for the evaluation of the inbred fish. First generation inbred (I1) and control (C1) lines comprised five full-sib families each. Second generation inbred (I2) and control (C2) lines were produced by mating each male catfish from the I1 or C1 line to two females in sequence, one from the I1 and one from the C1 line. The design also produced two reciprocal outcross lines to be compared to their contemporary inbred and control lines. The coefficient of inbreeding for the inbred line increased from 0.25 in generation 1 to 0.375 in generation 2. The inbreeding coefficient was zero for all other lines. The resulting fish were performance tested in two locations, Tifton, Georgia and Auburn, Alabama and no genotype-environment interactions occurred. Results indicated that one generation of inbreeding increased number of days required for eggs to hatch by 21%, but did not significantly influence spawn weight or hatchability score. However, inbred females produced more eggs/kg body weight than control females. Two generations of full-sib mating in Georgia did not depress weight when expressed as a deviation to random controls but was depressed 13-16% when expressed as a deviation to half-sib out-crosses. Second generation inbreds produced in Alabama exhibited a 19% depression for growth rate when compared to either random or half-sib outcross controls. Survival rates at various age intervals was not decreased by inbreeding. The amount of inbreeding depression varied among families and between sexes.

  7. Inbreeding depression by environment interactions in a free-living mammal population

    PubMed Central

    Pemberton, J M; Ellis, P E; Pilkington, J G; Bérénos, C

    2017-01-01

    Experimental studies often find that inbreeding depression is more severe in harsh environments, but the few studies of in situ wild populations available to date rarely find strong support for this effect. We investigated evidence for inbreeding depression by environment interactions in nine traits in the individually monitored Soay sheep population of St Kilda, using genomic inbreeding coefficients based on 37 037 single-nucleotide polymorphism loci, and population density as an axis of environmental variation. All traits showed variation with population density and all traits showed some evidence for depression because of either an individual's own inbreeding or maternal inbreeding. However, only six traits showed evidence for an interaction in the expected direction, and only two interactions were statistically significant. We identify three possible reasons why wild population studies may generally fail to find strong support for interactions between inbreeding depression and environmental variation compared with experimental studies. First, for species with biparental inbreeding only, the amount of observed inbreeding in natural populations is generally low compared with that used in experimental studies. Second, it is possible that experimental studies sometimes actually impose higher levels of stress than organisms experience in the wild. Third, some purging of the deleterious recessive alleles that underpin interaction effects may occur in the wild. PMID:27876804

  8. Inbreeding depression by environment interactions in a free-living mammal population.

    PubMed

    Pemberton, J M; Ellis, P E; Pilkington, J G; Bérénos, C

    2017-01-01

    Experimental studies often find that inbreeding depression is more severe in harsh environments, but the few studies of in situ wild populations available to date rarely find strong support for this effect. We investigated evidence for inbreeding depression by environment interactions in nine traits in the individually monitored Soay sheep population of St Kilda, using genomic inbreeding coefficients based on 37 037 single-nucleotide polymorphism loci, and population density as an axis of environmental variation. All traits showed variation with population density and all traits showed some evidence for depression because of either an individual's own inbreeding or maternal inbreeding. However, only six traits showed evidence for an interaction in the expected direction, and only two interactions were statistically significant. We identify three possible reasons why wild population studies may generally fail to find strong support for interactions between inbreeding depression and environmental variation compared with experimental studies. First, for species with biparental inbreeding only, the amount of observed inbreeding in natural populations is generally low compared with that used in experimental studies. Second, it is possible that experimental studies sometimes actually impose higher levels of stress than organisms experience in the wild. Third, some purging of the deleterious recessive alleles that underpin interaction effects may occur in the wild.

  9. Inbreeding depression in a critically endangered carnivore.

    PubMed

    Norén, Karin; Godoy, Erika; Dalén, Love; Meijer, Tomas; Angerbjörn, Anders

    2016-07-01

    Harmful effects arising from matings between relatives (inbreeding) is a long-standing observation that is well founded in theory. Empirical evidence for inbreeding depression in natural populations is however rare because of the challenges of assembling pedigrees supplemented with fitness traits. We examined the occurrence of inbreeding and subsequent inbreeding depression using a unique data set containing a genetically verified pedigree with individual fitness traits for a critically endangered arctic fox (Vulpes lagopus) population. The study covered nine years and was comprised of 33 litters with a total of 205 individuals. We recorded that the present population was founded by only five individuals. Over the study period, the population exhibited a tenfold increase in average inbreeding coefficient with a final level corresponding to half-sib matings. Inbreeding mainly occurred between cousins, but we also observed two cases of full-sib matings. The pedigree data demonstrated clear evidence of inbreeding depression on traditional fitness traits where inbred individuals displayed reduced survival and reproduction. Fitness traits were however differently affected by the fluctuating resource abundande. Inbred individuals born at low-quality years displayed reduced first-year survival, while inbred individuals born at high-quality years were less likely to reproduce. The documentation of inbreeding depression in fundamental fitness traits suggests that inbreeding depression can limit population recovery. Introducing new genetic material to promote a genetic rescue effect may thus be necessary for population long-term persistence. © 2016 John Wiley & Sons Ltd.

  10. Estimating inbreeding rates in natural populations: Addressing the problem of incomplete pedigrees

    USGS Publications Warehouse

    Miller, Mark P.; Haig, Susan M.; Ballou, Jonathan D.; Steel, E. Ashley

    2017-01-01

    Understanding and estimating inbreeding is essential for managing threatened and endangered wildlife populations. However, determination of inbreeding rates in natural populations is confounded by incomplete parentage information. We present an approach for quantifying inbreeding rates for populations with incomplete parentage information. The approach exploits knowledge of pedigree configurations that lead to inbreeding coefficients of F = 0.25 and F = 0.125, allowing for quantification of Pr(I|k): the probability of observing pedigree I given the fraction of known parents (k). We developed analytical expressions under simplifying assumptions that define properties and behavior of inbreeding rate estimators for varying values of k. We demonstrated that inbreeding is overestimated if Pr(I|k) is not taken into consideration and that bias is primarily influenced by k. By contrast, our new estimator, incorporating Pr(I|k), is unbiased over a wide range of values of kthat may be observed in empirical studies. Stochastic computer simulations that allowed complex inter- and intragenerational inbreeding produced similar results. We illustrate the effects that accounting for Pr(I|k) can have in empirical data by revisiting published analyses of Arabian oryx (Oryx leucoryx) and Red deer (Cervus elaphus). Our results demonstrate that incomplete pedigrees are not barriers for quantifying inbreeding in wild populations. Application of our approach will permit a better understanding of the role that inbreeding plays in the dynamics of populations of threatened and endangered species and may help refine our understanding of inbreeding avoidance mechanisms in the wild.

  11. Consanguineous marriages in Afghanistan.

    PubMed

    Saify, Khyber; Saadat, Mostafa

    2012-01-01

    The present cross-sectional study was done in order to illustrate the prevalence and types of consanguineous marriages among Afghanistan populations. Data on types of marriages were collected using a simple questionnaire. The total number of couples in the study was 7140 from the following provinces: Badakhshan, Baghlan, Balkh, Bamyan, Kabul, Kunduz, Samangan and Takhar. Consanguineous marriages were classified by the degree of relationship between couples: double first cousins, first cousins, first cousins once removed, second cousins and beyond second cousins. The coefficient of inbreeding (F) was calculated for each couple and the mean coefficient of inbreeding (α) estimated for each population. The proportion of consanguineous marriages in the country was 46.2%, ranging from 38.2% in Kabul province to 51.2% in Bamyan province. The equivalent mean inbreeding coefficient (α) was 0.0277, and ranged from 0.0221 to 0.0293 in these two regions. There were significant differences between provinces for frequencies of different types of marriages (p<0.001). First cousin marriages (27.8%) were the most common type of consanguineous marriages, followed by double first cousin (6.9%), second cousin (5.8%), beyond second cousin (3.9%) and first cousin once removed (1.8%). There were significant differences between ethnic groups for the types of marriages (χ2=177.6, df=25, p<0.001). Tajiks (Soni) and Turkmens (also Pashtuns) showed the lowest (α=0.0250) and highest (α=0.0297) mean inbreeding coefficients, respectively, among the ethnic groups in Afghanistan. The study shows that Afghanistan's populations, like other Islamic populations, have a high level of consanguinity.

  12. Pollination Mode and Mating System Explain Patterns in Genetic Differentiation in Neotropical Plants

    PubMed Central

    Ballesteros-Mejia, Liliana; Lima, Natácia E.; Lima-Ribeiro, Matheus S.

    2016-01-01

    We studied genetic diversity and differentiation patterns in Neotropical plants to address effects of life history traits (LHT) and ecological attributes based on an exhaustive literature survey. We used generalized linear mixed models (GLMMs) to test the effects as fixed and random factors of growth form, pollination and dispersal modes, mating and breeding systems, geographical range and habitat on patterns of genetic diversity (HS, HeS, π and h), inbreeding coefficient (FIS), allelic richness (AR) and differentiation among populations (FST) for both nuclear and chloroplast genomes. In addition, we used phylogenetic generalized least squares (pGLS) to account for phylogenetic independence on predictor variables and verify the robustness of the results from significant GLMMs. In general, GLMM revealed more significant relationships among LHTs and genetic patterns than pGLS. After accounting for phylogenetic independence (i.e., using pGLS), FST for nuclear microsatellites was significantly related to pollination mode, mating system and habitat. Plants specifically with outcrossing mating system had lower FST. Moreover, AR was significantly related to pollination mode and geographical range and HeS for nuclear dominant markers was significantly related to habitat. Our findings showed that different results might be retrieved when phylogenetic non-independence is taken into account and that LHTs and ecological attributes affect substantially the genetic pattern in Neotropical plants, hence may drive key evolutionary processes in plants. PMID:27472384

  13. Heritabilities and genetic correlations of economic traits in Iranian native fowl and estimated genetic trend and inbreeding coefficients.

    PubMed

    Kamali, M A; Ghorbani, S H; Sharbabak, M Moradi; Zamiri, M J

    2007-08-01

    1. Genetic parameters were estimated in a base population of a closed experimental strain of fowl. Data were obtained on 21 245 Iranian native hens (breeding centre for Fars province) subject to 8 successive generations of selection. This population had been selected for body weight at 12 weeks of age (BW12) and egg number during the first 12 weeks of the laying period (EN), mean egg weight (EW) at weeks 28, 30 and 32, and age at sexual maturity (ASM). 2. The method of multi-traits restricted maximum likelihood with an animal model was used to estimate genetic parameters. Resulting heritabilities for BW12, EN, EW and ASM were 0.68 +/- 0.02, 0.40 +/- 0.02, 0.64 +/- 0.02 and 0.49 +/- 0.02, respectively. 3. Genetic correlations between BW12 and EN, EW and ASM were 0.11 +/- 0.33, 0.54 +/- 0.21 and -0.12 +/- 0.03, respectively. Genetic correlations between EN and EW and ASM were -0.09 +/- 0.03 and -0.85 +/- 0.01, respectively, while between EW and ASM, it was 0.05 +/- 0.03. 4. The overall predicted genetic gains, after 7 generations of selection, estimated by the regression coefficients of the breeding value on generation number were equal to 22.7, 0.17, 0.04 and -1.38, for BW12, EN, EW and ASM, respectively. 5. A pedigree file of 21 245 female and male birds was used to calculate inbreeding coefficients and their influence on production and reproduction traits. Average inbreeding coefficients for all birds, inbred birds, female birds and male birds were 0.048, 0.673, 0.055 and 0.047%, respectively. Regression coefficients of BW12, ASM, EN and EW on inbreeding coefficient for all birds were equal to 0.51 +/- 0.001, 0.31 +/- 0.003, -0.51 +/- 0.003 and 0.03 +/- 0.001, respectively.

  14. Inbreeding effects on immune response in free-living song sparrows (Melospiza melodia).

    PubMed

    Reid, Jane M; Arcese, Peter; Keller, Lukas F; Elliott, Kyle H; Sampson, Laura; Hasselquist, Dennis

    2007-03-07

    The consequences of inbreeding for host immunity to parasitic infection have broad implications for the evolutionary and dynamical impacts of parasites on populations where inbreeding occurs. To rigorously assess the magnitude and the prevalence of inbreeding effects on immunity, multiple components of host immune response should be related to inbreeding coefficient (f) in free-living individuals. We used a pedigreed, free-living population of song sparrows (Melospiza melodia) to test whether individual responses to widely used experimental immune challenges varied consistently with f. The patagial swelling response to phytohaemagglutinin declined markedly with f in both females and males in both 2002 and 2003, although overall inbreeding depression was greater in males. The primary antibody response to tetanus toxoid declined with f in females but not in males in both 2004 and 2005. Primary antibody responses to diphtheria toxoid were low but tended to decline with f in 2004. Overall inbreeding depression did not solely reflect particularly strong immune responses in outbred offspring of immigrant-native pairings or weak responses in highly inbred individuals. These data indicate substantial and apparently sex-specific inbreeding effects on immune response, implying that inbred hosts may be relatively susceptible to parasitic infection to differing degrees in males and females.

  15. [Maxillodental anomalies and consanguineous marriages].

    PubMed

    Garaev, Z I

    1999-01-01

    Families of 549 probands and families of 123 probands with cleft lip and/or palate were examined in order to evaluate the relationship between marriages between close relatives and the incidence and structure of maxillodental diseases. Clinical and genealogical analysis of families of probands with maxillodental abnormalities and cleft lip and/or palate showed a significantly higher incidence of marriages between close relatives and an inbreeding coefficient in these families. Analysis of the population and familial incidence of maxillodental abnormalities and the inbreeding coefficient will help the physicians consulting such families more accurately evaluate the risk and improve the efficacy of prevention of such conditions.

  16. Royal dynasties as human inbreeding laboratories: the Habsburgs

    PubMed Central

    Ceballos, F C; Álvarez, G

    2013-01-01

    The European royal dynasties of the Early Modern Age provide a useful framework for human inbreeding research. In this article, consanguineous marriage, inbreeding depression and the purging of deleterious alleles within a consanguineous population are investigated in the Habsburgs, a royal dynasty with a long history of consanguinity over generations. Genealogical information from a number of historical sources was used to compute kinship and inbreeding coefficients for the Habsburgs. The marriages contracted by the Habsburgs from 1450 to 1750 presented an extremely high mean kinship (0.0628±0.009), which was the result of the matrimonial policy conducted by the dynasty to establish political alliances through marriage. A strong inbreeding depression for both infant and child survival was detected in the progeny of 71 Habsburg marriages in the period 1450–1800. The inbreeding load for child survival experienced a pronounced decrease from 3.98±0.87 in the period 1450–1600 to 0.93±0.62 in the period 1600–1800, but temporal changes in the inbreeding depression for infant survival were not detected. Such a reduction of inbreeding depression for child survival in a relatively small number of generations could be caused by elimination of deleterious alleles of a large effect according with predictions from purging models. The differential purging of the infant and child inbreeding loads suggest that the genetic basis of inbreeding depression was probably very different for infant and child survival in the Habsburg lineage. Our findings provide empirical support that human inbreeding depression for some fitness components might be purged by selection within consanguineous populations. PMID:23572123

  17. Royal dynasties as human inbreeding laboratories: the Habsburgs.

    PubMed

    Ceballos, F C; Alvarez, G

    2013-08-01

    The European royal dynasties of the Early Modern Age provide a useful framework for human inbreeding research. In this article, consanguineous marriage, inbreeding depression and the purging of deleterious alleles within a consanguineous population are investigated in the Habsburgs, a royal dynasty with a long history of consanguinity over generations. Genealogical information from a number of historical sources was used to compute kinship and inbreeding coefficients for the Habsburgs. The marriages contracted by the Habsburgs from 1450 to 1750 presented an extremely high mean kinship (0.0628±0.009), which was the result of the matrimonial policy conducted by the dynasty to establish political alliances through marriage. A strong inbreeding depression for both infant and child survival was detected in the progeny of 71 Habsburg marriages in the period 1450-1800. The inbreeding load for child survival experienced a pronounced decrease from 3.98±0.87 in the period 1450-1600 to 0.93±0.62 in the period 1600-1800, but temporal changes in the inbreeding depression for infant survival were not detected. Such a reduction of inbreeding depression for child survival in a relatively small number of generations could be caused by elimination of deleterious alleles of a large effect according with predictions from purging models. The differential purging of the infant and child inbreeding loads suggest that the genetic basis of inbreeding depression was probably very different for infant and child survival in the Habsburg lineage. Our findings provide empirical support that human inbreeding depression for some fitness components might be purged by selection within consanguineous populations.

  18. Inbreeding Depression and Male Survivorship in Drosophila: Implications for Senescence Theory

    PubMed Central

    Swindell, William R.; Bouzat, Juan L.

    2006-01-01

    The extent to which inbreeding depression affects longevity and patterns of survivorship is an important issue from several research perspectives, including evolutionary biology, conservation biology, and the genetic analysis of quantitative traits. However, few previous inbreeding depression studies have considered longevity as a focal life-history trait. We maintained laboratory populations of Drosophila melanogaster at census population sizes of 2 and 10 male-female pairs for up to 66 generations and performed repeated assays of male survivorship throughout this time period. On average, significant levels of inbreeding depression were observed for median life span and age-specific mortality. For age-specific mortality, the severity of inbreeding depression increased over the life span. We found that a baseline inbreeding load of 0.307 lethal equivalents per gamete affected age-specific mortality, and that this value increased at a rate of 0.046 per day of the life span. With respect to some survivorship parameters, the differentiation of lineages was nonlinear with respect to the inbreeding coefficient, which suggested that nonadditive genetic variation contributed to variation among lineages. These findings provide insights into the genetic basis of longevity as a quantitative trait and have implications regarding the mutation-accumulation evolutionary explanation of senescence. PMID:16204222

  19. CONSANGUINITY AND INBREEDING COEFFICIENT IN TRIBAL PASHTUNS INHABITING THE TURBULENT AND WAR-AFFECTED TERRITORY OF BAJAUR AGENCY, NORTH-WEST PAKISTAN.

    PubMed

    Ahmad, Bashir; Rehman, Atta Ur; Malik, Sajid

    2016-01-01

    The north-western populations of Pakistan in the Federally Administered Tribal Areas (FATA) adjoining the Pakistan-Afghanistan border are an amalgamation of native and migrated Pashtun tribes. These tribal populations are in transition due to war conditions and geo-political turmoil on both sides of the border since the Soviet invasion in 1979. Bio-demographic and epidemiological data for these tribes are scarce. A prospective cross-sectional sample of 967 males was selected from a representative Pashtun population of Bajaur Agency, and information obtained on bio-demographic variables and marital union types. Analysis of these data revealed that consanguinity was 22.34% and the inbreeding coefficient F was calculated to be 0.0134. The inbreeding coefficient was observed to be higher in subjects who were illiterate, had unskilled jobs and who belonged to younger age categories, extended families and the Tarkalani tribe. Further analyses with respect to temporal variables like subject's age, year of marriage and age at marriage revealed that after a transition in marital union types in the early 80s, there has been a declining trend in the rate of consanguineous unions. Further, consanguineous unions in the parental generation were only 5%, but parental marriage types were predictors of subjects' marital union types. The data further establish that, contrary to a general notion about a high consanguinity rate in Pakistan, consanguineous unions are not common in Bajaur Agency and first cousin marriage is not the preferred type. Furthermore, this research shows that there is a great regional variation in the pattern of consanguinity in Pakistan that needs to be documented in order to draw a more comprehensive picture of the inbreeding coefficient in the country.

  20. Genome-wide analysis of the diversity and ancestry of Korean dogs.

    PubMed

    Choi, Bong Hwan; Wijayananda, Hasini I; Lee, Soo Hyun; Lee, Doo Ho; Kim, Jong Seok; Oh, Seok Il; Park, Eung Woo; Lee, Cheul Koo; Lee, Seung Hwan

    2017-01-01

    There are various hypotheses on dog domestication based on archeological and genetic studies. Although many studies have been conducted on the origin of dogs, the existing literature about the ancestry, diversity, and population structure of Korean dogs is sparse. Therefore, this study is focused on the origin, diversity and population structure of Korean dogs. The study sample comprised four major categories, including non-dogs (coyotes and wolves), ancient, modern and Korean dogs. Selected samples were genotyped using an Illumina CanineHD array containing 173,662 single nucleotide polymorphisms. The genome-wide data were filtered using quality control parameters in PLINK 1.9. Only autosomal chromosomes were used for further analysis. The negative off-diagonal variance of the genetic relationship matrix analysis depicted, the variability of samples in each population. FIS (inbreeding rate within a population) values indicated, a low level of inbreeding within populations, and the patterns were in concordance with the results of Nei's genetic distance analysis. The lowest FST (inbreeding rate between populations) values among Korean and Chinese breeds, using a phylogenetic tree, multi-dimensional scaling, and a TreeMix likelihood tree showed Korean breeds are highly related to Chinese breeds. The Korean breeds possessed a unique and large diversity of admixtures compared with other breeds. The highest and lowest effective population sizes were observed in Korean Jindo Black (485) and Korean Donggyeong White (109), respectively. The historical effective population size of all Korean dogs showed declining trend from the past to present. It is important to take immediate action to protect the Korean dog population while conserving their diversity. Furthermore, this study suggests that Korean dogs have unique diversity and are one of the basal lineages of East Asian dogs, originating from China.

  1. Genome-wide analysis of the diversity and ancestry of Korean dogs

    PubMed Central

    Lee, Doo Ho; Kim, Jong Seok; Oh, Seok Il; Park, Eung Woo; Lee, Cheul Koo; Lee, Seung Hwan

    2017-01-01

    There are various hypotheses on dog domestication based on archeological and genetic studies. Although many studies have been conducted on the origin of dogs, the existing literature about the ancestry, diversity, and population structure of Korean dogs is sparse. Therefore, this study is focused on the origin, diversity and population structure of Korean dogs. The study sample comprised four major categories, including non-dogs (coyotes and wolves), ancient, modern and Korean dogs. Selected samples were genotyped using an Illumina CanineHD array containing 173,662 single nucleotide polymorphisms. The genome-wide data were filtered using quality control parameters in PLINK 1.9. Only autosomal chromosomes were used for further analysis. The negative off-diagonal variance of the genetic relationship matrix analysis depicted, the variability of samples in each population. FIS (inbreeding rate within a population) values indicated, a low level of inbreeding within populations, and the patterns were in concordance with the results of Nei’s genetic distance analysis. The lowest FST (inbreeding rate between populations) values among Korean and Chinese breeds, using a phylogenetic tree, multi-dimensional scaling, and a TreeMix likelihood tree showed Korean breeds are highly related to Chinese breeds. The Korean breeds possessed a unique and large diversity of admixtures compared with other breeds. The highest and lowest effective population sizes were observed in Korean Jindo Black (485) and Korean Donggyeong White (109), respectively. The historical effective population size of all Korean dogs showed declining trend from the past to present. It is important to take immediate action to protect the Korean dog population while conserving their diversity. Furthermore, this study suggests that Korean dogs have unique diversity and are one of the basal lineages of East Asian dogs, originating from China. PMID:29182674

  2. Inbreeding in Gredos mountain range (Spain): contribution of multiple consanguinity and intervalley variation.

    PubMed

    Fuster, V; Jiménez, A M; Colantonio, S E

    2001-04-01

    The present paper examines consanguineous marriages occurring between 1874 and 1975 in three valleys (Tormes, Alberche, and Tiétar) in the Sierra de Gredos mountain range, Avila province, Spain. Information was obtained from parish registers of 42 localities, corresponding to a total of 41,696 weddings. Consanguineous marriages were defined as those up to the third degree of consanguinity (second cousins). From 1874 to 1975 the percentage of related mates was 4.45% and the inbreeding coefficient was 0.0011868 (for 1874 to 1917 corresponding figures up to the fourth degree were 16.44% and 0.00 19085, respectively). In order to ascertain the characteristics and evolution of mating patterns in Gredos, the contribution of each degree of kinship was analyzed as a whole and then for each valley separately. Regarding total consanguineous marriages in Gredos, there is a low frequency of uncle-niece matings (0.21%) and a first-second cousin mating ratio (C22/C33) of 0.23 (up to the third degree of consanguinity). Before 1918 multiple matings (i.e., those involving more than a single relationship) accounted for 19.16% of consanguineous marriages (up to the fourth degree). The observed frequencies of multiple consanguineous marriages was, on average, about twice that expected at random, and the proportion of such marriages to total inbreeding was 34.65%. The temporal change of the Gredos inbreeding pattern was characterized by a recent decrease; the highest inbreeding levels correspond to the period from 1915 to 1944. Finally, intervalley differences (maximum inbreeding coefficient in the Tormes, minimum in the Tiétar) are interpreted considering the geography, population size, and population mobility for each valley

  3. Invited review: Inbreeding in the genomics era: Inbreeding, inbreeding depression, and management of genomic variability.

    PubMed

    Howard, Jeremy T; Pryce, Jennie E; Baes, Christine; Maltecca, Christian

    2017-08-01

    Traditionally, pedigree-based relationship coefficients have been used to manage the inbreeding and degree of inbreeding depression that exists within a population. The widespread incorporation of genomic information in dairy cattle genetic evaluations allows for the opportunity to develop and implement methods to manage populations at the genomic level. As a result, the realized proportion of the genome that 2 individuals share can be more accurately estimated instead of using pedigree information to estimate the expected proportion of shared alleles. Furthermore, genomic information allows genome-wide relationship or inbreeding estimates to be augmented to characterize relationships for specific regions of the genome. Region-specific stretches can be used to more effectively manage areas of low genetic diversity or areas that, when homozygous, result in reduced performance across economically important traits. The use of region-specific metrics should allow breeders to more precisely manage the trade-off between the genetic value of the progeny and undesirable side effects associated with inbreeding. Methods tailored toward more effectively identifying regions affected by inbreeding and their associated use to manage the genome at the herd level, however, still need to be developed. We have reviewed topics related to inbreeding, measures of relatedness, genetic diversity and methods to manage populations at the genomic level, and we discuss future challenges related to managing populations through implementing genomic methods at the herd and population levels. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  4. Comparative Analysis of Genome Diversity in Bullmastiff Dogs

    PubMed Central

    Mortlock, Sally-Anne; Khatkar, Mehar S.; Williamson, Peter

    2016-01-01

    Management and preservation of genomic diversity in dog breeds is a major objective for maintaining health. The present study was undertaken to characterise genomic diversity in Bullmastiff dogs using both genealogical and molecular analysis. Genealogical analysis of diversity was conducted using a database consisting of 16,378 Bullmastiff pedigrees from year 1980 to 2013. Additionally, a total of 188 Bullmastiff dogs were genotyped using the 170,000 SNP Illumina CanineHD Beadchip. Genealogical parameters revealed a mean inbreeding coefficient of 0.047; 142 total founders (f); an effective number of founders (fe) of 79; an effective number of ancestors (fa) of 62; and an effective population size of the reference population of 41. Genetic diversity and the degree of genome-wide homogeneity within the breed were also investigated using molecular data. Multiple-locus heterozygosity (MLH) was equal to 0.206; runs of homozygosity (ROH) as proportion of the genome, averaged 16.44%; effective population size was 29.1, with an average inbreeding coefficient of 0.035, all estimated using SNP Data. Fine-scale population structure was analysed using NETVIEW, a population analysis pipeline. Visualisation of the high definition network captured relationships among individuals within and between subpopulations. Effects of unequal founder use, and ancestral inbreeding and selection, were evident. While current levels of Bullmastiff heterozygosity, inbreeding and homozygosity are not unusual, a relatively small effective population size indicates that a breeding strategy to reduce the inbreeding rate may be beneficial. PMID:26824579

  5. Statistical inference for Hardy-Weinberg proportions in the presence of missing genotype information.

    PubMed

    Graffelman, Jan; Sánchez, Milagros; Cook, Samantha; Moreno, Victor

    2013-01-01

    In genetic association studies, tests for Hardy-Weinberg proportions are often employed as a quality control checking procedure. Missing genotypes are typically discarded prior to testing. In this paper we show that inference for Hardy-Weinberg proportions can be biased when missing values are discarded. We propose to use multiple imputation of missing values in order to improve inference for Hardy-Weinberg proportions. For imputation we employ a multinomial logit model that uses information from allele intensities and/or neighbouring markers. Analysis of an empirical data set of single nucleotide polymorphisms possibly related to colon cancer reveals that missing genotypes are not missing completely at random. Deviation from Hardy-Weinberg proportions is mostly due to a lack of heterozygotes. Inbreeding coefficients estimated by multiple imputation of the missings are typically lowered with respect to inbreeding coefficients estimated by discarding the missings. Accounting for missings by multiple imputation qualitatively changed the results of 10 to 17% of the statistical tests performed. Estimates of inbreeding coefficients obtained by multiple imputation showed high correlation with estimates obtained by single imputation using an external reference panel. Our conclusion is that imputation of missing data leads to improved statistical inference for Hardy-Weinberg proportions.

  6. Multiple paternity and sporophytic inbreeding depression in a dioicous moss species.

    PubMed

    Szövényi, P; Ricca, M; Shaw, A J

    2009-11-01

    Multiple paternity (polyandry) frequently occurs in flowering plants and animals and is assumed to have an important function in the evolution of reproductive traits. Polyandry in bryophytes may occur among multiple sporophytes of a female gametophyte; however, its occurrence and extent is unknown. In this study we investigate the occurrence and extent of multiple paternity, spatial genetic structure, and sporophytic inbreeding depression in natural populations of a dioicous bryophyte species, Sphagnum lescurii, using microsatellite markers. Multiple paternity is prevalent among sporophytes of a female gametophyte and male genotypes exhibit significant skew in paternity. Despite significant spatial genetic structure in the population, suggesting frequent inbreeding, the number of inbred and outbred sporophytes was balanced, resulting in an average fixation coefficient and population level selfing rate of zero. In line with the prediction of sporophytic inbreeding depression sporophyte size was significantly correlated with the level of heterozygosity. Furthermore, female gametophytes preferentially supported sporophytes with higher heterozygosity. These results indicate that polyandry provides the opportunity for postfertilization selection in bryophytes having short fertilization distances and spatially structured populations facilitating inbreeding. Preferential maternal support of the more heterozygous sporophytes suggests active inbreeding avoidance that may have significant implications for mating system evolution in bryophytes.

  7. Genomic inbreeding estimation in small populations: evaluation of runs of homozygosity in three local dairy cattle breeds.

    PubMed

    Mastrangelo, S; Tolone, M; Di Gerlando, R; Fontanesi, L; Sardina, M T; Portolano, B

    2016-05-01

    In the local breeds with small population size, one of the most important problems is the increase of inbreeding coefficient (F). High levels of inbreeding lead to reduced genetic diversity and inbreeding depression. The availability of high-density single nucleotide polymorphism (SNP) arrays has facilitated the quantification of F by genomic markers in farm animals. Runs of homozygosity (ROH) are contiguous lengths of homozygous genotypes and represent an estimate of the degree of autozygosity at genome-wide level. The current study aims to quantify the genomic F derived from ROH (F ROH) in three local dairy cattle breeds. F ROH values were compared with F estimated from the genomic relationship matrix (F GRM), based on the difference between observed v. expected number of homozygous genotypes (F HOM) and the genomic homozygosity of individual i (F MOL i ). The molecular coancestry coefficient (f MOL ij ) between individuals i and j was also estimated. Individuals of Cinisara (71), Modicana (72) and Reggiana (168) were genotyped with the 50K v2 Illumina BeadChip. Genotypes from 96 animals of Italian Holstein cattle breed were also included in the analysis. We used a definition of ROH as tracts of homozygous genotypes that were >4 Mb. Among breeds, 3661 ROH were identified. Modicana showed the highest mean number of ROH per individual and the highest value of F ROH, whereas Reggiana showed the lowest ones. Differences among breeds existed for the ROH lengths. The individuals of Italian Holstein showed high number of short ROH segments, related to ancient consanguinity. Similar results showed the Reggiana with some extreme animals with segments covering 400 Mb and more of genome. Modicana and Cinisara showed similar results between them with the total length of ROH characterized by the presence of large segments. High correlation was found between F HOM and F ROH ranged from 0.83 in Reggiana to 0.95 in Cinisara and Modicana. The correlations among F ROH and other estimated F coefficients were generally lower ranged from 0.45 (F MOL i -F ROH) in Cinisara to 0.17 (F GRM-F ROH) in Modicana. On the basis of our results, recent inbreeding was observed in local breeds, considering that 16 Mb segments are expected to present inbreeding up to three generations ago. Our results showed the necessity of implementing conservation programs to control the rise of inbreeding and coancestry in the three Italian local dairy cattle breeds.

  8. Consanguineous Marriage as a Risk Factor for Developing Keratoconus

    PubMed Central

    JAMALI, Hossein; BEIGI, Vahid; SADEGHI-SARVESTANI, Ali

    2018-01-01

    Heredity plays an important role in keratoconus (KC). Consanguineous marriage (CM) can affect the transmission of recessively inherited conditions. We aimed to investigate the role of consanguineous marriage in the development of KC. This study included two groups: the first group comprised 415 patients who underwent surgery for KC for the first time at Khalili University Hospital (Shiraz, Iran), between 2010 and 2014; the second group comprised 415 healthy individuals who served as age- and sex-matched controls for the patient group. All study subjects were from the Fars province in Iran. CM type was evaluated by a standard checklist in both groups. The mean inbreeding coefficient (α) was evaluated and compared between the two groups. The percentage of parental first-cousin marriages was 35.4% in the patient group and 18.3% in the control group. The mean inbreeding coefficient (α) was 0.0291 in the patient group and 0.0135 in the control group. Patients with KC had a significantly higher mean inbreeding coefficient (α) than controls (T = 8, df = 828, P < 0.001). Our study suggests that CM can play a role in the pathogenesis of KC. As this disease is among the most frequent ocular disorders in our country, CM should be considered by health care systems within their screening programs. PMID:29644240

  9. Inbreeding Avoidance Drives Consistent Variation of Fine-Scale Genetic Structure Caused by Dispersal in the Seasonal Mating System of Brandt’s Voles

    PubMed Central

    Liu, Xiao Hui; Yue, Ling Fen; Wang, Da Wei; Li, Ning; Cong, Lin

    2013-01-01

    Inbreeding depression is a major evolutionary and ecological force influencing population dynamics and the evolution of inbreeding-avoidance traits such as mating systems and dispersal. Mating systems and dispersal are fundamental determinants of population genetic structure. Resolving the relationships among genetic structure, seasonal breeding-related mating systems and dispersal will facilitate our understanding of the evolution of inbreeding avoidance. The goals of this study were as follows: (i) to determine whether females actively avoided mating with relatives in a group-living rodent species, Brandt’s voles (Lasiopodomys brandtii), by combined analysis of their mating system, dispersal and genetic structure; and (ii) to analyze the relationships among the variation in fine-genetic structure, inbreeding avoidance, season-dependent mating strategies and individual dispersal. Using both individual- and population-level analyses, we found that the majority of Brandt’s vole groups consisted of close relatives. However, both group-specific FISs, an inbreeding coefficient that expresses the expected percentage rate of homozygosity arising from a given breeding system, and relatedness of mates showed no sign of inbreeding. Using group pedigrees and paternity analysis, we show that the mating system of Brandt’s voles consists of a type of polygyny for males and extra-group polyandry for females, which may decrease inbreeding by increasing the frequency of mating among distantly-related individuals. The consistent variation in within-group relatedness, among-group relatedness and fine-scale genetic structures was mostly due to dispersal, which primarily occurred during the breeding season. Biologically relevant variation in the fine-scale genetic structure suggests that dispersal during the mating season may be a strategy to avoid inbreeding and drive the polygynous and extra-group polyandrous mating system of this species. PMID:23516435

  10. Pedigrees or markers: Which are better in estimating relatedness and inbreeding coefficient?

    PubMed

    Wang, Jinliang

    2016-02-01

    Individual inbreeding coefficient (F) and pairwise relatedness (r) are fundamental parameters in population genetics and have important applications in diverse fields such as human medicine, forensics, plant and animal breeding, conservation and evolutionary biology. Traditionally, both parameters are calculated from pedigrees, but are now increasingly estimated from genetic marker data. Conceptually, a pedigree gives the expected F and r values, FP and rP, with the expectations being taken (hypothetically) over an infinite number of individuals with the same pedigree. In contrast, markers give the realised (actual) F and r values at the particular marker loci of the particular individuals, FM and rM. Both pedigree (FP, rP) and marker (FM, rM) estimates can be used as inferences of genomic inbreeding coefficients FG and genomic relatedness rG, which are the underlying quantities relevant to most applications (such as estimating inbreeding depression and heritability) of F and r. In the pre-genomic era, it was widely accepted that pedigrees are much better than markers in delineating FG and rG, and markers should better be used to validate, amend and construct pedigrees rather than to replace them. Is this still true in the genomic era when genome-wide dense SNPs are available? In this simulation study, I showed that genomic markers can yield much better estimates of FG and rG than pedigrees when they are numerous (say, 10(4) SNPs) under realistic situations (e.g. genome and population sizes). Pedigree estimates are especially poor for species with a small genome, where FG and rG are determined to a large extent by Mendelian segregations and may thus deviate substantially from their expectations (FP and rP). Simulations also confirmed that FM, when estimated from many SNPs, can be much more powerful than FP for detecting inbreeding depression in viability. However, I argue that pedigrees cannot be replaced completely by genomic SNPs, because the former allows for the calculation of more complicated IBD coefficients (involving more than 2 individuals, more than one locus, and more than 2 genes at a locus) for which the latter may have reduced capacity or limited power, and because the former has social and other significance for remote relationships which have little genetic significance and cannot be inferred reliably from markers. Copyright © 2015 Elsevier Inc. All rights reserved.

  11. A genealogical survey of Australian registered dog breeds.

    PubMed

    Shariflou, Mohammad R; James, John W; Nicholas, Frank W; Wade, Claire M

    2011-08-01

    Breeding practices were analysed for 32 registered dog breeds representing very small registries (120 Central Asian shepherd dogs) through to very large registries (252,521 German shepherd dogs) in Australia. The vast majority (91%) of registered kennels in Australia that were sampled did not regularly employ either close breeding or popular sire usage in their kennels and the weighted mean inbreeding coefficient of Australian pedigree dogs was <5%. Australian breed mean inbreeding coefficients ranged from 0% (Central Asian shepherd dog) to 10.1% (Bichon Frise). Breed effective population sizes ranged from 26 (Ibizan hound) to 1090 (Golden retriever), comparable with other species of domesticated animals. The relatively low levels of inbreeding suggest that pedigree dog disorders are unlikely to arise frequently from the use of popular sires or close breeding in Australian registered dog breeds. It is possible that deleterious allele fixation might be driven by founder effects, genetic drift or adverse selection practices, which were not assessed in this analysis. European popular sire definitions should be revisited for rare breeds. Copyright © 2011. Published by Elsevier Ltd.

  12. Genetic characterization of Colombian Bahman cattle using microsatellites markers.

    PubMed

    Gómez, Y M; Fernandez, M; Rivera, D; Gómez, G; Bernal, J E

    2013-07-01

    Genetic structure and diversity of 3789 animals of the Brahman breed from 23 Colombian regions were assessed. Considering the Brahman Zebu cattle as a single population, the multilocus test based on the HW equilibrium, shows significant differences (P < 0.001). Genetic characterization made on the cattle population allowed to examine the genetic variability, calculating a H(o) = 0.6621. Brahman population in Colombia was a small subdivision within populations (F(it) = 0.045), a geographic subdivision almost non-existent or low differentiation (F(st) = 0.003) and the F(is) calculated (0.042) indicates no detriment to the variability in the population, despite the narrow mating takes place or there is a force that causes the variability is sustained without inbreeding actually affect the cattle population. The outcomes of multivariate analyses, Bayesian inferences and interindividual genetic distances suggested that there is no genetic sub-structure in the population, because of the high rate of animal migration among regions.

  13. Multigenerational effects of inbreeding in Cucurbita pepo ssp. texana (Cucurbitaceae).

    PubMed

    Hayes, C Nelson; Winsor, James A; Stephenson, Andrew G

    2005-02-01

    The shape of the fitness function relating the decline in fitness with coefficient of inbreeding (f) can provide evidence concerning the genetic basis of inbreeding depression, but few studies have examined inbreeding depression across a range of f using noncultivated species. Futhermore, studies have rarely examined the effects of inbreeding depression in the maternal parent on offspring fitness. To estimate the shape of the fitness function, we examined the relationship between f and fitness across a range off from 0.000 to 0.875 for components of both male and female fitness in Cucurbita pepo ssp. texana. Each measure of female fitness declined with f, including pistillate flower number, fruit number, seed number per fruit, seed mass per fruit, and percentage seed germination. Several aspects of male fitness also declined with f, including staminate flower number, pollen number per flower, and the number of days of flowering, although cumulative inbreeding depression was less severe for male (0.34) than for female function (0.39). Fitness tended to decline linearly with f between f = 0.00 and f = 0.75 for most traits and across cumulative lifetime fitness (mean = 0.66), suggesting that individual genes causing inbreeding depression are additive and the result of many alleles of small effect. However, most traits also showed a small reduction in inbreeding depression between f = 0.75 and f = 0.875, and evidence of purging or diminishing epistasis was found for in vitro pollen-tube growth rate. To examine inbreeding depression as a maternal effect, we performed outcross pollinations on f = 0.0 and f = 0.5 mothers and found that depression due to maternal inbreeding was 0.07, compared to 0.10 for offspring produced through one generation of selfing. In at least some families, maternal inbreeding reduced fruit number, seed number and mass, staminate flower number, pollen diameter, and pollen-tube growth rate. Collectively these results suggest that, while the fitness function appears to be largely linear for most traits, maternal effects may compound the effects of inbreeding depression in multigenerational studies, though this may be partially offset by purging or diminishing epistasis.

  14. Estimation of in situ mating systems in wild sorghum (Sorghum bicolor (L.) Moench) in Ethiopia using SSR-based progeny array data: implications for the spread of crop genes into the wild.

    PubMed

    Adugna, Asfaw; Sweeney, Patty M; Bekele, Endashaw

    2013-04-01

    Because transgenic sorghum (Sorghum bicolor L.) is being developed for Africa, we investigated the potential for transgenes to spread to conspecific wild/weedy sorghum populations in Ethiopia, which is considered the centre of origin of cultivated sorghum. In the current study, the extent of outcrossing, and uniparental and biparental inbreeding were investigated in seven wild/weedy sorghum populations collected at elevations ranging from 631 to 1709 m. Based on allele frequency data of 1120 progenies and 140 maternal plants from five polymorphic microsatellite markers, outcrossing rates were estimated using standard procedures. The average multilocus outcrossing rate was 0.51, with a range of 0.31-0.65 among populations, and the family outcrossing rate was in the extreme range of 0 to 100%. The highest outcrossing (t(m) = 0.65) was recorded in a weedy population that was intermixed with an improved crop variety in Abuare (Wello region). It was also observed that the inbreeding coefficient of the progenies (F(p)) tend to be more than the inbreeding coefficient of both their maternal parents (F(m)) and the level of inbreeding expected at equilibrium (F(eq)), which is a characteristic of predominantly outbreeding species. Biparental inbreeding was evident in all populations and averaged 0.24 (range = 0.10-0.33). The high outcrossing rates of wild/weedy sorghum populations in Ethiopia indicate a high potential for crop genes (including transgenes) to spread within the wild pool. Therefore, effective risk management strategies may be needed if the introgression of transgenes or other crop genes from improved cultivars into wild or weedy populations is deemed to be undesirable.

  15. Genetic diversity and population genetic analysis of bovine MHC class II DRB3.2 locus in three Bos indicus cattle breeds of Southern India.

    PubMed

    Das, D N; Sri Hari, V G; Hatkar, D N; Rengarajan, K; Saravanan, R; Suryanarayana, V V S; Murthy, L K

    2012-12-01

    The present study was performed to evaluate the genetic polymorphism of BoLA-DRB3.2 locus in Malnad Gidda, Hallikar and Ongole South Indian Bos indicus cattle breeds, employing the PCR-RFLP technique. In Malnad Gidda population, 37 BoLA-DRB3.2 alleles were detected, including one novel allele DRB3*2503 (GenBank: HM031389) that was observed in the frequency of 1.87%. In Hallikar and Ongole populations, 29 and 21 BoLA-DRB3.2 alleles were identified, respectively. The frequencies of the most common BoLA-DRB3.2 alleles (with allele frequency > 5%), in Malnad Gidda population, were DRB3.2*15 (10.30%), DRB3*5702 (9.35%), DRB3.2*16 (8.41%), DRB3.2*23 (7.01%) and DRB3.2*09 (5.61%). In Hallikar population, the most common alleles were DRB3.2*11 (13.00%), DRB3.2*44 (11.60%), DRB3.2*31 (10.30%), DRB3.2*28 (5.48%) and DRB3.2*51 (5.48%). The most common alleles in Ongole population were DRB3.2*15 (22.50%), DRB3.2*06 (20.00%), DRB3.2*13 (13.30%), DRB3.2*12 (9.17%) and DRB3.2*23 (7.50%). A high degree of heterozygosity observed in Malnad Gidda (H(O) = 0.934, H(E) = 0.955), Hallikar (H(O) = 0.931, H(E) = 0.943) and Ongole (H(O) = 0.800, H(E) = 0.878) populations, along with F(IS) values close to F(IS) zero (Malnad Gidda: F(IS) = 0.0221, Hallikar: F(IS) = 0.0127 and Ongole: F(IS) = 0.0903), yielded nonsignificant P-values with respect to Hardy-Weinberg equilibrium probabilities revealing, no perceptible inbreeding, greater genetic diversity and characteristic population structure being preserved in the three studied cattle populations. The phylogenetic tree constructed based on the frequencies of BoLA-DRB3.2 alleles observed in 10 Bos indicus and Bos taurus cattle breeds revealed distinct clustering of specific Bos indicus cattle breeds, along with unique genetic differentiation observed among them. The results of this study demonstrated that the BoLA-DRB3.2 is a highly polymorphic locus, with significant breed-specific genetic diversities being present amongst the three studied cattle breeds. The population genetics and phylogenetic analysis have revealed pivotal information about the population structure and importance of the presently studied three Bos indicus cattle breeds as unique animal genetic resources, which have to be conserved for maintaining native cattle genetic diversity. © 2012 Blackwell Publishing Ltd.

  16. Prediction system of hydroponic plant growth and development using algorithm Fuzzy Mamdani method

    NASA Astrophysics Data System (ADS)

    Sudana, I. Made; Purnawirawan, Okta; Arief, Ulfa Mediaty

    2017-03-01

    Hydroponics is a method of farming without soil. One of the Hydroponic plants is Watercress (Nasturtium Officinale). The development and growth process of hydroponic Watercress was influenced by levels of nutrients, acidity and temperature. The independent variables can be used as input variable system to predict the value level of plants growth and development. The prediction system is using Fuzzy Algorithm Mamdani method. This system was built to implement the function of Fuzzy Inference System (Fuzzy Inference System/FIS) as a part of the Fuzzy Logic Toolbox (FLT) by using MATLAB R2007b. FIS is a computing system that works on the principle of fuzzy reasoning which is similar to humans' reasoning. Basically FIS consists of four units which are fuzzification unit, fuzzy logic reasoning unit, base knowledge unit and defuzzification unit. In addition to know the effect of independent variables on the plants growth and development that can be visualized with the function diagram of FIS output surface that is shaped three-dimensional, and statistical tests based on the data from the prediction system using multiple linear regression method, which includes multiple linear regression analysis, T test, F test, the coefficient of determination and donations predictor that are calculated using SPSS (Statistical Product and Service Solutions) software applications.

  17. Performance of Seven Tree Breeding Strategies Under Conditions of Inbreeding Depression.

    PubMed

    Wu, Harry X; Hallingbäck, Henrik R; Sánchez, Leopoldo

    2016-01-06

    In the domestication and breeding of tree species that suffer from inbreeding depression (ID), the long-term performance of different breeding strategies is poorly known. Therefore, seven tree breeding strategies including single population, subline, selfing, and nucleus breeding were simulated using a multi-locus model with additive, partial, and complete dominance allele effects, and with intermediate, U-shaped, and major allele distributions. The strategies were compared for genetic gain, inbreeding accumulation, capacity to show ID, the frequencies and fixations of unfavorable alleles, and genetic variances in breeding and production populations. Measured by genetic gain of production population, the nucleus breeding and the single breeding population with mass selection strategies were equal or superior to subline and single breeding population with within-family selection strategies in all simulated scenarios, in spite of their higher inbreeding coefficients. Inbreeding and cross-breeding effectively decreased ID and could in some scenarios produce genetic gains during the first few generations. However, in all scenarios, considerable fixation of unfavorable alleles rendered the purging performance of selfing and cross-breeding strategies ineffective, and resulted in substantial inferiority in comparison to the other strategies in the long-term. Copyright © 2016 Wu et al.

  18. Performance of Seven Tree Breeding Strategies Under Conditions of Inbreeding Depression

    PubMed Central

    Wu, Harry X.; Hallingbäck, Henrik R.; Sánchez, Leopoldo

    2016-01-01

    In the domestication and breeding of tree species that suffer from inbreeding depression (ID), the long-term performance of different breeding strategies is poorly known. Therefore, seven tree breeding strategies including single population, subline, selfing, and nucleus breeding were simulated using a multi-locus model with additive, partial, and complete dominance allele effects, and with intermediate, U-shaped, and major allele distributions. The strategies were compared for genetic gain, inbreeding accumulation, capacity to show ID, the frequencies and fixations of unfavorable alleles, and genetic variances in breeding and production populations. Measured by genetic gain of production population, the nucleus breeding and the single breeding population with mass selection strategies were equal or superior to subline and single breeding population with within-family selection strategies in all simulated scenarios, in spite of their higher inbreeding coefficients. Inbreeding and cross-breeding effectively decreased ID and could in some scenarios produce genetic gains during the first few generations. However, in all scenarios, considerable fixation of unfavorable alleles rendered the purging performance of selfing and cross-breeding strategies ineffective, and resulted in substantial inferiority in comparison to the other strategies in the long-term. PMID:26739644

  19. Correlation between incidences of self-inflicted burns and means of inbreeding coefficients, an ecologic study.

    PubMed

    Saadat, Mostafa; Zendeh-Boodi, Zahra

    2006-09-01

    The aim of the study is to obtain more insight into the possible association between consanguinity and the incidence of deliberate self-burning. Data were obtained by analysis of medical records of patients hospitalized in two referral burn centers: Chormy Burn Center (Bushehr Province, south of Iran) from March 21, 1998, through March 20, 2004, and Shahid Sadoqi Center of Burns and Injuries (Yazd Province, center of Iran) from March 21, 2000, through March 20, 2004. The incidence of suicidal burns was 6.51 and 2.32/100,000 person-years for Bushehr and Yazd Provinces, respectively. The observed sex ratio of patients in both centers indicated there was a female predominance in patients with self-inflicted burns. Using patients' home addresses, patients were sorted into 16 cities. The incidence of suicide by self-burning ranged from 0.80 (for Tabas, located in Yazd Province) to 12.60/100,000 person-years (for Dilam, located in Bushehr Province). The coefficient of inbreeding defines the probability that an individual received both alleles of a pair from an identical ancestral source. There was a significant correlation between incidences of suicidal burns and mean coefficient of inbreeding (r = 0.782, df = 14, p < 0.001). In addition to other factors, consanguineous marriage may be a risk factor that influences the incidence of suicidal burns in a population.

  20. Consanguinity and Its Sociodemographic Differentials in Bhimber District, Azad Jammu and Kashmir, Pakistan

    PubMed Central

    Jabeen, Nazish

    2014-01-01

    ABSTRACT Kashmiri population in the northeast of Pakistan has strong historical, cultural and linguistic affinities with the neighbouring populations of upper Punjab and Potohar region of Pakistan. However, the study of consanguineous unions, which are customarily practised in many populations of Pakistan, revealed marked differences between the Kashmiris and other populations of northern Pakistan with respect to the distribution of marriage types and inbreeding coefficient (F). The current descriptive epidemiological study carried out in Bhimber district of Mirpur division, Azad Jammu and Kashmir, Pakistan, demonstrated that consanguineous marriages were 62% of the total marriages (F=0.0348). First-cousin unions were the predominant type of marriages and constituted 50.13% of total marital unions. The estimates of inbreeding coefficient were higher in the literate subjects, and consanguinity was witnessed to be rising with increasing literacy level. Additionally, consanguinity was observed to be associated with ethnicity, family structure, language, and marriage arrangements. Based upon these data, a distinct sociobiological structure, with increased stratification and higher genomic homozygosity, is expected for this Kashmiri population. In this communication, we present detailed distribution of the types of marital unions and the incidences of consanguinity and inbreeding coefficient (F) across various sociodemographic strata of Bhimber/Mirpuri population. The results of this study would have implication not only for other endogamous populations of Pakistan but also for the sizeable Kashmiri community immigrated to Europe. PMID:25076667

  1. Efficient computation of kinship and identity coefficients on large pedigrees.

    PubMed

    Cheng, En; Elliott, Brendan; Ozsoyoglu, Z Meral

    2009-06-01

    With the rapidly expanding field of medical genetics and genetic counseling, genealogy information is becoming increasingly abundant. An important computation on pedigree data is the calculation of identity coefficients, which provide a complete description of the degree of relatedness of a pair of individuals. The areas of application of identity coefficients are numerous and diverse, from genetic counseling to disease tracking, and thus, the computation of identity coefficients merits special attention. However, the computation of identity coefficients is not done directly, but rather as the final step after computing a set of generalized kinship coefficients. In this paper, we first propose a novel Path-Counting Formula for calculating generalized kinship coefficients, which is motivated by Wright's path-counting method for computing inbreeding coefficient. We then present an efficient and scalable scheme for calculating generalized kinship coefficients on large pedigrees using NodeCodes, a special encoding scheme for expediting the evaluation of queries on pedigree graph structures. Furthermore, we propose an improved scheme using Family NodeCodes for the computation of generalized kinship coefficients, which is motivated by the significant improvement of using Family NodeCodes for inbreeding coefficient over the use of NodeCodes. We also perform experiments for evaluating the efficiency of our method, and compare it with the performance of the traditional recursive algorithm for three individuals. Experimental results demonstrate that the resulting scheme is more scalable and efficient than the traditional recursive methods for computing generalized kinship coefficients.

  2. Sustainable long-term conservation of rare cattle breeds using rotational AI sires

    PubMed Central

    Colleau, Jean-Jacques; Avon, Laurent

    2008-01-01

    The development of inbreeding in rotation breeding schemes, sequentially using artificial insemination (AI) sires over generations, was investigated for a full AI scheme. Asymptotic prediction formulae of inbreeding coefficients were established when the first rotation list of AI sires (possibly related) was in use. Simulated annealing provided the optimal rotation order of sires within this list, when the sires were related. These methods were also used for subsequent rotation lists, needed by the exhaustion of semen stores for the first bulls. Simulation was carried out starting with groups of independent sires, with different sizes. To generate a yearly inbreeding rate substantially lower than 0.05% (considered to be within reach by conventional conservation schemes using frequent replacements), the results obtained showed that the number of sires should be at least 10–15 and that the same sires should be used during at least 50 years. The ultimate objective was to examine the relevance of implementing rotation in breeding schemes on the actual rare French cattle breeds under conservation. The best candidate for such a test was the Villard-de-Lans breed (27 bulls and 73 000 doses for only 340 females) and it turned out to be the best performer with an inbreeding coefficient of only 7.4% after 500 years and five different sire lists. Due to the strong requirements on semen stores and on the stability of population size, actual implementation of this kind of conservation scheme was recommended only in special ('niche') cattle populations. PMID:18558074

  3. Genetic Analysis of Termite Colonies in Wisconsin.

    PubMed

    Arango, R A; Marschalek, D A; Green, F; Raffa, K F; Berres, M E

    2015-06-01

    The objective of this study was to document current areas of subterranean termite activity in Wisconsin and to evaluate genetic characteristics of these northern, peripheral colonies. Here, amplified fragment-length polymorphism was used to characterize levels of inbreeding, expected heterozygosity, and percent polymorphism within colonies as well as genetic structure among populations sampled. Genetic analysis revealed two species of termites occur in Wisconsin, Reticulitermes flavipes (Kollar) and Reticulitermes tibialis Banks, both found in the southern half of the state. Colonies of both species in Wisconsin are thought to represent the northern boundary of their current distributions. Measurements of within colony genetic variation showed the proportion of polymorphic loci to be between 52.9-63.9% and expected heterozygosity to range from 0.122-0.189. Consistent with geographical isolation, strong intercolony genetic differences were observed, with over 50% of FST values above 0.25 and the remaining showing moderate levels of genetic differentiation. Combined with low levels of inbreeding in most collection locations (FIS 0.042-0.123), we hypothesize termites were introduced numerous times in the state, likely by anthropogenic means. We discuss the potential effects of these genetic characteristics on successful colony establishment of termites along the northern boundary compared with termites in the core region of their distribution. Published by Oxford University Press on behalf of Entomological Society of America 2015. This work is written by US Government employees and is in the public domain in the US.

  4. Low incidence of inbreeding in a long-lived primate population isolated for 75 years.

    PubMed

    Widdig, Anja; Muniz, Laura; Minkner, Mirjam; Barth, Yvonne; Bley, Stefanie; Ruiz-Lambides, Angelina; Junge, Olaf; Mundry, Roger; Kulik, Lars

    2017-01-01

    When close relatives mate, offspring are expected to suffer fitness consequences due to inbreeding depression. Inbreeding has previously been quantified in two ways: using a sufficiently large panel of markers or deep and complete pedigrees over several generations. However, the application of both approaches is still limited by the challenge of compiling such data for species with long generation times, such as primates. Here, we assess inbreeding in rhesus macaques living on Cayo Santiago (Puerto Rico), a population genetically isolated since 1938, but descendant of a large set of presumably unrelated founders. Using comprehensive genetic data, we calculated inbreeding coefficients ( F ) for 2669 individuals with complete three generation pedigrees and 609 individuals with complete four generation pedigrees. We found that 0.79 and 7.39% of individuals had an F  > 0 when using data from three and four generation pedigrees, respectively. No evidence of an increase in inbreeding over the study period (up to 23 years) was found. Furthermore, the observed mean relatedness of breeding pairs differed significantly from the distribution of parental relatedness expected as simulated based on previous reproductive data, suggesting that kin generally avoid breeding with each other. Finally, inbreeding was not a predictor of early mortality measured as survival until weaning and sexual maturation, respectively. Our results remain consistent with three estimators of inbreeding (standardized heterozygosity, internal relatedness, and homozygosity by loci) using up to 42 highly polymorphic microsatellites for the same set of individuals. Together, our results demonstrate that close inbreeding may not be prevalent even in populations isolated over long periods when mechanisms of inbreeding avoidance can operate. When close relatives mate, offspring may suffer from such inbreeding, e.g., via lower survival and/or fertility. Using (i) a large panel of genetic markers and (ii) complete three or four generation pedigrees, respectively, we show that incidences of inbreeding in a long-lived primate population are rare, even after genetic isolation for 75 years. Moreover, our simulations suggest that kin in our population generally avoid breeding with each other. Finally, the few inbred individuals detected in our large sample did not suffer from lower survival. Given that many animal species face dramatic habitat loss combined with critical population declines, our study provides important implications for conservation biology in general and for population management in particular.

  5. Prevalence of consanguineous marriages in Syria.

    PubMed

    Othman, Hasan; Saadat, Mostafa

    2009-09-01

    Consanguineous marriage is the union of individuals having at least one common ancestor. The present cross-sectional study was done in order to illustrate the prevalence and types of consanguineous marriages in the Syrian Arab Republic. Data on consanguineous marriages were collected using a simple questionnaire. The total number of couples in this study was 67,958 (urban areas: 36,574 couples; rural areas: 31,384 couples) from the following provinces: Damascus, Hamah, Tartous, Latakia, Al Raqa, Homs, Edlep and Aleppo. In each province urban and rural areas were surveyed. Consanguineous marriage was classified by the degree of relationship between couples: double first cousins (F=1/8), first cousins (F=1/16), second cousins (F=1/64) and beyond second cousins (F<1/64). The coefficient of inbreeding (F) was calculated for each couple and the mean coefficient of inbreeding (alpha) estimated for the population of each province, stratified by rural and urban areas. The results showed that the overall frequency of consanguinity was 30.3% in urban and 39.8% in rural areas. Total rate of consanguinity was found to be 35.4%. The equivalent mean inbreeding coefficient (alpha) was 0.0203 and 0.0265 in urban and rural areas, respectively. The mean proportion of consanguineous marriages ranged from 67.5% in Al Raqa province to 22.1% in Latakia province. The alpha-value ranged from 0.0358 to 0.0127 in these two provinces, respectively. The western and north-western provinces (including Tartous, Lattakia and Edlep) recorded lower levels of inbreeding than the central, northern and southern provinces. The overall alpha-value was estimated to be about 0.0236 for the studied populations. First cousin marriages (with 20.9%) were the most common type of consanguineous marriages, followed by double first cousin (with 7.8%) and second cousin marriages (with 3.3%), and beyond second cousin was the least common type.

  6. Optimization of selection for growth in Menz Sheep while minimizing inbreeding depression in fitness traits

    PubMed Central

    2013-01-01

    The genetic trends in fitness (inbreeding, fertility and survival) of a closed nucleus flock of Menz sheep under selection during ten years for increased body weight were investigated to evaluate the consequences of selection for body weight on fitness. A mate selection tool was used to optimize in retrospect the actual selection and matings conducted over the project period to assess if the observed genetic gains in body weight could have been achieved with a reduced level of inbreeding. In the actual selection, the genetic trends for yearling weight, fertility of ewes and survival of lambs were 0.81 kg, –0.00026% and 0.016% per generation. The average inbreeding coefficient remained zero for the first few generations and then tended to increase over generations. The genetic gains achieved with the optimized retrospective selection and matings were highly comparable with the observed values, the correlation between the average breeding values of lambs born from the actual and optimized matings over the years being 0.99. However, the level of inbreeding with the optimized mate selections remained zero until late in the years of selection. Our results suggest that an optimal selection strategy that considers both genetic merits and coancestry of mates should be adopted to sustain the Menz sheep breeding program. PMID:23783076

  7. Consanguineous marriages in the United Arab Emirates.

    PubMed

    al-Gazali, L I; Bener, A; Abdulrazzaq, Y M; Micallef, R; al-Khayat, A I; Gaber, T

    1997-10-01

    This study examines the frequency of consanguineous marriage and the coefficient of inbreeding in the United Arab Emirates (UAE). The study was conducted in Al Ain and Dubai cities between October 1994 and March 1995. A sample of 2033 married UAE females aged 15 years and over participated. The degree of consanguinity between each female and her spouse, and the degree of consanguinity between their parents were recorded. The rate of consanguinity in the present generation was high (50.5%) with a coefficient of inbreeding of 0.0222. The commonest type of consanguineous marriage was between first cousins (26.2%). Double first cousin marriages were common (3.5%) compared to other populations. The consanguinity rate in the UAE has increased from 39% to 50.5% in one generation. The level of consanguinity was higher in Al Ain (54.2%) than in Dubai (40%).

  8. Population genetics of autopolyploids under a mixed mating model and the estimation of selfing rate.

    PubMed

    Hardy, Olivier J

    2016-01-01

    Nowadays, the population genetics analysis of autopolyploid species faces many difficulties due to (i) limited development of population genetics tools under polysomic inheritance, (ii) difficulties to assess allelic dosage when genotyping individuals and (iii) a form of inbreeding resulting from the mechanism of 'double reduction'. Consequently, few data analysis computer programs are applicable to autopolyploids. To contribute bridging this gap, this article first derives theoretical expectations for the inbreeding and identity disequilibrium coefficients under polysomic inheritance in a mixed mating model. Moment estimators of these coefficients are proposed when exact genotypes or just markers phenotypes (i.e. allelic dosage unknown) are available. This led to the development of estimators of the selfing rate based on adult genotypes or phenotypes and applicable to any even-ploidy level. Their statistical performances and robustness were assessed by numerical simulations. Contrary to inbreeding-based estimators, the identity disequilibrium-based estimator using phenotypes is robust (absolute bias generally < 0.05), even in the presence of double reduction, null alleles or biparental inbreeding due to isolation by distance. A fairly good precision of the selfing rate estimates (root mean squared error < 0.1) is already achievable using a sample of 30-50 individuals phenotyped at 10 loci bearing 5-10 alleles each, conditions reachable using microsatellite markers. Diallelic markers (e.g. SNP) can also perform satisfactorily in diploids and tetraploids but more polymorphic markers are necessary for higher ploidy levels. The method is implemented in the software SPAGeDi and should contribute to reduce the lack of population genetics tools applicable to autopolyploids. © 2015 John Wiley & Sons Ltd.

  9. Estimation of genetic diversity in Gute sheep: pedigree and microsatellite analyses of an ancient Swedish breed.

    PubMed

    Rochus, Christina M; Johansson, Anna M

    2017-01-01

    Breeds with small population size are in danger of an increased inbreeding rate and loss of genetic diversity, which puts them at risk for extinction. In Sweden there are a number of local breeds, native breeds which have adapted to specific areas in Sweden, for which efforts are being made to keep them pure and healthy over time. One example of such a breed is the Swedish Gute sheep. The objective of this study was to estimate inbreeding and genetic diversity of Swedish Gute sheep. Three datasets were analysed: pedigree information of the whole population, pedigree information for 100 animals of the population, and microsatellite genotypes for 94 of the 100 animals. The average inbreeding coefficient for lambs born during a six year time period (2007-2012) did not increase during that time period. The inbreeding calculated from the entire pedigree (0.038) and for a sample of the population (0.018) was very low. Sheep were more heterozygous at the microsatellite markers than expected (average multilocus heterozygosity and Ritland inbreeding estimates 1.01845 and -0.03931) and five of seven microsatellite markers were not in Hardy Weinberg equilibrium due to heterozygosity excess. The total effective population size estimated from the pedigree information was 155.4 and the average harmonic mean effective population size estimated from microsatellites was 88.3. Pedigree and microsatellite genotype estimations of inbreeding were consistent with a breeding program with the purpose of reducing inbreeding. Our results showed that current breeding programs of the Swedish Gute sheep are consistent with efforts of keeping this breed viable and these breeding programs are an example for other small local breeds in conserving breeds for the future.

  10. A comparison of pedigree- and DNA-based measures for identifying inbreeding depression in the critically endangered Attwater's Prairie-chicken.

    PubMed

    Hammerly, Susan C; Morrow, Michael E; Johnson, Jeff A

    2013-11-01

    The primary goal of captive breeding programmes for endangered species is to prevent extinction, a component of which includes the preservation of genetic diversity and avoidance of inbreeding. This is typically accomplished by minimizing mean kinship in the population, thereby maintaining equal representation of the genetic founders used to initiate the captive population. If errors in the pedigree do exist, such an approach becomes less effective for minimizing inbreeding depression. In this study, both pedigree- and DNA-based methods were used to assess whether inbreeding depression existed in the captive population of the critically endangered Attwater's Prairie-chicken (Tympanuchus cupido attwateri), a subspecies of prairie grouse that has experienced a significant decline in abundance and concurrent reduction in neutral genetic diversity. When examining the captive population for signs of inbreeding, variation in pedigree-based inbreeding coefficients (f(pedigree)) was less than that obtained from DNA-based methods (f(DNA)). Mortality of chicks and adults in captivity were also positively correlated with parental relatedness (r(DNA)) and f(DNA), respectively, while no correlation was observed with pedigree-based measures when controlling for additional variables such as age, breeding facility, gender and captive/release status. Further, individual homozygosity by loci (HL) and parental rDNA values were positively correlated with adult mortality in captivity and the occurrence of a lethal congenital defect in chicks, respectively, suggesting that inbreeding may be a contributing factor increasing the frequency of this condition among Attwater's Prairie-chickens. This study highlights the importance of using DNA-based methods to better inform management decisions when pedigrees are incomplete or errors may exist due to uncertainty in pairings. © 2013 John Wiley & Sons Ltd.

  11. Validity and reliability of short forms of parental-caregiver perception and family impact scale in a Telugu speaking population of India.

    PubMed

    Kumar, Santhosh; Kroon, Jeroen; Lalloo, Ratilal; Johnson, Newell W

    2016-03-01

    Parental-Caregiver Perception Questionnaire (P-CPQ) and Family Impact Scale (FIS) are commonly used measures to evaluate the parent's perception of the impact of children's oral health on quality of life and family respectively. Recently, shorter forms of P-CPQ and FIS have been developed. No study has sought to validate these short forms in other languages and cultures. This study aimed to evaluate the validity and reliability of FIS, 8 and 16-item P-CPQ in a Telugu speaking population of India. For this cross-sectional study, a multi-stage random sampling technique was used to recruit 11-13 year-old schoolchildren of Medak district, Telangana, India and their parents (n = 1342). Parents were approached with questionnaires through their children who underwent clinical examinations for dental caries, fluorosis and malocclusion. The translated versions underwent pilot testing (n = 40), test-retest reliability was also assessed (n = 161). The overall summary scale and subscales of the short forms of P-CPQ and FIS failed to discriminate between the categories of dental caries severity. Also, malocclusion status was not related to the domain or overall scores of both the short forms of P-CPQ. There were significant differences in subscale and overall scores of 16 and 8-item P-CPQ and FIS between the fluorosis categories. Both 16 and 8-item P-CPQ summary scales were significantly related to parent's global rating of oral health (16-item, r = 0.30, p < 0.01; 8-item, r = 0.28, p < 0.01) and overall wellbeing (16-item, r = 0.22, p < 0.01; 8-item, r = 0.22, p < 0.01), thereby exhibiting good construct validity. However, the correlation of emotional and social wellbeing scales of short forms of P-CPQ and FIS with global ratings was of low strength. Cronbach's alphas for FIS, 16-items and 8-items P-CPQ scales were 0.78, 0.83 and 0.71 respectively, while the Intra-Class Correlation coefficients were 0.752, 0.812 and 0.816 respectively. Cronbach's alphas for most of the subscales of short forms of P-CPQ were less than 0.7. The overall scales of 16 and 8-items P-CPQ scales demonstrated good construct validity while the construct validity of FIS was questionable. Discriminant validity of all the three instruments was good only in relation to fluorosis. Overall scales of all three short forms exhibited acceptable internal consistency and reliability on repeated administrations.

  12. Colonizing genetic populations as units of regulated change

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Harding, J.

    1973-01-01

    The interrelationships among natural selection, inbreeding, and genetic drift are reviewed with emphasis on colonization. Genetic variation at four loci in Lupinus succulentus exists in samples taken from California. A mathematical model was developed, and estimators were derived for gene frequency, heterozygote frequency, rate of cross-fertilization, and a coefficient of inbreeding. These parameters were estimated for 29 populations. The results indicate that (1) variation is nearly always present for the S/s locus affecting seed pigmentation, but generally absent for the three loci affecting flower pigmentation; (2) variation is not reduced in populations from recently colonized sites; (3) self-fertilization ranges frommore » nearly 0 to nearly 100%, with mean near 0.50; and, (4) inbreeding coefficients vary from 0 to 0.80, with mean near 0.40. The results do not suggest that man's disturbance of the environment has had any deleterious effect on the genetic structure of Lupinus succulentus populations. On the contrary, this species has been an opportunistic colonizer of these new habitats. However, Lupinus succulentus was chosen for study because it has been a successsful colonizer. These conclusions, if general at all, therefore, apply to successful colonizing species and not to those that cannot adapt to environmental disturbances and are now threatened with extinction.« less

  13. Estimating inbreeding in large, semi-isolated populations: effects of varying generation lengths and of migration.

    PubMed

    Pattison, J E

    2007-01-01

    The purpose of the study reported here was to investigate two important assumptions used in a recently reported new method of estimating inbreeding in large, relatively isolated populations over historic times. The method, based on modeling the genealogical "paradox," produces values of Pearl's coefficients, Z, a measure of inbreeding or genealogical coalescence, as a function of time. In this study, the effects on inbreeding of two important assumptions made in earlier studies, namely those of using a constant generation length and of ignoring migration, have been investigated for the population of Britain. First, by relating the median age of women at childbirth to the development level of various societies, the variation of the generation lengths for different periods in historic Britain were estimated. Values of Z for two types of varying generation lengths were then calculated and compared with the case of constant generation length. Second, the population curve for Britain used in earlier studies was modified to obtain the subpopulation at any time during the past two millennia that was descended from the pre-Roman British Celts. Values of Z for the case with migration were then calculated and compared with the case for no migration. It is shown that these two assumptions may be taken into account if and when required. Both the effect of a varying generation length and the effect of migration on Z were found to be 20-40%, when no known value of inbreeding was used, and 2-5%, when a known value of inbreeding was used.

  14. Towards a complete North American Anabaptist Genealogy II: analysis of inbreeding.

    PubMed

    Agarwala, R; Schäffer, A A; Tomlin, J F

    2001-08-01

    We describe a large genealogy data base, which can be searched by computer, of 295,095 Amish and Mennonite individuals. The data base was constructed by merging our existing Anabaptist Genealogy Database 2.0 containing approximately 85,000 individuals with a genealogy file containing approximately 242,000 individuals, kindly provided by Mr. James Hostetler. The merging process corrected thousands of inconsistencies and eliminated hundreds of duplicate individuals. Geneticists have long been interested in Anabaptist populations because they are closed and have detailed written genealogies. The creation of an enlarged and unified data base affords the opportunity to examine inbreeding trends and correlates in these populations. We show the following results. The frequency of consanguineous marriages shows steady increase over time and reached approximately 85% for individuals born in 1940-1959. Among consanguineous marriages, the median kinship coefficient stayed stable in the 19th century, but rose from 0.0115 to 0.0151 in the 20th century. There are statistically significant associations (p < 0.0001) between inbreeding and family size and interbirth intervals in the 20th century. There is an association (p < 0.0005) between inbreeding and early death for individuals born in 1920-1959. However, this association reverses dramatically (p < 0.0005 in the opposite direction) for individuals born in 1960-1979. We tested for an association between inbreeding and being the mother of twins, but found none.

  15. Genetic diversity and population structure of South African smallholder farmer sheep breeds determined using the OvineSNP50 beadchip.

    PubMed

    Molotsi, Annelin H; Taylor, Jeremy F; Cloete, Schalk W P; Muchadeyi, Farai; Decker, Jared E; Whitacre, Lynsey K; Sandenbergh, Lise; Dzama, Kennedy

    2017-12-01

    A population structure study was performed in South African ovine populations using the OvineSNP50 beadchip. Blood samples were obtained from 295 sheep of which 172 had been identified as smallholder Dorpers, 4 smallholder White Dorpers, 46 purebred Dorpers, 26 purebred South African Mutton Merinos and 47 purebred Namaqua Afrikaners. Blood from the latter three breeds were obtained from a resource flock maintained on the Nortier research farm. Genetic diversity was estimated using allelic richness (A r ), observed heterozygosity (H o ), expected heterozygosity (H e ) and inbreeding coefficient (F). Population structure analysis was performed using fastSTRUCTURE to determine the breed composition of each genotyped individual. The Namaqua Afrikaner had the lowest H e of 0.280 ± 0.18 while the H e of smallholder Dorper, Dorper and South African Mutton Merino did not differ and were 0.364 ± 0.13, 0.332 ± 0.16 and 0.329 ± 0.17, respectively. The average inbreeding coefficient was highest for the pure breeds, Namaqua Afrikaner, Dorper and South African Mutton Merino compared to the average inbreeding coefficient for the smallholder Dorper population. The smallholder Dorper were introgressed with Namaqua Afrikaner, South African Mutton Merino and White Dorpers. Similarly, the smallholder Dorper population was more genetically diverse than the purebred Dorper, South African Mutton Merino and Namaqua Afrikaner from the research farm. The higher genetic diversity among the smallholder sheep may be advantageous for their fitness and can be used to facilitate selective breeding.

  16. Coping with potential bi-parental inbreeding: limited pollen and seed dispersal and large genets in the dioecious marine angiosperm Thalassia testudinum.

    PubMed

    Van Tussenbroek, Brigitta Ine; Valdivia-Carrillo, Tania; Rodríguez-Virgen, Irene Teresa; Sanabria-Alcaraz, Sylvia Nashieli Marisela; Jiménez-Durán, Karina; Van Dijk, Kor Jent; Marquez-Guzmán, Guadalupe Judith

    2016-08-01

    The high prevalence of dioecy in marine angiosperms or seagrasses (>50% of all species) is thought to enforce cross-fertilization. However, seagrasses are clonal plants, and they may still be subject to sibling-mating or bi-parental inbreeding if the genetic neighborhood is smaller than the size of the genets. We tested this by determining the genetic neighborhoods of the dioecious seagrass Thalassia testudinum at two sites (Back-Reef and Mid-Lagoon) in Puerto Morelos Reef Lagoon, Mexico, by measuring dispersal of pollen and seeds in situ, and by fine-scale spatial autocorrelation analysis with eight polymorphic microsatellite DNA markers. Prevalence of inbreeding was verified by estimating pairwise kinship coefficients; and by analysing the genotypes of seedlings grown from seeds in mesocosms. Average dispersal of pollen was 0.3-1.6 m (max. 4.8 m) and of seeds was 0.3-0.4 m (max. 1.8 m), resulting in a neighborhood area of 7.4 m 2 (range 3.4-11.4 m 2 ) at Back-Reef and 1.9 (range 1.87-1.92 m 2 ) at Mid-Lagoon. Neighborhood area (Na) derived from spatial autocorrelation was 0.1-20.5 m 2 at Back-Reef and 0.1-16.9 m 2 at Mid-Lagoon. Maximal extensions of the genets, in 19 × 30 m plots, were 19.2 m (median 7.5 m) and 10.8 m (median 4.8 m) at Back-Reef and Mid-Lagoon. There was no indication of deficit or excess of heterozygotes nor were coefficients of inbreeding ( F IS ) significant. The seedlings did not show statistically significant deficit of heterozygotes (except for 1 locus at Back-Reef). Contrary to our expectations, we did not find evidence of bi-parental inbreeding in this dioecious seagrass with large genets but small genetic neighborhoods. Proposed mechanisms to avoid bi-parental inbreeding are possible selection against homozygotes during fecundation or ovule development. Additionally, the genets grew highly dispersed (aggregation index Ac was 0.09 and 0.10 for Back-Reef and Mid-Lagoon, respectively); such highly dispersed guerrilla-like clonal growth form likely increases the probability of crossing between different potentially unrelated genets.

  17. Fertilization-independent seed development in Arabidopsis thaliana

    PubMed Central

    Chaudhury, Abdul M.; Ming, Luo; Miller, Celia; Craig, Stuart; Dennis, Elizabeth S.; Peacock, W. James

    1997-01-01

    We report mutants in Arabidopsis thaliana (fertilization-independent seed: fis) in which certain processes of seed development are uncoupled from the double fertilization event that occurs after pollination. These mutants were isolated as ethyl methanesulfonate-induced pseudo-revertants of the pistillata phenotype. Although the pistillata (pi) mutant has short siliques devoid of seed, the fis mutants in the pi background have long siliques containing developing seeds, even though the flowers remain free of pollen. The three fis mutations map to loci on three different chromosomes. In fis1 and fis2 seeds, the autonomous endosperm nuclei are diploid and the endosperm develops to the point of cellularization; the partially developed seeds then atrophy. In these two mutants, proembryos are formed in a low proportion of seeds and do not develop beyond the globular stage. When FIS/fis plants are pollinated by pollen from FIS/FIS plants, ≈50% of the resulting seeds contain fully developed embryos; these seeds germinate and form viable seedlings (FIS/FIS). The other 50% of seeds shrivel and do not germinate; they contain embryos arrested at the torpedo stage (FIS/fis). In normal sexual reproduction, the products of the FIS genes are likely to play important regulatory roles in the development of seed after fertilization. PMID:9108133

  18. Fertilization-independent seed development in Arabidopsis thaliana.

    PubMed

    Chaudhury, A M; Ming, L; Miller, C; Craig, S; Dennis, E S; Peacock, W J

    1997-04-15

    We report mutants in Arabidopsis thaliana (fertilization-independent seed:fis) in which certain processes of seed development are uncoupled from the double fertilization event that occurs after pollination. These mutants were isolated as ethyl methanesulfonate-induced pseudo-revertants of the pistillata phenotype. Although the pistillata (pi) mutant has short siliques devoid of seed, the fis mutants in the pi background have long siliques containing developing seeds, even though the flowers remain free of pollen. The three fis mutations map to loci on three different chromosomes. In fis1 and fis2 seeds, the autonomous endosperm nuclei are diploid and the endosperm develops to the point of cellularization; the partially developed seeds then atrophy. In these two mutants, proembryos are formed in a low proportion of seeds and do not develop beyond the globular stage. When FIS/fis plants are pollinated by pollen from FIS/FIS plants, approximately 50% of the resulting seeds contain fully developed embryos; these seeds germinate and form viable seedlings (FIS/FIS). The other 50% of seeds shrivel and do not germinate; they contain embryos arrested at the torpedo stage (FIS/fis). In normal sexual reproduction, the products of the FIS genes are likely to play important regulatory roles in the development of seed after fertilization.

  19. On the genetic parameter determining the efficiency of purging: an estimate for Drosophila egg-to-pupae viability.

    PubMed

    Bersabé, D; García-Dorado, A

    2013-02-01

    The consequences of inbreeding on fitness can be crucial in evolutionary and conservation grounds and depend upon the efficiency of purging against deleterious recessive alleles. Recently, analytical expressions have been derived to predict the evolution of mean fitness, taking into account both inbreeding and purging, which depend on an 'effective purging coefficient (d(e) )'. Here, we explore the validity of that predictive approach and assay the strength of purging by estimating d(e) for egg-to-pupae viability (EPV) after a drastic reduction in population size in a recently captured base population of Drosophila melanogaster. For this purpose, we first obtained estimates of the inbreeding depression rate (δ) for EPV in the base population, and we found that about 40% was due to segregating recessive lethals. Then, two sets of lines were founded from this base population and were maintained with different effective size throughout the rest of the experiment (N = 6; N = 12), their mean EPV being assayed at different generations. Due to purging, the reductions in mean EPV experienced by these lines were considerably smaller than the corresponding neutral predictions. For the 60% of δ attributable to nonlethal deleterious alleles, our results suggest an effective purging coefficient d(e) > 0.02. Similarly, we obtain that d(e) > 0.09 is required to roughly account for purging against the pooled inbreeding depression from lethal and nonlethal deleterious alleles. This implies that purging should be efficient for population sizes of the order of a few tens and larger, but might be inefficient against nonlethal deleterious alleles in smaller populations. © 2012 The Authors. Journal of Evolutionary Biology © 2012 European Society For Evolutionary Biology.

  20. Isolated populations of a rare alpine plant show high genetic diversity and considerable population differentiation.

    PubMed

    Aegisdóttir, Hafdís Hanna; Kuss, Patrick; Stöcklin, Jürg

    2009-12-01

    Gene flow and genetic variability within and among alpine plant populations can be greatly influenced by the steep environmental gradients and heterogeneous topography of alpine landscapes. In this study, the effects are examined of natural isolation of alpine habitats on genetic diversity and geographic structure in populations of C. thyrsoides, a rare and isolated European Alpine monocarpic perennial with limited seed dispersal capacity. Molecular diversity was analysed for 736 individuals from 32 populations in the Swiss Alps and adjacent Jura mountains using five polymorphic microsatellite loci. Pollen flow was estimated using pollen grain-sized fluorescent powder. In addition, individual-based Bayesian approaches were applied to examine population structure. High within-population genetic diversity (H(E) = 0.76) and a relatively low inbreeding coefficient (F(IS) = 0.022) were found. Genetic differentiation among populations measured with a standardized measure was considerable (G'(ST) = 0.53). A significant isolation-by-distance relationship was found (r = 0.62, P < 0.001) and a significant geographic sub-structure, coinciding with proposed postglacial migration patterns. Altitudinal location and size of populations did not influence molecular variation. Direct measures of pollen flow revealed that insect-mediated pollen dispersal was restricted to short distances within a population. The natural isolation of suitable habitats for C. thyrsoides restricts gene flow among the populations as expected for a monocarpic species with very limited seed dispersal capacities. The observed high within-population genetic diversity in this rare monocarpic perennial is best explained by its outcrossing behaviour, long-lived individuals and overlapping generations. Despite the high within-population genetic diversity, the considerable genetic differentiation and the clear western-eastern differentiation in this species merits consideration in future conservation efforts.

  1. Evolution of the Selfing Syndrome in Arabis alpina (Brassicaceae).

    PubMed

    Tedder, Andrew; Carleial, Samuel; Gołębiewska, Martyna; Kappel, Christian; Shimizu, Kentaro K; Stift, Marc

    2015-01-01

    The transition from cross-fertilisation (outcrossing) to self-fertilisation (selfing) frequently coincides with changes towards a floral morphology that optimises self-pollination, the selfing syndrome. Population genetic studies have reported the existence of both outcrossing and selfing populations in Arabis alpina (Brassicaceae), which is an emerging model species for studying the molecular basis of perenniality and local adaptation. It is unknown whether its selfing populations have evolved a selfing syndrome. Using macro-photography, microscopy and automated cell counting, we compared floral syndromes (size, herkogamy, pollen and ovule numbers) between three outcrossing populations from the Apuan Alps and three selfing populations from the Western and Central Alps (Maritime Alps and Dolomites). In addition, we genotyped the plants for 12 microsatellite loci to confirm previous measures of diversity and inbreeding coefficients based on allozymes, and performed Bayesian clustering. Plants from the three selfing populations had markedly smaller flowers, less herkogamy and lower pollen production than plants from the three outcrossing populations, whereas pistil length and ovule number have remained constant. Compared to allozymes, microsatellite variation was higher, but revealed similar patterns of low diversity and high Fis in selfing populations. Bayesian clustering revealed two clusters. The first cluster contained the three outcrossing populations from the Apuan Alps, the second contained the three selfing populations from the Maritime Alps and Dolomites. We conclude that in comparison to three outcrossing populations, three populations with high selfing rates are characterised by a flower morphology that is closer to the selfing syndrome. The presence of outcrossing and selfing floral syndromes within a single species will facilitate unravelling the genetic basis of the selfing syndrome, and addressing which selective forces drive its evolution.

  2. Genome-wide inbreeding estimation within Lebanese communities using SNP arrays

    PubMed Central

    Jalkh, Nadine; Sahbatou, Mourad; Chouery, Eliane; Megarbane, André; Leutenegger, Anne-Louise; Serre, Jean-Louis

    2015-01-01

    Consanguineous marriages have been widely practiced in several global communities with varying rates depending on religion, culture, and geography. In consanguineous marriages, parents pass to their children autozygous segments known as homozygous by descent segments. In this study, single-nucleotide polymorphisms were analyzed in 165 unrelated Lebanese people from Greek Orthodox, Maronite, Shiite and Sunni communities. Runs of homozygosity, total inbreeding levels, remote consanguinity, and population admixture and structure were estimated. The inbreeding coefficient value was estimated to be 1.61% in offspring of unrelated parents over three generations and 8.33% in offspring of first cousins. From these values, remote consanguinity values, resulting from genetic drift or recurrent consanguineous unions, were estimated in offspring of unrelated and first-cousin parents to be 0.61 and 1.2%, respectively. This remote consanguinity value suggests that for any unrelated marriages in Lebanon, the mates could be related as third cousins or as second cousins once removed. Under the assumption that 25% of marriages occur between first cousins, the mean inbreeding value of 2.3% may explain the increased incidence of recessive disease in offspring. Our analysis reveals a common ancestral population in the four Lebanese communities we studied. PMID:25424710

  3. Genome-wide inbreeding estimation within Lebanese communities using SNP arrays.

    PubMed

    Jalkh, Nadine; Sahbatou, Mourad; Chouery, Eliane; Megarbane, André; Leutenegger, Anne-Louise; Serre, Jean-Louis

    2015-10-01

    Consanguineous marriages have been widely practiced in several global communities with varying rates depending on religion, culture, and geography. In consanguineous marriages, parents pass to their children autozygous segments known as homozygous by descent segments. In this study, single-nucleotide polymorphisms were analyzed in 165 unrelated Lebanese people from Greek Orthodox, Maronite, Shiite and Sunni communities. Runs of homozygosity, total inbreeding levels, remote consanguinity, and population admixture and structure were estimated. The inbreeding coefficient value was estimated to be 1.61% in offspring of unrelated parents over three generations and 8.33% in offspring of first cousins. From these values, remote consanguinity values, resulting from genetic drift or recurrent consanguineous unions, were estimated in offspring of unrelated and first-cousin parents to be 0.61 and 1.2%, respectively. This remote consanguinity value suggests that for any unrelated marriages in Lebanon, the mates could be related as third cousins or as second cousins once removed. Under the assumption that 25% of marriages occur between first cousins, the mean inbreeding value of 2.3% may explain the increased incidence of recessive disease in offspring. Our analysis reveals a common ancestral population in the four Lebanese communities we studied.

  4. Genetic Diversity of an Imperiled Neotropical Catfish and Recommendations for Its Restoration

    PubMed Central

    Fonseca, Fernando S.; Domingues, Rodrigo R.; Hallerman, Eric M.; Hilsdorf, Alexandre W. S.

    2017-01-01

    The long-whiskered catfish Steindachneridion parahybae (Family Pimelodidae) is endemic to the Paraíba do Sul River basin in southeastern Brazil. This species was heavily exploited by artisanal fisheries and faces challenges posed by dams, introduced species, and deterioration of critical habitat. The remaining populations are small and extirpated from some locales, and the species is listed as critically endangered in Brazil. Screening variation at a partial mitochondrial control region sequence (mtCR) and 20 microsatellite loci, we: (i) describe the patterns of genetic diversity along its current distributional range; (ii) test the null hypothesis of panmixia; (iii) investigate the main factors driving its current population structure, and (iv) propose management of broodstock for fostering recovery of wild populations through genetically cognizant restocking. Our microsatellite data for 70 individuals from five collections indicate moderate levels of heterozygosity (HO = 0.45) and low levels of inbreeding (FIS = 0.016). Individual-based cluster analyses showed clear genetic structure, with three clusters of individuals over the collection area with no mis-assigned individuals, suggesting no recent migration among the three clusters. Pairwise DEST values showed moderate and significant genetic differentiation among all populations so identified. The MUR population may have suffered a recent demographic reduction. mtCRs for 70 individuals exhibited 36 haplotypes resulting from 38 polymorphic sites. Overall, mitochondrial haplotype diversity was 0.930 (±0.023) and nucleotide diversity was 0.011 (±0.002). Significant population structure was observed, with ϕST = 0.226. Genetic markers could be used in a hatchery-based restoration program emphasizing breeding of pairs with low kinship values in order to promote retention of genetic diversity and avoid inbreeding. Individual average kinship relationships showed 87.3% advised matings, 11.0% marginal matings, and 1.7% advised against. While these results comprise a contribution toward planning better breeding management and monitoring, parallel actions to be undertaken include surveying healthy riverine habits for reintroduction and continued searching for wild individuals to introduce new variation into the captive broodstock to avoid adaptation to captivity and to minimize inbreeding. PMID:29312433

  5. Evaluation of inbreeding in laying hens by applying optimum genetic contribution and gene flow theory.

    PubMed

    König, S; Tsehay, F; Sitzenstock, F; von Borstel, U U; Schmutz, M; Preisinger, R; Simianer, H

    2010-04-01

    Due to consistent increases of inbreeding of on average 0.95% per generation in layer populations, selection tools should consider both genetic gain and genetic relationships in the long term. The optimum genetic contribution theory using official estimated breeding values for egg production was applied for 3 different lines of a layer breeding program to find the optimal allocations of hens and sires. Constraints in different scenarios encompassed restrictions related to additive genetic relationships, the increase of inbreeding, the number of selected sires and hens, and the number of selected offspring per mating. All these constraints enabled higher genetic gain up to 10.9% at the same level of additive genetic relationships or in lower relationships at the same gain when compared with conventional selection schemes ignoring relationships. Increases of inbreeding and genetic gain were associated with the number of selected sires. For the lowest level of the allowed average relationship at 10%, the optimal number of sires was 70 and the estimated breeding value for egg production of the selected group was 127.9. At the highest relationship constraint (16%), the optimal number of sires decreased to 15, and the average genetic value increased to 139.7. Contributions from selected sires and hens were used to develop specific mating plans to minimize inbreeding in the following generation by applying a simulated annealing algorithm. The additional reduction of average additive genetic relationships for matings was up to 44.9%. An innovative deterministic approach to estimate kinship coefficients between and within defined selection groups based on gene flow theory was applied to compare increases of inbreeding from random matings with layer populations undergoing selection. Large differences in rates of inbreeding were found, and they underline the necessity to establish selection tools controlling long-term relationships. Furthermore, it was suggested to use optimum genetic contribution theory for conservation schemes or, for example, the experimental line in our study.

  6. The existence of species rests on a metastable equilibrium between inbreeding and outbreeding. An essay on the close relationship between speciation, inbreeding and recessive mutations

    PubMed Central

    2011-01-01

    Background Speciation corresponds to the progressive establishment of reproductive barriers between groups of individuals derived from an ancestral stock. Since Darwin did not believe that reproductive barriers could be selected for, he proposed that most events of speciation would occur through a process of separation and divergence, and this point of view is still shared by most evolutionary biologists today. Results I do, however, contend that, if so much speciation occurs, the most likely explanation is that there must be conditions where reproductive barriers can be directly selected for. In other words, situations where it is advantageous for individuals to reproduce preferentially within a small group and reduce their breeding with the rest of the ancestral population. This leads me to propose a model whereby new species arise not by populations splitting into separate branches, but by small inbreeding groups "budding" from an ancestral stock. This would be driven by several advantages of inbreeding, and mainly by advantageous recessive phenotypes, which could only be retained in the context of inbreeding. Reproductive barriers would thus not arise as secondary consequences of divergent evolution in populations isolated from one another, but under the direct selective pressure of ancestral stocks. Many documented cases of speciation in natural populations appear to fit the model proposed, with more speciation occurring in populations with high inbreeding coefficients, and many recessive characters identified as central to the phenomenon of speciation, with these recessive mutations expected to be surrounded by patterns of limited genomic diversity. Conclusions Whilst adaptive evolution would correspond to gains of function that would, most of the time, be dominant, this type of speciation by budding would thus be driven by mutations resulting in the advantageous loss of certain functions since recessive mutations very often correspond to the inactivation of a gene. A very important further advantage of inbreeding is that it reduces the accumulation of recessive mutations in genomes. A consequence of the model proposed is that the existence of species would correspond to a metastable equilibrium between inbreeding and outbreeding, with excessive inbreeding promoting speciation, and excessive outbreeding resulting in irreversible accumulation of recessive mutations that could ultimately only lead to extinction. Reviewer names Eugene V. Koonin, Patrick Nosil (nominated by Dr Jerzy Jurka), Pierre Pontarotti PMID:22152499

  7. Re-mating across years and intralineage polygyny are associated with greater than expected levels of inbreeding in wild red deer

    PubMed Central

    Stopher, K V; Nussey, D H; Clutton-Brock, T H; Guinness, F; Morris, A; Pemberton, J M

    2012-01-01

    The interaction between philopatry and nonrandom mating has important consequences for the genetic structure of populations, influencing co-ancestry within social groups but also inbreeding. Here, using genetic paternity data, we describe mating patterns in a wild population of red deer (Cervus elaphus) which are associated with marked consequences for co-ancestry and inbreeding in the population. Around a fifth of females mate with a male with whom they have mated previously, and further, females frequently mate with a male with whom a female relative has also mated (intralineage polygyny). Both of these phenomena occur more than expected under random mating. Using simulations, we demonstrate that temporal and spatial factors, as well as skew in male breeding success, are important in promoting both re-mating behaviours and intralineage polygyny. However, the information modelled was not sufficient to explain the extent to which these behaviours occurred. We show that re-mating and intralineage polygyny are associated with increased pairwise relatedness in the population and a rise in average inbreeding coefficients. In particular, the latter resulted from a correlation between male relatedness and rutting location, with related males being more likely to rut in proximity to one another. These patterns, alongside their consequences for the genetic structure of the population, have rarely been documented in wild polygynous mammals, yet they have important implications for our understanding of genetic structure, inbreeding avoidance and dispersal in such systems. PMID:23039875

  8. Bioflavonoid Fisetin Loaded α-Tocopherol-Poly(lactic acid)-Based Polymeric Micelles for Enhanced Anticancer Efficacy in Breast Cancers.

    PubMed

    Wang, Lei; Zhang, De-Zhong; Wang, Yu-Xia

    2017-02-01

    In this study, tocopherol based polymeric micelles were successfully prepared to enhance the anticancer effect of fisetin (FIS) in breast cancer cells. The drug-loaded carrier was characterized in terms of physicochemical and in vivo parameters. Compared to FIS, FIS-TPN showed higher cellular uptake in MCF-7 breast cancer cells as revealed by CLSM and flow cytometry. The cytotoxicity assay results clearly showed that the free FIS and FIS-TPN exhibited a typical dose-dependent toxic effect in MCF-7 breast cancer cells. Especially, enhanced cytotoxic effect of FIS was observed when loaded in a nanocarrier. Free FIS induced a ~11% apoptosis whereas FIS-TPN induced a significantly greater apoptosis of ~20% by the end of 24 h. At 48 h, similar trend continued and free FIS showed ~30% of apoptosis whereas ~42% cell apoptosis was observed in FIS-TPN treated group. Notably, migration of cancer cell was significantly inhibited when treated with FIS-TPN formulations. The FIS-TPN significantly reduced to tumor burden and H&E staining showed the lowest tumor volume and higher cell apoptosis. All the findings suggest that the fisetin-loaded TPGS-PLA polymeric micelles serve as a potential candidate and promising alternative for the effective treatment of breast cancers.

  9. [The investigation of the influence of cryopreservation and inbreeding on the variability of morphological characteristics of the evening-primrose biennial (Oenothera biennis L.)].

    PubMed

    Chetviverikova, E P; Iashina, S G; Shabaeva, E V; Egorova, E F; Iashina, A V

    2005-01-01

    The effect of deep freezing of seeds at -196 degrees C (-320.8 degrees Fahrenheit) and inbreeding on the morphological characteristics of the evening-primrose biennal (Oenothera biennis L.), such as the size of plant parts and the amount of fruits, cauline nodes, and generative and vegetative shoots was investigated. The variation coefficients for these characteristics after treatment with low temperatures and inbreeding were calculated. It was shown that the characteristics of plant size show a low and a middle level of variability in the control group. The variation curves for these characteristics are similar to normal distribution curves. After stresses they slightly change or remain invariant. Large adventive shoots show a high level of variability. The distribution of the results in this case significantly differs from the normal. The branching of plants changes after both stress factors: the amount of all kinds of shoots decreases by half or even more.

  10. Robust Translation of the Nucleoid Protein Fis Requires a Remote Upstream AU Element and Is Enhanced by RNA Secondary Structure

    PubMed Central

    Nafissi, Maryam; Chau, Jeannette; Xu, Jimin

    2012-01-01

    Synthesis of the Fis nucleoid protein rapidly increases in response to nutrient upshifts, and Fis is one of the most abundant DNA binding proteins in Escherichia coli under nutrient-rich growth conditions. Previous work has shown that control of Fis synthesis occurs at transcription initiation of the dusB-fis operon. We show here that while translation of the dihydrouridine synthase gene dusB is low, unusual mechanisms operate to enable robust translation of fis. At least two RNA sequence elements located within the dusB coding region are responsible for high fis translation. The most important is an AU element centered 35 nucleotides (nt) upstream of the fis AUG, which may function as a binding site for ribosomal protein S1. In addition, a 44-nt segment located upstream of the AU element and predicted to form a stem-loop secondary structure plays a prominent role in enhancing fis translation. On the other hand, mutations close to the AUG, including over a potential Shine-Dalgarno sequence, have little effect on Fis protein levels. The AU element and stem-loop regions are phylogenetically conserved within dusB-fis operons of representative enteric bacteria. PMID:22389479

  11. Half of 23 Belgian dog breeds has a compromised genetic diversity, as revealed by genealogical and molecular data analysis.

    PubMed

    Wijnrocx, K; François, L; Stinckens, A; Janssens, S; Buys, N

    2016-10-01

    The genetic diversity in 23 dog breeds raised in Belgium was investigated using both genealogical analysis and microsatellite markers. Some of these breeds are native breeds, with only small populations maintained. Pedigree and molecular data, obtained from the Belgian kennel club, were used to calculate the inbreeding coefficients, realised effective population size as well as probabilities of gene origin and average observed heterozygosity. Inbreeding coefficients ranged from 0.8 to 44.7% and realised effective population size varied between 3.2 and 829.1, according to the used method and breed. Mean observed heterozygosity ranged from 0.47 to 0.73. Both pedigree and molecular methods reveal low genetic diversity and presence of bottlenecks, especially in native Belgian breeds with small population sizes. Furthermore, principal component analysis on the set of investigated diversity parameters revealed no groups of breeds that could be identified in which similar breeding strategies could be applied to maintain genetic diversity. © 2016 Blackwell Verlag GmbH.

  12. Extensive genome-wide autozygosity in the population isolates of Daghestan.

    PubMed

    Karafet, Tatiana M; Bulayeva, Kazima B; Bulayev, Oleg A; Gurgenova, Farida; Omarova, Jamilia; Yepiskoposyan, Levon; Savina, Olga V; Veeramah, Krishna R; Hammer, Michael F

    2015-10-01

    Isolated populations are valuable resources for mapping disease genes, as inbreeding increases genome-wide homozygosity and enhances the ability to map disease alleles on a genetically uniform background within a relatively homogenous environment. The populations of Daghestan are thought to have resided in the Caucasus Mountains for hundreds of generations and are characterized by a high prevalence of certain complex diseases. To explore the extent to which their unique population history led to increased levels of inbreeding, we genotyped >550 000 autosomal single-nucleotide polymorphisms (SNPs) in a set of 14 population isolates speaking Nakh-Daghestanian (ND) languages. The ND-speaking populations showed greatly elevated coefficients of inbreeding, very high numbers and long lengths of Runs of Homozygosity, and elevated linkage disequilibrium compared with surrounding groups from the Caucasus, the Near East, Europe, Central and South Asia. These results are consistent with the hypothesis that most ND-speaking groups descend from a common ancestral population that fragmented into a series of genetic isolates in the Daghestanian highlands. They have subsequently maintained a long-term small effective population size as a result of constant inbreeding and very low levels of gene flow. Given these findings, Daghestanian population isolates are likely to be useful for mapping genes associated with complex diseases.

  13. Time within reproductive season, but not age or inbreeding coefficient, influences seminal and sperm quality in the whooping crane (Grus americana)

    USGS Publications Warehouse

    Brown, M.E.; Converse, Sarah J.; Chandler, Jane N.; Crosier, A. L.; Lynch, W.; Wildt, D.E.; Keefer, C. L.; Songsasen, Nucharin

    2017-01-01

    All living whooping cranes (Grus americana) are descended from 16 or fewer birds that remained alive in the early 1940s, a bottleneck that puts the species at potential risk for inbreeding depression. Although AI is commonly used in the management of the captive population of this species, little is known about seminal traits or factors affecting sperm quality in the whooping crane. In the present study, semen samples were collected from 29 adult males (age 3–27 years) during the early (March), mid (April) and late (May) breeding season over 2 consecutive years. The effects of donor age, time within reproductive season and level of inbreeding on seminal characteristics were analysed using regression and information–theoretic model selection. Only time within reproductive season significantly affected seminal traits, with total numbers of spermatozoa and proportions of pleiomorphisms increasing across the season. We conclude that, even with a highly restricted number of founders, there is no discernible influence of inbreeding (at the levels described) on sperm output or quality. Furthermore, although there is variance in seminal quality, the whooping crane produces significant numbers of motile spermatozoa throughout the breeding season, similar to values reported for the greater sandhill crane (Grus canadensis tabida).

  14. Genome-Wide SNP Discovery and Analysis of Genetic Diversity in Farmed Sika Deer (Cervus nippon) in Northeast China Using Double-Digest Restriction Site-Associated DNA Sequencing

    PubMed Central

    Ba, Hengxing; Jia, Boyin; Wang, Guiwu; Yang, Yifeng; Kedem, Gilead; Li, Chunyi

    2017-01-01

    Sika deer are an economically valuable species owing to their use in traditional Chinese medicine, particularly their velvet antlers. Sika deer in northeast China are mostly farmed in enclosure. Therefore, genetic management of farmed sika deer would benefit from detailed knowledge of their genetic diversity. In this study, we generated over 1.45 billion high-quality paired-end reads (288 Gbp) across 42 unrelated individuals using double-digest restriction site-associated DNA sequencing (ddRAD-seq). A total of 96,188 (29.63%) putative biallelic SNP loci were identified with an average sequencing depth of 23×. Based on the analysis, we found that the majority of the loci had a deficit of heterozygotes (FIS >0) and low values of Hobs, which could be due to inbreeding and Wahlund effects. We also developed a collection of high-quality SNP probes that will likely be useful in a variety of applications in genotyping for cervid species in the future. PMID:28751500

  15. The mitochondrial outer membrane protein hFis1 regulates mitochondrial morphology and fission through self-interaction

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Serasinghe, Madhavika N.; Mitochondrial Research and Innovation Group, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642; Yoon, Yisang

    2008-11-15

    Mitochondrial fission in mammals is mediated by at least two proteins, DLP1/Drp1 and hFis1. DLP1 mediates the scission of mitochondrial membranes through GTP hydrolysis, and hFis1 is a putative DLP1 receptor anchored at the mitochondrial outer membrane by a C-terminal single transmembrane domain. The cytosolic domain of hFis1 contains six {alpha}-helices ({alpha}1-{alpha}6) out of which {alpha}2-{alpha}5 form two tetratricopeptide repeat (TPR) folds. In this study, by using chimeric constructs, we demonstrated that the cytosolic domain contains the necessary information for hFis1 function during mitochondrial fission. By using transient expression of different mutant forms of the hFis1 protein, we found thatmore » hFis1 self-interaction plays an important role in mitochondrial fission. Our results show that deletion of the {alpha}1 helix greatly increased the formation of dimeric and oligomeric forms of hFis1, indicating that {alpha}1 helix functions as a negative regulator of the hFis1 self-interaction. Further mutational approaches revealed that a tyrosine residue in the {alpha}5 helix and the linker between {alpha}3 and {alpha}4 helices participate in hFis1 oligomerization. Mutations causing oligomerization defect greatly reduced the ability to induce not only mitochondrial fragmentation by full-length hFis1 but also the formation of swollen ball-shaped mitochondria caused by {alpha}1-deleted hFis1. Our data suggest that oligomerization of hFis1 in the mitochondrial outer membrane plays a role in mitochondrial fission, potentially through participating in fission factor recruitment.« less

  16. Effects of genetic captive-breeding protocols on sperm quality and fertility in the white-footed mouse.

    PubMed

    Malo, Aurelio F; Martinez-Pastor, Felipe; Alaks, Glen; Dubach, Jean; Lacy, Robert C

    2010-10-01

    Mice (Peromyscus leucopus noveboracensis) from a captive-breeding program were used to test the effects of three genetic breeding protocols (minimizing mean kinship [MK], random breeding, and selection for docility [DOC]) and inbreeding levels on sperm traits and fertility. Earlier, in generation 8, one DOC replicate went extinct because of poor reproductive success. By generation 10, spermatozoa from DOC mice had more acrosome and midpiece abnormalities, which were shown to be strong determinants of fertility, as well as lower sperm production and resistance to osmotic stress. In addition, determinants of fertility, including male and female components, were assessed in a comprehensive manner. Results showed that the probability (P) of siring litters is determined by sperm number, sperm viability, and midpiece and acrosome abnormalities; that the P of siring one versus two litters is determined by tail abnormalities; and that the total number of offspring is influenced by female size and proportion of normal sperm, showing the relative importance of different sperm traits on fertility. On average, males with 20% normal sperm sired one pup per litter, and males with 70% normal sperm sired eight pups per litter. Interestingly, the proportion of normal sperm was affected by docility but not by relatively low inbreeding. However, inbreeding depression in sperm motility was detected. In the MK group, inbreeding depression not only affected sperm motility but also fertility: An increase in the coefficient of inbreeding (f) of 0.03 reduced sperm motility by 30% and translated into an offspring reduction of three pups in second litters. A genetic load of 48 fecundity equivalents was calculated.

  17. MHC-disassortative mate choice and inbreeding avoidance in a solitary primate.

    PubMed

    Huchard, Elise; Baniel, Alice; Schliehe-Diecks, Susanne; Kappeler, Peter M

    2013-08-01

    Sexual selection theory suggests that choice for partners carrying dissimilar genes at the major histocompatibility complex (MHC) may play a role in maintaining genetic variation in animal populations by limiting inbreeding or improving the immunity of future offspring. However, it is often difficult to establish whether the observed MHC dissimilarity among mates drives mate choice or represents a by-product of inbreeding avoidance based on MHC-independent cues. Here, we used 454-sequencing and a 10-year study of wild grey mouse lemurs (Microcebus murinus), small, solitary primates from western Madagascar, to compare the relative importance on the mate choice of two MHC class II genes, DRB and DQB, that are equally variable but display contrasting patterns of selection at the molecular level, with DRB under stronger diversifying selection. We further assessed the effect of the genetic relatedness and of the spatial distance among candidate mates on the detection of MHC-dependent mate choice. Our results reveal inbreeding avoidance, along with disassortative mate choice at DRB, but not at DQB. DRB-disassortative mate choice remains detectable after excluding all related dyads (characterized by a relatedness coefficient r > 0), but varies slightly with the spatial distance among candidate mates. These findings suggest that the observed deviations from random mate choice at MHC are driven by functionally important MHC genes (like DRB) rather than passively resulting from inbreeding avoidance and further emphasize the need for taking into account the spatial and genetic structure of the population in correlative tests of MHC-dependent mate choice. © 2013 John Wiley & Sons Ltd.

  18. Runs of homozygosity and population history in cattle

    PubMed Central

    2012-01-01

    Background Runs of homozygosity (ROH) are contiguous lengths of homozygous genotypes that are present in an individual due to parents transmitting identical haplotypes to their offspring. The extent and frequency of ROHs may inform on the ancestry of an individual and its population. Here we use high density (n = 777,962) bi-allelic SNPs in a range of cattle breed samples to correlate ROH with the pedigree-based inbreeding coefficients and to validate subsequent analyses using 54,001 SNP genotypes. This study provides a first testing of the inference drawn from ROH through comparison with estimates of inbreeding from calculations based on the detailed pedigree data available for several breeds. Results All animals genotyped on the HD panel displayed at least one ROH that was between 1–5 Mb in length with certain regions of the genome more likely to be involved in a ROH than others. Strong correlations (r = 0.75, p < 0.0001) existed between the pedigree-based inbreeding coefficient and a statistic based on sum of ROH of length > 0.5 KB and suggests that in the absence of an animal’s pedigree data, the extent of a genome under ROH may be used to infer aspects of recent population history even from relatively few samples. Conclusions Our findings suggest that ROH are frequent across all breeds but differing patterns of ROH length and burden illustrate variations in breed origins and recent management. PMID:22888858

  19. Population structure and inbreeding vary with successional stage in created Spartina alterniflora marshes

    USGS Publications Warehouse

    Travis, S.E.; Proffitt, C.E.; Ritland, K.

    2004-01-01

    Recruitment patterns in clonal plant populations are predicted to vary with seed dispersal capability and disturbance regime, such that species with small, widely dispersed seeds will become increasingly dominated by vegetative recruitment on disturbed areas following early colonization. Subsequent mortality due to competitive or stochastic effects is then predicted to cause a gradual decline in both clonal diversity and the ability of surviving clones to avoid geitonogamous mating and possible inbreeding depression. We tested predictions of these hypotheses by comparing four adjacent populations of the salt marsh plant, Spartina alterniflora, ranging in age from 2 to ???50 yr, by measuring fine-scale genetic structure at the level of both ramets and genets, and the rate of inbreeding. For this purpose, we sampled maternal tissue and seeds from discrete patches in the field and then genotyped both maternal and seedling tissue (germinated in a growth chamber) using standard molecular protocols. As predicted, we observed an increase in clonal diversity (measured as the complement of the Simpson Index corrected for finite sample sizes, 1-D) up to a maximum of 0.71 within 3-m2 patches at 16 yr, declining to 0.55 by ???50 yr. Local recruitment of seedlings was evident as genetic structure occurring at the level of patches, as measured by the fixation index, ??, which was inversely correlated with diversity (R2 > 0.90 at all patch scales). Outcrossing rates were positively associated with clonal diversity, with the highest level (89%) at an intermediate level of 1-D. The greatest selfing (32%) occurred in young (2-yr-old) patches with low diversity. Biparental inbreeding was minimal in all populations, never exceeding 1%. Inbreeding depression was inferred to be severe, as evidenced by near-zero adult inbreeding coefficients. These results suggest a possible fitness trade-off between clonal growth and the opportunity for outcrossing. We recommend that restoration plantings of clonal species with limited sexual recruitment capabilities should be designed to ensure adequate clonal diversity for the avoidance of inbreeding and the ability to adapt to subsequent environmental disturbances.

  20. Analysis of functional domains of rat mitochondrial Fis1, the mitochondrial fission-stimulating protein

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Jofuku, Akihiro; Ishihara, Naotada; Mihara, Katsuyoshi

    2005-07-29

    In yeast, mitochondrial-fission is regulated by the cytosolic dynamin-like GTPase (Dnm1p) in conjunction with a peripheral protein, Mdv1p, and a C-tail-anchored outer membrane protein, Fis1p. In mammals, a dynamin-related protein (Drp1) and Fis1 are involved in the mitochondrial-fission reaction as Dnm1 and Fis1 orthologues, respectively. The involvement of other component(s), such as the Mdv1 homologue, and the mechanisms regulating mitochondrial-fission remain unclear. Here, we identified rat Fis1 (rFis1) and analyzed its structure-function relationship. Blue-native-polyacrylamide gel electrophoresis revealed that rFis1 formed a {approx}200-kDa complex in the outer mitochondrial membrane. Its expression in HeLa cells promoted extensive mitochondrial fragmentation, and gene knock-downmore » by RNAi induced extension of the mitochondrial networks. Taking advantage of these properties, we analyzed functional domains of rFis1. These experiments revealed that the N-terminal and C-terminal segments are both essential for oligomeric rFis1 interaction, and the middle TPR-like domains regulate proper oligomer assembly. Any mutations that disturb the proper oligomeric assembly compromise mitochondrial division-stimulating activity of rFis1.« less

  1. Genetic diversity analysis of two commercial breeds of pigs using genomic and pedigree data.

    PubMed

    Zanella, Ricardo; Peixoto, Jane O; Cardoso, Fernando F; Cardoso, Leandro L; Biegelmeyer, Patrícia; Cantão, Maurício E; Otaviano, Antonio; Freitas, Marcelo S; Caetano, Alexandre R; Ledur, Mônica C

    2016-03-30

    Genetic improvement in livestock populations can be achieved without significantly affecting genetic diversity if mating systems and selection decisions take genetic relationships among individuals into consideration. The objective of this study was to examine the genetic diversity of two commercial breeds of pigs. Genotypes from 1168 Landrace (LA) and 1094 Large White (LW) animals from a commercial breeding program in Brazil were obtained using the Illumina PorcineSNP60 Beadchip. Inbreeding estimates based on pedigree (F x) and genomic information using runs of homozygosity (F ROH) and the single nucleotide polymorphisms (SNP) by SNP inbreeding coefficient (F SNP) were obtained. Linkage disequilibrium (LD), correlation of linkage phase (r) and effective population size (N e ) were also estimated. Estimates of inbreeding obtained with pedigree information were lower than those obtained with genomic data in both breeds. We observed that the extent of LD was slightly larger at shorter distances between SNPs in the LW population than in the LA population, which indicates that the LW population was derived from a smaller N e . Estimates of N e based on genomic data were equal to 53 and 40 for the current populations of LA and LW, respectively. The correlation of linkage phase between the two breeds was equal to 0.77 at distances up to 50 kb, which suggests that genome-wide association and selection should be performed within breed. Although selection intensities have been stronger in the LA breed than in the LW breed, levels of genomic and pedigree inbreeding were lower for the LA than for the LW breed. The use of genomic data to evaluate population diversity in livestock animals can provide new and more precise insights about the effects of intense selection for production traits. Resulting information and knowledge can be used to effectively increase response to selection by appropriately managing the rate of inbreeding, minimizing negative effects of inbreeding depression and therefore maintaining desirable levels of genetic diversity.

  2. DNA sequence determinants controlling affinity, stability and shape of DNA complexes bound by the nucleoid protein Fis

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Hancock, Stephen P.; Stella, Stefano; Cascio, Duilio

    The abundant Fis nucleoid protein selectively binds poorly related DNA sequences with high affinities to regulate diverse DNA reactions. Fis binds DNA primarily through DNA backbone contacts and selects target sites by reading conformational properties of DNA sequences, most prominently intrinsic minor groove widths. High-affinity binding requires Fis-stabilized DNA conformational changes that vary depending on DNA sequence. In order to better understand the molecular basis for high affinity site recognition, we analyzed the effects of DNA sequence within and flanking the core Fis binding site on binding affinity and DNA structure. X-ray crystal structures of Fis-DNA complexes containing variable sequencesmore » in the noncontacted center of the binding site or variations within the major groove interfaces show that the DNA can adapt to the Fis dimer surface asymmetrically. We show that the presence and position of pyrimidine-purine base steps within the major groove interfaces affect both local DNA bending and minor groove compression to modulate affinities and lifetimes of Fis-DNA complexes. Sequences flanking the core binding site also modulate complex affinities, lifetimes, and the degree of local and global Fis-induced DNA bending. In particular, a G immediately upstream of the 15 bp core sequence inhibits binding and bending, and A-tracts within the flanking base pairs increase both complex lifetimes and global DNA curvatures. Taken together, our observations support a revised DNA motif specifying high-affinity Fis binding and highlight the range of conformations that Fis-bound DNA can adopt. Lastly, the affinities and DNA conformations of individual Fis-DNA complexes are likely to be tailored to their context-specific biological functions.« less

  3. DNA sequence determinants controlling affinity, stability and shape of DNA complexes bound by the nucleoid protein Fis

    DOE PAGES

    Hancock, Stephen P.; Stella, Stefano; Cascio, Duilio; ...

    2016-03-09

    The abundant Fis nucleoid protein selectively binds poorly related DNA sequences with high affinities to regulate diverse DNA reactions. Fis binds DNA primarily through DNA backbone contacts and selects target sites by reading conformational properties of DNA sequences, most prominently intrinsic minor groove widths. High-affinity binding requires Fis-stabilized DNA conformational changes that vary depending on DNA sequence. In order to better understand the molecular basis for high affinity site recognition, we analyzed the effects of DNA sequence within and flanking the core Fis binding site on binding affinity and DNA structure. X-ray crystal structures of Fis-DNA complexes containing variable sequencesmore » in the noncontacted center of the binding site or variations within the major groove interfaces show that the DNA can adapt to the Fis dimer surface asymmetrically. We show that the presence and position of pyrimidine-purine base steps within the major groove interfaces affect both local DNA bending and minor groove compression to modulate affinities and lifetimes of Fis-DNA complexes. Sequences flanking the core binding site also modulate complex affinities, lifetimes, and the degree of local and global Fis-induced DNA bending. In particular, a G immediately upstream of the 15 bp core sequence inhibits binding and bending, and A-tracts within the flanking base pairs increase both complex lifetimes and global DNA curvatures. Taken together, our observations support a revised DNA motif specifying high-affinity Fis binding and highlight the range of conformations that Fis-bound DNA can adopt. Lastly, the affinities and DNA conformations of individual Fis-DNA complexes are likely to be tailored to their context-specific biological functions.« less

  4. Variation in parent–offspring kinship in socially monogamous systems with extra‐pair reproduction and inbreeding

    PubMed Central

    Reid, Jane M.; Bocedi, Greta; Nietlisbach, Pirmin; Duthie, A. Bradley; Wolak, Matthew E.; Gow, Elizabeth A.; Arcese, Peter

    2016-01-01

    Female extra‐pair reproduction in socially monogamous systems is predicted to cause cuckolded socially‐paired males to conditionally reduce paternal care, causing selection against extra‐pair reproduction and underlying polyandry. However, existing models and empirical studies have not explicitly considered that cuckolded males might be related to their socially‐paired female and/or to her extra‐pair mate, and therefore be related to extra‐pair offspring that they did not sire but could rear. Selection against paternal care, and hence against extra‐pair reproduction, might then be weakened. We derive metrics that quantify allele‐sharing between within‐pair and extra‐pair offspring and their mother and her socially‐paired male in terms of coefficients of kinship and inbreeding. We use song sparrow (Melospiza melodia) paternity and pedigree data to quantify these metrics, and thereby quantify the joint effects of extra‐pair reproduction and inbreeding on a brood's total allelic value to its socially‐paired parents. Cuckolded male song sparrows were almost always detectably related to extra‐pair offspring they reared. Consequently, although brood allelic value decreased substantially following female extra‐pair reproduction, this decrease was reduced by within‐pair and extra‐pair reproduction among relatives. Such complex variation in kinship within nuclear families should be incorporated into models considering coevolutionary dynamics of extra‐pair reproduction, parental care, and inbreeding. PMID:27174154

  5. The Relationship between Runs of Homozygosity and Inbreeding in Jersey Cattle under Selection

    PubMed Central

    Kim, Eui-Soo; Sonstegard, Tad S.; Van Tassell, Curtis P.; Wiggans, George; Rothschild, Max F.

    2015-01-01

    Inbreeding is often an inevitable outcome of strong directional artificial selection but on average it reduces population fitness with increased frequency of recessive deleterious alleles. Runs of homozygosity (ROH) representing genomic autozygosity that occur from mating between selected and genomically related individuals may be able to reveal the regions affecting fitness. To examine the influence of genomic autozygosity on fitness, we used a genome-wide association test to evaluate potential negative correlations between ROH and daughter pregnancy rate (DPR) or somatic cell score (SCS) in US Jersey cattle. In addition, relationships between changes of local ROH and inbreeding coefficients (F) were assessed to locate genomic regions with increased inbreeding. Despite finding some decreases in fertility associated with incremental increases in F, most emerging local ROH were not significantly associated with DPR or SCS. Furthermore, the analyses of ROH could be approximated with the most frequent haplotype(s), including the associations of ROH and F or traits. The analysis of the most frequent haplotype revealed that associations of ROH and fertility could be accounted for by the additive genetic effect on the trait. Thus, we suggest that a change of autozygosity is more likely to demonstrate footprints of selected haplotypes for production rather than highlight the possible increased local autozygosity of a recessive detrimental allele resulting from the mating between closely related animals in Jersey cattle. PMID:26154171

  6. Inbreeding and immigration in urban and rural zones of Chile, with an endogamy index.

    PubMed

    Lazo, B; Campusano, C; Figueroa, H; Pinto-Cisternas, J; Zambra, E

    1978-01-01

    In order to establish relationships among immigration, inbreeding, and age at marriage in urban and rural zones in Chile, and to formulate an endogamy index, ecclesiastical and civil data on consanguinity from 1865-1914 were analyzed, and a random mating deviation index was developed, with resulting values indicating deviation toward endogamy in both zones. Data grouped by zones and decades include means of population and density, nuptiality, consanguineous marriages (number, types, frequencies, and inbreeding coefficients), and frequencies of immigrants among consanguineous and nonconsanguineous couples. All of these values differ markedly between zones, with values in the rural zone double those in the urban zone. In the 2 zones, there are no clear differences in age at marriage between consanguineous and nonconsanguineous couples, and this is an important finding. From the point of view of fertility, one can expect a similar length period of fertility for both groups of couples. In this case, lower fertility might be expected in consanguineous marriages, only because of a higher probability of homozygosis of deleterious genes.

  7. Inbreeding avoidance in cunningham's skinks (Egernia cunninghami) in natural and fragmented habitat.

    PubMed

    Stow, A J; Sunnucks, P

    2004-02-01

    Habitat fragmentation/alteration has been proposed as a distinct process threatening the viability of populations of many organisms. One expression of its impact may be the disruption of core population processes such as inbreeding avoidance. Using the experimental design outlined in our companion paper, we report on the impact of habitat alteration (deforestation) on inbreeding in the rock-dwelling Australian lizard Egernia cunninghami. Ten microsatellite loci were used to calculate relatedness coefficients of potential and actual breeding pairs, and to examine mate-choice and heterozygosity. Despite significantly less dispersal and higher within-group relatedness between potential mates in deforested than in natural habitats, this did not result in significantly more inbred matings. Average relatedness amongst breeding pairs was low, with no significant difference between natural and fragmented populations in relatedness between breeding pairs, or individual heterozygosity. Active avoidance of close kin as mates was indicated by the substantially and significantly lower relatedness in actual breeding pairs than potential ones. These facts, and heterozygote excesses in all groups of immature lizards from both habitats, show that E. cunninghami maintained outbreeding in the face of increased accumulation of relatives.

  8. A Targeted Mutation Identified through pKa Measurements Indicates a Postrecruitment Role for Fis1 in Yeast Mitochondrial Fission*

    PubMed Central

    Koppenol-Raab, Marijke; Harwig, Megan Cleland; Posey, Ammon E.; Egner, John M.; MacKenzie, Kevin R.; Hill, R. Blake

    2016-01-01

    The tail-anchored protein Fis1 is implicated as a passive tether in yeast mitochondrial fission. We probed the functional role of Fis1 Glu-78, whose elevated side chain pKa suggests participation in protein interactions. Fis1 binds partners Mdv1 or Dnm1 tightly, but mutation E78A weakens Fis1 interaction with Mdv1, alters mitochondrial morphology, and abolishes fission in a growth assay. In fis1Δ rescue experiments, Fis1-E78A causes a novel localization pattern in which Dnm1 uniformly coats the mitochondria. By contrast, Fis1-E78A at lower expression levels recruits Dnm1 into mitochondrial punctate structures but fails to support normal fission. Thus, Fis1 makes multiple interactions that support Dnm1 puncta formation and may be essential after this step, supporting a revised model for assembly of the mitochondrial fission machinery. The insights gained by mutating a residue with a perturbed pKa suggest that side chain pKa values inferred from routine NMR sample pH optimization could provide useful leads for functional investigations. PMID:27496949

  9. Monitoring changes in the demographic and genealogical structure of the main Spanish local beef breeds.

    PubMed

    Cañas-Álvarez, J J; Gónzalez-Rodríguez, A; Martín-Collado, D; Avilés, C; Altarriba, J; Baro, J A; De la Fuente, L F; Díaz, C; Molina, A; Varona, L; Piedrafita, J

    2014-10-01

    Demographic and pedigree analyses describe the structure and dynamics of livestock populations. We studied information recorded in the herdbooks of Asturiana de los Valles (AV; N = 458,806), Avileña-Negra Ibérica (ANI; N = 204,623), Bruna dels Pirineus (BP; N = 62,138), Morucha (Mo; N = 65,350), Pirenaica (Pi; N = 217,428), Retinta (Re; N = 135,300), and Rubia Gallega (RG; N = 235,511) beef breeds from their creation until 2009. All breeds have increased in the number of registered cows in recent years. In all breeds, herds do not behave as isolated entities and a high rate of exchange of breeding males between herds exists. A percentage of herds (12-52%) make some type of selection and sell bulls to other herds. There were large differences in average number of progeny per bull, ranging from 15.6 (AV) to 373.7 animals (RG, with a high incidence of AI). Generation interval estimates ranged from 4.7 (AV) to 7.6 (RG) yr in the sire pathway and from 5.95 (AV) to 7.8 (Mo) yr in the dam pathway. Density of pedigrees varied among breeds, with Pi, ANI, and Re having the more dense pedigrees, with average completeness indexes of more than 96% in the first generation and 80% when 6 generations were considered. A general increase in average inbreeding was observed in all breeds in the years analyzed. For animals born in 2009, average inbreeding coefficients ranged from 0.6 (BP) to 7.2% (Re) when all animals were considered and from 3.6 (Pi) to 17.6% (BP) when only inbred animals were considered. Due to the lack of completeness of pedigrees in most populations, inbreeding coefficients may be considered as a lower bound of the true parameters. The proportion of inbred animals tended to increase in the periods analyzed in all breeds. Differences between inbreeding and coancestry rates (except in RG) suggest the presence of population structure. Effective population size (Ne) based on the inbreeding rate estimated by regression ranged from 43 to 378 for Re and BP, whereas Ne estimates based on coancestry were greater, with a range of 100 for RG to 9,985 for BP. These facts suggest that an adequate mating policy can help to monitor inbreeding so as not to lose genetic variability. Effective number of ancestors in 2009 for 6 of the breeds ranged from 42 (RG) to 220 (AV), with BP having much a greater value, and was lower than was the effective number of founders in all breeds, suggesting the existence of bottlenecks.

  10. Mutations in Fis1 disrupt orderly disposal of defective mitochondria

    PubMed Central

    Shen, Qinfang; Yamano, Koji; Head, Brian P.; Kawajiri, Sumihiro; Cheung, Jesmine T. M.; Wang, Chunxin; Cho, Jeong-Hoon; Hattori, Nobutaka; Youle, Richard J.; van der Bliek, Alexander M.

    2014-01-01

    Mitochondrial fission is mediated by the dynamin-related protein Drp1 in metazoans. Drp1 is recruited from the cytosol to mitochondria by the mitochondrial outer membrane protein Mff. A second mitochondrial outer membrane protein, named Fis1, was previously proposed as recruitment factor, but Fis1−/− cells have mild or no mitochondrial fission defects. Here we show that Fis1 is nevertheless part of the mitochondrial fission complex in metazoan cells. During the fission cycle, Drp1 first binds to Mff on the surface of mitochondria, followed by entry into a complex that includes Fis1 and endoplasmic reticulum (ER) proteins at the ER–mitochondrial interface. Mutations in Fis1 do not normally affect fission, but they can disrupt downstream degradation events when specific mitochondrial toxins are used to induce fission. The disruptions caused by mutations in Fis1 lead to an accumulation of large LC3 aggregates. We conclude that Fis1 can act in sequence with Mff at the ER–mitochondrial interface to couple stress-induced mitochondrial fission with downstream degradation processes. PMID:24196833

  11. Impact of parental relationships in maximum lod score affected sib-pair method.

    PubMed

    Leutenegger, Anne-Louise; Génin, Emmanuelle; Thompson, Elizabeth A; Clerget-Darpoux, Françoise

    2002-11-01

    Many studies are done in small isolated populations and populations where marriages between relatives are encouraged. In this paper, we point out some problems with applying the maximum lod score (MLS) method (Risch, [1990] Am. J. Hum. Genet. 46:242-253) in these populations where relationships exist between the two parents of the affected sib-pairs. Characterizing the parental relationships by the kinship coefficient between the parents (f), the maternal inbreeding coefficient (alpha(m), and the paternal inbreeding coefficient (alpha(p)), we explored the relationship between the identity by descent (IBD) vector expected under the null hypothesis of no linkage and these quantities. We find that the expected IBD vector is no longer (0.25, 0.5, 0.25) when f, alpha(m), and alpha(p) differ from zero. In addition, the expected IBD vector does not always follow the triangle constraints recommended by Holmans ([1993] Am. J. Hum. Genet. 52:362-374). So the classically used MLS statistic needs to be adapted to the presence of parental relationships. We modified the software GENEHUNTER (Kruglyak et al. [1996] Am. J. Hum. Genet. 58: 1347-1363) to do so. Indeed, the current version of the software does not compute the likelihood properly under the null hypothesis. We studied the adapted statistic by simulating data on three different family structures: (1) parents are double first cousins (f=0.125, alpha(m)=alpha(p)=0), (2) each parent is the offspring of first cousins (f=0, alpha(m)=alpha(p)=0.0625), and (3) parents are related as in the pedigree from Goddard et al. ([1996] Am. J. Hum. Genet. 58:1286-1302) (f=0.109, alpha(m)=alpha(p)=0.0625). The appropriate threshold needs to be derived for each case in order to get the correct type I error. And using the classical statistic in the presence of both parental kinship and parental inbreeding almost always leads to false conclusions. Copyright 2002 Wiley-Liss, Inc.

  12. Dental occlusion in a split Amazon indigenous population: genetics prevails over environment.

    PubMed

    Normando, David; Faber, Jorge; Guerreiro, João Farias; Quintão, Cátia Cardoso Abdo

    2011-01-01

    Studies examining human and nonhuman primates have supported the hypothesis that the recent increase in the occurrence of misalignment of teeth and/or incorrect relation of dental arches, named dental malocclusion, is mainly attributed to the availability of a more processed diet and the reduced need for powerful masticatory action. For the first time on live human populations, genetic and tooth wear influences on occlusal variation were examined in a split indigenous population. The Arara-Iriri people are descendants of a single couple expelled from a larger village. In the resultant village, expansion occurred through the mating of close relatives, resulting in marked genetic cohesion with substantial genetic differences. Dental malocclusion, tooth wear and inbreeding coefficient were evaluated. The sample examined was composed of 176 individuals from both villages. Prevalence Ratio and descriptive differences in the outcomes frequency for each developmental stage of the dentition were considered. Statistical differences between the villages were examined using the chi-square test or Fisher's exact statistic. Tooth wear and the inbreeding coefficient (F) between the villages was tested with Mann-Whitney statistics. All the statistics were performed using two-tailed distribution at p≤0.05. The coefficient inbreeding (F) confirmed the frequent incestuous unions among the Arara-Iriri indigenous group. Despite the tooth wear similarities, we found a striking difference in occlusal patterns between the two Arara villages. In the original village, dental malocclusion was present in about one third of the population; whilst in the resultant village, the occurrence was almost doubled. Furthermore, the morphological characteristics of malocclusion were strongly different between the groups. Our findings downplay the widespread influence of tooth wear, a direct evidence of what an individual ate in the past, on occlusal variation of living human populations. They also suggest that genetics plays the most important role on dental malocclusion etiology. © 2011 Normando et al.

  13. What Happens after Inbreeding Avoidance? Inbreeding by Rejected Relatives and the Inclusive Fitness Benefit of Inbreeding Avoidance

    PubMed Central

    Duthie, A. Bradley; Reid, Jane M.

    2015-01-01

    Avoiding inbreeding, and therefore avoiding inbreeding depression in offspring fitness, is widely assumed to be adaptive in systems with biparental reproduction. However, inbreeding can also confer an inclusive fitness benefit stemming from increased relatedness between parents and inbred offspring. Whether or not inbreeding or avoiding inbreeding is adaptive therefore depends on a balance between inbreeding depression and increased parent-offspring relatedness. Existing models of biparental inbreeding predict threshold values of inbreeding depression above which males and females should avoid inbreeding, and predict sexual conflict over inbreeding because these thresholds diverge. However, these models implicitly assume that if a focal individual avoids inbreeding, then both it and its rejected relative will subsequently outbreed. We show that relaxing this assumption of reciprocal outbreeding, and the assumption that focal individuals are themselves outbred, can substantially alter the predicted thresholds for inbreeding avoidance for focal males. Specifically, the magnitude of inbreeding depression below which inbreeding increases a focal male’s inclusive fitness increases with increasing depression in the offspring of a focal female and her alternative mate, and it decreases with increasing relatedness between a focal male and a focal female’s alternative mate, thereby altering the predicted zone of sexual conflict. Furthermore, a focal male’s inclusive fitness gain from avoiding inbreeding is reduced by indirect opportunity costs if his rejected relative breeds with another relative of his. By demonstrating that variation in relatedness and inbreeding can affect intra- and inter-sexual conflict over inbreeding, our models lead to novel predictions for family dynamics. Specifically, parent-offspring conflict over inbreeding might depend on the alternative mates of rejected relatives, and male-male competition over inbreeding might lead to mixed inbreeding strategies. Making testable quantitative predictions regarding inbreeding strategies occurring in nature will therefore require new models that explicitly capture variation in relatedness and inbreeding among interacting population members. PMID:25909185

  14. Variation in parent-offspring kinship in socially monogamous systems with extra-pair reproduction and inbreeding.

    PubMed

    Reid, Jane M; Bocedi, Greta; Nietlisbach, Pirmin; Duthie, A Bradley; Wolak, Matthew E; Gow, Elizabeth A; Arcese, Peter

    2016-07-01

    Female extra-pair reproduction in socially monogamous systems is predicted to cause cuckolded socially-paired males to conditionally reduce paternal care, causing selection against extra-pair reproduction and underlying polyandry. However, existing models and empirical studies have not explicitly considered that cuckolded males might be related to their socially-paired female and/or to her extra-pair mate, and therefore be related to extra-pair offspring that they did not sire but could rear. Selection against paternal care, and hence against extra-pair reproduction, might then be weakened. We derive metrics that quantify allele-sharing between within-pair and extra-pair offspring and their mother and her socially-paired male in terms of coefficients of kinship and inbreeding. We use song sparrow (Melospiza melodia) paternity and pedigree data to quantify these metrics, and thereby quantify the joint effects of extra-pair reproduction and inbreeding on a brood's total allelic value to its socially-paired parents. Cuckolded male song sparrows were almost always detectably related to extra-pair offspring they reared. Consequently, although brood allelic value decreased substantially following female extra-pair reproduction, this decrease was reduced by within-pair and extra-pair reproduction among relatives. Such complex variation in kinship within nuclear families should be incorporated into models considering coevolutionary dynamics of extra-pair reproduction, parental care, and inbreeding. 2016 The Author(s). Evolution published by Wiley Periodicals, Inc. on behalf of The Society for the Study of Evolution.

  15. Evidence for Conformationa1 Heterogeneity of Fission Protein Fis1 from Saccharomyces cerevisiae†

    PubMed Central

    Picton, Lora K.; Casares, Salvador; Monahan, Ann C.; Majumdar, Ananya; Hill, R. Blake

    2009-01-01

    Fission 1 (Fis1) is an evolutionarily conserved, type II integral membrane protein implicated in maintaining the proper morphology of mitochondria and peroxisomes. A concave surface on the cytosolic domain of Fis1 from Saccharomyces cerevisiae is implicated in binding other fission proteins, yet structural studies reveal that this surface is sterically occluded by its N-terminal arm. Here we address the question of whether the N-terminal arm of yeast Fis1 exists in a dynamic equilibrium that would allow access to this functionally important surface. NMR measurements sensitive to dynamics occurring on a wide range of time scales (picoseconds to minutes) were used to assess whether the Fis1 arm is dynamic. Hydrogen–deuterium exchange experiments revealed that the Fis1 arm, α-helix 6, and proximal loops were not protected from solvent exchange, consistent with motions on the second to minute time scale. An engineered cysteine, I85C, located on the concave surface that lies underneath the Fis1 arm, was readily modified by a fluorescent probe, revealing more solvent accessibility of this position than would be predicted from the structure. Chemical denaturation, NMR chemical shift perturbation, and residual dipolar coupling experiments support the idea that the dynamic equilibrium can be shifted on the basis of changing pH and temperature, with the changes primarily localizing to the Fis1 arm and proximal regions. The data as a whole are consistent with the Fis1 arm adopting a primarily “closed” conformational state able to undergo dynamic excursions that reveal the concave surface and therefore may be important for binding other fission factors and for Fis1 function. PMID:19522466

  16. A designed point mutant in Fis1 disrupts dimerization and mitochondrial fission

    PubMed Central

    Lees, Jonathan P. B.; Manlandro, Cara Marie; Picton, Lora K.; Ebie Tan, Alexandra Z.; Casares, Salvador; Flanagan, John M.; Fleming, Karen G.; Hill, R. Blake

    2012-01-01

    Mitochondrial and peroxisomal fission are essential processes with defects resulting in cardiomyopathy and neonatal lethality. Central to organelle fission is Fis1, a monomeric tetratricopeptide-like repeat (TPR) protein whose role in assembly of the fission machinery remains obscure. Two non-functional, Saccharomyces cerevisiae Fis1 mutants (L80P or E78D/I85T/Y88H) were previously identified in genetic screens. Here, we find that these two variants in the cytosolic domain of Fis1 (Fis1ΔTM) are unexpectedly dimeric. A truncation variant of Fis1ΔTM that lacks an N-terminal regulatory domain is also found to be dimeric. The ability to dimerize is a property innate to the native Fis1ΔTM amino acid sequence as we find this domain is dimeric after transient exposure to elevated temperature or chemical denaturants and is kinetically trapped at room temperature. This is the first demonstration of a specific self-association in solution for the Fis1 cytoplasmic domain. We propose a three-dimensional domain-swapped model for dimerization that is validated by a designed mutation, A72P, which potently disrupts dimerization of wild type Fis1. A72P also disrupts dimerization of non-functional variants indicating a common structural basis for dimerization. The obligate monomer variant A72P, like the dimer-promoting variants, is non-functional in fission consistent with a model in which Fis1 activity depends on its ability to interconvert between monomer and dimer species. These studies suggest a new functionally important manner in which TPR containing proteins may reversibly self-associate. PMID:22789569

  17. Immunogenetic and population genetic analyses of Iberian cattle.

    PubMed

    Kidd, K K; Stone, W H; Crimella, C; Carenzi, C; Casati, M; Rognoni, G

    1980-01-01

    Blood samples were collected from more than 100 animals in each of 2 Spanish cattle breeds (Retinto and De Lidia), 2 Portuguese breeds (Alentejana and Mertolenga), and American Longhorn cattle. All samples for the 4 Iberian breeds were tested for 20 polymorphic systems; American Longhorn were tested for 19 of the 20. For each breed an average inbreeding coefficient was estimated by a comparison of the observed and expected heterozygosity at 7 or 8 codominant systems tested. All breeds had positive values but only 3 breeds had estimates of inbreeding that were statistically significantly different from 0: De Lidia with f = 0.17, Retinto with f = 0.08 and Mertolenga with f = 0.05. The De Lidia breed especially may be suffering from inbreeding depression since this high value is greater than expected if all of the animals were progeny of half-sib matings. Genetic distances were calculated from the gene frequency data on these 5 breeds plus 9 other European breeds. Analyses of these distances show a closely related group of the 4 Iberian breeds and American Longhorn, confirming the close relationships among the Iberian breeds and the Iberian, probably Portuguese, origin of American Longhorn cattle.

  18. Evolution of precopulatory and post-copulatory strategies of inbreeding avoidance and associated polyandry.

    PubMed

    Duthie, A B; Bocedi, G; Germain, R R; Reid, J M

    2018-01-01

    Inbreeding depression is widely hypothesized to drive adaptive evolution of precopulatory and post-copulatory mechanisms of inbreeding avoidance, which in turn are hypothesized to affect evolution of polyandry (i.e. female multiple mating). However, surprisingly little theory or modelling critically examines selection for precopulatory or post-copulatory inbreeding avoidance, or both strategies, given evolutionary constraints and direct costs, or examines how evolution of inbreeding avoidance strategies might feed back to affect evolution of polyandry. Selection for post-copulatory inbreeding avoidance, but not for precopulatory inbreeding avoidance, requires polyandry, whereas interactions between precopulatory and post-copulatory inbreeding avoidance might cause functional redundancy (i.e. 'degeneracy') potentially generating complex evolutionary dynamics among inbreeding strategies and polyandry. We used individual-based modelling to quantify evolution of interacting precopulatory and post-copulatory inbreeding avoidance and associated polyandry given strong inbreeding depression and different evolutionary constraints and direct costs. We found that evolution of post-copulatory inbreeding avoidance increased selection for initially rare polyandry and that evolution of a costly inbreeding avoidance strategy became negligible over time given a lower-cost alternative strategy. Further, fixed precopulatory inbreeding avoidance often completely precluded evolution of polyandry and hence post-copulatory inbreeding avoidance, but fixed post-copulatory inbreeding avoidance did not preclude evolution of precopulatory inbreeding avoidance. Evolution of inbreeding avoidance phenotypes and associated polyandry is therefore affected by evolutionary feedbacks and degeneracy. All else being equal, evolution of precopulatory inbreeding avoidance and resulting low polyandry is more likely when post-copulatory inbreeding avoidance is precluded or costly, and evolution of post-copulatory inbreeding avoidance greatly facilitates evolution of costly polyandry. © The Authors. Journal of Evolutionary Biology published by John Wiley & Sons Ltd on behalf of European Society for Evolutionary Biology.

  19. Effects of population succession on demographic and genetic processes: predictions and tests in the daylily Hemerocallis thunbergii (Liliaceae).

    PubMed

    Chung, Mi Yoon; Nason, John D; Chung, Myong Gi

    2007-07-01

    Spatial genetic structure within plant populations is influenced by variation in demographic processes through space and time, including a population's successional status. To determine how demographic structure and fine-scale genetic structure (FSGS) change with stages in a population's successional history, we studied Hemerocallis thunbergii (Liliaceae), a nocturnal flowering and hawkmoth-pollinated herbaceous perennial with rapid population turnover dynamics. We examined nine populations assigned to three successive stages of population succession: expansion, maturation, and senescence. We developed stage-specific expectations for within-population demographic and genetic structure, and then for each population quantified the spatial aggregation of individuals and genotypes using spatial autocorrelation methods (nonaccumulative O-ring and kinship statistics, respectively), and at the landscape level measured inbreeding and genetic structure using Wright's F-statistics. Analyses using the O-ring statistic revealed significant aggregation of individuals at short spatial scales in expanding and senescing populations, in particular, which may reflect restricted seed dispersal around maternal individuals combined with relatively low local population densities at these stages. Significant FSGS was found for three of four expanding, no mature, and only one senescing population, a pattern generally consistent with expectations of successional processes. Although allozyme genetic diversity was high within populations (mean %P = 78.9 and H(E) = 0.281), landscape-level differentiation among sites was also high (F(ST) = 0.166) and all populations exhibited a significant deficit of heterozygotes relative to Hardy-Weinberg expectations (range F = 0.201-0.424, mean F(IS) = 0.321). Within populations, F was not correlated with the degree of FSGS, thus suggesting inbreeding due primarily to selfing as opposed to mating among close relatives in spatially structured populations. Our results demonstrate considerable variation in the spatial distribution of individuals and patterns and magnitude of FSGS in H. thunbergii populations across the landscape. This variation is generally consistent with succession-stage-specific differences in ecological processes operating within these populations.

  20. Evidence that disease-induced population decline changes genetic structure and alters dispersal patterns in the Tasmanian devil

    PubMed Central

    Lachish, S; Miller, K J; Storfer, A; Goldizen, A W; Jones, M E

    2011-01-01

    Infectious disease has been shown to be a major cause of population declines in wild animals. However, there remains little empirical evidence on the genetic consequences of disease-mediated population declines, or how such perturbations might affect demographic processes such as dispersal. Devil facial tumour disease (DFTD) has resulted in the rapid decline of the Tasmanian devil, Sarcophilus harrisii, and threatens to cause extinction. Using 10 microsatellite DNA markers, we compared genetic diversity and structure before and after DFTD outbreaks in three Tasmanian devil populations to assess the genetic consequences of disease-induced population decline. We also used both genetic and demographic data to investigate dispersal patterns in Tasmanian devils along the east coast of Tasmania. We observed a significant increase in inbreeding (FIS pre/post-disease −0.030/0.012, P<0.05; relatedness pre/post-disease 0.011/0.038, P=0.06) in devil populations after just 2–3 generations of disease arrival, but no detectable change in genetic diversity. Furthermore, although there was no subdivision apparent among pre-disease populations (θ=0.005, 95% confidence interval (CI) −0.003 to 0.017), we found significant genetic differentiation among populations post-disease (θ=0.020, 0.010–0.027), apparently driven by a combination of selection and altered dispersal patterns of females in disease-affected populations. We also show that dispersal is male-biased in devils and that dispersal distances follow a typical leptokurtic distribution. Our results show that disease can result in genetic and demographic changes in host populations over few generations and short time scales. Ongoing management of Tasmanian devils must now attempt to maintain genetic variability in this species through actions designed to reverse the detrimental effects of inbreeding and subdivision in disease-affected populations. PMID:20216571

  1. Inbreeding parents should invest more resources in fewer offspring.

    PubMed

    Duthie, A Bradley; Lee, Aline M; Reid, Jane M

    2016-11-30

    Inbreeding increases parent-offspring relatedness and commonly reduces offspring viability, shaping selection on reproductive interactions involving relatives and associated parental investment (PI). Nevertheless, theories predicting selection for inbreeding versus inbreeding avoidance and selection for optimal PI have only been considered separately, precluding prediction of optimal PI and associated reproductive strategy given inbreeding. We unify inbreeding and PI theory, demonstrating that optimal PI increases when a female's inbreeding decreases the viability of her offspring. Inbreeding females should therefore produce fewer offspring due to the fundamental trade-off between offspring number and PI. Accordingly, selection for inbreeding versus inbreeding avoidance changes when females can adjust PI with the degree that they inbreed. By contrast, optimal PI does not depend on whether a focal female is herself inbred. However, inbreeding causes optimal PI to increase given strict monogamy and associated biparental investment compared with female-only investment. Our model implies that understanding evolutionary dynamics of inbreeding strategy, inbreeding depression, and PI requires joint consideration of the expression of each in relation to the other. Overall, we demonstrate that existing PI and inbreeding theories represent special cases of a more general theory, implying that intrinsic links between inbreeding and PI affect evolution of behaviour and intrafamilial conflict. © 2016 The Authors.

  2. Evolution of Inbreeding Avoidance and Inbreeding Preference through Mate Choice among Interacting Relatives.

    PubMed

    Duthie, A Bradley; Reid, Jane M

    2016-12-01

    While extensive population genetic theory predicts conditions favoring evolution of self-fertilization versus outcrossing, there is no analogous theory that predicts conditions favoring evolution of inbreeding avoidance or inbreeding preference enacted through mate choice given obligate biparental reproduction. Multiple interacting processes complicate the dynamics of alleles underlying such inbreeding strategies, including sexual conflict, distributions of kinship, genetic drift, purging of mutation load, direct costs, and restricted kin discrimination. We incorporated these processes into an individual-based model to predict conditions where selection should increase or decrease frequencies of alleles causing inbreeding avoidance or inbreeding preference when females or males controlled mating. Selection for inbreeding avoidance occurred given strong inbreeding depression when either sex chose mates, while selection for inbreeding preference occurred given very weak inbreeding depression when females chose but never occurred when males chose. Selection for both strategies was constrained by direct costs and restricted kin discrimination. Purging was negligible, but allele frequencies were strongly affected by drift in small populations, while selection for inbreeding avoidance was weak in larger populations because inbreeding risk decreased. Therefore, while selection sometimes favored alleles underlying inbreeding avoidance or preference, evolution of such strategies may be much more restricted and stochastic than is commonly presumed.

  3. Inbreeding and inbreeding avoidance in wild giant pandas.

    PubMed

    Hu, Yibo; Nie, Yonggang; Wei, Wei; Ma, Tianxiao; Van Horn, Russell; Zheng, Xiaoguang; Swaisgood, Ronald R; Zhou, Zhixin; Zhou, Wenliang; Yan, Li; Zhang, Zejun; Wei, Fuwen

    2017-10-01

    Inbreeding can have negative consequences on population and individual fitness, which could be counteracted by inbreeding avoidance mechanisms. However, the inbreeding risk and inbreeding avoidance mechanisms in endangered species are less studied. The giant panda, a solitary and threatened species, lives in many small populations and suffers from habitat fragmentation, which may aggravate the risk of inbreeding. Here, we performed long-term observations of reproductive behaviour, sampling of mother-cub pairs and large-scale genetic analyses on wild giant pandas. Moderate levels of inbreeding were found in 21.1% of mating pairs, 9.1% of parent pairs and 7.7% of panda cubs, but no high-level inbreeding occurred. More significant levels of inbreeding may be avoided passively by female-biased natal dispersal rather than by breeding dispersal or active relatedness-based mate choice mechanisms. The level of inbreeding in giant pandas is greater than expected for a solitary mammal and thus warrants concern for potential inbreeding depression, particularly in small populations isolated by continuing habitat fragmentation, which will reduce female dispersal and increase the risk of inbreeding. © 2017 John Wiley & Sons Ltd.

  4. Heterozygosity-fitness correlations in a wild mammal population: accounting for parental and environmental effects.

    PubMed

    Annavi, Geetha; Newman, Christopher; Buesching, Christina D; Macdonald, David W; Burke, Terry; Dugdale, Hannah L

    2014-06-01

    HFCs (heterozygosity-fitness correlations) measure the direct relationship between an individual's genetic diversity and fitness. The effects of parental heterozygosity and the environment on HFCs are currently under-researched. We investigated these in a high-density U.K. population of European badgers (Meles meles), using a multimodel capture-mark-recapture framework and 35 microsatellite loci. We detected interannual variation in first-year, but not adult, survival probability. Adult females had higher annual survival probabilities than adult males. Cubs with more heterozygous fathers had higher first-year survival, but only in wetter summers; there was no relationship with individual or maternal heterozygosity. Moist soil conditions enhance badger food supply (earthworms), improving survival. In dryer years, higher indiscriminate mortality rates appear to mask differential heterozygosity-related survival effects. This paternal interaction was significant in the most supported model; however, the model-averaged estimate had a relative importance of 0.50 and overlapped zero slightly. First-year survival probabilities were not correlated with the inbreeding coefficient (f); however, small sample sizes limited the power to detect inbreeding depression. Correlations between individual heterozygosity and inbreeding were weak, in line with published meta-analyses showing that HFCs tend to be weak. We found support for general rather than local heterozygosity effects on first-year survival probability, and g2 indicated that our markers had power to detect inbreeding. We emphasize the importance of assessing how environmental stressors can influence the magnitude and direction of HFCs and of considering how parental genetic diversity can affect fitness-related traits, which could play an important role in the evolution of mate choice.

  5. The use (or misuse) of microsatellite allelic distances in the context of inbreeding and conservation genetics.

    PubMed

    Hansson, Bengt

    2010-03-01

    In line with inbreeding theory, genetic diversity at a set of molecular markers may explain variation in fitness-associated traits in partially inbred populations, and such associations will appear as 'genotype-fitness correlations'. An individual genetic diversity index specifically used for microsatellites is 'mean d(2)', i.e. the mean squared distance between alleles. The original hypothesis for mean d(2)-fitness correlations assumes that mean d(2) captures fitness effects at both ends of the inbreeding-outbreeding spectrum. This hypothesis received strong criticism from work showing that even a plain diversity estimate such as multi-locus heterozygosity (MLH) outperforms mean d(2) as a predictor of the inbreeding coefficient and fitness in most realistic situations. Despite this critique, the mean d(2)-approach is still used frequently in ecological and evolutionary research, producing results suggesting that mean d(2) sometimes provides a stronger prediction of fitness than does MLH. In light of the critique, such results are unexpected, but potential explanations for them may exist (at least hypothetically), including scenarios based on close linkage and recent admixture. Nevertheless, a major caveat is that it is very difficult to predict a priori if mean d(2) will improve the genotype-fitness correlation, which in turn makes objective interpretations difficult. Mean d(2)-fitness associations are potentially interesting, but the fact that we cannot easily understand them is problematic and should be thoroughly addressed in each study. Therefore, instead of hastily reached interpretations of mean d(2)-fitness correlations, conclusions need support from complementary analyses, e.g. verifying admixture of genetically structured populations.

  6. Therapist facilitative interpersonal skills and training status: A randomized clinical trial on alliance and outcome.

    PubMed

    Anderson, Timothy; Crowley, Mary Ellen J; Himawan, Lina; Holmberg, Jennifer K; Uhlin, Brian D

    2016-09-01

    Therapist effects, independent of the treatment provided, have emerged as a contributor to psychotherapy outcomes. However, past research largely has not identified which therapist factors might be contributing to these effects, though research on psychotherapy implicates relational characteristics. The present Randomized Clinical Trial tested the efficacy of therapists who were selected by their facilitative interpersonal skills (FIS) and training status. Sixty-five clients were selected from 2713 undergraduates using a screening and clinical interview procedure. Twenty-three therapists met with 2 clients for 7 sessions and 20 participants served in a no-treatment control group. Outcome and alliance differences for Training Status were negligible. High FIS therapists had greater pre-post client outcome, and higher rates of change across sessions, than low FIS therapists. All clients treated by therapists improved more than the silent control, but effects were greater with high FIS than low FIS therapists. From the first session, high FIS therapists also had higher alliances than low FIS therapists as well as significant improvements on client-rated alliance. Results were consistent with the hypothesis that therapists' common relational skills are independent contributors to therapeutic alliance and outcome.

  7. Factors influencing litter size and puppy losses in the Entlebucher Mountain dog.

    PubMed

    Schrack, J; Dolf, G; Reichler, I M; Schelling, C

    2017-06-01

    A good reproductive performance is a central element of animal breeding. The breeders of Entlebucher Mountain dogs observed a decrease of the mean litter size and an increase of the number of unsuccessful matings in the past years. The aim of the present study was to identify factors with an influence on fertility in this breed. In total, 915 litters from 202 sires and 348 dams from 1986 to 2013 entered the analyses. The total puppy losses (7.4%) reduced the mean litter size at birth of 5.49 ± 2.13 to a mean litter size at registration of 5.08 ± 2.05. There was no deviation from the expected equal sex distribution for puppies at birth and at registration, as well as for puppy losses consisting of stillborn puppies and puppies which died or had to be euthanized before registration. The mean annual litter inbreeding coefficient increased from 0.37 in 1986 to 0.40 in 2013 and was correlated with the year of birth of the litter (Kendall's tau b = 0.46). The age of the dam and parental inbreeding were identified as significant predictors with a negative effect on litter size at birth. For the litter size at registration the age and inbreeding of the dam had a significant negative effect and a 1% increase of dam inbreeding is expected to decrease the litter size at birth and registration by 0.1 and 0.09 puppies, respectively. The occurrence of total puppy losses decreased during the years and was more frequent in larger litters. In addition, in litters of older parents the occurrence of puppy losses was more frequent than in litters from younger parents. The final generalized linear mixed-effects models for litter size at birth, litter size at registration and for total puppy losses explained 36%, 33% and 22% of the total variance, respectively. The impact of inbreeding and parental age on fertility of the Entlebucher Mountain dog was small and the influence of the dam was much bigger than the one of the sire. Other factors must be responsible for the variability of litter sizes not explained by the models. Without changes of breeding circumstances, a further increase of inbreeding must be expected. Therefore, a close monitoring and minimizing of inbreeding must be followed up by the breeding community. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. AMPK/FIS1-Mediated Mitophagy Is Required for Self-Renewal of Human AML Stem Cells.

    PubMed

    Pei, Shanshan; Minhajuddin, Mohammad; Adane, Biniam; Khan, Nabilah; Stevens, Brett M; Mack, Stephen C; Lai, Sisi; Rich, Jeremy N; Inguva, Anagha; Shannon, Kevin M; Kim, Hyunmin; Tan, Aik-Choon; Myers, Jason R; Ashton, John M; Neff, Tobias; Pollyea, Daniel A; Smith, Clayton A; Jordan, Craig T

    2018-06-06

    Leukemia stem cells (LSCs) are thought to drive the genesis of acute myeloid leukemia (AML) as well as relapse following chemotherapy. Because of their unique biology, developing effective methods to eradicate LSCs has been a significant challenge. In the present study, we demonstrate that intrinsic overexpression of the mitochondrial dynamics regulator FIS1 mediates mitophagy activity that is essential for primitive AML cells. Depletion of FIS1 attenuates mitophagy and leads to inactivation of GSK3, myeloid differentiation, cell cycle arrest, and a profound loss of LSC self-renewal potential. Further, we report that the central metabolic stress regulator AMPK is also intrinsically activated in LSC populations and is upstream of FIS1. Inhibition of AMPK signaling recapitulates the biological effect of FIS1 loss. These data suggest a model in which LSCs co-opt AMPK/FIS1-mediated mitophagy as a means to maintain stem cell properties that may be otherwise compromised by the stresses induced by oncogenic transformation. Copyright © 2018 Elsevier Inc. All rights reserved.

  9. Breeding soundness evaluations of Senepol bulls in the US Virgin Islands.

    PubMed

    Godfrey, R W; Dodson, R E

    2005-02-01

    The breeding soundness evaluation (BSE) was used to evaluate Senepol (Bos taurus) bulls (n = 495) on St. Croix over a 7-year period. Young, unproven bulls (10-26 months of age) and breeding bulls (16 months to 8.5 years) were tested prior to sale or use in breeding. Inbreeding coefficients were determined for a subset of bulls (n = 290). The percentage of bulls passing the BSE increased (P < 0.0001) with age. Bulls that passed had a higher percentage (P < 0.0001) of normal and motile sperm as well as a larger (P < 0.0001) scrotal circumference than bulls that failed. No bulls failed the BSE for physical soundness traits or other health reasons. The incidence of testicular hypoplasia was 2.5 and 3.3% and the incidence of cryptorchidism was 1.4 and 0.9% in 12- and 16-month-old bulls, respectively, with no occurrence in bulls >20 months. The proportion of all bulls that failed the BSE and received an Unsatisfactory rating for scrotal circumference or sperm motility decreased (P < 0.0001) from >90 to <25% with age. The proportion of all bulls that failed the BSE and received an Unsatisfactory rating for sperm morphology decreased (P < 0.0001) from 99 to 83.3% with age. The inbreeding coefficient was higher (P < 0.03) in bulls that failed the BSE than in those that passed (2.24 +/- 0.19% versus 1.40 +/- 0.32%, respectively). There was a tendency for bulls with testicular hypoplasia or cryptorchidism to have a higher (P = 0.09) inbreeding coefficient than bulls with normal testes (2.90 +/- 0.46% versus 2.13 +/- 0.11%, respectively). In conclusion, Senepol bulls raised under tropical conditions had a low probability of passing the BSE at young ages, but the passing rate increased with age. Older Senepol bulls were more likely to fail the BSE due to abnormal sperm morphology than due to inadequate testicular size or sperm motility. To prevent unnecessary culling, a BSE should not be performed on Senepol bulls <16 months old.

  10. Quality of life improvement in HIV-1 patients treated with raltegravir in a real-life observational study: RACING.

    PubMed

    Spire, Bruno; Nait-Ighil, Lella; Pugliese, Pascal; Poizot-Martin, Isabelle; Jullien, Vincent; Marcelin, Anne-Geneviève; Billaud, Eric

    2017-01-01

    Good efficacy and safety of raltegravir in person living with HIV was demonstrated in clinical trials over five years, but real-life data, particularly about quality of life (QoL), are lacking. QoL was evaluated over time in adult patients first treated or switched to regimens containing raltegravir in an observational cohort study. Patient QoL was evaluated using the Fatigue Impact Scale (FIS) and the HIV Symptom Index (HSI). Data were collected at baseline and at 1, 3, 6, 12, 18, and 24 months. Baseline FIS and HSI subscores were compared with the scores at each visit using the paired Wilcoxon test. The impact of time, sociodemographic and medical variables upon patient-perceived fatigue and symptoms was also assessed using mixed multivariate models. From baseline, all FIS and HSI subscores improved significantly after one month of treatment. In addition, psychosocial FIS subscores and both the frequency of bothersome symptoms and HSI subscores improved significantly at each visit. Physical FIS subscores also improved significantly, except at month 18, whereas both cognitive and total FIS subscores improved only after 6 months and 24 months, respectively. In multivariate analysis, employment was independently associated over time with improved improvement in both FIS and HSI subscores. Patient QoL improved significantly over a 24-month period of treatment with a raltegravir-containing regimen. FIS and HSI are sensitive tools to measure the impact of new antiretroviral combinations on a patient's perception of QoL.

  11. Genetic rescue in an inbred Arctic fox (Vulpes lagopus) population.

    PubMed

    Hasselgren, Malin; Angerbjörn, Anders; Eide, Nina E; Erlandsson, Rasmus; Flagstad, Øystein; Landa, Arild; Wallén, Johan; Norén, Karin

    2018-03-28

    Isolation of small populations can reduce fitness through inbreeding depression and impede population growth. Outcrossing with only a few unrelated individuals can increase demographic and genetic viability substantially, but few studies have documented such genetic rescue in natural mammal populations. We investigate the effects of immigration in a subpopulation of the endangered Scandinavian arctic fox ( Vulpes lagopus ), founded by six individuals and isolated for 9 years at an extremely small population size. Based on a long-term pedigree (105 litters, 543 individuals) combined with individual fitness traits, we found evidence for genetic rescue. Natural immigration and gene flow of three outbred males in 2010 resulted in a reduction in population average inbreeding coefficient ( f ), from 0.14 to 0.08 within 5 years. Genetic rescue was further supported by 1.9 times higher juvenile survival and 1.3 times higher breeding success in immigrant first-generation offspring compared with inbred offspring. Five years after immigration, the population had more than doubled in size and allelic richness increased by 41%. This is one of few studies that has documented genetic rescue in a natural mammal population suffering from inbreeding depression and contributes to a growing body of data demonstrating the vital connection between genetics and individual fitness. © 2018 The Author(s).

  12. Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand.

    PubMed

    Aberdein, D; Munday, J S; Dittmer, K E; Heathcott, R W; Lyons, L A

    2017-11-01

    AIMS To determine the frequency of the FAS-ligand gene (FASLG) variant associated with feline autoimmune lymphoproliferative syndrome (FALPS) and the proportion of carriers of the variant in three British shorthair (BSH) breeding catteries in New Zealand. METHODS Buccal swabs were collected from all cats in two BSH breeding catteries from the South Island and one from the North Island of New Zealand. DNA was extracted and was tested for the presence of the FASLG variant using PCR. Cats with the FASLG variant were identified and the frequency of the FASLG variant allele calculated. Pedigree analysis was performed and inbreeding coefficients were calculated for cats with the FASLG variant. RESULTS Of 32 BSH cats successfully tested for the presence of the FASLG variant, one kitten (3%) was homozygous (FALPS-affected), and seven (22%) cats were heterozygous (carriers) for the FASLG variant allele, and 24 (75%) cats were homozygous for the wild type allele. The overall frequency of the FASLG variant allele in these 32 cats was 0.14. Cats carrying the FASLG variant were from all three breeding catteries sampled, including two catteries that had not previously reported cases of FALPS. Pedigree analysis revealed common ancestry of FALPS-affected and carrier cats within six generations, as well as frequent inbreeding, with inbreeding coefficients >0.12 for five cats with the FASLG variant. CONCLUSIONS AND CLINICAL RELEVANCE There was a high frequency of the FASLG variant allele (0.14) in this small sample of BSH cats, with 22% of healthy cats identified as carriers of the FASLG variant. For an inherited disease, lethal at a young age, in a small population in which inbreeding is common, these results are significant. To prevent future cases of disease and stop further spread of the FASLG variant allele within the BSH population in New Zealand, it is recommended that all BSH and BSH-cross cats be tested for the presence of the FASLG variant before mating. Cats identified as carriers of the variant allele should be desexed and not used for breeding. Results support the need for further investigations of the true frequency of the FASLG variant allele and occurrence of FALPS in the wider population of BSH cats in New Zealand.

  13. Resolving the conundrum of inbreeding depression but no inbreeding avoidance: Estimating sex‐specific selection on inbreeding by song sparrows (Melospiza melodia)

    PubMed Central

    Reid, Jane M.; Arcese, Peter; Bocedi, Greta; Duthie, A. Bradley; Wolak, Matthew E.; Keller, Lukas F.

    2015-01-01

    Inbreeding avoidance among interacting females and males is not always observed despite inbreeding depression in offspring fitness, creating an apparent “inbreeding paradox.” This paradox could be resolved if selection against inbreeding was in fact weak, despite inbreeding depression. However, the net magnitude and direction of selection on the degree to which females and males inbreed by pairing with relatives has not been explicitly estimated. We used long‐term pedigree data to estimate phenotypic selection gradients on the degree of inbreeding that female and male song sparrows (Melospiza melodia) expressed by forming socially persistent breeding pairs with relatives. Fitness was measured as the total numbers of offspring and grand offspring contributed to the population, and as corresponding expected numbers of identical‐by‐descent allele copies, thereby accounting for variation in offspring survival, reproduction, and relatedness associated with variation in parental inbreeding. Estimated selection gradients on the degree to which individuals paired with relatives were weakly positive in females, but negative in males that formed at least one socially persistent pairing. However, males that paired had higher mean fitness than males that remained socially unpaired. These analyses suggest that net selection against inbreeding may be weak in both sexes despite strong inbreeding depression, thereby resolving the “inbreeding paradox.” PMID:26420476

  14. Efficiency of the inbreeding coefficient f and other estimators in detecting null alleles, as revealed by empirical data of locus oke3 across 65 populations of chum salmon Oncorhynchus keta

    USDA-ARS?s Scientific Manuscript database

    Polymorphic DNA markers, e.g. mini- or microsatellite (SSR) loci, are often removed from data analyses if an excess of homozygosity, presumably an indication of null alleles, is observed. However, exclusion of such loci can reduce available information if multiple loci carry null alleles. Because nu...

  15. The genome-wide structure of two economically important indigenous Sicilian cattle breeds.

    PubMed

    Mastrangelo, S; Saura, M; Tolone, M; Salces-Ortiz, J; Di Gerlando, R; Bertolini, F; Fontanesi, L; Sardina, M T; Serrano, M; Portolano, B

    2014-11-01

    Genomic technologies, such as high-throughput genotyping based on SNP arrays, provided background information concerning genome structure in domestic animals. The aim of this work was to investigate the genetic structure, the genome-wide estimates of inbreeding, coancestry, effective population size (Ne), and the patterns of linkage disequilibrium (LD) in 2 economically important Sicilian local cattle breeds, Cinisara (CIN) and Modicana (MOD), using the Illumina Bovine SNP50K v2 BeadChip. To understand the genetic relationship and to place both Sicilian breeds in a global context, genotypes from 134 other domesticated bovid breeds were used. Principal component analysis showed that the Sicilian cattle breeds were closer to individuals of Bos taurus taurus from Eurasia and formed nonoverlapping clusters with other breeds. Between the Sicilian cattle breeds, MOD was the most differentiated, whereas the animals belonging to the CIN breed showed a lower value of assignment, the presence of substructure, and genetic links with the MOD breed. The average molecular inbreeding and coancestry coefficients were moderately high, and the current estimates of Ne were low in both breeds. These values indicated a low genetic variability. Considering levels of LD between adjacent markers, the average r(2) in the MOD breed was comparable to those reported for others cattle breeds, whereas CIN showed a lower value. Therefore, these results support the need of more dense SNP arrays for a high-power association mapping and genomic selection efficiency, particularly for the CIN cattle breed. Controlling molecular inbreeding and coancestry would restrict inbreeding depression, the probability of losing beneficial rare alleles, and therefore the risk of extinction. The results generated from this study have important implications for the development of conservation and/or selection breeding programs in these 2 local cattle breeds.

  16. When does female multiple mating evolve to adjust inbreeding? Effects of inbreeding depression, direct costs, mating constraints, and polyandry as a threshold trait

    PubMed Central

    Duthie, A. Bradley; Bocedi, Greta; Reid, Jane M.

    2016-01-01

    Polyandry is often hypothesized to evolve to allow females to adjust the degree to which they inbreed. Multiple factors might affect such evolution, including inbreeding depression, direct costs, constraints on male availability, and the nature of polyandry as a threshold trait. Complex models are required to evaluate when evolution of polyandry to adjust inbreeding is predicted to arise. We used a genetically explicit individual‐based model to track the joint evolution of inbreeding strategy and polyandry defined as a polygenic threshold trait. Evolution of polyandry to avoid inbreeding only occurred given strong inbreeding depression, low direct costs, and severe restrictions on initial versus additional male availability. Evolution of polyandry to prefer inbreeding only occurred given zero inbreeding depression and direct costs, and given similarly severe restrictions on male availability. However, due to its threshold nature, phenotypic polyandry was frequently expressed even when strongly selected against and hence maladaptive. Further, the degree to which females adjusted inbreeding through polyandry was typically very small, and often reflected constraints on male availability rather than adaptive reproductive strategy. Evolution of polyandry solely to adjust inbreeding might consequently be highly restricted in nature, and such evolution cannot necessarily be directly inferred from observed magnitudes of inbreeding adjustment. PMID:27464756

  17. Volume rather than flow incentive spirometry is effective in improving chest wall expansion and abdominal displacement using optoelectronic plethysmography.

    PubMed

    Paisani, Denise de Moraes; Lunardi, Adriana Claudia; da Silva, Cibele Cristine Berto Marques; Porras, Desiderio Cano; Tanaka, Clarice; Carvalho, Celso Ricardo Fernandes

    2013-08-01

    Incentive spirometers are widely used in clinical practice and classified as flow-oriented (FIS) and volume-oriented (VIS). Until recently the respiratory inductive plethysmography used to evaluate the effects of incentive spirometry on chest wall mechanics presented limitations, which may explain why the impact of VIS and FIS remains poorly known. To compare the effects of VIS and FIS on thoracoabdominal mechanics and respiratory muscle activity in healthy volunteers. This cross-sectional trial assessed 20 subjects (12 female, ages 20-40 years, body mass index 20-30 kg/m(2)). All subjects performed 8 quiet breaths and 8 deep breaths with FIS and VIS, in a randomized order. We measured thoracoabdominal chest wall, upper and lower rib-cage, and abdominal volumes with optoelectronic plethysmography, and the muscle activity of the sternocleidomastoid and superior and inferior intercostal muscles with electromyography. VIS increased chest wall volume more than did FIS (P = .007) and induced a larger increase in the upper and lower rib-cages and abdomen (156%, 91%, and 151%, respectively, P < .001). By contrast, FIS induced more activity in the accessory muscles of respiration than did VIS (P < .001). VIS promotes a greater increase in chest wall volume, with a larger abdominal contribution and lower respiratory muscle activity, than does FIS in healthy adults.

  18. Resolving the conundrum of inbreeding depression but no inbreeding avoidance: Estimating sex-specific selection on inbreeding by song sparrows (Melospiza melodia).

    PubMed

    Reid, Jane M; Arcese, Peter; Bocedi, Greta; Duthie, A Bradley; Wolak, Matthew E; Keller, Lukas F

    2015-11-01

    Inbreeding avoidance among interacting females and males is not always observed despite inbreeding depression in offspring fitness, creating an apparent "inbreeding paradox." This paradox could be resolved if selection against inbreeding was in fact weak, despite inbreeding depression. However, the net magnitude and direction of selection on the degree to which females and males inbreed by pairing with relatives has not been explicitly estimated. We used long-term pedigree data to estimate phenotypic selection gradients on the degree of inbreeding that female and male song sparrows (Melospiza melodia) expressed by forming socially persistent breeding pairs with relatives. Fitness was measured as the total numbers of offspring and grand offspring contributed to the population, and as corresponding expected numbers of identical-by-descent allele copies, thereby accounting for variation in offspring survival, reproduction, and relatedness associated with variation in parental inbreeding. Estimated selection gradients on the degree to which individuals paired with relatives were weakly positive in females, but negative in males that formed at least one socially persistent pairing. However, males that paired had higher mean fitness than males that remained socially unpaired. These analyses suggest that net selection against inbreeding may be weak in both sexes despite strong inbreeding depression, thereby resolving the "inbreeding paradox." © 2015 The Author(s). Evolution published by Wiley Periodicals, Inc. on behalf of The Society for the Study of Evolution.

  19. Strong population structure in the marine sponge Crambe crambe (Poecilosclerida) as revealed by microsatellite markers.

    PubMed

    Duran, S; Pascual, M; Estoup, A; Turon, X

    2004-03-01

    Different categories of molecular markers have been used so far to study the population structure of sponges. However, these markers often did not have the resolution power to address precisely questions on structuring processes, especially at the intrapopulational level. In this study we show that microsatellites fulfil these expectations, allowing a fine description of population structure at different geographical scales in the marine sponge Crambe crambe. Specimens were collected in 11 locations, representing most of the Atlanto-Mediterranean range of the species, and were analysed at six loci. As expected for a sessile invertebrate with lecitotrophic larvae, high levels of between-population structure were found (FST = 0.18) and a significant isolation-by-distance pattern was observed. A strong genetic structure was also found within sampled sites (FIS = 0.21) that may be explained by several factors including inbreeding, selfing and the Wahlund effect. In spite of a sampling design planned to avoid the sampling of clones, genotypically identical individuals for the six loci were found in some locations. The significance of these potential clones is discussed and their effect on the observed pattern of population structure assessed. Patterns of allelic distribution within populations suggest the possibility of a recent colonization of the Atlantic range from the Mediterranean Sea.

  20. Self-fertilization is the main sexual reproduction mechanism in native wine yeast populations.

    PubMed

    Cubillos, Francisco A; Vásquez, Claudia; Faugeron, Sylvain; Ganga, Angélica; Martínez, Claudio

    2009-01-01

    Saccharomyces cerevisiae is a model eukaryotic organism for classical genetics and genomics, and yet its ecology is still largely unknown. In this work, a population genetic analysis was performed on five yeast populations isolated from wine-making areas with different enological practices using simple sequence repeats and restriction fragment length polymorphism of mitochondrial DNA as molecular markers on 292 strains. In accordance with other studies, genome size estimation suggests that native S. cerevisiae strains are mainly homothallic and diploids. Analysis of mtDNA data showed that yeast populations from nonindustrial areas have 40% higher genetic diversity than populations isolated from industrial areas, demonstrating that industrial enological practices are likely to affect native yeast populations negatively by reducing its biodiversity. On the other hand, genetic differentiation analysis based on their microsatellite showed no correlation between genetic and geographic distance and a nonsignificant value when a Mantel test was applied. Finally, in the five populations studied, positive inbreeding (F(is)) values from 0.4 to 0.75, a low but significant level of linkage disequilibrium and a high number of multilocus genotypes were detected. These results strongly advocate that sexual reproduction is frequent enough to erase clonal signature in natural populations and that self-fertilization is the main mating system.

  1. Mating system and ploidy influence levels of inbreeding depression in Clarkia (Onagraceae).

    PubMed

    Barringer, Brian C; Geber, Monica A

    2008-05-01

    Inbreeding depression is the reduction in offspring fitness associated with inbreeding and is thought to be one of the primary forces selecting against the evolution of self-fertilization. Studies suggest that most inbreeding depression is caused by the expression of recessive deleterious alleles in homozygotes whose frequency increases as a result of self-fertilization or mating among relatives. This process leads to the selective elimination of deleterious alleles such that highly selfing species may show remarkably little inbreeding depression. Genome duplication (polyploidy) has also been hypothesized to influence levels of inbreeding depression, with polyploids expected to exhibit less inbreeding depression than diploids. We studied levels of inbreeding depression in allotetraploid and diploid species of Clarkia (Onagraceae) that vary in mating system (each cytotype was represented by an outcrossing and a selfing species). The outcrossing species exhibited more inbreeding depression than the selfing species for most fitness components and for two different measures of cumulative fitness. In contrast, though inbreeding depression was generally lower for the polyploid species than for the diploid species, the difference was statistically significant only for flower number and one of the two measures of cumulative fitness. Further, we detected no significant interaction between mating system and ploidy in determining inbreeding depression. In sum, our results suggest that a taxon's current mating system is more important than ploidy in influencing levels of inbreeding depression in natural populations of these annual plants.

  2. When does female multiple mating evolve to adjust inbreeding? Effects of inbreeding depression, direct costs, mating constraints, and polyandry as a threshold trait.

    PubMed

    Duthie, A Bradley; Bocedi, Greta; Reid, Jane M

    2016-09-01

    Polyandry is often hypothesized to evolve to allow females to adjust the degree to which they inbreed. Multiple factors might affect such evolution, including inbreeding depression, direct costs, constraints on male availability, and the nature of polyandry as a threshold trait. Complex models are required to evaluate when evolution of polyandry to adjust inbreeding is predicted to arise. We used a genetically explicit individual-based model to track the joint evolution of inbreeding strategy and polyandry defined as a polygenic threshold trait. Evolution of polyandry to avoid inbreeding only occurred given strong inbreeding depression, low direct costs, and severe restrictions on initial versus additional male availability. Evolution of polyandry to prefer inbreeding only occurred given zero inbreeding depression and direct costs, and given similarly severe restrictions on male availability. However, due to its threshold nature, phenotypic polyandry was frequently expressed even when strongly selected against and hence maladaptive. Further, the degree to which females adjusted inbreeding through polyandry was typically very small, and often reflected constraints on male availability rather than adaptive reproductive strategy. Evolution of polyandry solely to adjust inbreeding might consequently be highly restricted in nature, and such evolution cannot necessarily be directly inferred from observed magnitudes of inbreeding adjustment. © 2016 The Author(s). Evolution published by Wiley Periodicals, Inc. on behalf of The Society for the Study of Evolution.

  3. Molecular flip–flops formed by overlapping Fis sites

    PubMed Central

    Hengen, Paul N.; Lyakhov, Ilya G.; Stewart, Lisa E.; Schneider, Thomas D.

    2003-01-01

    The DNA-binding protein Fis frequently uses pairs of sites 7 or 11 base pairs (bp) apart. Two overlapping Fis sites separated by 11 bp are found in the Escherichia coli origin of chromosomal replication. Only one of these sites is bound by Fis at a time, so the structure is a molecular flip–flop that could direct alternative firing of replication complexes in opposite directions. Alternatively, the flip–flop could represent part of an on–off switch for replication. Because they can be used to create precise switched states, molecular flip–flops could be used as the basis of a novel molecular computer. PMID:14602927

  4. Molecular flip-flops formed by overlapping Fis sites.

    PubMed

    Hengen, Paul N; Lyakhov, Ilya G; Stewart, Lisa E; Schneider, Thomas D

    2003-11-15

    The DNA-binding protein Fis frequently uses pairs of sites 7 or 11 base pairs (bp) apart. Two overlapping Fis sites separated by 11 bp are found in the Escherichia coli origin of chromosomal replication. Only one of these sites is bound by Fis at a time, so the structure is a molecular flip-flop that could direct alternative firing of replication complexes in opposite directions. Alternatively, the flip-flop could represent part of an on-off switch for replication. Because they can be used to create precise switched states, molecular flip-flops could be used as the basis of a novel molecular computer.

  5. The impact of self-incompatibility systems on the prevention of biparental inbreeding

    PubMed Central

    Furstenau, Tara N.

    2017-01-01

    Inbreeding in hermaphroditic plants can occur through two different mechanisms: biparental inbreeding, when a plant mates with a related individual, or self-fertilization, when a plant mates with itself. To avoid inbreeding, many hermaphroditic plants have evolved self-incompatibility (SI) systems which prevent or limit self-fertilization. One particular SI system—homomorphic SI—can also reduce biparental inbreeding. Homomorphic SI is found in many angiosperm species, and it is often assumed that the additional benefit of reduced biparental inbreeding may be a factor in the success of this SI system. To test this assumption, we developed a spatially-explicit, individual-based simulation of plant populations that displayed three different types of homomorphic SI. We measured the total level of inbreeding avoidance by comparing each population to a self-compatible population (NSI), and we measured biparental inbreeding avoidance by comparing to a population of self-incompatible plants that were free to mate with any other individual (PSI). Because biparental inbreeding is more common when offspring dispersal is limited, we examined the levels of biparental inbreeding over a range of dispersal distances. We also tested whether the introduction of inbreeding depression affected the level of biparental inbreeding avoidance. We found that there was a statistically significant decrease in autozygosity in each of the homomorphic SI populations compared to the PSI population and, as expected, this was more pronounced when seed and pollen dispersal was limited. However, levels of homozygosity and inbreeding depression were not reduced. At low dispersal, homomorphic SI populations also suffered reduced female fecundity and had smaller census population sizes. Overall, our simulations showed that the homomorphic SI systems had little impact on the amount of biparental inbreeding in the population especially when compared to the overall reduction in inbreeding compared to the NSI population. With further study, this observation may have important consequences for research into the origin and evolution of homomorphic self-incompatibility systems. PMID:29188143

  6. An indirect approach to the extensive calculation of relationship coefficients

    PubMed Central

    Colleau, Jean-Jacques

    2002-01-01

    A method was described for calculating population statistics on relationship coefficients without using corresponding individual data. It relied on the structure of the inverse of the numerator relationship matrix between individuals under investigation and ancestors. Computation times were observed on simulated populations and were compared to those incurred with a conventional direct approach. The indirect approach turned out to be very efficient for multiplying the relationship matrix corresponding to planned matings (full design) by any vector. Efficiency was generally still good or very good for calculating statistics on these simulated populations. An extreme implementation of the method is the calculation of inbreeding coefficients themselves. Relative performances of the indirect method were good except when many full-sibs during many generations existed in the population. PMID:12270102

  7. Assessing the impact of natural service bulls and genotype by environment interactions on genetic gain and inbreeding in organic dairy cattle genomic breeding programs.

    PubMed

    Yin, T; Wensch-Dorendorf, M; Simianer, H; Swalve, H H; König, S

    2014-06-01

    The objective of the present study was to compare genetic gain and inbreeding coefficients of dairy cattle in organic breeding program designs by applying stochastic simulations. Evaluated breeding strategies were: (i) selecting bulls from conventional breeding programs, and taking into account genotype by environment (G×E) interactions, (ii) selecting genotyped bulls within the organic environment for artificial insemination (AI) programs and (iii) selecting genotyped natural service bulls within organic herds. The simulated conventional population comprised 148 800 cows from 2976 herds with an average herd size of 50 cows per herd, and 1200 cows were assigned to 60 organic herds. In a young bull program, selection criteria of young bulls in both production systems (conventional and organic) were either 'conventional' estimated breeding values (EBV) or genomic estimated breeding values (GEBV) for two traits with low (h 2=0.05) and moderate heritability (h 2=0.30). GEBV were calculated for different accuracies (r mg), and G×E interactions were considered by modifying originally simulated true breeding values in the range from r g=0.5 to 1.0. For both traits (h 2=0.05 and 0.30) and r mg⩾0.8, genomic selection of bulls directly in the organic population and using selected bulls via AI revealed higher genetic gain than selecting young bulls in the larger conventional population based on EBV; also without the existence of G×E interactions. Only for pronounced G×E interactions (r g=0.5), and for highly accurate GEBV for natural service bulls (r mg>0.9), results suggests the use of genotyped organic natural service bulls instead of implementing an AI program. Inbreeding coefficients of selected bulls and their offspring were generally lower when basing selection decisions for young bulls on GEBV compared with selection strategies based on pedigree indices.

  8. Feed‐backs among inbreeding, inbreeding depression in sperm traits, and sperm competition can drive evolution of costly polyandry

    PubMed Central

    Bocedi, Greta; Reid, Jane M.

    2017-01-01

    Abstract Ongoing ambitions are to understand the evolution of costly polyandry and its consequences for species ecology and evolution. Emerging patterns could stem from feed‐back dynamics between the evolving mating system and its genetic environment, defined by interactions among kin including inbreeding. However, such feed‐backs are rarely considered in nonselfing systems. We use a genetically explicit model to demonstrate a mechanism by which inbreeding depression can select for polyandry to mitigate the negative consequences of mating with inbred males, rather than to avoid inbreeding, and to elucidate underlying feed‐backs. Specifically, given inbreeding depression in sperm traits, costly polyandry evolved to ensure female fertility, without requiring explicit inbreeding avoidance. Resulting sperm competition caused evolution of sperm traits and further mitigated the negative effect of inbreeding depression on female fertility. The evolving mating system fed back to decrease population‐wide homozygosity, and hence inbreeding. However, the net overall decrease was small due to compound effects on the variances in sex‐specific reproductive success and paternity skew. Purging of deleterious mutations did not eliminate inbreeding depression in sperm traits or hence selection for polyandry. Overall, our model illustrates that polyandry evolution, both directly and through sperm competition, might facilitate evolutionary rescue for populations experiencing sudden increases in inbreeding. PMID:28895138

  9. Genetic-molecular characterization of backcross generations for sexual conversion in papaya (Carica papaya L.).

    PubMed

    Ramos, H C C; Pereira, M G; Pereira, T N S; Barros, G B A; Ferreguetti, G A

    2014-12-04

    The low number of improved cultivars limits the expansion of the papaya crop, particularly because of the time required for the development of new varieties using classical procedures. Molecular techniques associated with conventional procedures accelerate this process and allow targeted improvements. Thus, we used microsatellite markers to perform genetic-molecular characterization of papaya genotypes obtained from 3 backcross generations to monitor the inbreeding level and parental genome proportion in the evaluated genotypes. Based on the analysis of 20 microsatellite loci, 77 genotypes were evaluated, 25 of each generation of the backcross program as well as the parental genotypes. The markers analyzed were identified in 11 of the 12 linkage groups established for papaya, ranging from 1 to 4 per linkage group. The average values for the inbreeding coefficient were 0.88 (BC1S4), 0.47 (BC2S3), and 0.63 (BC3S2). Genomic analysis revealed average values of the recurrent parent genome of 82.7% in BC3S2, 64.4% in BC1S4, and 63.9% in BC2S3. Neither the inbreeding level nor the genomic proportions completely followed the expected average values. This demonstrates the significance of molecular analysis when examining different genotype values, given the importance of such information for selection processes in breeding programs.

  10. An ANFIS-based on B2C electronic commerce transaction

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Lin, Juan, E-mail: linjuanliucaihong@qq.com; Liu, Chenlian, E-mail: chenglian.liu@gmail.com; Guo, Yongning, E-mail: guoyn@163.com

    2014-10-06

    The purpose of this study is to use an adaptive-network-based fuzzy inference system to model a fuzzy logic-based system (FIS) for supporting decision-making process in B2C electronic commerce transaction. Firstly we introduce FIS in B2C electronic commerce transaction and ANFIS. Then we use ANFIS to model FIS with different membership functions(MF). Lastly we give a conclusion.

  11. An ANFIS-based on B2C electronic commerce transaction

    NASA Astrophysics Data System (ADS)

    Lin, Juan; Liu, Chenlian; Guo, Yongning

    2014-10-01

    The purpose of this study is to use an adaptive-network-based fuzzy inference system to model a fuzzy logic-based system (FIS) for supporting decision-making process in B2C electronic commerce transaction. Firstly we introduce FIS in B2C electronic commerce transaction and ANFIS. Then we use ANFIS to model FIS with different membership functions(MF). Lastly we give a conclusion.

  12. Feed-backs among inbreeding, inbreeding depression in sperm traits, and sperm competition can drive evolution of costly polyandry.

    PubMed

    Bocedi, Greta; Reid, Jane M

    2017-12-01

    Ongoing ambitions are to understand the evolution of costly polyandry and its consequences for species ecology and evolution. Emerging patterns could stem from feed-back dynamics between the evolving mating system and its genetic environment, defined by interactions among kin including inbreeding. However, such feed-backs are rarely considered in nonselfing systems. We use a genetically explicit model to demonstrate a mechanism by which inbreeding depression can select for polyandry to mitigate the negative consequences of mating with inbred males, rather than to avoid inbreeding, and to elucidate underlying feed-backs. Specifically, given inbreeding depression in sperm traits, costly polyandry evolved to ensure female fertility, without requiring explicit inbreeding avoidance. Resulting sperm competition caused evolution of sperm traits and further mitigated the negative effect of inbreeding depression on female fertility. The evolving mating system fed back to decrease population-wide homozygosity, and hence inbreeding. However, the net overall decrease was small due to compound effects on the variances in sex-specific reproductive success and paternity skew. Purging of deleterious mutations did not eliminate inbreeding depression in sperm traits or hence selection for polyandry. Overall, our model illustrates that polyandry evolution, both directly and through sperm competition, might facilitate evolutionary rescue for populations experiencing sudden increases in inbreeding. © 2017 The Author(s). Evolution © 2017 The Society for the Study of Evolution.

  13. Fis protein induced λF-DNA bending observed by single-pair fluorescence resonance energy transfer

    NASA Astrophysics Data System (ADS)

    Chi-Cheng, Fu; Wunshain, Fann; Yuan Hanna, S.

    2006-03-01

    Fis, a site-specific DNA binding protein, regulates many biological processes including recombination, transcription, and replication in E.coli. Fis induced DNA bending plays an important role in regulating these functions and bending angle range from ˜50 to 95 dependent on the DNA sequence. For instance, the average bending angle of λF-DNA (26 bp, 8.8nm long, contained λF binding site on the center) measured by gel mobility shift assays was ˜ 94 . But the traditional method cannot provide information about the dynamics and the angle distribution. In this study, λF-DNA was labeled with donor (Alexa Fluor 546) and acceptor (Alexa Fluor 647) dyes on its two 5' ends and the donor-acceptor distances were measured using single-pair fluorescence resonance energy transfer (sp-FRET) with and without the present of Fis protein. Combing with structure information of Fis-DNA complex, the sp-FRET results are used to estimate the protein induced DNA bending angle distribution and dynamics.

  14. Interactive effects of environmental stress and inbreeding on reproductive traits in a wild bird population.

    PubMed

    Marr, A B; Arcese, P; Hochachka, W M; Reid, J M; Keller, L F

    2006-11-01

    1. Conservation biologists are concerned about the interactive effects of environmental stress and inbreeding because such interactions could affect the dynamics and extinction risk of small and isolated populations, but few studies have tested for these interactions in nature. 2. We used data from the long-term population study of song sparrows Melospiza melodia on Mandarte Island to examine the joint effects of inbreeding and environmental stress on four fitness traits that are known to be affected by the inbreeding level of adult birds: hatching success, laying date, male mating success and fledgling survival. 3. We found that inbreeding depression interacted with environmental stress to reduce hatching success in the nests of inbred females during periods of rain. 4. For laying date, we found equivocal support for an interaction between parental inbreeding and environmental stress. In this case, however, inbred females experienced less inbreeding depression in more stressful, cooler years. 5. For two other traits, we found no evidence that the strength of inbreeding depression varied with environmental stress. First, mated males fathered fewer nests per season if inbred or if the ratio of males to females in the population was high, but inbreeding depression did not depend on sex ratio. Second, fledglings survived poorly during rainy periods and if their father was inbred, but the effects of paternal inbreeding and rain did not interact. 6. Thus, even for a single species, interactions between the inbreeding level and environmental stress may not occur in all traits affected by inbreeding depression, and interactions that do occur will not always act synergistically to further decrease fitness.

  15. Variability of individual genetic load: consequences for the detection of inbreeding depression.

    PubMed

    Restoux, Gwendal; Huot de Longchamp, Priscille; Fady, Bruno; Klein, Etienne K

    2012-03-01

    Inbreeding depression is a key factor affecting the persistence of natural populations, particularly when they are fragmented. In species with mixed mating systems, inbreeding depression can be estimated at the population level by regressing the average progeny fitness by the selfing rate of their mothers. We applied this method using simulated populations to investigate how population genetic parameters can affect the detection power of inbreeding depression. We simulated individual selfing rates and genetic loads from which we computed fitness values. The regression method yielded high statistical power, inbreeding depression being detected as significant (5 % level) in 92 % of the simulations. High individual variation in selfing rate and high mean genetic load led to better detection of inbreeding depression while high among-individual variation in genetic load made it more difficult to detect inbreeding depression. For a constant sampling effort, increasing the number of progenies while decreasing the number of individuals per progeny enhanced the detection power of inbreeding depression. We discuss the implication of among-mother variability of genetic load and selfing rate on inbreeding depression studies.

  16. Effect of volume-oriented versus flow-oriented incentive spirometry on chest wall volumes, inspiratory muscle activity, and thoracoabdominal synchrony in the elderly.

    PubMed

    Lunardi, Adriana C; Porras, Desiderio C; Barbosa, Renata Cc; Paisani, Denise M; Marques da Silva, Cibele C B; Tanaka, Clarice; Carvalho, Celso R F

    2014-03-01

    Aging causes physiological and functional changes that impair pulmonary function. Incentive spirometry is widely used for lung expansion, but the effects of volume-oriented incentive spirometry (VIS) versus flow-oriented incentive spirometry (FIS) on chest wall volumes, inspiratory muscle activity, and thoracoabdominal synchrony in the elderly are poorly understood. We compared VIS and FIS in elderly subjects and healthy adult subjects. Sixteen elderly subjects (9 women, mean ± SD age 70.6 ± 3.9 y, mean ± SD body mass index 23.8 ± 2.5 kg/m(2)) and 16 healthy adults (8 women, mean ± age 25.9 ± 4.3 y, mean ± body mass index 23.6 ± 2.4 kg/m(2)) performed quiet breathing, VIS, and FIS in randomized sequence. Chest wall kinematics (via optoelectronic plethysmography) and inspiratory muscle activity (via surface electromyography) were assessed simultaneously. Synchrony between the superior thorax and abdominal motion was calculated (phase angle). In the elderly subjects both types of incentive spirometry increased chest wall volumes similarly, whereas in the healthy adult subjects VIS increased the chest wall volume more than did FIS. FIS and VIS triggered similar lower thoracoabdominal synchrony in the elderly subjects, whereas in the healthy adults FIS induced lower synchrony than did VIS. FIS required more muscle activity in the elderly subjects to create an increase in chest wall volume. Incentive spirometry performance is influenced by age, and the differences between elderly and healthy adults response should be considered in clinical practice.

  17. Perception of chemesthetic stimuli in groups who differ by food involvement and culinary experience.

    PubMed

    Byrnes, Nadia; Loss, Christopher R; Hayes, John E

    2015-12-01

    In the English language, there is generally a limited lexicon when referring to the sensations elicited by chemesthetic stimuli like capsaicin, allyl isothiocyanate, and eugenol, the orally irritating compounds found in chiles, wasabi, and cloves, respectively. Elsewhere, experts and novices have been shown to use language differently, with experts using more precise language. Here, we compare perceptual maps and word usage across three cohorts: experts with formal culinary education, naïve individuals with high Food Involvement Scale (FIS) scores, and naïve individuals with low FIS scores. We hypothesized that increased experience with foods, whether through informal experiential learning or formal culinary education, would have a significant influence on the perceptual maps generated from a sorting task conducted with chemesthetic stimuli, as well as on language use in a descriptive follow-up task to this sorting task. The low- and highFIS non-expert cohorts generated significantly similar maps, though in other respects the highFIS cohort was an intermediate between the lowFIS and expert cohorts. The highFIS and expert cohorts generated more attributes but used language more idiosyncratically than the lowFIS group. Overall, the results from the expert group with formal culinary education differed from the two naïve cohorts both in the perceptual map generated using MDS as well as the mean number of attributes generated. Present data suggest that both formal education and informal experiential learning result in lexical development, but the level and type of learning can have a significant influence on language use and the approach to a sorting task.

  18. Perception of chemesthetic stimuli in groups who differ by food involvement and culinary experience

    PubMed Central

    Byrnes, Nadia; Loss, Christopher R.; Hayes, John E.

    2015-01-01

    In the English language, there is generally a limited lexicon when referring to the sensations elicited by chemesthetic stimuli like capsaicin, allyl isothiocyanate, and eugenol, the orally irritating compounds found in chiles, wasabi, and cloves, respectively. Elsewhere, experts and novices have been shown to use language differently, with experts using more precise language. Here, we compare perceptual maps and word usage across three cohorts: experts with formal culinary education, naïve individuals with high Food Involvement Scale (FIS) scores, and naïve individuals with low FIS scores. We hypothesized that increased experience with foods, whether through informal experiential learning or formal culinary education, would have a significant influence on the perceptual maps generated from a sorting task conducted with chemesthetic stimuli, as well as on language use in a descriptive follow-up task to this sorting task. The low- and highFIS non-expert cohorts generated significantly similar maps, though in other respects the highFIS cohort was an intermediate between the lowFIS and expert cohorts. The highFIS and expert cohorts generated more attributes but used language more idiosyncratically than the lowFIS group. Overall, the results from the expert group with formal culinary education differed from the two naïve cohorts both in the perceptual map generated using MDS as well as the mean number of attributes generated. Present data suggest that both formal education and informal experiential learning result in lexical development, but the level and type of learning can have a significant influence on language use and the approach to a sorting task. PMID:26516297

  19. [Analysis of evaluation process of research projects submitted to the Fondo de Investigación Sanitaria, Spain].

    PubMed

    Prieto Carles, C; Gómez-Gerique, J; Gutiérrez Millet, V; Veiga de Cabo, J; Sanz Martul, E; Mendoza Hernández, J L

    2000-10-07

    At the present time it seems very clear that research improvement is both an unquestionable fact and the right way to develop technological innovation, services and patents. However, such improvement and corresponding finances needs to be done under fine and rigorous evaluation process as an assessment tool under which all the research projects applying to a public or private call for proposals should be submitted to assure a coherence point according to the investment to be made. At this end, the main target of this work has been focused to analysis and study the evaluation process traditionally made by Fondo de Investigación Sanitaria (FIS) as well as to propose most adequate modifications. A sample of 431 research projects corresponding to year 1998 proposal was analysed. The evaluation from FIS and ANEP (National Evaluation and Prospective Agency) was evaluated and scored (evaluation quality) in its main contents by 3 independent evaluators, the showed results submitted to a comparative frame between these agencies at indoor (FIS) and outdoor (FIS/ANEP) level. FIS evaluation had 20 commissions or areas of knowledge. The analysis indoor (FIS) clearly showed that evaluation quality was correlated to the assigned commission (F = 3.71; p < 0.001) and to the time last of the researched proposal (F = 3.42; p < 0.05) but no related to the evaluator. On the other hand, the quality of ANEP evaluation showed a correlated dependency of the three mentioned facts. In all terms, the ANEP evaluation was better than FIS for the three years time projects, but in did not show significant differences in one or two years time projects. In all cases, the evaluation with final results as negative (financing denied) showed an average quality higher than positive evaluation. The obtained results advice about the convenience of making some changes in the evaluative structure and to review the sort of FIS technical commissions focusing an improvement of the evaluation process.

  20. Genetic Diversity of the Endangered Neotropical Cichlid Fish (Gymnogeophagus setequedas) in Brazil

    PubMed Central

    Souza-Shibatta, Lenice; Kotelok-Diniz, Thais; Ferreira, Dhiego G.; Shibatta, Oscar A.; Sofia, Silvia H.; de Assumpção, Lucileine; Pini, Suelen F. R.; Makrakis, Sergio; Makrakis, Maristela C.

    2018-01-01

    Gymnogeophagus setequedas is a rare and rheophilic species of tribe Geophagini, considered endangered in Brazilian red lists. Its previously known geographical distribution range was the Paraná River basin, in Paraguay, and a tributary of the Itaipu Reservoir in Brazil. Since its description no specimens have been collected in the original known distribution area. However, recent records of G. setequedas in the lower Iguaçu River, in a region considered highly endemic for the ichthyofauna, extended the known geographical distribution and may represent one of the last remnants of the species. The aim of this study was to estimate the genetic diversity and population structure of G. setequedas, using microsatellite markers and mitochondrial haplotypes, in order to test the hypothesis of low genetic diversity in this restricted population. Muscular tissue samples of 86 specimens were obtained from nine locations in the Lower Iguaçu River basin, between upstream of the Iguaçu Falls and downstream of the Salto Caxias Reservoir. Seven microsatellites loci were examined and a total of 120 different alleles were obtained. The number of alleles per locus (NA) was 17.429, effective alleles (NE) 6.644, expected heterozygosity (HE) 0.675, observed (HO) heterozygosity 0.592, and inbreeding coefficient (FIS) 0.128. Twelve haplotypes in the D-Loop region were revealed, with values of h (0.7642) and π (0.00729), suggesting a large and stable population with a long evolutionary history. Thus, both molecular markers revealed high levels of genetic diversity and indicated the occurrence of a single G. setequedas population distributed along a stretch of approximately 200 km. The pattern of mismatch distribution was multimodal, which is usually ascribed to populations in demographic equilibrium. Nevertheless, the construction of a new hydroelectric power plant, already underway between the Salto Caxias Reservoir and Iguaçu Falls, could fragment this population, causing loss of genetic diversity and population decline, and for this reason it is necessary to maintain the Iguaçu River tributaries and downstream area from the Lower Iguaçu Reservoir free of additional dams, to guarantee the survival of this species. PMID:29456551

  1. CONSANGUINEOUS MARRIAGES AMONG IRANIAN MANDAEANS LIVING IN SOUTH-WEST IRAN.

    PubMed

    Saadat, Mostafa; Zarghami, Mahdis

    2018-07-01

    SummarySeveral studies have indicated that consanguineous marriages (unions between biologically related persons) are associated with increased risk of autosomal recessive diseases and several multifactorial traits. Mandaeans are a closed ethno-religious community living in areas of southern Iraq and Iran (Khuzestan Province). There are currently no data on the prevalence of consanguineous marriages among Mandaeans. The present study was carried out in 2016 to determine the prevalence of consanguinity among Iranian Mandaeans living in Khuzestan Province, south-west Iran. A total of 137 couples (urban areas: 79 couples; rural areas: 58 couples) were included in the study. Information on the consanguineous marriages of the subjects was collected through direct interviews. Marriages were classified by the degree of relationship between couples as double first cousins, first cousins, first cousin once removed, second cousins and unrelated marriages. The coefficient of inbreeding (F) was calculated for each couple and the mean coefficient of inbreeding (α) estimated for the population, stratified by rural and urban areas. The overall frequency of consanguinity was found to be 50.7% in urban and 86.2% in rural areas. There was a significant difference between rural and urban areas in types of marriages (χ 2=24.8, df=4, p<0.001) and first cousin marriages (51.8%) were the most common type. The overall α-value was estimated to be 0.0363 for the Iranian Mandaean population.

  2. Socioeconomic, demographic, and geographic variables affecting the diverse degrees of consanguineous marriages in Spain.

    PubMed

    Fuster, V; Colantonio, S E

    2004-02-01

    In a population the inbreeding coefficient alpha is determined by the relative incidence of the various degrees of consanguineous marriages--uncle-niece or aunt-nephew (C12), first cousin (C22), first cousin once removed (C23), second cousin (C33)--which may be related to temporal, geographic, demographic, and economic factors. Using published information from Spain corresponding to urban and rural areas, in this article we seek to establish how each specific relationship behaves with respect to geographic, demographic, and socioeconomic factors, to determine differential urban-rural patterns, and to study whether the diverse types of consanguineous matings relate homogeneously to these factors. For this purpose we performed multiple regressions in which the dependent variables were the different degrees of consanguinity previously selected and the independent variables were geographic, demographic, and economic factors. Our results indicate that the various types of consanguineous marriages in Spain are more conditioned by geographic, demographic, and economic variables than by the inbreeding level alpha (the coefficient of determination was between 0.22 and 0.72; the maximum for alpha was 0.35). A regional pattern exists in Spain and corresponds to close and to remote kinship, which may be mainly related to economic and family factors. Close relationships appear to be more associated with economic variables, whereas second-cousin marriages correspond largely to rural areas of the Spanish Central Plateau.

  3. Inhibiting Mitophagy as a Novel Mechanism to Kill Prostate Cancer Cells

    DTIC Science & Technology

    2014-10-01

    cells. Key mediators of the mitophagic process, specifically Parkin , dynamin- related protein-1 (Drp1), fission-1 (Fis1), and cyclophilin-D (CypD...production and was protective against chemotherapeutic-induced cell death. In contrast, Fis1 and Parkin knockdown was sufficient to sensitize LNCaP...targeting of Fis1 and Parkin may have therapeutic value as they both sensitized prostate cancer cells to the necrotic effects of doxorubicin. Finally

  4. Estimating Seven Coefficients of Pairwise Relatedness Using Population-Genomic Data

    PubMed Central

    Ackerman, Matthew S.; Johri, Parul; Spitze, Ken; Xu, Sen; Doak, Thomas G.; Young, Kimberly; Lynch, Michael

    2017-01-01

    Population structure can be described by genotypic-correlation coefficients between groups of individuals, the most basic of which are the pairwise relatedness coefficients between any two individuals. There are nine pairwise relatedness coefficients in the most general model, and we show that these can be reduced to seven coefficients for biallelic loci. Although all nine coefficients can be estimated from pedigrees, six coefficients have been beyond empirical reach. We provide a numerical optimization procedure that estimates all seven reduced coefficients from population-genomic data. Simulations show that the procedure is nearly unbiased, even at 3× coverage, and errors in five of the seven coefficients are statistically uncorrelated. The remaining two coefficients have a negative correlation of errors, but their sum provides an unbiased assessment of the overall correlation of heterozygosity between two individuals. Application of these new methods to four populations of the freshwater crustacean Daphnia pulex reveal the occurrence of half siblings in our samples, as well as a number of identical individuals that are likely obligately asexual clone mates. Statistically significant negative estimates of these pairwise relatedness coefficients, including inbreeding coefficients that were typically negative, underscore the difficulties that arise when interpreting genotypic correlations as estimations of the probability that alleles are identical by descent. PMID:28341647

  5. Interactive effects of inbreeding and endocrine disruption on reproduction in a model laboratory fish.

    PubMed

    Bickley, Lisa K; Brown, Andrew R; Hosken, David J; Hamilton, Patrick B; Le Page, Gareth; Paull, Gregory C; Owen, Stewart F; Tyler, Charles R

    2013-02-01

    Inbreeding depression is expected to be more severe in stressful environments. However, the extent to which inbreeding affects the vulnerability of populations to environmental stressors, such as chemical exposure, remains unresolved. Here we report on the combined impacts of inbreeding and exposure to an endocrine disrupting chemical (the fungicide clotrimazole) on zebrafish (Danio rerio). We show that whilst inbreeding can negatively affect reproductive traits, not all traits are affected equally. Inbreeding depression frequently only became apparent when fish were additionally stressed by chemical exposure. Embryo viability was significantly reduced in inbred exposed fish and there was a tendency for inbred males to sire fewer offspring when in direct competition with outbred individuals. Levels of plasma 11-ketotestosterone, a key male sex hormone, showed substantial inbreeding depression that was unaffected by addition of the fungicide. In contrast, there was no effect of inbreeding or clotrimazole exposure on egg production. Overall, our data provide evidence that stress may amplify the effects of inbreeding on key reproductive traits, particularly those associated with male fitness. This may have important implications when considering the consequences of exposure to chemical pollutants on the fitness of wild populations.

  6. Interactive effects of inbreeding and endocrine disruption on reproduction in a model laboratory fish

    PubMed Central

    Bickley, Lisa K; Brown, Andrew R; Hosken, David J; Hamilton, Patrick B; Le Page, Gareth; Paull, Gregory C; Owen, Stewart F; Tyler, Charles R

    2013-01-01

    Inbreeding depression is expected to be more severe in stressful environments. However, the extent to which inbreeding affects the vulnerability of populations to environmental stressors, such as chemical exposure, remains unresolved. Here we report on the combined impacts of inbreeding and exposure to an endocrine disrupting chemical (the fungicide clotrimazole) on zebrafish (Danio rerio). We show that whilst inbreeding can negatively affect reproductive traits, not all traits are affected equally. Inbreeding depression frequently only became apparent when fish were additionally stressed by chemical exposure. Embryo viability was significantly reduced in inbred exposed fish and there was a tendency for inbred males to sire fewer offspring when in direct competition with outbred individuals. Levels of plasma 11-ketotestosterone, a key male sex hormone, showed substantial inbreeding depression that was unaffected by addition of the fungicide. In contrast, there was no effect of inbreeding or clotrimazole exposure on egg production. Overall, our data provide evidence that stress may amplify the effects of inbreeding on key reproductive traits, particularly those associated with male fitness. This may have important implications when considering the consequences of exposure to chemical pollutants on the fitness of wild populations. PMID:23798977

  7. Assessment of inbreeding depression in Nellore cows (Bos indicus) through high-density SNP genotypes

    USDA-ARS?s Scientific Manuscript database

    Inbreeding has been incriminated as a cause of decrease in reproductive performance in cattle. This negative correlation is known as ‘inbreeding depression’, and evidence supporting this hypothesis was generated from association studies between reproductive traits and estimates of inbreeding coeffic...

  8. The responses of subjective feeling, task performance ability, cortisol and HRV for the various types of floor impact sound: a pilot study.

    PubMed

    Yun, Seok Hyeon; Park, Sang Jin; Sim, Chang Sun; Sung, Joo Hyun; Kim, Ahra; Lee, Jang Myeong; Lee, Sang Hyun; Lee, Jiho

    2017-01-01

    Recently, noise coming from the neighborhood via floor wall has become a great social problem. The noise between the floors can be a cause of physical and psychological problems, and the different types of floor impact sound (FIS) may have the different effects on the human's body and mind. The purpose of this study is to assess the responses of subjective feeling, task performance ability, cortisol and HRV for the various types of floor impact. Ten men and 5 women were enrolled in our study, and the English listening test was performed under the twelve different types of FIS, which were made by the combinations of bang machine (B), tapping machine (T), impact ball (I) and sound-proof mattress (M). The 15 subjects were exposed to each FIS for about 3 min, and the subjective annoyance, performance ability (English listening test), cortisol level of urine/saliva and heart rate variability (HRV) were examined. The sound pressure level (SPL) and frequency of FIS were analyzed. Repeated-measures ANOVA, paired t-test, Wilcoxon signed rank test were performed for data analysis. The SPL of tapping machine (T) was reduced with the soundproof mattress (M) by 3.9-7.3 dBA. Impact ball (I) was higher than other FIS in low frequency (31.5-125 Hz) by 10 dBA, and tapping machine (T) was higher than other FIS in high frequency (2-4 k Hz) by 10 dBA. The subjective annoyance is highest in the combination of bang machine and tapping machine (BT), and next in the tapping machine (T). The English listening score was also lowest in the BT, and next in T. The difference of salivary cortisol levels between various types of FIS was significant ( p  = 0.003). The change of HRV parameters by the change of FIS types was significant in some parameters, which were total power (TP) ( p  = 0.004), low frequency (LF) ( p  = 0.002) and high frequency (HF) ( p  = 0.011). These results suggest that the human's subjective and objective responses were different according to FIS types and those combinations.

  9. Incestuous sisters: mate preference for brothers over unrelated males in Drosophila melanogaster.

    PubMed

    Loyau, Adeline; Cornuau, Jérémie H; Clobert, Jean; Danchin, Etienne

    2012-01-01

    The literature is full of examples of inbreeding avoidance, while recent mathematical models predict that inbreeding tolerance or even inbreeding preference should be expected under several realistic conditions like e.g. polygyny. We investigated male and female mate preferences with respect to relatedness in the fruit fly D. melanogaster. Experiments offered the choice between a first order relative (full-sibling or parent) and an unrelated individual with the same age and mating history. We found that females significantly preferred mating with their brothers, thus supporting inbreeding preference. Moreover, females did not avoid mating with their fathers, and males did not avoid mating with their sisters, thus supporting inbreeding tolerance. Our experiments therefore add empirical evidence for inbreeding preference, which strengthens the prediction that inbreeding tolerance and preference can evolve under specific circumstances through the positive effects on inclusive fitness.

  10. Does Haplodiploidy Purge Inbreeding Depression in Rotifer Populations?

    PubMed Central

    Tortajada, Ana M.; Carmona, María José; Serra, Manuel

    2009-01-01

    Background Inbreeding depression is an important evolutionary factor, particularly when new habitats are colonized by few individuals. Then, inbreeding depression by drift could favour the establishment of later immigrants because their hybrid offspring would enjoy higher fitness. Rotifers are the only major zooplanktonic group where information on inbreeding depression is still critically scarce, despite the fact that in cyclical parthenogenetic rotifers males are haploid and could purge deleterious recessive alleles, thereby decreasing inbreeding depression. Methodology/Principal Findings We studied the effects of inbreeding in two populations of the cyclical parthenogenetic rotifer Brachionus plicatilis. For each population, we compared both the parental fertilization proportion and F1 fitness components from intraclonal (selfed) and interclonal (outcrossed) crosses. The parental fertilization proportion was similar for both types of crosses, suggesting that there is no mechanism to avoid selfing. In the F1 generation of both populations, we found evidence of inbreeding depression for the fitness components associated with asexual reproduction; whereas inbreeding depression was only found for one of the two sexual reproduction fitness components measured. Conclusions/Significance Our results show that rotifers, like other major zooplanktonic groups, can be affected by inbreeding depression in different stages of their life cycle. These results suggest that haplodiploidy does not purge efficiently deleterious recessive alleles. The inbreeding depression detected here has important implications when a rotifer population is founded and intraclonal crossing is likely to occur. Thus, during the foundation of new populations inbreeding depression may provide opportunities for new immigrants, increasing gene flow between populations, and affecting genetic differentiation. PMID:19997616

  11. The Environmental Dependence of Inbreeding Depression in a Wild Bird Population

    PubMed Central

    Szulkin, Marta; Sheldon, Ben C.

    2007-01-01

    Background Inbreeding depression occurs when the offspring produced as a result of matings between relatives show reduced fitness, and is generally understood as a consequence of the elevated expression of deleterious recessive alleles. How inbreeding depression varies across environments is of importance for the evolution of inbreeding avoidance behaviour, and for understanding extinction risks in small populations. However, inbreeding-by-environment (I×E) interactions have rarely been investigated in wild populations. Methodology/Principal Findings We analysed 41 years of breeding events from a wild great tit (Parus major) population and used 11 measures of the environment to categorise environments as relatively good or poor, testing whether these measures influenced inbreeding depression. Although inbreeding always, and environmental quality often, significantly affected reproductive success, there was little evidence for statistically significant I×E interactions at the level of individual analyses. However, point estimates of the effect of the environment on inbreeding depression were sometimes considerable, and we show that variation in the magnitude of the I×E interaction across environments is consistent with the expectation that this interaction is more marked across environmental axes with a closer link to overall fitness, with the environmental dependence of inbreeding depression being elevated under such conditions. Hence, our analyses provide evidence for an environmental dependence of the inbreeding×environment interaction: effectively an I×E×E. Conclusions/Significance Overall, our analyses suggest that I×E interactions may be substantial in wild populations, when measured across relevant environmental contrasts, although their detection for single traits may require very large samples, or high rates of inbreeding. PMID:17925875

  12. Estimating inbreeding rates in natural populations: addressing the problem of incomplete pedigrees

    Treesearch

    Mark P. Miller; Susan M. Haig; Jonathan D. Ballou; Ashley Steel

    2017-01-01

    Understanding and estimating inbreeding is essential for managing threatened and endangered wildlife populations. However, determination of inbreeding rates in natural populations is confounded by incomplete parentage information. We present an approach for quantifying inbreeding rates for populations with incomplete parentage information. The approach exploits...

  13. Academic Inbreeding in the Portuguese Academia

    ERIC Educational Resources Information Center

    Tavares, Orlanda; Cardoso, Sónia; Carvalho, Teresa; Sousa, Sofia Branco; Santiago, Rui

    2015-01-01

    This paper analyses the inbreeding phenomena in Portuguese public universities. Inbreeding is defined as the recruitment of academics by the same institution that awarded their PhDs. Focusing on 1,217 PhD-holding Portuguese academics, belonging to four public universities and to six disciplinary areas, inbreeding is analysed in order to understand…

  14. Evidence for frequent incest in a cooperatively breeding mammal.

    PubMed

    Nichols, H J; Cant, M A; Hoffman, J I; Sanderson, J L

    2014-12-01

    As breeding between relatives often results in inbreeding depression, inbreeding avoidance is widespread in the animal kingdom. However, inbreeding avoidance may entail fitness costs. For example, dispersal away from relatives may reduce survival. How these conflicting selection pressures are resolved is challenging to investigate, but theoretical models predict that inbreeding should occur frequently in some systems. Despite this, few studies have found evidence of regular incest in mammals, even in social species where relatives are spatio-temporally clustered and opportunities for inbreeding frequently arise. We used genetic parentage assignments together with relatedness data to quantify inbreeding rates in a wild population of banded mongooses, a cooperatively breeding carnivore. We show that females regularly conceive to close relatives, including fathers and brothers. We suggest that the costs of inbreeding avoidance may sometimes outweigh the benefits, even in cooperatively breeding species where strong within-group incest avoidance is considered to be the norm.

  15. Evidence for frequent incest in a cooperatively breeding mammal

    PubMed Central

    Nichols, H. J.; Cant, M. A.; Hoffman, J. I.; Sanderson, J. L.

    2014-01-01

    As breeding between relatives often results in inbreeding depression, inbreeding avoidance is widespread in the animal kingdom. However, inbreeding avoidance may entail fitness costs. For example, dispersal away from relatives may reduce survival. How these conflicting selection pressures are resolved is challenging to investigate, but theoretical models predict that inbreeding should occur frequently in some systems. Despite this, few studies have found evidence of regular incest in mammals, even in social species where relatives are spatio-temporally clustered and opportunities for inbreeding frequently arise. We used genetic parentage assignments together with relatedness data to quantify inbreeding rates in a wild population of banded mongooses, a cooperatively breeding carnivore. We show that females regularly conceive to close relatives, including fathers and brothers. We suggest that the costs of inbreeding avoidance may sometimes outweigh the benefits, even in cooperatively breeding species where strong within-group incest avoidance is considered to be the norm. PMID:25540153

  16. Incestuous Sisters: Mate Preference for Brothers over Unrelated Males in Drosophila melanogaster

    PubMed Central

    Loyau, Adeline; Cornuau, Jérémie H.; Clobert, Jean; Danchin, Étienne

    2012-01-01

    The literature is full of examples of inbreeding avoidance, while recent mathematical models predict that inbreeding tolerance or even inbreeding preference should be expected under several realistic conditions like e.g. polygyny. We investigated male and female mate preferences with respect to relatedness in the fruit fly D. melanogaster. Experiments offered the choice between a first order relative (full-sibling or parent) and an unrelated individual with the same age and mating history. We found that females significantly preferred mating with their brothers, thus supporting inbreeding preference. Moreover, females did not avoid mating with their fathers, and males did not avoid mating with their sisters, thus supporting inbreeding tolerance. Our experiments therefore add empirical evidence for inbreeding preference, which strengthens the prediction that inbreeding tolerance and preference can evolve under specific circumstances through the positive effects on inclusive fitness. PMID:23251487

  17. Generation-based life table analysis reveals manifold effects of inbreeding on the population fitness in Plutella xylostella

    PubMed Central

    Peng, Lu; Zou, Mingmin; Ren, Nana; Xie, Miao; Vasseur, Liette; Yang, Yifan; He, Weiyi; Yang, Guang; Gurr, Geoff M.; Hou, Youming; You, Shijun; You, Minsheng

    2015-01-01

    Understanding how inbreeding affects fitness is biologically important for conservation and pest management. Despite being a worldwide pest of many economically important cruciferous crops, the influence of inbreeding on diamondback moth, Plutella xylostella (L.), populations is currently unknown. Using age-stage-specific life tables, we quantified the inbreeding effects on fitness-related traits and demographic parameters of P. xylostella. Egg hatching rate, survival and fecundity of the inbred line significantly declined compared to those of the outbred line over time. The inbred P. xylostella line showed significantly lower intrinsic rate of increase (r), net reproduction rate (R0), and finite increase rate (λ), and increasing generation time (T). Inbreeding effects vary with developmental stages and the fitness-related traits can be profoundly affected by the duration of inbreeding. Our work provides a foundation for further studies on molecular and genetic bases of the inbreeding depression for P. xylostella. PMID:26227337

  18. A Comparison of Inbreeding Depression in Tropical and Widespread Drosophila Species

    PubMed Central

    Bechsgaard, Jesper S.; Hoffmann, Ary A.; Sgró, Carla; Loeschcke, Volker; Bilde, Trine; Kristensen, Torsten N.

    2013-01-01

    The evolutionary history of widespread and specialized species is likely to cause a different genetic architecture of key ecological traits in the two species groups. This may affect how these two groups respond to inbreeding. Here we investigate inbreeding effects in traits related to performance in 5 widespread and 5 tropical restricted species of Drosophila with the aim of testing whether the two species groups suffered differently from inbreeding depression. The traits investigated were egg-to-adult viability, developmental time and resistance to heat, cold and desiccation. Our results showed that levels of inbreeding depression were species and trait specific and did not differ between the species groups for stress resistance traits. However, for the life history traits developmental time and egg-to adult viability, more inbreeding depression was observed in the tropical species. The results reported suggest that for life history traits tropical species of Drosophila will suffer more from inbreeding depression than widespread species in case of increases in the rate of inbreeding e.g. due to declines in population sizes. PMID:23460779

  19. A Genetic Analysis of Taoyuan Pig and Its Phylogenetic Relationship to Eurasian Pig Breeds

    PubMed Central

    Li, Kuan-Yi; Li, Kuang-Ti; Cheng, Chun-Chun; Chen, Chia-Hsuan; Hung, Chien-Yi; Ju, Yu-Ten

    2015-01-01

    Taoyuan pig is a native Taiwan breed. According to the historical record, the breed was first introduced to Taiwan from Guangdong province, Southern China, around 1877. The breed played an important role in Taiwan’s early swine industry. It was classified as an indigenous breed in 1986. After 1987, a conserved population of Taoyuan pig was collected and reared in isolation. In this study, mitochondrial DNA sequences and 18 microsatellite markers were used to investigate maternal lineage and genetic diversity within the Taoyuan pig population. Population differentiation among Taoyuan, Asian type, and European type pig breeds was also evaluated using differentiation indices. Only one D-loop haplotype of the Taoyuan pig was found. It clustered with Lower Changjiang River Basin and Central China Type pig breeds. Based on the polymorphism of microsatellite markers, a positive fixation index value (FIS) indicates that the conserved Taoyuan population suffers from inbreeding. In addition, high FST values (>0.2105) were obtained, revealing high differentiation among these breeds. Non-metric multi-dimensional scaling showed a clear geometric structure among 7 breeds. Together these results indicate that maternally Taoyuan pig originated in the Lower Changjiang River Basin and Central China; however, since being introduced to Taiwan differentiation has occurred. In addition, Taoyuan pig has lost genetic diversity in both its mitochondrial and nuclear genomes. PMID:25656199

  20. Direct and indirect genetic and fine-scale location effects on breeding date in song sparrows.

    PubMed

    Germain, Ryan R; Wolak, Matthew E; Arcese, Peter; Losdat, Sylvain; Reid, Jane M

    2016-11-01

    Quantifying direct and indirect genetic effects of interacting females and males on variation in jointly expressed life-history traits is central to predicting microevolutionary dynamics. However, accurately estimating sex-specific additive genetic variances in such traits remains difficult in wild populations, especially if related individuals inhabit similar fine-scale environments. Breeding date is a key life-history trait that responds to environmental phenology and mediates individual and population responses to environmental change. However, no studies have estimated female (direct) and male (indirect) additive genetic and inbreeding effects on breeding date, and estimated the cross-sex genetic correlation, while simultaneously accounting for fine-scale environmental effects of breeding locations, impeding prediction of microevolutionary dynamics. We fitted animal models to 38 years of song sparrow (Melospiza melodia) phenology and pedigree data to estimate sex-specific additive genetic variances in breeding date, and the cross-sex genetic correlation, thereby estimating the total additive genetic variance while simultaneously estimating sex-specific inbreeding depression. We further fitted three forms of spatial animal model to explicitly estimate variance in breeding date attributable to breeding location, overlap among breeding locations and spatial autocorrelation. We thereby quantified fine-scale location variances in breeding date and quantified the degree to which estimating such variances affected the estimated additive genetic variances. The non-spatial animal model estimated nonzero female and male additive genetic variances in breeding date (sex-specific heritabilities: 0·07 and 0·02, respectively) and a strong, positive cross-sex genetic correlation (0·99), creating substantial total additive genetic variance (0·18). Breeding date varied with female, but not male inbreeding coefficient, revealing direct, but not indirect, inbreeding depression. All three spatial animal models estimated small location variance in breeding date, but because relatedness and breeding location were virtually uncorrelated, modelling location variance did not alter the estimated additive genetic variances. Our results show that sex-specific additive genetic effects on breeding date can be strongly positively correlated, which would affect any predicted rates of microevolutionary change in response to sexually antagonistic or congruent selection. Further, we show that inbreeding effects on breeding date can also be sex specific and that genetic effects can exceed phenotypic variation stemming from fine-scale location-based variation within a wild population. © 2016 The Authors. Journal of Animal Ecology © 2016 British Ecological Society.

  1. Inbreeding among pen-reared quail

    USGS Publications Warehouse

    Nestler, R.B.; Nelson, A.L.

    1945-01-01

    The effect of inbreeding in wildlife species has received attention from several sources. Recently the 'inbreeding theory' as a possible explanation of cycles in game populations was given careful consideration by a group of wildlife experts and geneticists. Scott's symposium (1944) consisting of comments received from eight authorities revealed unanimity in a decision that inbreeding is not the causative factor.

  2. Publications - GMC 305 | Alaska Division of Geological & Geophysical

    Science.gov Websites

    DGGS GMC 305 Publication Details Title: Fluid inclusion stratigraphy (FIS) data for the following Reference Middleton, 2002, Fluid inclusion stratigraphy (FIS) data for the following exploratory oil/gas

  3. Complementary sex determination, inbreeding depression and inbreeding avoidance in a gregarious sawfly.

    PubMed

    Harper, K E; Bagley, R K; Thompson, K L; Linnen, C R

    2016-11-01

    Although most Hymenoptera reproduce via arrhenotokous haplodiploidy, the underlying genetic mechanisms vary. Of these, the most widespread mechanism appears to be single-locus complementary sex determination (sl-CSD), in which individuals that are diploid and heterozygous at a sex-determining locus are female, and individuals that are homozygous or hemizygous are male. Because inbreeding increases the probability of producing diploid males, which are often sterile or inviable, sl-CSD can generate substantial inbreeding depression. To counteract this, Hymenoptera with traits that promote inbreeding, such as gregariousness, may evolve one or more of the following: inbreeding avoidance, functional diploid males or alternative sex determination mechanisms. Here, we investigate sex determination, inbreeding depression and inbreeding avoidance in Neodiprion lecontei, a gregarious, pine-feeding sawfly in the family Diprionidae. First, via inbreeding experiments and flow cytometry, we demonstrate that this species has CSD. By modeling expected sex ratios under different conditions, we also show that our data are consistent with sl-CSD. Second, via tracking survival in inbred and outbred families, we demonstrate that inbred families have reduced larval survival and that this mortality is partly attributable to the death of diploid males. Third, using a no-choice mating assay, we demonstrate that females are less willing to mate with siblings than nonsiblings. Together, these results suggest that inbreeding depression stemming from CSD has shaped mating behavior in N. lecontei. These results also set the stage for future comparative work that will investigate the interplay between sex determination, ecology and behavior in additional diprionid species that vary in larval gregariousness.

  4. Evidence for inbreeding depression and pre-copulatory, but not post copulatory inbreeding avoidance in the cabbage beetle Colaphellus bowringi.

    PubMed

    Liu, XingPing; Tu, XiaoYun; He, HaiMin; Chen, Chao; Xue, FangSen

    2014-01-01

    Inbreeding is known to have adverse effects on fitness-related traits in a range of insect species. A series of theoretical and experimental studies have suggested that polyandrous insects could avoid the cost of inbreeding via pre-copulatory mate choice and/or post-copulatory mechanisms. We looked for evidence of pre-copulatory inbreeding avoidance using female mate preference trials, in which females were given the choice of mating with either of two males, a sibling and a non-sibling. We also tested for evidence of post-copulatory inbreeding avoidance by conducting double mating experiments, in which four sibling females were mated with two males sequentially, either two siblings, two non-siblings or a sibling and a non-sibling in either order. We identified substantial inbreeding depression: offspring of females mated to full siblings had lower hatching success, slower development time from egg to adult, lower survival of larval and pupal stages, and lower adult body mass than the offspring of females mated to non-sibling males. We also found evidence of pre-copulatory inbreeding avoidance, as females preferred to mate with non-sibling males. However, we did not find any evidence of post-copulatory inbreeding avoidance: egg hatching success of females mating to both sibling and non-sibling males were consistent with sperm being used without bias in relation to mate relatedness. Our results suggest that this cabbage beetle has evolved a pre-copulatory mechanism to avoid matings between close relative, but that polyandry is apparently not an inbreeding avoidance mechanism in C. bowringi.

  5. Evidence for Inbreeding Depression and Pre-Copulatory, but Not Post Copulatory Inbreeding Avoidance in the Cabbage Beetle Colaphellus bowringi

    PubMed Central

    Liu, XingPing; Tu, XiaoYun; He, HaiMin; Chen, Chao; Xue, FangSen

    2014-01-01

    Inbreeding is known to have adverse effects on fitness-related traits in a range of insect species. A series of theoretical and experimental studies have suggested that polyandrous insects could avoid the cost of inbreeding via pre-copulatory mate choice and/or post-copulatory mechanisms. We looked for evidence of pre-copulatory inbreeding avoidance using female mate preference trials, in which females were given the choice of mating with either of two males, a sibling and a non-sibling. We also tested for evidence of post-copulatory inbreeding avoidance by conducting double mating experiments, in which four sibling females were mated with two males sequentially, either two siblings, two non-siblings or a sibling and a non-sibling in either order. We identified substantial inbreeding depression: offspring of females mated to full siblings had lower hatching success, slower development time from egg to adult, lower survival of larval and pupal stages, and lower adult body mass than the offspring of females mated to non-sibling males. We also found evidence of pre-copulatory inbreeding avoidance, as females preferred to mate with non-sibling males. However, we did not find any evidence of post-copulatory inbreeding avoidance: egg hatching success of females mating to both sibling and non-sibling males were consistent with sperm being used without bias in relation to mate relatedness. Our results suggest that this cabbage beetle has evolved a pre-copulatory mechanism to avoid matings between close relative, but that polyandry is apparently not an inbreeding avoidance mechanism in C. bowringi. PMID:24718627

  6. Complementary sex determination, inbreeding depression and inbreeding avoidance in a gregarious sawfly

    PubMed Central

    Harper, K E; Bagley, R K; Thompson, K L; Linnen, C R

    2016-01-01

    Although most Hymenoptera reproduce via arrhenotokous haplodiploidy, the underlying genetic mechanisms vary. Of these, the most widespread mechanism appears to be single-locus complementary sex determination (sl-CSD), in which individuals that are diploid and heterozygous at a sex-determining locus are female, and individuals that are homozygous or hemizygous are male. Because inbreeding increases the probability of producing diploid males, which are often sterile or inviable, sl-CSD can generate substantial inbreeding depression. To counteract this, Hymenoptera with traits that promote inbreeding, such as gregariousness, may evolve one or more of the following: inbreeding avoidance, functional diploid males or alternative sex determination mechanisms. Here, we investigate sex determination, inbreeding depression and inbreeding avoidance in Neodiprion lecontei, a gregarious, pine-feeding sawfly in the family Diprionidae. First, via inbreeding experiments and flow cytometry, we demonstrate that this species has CSD. By modeling expected sex ratios under different conditions, we also show that our data are consistent with sl-CSD. Second, via tracking survival in inbred and outbred families, we demonstrate that inbred families have reduced larval survival and that this mortality is partly attributable to the death of diploid males. Third, using a no-choice mating assay, we demonstrate that females are less willing to mate with siblings than nonsiblings. Together, these results suggest that inbreeding depression stemming from CSD has shaped mating behavior in N. lecontei. These results also set the stage for future comparative work that will investigate the interplay between sex determination, ecology and behavior in additional diprionid species that vary in larval gregariousness. PMID:27381325

  7. EFFECTIVENESS OF SELECTION IN REDUCING THE GENETIC LOAD IN POPULATIONS OF PEROMYSCUS POLIONOTUS DURING GENERATIONS OF INBREEDING.

    PubMed

    Lacy, Robert C; Ballou, Jonathan D

    1998-06-01

    It has been hypothesized that natural selection reduces the "genetic load" of deleterious alleles from populations that inbreed during bottlenecks, thereby ameliorating impacts of future inbreeding. We tested the efficiency with which natural selection purges deleterious alleles from three subspecies of Peromyscus polionotus during 10 generations of laboratory inbreeding by monitoring pairing success, litter size, viability, and growth in 3604 litters produced from 3058 pairs. In P. p. subgriseus, there was no reduction across generations in inbreeding depression in any of the fitness components. Strongly deleterious recessive alleles may have been removed previously during episodes of local inbreeding in the wild, and the residual genetic load in this population was not further reduced by selection in the lab. In P. p. rhoadsi, four of seven fitness components did show a reduction of the genetic load with continued inbreeding. The average reduction in the genetic load was as expected if inbreeding depression in this population is caused by highly deleterious recessive alleles that are efficiently removed by selection. For P. p. leucocephalus a population that experiences periodic bottlenecks in the wild, the effect of further inbreeding in the laboratory was to exacerbate rather than reduce the genetic load. Recessive deleterious alleles may have been removed from this population during repeated bottlenecks in the wild; the population may be close to a threshold level of heterozygosity below which fitness declines rapidly. Thus, the effects of selection on inbreeding depression varied substantially among populations, perhaps due to different histories of inbreeding and selection. © 1998 The Society for the Study of Evolution.

  8. When not to avoid inbreeding.

    PubMed

    Kokko, Hanna; Ots, Indrek

    2006-03-01

    Avoidance of incestuous matings is widely reported across many animal taxa, and the adaptive value of such behavior is explained through inbreeding depression. However, an old and somewhat neglected theoretical result predicts that inbred matings offer another, positive effect on the inclusive fitness of parents: an individual who mates with a relative will help that relative to spread genes identical by descent. This benefit can be substantial, if the additional mating achieved by the relative does not harm his mating success otherwise, and in the context of selfing in plants the phenomenon is well known. Here, we develop a model that derives expected values of inbreeding tolerance, that is, the magnitude of inbreeding depression that is required to make individuals avoid inbreeding, for different animal life histories and parental investment patterns. We also distinguish between simultaneous and sequential mate choice, and show that inbreeding tolerance should often be remarkably high in the latter scenario in particular, although egalitarian parental care will lead to lower tolerance. There is a mismatch between theory and data: the almost complete lack of cases where individuals prefer to mate incestuously is at odds with a large overlap between the predicted range of inbreeding tolerance and estimates of inbreeding depression found in nature. We discuss four different solutions to this enigma, and suggest that inbreeding tolerance, where it is found, should not always be attributed to a simple constraint that has prevented finding any other mate.

  9. Inbreeding, energy use and condition.

    PubMed

    Ketola, T; Kotiaho, J S

    2009-04-01

    In energetic terms, fitness may be seen to be dependent on successful allocation of energy between life-history traits. In addition, fitness will be constrained by the energy allocation ability, which has also been defined as condition. We suggest here that the allocation ability, estimated as the difference between total energy budget and maintenance metabolism, may be used as a measure of condition. We studied this possibility by measuring the resting metabolic rate and metabolism during forced exercise in Gryllodes sigillatus crickets. To verify that these metabolic traits are closely related to fitness, we experimentally manipulated the degree of inbreeding of individuals belonging to the same pedigree, hence enabling analysis of both inbreeding depression and heritability of traits. We found that inbreeding increased maintenance metabolism, whereas total energy budget was rather insensitive to inbreeding. Despite this, inbreeding led to decreased allocation ability. Overall, metabolic traits exhibited strong inbreeding depression and rather low heritabilities, a pattern that is typical of traits under strong selection. However, traditionally used condition indices were not affected by inbreeding and did not covary with metabolic traits. Moreover, in contrast to the common, but largely untested, tenet, it seems that high resting metabolic rate is indicative of low rather than high quality.

  10. Inbreeding depression in two seed-feeding beetles, Callosobruchus maculatus and Stator limbatus (Coleoptera: Chrysomelidae).

    PubMed

    Fox, C W; Scheibly, K L; Smith, B P; Wallin, W G

    2007-02-01

    Inbreeding depression is well documented in insects but the degree to which inbreeding depression varies among populations within species, and among traits within populations, is poorly studied in insects other than Drosophila. Inbreeding depression was examined in two long-term laboratory colonies of the seed beetle, Callosobruchus maculatus (Fabricius), which are used frequently as models for experiments in ecology, evolution and behaviour. Inbreeding depression in these laboratory colonies are compared with one recently field-collected population of a different seed beetle, Stator limbatus Horn. Inbreeding reduced embryogenesis, egg hatch and larval survival in both species, such that eggs produced by sib matings were >17% less likely to produce an adult offspring. Inbred larvae also took 4-6% longer to develop to emergence in both species. Inbreeding depression varied among the measured traits but did not differ between the two populations of C. maculatus for any trait, despite the large geographic distance between source populations (western Africa vs. southern India). Inbreeding depression was similar in magnitude between C. maculatus and S. limbatus. This study demonstrates that these laboratory populations of C. maculatus harbour substantial genetic loads, similar to the genetic load of populations of S. limbatus recently collected from the field.

  11. Effects of inbreeding on potential and realized immune responses in Tenebrio molitor.

    PubMed

    Rantala, Markus J; Viitaniemi, Heidi; Roff, Derek A

    2011-06-01

    Although numerous studies on vertebrates suggest that inbreeding reduces their resistance against parasites and pathogens, studies in insects have found contradictory evidence. In this study we tested the effect of 1 generation of brother-sister mating (inbreeding) on potential and realized immune responses and other life-history traits in Tenebrio molitor. We found that inbreeding reduced adult mass, pre-adult survival and increased development time, suggesting that inbreeding reduced the condition of the adults and thus potentially made them more susceptible to physiological stress. However, we found no significant effect of inbreeding on the potential immune response (encapsulation response), but inbreeding reduced the realized immune response (resistance against the entomopathogenic fungi, Beauveria bassiana). There was a significant family effect on encapsulation response, but no family effect on the resistance against the entomopathogenic fungi. Given that this latter trait showed significant inbreeding depression and that the sample size for the family-effect analysis was small it is likely that the lack of a significant family effect is due to reduced statistical power, rather than the lack of a heritable basis to the trait. Our study highlights the importance of using pathogens and parasites in immunoecological studies.

  12. Sounds different: inbreeding depression in sexually selected traits in the cricket Teleogryllus commodus.

    PubMed

    Drayton, J M; Hunt, J; Brooks, R; Jennions, M D

    2007-05-01

    If male sexual signalling is honest because it captures genetic variation in condition then traits that are important mate choice cues should be disproportionately affected by inbreeding relative to other traits. To test this, we investigated the effect of brother-sister mating on advertisement calling by male field crickets Teleogryllus commodus. We quantified the effect of one generation of inbreeding on nightly calling effort and five finer-scale aspects of call structure that have been shown to influence attractiveness. We also quantified inbreeding depression on six life history traits and one morphological trait. Inbreeding significantly reduced hatching success, nymph survival and adult lifespan but had no detectable effect on hatching rate, developmental rate or adult body mass. The effect of inbreeding on sexually selected traits was equivocal. There was no decline in calling effort (seconds of sound production/night) by inbred males, but there were highly significant changes in three of five finer-scale call parameters. Sexually selected traits clearly vary in their susceptibility to inbreeding depression.

  13. Condition, innate immunity and disease mortality of inbred crows

    PubMed Central

    Townsend, Andrea K.; Clark, Anne B.; McGowan, Kevin J.; Miller, Andrew D.; Buckles, Elizabeth L.

    2010-01-01

    Cooperatively breeding American crows (Corvus brachyrhynchos) suffer a severe disease-mediated survival cost from inbreeding, but the proximate mechanisms linking inbreeding to disease are unknown. Here, we examine indices of nestling body condition and innate immunocompetence in relationship to inbreeding and disease mortality. Using an estimate of microsatellite heterozygosity that predicts inbreeding in this population, we show that inbred crows were in relatively poor condition as nestlings, and that body condition index measured in the first 2–33 days after hatching, in addition to inbreeding index, predicted disease probability in the first 34 months of life. Inbred nestlings also mounted a weaker response along one axis of innate immunity: the proportion of bacteria killed in a microbiocidal assay increased as heterozygosity index increased. Relatively poor body condition and low innate immunocompetence are two mechanisms that might predispose inbred crows to ultimate disease mortality. A better understanding of condition-mediated inbreeding depression can guide efforts to minimize disease costs of inbreeding in small populations. PMID:20444716

  14. Inbreeding and the evolution of sociality in arthropods

    NASA Astrophysics Data System (ADS)

    Tabadkani, Seyed Mohammad; Nozari, Jamasb; Lihoreau, Mathieu

    2012-10-01

    Animals have evolved strategies to optimally balance costs and benefits of inbreeding. In social species, these adaptations can have a considerable impact on the structure, the organization, and the functioning of groups. Here, we consider how selection for inbreeding avoidance fashions the social behavior of arthropods, a phylum exhibiting an unparalleled richness of social lifestyles. We first examine life histories and parental investment patterns determining whether individuals should actively avoid or prefer inbreeding. Next, we illustrate the diversity of inbreeding avoidance mechanisms in arthropods, from the dispersal of individuals to the rejection of kin during mate choice and the production of unisexual broods by females. Then, we address the particular case of haplodiploid insects. Finally, we discuss how inbreeding may drive and shape the evolution of arthropods societies along two theoretical pathways.

  15. Inbreeding and the evolution of sociality in arthropods.

    PubMed

    Tabadkani, Seyed Mohammad; Nozari, Jamasb; Lihoreau, Mathieu

    2012-10-01

    Animals have evolved strategies to optimally balance costs and benefits of inbreeding. In social species, these adaptations can have a considerable impact on the structure, the organization, and the functioning of groups. Here, we consider how selection for inbreeding avoidance fashions the social behavior of arthropods, a phylum exhibiting an unparalleled richness of social lifestyles. We first examine life histories and parental investment patterns determining whether individuals should actively avoid or prefer inbreeding. Next, we illustrate the diversity of inbreeding avoidance mechanisms in arthropods, from the dispersal of individuals to the rejection of kin during mate choice and the production of unisexual broods by females. Then, we address the particular case of haplodiploid insects. Finally, we discuss how inbreeding may drive and shape the evolution of arthropods societies along two theoretical pathways.

  16. Prevalence of consanguineous marriages in west and south of Afghanistan.

    PubMed

    Saadat, Mostafa; Tajbakhsh, Khadijeh

    2013-11-01

    The prevalence of consanguinity in eight provinces of Afghanistan has recently been reported by Saify & Saadat (2012). The present cross-sectional study was done in order to illustrate the prevalence and types of consanguineous marriages among other populations of Afghanistan. Data on types of marriages were collected using a simple questionnaire. The total number of couples in this study was 5200 from the following provinces: Farah, Ghazni, Herat, Hilmand, Kabul, Kandahar, Logar, Parwan and Wardak. Consanguineous marriages were classified by the degree of relationship between couples: double first cousins, first cousins, first cousins once removed, second cousins and beyond second cousins. The coefficient of inbreeding (F) was calculated for each couple and the mean coefficient of inbreeding (α) estimated for each population. The α in the country was 0.0226, ranging from 0.0203 in Farah province to 0.0246 in Herat province. There were significant differences between provinces for frequencies of different types of marriages (p<0.001). First cousin marriages (21.7%) were the most common type of consanguineous marriages, followed by second cousins (16.0%), first cousins once removed (14.0%), beyond second cousins (6.9%) and double first cousins (1.6%). There was significant difference between ethnic groups for the types of marriages (p<0.001). Tajiks (Soni) and Sadats showed the lowest (α=0.0215) and highest (α=0.0242) levels of consanguinity among ethnic groups in Afghanistan, respectively. The present study shows that the Afghani populations, the same as other Islamic populations, have high levels of consanguinity.

  17. Relationships among and variation within rare breeds of swine.

    PubMed

    Roberts, K S; Lamberson, W R

    2015-08-01

    Extinction of rare breeds of livestock threatens to reduce the total genetic variation available for selection in the face of the changing environment and new diseases. Swine breeds facing extinction typically share characteristics such as small size, slow growth rate, and high fat percentage, which limit them from contributing to commercial production. Compounding the risk of loss of variation is the lack of pedigree information for many rare breeds due to inadequate herd books, which increases the chance that producers are breeding closely related individuals. By making genetic data available, producers can make more educated breeding decisions to preserve genetic diversity in future generations, and conservation organizations can prioritize investments in breed preservation. The objective of this study was to characterize genetic variation within and among breeds of swine and prioritize heritage breeds for preservation. Genotypes from the Illumina PorcineSNP60 BeadChip (GeneSeek, Lincoln, NE) were obtained for Guinea, Ossabaw Island, Red Wattle, American Saddleback, Mulefoot, British Saddleback, Duroc, Landrace, Large White, Pietrain, and Tamworth pigs. A whole-genome analysis toolset was used to construct a genomic relationship matrix and to calculate inbreeding coefficients for the animals within each breed. Relatedness and average inbreeding coefficient differed among breeds, and pigs from rare breeds were generally more closely related and more inbred ( < 0.05). A multidimensional scaling diagram was constructed based on the SNP genotypes. Animals within breeds clustered tightly together except for 2 Guinea pigs. Tamworth, Duroc, and Mulefoot tended to not cluster with the other 7 breeds.

  18. Linear Magnetochiral effect in Weyl Semimetals

    NASA Astrophysics Data System (ADS)

    Cortijo, Alberto

    We describe the presence of a linear magnetochiral effect in time reversal breaking Weyl semimetals. The magnetochiral effect consists in a simultaneous linear dependence of the magnetotransport coefficients with the magnetic field and a momentum vector. This simultaneous dependence is allowed by the Onsager reciprocity relations, being the separation vector between the Weyl nodes the vector that plays such role. This linear magnetochiral effect constitutes a new transport effect associated to the topological structures linked to time reversal breaking Weyl semimetals. European Union structural funds and the Comunidad de Madrid MAD2D-CM Program (S2013/MIT-3007) and MINECO (Spain) Grant No. FIS2015-73454-JIN.

  19. Electrocardiographic infarct size assessment after thrombolysis: insights from the Acute Myocardial Infarction STudy ADenosine (AMISTAD) trial.

    PubMed

    Barbagelata, Alejandro; Di Carli, Marcelo F; Califf, Robert M; Garg, Jyotsna; Birnbaum, Yochai; Grinfeld, Liliana; Gibbons, Raymond J; Granger, Christopher B; Goodman, Shaun G; Wagner, Galen S; Mahaffey, Kenneth W

    2005-10-01

    Noninvasive methods are needed to evaluate reperfusion success in patients with acute myocardial infarction (MI). The AMISTAD trial was analyzed to compare MI size and myocardial salvage determined by electrocardiogram (ECG) with technetium Tc 99m sestamibi single-photon emission computerized tomography (SPECT) imaging. Of 236 patients enrolled in AMISTAD, 166 (70 %) with no ECG confounding factors and no prior MI were included in this analysis. Of these, group 1 (126 patients, 53%) had final infarct size (FIS) available by both ECG and SPECT. Group 2 (56 patients, 24%) had myocardium at risk, FIS, and salvage index (SI) assessed by both SPECT and ECG techniques. Aldrich/Clemmensen scores for myocardium at risk and the Selvester QRS score for final MI size were used. Salvage index was calculated as follows: SI = (myocardium at risk-FIS)/(myocardium at risk). In group 1, FIS was 15% (6, 24) as measured by ECG and 11% (2, 27) as measured by SPECT. In the adenosine group, FIS was 12% (6, 21) and 11% (2, 22). In the placebo group, FIS was 16.5% (7.5, 24) and 11.5% (3.0, 38.5) by ECG and SPECT, respectively. The overall correlation between SPECT and ECG for FIS was 0.58 (P = .0001): 0.60 in the placebo group (P = .0001) and 0.54 (P = .0001) in the adenosine group. In group 2, myocardium at risk was 23% (17, 30) and 26% (10, 50) with ECG and SPECT, respectively (P = .0066). Final infarct size was 17% (6, 21) and 12% (1, 24) (P < .0001). The SI was 29% (-7, 57) and 46% (15, 79) with ECG and SPECT, respectively (P = .0510). The ECG measurement of infarct size has a moderate relationship with SPECT infarct size measurements in the population with available assessments. This ECG algorithm must further be validated on clinical outcomes.

  20. Asynchronous North Atlantic iceberg discharges during the last glacial period explained through ocean circulation changes

    NASA Astrophysics Data System (ADS)

    Montoya, M.; Banderas, R.; Alvarez-Solas, J.; Robinson, A.

    2017-12-01

    Heinrich events (HEs) are episodes of increased ice-rafted debris (IRD) deposition in the North Atlantic Ocean that took place during stadials of the last glacial period, and are interpreted as massive iceberg discharges from the Laurentide Ice Sheet (LIS). IRD originating from the Fennoscandian ice sheet (FIS) accompany HEs during stadials, but enhanced calving has also been reported, however, during interstadials. While a number of mechanisms have been proposed to explain HEs involving the LIS, the role of the FIS during these events has not received much attention from a modeling perspective. Thus, a consistent explanation for the asynchronous occurrence of enhanced IRD throughout the North Atlantic is lacking. Here we investigate the response of the FIS to millennial-scale climate variability during the last glacial period. We use a hybrid three-dimensional thermomechanical ice-sheet model forced offline through a novel perturbative approach accounting for a more realistic treatment of millennial-scale climatic variability, including both the atmospheric and the oceanic components. Our results show that the FIS responds with enhanced iceberg discharges in phase with interstadial warmings in the North Atlantic. Separating the atmospheric and oceanic effects demonstrates the major role of the ocean in controlling the dynamics of the FIS on millennial timescales. While the atmospheric forcing alone is only able to produce modest iceberg discharges (< 0.02 Sv), the warmer oceanic surface waters lead to much higher rates of iceberg surges (ca. 0.1 Sv) as a result of relatively high basal melting rates within the margins of the ice sheet through the reactivation of ice streams in the northeastern (NE) part of the ice sheet. Together with previous work our results provide a consistent explanation for the asynchronous response of the LIS and the FIS to glacial abrupt climate changes. Finally, they support the notion that the FIS is a likely candidate to produce iceberg discharges during interstadials as suggested by IRD in the region.

  1. Identification of novel molecular markers for prognosis estimation of acute myeloid leukemia: over-expression of PDCD7, FIS1 and Ang2 may indicate poor prognosis in pretreatment patients with acute myeloid leukemia.

    PubMed

    Tian, Yiming; Huang, Zoufang; Wang, Zhixiang; Yin, Changxin; Zhou, Lanlan; Zhang, Lingxiu; Huang, Kaikai; Zhou, Hongsheng; Jiang, Xuejie; Li, Jinming; Liao, Libin; Yang, Mo; Meng, Fanyi

    2014-01-01

    Numerous factors impact on the prognosis of acute myeloid leukemia (AML), among which molecular genetic abnormalities are developed increasingly, however, accurate prediction for newly diagnosed AML patients remains unsatisfied. For further improving the prognosis evaluation system, we investigated the transcripts levels of PDCD7, FIS1, FAM3A, CA6, APP, KLRF1, ATCAY, GGT5 and Ang2 in 97 AML patients and 30 non-malignant controls, and validated using the published microarray data from 225 cytogenetically normal AML (CN-AML) patients treated according to the German AMLCG-1999 protocol. Real-time quantitative polymerase chain reaction and western blot were carried out, and clinical data were collected and analyzed. High Ang2 and FIS1 expression discriminated the CR rate of AML patients (62.5% versus 82.9% for Ang2, P = 0.011; 61.4% versus 82.2% for FIS1, P = 0.029). In CN-AML, patients with high FIS1 expression were more likely to be resistant to two courses of induction (P = 0.035). Overall survival (OS) and relapse-free survival (RFS) were shorter in CN-AML patients with high PDCD7 expression (P<0.001; P = 0.006), and PDCD7 was revealed to be an independent risk factor for OS in CN-AML (P = 0.004). In the analysis of published data from 225 CN-AML patients, PDCD7 remained independently predicting OS in CN-AML (P = 0.039). As a conclusion, Ang2 and FIS1 seem related to decreased CR rate of AML patients, and PDCD7 is associated with shorter OS and RFS in CN-AML. Hence, PDCD7, Ang2 and FIS1 may indicate a more aggressive form and poor prognosis of AML.

  2. Identification of Novel Molecular Markers for Prognosis Estimation of Acute Myeloid Leukemia: Over-Expression of PDCD7, FIS1 and Ang2 May Indicate Poor Prognosis in Pretreatment Patients with Acute Myeloid Leukemia

    PubMed Central

    Tian, Yiming; Huang, Zoufang; Wang, Zhixiang; Yin, Changxin; Zhou, Lanlan; Zhang, Lingxiu; Huang, Kaikai; Zhou, Hongsheng; Jiang, Xuejie; Li, Jinming; Liao, Libin; Yang, Mo; Meng, Fanyi

    2014-01-01

    Numerous factors impact on the prognosis of acute myeloid leukemia (AML), among which molecular genetic abnormalities are developed increasingly, however, accurate prediction for newly diagnosed AML patients remains unsatisfied. For further improving the prognosis evaluation system, we investigated the transcripts levels of PDCD7, FIS1, FAM3A, CA6, APP, KLRF1, ATCAY, GGT5 and Ang2 in 97 AML patients and 30 non-malignant controls, and validated using the published microarray data from 225 cytogenetically normal AML (CN-AML) patients treated according to the German AMLCG-1999 protocol. Real-time quantitative polymerase chain reaction and western blot were carried out, and clinical data were collected and analyzed. High Ang2 and FIS1 expression discriminated the CR rate of AML patients (62.5% versus 82.9% for Ang2, P = 0.011; 61.4% versus 82.2% for FIS1, P = 0.029). In CN-AML, patients with high FIS1 expression were more likely to be resistant to two courses of induction (P = 0.035). Overall survival (OS) and relapse-free survival (RFS) were shorter in CN-AML patients with high PDCD7 expression (P<0.001; P = 0.006), and PDCD7 was revealed to be an independent risk factor for OS in CN-AML (P = 0.004). In the analysis of published data from 225 CN-AML patients, PDCD7 remained independently predicting OS in CN-AML (P = 0.039). As a conclusion, Ang2 and FIS1 seem related to decreased CR rate of AML patients, and PDCD7 is associated with shorter OS and RFS in CN-AML. Hence, PDCD7, Ang2 and FIS1 may indicate a more aggressive form and poor prognosis of AML. PMID:24416201

  3. Translating effects of inbreeding depression on component vital rates to overall population growth in endangered bighorn sheep.

    PubMed

    Johnson, Heather E; Mills, L Scott; Wehausen, John D; Stephenson, Thomas R; Luikart, Gordon

    2011-12-01

    Evidence of inbreeding depression is commonly detected from the fitness traits of animals, yet its effects on population growth rates of endangered species are rarely assessed. We examined whether inbreeding depression was affecting Sierra Nevada bighorn sheep (Ovis canadensis sierrae), a subspecies listed as endangered under the U.S. Endangered Species Act. Our objectives were to characterize genetic variation in this subspecies; test whether inbreeding depression affects bighorn sheep vital rates (adult survival and female fecundity); evaluate whether inbreeding depression may limit subspecies recovery; and examine the potential for genetic management to increase population growth rates. Genetic variation in 4 populations of Sierra Nevada bighorn sheep was among the lowest reported for any wild bighorn sheep population, and our results suggest that inbreeding depression has reduced adult female fecundity. Despite this population sizes and growth rates predicted from matrix-based projection models demonstrated that inbreeding depression would not substantially inhibit the recovery of Sierra Nevada bighorn sheep populations in the next approximately 8 bighorn sheep generations (48 years). Furthermore, simulations of genetic rescue within the subspecies did not suggest that such activities would appreciably increase population sizes or growth rates during the period we modeled (10 bighorn sheep generations, 60 years). Only simulations that augmented the Mono Basin population with genetic variation from other subspecies, which is not currently a management option, predicted significant increases in population size. Although we recommend that recovery activities should minimize future losses of genetic variation, genetic effects within these endangered populations-either negative (inbreeding depression) or positive (within subspecies genetic rescue)-appear unlikely to dramatically compromise or stimulate short-term conservation efforts. The distinction between detecting the effects of inbreeding depression on a component vital rate (e.g., fecundity) and the effects of inbreeding depression on population growth underscores the importance of quantifying inbreeding costs relative to population dynamics to effectively manage endangered populations. ©2011 Society for Conservation Biology.

  4. Application of DNA fingerprinting to the recovery program of the endangered Puerto Rican parrot

    USGS Publications Warehouse

    Brock, M.K.; White, B.N.

    1992-01-01

    The Puerto Rican parrot was reduced to 13 animals in 1975 and as a conservation measure, a captive population was established from a few founders taken from the wild between 1973 and 1983. The number of successful breeding pairs in captivity has been !ow, and the captive breeding program has not been as productive as that of the closely related Hispaniolan parrot. Therefore, a genetic study was initiated to examine the relative levels of relatedness of the captive founders using levels of bandsharing in DNA fingerprints. Unrelated captive founder Puerto Rican parrots had the same average level of bandsharing (0.41) as second-degree relatives of the Hispaniolan parrot (0.38, P > 0,05), with an inbreeding coefficient of 0.04. High levels of bandsharing (>40%) between pairs of males and females correlated with reproductive failure, suggesting that inbreeding depression is partly responsible for the !ow number of' breeding pairs. Consequently, DNA profiling can be used to guide the captive breeding program for the Puerto Rican parrot, and other endangered species, by identifying pairs of males and females with low levels of bandsharing.

  5. Breed structure of Senepol cattle.

    PubMed

    Williams, A R; Hupp, H D; Thompson, C E; Grimes, L W

    1988-01-01

    Data were collected by the Virgin Islands Beef Cattle Improvement Program and the Virgin Islands Agricultural Experiment Station staff to establish the breed structure of the Senepol cattle. Data for the analysis were limited to the two Virgin Islands Senepol breeders with the most complete and largest set of records, representing approximately 65% of the entire Senepol population. Inbreeding (F) and coancestry relationship coefficients (rAB) and the theoretical inbreeding (FT) were determined from each data set and for the combined data from both farms, for each year, ranging from 1947 to 1984 for Annaly Farms, and from 1967 to 1984 for Castle Nugent Farm. The data sets for both farms were examined for the possibility of separation into families. Actual F within the Senepol population was relatively low, averaging less than 1.00%. Some separation into families occurred within Annaly Farms' cattle. The F and FT decreased (1.6 to 0.7% and 1.0 to 0.2%, respectively) as population numbers increased. The low F was accomplished through the breeding programs and exchanges of animals between farms on the island.

  6. Experimental proof of faster-is-slower in systems of frictional particles flowing through constrictions.

    PubMed

    Pastor, José M; Garcimartín, Angel; Gago, Paula A; Peralta, Juan P; Martín-Gómez, César; Ferrer, Luis M; Maza, Diego; Parisi, Daniel R; Pugnaloni, Luis A; Zuriguel, Iker

    2015-12-01

    The "faster-is-slower" (FIS) effect was first predicted by computer simulations of the egress of pedestrians through a narrow exit [D. Helbing, I. J. Farkas, and T. Vicsek, Nature (London) 407, 487 (2000)]. FIS refers to the finding that, under certain conditions, an excess of the individuals' vigor in the attempt to exit causes a decrease in the flow rate. In general, this effect is identified by the appearance of a minimum when plotting the total evacuation time of a crowd as a function of the pedestrian desired velocity. Here, we experimentally show that the FIS effect indeed occurs in three different systems of discrete particles flowing through a constriction: (a) humans evacuating a room, (b) a herd of sheep entering a barn, and (c) grains flowing out a 2D hopper over a vibrated incline. This finding suggests that FIS is a universal phenomenon for active matter passing through a narrowing.

  7. The role of inbreeding and outbreeding in herbivore resistance and tolerance in Vincetoxicum hirundinaria

    PubMed Central

    Muola, Anne; Mutikainen, Pia; Laukkanen, Liisa; Lilley, Marianna; Leimu, Roosa

    2011-01-01

    Background and Aims Inbreeding via self-fertilization may have negative effects on plant fitness (i.e. inbreeding depression). Outbreeding, or cross-fertilization between genetically dissimilar parental plants, may also disrupt local adaptation or allelic co-adaptation in the offspring and again lead to reduced plant fitness (i.e. outbreeding depression). Inbreeding and outbreeding may also increase plant vulnerability to natural enemies by altering plant quality or defence. The effects of inbreeding and outbreeding on plant size and response to herbivory in the perennial herb, Vincetoxicum hirundinaria, were investigated. Methods Greenhouse experiments were conducted using inbred and outbred (within- and between-population) offspring of 20 maternal plants from four different populations, quantifying plant germination, size, resistance against the specialist folivore, Abrostola asclepiadis, and tolerance of simulated defoliation. Key Results Selfed plants were smaller and more susceptible to damage by A. asclepiadis than outcrossed plants. However, herbivore biomass on selfed and outcrossed plants did not differ. The effects of inbreeding on plant performance and resistance did not differ among plant populations or families, and no inbreeding depression at all was found in tolerance of defoliation. Between-population outcrossing had no effect on plant performance or resistance against A. asclepiadis, indicating a lack of outbreeding depression. Conclusions Since inbreeding depression negatively affects plant size and herbivore resistance, inbreeding may modify the evolution of the interaction between V. hirundinaria and its specialist folivore. The results further suggest that herbivory may contribute to the maintenance of a mixed mating system of the host plants by selecting for outcrossing and reduced susceptibility to herbivore attack, and thus add to the growing body of evidence on the effects of inbreeding on the mating system evolution of the host plants and the dynamics of plant–herbivore interactions. PMID:21803741

  8. Fitness Costs Predict Emotional, Moral, and Attitudinal Inbreeding Aversion.

    PubMed

    Lespiau, Florence; Kaminski, Gwenaël

    2016-01-01

    In terms of sexual intercourse, the very last people we think about are our kin. Imagining inbreeding intercourse, whether it involves our closest kin or not, induces aversion in most people who invoke inbreeding depression problems or cultural considerations. Research has focused on the disgust felt when facing inbreeding intercourse between close kin but little is known about other responses. In this study, we considered the influence of fitness costs on aversive reactions by including disgust and emotional reaction as well as moral judgment and attitudes toward inbreeding: higher costs should induce a stronger aversive reaction. The fitness costs were manipulated by two factors: (i) the degree of the participants' involvement in the story (themselves, a sib or an unknown individual), and (ii) the degree of relatedness between the two inbreeding people (brother/sister, uncle-aunt/niece-nephew, cousin). To test this hypothesis, 140 women read and assessed different inbreeding stories varying in the fitness costs incurred. Findings showed that the higher the fitness costs were, the greater the aversive reaction was in an overall way. First, our results fitted with previous studies that tested the influence of fitness costs on disgust. Second, and more interestingly, findings went further by examining overall aversion, showing that fitness costs could influence emotions felt as well as attitudes and behaviors toward inbreeding people. The higher the fitness costs were, the less inbreeding people were perceived as moral and the more they were considered as a nuisance. However, results regarding avoidance were more nuanced.

  9. Fitness Costs Predict Emotional, Moral, and Attitudinal Inbreeding Aversion

    PubMed Central

    Lespiau, Florence; Kaminski, Gwenaël

    2016-01-01

    In terms of sexual intercourse, the very last people we think about are our kin. Imagining inbreeding intercourse, whether it involves our closest kin or not, induces aversion in most people who invoke inbreeding depression problems or cultural considerations. Research has focused on the disgust felt when facing inbreeding intercourse between close kin but little is known about other responses. In this study, we considered the influence of fitness costs on aversive reactions by including disgust and emotional reaction as well as moral judgment and attitudes toward inbreeding: higher costs should induce a stronger aversive reaction. The fitness costs were manipulated by two factors: (i) the degree of the participants' involvement in the story (themselves, a sib or an unknown individual), and (ii) the degree of relatedness between the two inbreeding people (brother/sister, uncle-aunt/niece-nephew, cousin). To test this hypothesis, 140 women read and assessed different inbreeding stories varying in the fitness costs incurred. Findings showed that the higher the fitness costs were, the greater the aversive reaction was in an overall way. First, our results fitted with previous studies that tested the influence of fitness costs on disgust. Second, and more interestingly, findings went further by examining overall aversion, showing that fitness costs could influence emotions felt as well as attitudes and behaviors toward inbreeding people. The higher the fitness costs were, the less inbreeding people were perceived as moral and the more they were considered as a nuisance. However, results regarding avoidance were more nuanced. PMID:27933026

  10. Inbreeding depression in an insect with maternal care: influences of family interactions, life stage and offspring sex.

    PubMed

    Meunier, J; Kölliker, M

    2013-10-01

    Although inbreeding is commonly known to depress individual fitness, the severity of inbreeding depression varies considerably across species. Among the factors contributing to this variation, family interactions, life stage and sex of offspring have been proposed, but their joint influence on inbreeding depression remains poorly understood. Here, we demonstrate that these three factors jointly shape inbreeding depression in the European earwig, Forficula auricularia. Using a series of cross-breeding, split-clutch and brood size manipulation experiments conducted over two generations, we first showed that sib mating (leading to inbred offspring) did not influence the reproductive success of earwig parents. Second, the presence of tending mothers and the strength of sibling competition (i.e. brood size) did not influence the expression of inbreeding depression in the inbred offspring. By contrast, our results revealed that inbreeding dramatically depressed the reproductive success of inbred adult male offspring, but only had little effect on the reproductive success of inbred adult female offspring. Overall, this study demonstrates limited effects of family interactions on inbreeding depression in this species and emphasizes the importance of disentangling effects of sib mating early and late during development to better understand the evolution of mating systems and population dynamics. © 2013 The Authors. Journal of Evolutionary Biology © 2013 European Society For Evolutionary Biology.

  11. No evidence of inbreeding avoidance despite demonstrated survival costs in a polygynous rodent.

    PubMed

    Olson, L E; Blumstein, D T; Pollinger, J R; Wayne, R K

    2012-02-01

    Individuals are generally predicted to avoid inbreeding because of detrimental fitness effects. However, several recent studies have shown that limited inbreeding is tolerated by some vertebrate species. Here, we examine the costs and benefits of inbreeding in a largely polygynous rodent, the yellow-bellied marmot (Marmota flaviventris). We use a pedigree constructed from 8 years of genetic data to determine the relatedness of all marmots in our study population and examine offspring survival, annual male reproductive success, relatedness between breeding pairs and the effects of group composition on likelihood of male reproduction to assess inbreeding in this species. We found decreased survival in inbred offspring, but equal net reproductive success among males that inbred and those that avoided it. Relatedness between breeding pairs was greater than that expected by chance, indicating that marmots do not appear to avoid breeding with relatives. Further, male marmots do not avoid inbreeding: males mate with equal frequency in groups composed of both related and unrelated females and in groups composed of only female relatives. Our results demonstrate that inbreeding can be tolerated in a polygynous species if the reproductive costs of inbreeding are low and individuals that mate indiscriminately do not suffer decreased reproductive success. © 2011 Blackwell Publishing Ltd.

  12. Inbreeding depresses sperm competitiveness, but not fertilization or mating success in male Tribolium castaneum

    PubMed Central

    Michalczyk, Łukasz; Martin, Oliver Y.; Millard, Anna L.; Emerson, Brent C.; Gage, Matthew J. G.

    2010-01-01

    As populations decline to levels where reproduction among close genetic relatives becomes more probable, subsequent increases in homozygous recessive deleterious expression and/or loss of heterozygote advantage can lead to inbreeding depression. Here, we measure how inbreeding across replicate lines of the flour beetle Tribolium castaneum impacts on male reproductive fitness in the absence or presence of male–male competition. Effects on male evolution from mating pattern were removed by enforcing monogamous mating throughout. After inbreeding across eight generations, we found that male fertility in the absence of competition was unaffected. However, we found significant inbreeding depression of sperm competitiveness: non-inbred males won 57 per cent of fertilizations in competition, while inbred equivalents only sired 42 per cent. We also found that the P2 ‘offence’ role in sperm competition was significantly more depressed under inbreeding than sperm ‘defence’ (P1). Mating behaviour did not explain these differences, and there was no difference in the viability of offspring sired by inbred or non-inbred males. Sperm length variation was significantly greater in the ejaculates of inbred males. Our results show that male ability to achieve normal fertilization success was not depressed under strong inbreeding, but that inbreeding depression in these traits occurred when conditions of sperm competition were generated. PMID:20554548

  13. Inbreeding depresses sperm competitiveness, but not fertilization or mating success in male Tribolium castaneum.

    PubMed

    Michalczyk, Lukasz; Martin, Oliver Y; Millard, Anna L; Emerson, Brent C; Gage, Matthew J G

    2010-11-22

    As populations decline to levels where reproduction among close genetic relatives becomes more probable, subsequent increases in homozygous recessive deleterious expression and/or loss of heterozygote advantage can lead to inbreeding depression. Here, we measure how inbreeding across replicate lines of the flour beetle Tribolium castaneum impacts on male reproductive fitness in the absence or presence of male-male competition. Effects on male evolution from mating pattern were removed by enforcing monogamous mating throughout. After inbreeding across eight generations, we found that male fertility in the absence of competition was unaffected. However, we found significant inbreeding depression of sperm competitiveness: non-inbred males won 57 per cent of fertilizations in competition, while inbred equivalents only sired 42 per cent. We also found that the P(2) 'offence' role in sperm competition was significantly more depressed under inbreeding than sperm 'defence' (P(1)). Mating behaviour did not explain these differences, and there was no difference in the viability of offspring sired by inbred or non-inbred males. Sperm length variation was significantly greater in the ejaculates of inbred males. Our results show that male ability to achieve normal fertilization success was not depressed under strong inbreeding, but that inbreeding depression in these traits occurred when conditions of sperm competition were generated.

  14. Inbreeding trends and pedigree analysis of Bavarian mountain hounds, Hanoverian hounds and Tyrolean hounds.

    PubMed

    Voges, S; Distl, O

    2009-10-01

    The objective of this study was to analyse genetic diversity for the three scent-hound breeds Bavarian mountain hound (BMH), Hanoverian hound (HH) and Tyrolean hound (TH) using all available pedigree information from scent-hound kennel clubs for these three breeds throughout Europe. The pedigree data of the BMH and the HH date back to 1912 and 1894, respectively. Pedigree data of the TH were available from the 1960s onwards. The reference populations included all BMH (n = 3231), HH (n = 1371) and TH (n = 1167) dogs registered between 1992 and 2004. Average generation intervals were 5.3 years for the BMH and 5.0 years for the HH and TH. Average inbreeding coefficients for the reference populations were 4.5%, 6.8% and 9.5% for the BMH, HH and TH. The effective numbers of founders, ancestors and founder genomes were lowest for the TH and highest for the BMH. The effective numbers of founder genomes were 10.9, 5.6 and 4.3 for the BMH, HH and TH. Effective population size was largest for the BMH with 72.7 effective breeding animals, followed by the HH with 50.9 and TH with 26.5. The most important ten ancestors had genetic contributions to the reference populations of 54.4%, 65.2% and 77.9% in the BMH, HH and TH. The results of our study indicate the need for careful breed management in these highly specialized hound breeds to maintain genetic diversity. European stud books should be established for these dog breeds in order to avoid inbreeding due to missing pedigree records.

  15. The effects of inbreeding, genetic dissimilarity and phenotype on male reproductive success in a dioecious plant

    PubMed Central

    Austerlitz, Frédéric; Gleiser, Gabriela; Teixeira, Sara; Bernasconi, Giorgina

    2012-01-01

    Pollen fate can strongly affect the genetic structure of populations with restricted gene flow and significant inbreeding risk. We established an experimental population of inbred and outbred Silene latifolia plants to evaluate the effects of (i) inbreeding depression, (ii) phenotypic variation and (iii) relatedness between mates on male fitness under natural pollination. Paternity analysis revealed that outbred males sired significantly more offspring than inbred males. Independently of the effects of inbreeding, male fitness depended on several male traits, including a sexually dimorphic (flower number) and a gametophytic trait (in vitro pollen germination rate). In addition, full-sib matings were less frequent than randomly expected. Thus, inbreeding, phenotype and genetic dissimilarity simultaneously affect male fitness in this animal-pollinated plant. While inbreeding depression might threaten population persistence, the deficiency of effective matings between sibs and the higher fitness of outbred males will reduce its occurrence and counter genetic erosion. PMID:21561968

  16. Weather Information Communications (WINCOMM) Overview and Status

    NASA Technical Reports Server (NTRS)

    Martzaklis, K.

    2003-01-01

    The second annual project review of Weather Information Communications (WINCOMM) is presented. The topics of discussion include: 1) In-Flight Weather Information; 2) System Elements; 3) Technology Investment Areas; 4) NAS Information Exchange; 5) FIS Datalink Architecture Analyses; 6) Hybrid FIS Datalink Architecture; 7) FIS Datalink Architecture Analyses; 8) Air Transport: Ground and Satellite-based Datalinks; 9) General Aviation: Ground and Satellite-based Datalinks; 10) Low Altitude AutoMET Reporting; 11) AutoMET: Airborne-based Datalinks; 12) Network Protocols Development; and 13) FAA/NASA Collaboration. A summary of WINCOMM is also included. This paper is in viewgraph form.

  17. Increased Maternal Genome Dosage Bypasses the Requirement of the FIS Polycomb Repressive Complex 2 in Arabidopsis Seed Development

    PubMed Central

    Kradolfer, David; Hennig, Lars; Köhler, Claudia

    2013-01-01

    Seed development in flowering plants is initiated after a double fertilization event with two sperm cells fertilizing two female gametes, the egg cell and the central cell, leading to the formation of embryo and endosperm, respectively. In most species the endosperm is a polyploid tissue inheriting two maternal genomes and one paternal genome. As a consequence of this particular genomic configuration the endosperm is a dosage sensitive tissue, and changes in the ratio of maternal to paternal contributions strongly impact on endosperm development. The FERTILIZATION INDEPENDENT SEED (FIS) Polycomb Repressive Complex 2 (PRC2) is essential for endosperm development; however, the underlying forces that led to the evolution of the FIS-PRC2 remained unknown. Here, we show that the functional requirement of the FIS-PRC2 can be bypassed by increasing the ratio of maternal to paternal genomes in the endosperm, suggesting that the main functional requirement of the FIS-PRC2 is to balance parental genome contributions and to reduce genetic conflict. We furthermore reveal that the AGAMOUS LIKE (AGL) gene AGL62 acts as a dosage-sensitive seed size regulator and that reduced expression of AGL62 might be responsible for reduced size of seeds with increased maternal genome dosage. PMID:23326241

  18. [Fisetin alleviates hypoxia/reoxygenation injury in rat hepatocytes via modulation of TLR4/NF-κB signaling pathway].

    PubMed

    Pu, Junliang; Wan, Lei; Zheng, Daofeng; Wei, Xufu; Wu, Zhongjun; Tang, Chengyong

    2017-07-01

    Objective To investigate the protective effect of fisetin (FIS) against hypoxia/reoxygenation (H/R) injury in rat hepatocytes and its mechanism. Methods H/R injury model of BRL-3A cells was established and the cells were pretreated with FIS. Survival rate was detected by CCK-8 assay. Cell apoptosis was measured by flow cytometry. The levels of ALT and AST were determined by microplate assay. The production of TNF-α and IL-1β were detected by ELISA. The mRNA and protein levels of TLR4 and NF-κBp65 were analyzed by quantitative real-time PCR and Western blotting, respectively. Results After subjected to H/R, cell survival rate decreased and the apoptosis level increased. The levels of ALT and AST in cell supernatant were elevated, so were the production of TNF-α and IL-1β. FIS pretreatment increased the cell survival rate and inhibited apoptosis. The levels of ALT, AST and the production of TNF-α and IL-1β were reduced significantly. Moreover, FIS inhibited the increasing expression levels of TLR4 and NF-κBp65 induced by H/R. Conclusion FIS alleviates the hepatocyte injury induced by H/R via modulation of TLR4/NF-κB signaling pathway.

  19. Non-Equilibrium Superconductivity and Magnetic Pair Breaking in Perovskite Half-Metallic Ferromagnet-Insulator-Superconductor (F-I-S) Heterostructures

    NASA Technical Reports Server (NTRS)

    Fu, C.-C.; Yeh, N.-C.; Samoilov, A. V.; Vakili, K.; Li, Y.; Vasquez, R. P.

    1999-01-01

    The effect of spin-polarized quasiparticle currents on the critical current density (J-c) of cuprate superconductors is studied in perovskite F-I-S heterostructures as a function of insulator thickness and of underlying magnetic materials. A pulsed current technique is employed to minimize extraneous Joule heating on the superconductor. At temperatures near T-c, F-I-S samples with insulator thicknesses\\1e2nm show precipitous decrease in J_c as current injection (I_m) is increased. In contrast, J_c in a controlled sample with a substituted non-magnetic material (N-I-S) exhibit no dependence on I_m. Similarly, a F-I-S sample with a 10 mn insulating barrier also show little J_c effect versus I_m. At low temperatures with I_m = 0, significant suppression of J-c is observed only in the thin barrier F-I-S samples, although T_c and the normal-state resistivity of all samples are comparable. These phenomena can be attributed to the Cooper pair breaking induced by externally-injected and internally-reflected spin-polarized quasiparticle currents. We estimate an order of magnitude range for the spin diffusion length of 100 nm to 100\\ mum.

  20. Severe inbreeding depression and no evidence of purging in an extremely inbred wild species--the Chatham Island black robin.

    PubMed

    Kennedy, Euan S; Grueber, Catherine E; Duncan, Richard P; Jamieson, Ian G

    2014-04-01

    Although evidence of inbreeding depression in wild populations is well established, the impact of genetic purging in the wild remains controversial. The contrasting effects of inbreeding depression, fixation of deleterious alleles by genetic drift, and the purging of deleterious alleles via natural selection mean that predicting fitness outcomes in populations subjected to prolonged bottlenecks is not straightforward. We report results from a long-term pedigree study of arguably the world's most inbred wild species of bird: the Chatham Island black robin Petroica traversi, in which conditions were ideal for purging to occur. Contrary to expectations, black robins showed a strong, negative relationship between inbreeding and juvenile survival, yielding lethal equivalents (2B) of 6.85. We also determined that the negative relationship between inbreeding and survival did not appear to be mediated by levels of ancestral inbreeding and may be attributed in part to unpurged lethal recessives. Although the black robin demographic history provided ideal conditions for genetic purging, our results show no clear evidence of purging in the major life-history trait of juvenile survival. Our results also show no evidence of fixation of deleterious alleles in juvenile survival, but do confirm that continued high levels of contemporary inbreeding in a historically inbred population could lead to additional severe inbreeding depression. © 2013 The Author(s). Evolution © 2013 The Society for the Study of Evolution.

  1. Female-biased dispersal alone can reduce the occurrence of inbreeding in black grouse (Tetrao tetrix).

    PubMed

    Lebigre, C; Alatalo, R V; Siitari, H

    2010-05-01

    Although inbreeding depression and mechanisms for kin recognition have been described in natural bird populations, inbreeding avoidance through mate choice has rarely been reported suggesting that sex-biased dispersal is the main mechanism reducing the risks of inbreeding. However, a full understanding of the effect of dispersal on the occurrence of inbred matings requires estimating the inbreeding risks prior to dispersal. Combining pairwise relatedness measures and kinship assignments, we investigated in black grouse whether the observed occurrence of inbred matings was explained by active kin discrimination or by female-biased dispersal. In this large continuous population, copulations between close relatives were rare. As female mate choice was random for relatedness, females with more relatives in the local flock tended to mate with genetically more similar males. To quantify the initial risks of inbreeding, we measured the relatedness to the males of females captured in their parental flock and virtually translocated female hatchlings in their parental and to more distant flocks. These tests indicated that dispersal decreased the likelihood of mating with relatives and that philopatric females had higher inbreeding risks than the actual breeding females. As females do not discriminate against relatives, the few inbred matings were probably due to the variance in female dispersal propensity and dispersal distance. Our results support the view that kin discrimination mate choice is of little value if dispersal effectively reduces the risks of inbreeding.

  2. Inbreeding and endangered species management: is New Zealand out of step with the rest of the world?

    PubMed

    Jamieson, Ian G; Wallis, Graham P; Briskie, James V

    2006-02-01

    There is growing evidence that inbreeding can negatively affect small, isolated populations. This contrasts with the perception in New Zealand, where it has been claimed that native birds are less affected by inbreeding depression than threatened species from continental regions. It has been argued that New Zealand's terrestrial birds have had a long history of small population size with frequent inbreeding and that this has 'purged" deleterious alleles. The rapid recovery of many tiny and inbred populations after introduced predators have been controlled, and without input from more genetically diverse populations, has further supported the view that inbreeding is not a problem. This has led to a general neglect of inbreeding as a factor in recovery programs for highly endangered species such as the Black Robin (Petroica traversi) and Kakapo (Strigops habroptilis). We examined the reasons for this situation and review the New Zealand evidence for genetic purging. Complete purging of the genetic load and elimination of inbreeding depression are unlikely to occur in natural populations, although partial purging may be more likely where small populations have become inbred over an extended period of time, such as on small isolated islands. Recent molecular data are consistent with the view that island endemics, including New Zealand's threatened birds, have low genetic variation and hence have possibly gone through longer periods of inbreeding than threatened species from continental regions. Nevertheless, results from recent field studies in New Zealand indicate that, despite the opportunity for purging, inbreeding depression is evident in many threatened species. Although inbreeding depression has not prevented some populations from recovering from severe bottlenecks, the long-term consequences of inbreeding and small population size--the loss of genetic variation--are potentially much more insidious. The degrees to which genetic factors reduce population viability generally remain unquantified in New Zealand. Although minimizing ecological risks (e.g., preventing reinvasion of islands by mammalian predators) will continue to receive high priority in New Zealand because of their much larger impacts, we advocate that genetic considerations be better integrated into recovery plans.

  3. Immunization of Mice with Formalin-Inactivated Spores from Avirulent Bacillus cereus Strains Provides Significant Protection from Challenge with Bacillus anthracis Ames

    PubMed Central

    Vergis, James M.; Cote, Christopher K.; Bozue, Joel; Alem, Farhang; Ventura, Christy L.; Welkos, Susan L.

    2013-01-01

    Bacillus anthracis spores are the infectious form of the organism for humans and animals. However, the approved human vaccine in the United States is derived from a vegetative culture filtrate of a toxigenic, nonencapsulated B. anthracis strain that primarily contains protective antigen (PA). Immunization of mice with purified spore proteins and formalin-inactivated spores (FIS) from a nonencapsulated, nontoxigenic B. anthracis strain confers protection against B. anthracis challenge when PA is also administered. To investigate the capacity of the spore particle to act as a vaccine without PA, we immunized mice subcutaneously with FIS from nontoxigenic, nonencapsulated B. cereus strain G9241 pBCXO1−/pBC210− (dcG9241), dcG9241 ΔbclA, or 569-UM20 or with exosporium isolated from dcG9241. FIS vaccination provided significant protection of mice from intraperitoneal or intranasal challenge with spores of the virulent B. anthracis Ames or Ames ΔbclA strain. Immunization with dcG9241 ΔbclA FIS, which are devoid of the immunodominant spore protein BclA, provided greater protection from challenge with either Ames strain than did immunization with FIS from BclA-producing strains. In addition, we used prechallenge immune antisera to probe a panel of recombinant B. anthracis Sterne spore proteins to identify novel immunogenic vaccine candidates. The antisera were variably reactive with BclA and with 10 other proteins, four of which were previously tested as vaccine candidates. Overall our data show that immunization with FIS from nontoxigenic, nonencapsulated B. cereus strains provides moderate to high levels of protection of mice from B. anthracis Ames challenge and that neither PA nor BclA is required for this protection. PMID:23114705

  4. A Plant Gene Up-Regulated at Rust Infection Sites

    PubMed Central

    Ayliffe, Michael A.; Roberts, James K.; Mitchell, Heidi J.; Zhang, Ren; Lawrence, Gregory J.; Ellis, Jeffrey G.; Pryor, Tony J.

    2002-01-01

    Expression of the fis1 gene from flax (Linum usitatissimum) is induced by a compatible rust (Melampsora lini) infection. Infection of transgenic plants containing a β-glucuronidase (GUS) reporter gene under the control of the fis1 promoter showed that induction is highly localized to those leaf mesophyll cells within and immediately surrounding rust infection sites. The level of induction reflects the extent of fungal growth. In a strong resistance reaction, such as the hypersensitive fleck mediated by the L6 resistance gene, there is very little fungal growth and a microscopic level of GUS expression. Partially resistant flax leaves show levels of GUS expression that were intermediate to the level observed in the fully susceptible infection. Sequence and deletion analysis using both transient Agrobacterium tumefaciens expression and stable transformation assays have shown that the rust-inducible fis1 promoter is contained within a 580-bp fragment. Homologs of fis1 were identified in expressed sequence tag databases of a range of plant species including dicots, monocots, and a gymnosperm. Homologous genes isolated from maize (Zea mays; mis1), barley (Hordeum vulgare; bis1), wheat (Triticum aestivum; wis1), and Arabidopsis encode proteins that are highly similar (76%–82%) to the FIS1 protein. The Arabidopsis homologue has been reported to encode a Δ1-pyrroline-5-carboxylate dehydrogenase that is involved in the catabolism of proline to glutamate. RNA-blot analysis showed that mis1 in maize and the bis1 homolog in barley are both up-regulated by a compatible infection with the corresponding species-specific rust. The rust-induced genes homologous to fis1 are present in many plants. The promoters of these genes have potential roles for the engineering of synthetic rust resistance genes by targeting transgene expression to the sites of rust infection. PMID:12011348

  5. Studying the consumption and health outcomes of fiscal interventions (taxes and subsidies) on food and beverages in countries of different income classifications; a systematic review.

    PubMed

    Alagiyawanna, Amaap; Townsend, Nick; Mytton, Oli; Scarborough, Pete; Roberts, Nia; Rayner, Mike

    2015-09-14

    Governments use fiscal interventions (FIs) on food and beverages to encourage healthy food behaviour and positive health outcomes. The objective of this review was to study the behavioural and health outcomes of implemented food and beverage FIs in the form of taxes and subsidies in countries of different income classifications. The present systematic review was conducted in accordance with Cochrane protocols. The search was carried out on academic and grey literature in English, for studies conducted in different countries on implemented FIs on food and non-alcoholic beverages and health outcomes, with a special focus on the income of those countries. Eighteen studies met the inclusion criteria and 14 were from peer- reviewed journals. Thirteen studies came from high-income (HI) countries, four from upper middle-income (UMI) countries and only one came from a lower middle-income (LMI) country. There were no studies from lower-income (LI) countries. Of these 18 studies; nine focused on taxes, all of which were from HI countries. Evidence suggests that FIs on foods can influence consumption of taxed and subsidized foods and consequently have the potential to improve health. Although this review supports previous findings that FIs can have an impact on healthy food consumption, it also highlights the lack of evidence available from UMI, LMI and LI countries on such interventions. Therefore, evidence from HI countries may not be directly applicable to middle-income and LI countries. Similar research conducted in middle and low income countries will be beneficial in advocating policy makers on the effectiveness of FIs in countering the growing issues of non-communicable diseases in these countries.

  6. A field evaluation of data link flight information services for general aviation pilots

    DOT National Transportation Integrated Search

    1997-02-01

    This report documents a field study of Data Link Flight Information Services : (FIS) designed for use by general aviation (GA) pilots. The Data Link FIS : package that was evaluated in this study included the Traffic Information : Service (TIS), Text...

  7. 77 FR 56669 - Proposed Flood Hazard Determinations

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-09-13

    ...Comments are requested on proposed flood hazard determinations, which may include additions or modifications of any Base Flood Elevation (BFE), base flood depth, Special Flood Hazard Area (SFHA) boundary or zone designation, or regulatory floodway on the Flood Insurance Rate Maps (FIRMs), and where applicable, in the supporting Flood Insurance Study (FIS) reports for the communities listed in the table below. The purpose of this notice is to seek general information and comment regarding the preliminary FIRM, and where applicable, the FIS report that the Federal Emergency Management Agency (FEMA) has provided to the affected communities. The FIRM and FIS report are the basis of the floodplain management measures that the community is required either to adopt or to show evidence of having in effect in order to qualify or remain qualified for participation in the National Flood Insurance Program (NFIP). In addition, the FIRM and FIS report, once effective, will be used by insurance agents and others to calculate appropriate flood insurance premium rates for new buildings and the contents of those buildings.

  8. Effects of inbreeding and temperature stress on life history and immune function in a butterfly.

    PubMed

    Franke, K; Fischer, K

    2013-03-01

    Theory predicts that inbreeding depression should be more pronounced under environmental stress due to an increase in the expression of recessive deleterious alleles. If so, inbred populations may be especially vulnerable to environmental change. Against this background, we here investigate effects of inbreeding, temperature stress and its interactions with inbreeding in the tropical butterfly Bicyclus anynana. We use a full-factorial design with three levels of inbreeding (F = 0/0.25/0.38) and three temperature treatments (2 h exposure to 1, 27 or 39 °C). Despite using relatively low levels of inbreeding significant inbreeding depression was found in pupal mass, pupal time, thorax mass, abdomen fat content, egg hatching success and fecundity. However, stress resistance traits (heat tolerance, immune function) were not affected by inbreeding and interactions with temperature treatments were virtually absent. We thus found no support for an increased sensitivity of inbred individuals to environmental stress, and suspect that such patterns are restricted to harsher conditions. Our temperature treatments evidently imposed stress, significantly reducing longevity, fecundity, egg hatching success and haemocyte numbers, while fat content, protein content and lysozyme activity remained unaffected. Males and females differed in all traits measured except pupal time, protein content and phenoloxidase (PO) activity. Correlation analyses revealed, among others, a trade-off between PO and lysozyme activity, and negative correlations between fat content and several other traits. We stress that more data are needed on the effects of inbreeding, temperature variation and sexual differences on insect immune function before more general conclusions can be drawn. © 2012 The Authors. Journal of Evolutionary Biology © 2012 European Society For Evolutionary Biology.

  9. Environmental variation influences the magnitude of inbreeding depression in Cucurbita pepo ssp. texana (Cucurbitaceae).

    PubMed

    Hayes, C Nelson; Winsor, James A; Stephenson, Andrew G

    2005-01-01

    We grew inbred and outcrossed Cucurbita pepo ssp. texana plants and measured inbreeding depression for several male and female fitness traits 4 years in a row in adjacent fields at the same field station under the same cultivation conditions. We found that the magnitude of inbreeding depression varied from 0.16 to 0.53 from year to year and that those traits which were most affected tended to vary with year. We also grew inbred and outcrossed C. pepo ssp. texana plants in two adjacent fields differing only in the presence of nitrogen fertilizer to examine the effect of nutrient limitation as a form of environmental stress on the magnitude of inbreeding depression. We found that inbreeding depression was more severe in the unfertilized field. Overall, this study illustrates the notion that any estimate of inbreeding depression represents a single point in a cluster of possible estimates that can vary (often dramatically) with growing conditions.

  10. Fluctuating asymmetry and fractal dimension of the sagittal suture as indicators of inbreeding depression in dama and dorcas gazelles

    USGS Publications Warehouse

    Alados, Concepcion L.; Escos, Juan; Emlen, John M.

    1995-01-01

    The effects of inbreeding on the developmental instability of skulls of dorcas (Gazella dorcas) and dama (G. dama) gazelles were investigated. In total, 132 dorcas gazelle skulls and 74 dama gazelle skulls from the Estación Experimental de Zonas Aridas in Almera, Spain, were measured. The fluctuating asymmetry of 9 meristic characters, consisting of the numbers of foramina on the two sides of the skull and mandible, was calculated. Although only the foramen infraorbitalis showed a significant increase in asymmetry with inbreeding in dorcas gazelles, the sum of the foramina in 5 of the skull regions clearly indicates an increase in asymmetry with inbreeding in both dorcas and dama gazelles. The fractal dimension of the sagittal suture was calculated by means of the coastline method. A greater effect of inbreeding on the sagittal suture in dama than in dorcas gazelle was observed, in concordance with the more evident deleterious effects of inbreeding depression in dama than in dorcas gazelles.

  11. 78 FR 78993 - Proposed Flood Elevation Determinations

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-12-27

    ... DEPARTMENT OF HOMELAND SECURITY Federal Emergency Management Agency [Docket ID FEMA-2013-0002... Insurance Study (FIS) report for each community are available for inspection at both the online location and... effective FIRM and FIS report for each community are accessible online through the FEMA Map Service Center...

  12. Consanguineous marriage in an urban area of Saudi Arabia: rates and adverse health effects on the offspring.

    PubMed

    al-Abdulkareem, A A; Ballal, S G

    1998-02-01

    The objective of this cross-sectional study was to determine the pattern and time trend of consanguineous marriage and its adverse health effects on the offspring in Dammam city, Eastern Province, in the Kingdom of Saudi Arabia. This city is known to attract Saudis from different parts of the country because it is in the heart of this industrial region. Five primary health care centers were randomly selected from different sectors of the city in addition to the city's only Maternity and Children's Hospital. For inclusion in the study a wife must have at least one pregnancy that terminated in either full term liveborn baby, still birth, or abortion. A total of 1307 ever-married Saudis completed a pre-structured questionnaire during an interview. The rate of consanguineous marriage was 52.0% with an average inbreeding coefficient of 0.0312. First-cousin marriages were the commonest (39.3%) of all matings. The consanguineous groups had a significantly higher number of pregnancies. The mean birth weight of the offspring of consanguineous couples was not statistically significant being less than that of the non-consanguineous. However, within the consanguineous groups the more closely related couples had smaller babies on average. No significant differences were noted for the rates of inherited diseases and reproductive wastage. The rate of consanguineous marriage in this city was high and so was the inbreeding coefficient. These figures place this nation among the countries with a high rate of consanguineous marriages. A nationwide study to determine accurately the relationship between consanguinity and inherited diseases has much to commend it.

  13. Force-driven unbinding of proteins HU and Fis from DNA quantified using a thermodynamic Maxwell relation

    PubMed Central

    Xiao, Botao; Zhang, Houyin; Johnson, Reid C.; Marko, John F.

    2011-01-01

    Determining numbers of proteins bound to large DNAs is important for understanding their chromosomal functions. Protein numbers may be affected by physical factors such as mechanical forces generated in DNA, e.g. by transcription or replication. We performed single-DNA stretching experiments with bacterial nucleoid proteins HU and Fis, verifying that the force–extension measurements were in thermodynamic equilibrium. We, therefore, could use a thermodynamic Maxwell relation to deduce the change of protein number on a single DNA due to varied force. For the binding of both HU and Fis under conditions studied, numbers of bound proteins decreased as force was increased. Our experiments showed that most of the bound HU proteins were driven off the DNA at 6.3 pN for HU concentrations lower than 150 nM; our HU data were fit well by a statistical-mechanical model of protein-induced bending of DNA. In contrast, a significant amount of Fis proteins could not be forced off the DNA at forces up to 12 pN and Fis concentrations up to 20 nM. This thermodynamic approach may be applied to measure changes in numbers of a wide variety of molecules bound to DNA or other polymers. Force-dependent DNA binding by proteins suggests mechano-chemical mechanisms for gene regulation. PMID:21427084

  14. Identification of new members of Fertilisation Independent Seed Polycomb Group pathway involved in the control of seed development in Arabidopsis thaliana.

    PubMed

    Guitton, Anne-Elisabeth; Page, Damian R; Chambrier, Pierre; Lionnet, Claire; Faure, Jean-Emmanuel; Grossniklaus, Ueli; Berger, Frédéric

    2004-06-01

    In higher plants, double fertilisation initiates seed development. One sperm cell fuses with the egg cell and gives rise to the embryo, the second sperm cell fuses with the central cell and gives rise to the endosperm. The endosperm develops as a syncytium with the gradual organisation of domains along an anteroposterior axis defined by the position of the embryo at the anterior pole and by the attachment to the placenta at the posterior pole. We report that ontogenesis of the posterior pole in Arabidopsis thaliana involves oriented migration of nuclei in the syncytium. We show that this migration is impaired in mutants of the three founding members of the FERTILIZATION INDEPENDENT SEED (FIS) class, MEDEA (MEA), FIS2 and FERTILIZATION INDEPENDENT ENDOSPERM (FIE). A screen based on a green fluorescent protein (GFP) reporter line allowed us to identify two new loci in the FIS pathway, medicis and borgia. We have cloned the MEDICIS gene and show that it encodes the Arabidopsis homologue of the yeast WD40 domain protein MULTICOPY SUPRESSOR OF IRA (MSI1). The mutations at the new fis loci cause the same cellular defects in endosperm development as other fis mutations, including parthenogenetic development, absence of cellularisation, ectopic development of posterior structures and overexpression of the GFP marker.

  15. Timely binding of IHF and Fis to DARS2 regulates ATP–DnaA production and replication initiation

    PubMed Central

    Kasho, Kazutoshi; Fujimitsu, Kazuyuki; Matoba, Toshihiro; Oshima, Taku; Katayama, Tsutomu

    2014-01-01

    In Escherichia coli, the ATP-bound form of DnaA (ATP–DnaA) promotes replication initiation. During replication, the bound ATP is hydrolyzed to ADP to yield the ADP-bound form (ADP–DnaA), which is inactive for initiation. The chromosomal site DARS2 facilitates the regeneration of ATP–DnaA by catalyzing nucleotide exchange between free ATP and ADP bound to DnaA. However, the regulatory mechanisms governing this exchange reaction are unclear. Here, using in vitro reconstituted experiments, we show that two nucleoid-associated proteins, IHF and Fis, bind site-specifically to DARS2 to activate coordinately the exchange reaction. The regenerated ATP–DnaA was fully active in replication initiation and underwent DnaA–ATP hydrolysis. ADP–DnaA formed heteromultimeric complexes with IHF and Fis on DARS2, and underwent nucleotide dissociation more efficiently than ATP–DnaA. Consistently, mutant analyses demonstrated that specific binding of IHF and Fis to DARS2 stimulates the formation of ATP–DnaA production, thereby promoting timely initiation. Moreover, we show that IHF–DARS2 binding is temporally regulated during the cell cycle, whereas Fis only binds to DARS2 in exponentially growing cells. These results elucidate the regulation of ATP–DnaA and replication initiation in coordination with the cell cycle and growth phase. PMID:25378325

  16. Academic Inbreeding: Local Challenge, Global Problem

    ERIC Educational Resources Information Center

    Altbach, Philip G.; Yudkevich, Maria; Rumbley, Laura E.

    2015-01-01

    "Academic inbreeding"--involving the appointment of faculty members who graduated from the institution employing them--is considered a small and peripheral aspect of the academic profession but is quite widespread globally. This paper analyzes the nature of inbreeding and its impact on universities. Data from eight countries where…

  17. Academic Inbreeding and Publication Activities of Russian Faculty

    ERIC Educational Resources Information Center

    Alipova, Olga; Lovakov, Andrey

    2018-01-01

    The literature on the consequences of academic inbreeding shows ambiguous results: some papers show that inbreeding positively influences research productivity measured by the quantity and quality of publications, while others demonstrate the opposite effect. There are contradictory results both in the studies of different countries and within…

  18. Inferring recent outcrossing rates using multilocus individual heterozygosity: application to evolving wheat populations.

    PubMed Central

    Enjalbert, J; David, J L

    2000-01-01

    Using multilocus individual heterozygosity, a method is developed to estimate the outcrossing rates of a population over a few previous generations. Considering that individuals originate either from outcrossing or from n successive selfing generations from an outbred ancestor, a maximum-likelihood (ML) estimator is described that gives estimates of past outcrossing rates in terms of proportions of individuals with different n values. Heterozygosities at several unlinked codominant loci are used to assign n values to each individual. This method also allows a test of whether populations are in inbreeding equilibrium. The estimator's reliability was checked using simulations for different mating histories. We show that this ML estimator can provide estimates of outcrossing rates for the final generation outcrossing rate (t(0)) and a mean of the preceding rates (t(p)) and can detect major temporal variation in the mating system. The method is most efficient for low to intermediate outcrossing levels. Applied to nine populations of wheat, this method gave estimates of t(0) and t(p). These estimates confirmed the absence of outcrossing t(0) = 0 in the two populations subjected to manual selfing. For free-mating wheat populations, it detected lower final generation outcrossing rates t(0) = 0-0.06 than those expected from global heterozygosity t = 0.02-0.09. This estimator appears to be a new and efficient way to describe the multilocus heterozygosity of a population, complementary to Fis and progeny analysis approaches. PMID:11102388

  19. A novel assessment of population structure and gene flow in grey wolf populations of the Northern Rocky Mountains of the United States.

    PubMed

    vonHoldt, Bridgett M; Stahler, Daniel R; Bangs, Edward E; Smith, Douglas W; Jimenez, Mike D; Mack, Curt M; Niemeyer, Carter C; Pollinger, John P; Wayne, Robert K

    2010-10-01

    The successful re-introduction of grey wolves to the western United States is an impressive accomplishment for conservation science. However, the degree to which subpopulations are genetically structured and connected, along with the preservation of genetic variation, is an important concern for the continued viability of the metapopulation. We analysed DNA samples from 555 Northern Rocky Mountain wolves from the three recovery areas (Greater Yellowstone Area, Montana, and Idaho), including all 66 re-introduced founders, for variation in 26 microsatellite loci over the initial 10-year recovery period (1995-2004). The population maintained high levels of variation (H(O) = 0.64-0.72; allelic diversity k=7.0-10.3) with low levels of inbreeding (F(IS) < 0.03) and throughout this period, the population expanded rapidly (n(1995) =101; n(2004) =846). Individual-based Bayesian analyses revealed significant population genetic structure and identified three subpopulations coinciding with designated recovery areas. Population assignment and migrant detection were difficult because of the presence of related founders among different recovery areas and required a novel approach to determine genetically effective migration and admixture. However, by combining assignment tests, private alleles, sibship reconstruction, and field observations, we detected genetically effective dispersal among the three recovery areas. Successful conservation of Northern Rocky Mountain wolves will rely on management decisions that promote natural dispersal dynamics and minimize anthropogenic factors that reduce genetic connectivity. © 2010 Blackwell Publishing Ltd.

  20. Quantification of the genetic change in the transition of Rhodnius pallescens Barber, 1932 (Hemiptera: Reduviidae) from field to laboratory.

    PubMed

    Gómez-Sucerquia, Leysa Jackeline; Triana-Chávez, Omar; Jaramillo-Ocampo, Nicolás

    2009-09-01

    Previous studies have reported genetic differences between wild-caught sylvatic, domestic and laboratory pop-ulations of several Triatominae species. The differences between sylvatic and laboratory colonies parallel are similar to the differences observed between sylvatic and domestic populations. Laboratory colonies are frequently used as references for field populations, but the consequences of founder events on the genetic makeup of laboratory or domestic populations are rarely quantified. Our goal was to quantify the genetic change in Rhodnius pallescens populations artificially submitted to founder effects via laboratory colonization. We compared the genetic makeup of two sylvatic populations and their laboratory descendants using a panel of 10 microsatellite markers. Both sylvatic populations were initially collected from palm trees, but the colonies differed in the number of founder insects and amount of time kept in the laboratory. We evaluated allelic polymorphism, differences between expected and observed heterozygosity, estimates of population differentiation (Fst) and inbreeding (Fis, Fit) and cluster analyses based on Nei's distances. We found a unique genetic structure for each sample population, with significant differentiation between the field insects and each of the laboratory generations. These analyses showed strong founder effects and showed that genetic drift had led to a genetic equilibrium over several generations of isolation. Our results suggest that laboratory colonies of R. pallescens have a different genetic structure than their wild relatives and similar processes likely affect other Triatominae laboratory stocks.

  1. Analysis of population genetic structure and gene flow in an annual plant before and after a rapid evolutionary response to drought.

    PubMed

    Welt, Rachel S; Litt, Amy; Franks, Steven J

    2015-03-27

    The impact of environmental change on population structure is not well understood. This study aimed to examine the effect of a climate change event on gene flow over space and time in two populations of Brassica rapa that evolved more synchronous flowering times over 5 years of drought in southern California. Using plants grown from seeds collected before and after the drought, we estimated genetic parameters within and between populations and across generations. We expected that with greater temporal opportunity to cross-pollinate, due to reduced phenological isolation, these populations would exhibit an increase in gene flow following the drought. We found low but significant FST, but no change in FST or Nm across the drought, in contrast to predictions. Bayesian analysis of these data indicates minor differentiation between the two populations but no noticeable change in structure before and after the shift in flowering times. However, we found high and significant levels of FIS, indicating that inbreeding likely occurred in these populations despite self-incompatibility in B. rapa. In this system, we did not find an impact of climate change on gene flow or population structuring. The contribution of gene flow to adaptive evolution may vary by system, however, and is thus an important parameter to consider in further studies of natural responses to environmental change. Published by Oxford University Press on behalf of the Annals of Botany Company.

  2. 78 FR 20338 - Final Flood Hazard Determinations

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-04

    ... Insurance Study (FIS) reports have been made final for the communities listed in the table below. The FIRM and FIS report are the basis of the floodplain management measures that a community is required either... showing the new or modified flood hazard information for each community. ADDRESSES: The FIRM, and if...

  3. 77 FR 27076 - Proposed Flood Hazard Determinations

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-08

    ... (FIS) reports for the communities listed in the table below. The purpose of this notice is to seek... the Federal Emergency Management Agency (FEMA) has provided to the affected communities. The FIRM and FIS report are the basis of the floodplain management measures that the community is required either...

  4. Kin encounter rate and inbreeding avoidance in canids

    USGS Publications Warehouse

    Geffen, Eli; Kam, Michael; Hefner, Reuven; Hersteinsson, Pall; Angerbjorn, Anders; Dalen, Love; Fuglei, Eva; Noren, Karin; Adams, Jennifer R.; Vicetich, John; Meier, Thomas J.; Mech, L.D.; VonHoldt, Bridgett M.; Stahler, Daniel R.; Wayne, Robert K.

    2011-01-01

    Mating with close kin can lead to inbreeding depression through the expression of recessive deleterious alleles and loss of heterozygosity. Mate selection may be affected by kin encounter rate, and inbreeding avoidance may not be uniform but associated with age and social system. Specifically, selection for kin recognition and inbreeding avoidance may be more developed in species that live in family groups or breed cooperatively. To test this hypothesis, we compared kin encounter rate and the proportion of related breeding pairs in noninbred and highly inbred canid populations. The chance of randomly encountering a full sib ranged between 1–8% and 20–22% in noninbred and inbred canid populations, respectively. We show that regardless of encounter rate, outside natal groups mates were selected independent of relatedness. Within natal groups, there was a significant avoidance of mating with a relative. Lack of discrimination against mating with close relatives outside packs suggests that the rate of inbreeding in canids is related to the proximity of close relatives, which could explain the high degree of inbreeding depression observed in some populations. The idea that kin encounter rate and social organization can explain the lack of inbreeding avoidance in some species is intriguing and may have implications for the management of populations at risk.

  5. Mitigation of inbreeding while preserving genetic gain in genomic breeding programs for outbred plants.

    PubMed

    Lin, Zibei; Shi, Fan; Hayes, Ben J; Daetwyler, Hans D

    2017-05-01

    Heuristic genomic inbreeding controls reduce inbreeding in genomic breeding schemes without reducing genetic gain. Genomic selection is increasingly being implemented in plant breeding programs to accelerate genetic gain of economically important traits. However, it may cause significant loss of genetic diversity when compared with traditional schemes using phenotypic selection. We propose heuristic strategies to control the rate of inbreeding in outbred plants, which can be categorised into three types: controls during mate allocation, during selection, and simultaneous selection and mate allocation. The proposed mate allocation measure GminF allocates two or more parents for mating in mating groups that minimise coancestry using a genomic relationship matrix. Two types of relationship-adjusted genomic breeding values for parent selection candidates ([Formula: see text]) and potential offspring ([Formula: see text]) are devised to control inbreeding during selection and even enabling simultaneous selection and mate allocation. These strategies were tested in a case study using a simulated perennial ryegrass breeding scheme. As compared to the genomic selection scheme without controls, all proposed strategies could significantly decrease inbreeding while achieving comparable genetic gain. In particular, the scenario using [Formula: see text] in simultaneous selection and mate allocation reduced inbreeding to one-third of the original genomic selection scheme. The proposed strategies are readily applicable in any outbred plant breeding program.

  6. Kin encounter rate and inbreeding avoidance in canids

    USGS Publications Warehouse

    Geffen, E.; Kam, M.; Hefner, R.; Hersteinsson, P.; Angerbjorn, A.; Dalen, L.; Fuglei, E.; Noren, K.; Adams, J.R.; Vucetich, J.; Meier, T.J.; Mech, L.D.; Vonholdt, B.M.; Stahler, D.R.; Wayne, R.K.

    2011-01-01

    Mating with close kin can lead to inbreeding depression through the expression of recessive deleterious alleles and loss of heterozygosity. Mate selection may be affected by kin encounter rate, and inbreeding avoidance may not be uniform but associated with age and social system. Specifically, selection for kin recognition and inbreeding avoidance may be more developed in species that live in family groups or breed cooperatively. To test this hypothesis, we compared kin encounter rate and the proportion of related breeding pairs in noninbred and highly inbred canid populations. The chance of randomly encountering a full sib ranged between 1-8% and 20-22% in noninbred and inbred canid populations, respectively. We show that regardless of encounter rate, outside natal groups mates were selected independent of relatedness. Within natal groups, there was a significant avoidance of mating with a relative. Lack of discrimination against mating with close relatives outside packs suggests that the rate of inbreeding in canids is related to the proximity of close relatives, which could explain the high degree of inbreeding depression observed in some populations. The idea that kin encounter rate and social organization can explain the lack of inbreeding avoidance in some species is intriguing and may have implications for the management of populations at risk. ?? 2011 Blackwell Publishing Ltd.

  7. Relationships among walleye population characteristics and genetic diversity in northern Wisconsin Lakes

    USGS Publications Warehouse

    Waterhouse, Matthew D.; Sloss, Brian L.; Isermann, Daniel A.

    2014-01-01

    The maintenance of genetic integrity is an important goal of fisheries management, yet little is known regarding the effects of management actions (e.g., stocking, harvest regulations) on the genetic diversity of many important fish species. Furthermore, relationships between population characteristics and genetic diversity remain poorly understood. We examined relationships among population demographics (abundance, recruitment, sex ratio, and mean age of the breeding population), stocking intensity, and genetic characteristics (heterozygosity, effective number of alleles, allelic richness, Wright's inbreeding coefficient, effective population size [Ne], mean d2 [a measure of inbreeding], mean relatedness, and pairwise population ΦST estimates) for 15 populations of Walleye Sander vitreus in northern Wisconsin. We also tested for potential demographic and genetic influences on Walleye body condition and early growth. Combinations of demographic variables explained 47.1–79.8% of the variation in genetic diversity. Skewed sex ratios contributed to a reduction in Ne and subsequent increases in genetic drift and relatedness among individuals within populations; these factors were correlated to reductions in allelic richness and early growth rate. Levels of inbreeding were negatively related to both age-0 abundance and mean age, suggesting Ne was influenced by recruitment and generational overlap. A negative relationship between the effective number of alleles and body condition suggests stocking affected underlying genetic diversity of recipient populations and the overall productivity of the population. These relationships may result from poor performance of stocked fish, outbreeding depression, or density-dependent factors. An isolation-by-distance pattern of genetic diversity was apparent in nonstocked populations, but was disrupted in stocked populations, suggesting that stocking affected genetic structure. Overall, demographic factors were related to genetic diversity and stocking appeared to alter allelic frequencies and the genetic structure of Walleye populations in Wisconsin, possibly resulting in disruption of local adaptation.

  8. Molecular and pedigree analysis applied to conservation of animal genetic resources: the case of Brazilian Somali hair sheep.

    PubMed

    Paiva, Samuel R; Facó, Olivardo; Faria, Danielle A; Lacerda, Thaísa; Barretto, Gabriel B; Carneiro, Paulo L S; Lobo, Raimundo N B; McManus, Concepta

    2011-10-01

    The first registers of Somali sheep in Brazil are from the beginning of the 1900s. This breed, adapted to the dry climate and scarce food supply, is restricted in the northeast region of the country. Molecular marker technologies, especially those based on genotyping microsatellite and mtDNA loci, can be used in conjunction with breeding (pedigree analysis) and consequently the maintenance of genetic variation in herds. Animals from the Brazilian Somali Conservation Nuclei from Embrapa Sheep and Goats in Ceará State were used to validate genetic monitoring by traditional pedigree methods and molecular markers. Nineteen microsatellite markers and 404 base pairs from the control region of mtDNA were used. For total herd diversity, an average 5.32 alleles were found, with expected heterozygosity of 0.5896, observed heterozygosity of 0.6451, 0.4126 for molecular coancestrality, and coefficient of inbreeding (F (IS)) was -0.095. Comparing molecular coancestrality means over the years, there was a consistent increase in this parameter within the herd, increasing from 0.4157 to 0.4769 in 2 years (approx. 12% variation). Sixteen mtDNA haplotypes were identified. Inbreeding and other estimates from genealogical analyses confirm the results from molecular markers. From these results, it is possible to state that microsatellites are useful tools in genetic management of herds, especially when routine herd recording is not carried out, or there were gaps in recent generations. As well as pedigree control, genetic diversity can be optimized. Based on the results, and despite herd recording in the herd of Brazilian Somali of Embrapa Sheep and Goats, additional management measures need to be carried out in this herd to reduce inbreeding and optimize genetic variation.

  9. Allele frequency changes due to hitch-hiking in genomic selection programs

    PubMed Central

    2014-01-01

    Background Genomic selection makes it possible to reduce pedigree-based inbreeding over best linear unbiased prediction (BLUP) by increasing emphasis on own rather than family information. However, pedigree inbreeding might not accurately reflect loss of genetic variation and the true level of inbreeding due to changes in allele frequencies and hitch-hiking. This study aimed at understanding the impact of using long-term genomic selection on changes in allele frequencies, genetic variation and level of inbreeding. Methods Selection was performed in simulated scenarios with a population of 400 animals for 25 consecutive generations. Six genetic models were considered with different heritabilities and numbers of QTL (quantitative trait loci) affecting the trait. Four selection criteria were used, including selection on own phenotype and on estimated breeding values (EBV) derived using phenotype-BLUP, genomic BLUP and Bayesian Lasso. Changes in allele frequencies at QTL, markers and linked neutral loci were investigated for the different selection criteria and different scenarios, along with the loss of favourable alleles and the rate of inbreeding measured by pedigree and runs of homozygosity. Results For each selection criterion, hitch-hiking in the vicinity of the QTL appeared more extensive when accuracy of selection was higher and the number of QTL was lower. When inbreeding was measured by pedigree information, selection on genomic BLUP EBV resulted in lower levels of inbreeding than selection on phenotype BLUP EBV, but this did not always apply when inbreeding was measured by runs of homozygosity. Compared to genomic BLUP, selection on EBV from Bayesian Lasso led to less genetic drift, reduced loss of favourable alleles and more effectively controlled the rate of both pedigree and genomic inbreeding in all simulated scenarios. In addition, selection on EBV from Bayesian Lasso showed a higher selection differential for mendelian sampling terms than selection on genomic BLUP EBV. Conclusions Neutral variation can be shaped to a great extent by the hitch-hiking effects associated with selection, rather than just by genetic drift. When implementing long-term genomic selection, strategies for genomic control of inbreeding are essential, due to a considerable hitch-hiking effect, regardless of the method that is used for prediction of EBV. PMID:24495634

  10. Consanguineous marriage in PR China: a study in rural Man (Manchu) communities.

    PubMed

    Wang, W; Qian, Cong; Bittles, A H

    2002-01-01

    Although there is a long history of consanguineous marriage in China, information on its prevalence is very limited. The Man (Qing) dynasty ruled China for over 250 years, but no consanguinity studies have been reported on this important population. The objective of the present investigation was to determine the present-day level of consanguineous marriage in the Man community, and to compare the data with existing consanguinity information on other Chinese populations. The study was conducted in a group of 11 rural Man communities in the north-eastern Chinese province of Liaoning. Household-based interviews were conducted by local staff on 513 couples, 418 of whom were Man with another 95 Man-Han inter-ethnic marriages. Basic pedigrees were constructed to determine the biological relationship between each set of spouses. Thirty of the 418 couples were in a consanguineous union, with a mean coefficient of inbreeding alpha = 0.0012. The small population sizes of the study may have contributed to the spatial variation in the patterns of inbreeding. Across generations there was a reduction in consanguineous marriages and an increase in inter-ethnic unions, which paralleled changes in civil marriage regulations.

  11. Investigating Inbreeding Depression for Heat Stress Tolerance in the Model Organism "Drosophila Melanogaster"

    ERIC Educational Resources Information Center

    Pedersen, Kamilla Sofie; Pedersen, Louise Dybdahl; Sorensen, Anders Christian; Nielsen, Anna Busch; Kristensen, Torsten Nygaard

    2012-01-01

    Mating between closely related individuals often causes reduced fitness, which is termed "inbreeding depression". Inbreeding is, therefore, a threat towards the persistence of animal and plant populations. Here we present methods and results from a practical for high-school and first-year university students and discuss learning outcomes…

  12. 75 FR 20399 - Submission for Review: Declaration for Federal Employment, OF 306, 3206-0182

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-19

    ... documentation, may be obtained by contacting FIS, OPM, 1900 E Street, NW., Washington, DC 20503, Attention: Lisa..., mechanical, or other technological collection techniques or other forms of information technology, e.g... are invited to submit written comments on the proposed information collection to FIS, OPM, 1900 E...

  13. Food Insecurity and Rural Adolescent Personal Health, Home, and Academic Environments

    ERIC Educational Resources Information Center

    Shanafelt, Amy; Hearst, Mary O.; Wang, Qi; Nanney, Marilyn S.

    2016-01-01

    Background: Food-insecure (FIS) adolescents struggle in school and with health and mental health more often than food-secure (FS) adolescents. Rural communities experience important disparities in health, but little is known about rural FIS adolescents. This study aims to describe select characteristics of rural adolescents by food-security…

  14. Abrupt drainage cycles of the Fennoscandian Ice Sheet

    PubMed Central

    Soulet, Guillaume; Ménot, Guillemette; Bayon, Germain; Rostek, Frauke; Ponzevera, Emmanuel; Toucanne, Samuel; Lericolais, Gilles; Bard, Edouard

    2013-01-01

    Continental ice sheets are a key component of the Earth’s climate system, but their internal dynamics need to be further studied. Since the last deglaciation, the northern Eurasian Fennoscandian Ice Sheet (FIS) has been connected to the Black Sea (BS) watershed, making this basin a suitable location to investigate former ice-sheet dynamics. Here, from a core retrieved in the BS, we combine the use of neodymium isotopes, high-resolution elemental analysis, and biomarkers to trace changes in sediment provenance and river runoff. We reveal cyclic releases of meltwater originating from Lake Disna, a proglacial lake linked to the FIS during Heinrich Stadial 1. Regional interactions within the climate–lake–FIS system, linked to changes in the availability of subglacial water, led to abrupt drainage cycles of the FIS into the BS watershed. This phenomenon raised the BS water level by ∼100 m until the sill of the Bosphorus Strait was reached, flooding the vast northwestern BS shelf and deeply affecting the hydrology and circulation of the BS and, probably, of the Marmara and Aegean Seas. PMID:23569264

  15. Improved methods for the determination of drying conditions and fraction insoluble solids (FIS) in biomass pretreatment slurry

    DOE PAGES

    Sluiter, Amie; Sluiter, Justin; Wolfrum, Ed; ...

    2016-05-20

    Accurate and precise chemical characterization of biomass feedstocks and process intermediates is a requirement for successful technical and economic evaluation of biofuel conversion technologies. The uncertainty in primary measurements of the fraction insoluble solid (FIS) content of dilute acid pretreated corn stover slurry is the major contributor to uncertainty in yield calculations for enzymatic hydrolysis of cellulose to glucose. This uncertainty is propagated through process models and impacts modeled fuel costs. The challenge in measuring FIS is obtaining an accurate measurement of insoluble matter in the pretreated materials, while appropriately accounting for all biomass derived components. Three methods were testedmore » to improve this measurement. One used physical separation of liquid and solid phases, and two utilized direct determination of dry matter content in two fractions. We offer a comparison of drying methods. Lastly, our results show utilizing a microwave dryer to directly determine dry matter content is the optimal method for determining FIS, based on the low time requirements and the method optimization done using model slurries.« less

  16. Abrupt drainage cycles of the Fennoscandian Ice Sheet.

    PubMed

    Soulet, Guillaume; Ménot, Guillemette; Bayon, Germain; Rostek, Frauke; Ponzevera, Emmanuel; Toucanne, Samuel; Lericolais, Gilles; Bard, Edouard

    2013-04-23

    Continental ice sheets are a key component of the Earth's climate system, but their internal dynamics need to be further studied. Since the last deglaciation, the northern Eurasian Fennoscandian Ice Sheet (FIS) has been connected to the Black Sea (BS) watershed, making this basin a suitable location to investigate former ice-sheet dynamics. Here, from a core retrieved in the BS, we combine the use of neodymium isotopes, high-resolution elemental analysis, and biomarkers to trace changes in sediment provenance and river runoff. We reveal cyclic releases of meltwater originating from Lake Disna, a proglacial lake linked to the FIS during Heinrich Stadial 1. Regional interactions within the climate-lake-FIS system, linked to changes in the availability of subglacial water, led to abrupt drainage cycles of the FIS into the BS watershed. This phenomenon raised the BS water level by ∼100 m until the sill of the Bosphorus Strait was reached, flooding the vast northwestern BS shelf and deeply affecting the hydrology and circulation of the BS and, probably, of the Marmara and Aegean Seas.

  17. Timely binding of IHF and Fis to DARS2 regulates ATP-DnaA production and replication initiation.

    PubMed

    Kasho, Kazutoshi; Fujimitsu, Kazuyuki; Matoba, Toshihiro; Oshima, Taku; Katayama, Tsutomu

    2014-12-01

    In Escherichia coli, the ATP-bound form of DnaA (ATP-DnaA) promotes replication initiation. During replication, the bound ATP is hydrolyzed to ADP to yield the ADP-bound form (ADP-DnaA), which is inactive for initiation. The chromosomal site DARS2 facilitates the regeneration of ATP-DnaA by catalyzing nucleotide exchange between free ATP and ADP bound to DnaA. However, the regulatory mechanisms governing this exchange reaction are unclear. Here, using in vitro reconstituted experiments, we show that two nucleoid-associated proteins, IHF and Fis, bind site-specifically to DARS2 to activate coordinately the exchange reaction. The regenerated ATP-DnaA was fully active in replication initiation and underwent DnaA-ATP hydrolysis. ADP-DnaA formed heteromultimeric complexes with IHF and Fis on DARS2, and underwent nucleotide dissociation more efficiently than ATP-DnaA. Consistently, mutant analyses demonstrated that specific binding of IHF and Fis to DARS2 stimulates the formation of ATP-DnaA production, thereby promoting timely initiation. Moreover, we show that IHF-DARS2 binding is temporally regulated during the cell cycle, whereas Fis only binds to DARS2 in exponentially growing cells. These results elucidate the regulation of ATP-DnaA and replication initiation in coordination with the cell cycle and growth phase. © The Author(s) 2014. Published by Oxford University Press on behalf of Nucleic Acids Research.

  18. Chronic fatigue in patients with unexplained self-reported food hypersensitivity and irritable bowel syndrome: validation of a Norwegian translation of the Fatigue Impact Scale.

    PubMed

    Lind, Ragna; Berstad, Arnold; Hatlebakk, Jan; Valeur, Jørgen

    2013-01-01

    Patients with unexplained self-reported food hypersensitivity and irritable bowel syndrome (IBS) suffer from several health complaints, including fatigue. The aim of the present study was to validate a Norwegian translation of the Fatigue Impact Scale (FIS), and to assess the impact of fatigue in patients with self-reported food hypersensitivity and IBS, as compared with healthy controls. Thirty-eight patients with unexplained self-reported food hypersensitivity and IBS, who participated in the validation of the FIS completed the following additional questionnaires: the Short Form of Nepean Dyspepsia Index for assessment of quality of life, the Subjective Health Complaint Inventory, and questionnaires for diagnosis and severity of IBS. Impact of fatigue was studied in 43 patients with unexplained self-reported food hypersensitivity, 70% diagnosed with IBS, and 42 healthy controls. Cronbach's α for the FIS was 0.98, indicating excellent agreement between individual items. Scores on the FIS correlated with scores on the Short Form of Nepean Dyspepsia Index (r = 0.50, P = 0.001), indicating good convergent validity, and were higher in patients (median 85.0, interquartile range 36.8-105.3) than in controls (median 14.0, interquartile range 3.0-29.0, P ≤ 0.0001). The Norwegian translation of the FIS performed excellently in patients with unexplained self-reported food hypersensitivity and IBS, with patients reporting significantly more impact of chronic fatigue than healthy controls.

  19. Transcriptomic analysis of inbreeding depression in cold-sensitive Drosophila melanogaster shows upregulation of the immune response.

    PubMed

    Vermeulen, C J; Sørensen, P; Kirilova Gagalova, K; Loeschcke, V

    2013-09-01

    In sexually reproducing species, increased homozygosity often causes a decline in fitness, called inbreeding depression. Recently, researchers started describing the functional genomic changes that occur during inbreeding, both in benign conditions and under environmental stress. To further this aim, we have performed a genome-wide gene expression study of inbreeding depression, manifesting as cold sensitivity and conditional lethality. Our focus was to describe general patterns of gene expression during inbreeding depression and to identify specific processes affected in our line. There was a clear difference in gene expression between the stressful restrictive environment and the benign permissive environment in both the affected inbred line and the inbred control line. We noted a strong inbreeding-by-environment interaction, whereby virtually all transcriptional differences between lines were found in the restrictive environment. Functional annotation showed enrichment of transcripts coding for serine proteases and their inhibitors (serpins and BPTI/Kunitz family), which indicates activation of the innate immune response. These genes have previously been shown to respond transcriptionally to cold stress, suggesting the conditional lethal effect is associated with an exaggerated cold stress response. The set of differentially expressed genes significantly overlapped with those found in three other studies of inbreeding depression, demonstrating that it is possible to detect a common signature across different genetic backgrounds. © 2013 The Authors. Journal of Evolutionary Biology © 2013 European Society For Evolutionary Biology.

  20. [Alteration of mitochondrial distribution and gene expression of fission 1 protein in cortical neurons of rats with chronic fluorosis].

    PubMed

    Lou, Di-dong; Zhang, Kai-lin; Qin, Shuang-li; Liu, Yan-fei; Yu, Yan-ni; Guan, Zhi-zhong

    2012-04-01

    To investigate the changes of mitochondrial distribution in axon/soma and the expression of mitochondrial fission 1 (Fis1) protein in the cortical neurons of rats with chronic fluorosis. Sixty SD rats were divided into 3 groups (20 each) according to weight hierarchy and fed with different concentrations of fluoride in drinking water (0, 10 and 50 mg/L, respectively) for 6 months. Images of mitochondria and tubulin labeled by immunofluorescence COXIV and tubulin-α were captured with fluorescence microscope. Fis1 protein expression in cortical neurons was analyzed with immunohistochemistry and Western blot. The expression of Fis1 mRNA was detected with real-time PCR. Varying degrees of dental fluorosis and increased fluoride contents in urine were observed in the rats receiving additional fluoride in drinking water. In the cortical neurons of rats fed with 10 mg/L and 50 mg/L fluoride, the numbers of neuronal soma stained with COXIV(34.8 ± 4.7 and 39.3 ± 3.0, respectively), and the expression of Fis1 protein (immunohistochemistry: 54.0 ± 3.6 and 51.3 ± 4.1, respectively; Western blot: 2.9 ± 0.4 and 2.6 ± 0.6, respectively) and mRNA (3773 ± 1292 and 1274 ± 162, respectively) was markedly increased as compared with controls (4.4 ± 2.3, 25.2 ± 2.5, 1.8 ± 0.2 and 277 ± 73) over the experimental period of 6 months. Excessive intake of fluoride results in an altered mitochondrial distribution in axon and soma in cortical neurons (i.e., the increase in soma and the decrease in axon), increased expression of Fis1 gene and enhanced mitochondrial fission. The altered mitochondrial distribution may be related to the high expression level of Fis1 and a functional disorder of mitochondria.

  1. Dosimetric comparisons of carbon ion treatment plans for 1D and 2D ripple filters with variable thicknesses

    NASA Astrophysics Data System (ADS)

    Printz Ringbæk, Toke; Weber, Uli; Santiago, Alina; Simeonov, Yuri; Fritz, Peter; Krämer, Michael; Wittig, Andrea; Bassler, Niels; Engenhart-Cabillic, Rita; Zink, Klemens

    2016-06-01

    A ripple filter (RiFi)—also called mini-ridge filter—is a passive energy modulator used in particle beam treatments that broadens the Bragg peak (BP) as a function of its maximum thickness. The number of different energies requested from the accelerator can thus be reduced, which significantly reduces the treatment time. A new second generation RiFi with 2D groove shapes was developed using rapid prototyping, which optimizes the beam-modulating material and enables RiFi thicknesses of up to 6 mm. Carbon ion treatment plans were calculated using the standard 1D 3 mm thick RiFi and the new 4 and 6 mm 2D RiFis for spherical planning target volumes (PTVs) in water, eight stage I non-small cell lung cancer cases, four skull base chordoma cases and three prostate cancer cases. TRiP98 was used for treatment planning with facility-specific base data calculated with the Monte Carlo code SHIELD-HIT12A. Dose-volume-histograms, spatial dose distributions and dosimetric indexes were used for plan evaluation. Plan homogeneity and conformity of thinner RiFis were slightly superior to thicker RiFis but satisfactory results were obtained for all RiFis investigated. For the 6 mm RiFi, fine structures in the dose distribution caused by the larger energy steps were observed at the PTV edges, in particular for superficial and/or very small PTVs but performances for all RiFis increased with penetration depth due to straggling and scattering effects. Plans with the new RiFi design yielded for the studied cases comparable dosimetric results to the standard RiFi while the 4 and 6 mm RiFis lowered the irradiation time by 25-30% and 45-49%, respectively.

  2. Reverse Anterior Cruciate Ligament Reconstruction Fixation: A Biomechanical Comparison Study of Tibial Cross-Pin and Femoral Interference Screw Fixation.

    PubMed

    Lawley, Richard J; Klein, Samuel E; Chudik, Steven C

    2017-03-01

    To evaluate the biomechanical performance of tibial cross-pin (TCP) fixation relative to femoral cross-pin (FCP), femoral interference screw (FIS), and tibial interference screw (TIS) fixation. We randomized 40 porcine specimens (20 tibias and 20 femurs) to TIS fixation (group 1, n = 10), FIS fixation (group 2, n = 10), TCP fixation (group 3, n = 10), or FCP fixation (group 4, n = 10) and performed biomechanical testing to compare ultimate load, stiffness, yield load, cyclic displacement, and load at 5-mm displacement. We performed cross-pin fixation of the looped end and interference screw fixation of the free ends of 9-mm-diameter bovine extensor digitorum communis tendon grafts. Graft fixation constructs were cyclically loaded and then loaded to failure in line with the tunnels. Regarding yield load, FIS was superior to TIS (704 ± 125 N vs 504 ± 118 N, P = .002), TCP was superior to TIS (1,449 ± 265 N vs 504 ± 118 N, P < .001), and TCP was superior to FCP (1,449 ± 265 N vs 792 ± 397 N, P < .001). Cyclic displacement for FCP was superior to TCP. Cyclic displacement for TIS versus FIS showed no statistically significant difference (2.5 ± 1.0 mm vs 2.2 ± 0.6 mm, P = .298). Interference screw fixation consistently failed by graft slippage, whereas TCP fixation failed by tibial bone failure. FCP fixation failed by either femoral bone failure or failure elsewhere in the testing apparatus. Regarding yield load, TCP fixation performed biomechanically superior to the clinically proven FCP at time zero. Because TIS fixation shows the lowest yield strength, it represents the weak link, and combined TCP-FIS fixation theoretically would be biomechanically superior relative to combined FCP-TIS fixation with regard to yield load. Cyclic displacement showed a small difference in favor of FCP over TCP fixation and no difference between TIS and FIS. Time-zero biomechanics of TCP fixation paired with FIS fixation show that this method of fixation can be considered a potential alternative to current practice and may pose clinical benefits in different clinical scenarios of anterior cruciate ligament reconstruction. Copyright © 2016 Arthroscopy Association of North America. Published by Elsevier Inc. All rights reserved.

  3. Founder effects, inbreeding, and loss of genetic diversity in four avian reintroduction programs.

    PubMed

    Jamieson, Ian G

    2011-02-01

    The number of individuals translocated and released as part of a reintroduction is often small, as is the final established population, because the reintroduction site is typically small. Small founder and small resulting populations can result in population bottlenecks, which are associated with increased rates of inbreeding and loss of genetic diversity, both of which can affect the long-term viability of reintroduced populations. I used information derived from pedigrees of four monogamous bird species reintroduced onto two different islands (220 and 259 ha) in New Zealand to compare the pattern of inbreeding and loss of genetic diversity among the reintroduced populations. Although reintroduced populations founded with few individuals had higher levels of inbreeding, as predicted, other factors, including biased sex ratio and skewed breeding success, contributed to high levels of inbreeding and loss of genetic diversity. Of the 10-58 individuals released, 4-25 genetic founders contributed at least one living descendent and yielded approximately 3-11 founder-genome equivalents (number of genetic founders assuming an equal contribution of offspring and no random loss of alleles across generations) after seven breeding seasons. This range is much lower than the 20 founder-genome equivalents recommended for captive-bred populations. Although the level of inbreeding in one reintroduced population initially reached three times that of a closely related species, the long-term estimated rate of inbreeding of this one population was approximately one-third that of the other species due to differences in carrying capacities of the respective reintroduction sites. The increasing number of reintroductions to suitable areas that are smaller than those I examined here suggests that it might be useful to develop long-term strategies and guidelines for reintroduction programs, which would minimize inbreeding and maintain genetic diversity. ©2010 Society for Conservation Biology.

  4. Cost of inbreeding in resistance to herbivores in Datura stramonium

    PubMed Central

    Bello-Bedoy, Rafael; Núñez-Farfán, Juan

    2010-01-01

    Background and Aims Experiments show that inbred progenies are frequently more damaged by herbivores than outcrossed progenies, suggesting that selfing is costly when herbivores are present and can increase the magnitude of inbreeding depression in survival and reproductive components of fitness. The present study assesses whether inbreeding increases herbivory and estimates the magnitude of inbreeding depression on reproductive components of fitness in the annual plant Datura stramonium. Methods Two experiments were performed under natural conditions of herbivory to assess the effect of inbreeding on plant damage in D. stramonium. In the first experiment, outcrossed progeny was generated using foreign pollen donors, whereas inbred progeny was produced by self-pollination. In both groups, survival, herbivore damage and reproductive components of fitness were measured. In the second experiment, inbred and outcrossed progenies were produced using only local pollen donors, and only damage by herbivores was measured. Key Results Despite yearly variation in damage caused by the same specialist herbivores, inbred progeny suffered consistently more damage than outcrossed progeny. There was a significant inbreeding depression for fruit number (δ = 0·3), seed number per fruit (δ = 0·19) and seed number per plant (δ = 0·43). Furthermore, significant genetic variation amongst families in the magnitude of inbreeding depression was observed. Discussion The results suggest that the plant's mating system modified the pattern of herbivory by specialist insects in D. stramonium. Inbred plants suffer not only from the genetic cost of low vigour but also from greater damage by herbivores. The mechanism by which inbreeding reduces plant resistance to herbivores remains unknown but is an interesting area for future research. PMID:20237119

  5. The scent of inbreeding: a male sex pheromone betrays inbred males

    PubMed Central

    van Bergen, Erik; Brakefield, Paul M.; Heuskin, Stéphanie; Zwaan, Bas J.; Nieberding, Caroline M.

    2013-01-01

    Inbreeding depression results from mating among genetically related individuals and impairs reproductive success. The decrease in male mating success is usually attributed to an impact on multiple fitness-related traits that reduce the general condition of inbred males. Here, we find that the production of the male sex pheromone is reduced significantly by inbreeding in the butterfly Bicyclus anynana. Other traits indicative of the general condition, including flight performance, are also negatively affected in male butterflies by inbreeding. Yet, we unambiguously show that only the production of male pheromones affects mating success. Thus, this pheromone signal informs females about the inbreeding status of their mating partners. We also identify the specific chemical component (hexadecanal) probably responsible for the decrease in male mating success. Our results advocate giving increased attention to olfactory communication as a major causal factor of mate-choice decisions and sexual selection. PMID:23466986

  6. Genetic erosion impedes adaptive responses to stressful environments

    PubMed Central

    Bijlsma, R; Loeschcke, Volker

    2012-01-01

    Biodiversity is increasingly subjected to human-induced changes of the environment. To persist, populations continually have to adapt to these often stressful changes including pollution and climate change. Genetic erosion in small populations, owing to fragmentation of natural habitats, is expected to obstruct such adaptive responses: (i) genetic drift will cause a decrease in the level of adaptive genetic variation, thereby limiting evolutionary responses; (ii) inbreeding and the concomitant inbreeding depression will reduce individual fitness and, consequently, the tolerance of populations to environmental stress. Importantly, inbreeding generally increases the sensitivity of a population to stress, thereby increasing the amount of inbreeding depression. As adaptation to stress is most often accompanied by increased mortality (cost of selection), the increase in the ‘cost of inbreeding’ under stress is expected to severely hamper evolutionary adaptive processes. Inbreeding thus plays a pivotal role in this process and is expected to limit the probability of genetically eroded populations to successfully adapt to stressful environmental conditions. Consequently, the dynamics of small fragmented populations may differ considerably from large nonfragmented populations. The resilience of fragmented populations to changing and deteriorating environments is expected to be greatly decreased. Alleviating inbreeding depression, therefore, is crucial to ensure population persistence. PMID:25568035

  7. Genomic diversity and population structure of three autochthonous Greek sheep breeds assessed with genome-wide DNA arrays.

    PubMed

    Michailidou, S; Tsangaris, G; Fthenakis, G C; Tzora, A; Skoufos, I; Karkabounas, S C; Banos, G; Argiriou, A; Arsenos, G

    2018-06-01

    In the present study, genome-wide genotyping was applied to characterize the genetic diversity and population structure of three autochthonous Greek breeds: Boutsko, Karagouniko and Chios. Dairy sheep are among the most significant livestock species in Greece numbering approximately 9 million animals which are characterized by large phenotypic variation and reared under various farming systems. A total of 96 animals were genotyped with the Illumina's OvineSNP50K microarray beadchip, to study the population structure of the breeds and develop a specialized panel of single-nucleotide polymorphisms (SNPs), which could distinguish one breed from the others. Quality control on the dataset resulted in 46,125 SNPs, which were used to evaluate the genetic structure of the breeds. Population structure was assessed through principal component analysis (PCA) and admixture analysis, whereas inbreeding was estimated based on runs of homozygosity (ROHs) coefficients, genomic relationship matrix inbreeding coefficients (F GRM ) and patterns of linkage disequilibrium (LD). Associations between SNPs and breeds were analyzed with different inheritance models, to identify SNPs that distinguish among the breeds. Results showed high levels of genetic heterogeneity in the three breeds. Genetic distances among breeds were modest, despite their different ancestries. Chios and Karagouniko breeds were more genetically related to each other compared to Boutsko. Analysis revealed 3802 candidate SNPs that can be used to identify two-breed crosses and purebred animals. The present study provides, for the first time, data on the genetic background of three Greek indigenous dairy sheep breeds as well as a specialized marker panel that can be applied for traceability purposes as well as targeted genetic improvement schemes and conservation programs.

  8. Analysis of genetic diversity of Chinese dairy goats via microsatellite markers.

    PubMed

    Wang, G Z; Chen, S S; Chao, T L; Ji, Z B; Hou, L; Qin, Z J; Wang, J M

    2017-05-01

    In this study, 15 polymorphic microsatellite markers were used to analyze the genetic structure and phylogenetic relationships of 6 dairy goat breeds in China, including 4 native developed breeds and 2 introduced breeds. The results showed that a total of 172 alleles were detected in 347 samples of the dairy goat breeds included in this study. The mean number of effective alleles per locus was 4.92. Except for BMS0812, all of the remaining microsatellite loci were highly polymorphic (polymorphism information content [PIC] > 0.5). The analysis of genetic diversity parameters, including the number of effective alleles, PIC, and heterozygosity, revealed that the native developed dairy goat breeds in China harbored a rich genetic diversity. However, these breeds showed a low breeding degree and a high population intermix degree, with a certain degree of inbreeding and within-subpopulation inbreeding coefficient ( > 0). The analysis of population genetic differentiation and phylogenetic tree topologies showed a moderate state of genetic differentiation among subpopulations of native developed breed dairy goats in China (0.05 < gene fixation coefficient [] < 0.15). The native developed breeds shared a common ancestor, namely, the Saanen dairy goat, originating from Europe. The results showed that there was a close genetic relationship between Wendeng and Laoshan dairy goats while the Guanzhong dairy goat and the Xinong Saanen dairy goat were also found to have a close genetic relationship, which were both in agreement with the formation history and geographical distribution of the breeds. This study revealed that adopting genetic management strategies, such as expanding pedigree source and strengthening multi-trait selection, is useful in maintaining the genetic diversity of native developed breeds and improving the population uniformity of dairy goats.

  9. Natural and artificial spawning strategies with fresh and cryopreserved semen in Rhamdia quelen: Reproductive parameters and genetic variability of offspring.

    PubMed

    Goes, Marcio Douglas; Reis Goes, Elenice Souza Dos; Ribeiro, Ricardo Pereira; Lopera-Barrero, Nelson Maurício; Castro, Pedro Luiz de; Bignotto, Thaís Souto; Bombardelli, Robie Allan

    2017-01-15

    This study evaluated the reproductive parameters and genetic variability of offspring of Rhamdia quelen from mating by natural spawning and by controlled fertilization with fresh and cryopreserved semen. After hormonal manipulation, three R quelen pairs were used for natural spawning in high-flow tanks, three pairs were used for mating with fresh semen, and another three pairs were used with cryopreserved semen. Matings were performed in triplicate. For matings with fresh and cryopreserved semen, semen from each male was used to individually fertilize oocytes from each female. Pools of semen and oocytes were made, and aliquots of these gametes were taken for fertilization. No differences (P > 0.05) were detected for absolute or relative fecundity, fertilization rate, or egg hatching rate. The use of fresh semen led to a higher (P < 0.01) percentage of normal larvae. The use of fresh semen in pooled mating resulted in a greater effective number of alleles and a higher expected heterozygosity. Offspring from natural spawning presented higher observed heterozygosity and a lower inbreeding coefficient. The highest inbreeding coefficient was found in offspring from individual matings using fresh semen. Regarding paternal contributions, a single male dominated in matings with fresh semen, whereas two males dominated in natural spawning and matings using cryopreserved semen. The use of gamete pools for mating and natural spawning resulted in higher genetic variability of offspring, and mating using cryopreserved semen found no effects on genetic variability of offspring but did reduce the percentage of normal larvae. Other reproductive parameters were not influenced by spawning strategies. Copyright © 2016. Published by Elsevier Inc.

  10. Exploration of genetic architecture through sib-ship reconstruction in advanced breeding population of Eucalyptus nitens.

    PubMed

    Klápště, Jaroslav; Suontama, Mari; Telfer, Emily; Graham, Natalie; Low, Charlie; Stovold, Toby; McKinley, Russel; Dungey, Heidi

    2017-01-01

    Accurate inference of relatedness between individuals in breeding population contributes to the precision of genetic parameter estimates, effectiveness of inbreeding management and the amount of genetic progress delivered from breeding programs. Pedigree reconstruction has been proven to be an efficient tool to correct pedigree errors and recover hidden relatedness in open pollinated progeny tests but the method can be limited by the lack of parental genotypes and the high proportion of alien pollen from outside the breeding population. Our study investigates the efficiency of sib-ship reconstruction in an advanced breeding population of Eucalyptus nitens with only partially tracked pedigree. The sib-ship reconstruction allowed the identification of selfs (4% of the sample) and the exploration of their potential effect on inbreeding depression in the traits studied. We detected signs of inbreeding depression in diameter at breast height and growth strain while no indications were observed in wood density, wood stiffness and tangential air-dry shrinkage. After the application of a corrected sib-ship relationship matrix, additive genetic variance and heritability were observed to increase where signs of inbreeding depression were initially detected. Conversely, the same genetic parameters for traits that appeared to be free of inbreeding depression decreased in size. It therefore appeared that greater genetic variance may be due, at least in part, to contributions from inbreeding in these studied populations rather than a removal of inbreeding as is traditionally thought.

  11. Variance composition, measurement invariance by gender, and construct validity of the Femininity Ideology Scale-Short Form.

    PubMed

    Levant, Ronald F; Alto, Kathleen M; McKelvey, Daniel K; Richmond, Katherine A; McDermott, Ryon C

    2017-11-01

    The current study extended prior work on the Femininity Ideology Scale (FIS), a multidimensional measure of traditional femininity ideology (TFI), in several ways. First, we conducted exploratory factor and bifactor analyses, which revealed a general TFI factor and 3 specific factors: dependence/deference, purity, and emotionality/traditional roles. Second, based on these results we developed the 12-item FIS-Short Form (FIS-SF). Third, we assessed the FIS-SF using confirmatory factor analysis on a separate sample, finding that the items loaded on the general factor and 3 specific factors as hypothesized, and that the bifactor model fit better than common factors and unidimensional models. Fourth, model-based reliability estimates tentatively support the use of raw scores to represent the general TFI factor and the emotionality/traditional roles specific factor, but the other 2 specific factors are best measured using SEM or by ipsatizing their scores. Fifth, we assessed measurement invariance across 2 gender groups, finding evidence for configural invariance for all factors, and for partial metric invariance for the specific factors. Sixth, we found evidence for the convergent construct validity of the FIS-SF general factor and the emotionality/traditional roles specific factors by examining relationships with the latent variables of several constructs in the nomological network. The results are discussed in relationship to prior literature, future research directions, applications to counseling practice, and limitations. Data (N = 1,472, 907 women, 565 men, 530 people of color) were from community and college participants who responded to an online survey. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  12. Carbon monoxide alleviates lipopolysaccharide-induced oxidative stress injury through suppressing the expression of Fis1 in NR8383 cells

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Shi, Jia; Yu, Jian-bo, E-mail: yujianbo11@126.com; Liu, Wei

    Acute respiratory distress syndrome (ARDS) is one of the most devastating complications of sepsis lacking of effective therapy. Mitochondrial dynamics undergoing continuous fusion and fission play a crucial role in mitochondrial structure and function. Fis1, as a small protein located on the outer membrane of mitochondria, has been thought to be an important protein mediated mitochondrial fission. During ARDS, alveolar macrophages suffer from increased oxidative stress and apoptosis, and also accompanied by disrupted mitochondrial dynamics. In addition, as one of the products of heme degradation catalyzed by heme oxygenase, carbon monoxide (CO) possesses powerful protective properties in vivo or inmore » vitro models, such as anti-inflammatory, antioxidant and anti-apoptosis function. However, there is little evidence that CO alleviates oxidative stress damage through altering mitochondrial fission in alveolar macrophages. In the present study, our results showed that CO increased cell vitality, improved mitochondrial SOD activity, reduced reactive oxygen species (ROS) production and inhibited cell apoptosis in NR8383 exposed to LPS. Meanwhile, CO decreased the expression of Fis1, increased mitochondrial membrane potential and sustained elongation of mitochondria in LPS-incubated NR8383. Overall, our study underscored a critical role of CO in suppressing the expression of Fis1 and alleviating LPS- induced oxidative stress damage in alveolar macrophages. - Highlights: • LPS exposure triggered cell injury in NR8383. • CO alleviated LPS-induced oxidative stress damage in alveolar macrophages. • CO inhibited Fis1 levels and improved mitochondrial function in LPS-induced NR8383.« less

  13. Site-specific DNA Inversion by Serine Recombinases

    PubMed Central

    2015-01-01

    Reversible site-specific DNA inversion reactions are widely distributed in bacteria and their viruses. They control a range of biological reactions that most often involve alterations of molecules on the surface of cells or phage. These programmed DNA rearrangements usually occur at a low frequency, thereby preadapting a small subset of the population to a change in environmental conditions, or in the case of phages, an expanded host range. A dedicated recombinase, sometimes with the aid of additional regulatory or DNA architectural proteins, catalyzes the inversion of DNA. RecA or other components of the general recombination-repair machinery are not involved. This chapter discusses site-specific DNA inversion reactions mediated by the serine recombinase family of enzymes and focuses on the extensively studied serine DNA invertases that are stringently controlled by the Fis-bound enhancer regulatory system. The first section summarizes biological features and general properties of inversion reactions by the Fis/enhancer-dependent serine invertases and the recently described serine DNA invertases in Bacteroides. Mechanistic studies of reactions catalyzed by the Hin and Gin invertases are then discussed in more depth, particularly with regards to recent advances in our understanding of the function of the Fis/enhancer regulatory system, the assembly of the active recombination complex (invertasome) containing the Fis/enhancer, and the process of DNA strand exchange by rotation of synapsed subunit pairs within the invertasome. The role of DNA topological forces that function in concert with the Fis/enhancer controlling element in specifying the overwhelming bias for DNA inversion over deletion and intermolecular recombination is emphasized. PMID:25844275

  14. ANFIS-based modelling for coagulant dosage in drinking water treatment plant: a case study.

    PubMed

    Heddam, Salim; Bermad, Abdelmalek; Dechemi, Noureddine

    2012-04-01

    Coagulation is the most important stage in drinking water treatment processes for the maintenance of acceptable treated water quality and economic plant operation, which involves many complex physical and chemical phenomena. Moreover, coagulant dosing rate is non-linearly correlated to raw water characteristics such as turbidity, conductivity, pH, temperature, etc. As such, coagulation reaction is hard or even impossible to control satisfactorily by conventional methods. Traditionally, jar tests are used to determine the optimum coagulant dosage. However, this is expensive and time-consuming and does not enable responses to changes in raw water quality in real time. Modelling can be used to overcome these limitations. In this study, an Adaptive Neuro-Fuzzy Inference System (ANFIS) was used for modelling of coagulant dosage in drinking water treatment plant of Boudouaou, Algeria. Six on-line variables of raw water quality including turbidity, conductivity, temperature, dissolved oxygen, ultraviolet absorbance, and the pH of water, and alum dosage were used to build the coagulant dosage model. Two ANFIS-based Neuro-fuzzy systems are presented. The two Neuro-fuzzy systems are: (1) grid partition-based fuzzy inference system (FIS), named ANFIS-GRID, and (2) subtractive clustering based (FIS), named ANFIS-SUB. The low root mean square error and high correlation coefficient values were obtained with ANFIS-SUB method of a first-order Sugeno type inference. This study demonstrates that ANFIS-SUB outperforms ANFIS-GRID due to its simplicity in parameter selection and its fitness in the target problem.

  15. Compact, Low-Noise Magnetic Sensor with Fluxgate (DC) and Induction (AC) Modes of Operation

    DTIC Science & Technology

    2009-07-01

    induction sensor and the fluxgate magnetometer . ......................................... 2 Figure 3.1 - Impulse response of a 4” long coil (#6...Block diagram of the Year 2, Task 2 fluxgate magnetometer . ................................... 6 Figure 3.3 - FIS-prototype magnetic-field...and demonstrated an innovative dual-mode, fluxgate -induction sensor (FIS) that combines a fluxgate magnetometer and an electromagnetic (EM) induction

  16. Two Web-Based Laboratories of the FisL@bs Network: Hooke's and Snell's Laws

    ERIC Educational Resources Information Center

    de la Torre, L.; Sanchez, J.; Dormido, S.; Sanchez, J. P.; Yuste, M.; Carreras, C.

    2011-01-01

    FisL@bs is a network of remote and virtual laboratories for physics university education via the Internet that offers students the possibility of performing hands-on experiments in different fields of physics in two ways: simulation and real remote operation. This paper gives a detailed account of a novel way in physics in which distance learning…

  17. Analysis of the effects of early nutritional environment on inbreeding depression in Drosophila melanogaster.

    PubMed

    Valtonen, T M; Roff, D A; Rantala, M J

    2011-01-01

    The impact of nutritional deficiencies early in life in determining life-history variation in organisms is well recognized. The negative effects of inbreeding on fitness are also well known. Contrary to studies on vertebrates, studies on invertebrates are not consistent with the observation that inbreeding compromises resistance to parasites and pathogens. In this study, we investigated the effect of early nutrition on the magnitude of inbreeding depression in development time, adult body size and adult resistance to the bacterium Serratia marcescens in Drosophila melanogaster. We found that early nutritional environment had no effect on the magnitude of inbreeding depression in development time or adult body size but may have played a small role in adult resistance to the bacterial infection. Estimates of heritabilities for development time under the poor nutritional environment were larger than those measured under the standard nutritional conditions. © 2010 The Authors. Journal of Evolutionary Biology © 2010 European Society For Evolutionary Biology.

  18. No evidence for postcopulatory inbreeding avoidance in Drosophila melanogaster.

    PubMed

    Ala-Honkola, Outi; Manier, Mollie K; Lüpold, Stefan; Pitnick, Scott

    2011-09-01

    Selection to avoid inbreeding is predicted to vary across species due to differences in population structure and reproductive biology. Over the past decade, there have been numerous investigations of postcopulatory inbreeding avoidance, a phenomenon that first requires discrimination of mate (or sperm) relatedness and then requires mechanisms of male ejaculate tailoring and/or cryptic female choice to avoid kin. The number of studies that have found a negative association between male-female genetic relatedness and competitive fertilization success is roughly equal to the number of studies that have not found such a relationship. In the former case, the underlying mechanisms are largely unknown. The present study was undertaken to verify and expand upon a previous report of postcopulatory inbreeding avoidance in D. melanogaster, as well as to resolve underlying mechanisms of inbreeding avoidance using transgenic flies that express a sperm head-specific fluorescent tag. However, siblings did not have a lower fertilization success as compared to unrelated males in either the first (P(1) ) or second (P(2) ) mate role in sperm competition with a standard unrelated competitor male in our study population of D. melanogaster. Analyses of mating latency, copulation duration, egg production rate, and remating interval further revealed no evidence for inbreeding avoidance. © 2011 The Author(s).

  19. Recent breeding history of dog breeds in Sweden: modest rates of inbreeding, extensive loss of genetic diversity and lack of correlation between inbreeding and health

    PubMed Central

    Jansson, M; Laikre, L

    2014-01-01

    One problem in modern dogs is a high occurrence of physical diseases, defects and disorders. Many breeds exhibit physical problems that affect individual dogs throughout life. A potential cause of these problems is inbreeding that is known to reduce the viability of individuals. We investigated the possible correlation between recent inbreeding and health problems in dogs and used studbook data from 26 breeds provided by the Swedish Kennel Club for this purpose. The pedigrees date back to the mid-20th century and comprise 5–10 generations and 1 000–50 000 individuals per pedigree over our study period of 1980–2010. We compared levels of inbreeding and loss of genetic variation measured in relation to the number of founding animals during this period in the investigated dog breeds that we classified as ‘healthy’ (11 breeds) or ‘unhealthy’ (15) based on statistics on the extent of veterinary care obtained from Sweden's four largest insurance companies for pets. We found extensive loss of genetic variation and moderate levels of recent inbreeding in all breeds examined, but no strong indication of a difference in these parameters between healthy versus unhealthy breeds over this period. Thus, recent breeding history with respect to rate of inbreeding does not appear to be a main cause of poor health in the investigated dog breeds in Sweden. We identified both strengths and weaknesses of the dog pedigree data important to consider in future work of monitoring and conserving genetic diversity of dog breeds. PMID:24289536

  20. Assessing effective population size, coancestry and inbreeding effects on litter size using the pedigree and SNP data in closed lines of the Iberian pig breed.

    PubMed

    Silió, L; Barragán, C; Fernández, A I; García-Casco, J; Rodríguez, M C

    2016-04-01

    The complete pedigree of two closed Iberian pig lines (Gamito and Torbiscal), with 798 and 4077 reproducers, has been used to measure the evolution of coancestry (f) and inbreeding (F) for autosomal and X-linked genes along 16 and 28 respective equivalent discrete generations. At the last generation, the mean values of each line were f = 0.41 and 0.22, F = 0.35 and 0.18, fX  = 0.46 and 0.22 and FX  = 0.47 and 0.19, respectively. Other calculated parameters were the effective number of founders (final values, 6.8 and 35.2) and non-founders (1.5 and 2.4), founder genome equivalents (1.2 and 2.3) and effective population size (16.0 and 57.7). Measures of Torbiscal effective size based on rates of coancestry (66.1), inbreeding (65.0) and linkage disequilibrium (71.0) were estimated from whole-genome SNP genotyping data. Values of new and old inbreeding and their respective rates by generation were computed to detect purging effects of natural selection. The analysis of 6854 Torbiscal litters showed significant negative impacts of new and fast inbreeding on litter size, as expected from the purging hypothesis: -0.20 born piglets per litter by a 10% of new inbreeding, and -0.03 and -0.02 piglets by 1% of total and new inbreeding rates, respectively. The analysis performed on 1274 litters of the Gamito line failed to show purging effects. The only significant results were reductions in -0.91 and -0.17 piglets by a 10% of old and X-linked genes inbreeding, respectively. These results may be useful for some practical issues in conservation programs of farm or captive wild animals. © 2015 Blackwell Verlag GmbH.

  1. Development of genetic diversity, differentiation and structure over 500 years in four ponderosa pine populations.

    PubMed

    Lesser, M R; Parchman, T L; Jackson, S T

    2013-05-01

    Population history plays an important role in shaping contemporary levels of genetic variation and geographic structure. This is especially true in small, isolated range-margin populations, where effects of inbreeding, genetic drift and gene flow may be more pronounced than in large continuous populations. Effects of landscape fragmentation and isolation distance may have implications for persistence of range-margin populations if they are demographic sinks. We studied four small, disjunct populations of ponderosa pine over a 500-year period. We coupled demographic data obtained through dendroecological methods with microsatellite data to discern how and when contemporary levels of allelic diversity, among and within-population levels of differentiation, and geographic structure, arose. Alleles accumulated rapidly following initial colonization, demonstrating proportionally high levels of gene flow into the populations. At population sizes of approximately 100 individuals, allele accumulation saturated. Levels of genetic differentiation among populations (F(ST) and Jost's D(est)) and diversity within populations (F(IS)) remained stable through time. There was no evidence of geographic genetic structure at any time in the populations' history. Proportionally, high gene flow in the early stages of population growth resulted in rapid accumulation of alleles and quickly created relatively homogenous genetic patterns among populations. Our study demonstrates that contemporary levels of genetic diversity were formed quickly and early in population development. How contemporary genetic diversity accumulates over time is a key facet of understanding population growth and development. This is especially relevant given the extent and speed at which species ranges are predicted to shift in the coming century. © 2013 Blackwell Publishing Ltd.

  2. Genetic structure and demographic history of the endangered tree species Dysoxylum malabaricum (Meliaceae) in Western Ghats, India: implications for conservation in a biodiversity hotspot

    PubMed Central

    Bodare, Sofia; Tsuda, Yoshiaki; Ravikanth, Gudasalamani; Uma Shaanker, Ramanan; Lascoux, Martin

    2013-01-01

    The impact of fragmentation by human activities on genetic diversity of forest trees is an important concern in forest conservation, especially in tropical forests. Dysoxylum malabaricum (white cedar) is an economically important tree species, endemic to the Western Ghats, India, one of the world's eight most important biodiversity hotspots. As D. malabaricum is under pressure of disturbance and fragmentation together with overharvesting, conservation efforts are required in this species. In this study, range-wide genetic structure of twelve D. malabaricum populations was evaluated to assess the impact of human activities on genetic diversity and infer the species’ evolutionary history, using both nuclear and chloroplast (cp) DNA simple sequence repeats (SSR). As genetic diversity and population structure did not differ among seedling, juvenile and adult age classes, reproductive success among the old-growth trees and long distance seed dispersal by hornbills were suggested to contribute to maintain genetic diversity. The fixation index (FIS) was significantly correlated with latitude, with a higher level of inbreeding in the northern populations, possibly reflecting a more severe ecosystem disturbance in those populations. Both nuclear and cpSSRs revealed northern and southern genetic groups with some discordance of their distributions; however, they did not correlate with any of the two geographic gaps known as genetic barriers to animals. Approximate Bayesian computation-based inference from nuclear SSRs suggested that population divergence occurred before the last glacial maximum. Finally we discussed the implications of these results, in particular the presence of a clear pattern of historical genetic subdivision, on conservation policies. PMID:24223264

  3. Cranial and dental abnormalities of the endangered red wolf Canis rufus

    USGS Publications Warehouse

    Federoff, Nicholas E.; Nowak, Ronald M.

    1998-01-01

    Three skulls of captive-raised female endangered red wolves (Canis rufus) exhibited severe malocclusion of the jaws. Cranial and dental abnormalities (including crowding of upper toothrows, and an extra tooth behind the lower left M3 in one of the three mandibles) were also evident. Ratios of alveolar length of maxillary toothrow to maximum width across the outer sides of crowns of P4 were significantly different (p=0.008) compared to unaffected skulls. Significant differences were also evident when ratios of maximum width across inner edges of alveoli of P1 to alveolar length of maxillary toothrow and maximum width across outer sides of crowns of P4 were compared between the two groups. Although the three skulls all exhibited malocclusion, the abnormality expressed itself differently in relation to the effects to each skull. Captive inbreeding may increase the probability and frequency of expressing these anomalies, although inbreeding coefficients calculated for the wolves expressing malocclusion were not considered high (0.0313-0.0508). A wild female red wolf specimen captured in 1921 in Arkansas also exhibited the malocclusion, although not as severely as in the captive females. This demonstrates that this trait was present in wild populations prior to, and not a result of, the captive breeding program.

  4. Population genetic analysis of the recently rediscovered Hula painted frog (Latonia nigriventer) reveals high genetic diversity and low inbreeding.

    PubMed

    Perl, R G Bina; Geffen, Eli; Malka, Yoram; Barocas, Adi; Renan, Sharon; Vences, Miguel; Gafny, Sarig

    2018-04-03

    After its recent rediscovery, the Hula painted frog (Latonia nigriventer) has remained one of the world's rarest and least understood amphibian species. Together with its apparently low dispersal capability and highly disturbed niche, the low abundance of this living fossil calls for urgent conservation measures. We used 18 newly developed microsatellite loci and four different models to calculate the effective population size (N e ) of a total of 125 Hula painted frog individuals sampled at a single location. We compare the N e estimates to the estimates of potentially reproducing adults in this population (N ad ) determined through a capture-recapture study on 118 adult Hula painted frogs captured at the same site. Surprisingly, our data suggests that, despite N ad estimates of only ~234-244 and N e estimates of ~16.6-35.8, the species appears to maintain a very high genetic diversity (H O  = 0.771) and low inbreeding coefficient (F IS  = -0.018). This puzzling outcome could perhaps be explained by the hypotheses of either genetic rescue from one or more unknown Hula painted frog populations nearby or by recent admixture of genetically divergent subpopulations. Independent of which scenario is correct, the original locations of these populations still remain to be determined.

  5. FTS: Fourier transform spectrometer onboard ASTRO-F/FIS

    NASA Astrophysics Data System (ADS)

    Takahashi, Hidenori; Kawada, Mitsunobu; Murakami, Noriko; Ozawa, Keita; Shibai, Hiroshi; Nakagawa, Takao

    2003-03-01

    Far-Infrared Surveyor (FIS) is one of the two focal plane instruments of ASTRO-F which is a Japanese infrared astronomical satellite and is planned to launch in 2004. The FIS has spectroscopic capability by a Fourier transform spectrometer (FTS) covering 50-200cm-1 with spectral resolution of 0.2-0.33 cm-1 in addition to the primary purpose of FIS (an all-sky photometric survey). The Martin-Puplett interferometer is adopted as the method for spectroscopy in order to achieve high optical efficiency in a wide wavelength range. The most important issue of the FTS is the development of driving mechanism in order to scan a moving mirror with high optical performances. By the present we succeed to develop the driving mechanism satisfying a lot of limitations and requirements as a instrument onboard satellite. Furthermore the wire-grid polarizers are evaluated in optical performance, these are usable for polarized interferomter. We also measure FIR spectrum using Spectroscopy mode of FIS, and many absorption lines of H2O are detected on continuum spectrum of atmosphere. And the interferogram and spectrum are derived at low temperature (2K) that is practically used in space. The spectrum resembles expected one which are considered with optical components for flight model. The detection limit are estimated combining performances of optical components and detectors, the FISP has sufficient performance to archive objective sciences. FTS will provide a lot of astronomical information; determination of the SED in high-z objects detected by the survey observation of ASTRO-F, the redshift of such objects, and the physical conditions that are hard to be derived by optical/NIR-MIR observations, from FIR lines.

  6. Influence of Inbreeding on Female Mate Choice in Two Species of Drosophila

    PubMed Central

    McKee, Amberle A.; Newton, Shanna M.

    2016-01-01

    Many organisms have been reported to choose their mates in order to increase the heterozygosity of their offspring by avoiding mating with relatives or homozygous individuals. Most previous studies using Drosophila melanogaster have used artificial chromosomes or extreme inbreeding treatments, situations unlikely to be matched in nature. Additionally, few studies have examined the interaction between female inbreeding status and her choice of mate. Using females and males from populations that had experienced either random mating or one generation of sib-sib inbreeding, we measured the preferences of females for males. Our results indicate that outbred males were chosen more often than inbred males and that this preference may be more pronounced in outbred females than in inbred ones. PMID:29225418

  7. Inbreeding avoidance through non-random mating in sticklebacks

    PubMed Central

    Frommen, Joachim G; Bakker, Theo C.M

    2006-01-01

    Negative effects of inbreeding are well documented in a wide range of animal taxa. Hatching success and survival of inbred offspring is reduced in many species and inbred progeny are often less attractive to potential mates. Thus, individuals should avoid mating with close kin. However, experimental evidence for inbreeding avoidance through non-random mating in vertebrates is scarce. Here, we show that gravid female three-spined sticklebacks (Gasterosteus aculeatus) when given the choice between a courting familiar brother and a courting unfamiliar non-sib prefer to mate with the non-sib and thus avoid the disadvantages of incest. We controlled for differences in males' body size and red intensity of nuptial coloration. Thus, females adjust their courting behaviour to the risk of inbreeding. PMID:17148370

  8. Inbreeding avoidance through non-random mating in sticklebacks.

    PubMed

    Frommen, Joachim G; Bakker, Theo C M

    2006-06-22

    Negative effects of inbreeding are well documented in a wide range of animal taxa. Hatching success and survival of inbred offspring is reduced in many species and inbred progeny are often less attractive to potential mates. Thus, individuals should avoid mating with close kin. However, experimental evidence for inbreeding avoidance through non-random mating in vertebrates is scarce. Here, we show that gravid female three-spined sticklebacks (Gasterosteus aculeatus) when given the choice between a courting familiar brother and a courting unfamiliar non-sib prefer to mate with the non-sib and thus avoid the disadvantages of incest. We controlled for differences in males' body size and red intensity of nuptial coloration. Thus, females adjust their courting behaviour to the risk of inbreeding.

  9. The Femininity Ideology Scale (FIS): dimensions and its relationship to anxiety and feminine gender role stress.

    PubMed

    Richmond, Katherine; Levant, Ronald; Smalley, Bryant; Cook, Stephen

    2015-01-01

    The purpose of this study was to conduct a confirmatory factor analytic investigation of the Femininity Ideology Scale (FIS) and to assess whether feminine gender role stress mediated the relationship between femininity ideology and anxiety. During the 2010-2011 academic year, a convenience sample of 606 college women were recruited from three universities and one college. Confirmatory factor analysis supported a four- versus the hypothesized five-factor model, resulting in the elimination of the Dependency/Deference factor. Mediation analysis using structural equation modeling indicated no direct relationship between Femininity Ideology and Anxiety, although an indirect one was observed, mediated through Feminine Gender Role Stress. The results are discussed in terms of possible changes in contemporary notions of femininity, and the utility of using the FIS in applied therapeutic settings.

  10. Communication: Fitting potential energy surfaces with fundamental invariant neural network

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Shao, Kejie; Chen, Jun; Zhao, Zhiqiang

    A more flexible neural network (NN) method using the fundamental invariants (FIs) as the input vector is proposed in the construction of potential energy surfaces for molecular systems involving identical atoms. Mathematically, FIs finitely generate the permutation invariant polynomial (PIP) ring. In combination with NN, fundamental invariant neural network (FI-NN) can approximate any function to arbitrary accuracy. Because FI-NN minimizes the size of input permutation invariant polynomials, it can efficiently reduce the evaluation time of potential energy, in particular for polyatomic systems. In this work, we provide the FIs for all possible molecular systems up to five atoms. Potential energymore » surfaces for OH{sub 3} and CH{sub 4} were constructed with FI-NN, with the accuracy confirmed by full-dimensional quantum dynamic scattering and bound state calculations.« less

  11. The Role of Moderate Muslims in Combating Violent Jihad

    DTIC Science & Technology

    2007-12-01

    military removed Benjedid Chadli and canceled parliamentary elections in 1992, which the Front Islamique du Salut (FIS), with its platform of governing by...capitulation to the violence that preceded these restrictions (Willis, 1996, p. 78). Chadli also initiated state- financed mosque construction and...party called Front Islamique du Salut (FIS) was formed in February 1989 with Madani as its president and Belhadj, a preacher from Algiers, as his

  12. Ice-sheet dynamics through the Quaternary on the mid-Norwegian continental margin inferred from 3D seismic data.

    PubMed

    Montelli, A; Dowdeswell, J A; Ottesen, D; Johansen, S E

    2017-02-01

    Reconstructing the evolution of ice sheets is critical to our understanding of the global environmental system, but most detailed palaeo-glaciological reconstructions have hitherto focused on the very recent history of ice sheets. Here, we present a three-dimensional (3D) reconstruction of the changing nature of ice-sheet derived sedimentary architecture through the Quaternary Ice Age of almost 3 Ma. An extensive geophysical record documents a marine-terminating, calving Fennoscandian Ice Sheet (FIS) margin present periodically on the mid-Norwegian shelf since the beginning of the Quaternary. Spatial and temporal variability of the FIS is illustrated by the gradual development of fast-flowing ice streams and associated intensification of focused glacial erosion and sedimentation since that time. Buried subglacial landforms reveal a complex and dynamic ice sheet, with converging palaeo-ice streams and several flow-switching events that may reflect major changes in topography and basal thermal regime. Lack of major subglacial meltwater channels suggests a largely distributed drainage system beneath the marine-terminating part of the FIS. This palaeo-environmental examination of the FIS provides a useful framework for ice-sheet modelling and shows that fragmentary preservation of buried surfaces and variability of ice-sheet dynamics should be taken into account when reconstructing glacial history from spatially limited datasets.

  13. DNA Recognition by a σ 54 Transcriptional Activator from Aquifex aeolicus

    DOE PAGES

    Vidangos, Natasha K.; Heideker, Johanna; Lyubimov, Artem; ...

    2014-08-23

    Transcription initiation by bacterial σ 54-polymerase requires the action of a transcriptional activator protein. Activators bind sequence-specifically upstream of the transcription initiation site via a DNA-binding domain. The structurally characterized DNA-binding domains from activators all belong to the Factor for Inversion Stimulation (Fis) family of helix-turn-helix DNA-binding proteins. We report here structures of the free and DNA-bound forms of the DNA-binding domain of NtrC4 (4DBD) from Aquifex aeolicus, a member of the NtrC family of σ 54 activators. Two NtrC4 binding sites were identified upstream (-145 and -85 base pairs) from the start of the lpxC gene, which is responsiblemore » for the first committed step in Lipid A biosynthesis. This is the first experimental evidence for σ 54 regulation in lpxC expression. 4DBD was crystallized both without DNA and in complex with the -145 binding site. The structures, together with biochemical data, indicate that NtrC4 binds to DNA in a manner that is similar to that of its close homologue, Fis. Ultimately, the greater sequence specificity for the binding of 4DBD relative to Fis seems to arise from a larger number of base specific contacts contributing to affinity than for Fis.« less

  14. Distributed processing method for arbitrary view generation in camera sensor network

    NASA Astrophysics Data System (ADS)

    Tehrani, Mehrdad P.; Fujii, Toshiaki; Tanimoto, Masayuki

    2003-05-01

    Camera sensor network as a new advent of technology is a network that each sensor node can capture video signals, process and communicate them with other nodes. The processing task in this network is to generate arbitrary view, which can be requested from central node or user. To avoid unnecessary communication between nodes in camera sensor network and speed up the processing time, we have distributed the processing tasks between nodes. In this method, each sensor node processes part of interpolation algorithm to generate the interpolated image with local communication between nodes. The processing task in camera sensor network is ray-space interpolation, which is an object independent method and based on MSE minimization by using adaptive filtering. Two methods were proposed for distributing processing tasks, which are Fully Image Shared Decentralized Processing (FIS-DP), and Partially Image Shared Decentralized Processing (PIS-DP), to share image data locally. Comparison of the proposed methods with Centralized Processing (CP) method shows that PIS-DP has the highest processing speed after FIS-DP, and CP has the lowest processing speed. Communication rate of CP and PIS-DP is almost same and better than FIS-DP. So, PIS-DP is recommended because of its better performance than CP and FIS-DP.

  15. Inbreeding in Mimulus guttatus Reduces Visitation by Bumble Bee Pollinators

    PubMed Central

    Carr, David E.; Roulston, T’ai H.; Hart, Haley

    2014-01-01

    Inbreeding in plants typically reduces individual fitness but may also alter ecological interactions. This study examined the effect of inbreeding in the mixed-mating annual Mimulus guttatus on visitation by pollinators (Bombus impatiens) in greenhouse experiments. Previous studies of M. guttatus have shown that inbreeding reduced corolla size, flower number, and pollen quantity and quality. Using controlled crosses, we produced inbred and outbred families from three different M. guttatus populations. We recorded the plant genotypes that bees visited and the number of flowers probed per visit. In our first experiment, bees were 31% more likely to visit outbred plants than those selfed for one generation and 43% more likely to visit outbred plants than those selfed for two generations. Inbreeding had only a small effect on the number of flowers probed once bees arrived at a genotype. These differences were explained partially by differences in mean floral display and mean flower size, but even when these variables were controlled statistically, the effect of inbreeding remained large and significant. In a second experiment we quantified pollen viability from inbred and self plants. Bees were 37–54% more likely to visit outbred plants, depending on the population, even when controlling for floral display size. Pollen viability proved to be as important as floral display in predicting pollinator visitation in one population, but the overall explanatory power of a multiple regression model was weak. Our data suggested that bees use cues in addition to display size, flower size, and pollen reward quality in their discrimination of inbred plants. Discrimination against inbred plants could have effects on plant fitness and thereby reinforce selection for outcrossing. Inbreeding in plant populations could also reduce resource quality for pollinators, potentially resulting in negative effects on pollinator populations. PMID:25036035

  16. Recent breeding history of dog breeds in Sweden: modest rates of inbreeding, extensive loss of genetic diversity and lack of correlation between inbreeding and health.

    PubMed

    Jansson, M; Laikre, L

    2014-04-01

    One problem in modern dogs is a high occurrence of physical diseases, defects and disorders. Many breeds exhibit physical problems that affect individual dogs throughout life. A potential cause of these problems is inbreeding that is known to reduce the viability of individuals. We investigated the possible correlation between recent inbreeding and health problems in dogs and used studbook data from 26 breeds provided by the Swedish Kennel Club for this purpose. The pedigrees date back to the mid-20th century and comprise 5-10 generations and 1 000-50 000 individuals per pedigree over our study period of 1980-2010. We compared levels of inbreeding and loss of genetic variation measured in relation to the number of founding animals during this period in the investigated dog breeds that we classified as 'healthy' (11 breeds) or 'unhealthy' (15) based on statistics on the extent of veterinary care obtained from Sweden's four largest insurance companies for pets. We found extensive loss of genetic variation and moderate levels of recent inbreeding in all breeds examined, but no strong indication of a difference in these parameters between healthy versus unhealthy breeds over this period. Thus, recent breeding history with respect to rate of inbreeding does not appear to be a main cause of poor health in the investigated dog breeds in Sweden. We identified both strengths and weaknesses of the dog pedigree data important to consider in future work of monitoring and conserving genetic diversity of dog breeds. © 2013 The Authors Journal of Animal Breeding and Genetics Published by Blackwell Verlag GmbH.

  17. Genomic Variation of Inbreeding and Ancestry in the Remaining Two Isle Royale Wolves.

    PubMed

    Hedrick, Philip W; Kardos, Marty; Peterson, Rolf O; Vucetich, John A

    2017-03-01

    Inbreeding, relatedness, and ancestry have traditionally been estimated with pedigree information, however, molecular genomic data can provide more detailed examination of these properties. For example, pedigree information provides estimation of the expected value of these measures but molecular genomic data can estimate the realized values of these measures in individuals. Here, we generate the theoretical distribution of inbreeding, relatedness, and ancestry for the individuals in the pedigree of the Isle Royale wolves, the first examination of such variation in a wild population with a known pedigree. We use the 38 autosomes of the dog genome and their estimated map lengths in our genomic analysis. Although it is known that the remaining wolves are highly inbred, closely related, and descend from only 3 ancestors, our analyses suggest that there is significant variation in the realized inbreeding and relatedness around pedigree expectations. For example, the expected inbreeding in a hypothetical offspring from the 2 remaining wolves is 0.438 but the realized 95% genomic confidence interval is from 0.311 to 0.565. For individual chromosomes, a substantial proportion of the whole chromosomes are completely identical by descent. This examination provides a background to use when analyzing molecular genomic data for individual levels of inbreeding, relatedness, and ancestry. The level of variation in these measures is a function of the time to the common ancestor(s), the number of chromosomes, and the rate of recombination. In the Isle Royale wolf population, the few generations to a common ancestor results in the high variance in genomic inbreeding. © The American Genetic Association 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  18. Restricted mating dispersal and strong breeding group structure in a mid-sized marsupial mammal (Petrogale penicillata).

    PubMed

    Hazlitt, S L; Sigg, D P; Eldridge, M D B; Goldizen, A W

    2006-09-01

    Ecological genetic studies have demonstrated that spatial patterns of mating dispersal, the dispersal of gametes through mating behaviour, can facilitate inbreeding avoidance and strongly influence the structure of populations, particularly in highly philopatric species. Elements of breeding group dynamics, such as strong structuring and sex-biased dispersal among groups, can also minimize inbreeding and positively influence levels of genetic diversity within populations. Rock-wallabies are highly philopatric mid-sized mammals whose strong dependence on rocky terrain has resulted in series of discreet, small colonies in the landscape. Populations show no signs of inbreeding and maintain high levels of genetic diversity despite strong patterns of limited gene flow within and among colonies. We used this species to investigate the importance of mating dispersal and breeding group structure to inbreeding avoidance within a 'small' population. We examined the spatial patterns of mating dispersal, the extent of kinship within breeding groups, and the degree of relatedness among brush-tailed rock-wallaby breeding pairs within a colony in southeast Queensland. Parentage data revealed remarkably restricted mating dispersal and strong breeding group structuring for a mid-sized mammal. Breeding groups showed significant levels of female kinship with evidence of male dispersal among groups. We found no evidence for inbreeding avoidance through mate choice; however, anecdotal data suggest the importance of life history traits to inbreeding avoidance between first-degree relatives. We suggest that the restricted pattern of mating dispersal and strong breeding group structuring facilitates inbreeding avoidance within colonies. These results provide insight into the population structure and maintenance of genetic diversity within colonies of the threatened brush-tailed rock-wallaby.

  19. Effects of inbreeding on coastal Douglas fir growth and yield in operational plantations: a model-based approach.

    PubMed

    Wang, Tongli; Aitken, Sally N; Woods, Jack H; Polsson, Ken; Magnussen, Steen

    2004-04-01

    In advanced generation seed orchards, tradeoffs exist between genetic gain obtained by selecting the best related individuals for seed orchard populations, and potential losses due to subsequent inbreeding between these individuals. Although inbreeding depression for growth rate is strong in most forest tree species at the individual tree level, the effect of a small proportion of inbreds in seed lots on final stand yield may be less important. The effects of inbreeding on wood production of mature stands cannot be assessed empirically in the short term, thus such effects were simulated for coastal Douglas fir [ Pseudotsuga menziesii var. menziesii (Mirb.) Franco] using an individual-tree growth and yield model TASS (Tree and Stand Simulator). The simulations were based on seed set, nursery culling rates, and 10-year-old field test performance for trees resulting from crosses between unrelated individuals and for inbred trees produced through mating between half-sibs, full-sibs, parents and offspring and self-pollination. Results indicate that inclusion of a small proportion of related clones in seed orchards will have relatively low impacts on stand yields due to low probability of related individuals mating, lower probability of producing acceptable seedlings from related matings than from unrelated matings, and a greater probability of competition-induced mortality for slower growing inbred individuals than for outcrossed trees. Thus, competition reduces the losses expected due to inbreeding depression at harvest, particularly on better sites with higher planting densities and longer rotations. Slightly higher breeding values for related clones than unrelated clones would offset or exceed the effects of inbreeding resulting from related matings. Concerns regarding the maintenance of genetic diversity are more likely to limit inclusion of related clones in orchards than inbreeding depression for final stand yield.

  20. Impacts of inbreeding on bumblebee colony fitness under field conditions.

    PubMed

    Whitehorn, Penelope R; Tinsley, Matthew C; Brown, Mark J F; Darvill, Ben; Goulson, Dave

    2009-07-02

    Inbreeding and the loss of genetic diversity are known to be significant threats to small, isolated populations. Hymenoptera represent a special case regarding the impact of inbreeding. Haplodiploidy may permit purging of deleterious recessive alleles in haploid males, meaning inbreeding depression is reduced relative to diploid species. In contrast, the impact of inbreeding may be exacerbated in Hymenopteran species that have a single-locus complementary sex determination system, due to the production of sterile or inviable diploid males. We investigated the costs of brother-sister mating in the bumblebee Bombus terrestris. We compared inbred colonies that produced diploid males and inbred colonies that did not produce diploid males with outbred colonies. Mating, hibernation and colony founding took place in the laboratory. Once colonies had produced 15 offspring they were placed in the field and left to forage under natural conditions. The diploid male colonies had a significantly reduced fitness compared to regular inbred and outbred colonies; they had slower growth rates in the laboratory, survived for a shorter time period under field conditions and produced significantly fewer offspring overall. No differences in success were found between non-diploid male inbred colonies and outbred colonies. Our data illustrate that inbreeding exacts a considerable cost in Bombus terrestris through the production of diploid males. We suggest that diploid males may act as indicators of the genetic health of populations, and that their detection could be used as an informative tool in hymenopteran conservation. We conclude that whilst haplodiploids may suffer less inbreeding depression than diploid species, they are still highly vulnerable to population fragmentation and reduced genetic diversity due to the extreme costs imposed by the production of diploid males.

  1. Inbreeding and reproduction in endangered ungulates: preservation of genetic variation through the Organization of Genetic Resource Banks.

    PubMed

    Roldan, E R S; Gomendio, M; Garde, J J; Espeso, G; Ledda, S; Berlinguer, F; del Olmo, A; Soler, A J; Arregui, L; Crespo, C; González, R

    2006-10-01

    There is a constant increase in the number of species suffering marked reductions in population size. This reduction in size and the lack of genetic flow may lead to a decrease in genetic variability and to matings between close relatives (i.e. inbreeding) with an ensuing reduction in fitness. It is thus important to understand the mechanism underlying the deleterious effects of inbreeding and to develop reproductive biotechnologies that will allow the reduction of inbreeding depression by facilitating gene exchange between populations. The study of three endangered species of gazelles, Cuvier's gazelle (Gazella cuvieri), Mohor gazelle (Gazella dama mhorr) and dorcas gazelle (Gazella dorcas neglecta) has revealed that inbreeding negatively affects several semen parameters (motility, sperm morphology, acrosome integrity). Semen cryopreservation has been achieved in the three species but success varies depending on the diluent employed and the level of inbreeding. Artificial insemination of Mohor gazelles have led to the birth of the first gazelle born using frozen-thawed semen but improvements are needed before this technology can be applied on a routine basis for the genetic management of the populations. Collection of oocytes after ovarian stimulation, followed by in vitro maturation, fertilization and culture has met with some initial success in the Mohor gazelle. These, together with other reproductive technologies, will offer an invaluable help in preserving the maximum of genetic diversity of these and related endangered ungulate species.

  2. Kin discrimination and female mate choice in the naked mole-rat Heterocephalus glaber.

    PubMed

    Clarke, F M; Faulkes, C G

    1999-10-07

    Naked mole-rats are fossorial, eusocial rodents that naturally exhibit high levels of inbreeding. Persistent inbreeding in animals often results in a substantial decline in fitness and, thus, dispersal and avoidance of kin as mates are two common inbreeding avoidance mechanisms. In the naked mole-rat evidence for the former has recently been found. Here we address the latter mechanism by investigating kin recognition and female mate choice using a series of choice tests in which the odour, social and mate preferences of females were determined. Discrimination by females appears to be dependent on their reproductive status. Reproductively active females prefer to associate with unfamiliar males, whereas reproductively inactive females do not discriminate. Females do not discriminate between kin and non-kin suggesting that the criterion for recognition is familiarity, not detection of genetic similarity per se. In the wild, naked mole-rats occupy discrete burrow systems and dispersal and mixing with non-kin is thought to be comparatively rare. Thus, recognition by familiarity may function as a highly efficient kin recognition mechanism in the naked mole-rat. A preference by reproductively active females for unfamiliar males is interpreted as inbreeding avoidance. These findings suggest that, despite an evolutionary history of close inbreeding, naked mole-rats may not be exempt from the effects of inbreeding depression and will attempt to outbreed should the opportunity arise.

  3. Comparison between Inbreeding Analyses Methodologies.

    PubMed

    Esparza, Mireia; Martínez-Abadías, Neus; Sjøvold, Torstein; González-José, Rolando; Hernández, Miquel

    2015-12-01

    Surnames are widely used in inbreeding analysis, but the validity of results has often been questioned due to the failure to comply with the prerequisites of the method. Here we analyze inbreeding in Hallstatt (Austria) between the 17th and the 19th centuries both using genealogies and surnames. The high and significant correlation of the results obtained by both methods demonstrates the validity of the use of surnames in this kind of studies. On the other hand, the inbreeding values obtained (0.24 x 10⁻³ in the genealogies analysis and 2.66 x 10⁻³ in the surnames analysis) are lower than those observed in Europe for this period and for this kind of population, demonstrating the falseness of the apparent isolation of Hallstatt's population. The temporal trend of inbreeding in both analyses does not follow the European general pattern, but shows a maximum in 1850 with a later decrease along the second half of the 19th century. This is probably due to the high migration rate that is implied by the construction of transport infrastructures around the 1870's.

  4. A Maximum-Likelihood Method to Correct for Allelic Dropout in Microsatellite Data with No Replicate Genotypes

    PubMed Central

    Wang, Chaolong; Schroeder, Kari B.; Rosenberg, Noah A.

    2012-01-01

    Allelic dropout is a commonly observed source of missing data in microsatellite genotypes, in which one or both allelic copies at a locus fail to be amplified by the polymerase chain reaction. Especially for samples with poor DNA quality, this problem causes a downward bias in estimates of observed heterozygosity and an upward bias in estimates of inbreeding, owing to mistaken classifications of heterozygotes as homozygotes when one of the two copies drops out. One general approach for avoiding allelic dropout involves repeated genotyping of homozygous loci to minimize the effects of experimental error. Existing computational alternatives often require replicate genotyping as well. These approaches, however, are costly and are suitable only when enough DNA is available for repeated genotyping. In this study, we propose a maximum-likelihood approach together with an expectation-maximization algorithm to jointly estimate allelic dropout rates and allele frequencies when only one set of nonreplicated genotypes is available. Our method considers estimates of allelic dropout caused by both sample-specific factors and locus-specific factors, and it allows for deviation from Hardy–Weinberg equilibrium owing to inbreeding. Using the estimated parameters, we correct the bias in the estimation of observed heterozygosity through the use of multiple imputations of alleles in cases where dropout might have occurred. With simulated data, we show that our method can (1) effectively reproduce patterns of missing data and heterozygosity observed in real data; (2) correctly estimate model parameters, including sample-specific dropout rates, locus-specific dropout rates, and the inbreeding coefficient; and (3) successfully correct the downward bias in estimating the observed heterozygosity. We find that our method is fairly robust to violations of model assumptions caused by population structure and by genotyping errors from sources other than allelic dropout. Because the data sets imputed under our model can be investigated in additional subsequent analyses, our method will be useful for preparing data for applications in diverse contexts in population genetics and molecular ecology. PMID:22851645

  5. Inbreeding and matrimonial structure in a Pyrenean community (Ansó, Huesca, Spain), 1712-1982.

    PubMed

    Valls, A

    1985-03-01

    Using data from parish records from 1712 to 1982 in a Spanish Pyrenean village, Ansó, the effects of the raw nuptiality, the types of consanguineous marriages and the rate and evolution of inbreeding on the mating structure have been studied. This structure has been modified in the course of time mostly through the secular variations in the frequency of consanguineous marriages. Recent inbreeding decrease in Ansó is related to the population diminution and cultural changes associated with isolate breakdown.

  6. Market-Based Adult Lifelong Learning Performance Measures for Public Libraries Serving Lower Income and Majority-Minority Markets. Final Performance Report. September 1, 1996-August 31, 1999.

    ERIC Educational Resources Information Center

    Koontz, Christine; Jue, Dean K.; Lance, Keith Curry

    This document is the final performance report for a Field Initiated Studies (FIS) project that addressed the need for a better assessment of public library services for adult lifelong learning in majority-minority and lower income library market areas. After stating the major educational problem addressed by the FIS project, the report lists the…

  7. Brillouin spectroscopy of fluid inclusions proposed as a paleothermometer for subsurface rocks.

    PubMed

    El Mekki-Azouzi, Mouna; Tripathi, Chandra Shekhar Pati; Pallares, Gaël; Gardien, Véronique; Caupin, Frédéric

    2015-08-28

    As widespread, continuous instrumental Earth surface air temperature records are available only for the last hundred fifty years, indirect reconstructions of past temperatures are obtained by analyzing "proxies". Fluid inclusions (FIs) present in virtually all rock minerals including exogenous rocks are routinely used to constrain formation temperature of crystals. The method relies on the presence of a vapour bubble in the FI. However, measurements are sometimes biased by surface tension effects. They are even impossible when the bubble is absent (monophasic FI) for kinetic or thermodynamic reasons. These limitations are common for surface or subsurface rocks. Here we use FIs in hydrothermal or geodic quartz crystals to demonstrate the potential of Brillouin spectroscopy in determining the formation temperature of monophasic FIs without the need for a bubble. Hence, this novel method offers a promising way to overcome the above limitations.

  8. Simulations of Observations with the Far-Infrared Surveyor: Design Overview and Current Status

    NASA Astrophysics Data System (ADS)

    Jeong, W.; Pak, S.; Lee, H. M.; Kim, S.; Matsuura, M.; Nakagawa, T.; Yamamura, I.; Murakami, H.; Matsuura, S.; Kawada, M.; Kaneda, H.; Shibai, H.

    2000-12-01

    The Far-Infrared Surveyor (FIS) is one of the on-board instruments on the ASTRO-F satellite, which will be launched in early 2004. The first a half year of its mission period of 500 days is dedicated to an all sky survey in four bands between 50 and 200 micron. On the basis of the present hardware specifications and configurations of the FIS, we have written a computer program to simulate the FIS. The program can be used to evaluate the performance of the instrument as well as to produce input for the data reduction system. In this paper, we describe the current status of the program. As an example of the usage of the simulation program, we present the expected observing data for three different detector sampling rates. The functions which should be implemented into the program, in the future, are enumerated.

  9. Brillouin spectroscopy of fluid inclusions proposed as a paleothermometer for subsurface rocks

    PubMed Central

    Mekki-Azouzi, Mouna El; Tripathi, Chandra Shekhar Pati; Pallares, Gaël; Gardien, Véronique; Caupin, Frédéric

    2015-01-01

    As widespread, continuous instrumental Earth surface air temperature records are available only for the last hundred fifty years, indirect reconstructions of past temperatures are obtained by analyzing “proxies”. Fluid inclusions (FIs) present in virtually all rock minerals including exogenous rocks are routinely used to constrain formation temperature of crystals. The method relies on the presence of a vapour bubble in the FI. However, measurements are sometimes biased by surface tension effects. They are even impossible when the bubble is absent (monophasic FI) for kinetic or thermodynamic reasons. These limitations are common for surface or subsurface rocks. Here we use FIs in hydrothermal or geodic quartz crystals to demonstrate the potential of Brillouin spectroscopy in determining the formation temperature of monophasic FIs without the need for a bubble. Hence, this novel method offers a promising way to overcome the above limitations. PMID:26316328

  10. Recycling of organic wastes by employing Eisenia fetida.

    PubMed

    Yadav, Anoop; Garg, V K

    2011-02-01

    This paper reports the recycling of nutrients by vermicomposting of cow dung (CD), poultry droppings (PD) and food industry sludge (FIS) employing earthworms (Eisenia fetida). A total of six vermicomposting units were established and dynamics of chemical and biological parameters has been studied for 13 weeks. The waste mixture containing 50% CD+25% PD+25% FIS had better fertilizer value among studied waste combinations. At the end of experiment, vermicomposts showed decrease in pH and organic C, but increase in EC, total Kjeldhal N, total available P and total K contents. The C:N ratio of final vermicomposts also reduced to 10.7-12.7 from 22.8 to 56 in different waste combinations. The earthworms have good biomass gain and cocoon production in all vermicomposting units but CD alone and 50% CD+25% PD+25% FIS were better than other studied combinations. Copyright © 2010 Elsevier Ltd. All rights reserved.

  11. VOC and VOX in fluid inclusions of quartz: New chemical insights into hydrothermal vein mineralization by GC-MS and GC-IRMS measurements

    NASA Astrophysics Data System (ADS)

    Sattler, Tobias; Kirnbauer, Thomas; Keppler, Frank; Greule, Markus; Fischer, Jan; Spiekermann, Patrik; Schreiber, Ulrich; Mulder, Ines; Schöler, Heinz Friedrich

    2015-04-01

    Fluid inclusions (FIs) in minerals are known to contain a variety of different liquids, gases, and solids. The fluids get trapped during mineral growth and can preserve the original mineral-forming fluid or fluids of later events. A new analytical technique developed by Mulder et al. (2013) [1] allows to measure trace gases in FIs. For the measurements, grains of 3-5 mm diameter are ground in an airtight grinding device, releasing the volatiles from FIs into the gas phase, where they can be measured by GC-MS, GC-FID and GC-IRMS. The Taunus covers the southeastern part of the thrust-and-fold-belt of the Rhenish Massif (Germany). The Variscan rock sequences comprise sedimentary and volcanic units ranging from Ordovician to Lower Carboniferous. Several types of hydrothermal mineralization can be distinguished, which are - in regard to the Variscan orogeny - pre-orogenic, orogenic, late-orogenic, post-orogenic and recent in age [2]. They include SEDEX, vein, Alpine fissure, disseminated and stockwerk mineralizations. Thus, the Taunus mineralizations enable investigations of different hydrothermal systems at different age in one region. For most of them extensive studies of stable and radiogenic isotopes exist. Quartz crystals of post-orogenic quartz veins and Pb-Zn-Cu bearing veins [3] were selected for our FI investigation. Sulphur containing compounds like COS and CS2 dominate the FIs but there are also volatile hydrocarbons (VOC) like different butenes, benzene, toluene and cyclopentene that were found very often. In some samples volatile halogenated organic carbons (VOX) like chloro- and bromomethane were found. Some FIs even contain iodomethane, chlorobenzene, vinyl chloride and -bromide. The non-fossil-fuel subsurface chemistry of VOC and VOX is not fully understood. There are a lot of unknown geogenic sources [4][5]. For a better understanding δ13C- and δ2H-values of CH4 were measured by GC-IRMS to examine if the detected organic compounds are formed biotic, thermogenic or abiotic, and to investigate the relationship between aquifer rocks and FIs. Our results add new information to the evolution of FIs in hydrothermal systems and the potential role of hydrothermal fluids to the origin of life [6]. [1] Mulder et al., 2013 Chem. Geol., 358: 148-155 [2] Kirnbauer, 1998, Geologie und hydro-thermale Mineralisationen im rechtsrheinischen Schiefergebirge. - 328 pp [3] Kirnbauer et al., 2012, Ore Geol. Reviews, 48: 239-257. [4] Jordan, 2003, Handbook of Environmental Chemistry, Vol. 3, Part P: 121-139 [5] Schöler & Keppler, 2003 Handbook of Environ-mental Chemistry, Vol. 3, Part P: 63-84; [6] Schreiber et al., 2012 Origins of Life and Evolution of Biosphere, 42: 47-54.

  12. Selection with inbreeding control in simulated young bull schemes for local dairy cattle breeds.

    PubMed

    Gandini, G; Stella, A; Del Corvo, M; Jansen, G B

    2014-03-01

    Local breeds are rarely subject to modern selection techniques; however, selection programs will be required if local breeds are to remain a viable livelihood option for farmers. Selection in small populations needs to take into account accurate inbreeding control. Optimum contribution selection (OCS) is efficient in controlling inbreeding and maximizes genetic gain. The current paper investigates genetic progress in simulated dairy cattle populations from 500 to 6,000 cows undergoing young bull selection schemes with OCS compared with truncation selection (TS) at an annual inbreeding rate of 0.003. Selection is carried out for a dairy trait with a base heritability of 0.3. A young bull selection scheme was used because of its simplicity in implementation. With TS, annual genetic gain from 0.111 standard deviation units with 500 cows increases rapidly to 0.145 standard deviation units with 4,000 cows. Then, genetic gain increases more slowly up to 6,000 cows. At the same inbreeding rate, OCS produces higher genetic progress than TS. Differences in genetic gain between OCS and TS vary from to 2 to 6.3%. Genetic gain is also improved by increasing the number of years that males can be used as sires of sires. When comparing OCS versus TS at different heritabilities, we observe an advantage of OCS only at high heritability, up to 8% with heritability of 0.9. By increasing the constraint on inbreeding, the difference of genetic gain between the 2 selection methods increases in favor of OCS, and the advantage at the inbreeding rate of 0.001 per generation is 6 times more than at the inbreeding rate of 0.003. Opportunities exist for selection even in dairy cattle populations of a few hundred females. In any case, selection in local breeds will most often require specific investments in infrastructure and manpower, including systems for accurate data recording and selection skills and the presence of artificial insemination and breeders organizations. A cost-benefit analysis is therefore advisable before considering the implementation of selection schemes in local dairy cattle breeds. Copyright © 2014 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  13. Inbreeding avoidance influences the viability of reintroduced populations of African wild dogs (Lycaon pictus).

    PubMed

    Becker, Penny A; Miller, Philip S; Gunther, Micaela Szykman; Somers, Michael J; Wildt, David E; Maldonado, Jesús E

    2012-01-01

    The conservation of many fragmented and small populations of endangered African wild dogs (Lycaon pictus) relies on understanding the natural processes affecting genetic diversity, demographics, and future viability. We used extensive behavioural, life-history, and genetic data from reintroduced African wild dogs in South Africa to (1) test for inbreeding avoidance via mate selection and (2) model the potential consequences of avoidance on population persistence. Results suggested that wild dogs avoided mating with kin. Inbreeding was rare in natal packs, after reproductive vacancies, and between sibling cohorts (observed on 0.8%, 12.5%, and 3.8% of occasions, respectively). Only one of the six (16.7%) breeding pairs confirmed as third-order (or closer) kin consisted of animals that were familiar with each other, while no other paired individuals had any prior association. Computer-simulated populations allowed to experience inbreeding had only a 1.6% probability of extinction within 100 years, whereas all populations avoiding incestuous matings became extinct due to the absence of unrelated mates. Populations that avoided mating with first-order relatives became extinct after 63 years compared with persistence of 37 and 19 years for those also prevented from second-order and third-order matings, respectively. Although stronger inbreeding avoidance maintains significantly more genetic variation, our results demonstrate the potentially severe demographic impacts of reduced numbers of suitable mates on the future viability of small, isolated wild dog populations. The rapid rate of population decline suggests that extinction may occur before inbreeding depression is observed.

  14. Inbreeding depression in self-incompatible North-American Arabidopsis lyrata: disentangling genomic and S-locus-specific genetic load

    PubMed Central

    Stift, M; Hunter, B D; Shaw, B; Adam, A; Hoebe, P N; Mable, B K

    2013-01-01

    Newly formed selfing lineages may express recessive genetic load and suffer inbreeding depression. This can have a genome-wide genetic basis, or be due to loci linked to genes under balancing selection. Understanding the genetic architecture of inbreeding depression is important in the context of the maintenance of self-incompatibility and understanding the evolutionary dynamics of S-alleles. We addressed this using North-American subspecies of Arabidopsis lyrata. This species is normally self-incompatible and outcrossing, but some populations have undergone a transition to selfing. The goals of this study were to: (1) quantify the strength of inbreeding depression in North-American populations of A. lyrata; and (2) disentangle the relative contribution of S-linked genetic load compared with overall inbreeding depression. We enforced selfing in self-incompatible plants with known S-locus genotype by treatment with CO2, and compared the performance of selfed vs outcrossed progeny. We found significant inbreeding depression for germination rate (δ=0.33), survival rate to 4 weeks (δ=0.45) and early growth (δ=0.07), but not for flowering rate. For two out of four S-alleles in our design, we detected significant S-linked load reflected by an under-representation of S-locus homozygotes in selfed progeny. The presence or absence of S-linked load could not be explained by the dominance level of S-alleles. Instead, the random nature of the mutation process may explain differences in the recessive deleterious load among lineages. PMID:22892638

  15. Outbreeding effects in an inbreeding insect, Cimex lectularius.

    PubMed

    Fountain, Toby; Butlin, Roger K; Reinhardt, Klaus; Otti, Oliver

    2015-01-01

    In some species, populations with few founding individuals can be resilient to extreme inbreeding. Inbreeding seems to be the norm in the common bed bug, Cimex lectularius, a flightless insect that, nevertheless, can reach large deme sizes and persist successfully. However, bed bugs can also be dispersed passively by humans, exposing inbred populations to gene flow from genetically distant populations. The introduction of genetic variation through this outbreeding could lead to increased fitness (heterosis) or be costly by causing a loss of local adaptation or exposing genetic incompatibility between populations (outbreeding depression). Here, we addressed how inbreeding within demes and outbreeding between distant populations impact fitness over two generations in this re-emerging public health pest. We compared fitness traits of families that were inbred (mimicking reproduction following a founder event) or outbred (mimicking reproduction following a gene flow event). We found that outbreeding led to increased starvation resistance compared to inbred families, but this benefit was lost after two generations of outbreeding. No other fitness benefits of outbreeding were observed in either generation, including no differences in fecundity between the two treatments. Resilience to inbreeding is likely to result from the history of small founder events in the bed bug. Outbreeding benefits may only be detectable under stress and when heterozygosity is maximized without disruption of coadaptation. We discuss the consequences of these results both in terms of inbreeding and outbreeding in populations with genetic and spatial structuring, as well as for the recent resurgence of bed bug populations.

  16. Proteomic Characterization of Inbreeding-Related Cold Sensitivity in Drosophila melanogaster

    PubMed Central

    Beck, Hans C.; Petersen, Jørgen; Gagalova, Kristina Kirilova; Loeschcke, Volker

    2013-01-01

    Inbreeding depression is a widespread phenomenon of central importance to agriculture, medicine, conservation biology and evolutionary biology. Although the population genetic principles of inbreeding depression are well understood, we know little about its functional genomic causes. To provide insight into the molecular interplay between intrinsic stress responses, inbreeding depression and temperature tolerance, we performed a proteomic characterization of a well-defined conditional inbreeding effect in a single line of Drosophila melanogaster, which suffers from extreme cold sensitivity and lethality. We identified 48 differentially expressed proteins in a conditional lethal line as compared to two control lines. These proteins were enriched for proteins involved in hexose metabolism, in particular pyruvate metabolism, and many were found to be associated with lipid particles. These processes can be linked to known cold tolerance mechanisms, such as the production of cryoprotectants, membrane remodeling and the build-up of energy reserves. We checked mRNA-expression of seven genes with large differential protein expression. Although protein expression poorly correlated with gene expression, we found a single gene (CG18067) that, after cold shock, was upregulated in the conditional lethal line both at the mRNA and protein level. Expression of CG18067 also increased in control flies after cold shock, and has previously been linked to cold exposure and chill coma recovery time. Many differentially expressed proteins in our study appear to be involved in cold tolerance in non-inbred individuals. This suggest the conditional inbreeding effect to be caused by misregulation of physiological cold tolerance mechanisms. PMID:23658762

  17. Heterozygosity-fitness correlations among wild populations of European tree frog (Hyla arborea) detect fixation load.

    PubMed

    Luquet, E; David, P; Lena, J-P; Joly, P; Konecny, L; Dufresnes, C; Perrin, N; Plenet, S

    2011-05-01

    Quantifying the impacts of inbreeding and genetic drift on fitness traits in fragmented populations is becoming a major goal in conservation biology. Such impacts occur at different levels and involve different sets of loci. Genetic drift randomly fixes slightly deleterious alleles leading to different fixation load among populations. By contrast, inbreeding depression arises from highly deleterious alleles in segregation within a population and creates variation among individuals. A popular approach is to measure correlations between molecular variation and phenotypic performances. This approach has been mainly used at the individual level to detect inbreeding depression within populations and sometimes at the population level but without consideration about the genetic processes measured. For the first time, we used in this study a molecular approach considering both the interpopulation and intrapopulation level to discriminate the relative importance of inbreeding depression vs. fixation load in isolated and non-fragmented populations of European tree frog (Hyla arborea), complemented with interpopulational crosses. We demonstrated that the positive correlations observed between genetic heterozygosity and larval performances on merged data were mainly caused by co-variations in genetic diversity and fixation load among populations rather than by inbreeding depression and segregating deleterious alleles within populations. Such a method is highly relevant in a conservation perspective because, depending on how populations lose fitness (inbreeding vs. fixation load), specific management actions may be designed to improve the persistence of populations. © 2011 Blackwell Publishing Ltd.

  18. Alpha decay calculations with a new formula

    NASA Astrophysics Data System (ADS)

    Akrawy, D. T.; Poenaru, D. N.

    2017-10-01

    A new semi-empirical formula for calculations of α decay half-lives is presented. It was derived from the Royer relationship by introducing new parameters which are fixed by fit to a set of experimental data. We are using three sets: set A with 130 e-e (even-even), 119 e-o (even-odd), 109 o-e, and 96 o-o, set B with 188 e-e, 147 e-o, 131 o-e and 114 o-o, and set C with 136 e-e, 84 e-o, 76 o-e and 48 o-o alpha emitters. A comparison of results obtained with the new formula (newF) and the following well known relationships: semiempirical relationship based on fission theory (semFIS), analytical superasymmetric fission (ASAF) model and universal formula (UNIV) made in terms of rms standard deviation. We also introduced a weighted mean value of this quantity, allowing us to compare the global properties of a given model. For set B the order of the four models is the following: semFIS, UNIV, newF and ASAF. Nevertheless for even-even alpha emitters, UNIV gives the second best result after semFIS, and for odd-even parents the second is newF. Despite its simplicity in comparison with semFIS, newF, presented in this article, behaves quite well, competing with the other well known relationships.

  19. Impact of dental treatment under general anesthesia on the oral health-related quality of life of adolescents and adults with special needs.

    PubMed

    Chang, Juhea; Patton, Lauren L; Kim, Hae-Young

    2014-12-01

    This study aimed to assess the perception of the family's primary caregiver on the oral health-related quality of life (OHRQoL), and the impact on family dynamics, of dental treatment under general anesthesia (GA) in adolescent and adult patients with intellectual and developmental disabilities (IDD) and neurocognitive disorders. Self-administered questionnaires were completed, before dental treatment, by 116 primary family caregivers of patients who received dental treatment under GA, and 102 (88%) of these caregivers completed the same questionnaires within 4 wk after treatment. The Child Oral Health Impact Profile (COHIP) and the Family Impact Scale (FIS) were shortened to a 14-item COHIP (COHIP-14) and a 12-item FIS (FIS-12) based on the limitations of patients' communication. The COHIP-14 and FIS-12 scores and each subscale improved after treatment. The baseline scores varied based on certain characteristics of the patients, such as age, disabilities, medications, caregivers, meal types, cooperation levels, and treatment needs. The postoperative improvement in OHRQoL was significant in the patients who were older than 30 yr of age, originally eating soft meals, displaying no or very low levels of cooperation, or receiving endodontic treatment. Based on the primary caregiver perceptions, the OHRQoL of adolescents and adults with IDD and neurocognitive disorders was improved by dental treatment under GA. © 2014 Eur J Oral Sci.

  20. Heat stress but not inbreeding affects offensive sperm competitiveness in Callosobruchus maculatus

    PubMed Central

    Lieshout, Emile; Tomkins, Joseph L; Simmons, Leigh W

    2013-01-01

    Environmental and genetic stress have well-known detrimental effects on ejaculate quality, but their concomitant effect on male fitness remains poorly understood. We used competitive fertilization assays to expose the effects of stress on offensive sperm competitive ability in the beetle Callosobruchus maculatus, a species where ejaculates make up more than 5% of male body mass. To examine the effects of environmental and genetic stress, males derived from outcrosses or sib matings were heat shocked at 50°C for 50 min during the pupal stage, while their siblings were maintained at a standard rearing temperature of 28°C. Heat-shocked males achieved only half the offensive paternity success of their siblings. While this population exhibited inbreeding depression in body size, sperm competitiveness was unaffected by inbreeding, nor did the effect of heat shock stress on sperm competitiveness depend on inbreeding status. In contrast, pupal emergence success was increased by 34% among heat-stressed individuals, regardless of their inbreeding status. Heat-shocked males' ejaculate size was 19% reduced, but they exhibited 25% increased mating duration in single mating trials. Our results highlight both the importance of stress in postcopulatory sexual selection, and the variability among stressors in affecting male fitness. PMID:24101978

  1. A Review of the Implications of Heterozygosity and Inbreeding on Germplasm Biodiversity and Its Conservation in the Silkworm, Bombyx mori

    PubMed Central

    Jingade, A.H.; Vijayan, K.; Somasundaram, P.; Srivasababu, G.K.; Kamble, C.K.

    2011-01-01

    Silkworm genebanks assume paramount importance as the reservoirs of biodiversity and source of alleles that can be easily retrieved for genetic enhancement of popular breeds. More than 4000 Bombyx mori L (Lepidoptera: Bombycidae) strains are currently available and these strains are maintained through continuous sibling mating. This repeated sibling mating makes the populations of each strain more homozygous, but leads to loss of unique and valuable genes through the process of inbreeding depression. Hence, it is essential to maintain a minimal degree of heterozygosity within the population of each silkworm strain, especially in the traditional geographic strains, to avoid such loss. As a result, accurate estimation of genetic diversity is becoming more important in silkworm genetic resources conservation. Application of molecular markers help estimate genetic diversity much more accurately than that of morphological traits. Since a minimal amount of heterozygosity in each silkworm strain is essential for better conservation by avoiding inbreeding depression, this article overviews both theoretical and practical importance of heterozygosity together with impacts of inbreeding depression and the merits and demerits of neutral molecular markers for measurements of both heterozygosity and inbreeding depression in the silkworm Bombyx mori. PMID:21521139

  2. Heat stress but not inbreeding affects offensive sperm competitiveness in Callosobruchus maculatus.

    PubMed

    Lieshout, Emile; Tomkins, Joseph L; Simmons, Leigh W

    2013-09-01

    Environmental and genetic stress have well-known detrimental effects on ejaculate quality, but their concomitant effect on male fitness remains poorly understood. We used competitive fertilization assays to expose the effects of stress on offensive sperm competitive ability in the beetle Callosobruchus maculatus, a species where ejaculates make up more than 5% of male body mass. To examine the effects of environmental and genetic stress, males derived from outcrosses or sib matings were heat shocked at 50°C for 50 min during the pupal stage, while their siblings were maintained at a standard rearing temperature of 28°C. Heat-shocked males achieved only half the offensive paternity success of their siblings. While this population exhibited inbreeding depression in body size, sperm competitiveness was unaffected by inbreeding, nor did the effect of heat shock stress on sperm competitiveness depend on inbreeding status. In contrast, pupal emergence success was increased by 34% among heat-stressed individuals, regardless of their inbreeding status. Heat-shocked males' ejaculate size was 19% reduced, but they exhibited 25% increased mating duration in single mating trials. Our results highlight both the importance of stress in postcopulatory sexual selection, and the variability among stressors in affecting male fitness.

  3. A review of the implications of heterozygosity and inbreeding on germplasm biodiversity and its conservation in the silkworm, Bombyx mori.

    PubMed

    Jingade, A H; Vijayan, K; Somasundaram, P; Srivasababu, G K; Kamble, C K

    2011-01-01

    Abstract Silkworm genebanks assume paramount importance as the reservoirs of biodiversity and source of alleles that can be easily retrieved for genetic enhancement of popular breeds. More than 4000 Bombyx mori L (Lepidoptera: Bombycidae) strains are currently available and these strains are maintained through continuous sibling mating. This repeated sibling mating makes the populations of each strain more homozygous, but leads to loss of unique and valuable genes through the process of inbreeding depression. Hence, it is essential to maintain a minimal degree of heterozygosity within the population of each silkworm strain, especially in the traditional geographic strains, to avoid such loss. As a result, accurate estimation of genetic diversity is becoming more important in silkworm genetic resources conservation. Application of molecular markers help estimate genetic diversity much more accurately than that of morphological traits. Since a minimal amount of heterozygosity in each silkworm strain is essential for better conservation by avoiding inbreeding depression, this article overviews both theoretical and practical importance of heterozygosity together with impacts of inbreeding depression and the merits and demerits of neutral molecular markers for measurements of both heterozygosity and inbreeding depression in the silkworm Bombyx mori.

  4. Genetic diversity of dog breeds: within-breed diversity comparing genealogical and molecular data.

    PubMed

    Leroy, G; Verrier, E; Meriaux, J C; Rognon, X

    2009-06-01

    The genetic diversity of 61 dog breeds raised in France was investigated. Genealogical analyses were performed on the pedigree file of the French kennel club. A total of 1514 dogs were also genotyped using 21 microsatellite markers. For animals born from 2001 to 2005, the average coefficient of inbreeding ranged from 0.2% to 8.8% and the effective number of ancestors ranged from 9 to 209, according to the breed. The mean value of heterozygosity was 0.62 over all breeds (range 0.37-0.77). At the breed level, few correlations were found between genealogical and molecular parameters. Kinship coefficients and individual similarity estimators were, however, significantly correlated, with the best mean correlation being found for the Lynch & Ritland estimator (r = 0.43). According to both approaches, it was concluded that special efforts should be made to maintain diversity for three breeds, namely the Berger des Pyrénées, Braque Saint-Germain and Bull Terrier.

  5. How Much Does Inbreeding Reduce Heterozygosity? Empirical Results from Aedes aegypti

    PubMed Central

    Powell, Jeffrey R.; Evans, Benjamin R.

    2017-01-01

    Deriving strains of mosquitoes with reduced genetic variation is useful, if not necessary, for many genetic studies. Inbreeding is the standard way of achieving this. Full-sib inbreeding the mosquito Aedes aegypti for seven generations reduced heterozygosity to 72% of the initial heterozygosity in contrast to the expected 13%. This deviation from expectations is likely due to high frequencies of deleterious recessive alleles that, given the number of markers studied (27,674 single nucleotide polymorphisms [SNPs]), must be quite densely spread in the genome. PMID:27799643

  6. Fitness Costs Predict Inbreeding Aversion Irrespective of Self-Involvement: Support for Hypotheses Derived from Evolutionary Theory

    PubMed Central

    Antfolk, Jan; Lieberman, Debra; Santtila, Pekka

    2012-01-01

    It is expected that in humans, the lowered fitness of inbred offspring has produced a sexual aversion between close relatives. Generally, the strength of this aversion depends on the degree of relatedness between two individuals, with closer relatives inciting greater aversion than more distant relatives. Individuals are also expected to oppose acts of inbreeding that do not include the self, as inbreeding between two individuals posits fitness costs not only to the individuals involved in the sexual act, but also to their biological relatives. Thus, the strength of inbreeding aversion should be predicted by the fitness costs an inbred child posits to a given individual, irrespective of this individual’s actual involvement in the sexual act. To test this prediction, we obtained information about the family structures of 663 participants, who reported the number of same-sex siblings, opposite-sex siblings, opposite-sex half siblings and opposite-sex cousins. Each participant was presented with three different types of inbreeding scenarios: 1) Participant descriptions, in which participants themselves were described as having sex with an actual opposite-sex relative (sibling, half sibling, or cousin); 2) Related third-party descriptions, in which participants’ actual same-sex siblings were described as having sex with their actual opposite-sex relatives; 3) Unrelated third-party descriptions, in which individuals of the same sex as the participants but unrelated to them were described as having sex with opposite-sex relatives. Participants rated each description on the strength of sexual aversion (i.e., disgust-reaction). We found that unrelated third-party descriptions elicited less disgust than related third-party and participant descriptions. Related third-party and participant descriptions elicited similar levels of disgust suggesting that the strength of inbreeding aversion is predicted by inclusive fitness costs. Further, in the related and unrelated conditions alike, the strength of inbreeding aversion was positively associated with the degree of relatedness between those described in the descriptions. PMID:23209792

  7. Triangle singularity enhancing isospin violation in {\\bar{{\\rm{B}}}}_{{\\rm{s}}}^{0}\\to {\\rm{J}}/{\\rm{\\psi }}{\\pi }^{0}{{\\rm{f}}}_{0}(980)

    NASA Astrophysics Data System (ADS)

    Liang, Wei-Hong; Sakai, S.; Xie, Ju-Jun; Oset, E.

    2018-04-01

    We perform calculations for the {\\bar{{{B}}}}{{s}}0\\to {{J}}/{{\\psi }}{π }0{{{f}}}0(980) and {\\bar{{{B}}}}{{s}}0\\to {{J}}/{{\\psi }}{π }0{{{a}}}0(980) reactions, showing that the first is isospin-suppressed while the second is isospin-allowed. The reaction proceeds via a triangle mechanism, with {\\bar{{{B}}}}{{s}}0\\to {{J}}/{{\\psi }}{{{K}}}{{* }}\\bar{{{K}}}+{{c}}.{{c}}., followed by the decay K* → Kπ and a further fusion of {{K}}\\bar{{{K}}} into the {{{f}}}0(980) or a0(980). We show that the mechanism develops a singularity around the π0 f0(980) or π0 a0(980) invariant mass of 1420 MeV, where the π0 f0 and π0 a0 decay modes are magnified and also the ratio of π0 f0 to π0 a0 production. Using experimental information for the {\\bar{{{B}}}}{{s}}0\\to {{J}}/{{\\psi }}{{{K}}}{{* }}\\bar{{{K}}}+{{c}}.{{c}}. decay, we are able to obtain absolute values for the reactions studied which fall into the experimentally accessible range. The reactions proposed and the observables evaluated, when contrasted with actual experiments, should be very valuable to obtain information on the nature of the low lying scalar mesons. Supported by National Natural Science Foundation of China (11565007, 11747307, 11647309, 11735003, 11475227), the Youth Innovation Promotion Association CAS (2016367). This work is also partly supported by the Spanish Ministerio de Economia y Com- petitividad and European FEDER funds (FIS2011-28853-C02-01, FIS2011-28853-C02-02, FIS2014-57026-REDT, FIS2014-51948-C2-1-P, FIS2014-51948-C2-2-P) and the Generalitat Valenciana in the program Prometeo (II-2014/068)

  8. Comparative analysis of the immunologic response induced by the Sterne 34F2 live spore Bacillus anthracis vaccine in a ruminant model.

    PubMed

    Ndumnego, Okechukwu C; Köhler, Susanne M; Crafford, Jannie; van Heerden, Henriette; Beyer, Wolfgang

    2016-10-01

    The Sterne 34F2 live spore vaccine (SLSV) developed in 1937 is the most widely used veterinary vaccine against anthrax. However, literature on the immunogenicity of this vaccine in a target ruminant host is scarce. In this study, we evaluated the humoral response to the Bacillus anthracis protective antigen (rPA), a recombinant bacillus collagen-like protein of anthracis (rBclA), formaldehyde inactivated spores (FIS) prepared from strain 34F2 and a vegetative antigen formulation prepared from a capsule and toxin deficient strain (CDC 1014) in Boer goats. The toxin neutralizing ability of induced antibodies was evaluated using an in vitro toxin neutralization assay. The protection afforded by the vaccine was also assessed in vaccinates. Anti-rPA, anti-FIS and lethal toxin neutralizing titres were superior after booster vaccinations, compared to single vaccinations. Qualitative analysis of humoral responses to rPA, rBclA and FIS antigens revealed a preponderance of anti-FIS IgG titres following either single or double vaccinations with the SLSV. Antibodies against FIS and rPA both increased by 350 and 300-fold following revaccinations respectively. There was no response to rBclA following vaccinations with the SLSV. Toxin neutralizing titres increased by 80-fold after single vaccination and 700-fold following a double vaccination. Lethal challenge studies in naïve goats indicated a minimum infective dose of 36 B. anthracis spores. Single and double vaccination with the SLSV protected 4/5 and 3/3 of goats challenged with>800 spores respectively. An early booster vaccination following the first immunization is suggested in order to achieve a robust immunity. Results from this study indicate that this crucial second vaccination can be administered as early as 3 months after the initial vaccination. Copyright © 2016 Elsevier B.V. All rights reserved.

  9. Reconstruction of head impacts in FIS World Cup alpine skiing.

    PubMed

    Steenstrup, Sophie Elspeth; Mok, Kam-Ming; McIntosh, Andrew S; Bahr, Roald; Krosshaug, Tron

    2018-06-01

    Prior to the 2013/2014 season, the International Ski Federation (FIS) increased the helmet testing speed from 5.4 to 6.8 m/s for alpine downhill, super-G and giant slalom. Whether this increased testing speed reflects head impact velocities in real head injury situations on snow is unclear. We therefore investigated the injury mechanisms and gross head impact biomechanics in seven real head injury situations among World Cup (WC) alpine skiers. We analysed nine head impacts from seven head injury videos from the FIS Injury Surveillance System, throughout nine WC seasons (2006-2015) in detail. We used commercial video-based motion analysis software to estimate head impact kinematics in two dimensions, including directly preimpact and postimpact, from broadcast video. The sagittal plane angular movement of the head was also measured using angle measurement software. In seven of nine head impacts, the estimated normal to slope preimpact velocity was higher than the current FIS helmet rule of 6.8 m/s (mean 8.1 (±SD 0.6) m/s, range 1.9±0.8 to 12.1±0.4 m/s). The nine head impacts had a mean normal to slope velocity change of 9.3±1.0 m/s, range 5.2±1.1 to 13.5±1.3 m/s. There was a large change in sagittal plane angular velocity (mean 43.3±2.9 rad/s (range 21.2±1.5 to 64.2±3.0 rad/s)) during impact. The estimated normal to slope preimpact velocity was higher than the current FIS helmet rule of 6.8 m/s in seven of nine head impacts. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  10. The relationship between familial resemblance and sexual attraction: an update on Westermarck, Freud, and the incest taboo.

    PubMed

    Lieberman, Debra; Fessler, Daniel M T; Smith, Adam

    2011-09-01

    Foundational principles of evolutionary theory predict that inbreeding avoidance mechanisms should exist in all species--including humans--in which close genetic relatives interact during periods of sexual maturity. Voluminous empirical evidence, derived from diverse taxa, supports this prediction. Despite such results, Fraley and Marks claim to provide evidence that humans are sexually attracted to close genetic relatives and that such attraction is held in check by cultural taboos. Here, the authors show that Fraley and Marks, in their search for an alternate explanation of inbreeding avoidance, misapply theoretical constructs from evolutionary biology and social psychology, leading to an incorrect interpretation of their results. The authors propose that Fraley and Marks's central findings can be explained in ways consistent with existing evolutionary models of inbreeding avoidance. The authors conclude that appropriate application of relevant theory and stringent experimental design can generate fruitful investigations into sexual attraction, inbreeding avoidance, and incest taboos.

  11. Applying the ’Forward Strategy of Freedom’ to Tunisia: A Case Study in the Global War on Terrorism

    DTIC Science & Technology

    2004-03-19

    movement is centered on the history of the Islamic Tendency Movement (MTI- Mouvement de la Tendance Islamique ), which was founded in 1981. In 1988...years of one-party rule. Mohammed Hamdi identifies the 12 June1990 election victory of the FIS (Front Islamique du Salut, Islamic Salvation Front) party...elections. The FIS was disbanded in March 1992, and the GIA (Groupe Islamique Armee, Armed Islamic Group) would evolve, as Algeria slid into a five year

  12. Banded mongooses avoid inbreeding when mating with members of the same natal group.

    PubMed

    Sanderson, Jennifer L; Wang, Jinliang; Vitikainen, Emma I K; Cant, Michael A; Nichols, Hazel J

    2015-07-01

    Inbreeding and inbreeding avoidance are key factors in the evolution of animal societies, influencing dispersal and reproductive strategies which can affect relatedness structure and helping behaviours. In cooperative breeding systems, individuals typically avoid inbreeding through reproductive restraint and/or dispersing to breed outside their natal group. However, where groups contain multiple potential mates of varying relatedness, strategies of kin recognition and mate choice may be favoured. Here, we investigate male mate choice and female control of paternity in the banded mongoose (Mungos mungo), a cooperatively breeding mammal where both sexes are often philopatric and mating between relatives is known to occur. We find evidence suggestive of inbreeding depression in banded mongooses, indicating a benefit to avoiding breeding with relatives. Successfully breeding pairs were less related than expected under random mating, which appeared to be driven by both male choice and female control of paternity. Male banded mongooses actively guard females to gain access to mating opportunities, and this guarding behaviour is preferentially directed towards less closely related females. Guard-female relatedness did not affect the guard's probability of gaining reproductive success. However, where mate-guards are unsuccessful, they lose paternity to males that are less related to the females than themselves. Together, our results suggest that both sexes of banded mongoose use kin discrimination to avoid inbreeding. Although this strategy appears to be rare among cooperative breeders, it may be more prominent in species where relatedness to potential mates is variable, and/or where opportunities for dispersal and mating outside of the group are limited. © 2015 John Wiley & Sons Ltd.

  13. A spatial genetic structure and effects of relatedness on mate choice in a wild bird population.

    PubMed

    Foerster, K; Valcu, M; Johnsen, A; Kempenaers, B

    2006-12-01

    Inbreeding depression, as commonly found in natural populations, should favour the evolution of inbreeding avoidance mechanisms. If natal dispersal, the first and probably most effective mechanism, does not lead to a complete separation of males and females from a common origin, a small-scale genetic population structure may result and other mechanisms to avoid inbreeding may exist. We studied the genetic population structure and individual mating patterns in blue tits (Parus caeruleus). The population showed a local genetic structure in two out of four years: genetic relatedness between individuals (estimated from microsatellite markers) decreased with distance. This pattern was mainly caused by immigrants to the study area; these, if paired with fellow immigrants, were more related than expected by chance. Since blue tits did not avoid inbreeding with their social partner, we examined if individuals preferred less related partners at later stages of the mate choice process. We found no evidence that females or males avoided inbreeding through extra-pair copulations or through mate desertion and postbreeding dispersal. Although the small-scale genetic population structure suggests that blue tits could use a simple rule of thumb to select less related mates, females did not generally prefer more distantly breeding extra-pair partners. However, the proportion of young fathered by an extra-pair male in mixed paternity broods depended on the genetic relatedness with the female. This suggests that there is a fertilization bias towards less related copulation partners and that blue tits are able to reduce the costs of inbreeding through a postcopulatory process.

  14. Inbreeding Avoidance Influences the Viability of Reintroduced Populations of African Wild Dogs (Lycaon pictus)

    PubMed Central

    Becker, Penny A.; Miller, Philip S.; Gunther, Micaela Szykman; Somers, Michael J.; Wildt, David E.; Maldonado, Jesús E.

    2012-01-01

    The conservation of many fragmented and small populations of endangered African wild dogs (Lycaon pictus) relies on understanding the natural processes affecting genetic diversity, demographics, and future viability. We used extensive behavioural, life-history, and genetic data from reintroduced African wild dogs in South Africa to (1) test for inbreeding avoidance via mate selection and (2) model the potential consequences of avoidance on population persistence. Results suggested that wild dogs avoided mating with kin. Inbreeding was rare in natal packs, after reproductive vacancies, and between sibling cohorts (observed on 0.8%, 12.5%, and 3.8% of occasions, respectively). Only one of the six (16.7%) breeding pairs confirmed as third-order (or closer) kin consisted of animals that were familiar with each other, while no other paired individuals had any prior association. Computer-simulated populations allowed to experience inbreeding had only a 1.6% probability of extinction within 100 years, whereas all populations avoiding incestuous matings became extinct due to the absence of unrelated mates. Populations that avoided mating with first-order relatives became extinct after 63 years compared with persistence of 37 and 19 years for those also prevented from second-order and third-order matings, respectively. Although stronger inbreeding avoidance maintains significantly more genetic variation, our results demonstrate the potentially severe demographic impacts of reduced numbers of suitable mates on the future viability of small, isolated wild dog populations. The rapid rate of population decline suggests that extinction may occur before inbreeding depression is observed. PMID:22615933

  15. Fine-scale spatial genetic structure of common and declining bumble bees across an agricultural landscape.

    PubMed

    Dreier, Stephanie; Redhead, John W; Warren, Ian A; Bourke, Andrew F G; Heard, Matthew S; Jordan, William C; Sumner, Seirian; Wang, Jinliang; Carvell, Claire

    2014-07-01

    Land-use changes have threatened populations of many insect pollinators, including bumble bees. Patterns of dispersal and gene flow are key determinants of species' ability to respond to land-use change, but have been little investigated at a fine scale (<10 km) in bumble bees. Using microsatellite markers, we determined the fine-scale spatial genetic structure of populations of four common Bombus species (B. terrestris, B. lapidarius, B. pascuorum and B. hortorum) and one declining species (B. ruderatus) in an agricultural landscape in Southern England, UK. The study landscape contained sown flower patches representing agri-environment options for pollinators. We found that, as expected, the B. ruderatus population was characterized by relatively low heterozygosity, number of alleles and colony density. Across all species, inbreeding was absent or present but weak (FIS  = 0.01-0.02). Using queen genotypes reconstructed from worker sibships and colony locations estimated from the positions of workers within these sibships, we found that significant isolation by distance was absent in B. lapidarius, B. hortorum and B. ruderatus. In B. terrestris and B. pascuorum, it was present but weak; for example, in these two species, expected relatedness of queens founding colonies 1 m apart was 0.02. These results show that bumble bee populations exhibit low levels of spatial genetic structure at fine spatial scales, most likely because of ongoing gene flow via widespread queen dispersal. In addition, the results demonstrate the potential for agri-environment scheme conservation measures to facilitate fine-scale gene flow by creating a more even distribution of suitable habitats across landscapes. © 2014 The Authors. Molecular Ecology Published by John Wiley & Sons Ltd.

  16. Highly asymmetric fine-scale genetic structure between sexes of African striped mice and indication for condition dependent alternative male dispersal tactics.

    PubMed

    Solmsen, N; Johannesen, J; Schradin, C

    2011-04-01

    Sex-biased dispersal is observed in many taxa, but few studies have compared sex-biased dispersal among and within populations. We addressed the magnitude and habitat dependency of sex-biased dispersal in social African striped mice by separating group-related from population-related genetic variance to understand the contribution of each sex to deme structure. As dispersal over unoccupied habitat is likely to be more costly than dispersal within a population, we predicted that individuals leaving the natal population have a lower body condition, being inferior to heavier territorial individuals. Fine-scale genetic structure was detected in both sexes. Female relatedness decreased continuously from R = 0.21 at 25 m to zero at 500 m. Maximum male relatedness R = 0.05 was constant at distances between 25 and 75 m, becoming zero at 100 m. Genetic variance (F(ST) ) among seven locations was significantly higher in females than in males, while inbreeding estimates (F(IS) ) were significantly higher in males than in females. Assignment tests estimated significantly more migrants among males, while Bayesian clustering estimated only a single genetic unit cluster for males among the seven locations. The mean body mass of migrant males (44 g) was significantly lower than for males that remained resident and thus dispersed within their sub-population (48 g). Combined, the results showed habitat-independent male-biased dispersal and high female philopatry, and suggested that body condition was more important than kinship in male dispersal decisions. We suggest that locally inferior males are important for gene flow between sub-populations. Thus, males might follow alternative dispersal tactics. © 2011 Blackwell Publishing Ltd.

  17. Genetic diversity and patterns of population structure in Creole goats from the Americas.

    PubMed

    Ginja, C; Gama, L T; Martínez, A; Sevane, N; Martin-Burriel, I; Lanari, M R; Revidatti, M A; Aranguren-Méndez, J A; Bedotti, D O; Ribeiro, M N; Sponenberg, P; Aguirre, E L; Alvarez-Franco, L A; Menezes, M P C; Chacón, E; Galarza, A; Gómez-Urviola, N; Martínez-López, O R; Pimenta-Filho, E C; da Rocha, L L; Stemmer, A; Landi, V; Delgado-Bermejo, J V

    2017-06-01

    Biodiversity studies are more efficient when large numbers of breeds belonging to several countries are involved, as they allow for an in-depth analysis of the within- and between-breed components of genetic diversity. A set of 21 microsatellites was used to investigate the genetic composition of 24 Creole goat breeds (910 animals) from 10 countries to estimate levels of genetic variability, infer population structure and understand genetic relationships among populations across the American continent. Three commercial transboundary breeds were included in the analyses to investigate admixture with Creole goats. Overall, the genetic diversity of Creole populations (mean number of alleles = 5.82 ± 1.14, observed heterozygosity = 0.585 ± 0.074) was moderate and slightly lower than what was detected in other studies with breeds from other regions. The Bayesian clustering analysis without prior information on source populations identified 22 breed clusters. Three groups comprised more than one population, namely from Brazil (Azul and Graúna; Moxotó and Repartida) and Argentina (Long and shorthair Chilluda, Pampeana Colorada and Angora-type goat). Substructure was found in Criolla Paraguaya. When prior information on sample origin was considered, 92% of the individuals were assigned to the source population (threshold q ≥ 0.700). Creole breeds are well-differentiated entities (mean coefficient of genetic differentiation = 0.111 ± 0.048, with the exception of isolated island populations). Dilution from admixture with commercial transboundary breeds appears to be negligible. Significant levels of inbreeding were detected (inbreeding coefficient > 0 in most Creole goat populations, P < 0.05). Our results provide a broad perspective on the extant genetic diversity of Creole goats, however further studies are needed to understand whether the observed geographical patterns of population structure may reflect the mode of goat colonization in the Americas. © 2017 Stichting International Foundation for Animal Genetics.

  18. Epidemiology, presentation and population genetics of patent ductus arteriosus (PDA) in the Dutch Stabyhoun dog.

    PubMed

    den Toom, Marjolein L; Meiling, Agnes E; Thomas, Rachel E; Leegwater, Peter A J; Heuven, Henri C M

    2016-06-13

    Patent ductus arteriosus (PDA) is one of the most common congenital heart defects in dogs and is considered to be a complex, polygenic threshold trait for which a female sex predisposition has been described. Histological studies in dogs suggest that smooth muscle hypoplasia and asymmetry of the ductus tissue is the major cause of PDA. The Stabyhoun population is small and a predisposition for PDA has been suggested. The aims of this study were to describe the incidence, presentation from a clinical and histopathological perspective, and the population genetics of PDA in the Dutch Stabyhoun population. Forty-six cases were identified between 2000 and 2013. Between 2009 and 2012 the birth incidence of PDA in the Stabyhoun breed was 1.05 %. We estimated this to be 7-13 times higher than expected in the general dog population. Twelve of the 46 cases were part of a litter in which more than one sibling was affected. There was no sex predilection in our case cohort. Dogs diagnosed in adulthood showed severe cardiomegaly. The mean inbreeding coefficient of the reference population of Stabyhoun dogs was 31.4 % and the actual and effective numbers of founders were 14 and 6.5, respectively. The heritability of PDA was 0.51 (±0.09) for the reference population and 0.41 (±0.10) for the phenotyped population. Histopathology of sections of the PDA from two dogs showed findings similar to those described in other breeds although the smooth muscle of the ductus adjacent to the pulmonary artery appeared more hypoplastic than that in the ductus adjacent to the aorta. The Stabyhoun breed shows a strong predisposition for PDA. Apart from the absence of a higher incidence in females, no other significant features distinguish PDA in Stabyhouns from the condition in other dog breeds. Heritability and the mean inbreeding coefficient are both very high making the Dutch Stabyhoun breed particularly suited to the study of inherited risk factors for PDA.

  19. Trends in genome-wide and region-specific genetic diversity in the Dutch-Flemish Holstein-Friesian breeding program from 1986 to 2015.

    PubMed

    Doekes, Harmen P; Veerkamp, Roel F; Bijma, Piter; Hiemstra, Sipke J; Windig, Jack J

    2018-04-11

    In recent decades, Holstein-Friesian (HF) selection schemes have undergone profound changes, including the introduction of optimal contribution selection (OCS; around 2000), a major shift in breeding goal composition (around 2000) and the implementation of genomic selection (GS; around 2010). These changes are expected to have influenced genetic diversity trends. Our aim was to evaluate genome-wide and region-specific diversity in HF artificial insemination (AI) bulls in the Dutch-Flemish breeding program from 1986 to 2015. Pedigree and genotype data (~ 75.5 k) of 6280 AI-bulls were used to estimate rates of genome-wide inbreeding and kinship and corresponding effective population sizes. Region-specific inbreeding trends were evaluated using regions of homozygosity (ROH). Changes in observed allele frequencies were compared to those expected under pure drift to identify putative regions under selection. We also investigated the direction of changes in allele frequency over time. Effective population size estimates for the 1986-2015 period ranged from 69 to 102. Two major breakpoints were observed in genome-wide inbreeding and kinship trends. Around 2000, inbreeding and kinship levels temporarily dropped. From 2010 onwards, they steeply increased, with pedigree-based, ROH-based and marker-based inbreeding rates as high as 1.8, 2.1 and 2.8% per generation, respectively. Accumulation of inbreeding varied substantially across the genome. A considerable fraction of markers showed changes in allele frequency that were greater than expected under pure drift. Putative selected regions harboured many quantitative trait loci (QTL) associated to a wide range of traits. In consecutive 5-year periods, allele frequencies changed more often in the same direction than in opposite directions, except when comparing the 1996-2000 and 2001-2005 periods. Genome-wide and region-specific diversity trends reflect major changes in the Dutch-Flemish HF breeding program. Introduction of OCS and the shift in breeding goal were followed by a drop in inbreeding and kinship and a shift in the direction of changes in allele frequency. After introduction of GS, rates of inbreeding and kinship increased substantially while allele frequencies continued to change in the same direction as before GS. These results provide insight in the effect of breeding practices on genomic diversity and emphasize the need for efficient management of genetic diversity in GS schemes.

  20. Genomic analysis for managing small and endangered populations: a case study in Tyrol Grey cattle

    PubMed Central

    Mészáros, Gábor; Boison, Solomon A.; Pérez O'Brien, Ana M.; Ferenčaković, Maja; Curik, Ino; Da Silva, Marcos V. Barbosa; Utsunomiya, Yuri T.; Garcia, Jose F.; Sölkner, Johann

    2015-01-01

    Analysis of genomic data is increasingly becoming part of the livestock industry. Therefore, the routine collection of genomic information would be an invaluable resource for effective management of breeding programs in small, endangered populations. The objective of the paper was to demonstrate how genomic data could be used to analyse (1) linkage disequlibrium (LD), LD decay and the effective population size (NeLD); (2) Inbreeding level and effective population size (NeROH) based on runs of homozygosity (ROH); (3) Prediction of genomic breeding values (GEBV) using small within-breed and genomic information from other breeds. The Tyrol Grey population was used as an example, with the goal to highlight the potential of genomic analyses for small breeds. In addition to our own results we discuss additional use of genomics to assess relatedness, admixture proportions, and inheritance of harmful variants. The example data set consisted of 218 Tyrol Grey bull genotypes, which were all available AI bulls in the population. After standard quality control restrictions 34,581 SNPs remained for the analysis. A separate quality control was applied to determine ROH levels based on Illumina GenCall and Illumina GenTrain scores, resulting into 211 bulls and 33,604 SNPs. LD was computed as the squared correlation coefficient between SNPs within a 10 mega base pair (Mb) region. ROHs were derived based on regions covering at least 4, 8, and 16 Mb, suggesting that animals had common ancestors approximately 12, 6, and 3 generations ago, respectively. The corresponding mean inbreeding coefficients (FROH) were 4.0% for 4 Mb, 2.9% for 8 Mb and 1.6% for 16 Mb runs. With an average generation interval of 5.66 years, estimated NeROH was 125 (NeROH>16 Mb), 186 (NeROH>8 Mb) and 370 (NeROH>4 Mb) indicating strict avoidance of close inbreeding in the population. The LD was used as an alternative method to infer the population history and the Ne. The results show a continuous decrease in NeLD, to 780, 120, and 80 for 100, 10, and 5 generations ago, respectively. Genomic selection was developed for and is working well in large breeds. The same methodology was applied in Tyrol Grey cattle, using different reference populations. Contrary to the expectations, the accuracy of GEBVs with very small within breed reference populations were very high, between 0.13–0.91 and 0.12–0.63, when estimated breeding values and deregressed breeding values were used as pseudo-phenotypes, respectively. Subsequent analyses confirmed the high accuracies being a consequence of low reliabilities of pseudo-phenotypes in the validation set, thus being heavily influenced by parent averages. Multi-breed and across breed reference sets gave inconsistent and lower accuracies. Genomic information may have a crucial role in management of small breeds, even if its primary usage differs from that of large breeds. It allows to assess relatedness between individuals, trends in inbreeding and to take decisions accordingly. These decisions would be based on the real genome architecture, rather than conventional pedigree information, which can be missing or incomplete. We strongly suggest the routine genotyping of all individuals that belong to a small breed in order to facilitate the effective management of endangered livestock populations. PMID:26074948

  1. Genomic analysis for managing small and endangered populations: a case study in Tyrol Grey cattle.

    PubMed

    Mészáros, Gábor; Boison, Solomon A; Pérez O'Brien, Ana M; Ferenčaković, Maja; Curik, Ino; Da Silva, Marcos V Barbosa; Utsunomiya, Yuri T; Garcia, Jose F; Sölkner, Johann

    2015-01-01

    Analysis of genomic data is increasingly becoming part of the livestock industry. Therefore, the routine collection of genomic information would be an invaluable resource for effective management of breeding programs in small, endangered populations. The objective of the paper was to demonstrate how genomic data could be used to analyse (1) linkage disequlibrium (LD), LD decay and the effective population size (NeLD); (2) Inbreeding level and effective population size (NeROH) based on runs of homozygosity (ROH); (3) Prediction of genomic breeding values (GEBV) using small within-breed and genomic information from other breeds. The Tyrol Grey population was used as an example, with the goal to highlight the potential of genomic analyses for small breeds. In addition to our own results we discuss additional use of genomics to assess relatedness, admixture proportions, and inheritance of harmful variants. The example data set consisted of 218 Tyrol Grey bull genotypes, which were all available AI bulls in the population. After standard quality control restrictions 34,581 SNPs remained for the analysis. A separate quality control was applied to determine ROH levels based on Illumina GenCall and Illumina GenTrain scores, resulting into 211 bulls and 33,604 SNPs. LD was computed as the squared correlation coefficient between SNPs within a 10 mega base pair (Mb) region. ROHs were derived based on regions covering at least 4, 8, and 16 Mb, suggesting that animals had common ancestors approximately 12, 6, and 3 generations ago, respectively. The corresponding mean inbreeding coefficients (F ROH) were 4.0% for 4 Mb, 2.9% for 8 Mb and 1.6% for 16 Mb runs. With an average generation interval of 5.66 years, estimated NeROH was 125 (NeROH>16 Mb), 186 (NeROH>8 Mb) and 370 (NeROH>4 Mb) indicating strict avoidance of close inbreeding in the population. The LD was used as an alternative method to infer the population history and the Ne. The results show a continuous decrease in NeLD, to 780, 120, and 80 for 100, 10, and 5 generations ago, respectively. Genomic selection was developed for and is working well in large breeds. The same methodology was applied in Tyrol Grey cattle, using different reference populations. Contrary to the expectations, the accuracy of GEBVs with very small within breed reference populations were very high, between 0.13-0.91 and 0.12-0.63, when estimated breeding values and deregressed breeding values were used as pseudo-phenotypes, respectively. Subsequent analyses confirmed the high accuracies being a consequence of low reliabilities of pseudo-phenotypes in the validation set, thus being heavily influenced by parent averages. Multi-breed and across breed reference sets gave inconsistent and lower accuracies. Genomic information may have a crucial role in management of small breeds, even if its primary usage differs from that of large breeds. It allows to assess relatedness between individuals, trends in inbreeding and to take decisions accordingly. These decisions would be based on the real genome architecture, rather than conventional pedigree information, which can be missing or incomplete. We strongly suggest the routine genotyping of all individuals that belong to a small breed in order to facilitate the effective management of endangered livestock populations.

  2. Modeling and Detecting Feature Interactions among Integrated Services of Home Network Systems

    NASA Astrophysics Data System (ADS)

    Igaki, Hiroshi; Nakamura, Masahide

    This paper presents a framework for formalizing and detecting feature interactions (FIs) in the emerging smart home domain. We first establish a model of home network system (HNS), where every networked appliance (or the HNS environment) is characterized as an object consisting of properties and methods. Then, every HNS service is defined as a sequence of method invocations of the appliances. Within the model, we next formalize two kinds of FIs: (a) appliance interactions and (b) environment interactions. An appliance interaction occurs when two method invocations conflict on the same appliance, whereas an environment interaction arises when two method invocations conflict indirectly via the environment. Finally, we propose offline and online methods that detect FIs before service deployment and during execution, respectively. Through a case study with seven practical services, it is shown that the proposed framework is generic enough to capture feature interactions in HNS integrated services. We also discuss several FI resolution schemes within the proposed framework.

  3. Two web-based laboratories of the FisL@bs network: Hooke's and Snell's laws

    NASA Astrophysics Data System (ADS)

    de la Torre, L.; Sánchez, J.; Dormido, S.; Sánchez, J. P.; Yuste, M.; Carreras, C.

    2011-03-01

    FisL@bs is a network of remote and virtual laboratories for physics university education via the Internet that offers students the possibility of performing hands-on experiments in different fields of physics in two ways: simulation and real remote operation. This paper gives a detailed account of a novel way in physics in which distance learning students can gain practical experience autonomously. FisL@bs uses the same structure as AutomatL@bs, a network of virtual and remote laboratories for learning/teaching of control engineering, which has been in operation for four years. Students can experiment with the laboratories offered using an Internet connection and a Java-compatible web browser. This paper, specially intended for university educators but easily comprehensible even for undergraduate students, explains how the portal works and the hardware and software tools used to create it. In addition, it also describes two physics experiments already available: spring elasticity and the laws of reflection and refraction.

  4. Performance Optimization Control of ECH using Fuzzy Inference Application

    NASA Astrophysics Data System (ADS)

    Dubey, Abhay Kumar

    Electro-chemical honing (ECH) is a hybrid electrolytic precision micro-finishing technology that, by combining physico-chemical actions of electro-chemical machining and conventional honing processes, provides the controlled functional surfaces-generation and fast material removal capabilities in a single operation. Process multi-performance optimization has become vital for utilizing full potential of manufacturing processes to meet the challenging requirements being placed on the surface quality, size, tolerances and production rate of engineering components in this globally competitive scenario. This paper presents an strategy that integrates the Taguchi matrix experimental design, analysis of variances and fuzzy inference system (FIS) to formulate a robust practical multi-performance optimization methodology for complex manufacturing processes like ECH, which involve several control variables. Two methodologies one using a genetic algorithm tuning of FIS (GA-tuned FIS) and another using an adaptive network based fuzzy inference system (ANFIS) have been evaluated for a multi-performance optimization case study of ECH. The actual experimental results confirm their potential for a wide range of machining conditions employed in ECH.

  5. HyFIS: adaptive neuro-fuzzy inference systems and their application to nonlinear dynamical systems.

    PubMed

    Kim, J; Kasabov, N

    1999-11-01

    This paper proposes an adaptive neuro-fuzzy system, HyFIS (Hybrid neural Fuzzy Inference System), for building and optimising fuzzy models. The proposed model introduces the learning power of neural networks to fuzzy logic systems and provides linguistic meaning to the connectionist architectures. Heuristic fuzzy logic rules and input-output fuzzy membership functions can be optimally tuned from training examples by a hybrid learning scheme comprised of two phases: rule generation phase from data; and rule tuning phase using error backpropagation learning scheme for a neural fuzzy system. To illustrate the performance and applicability of the proposed neuro-fuzzy hybrid model, extensive simulation studies of nonlinear complex dynamic systems are carried out. The proposed method can be applied to an on-line incremental adaptive learning for the prediction and control of nonlinear dynamical systems. Two benchmark case studies are used to demonstrate that the proposed HyFIS system is a superior neuro-fuzzy modelling technique.

  6. Rapid Range Expansion Is Not Restricted by Inbreeding in a Sexually Cannibalistic Spider

    PubMed Central

    Zimmer, Stefanie M.; Krehenwinkel, Henrik; Schneider, Jutta M.

    2014-01-01

    Few studies investigated whether rapid range expansion is associated with an individual's short-term fitness costs due to an increased risk of inbred mating at the front of expansion. In mating systems with low male mating rates both sexes share potential inbreeding costs and general mechanisms to avoid or reduce these costs are expected. The spider Argiope bruennichi expanded its range recently and we asked whether rapid settlement of new sites exposes individuals to a risk of inbreeding. We sampled four geographically separated subpopulations, genotyped individuals, arranged matings and monitored hatching success. Hatching success was lowest in egg-sacs derived from sibling pairs and highest in egg-sacs derived from among-population crosses, while within-population crosses were intermediate. This indicates that inbreeding might affect hatching success in the wild. Unlike expected, differential hatching success of within- and among-population crosses did not correlate with genetic distance of mating pairs. In contrast, we found high genetic diversity based on 16 microsatellite markers and a fragment of the mitochondrial COI gene in all populations. Our results suggest that even a very recent settlement secures the presence of genetically different mating partners. This leads to costs of inbreeding since the population is not inbred. PMID:24759976

  7. Early-acting inbreeding depression and reproductive success in the highbush blueberry, Vaccinium corymbosum L.

    PubMed

    Krebs, S L; Hancock, J F

    1990-06-01

    Tetraploid Vaccinium corymbosum genotypes exhibit wide variability in seed set following self- and cross-pollinations. In this paper, a post-zygotic mechanism (seed abortion) under polygenic control is proposed as the basis for fertility differences in this species. A pollen chase experiment indicated that self-pollen tubes fertilize ovules, but are also 'outcompeted' by foreign male gametes in pollen mixtures. Matings among cultivars derived from a pedigree showed a linear decrease in seed number per fruit, and increase in seed abortion, with increasing relatedness among parents. Selfed (S1) progeny from self-fertile parents were largely self-sterile. At zygotic levels of inbreeding of F>0.3 there was little or no fertility, suggesting that an inbreeding threshold regulates reproductive success in V. corymbosum matings. Individuals below the threshold are facultative selfers, while those above it are obligate outcrossers. Inbreeding also caused a decrease in pollen viability, and reduced female fertility more rapidly than male fertility. These phenomena are discussed in terms of two models of genetic load: (1) mutational load - homozygosity for recessive embryolethal or sub-lethal mutations and (2) segregational load - loss of allelic interactions essential for embryonic vigor. Self-infertility in highbush blueberries is placed in the context of 'late-acting' self-incompatibility versus 'early-acting' inbreeding depression in angiosperms.

  8. A novel approach to detect respiratory phases from pulmonary acoustic signals using normalised power spectral density and fuzzy inference system.

    PubMed

    Palaniappan, Rajkumar; Sundaraj, Kenneth; Sundaraj, Sebastian; Huliraj, N; Revadi, S S

    2016-07-01

    Monitoring respiration is important in several medical applications. One such application is respiratory rate monitoring in patients with sleep apnoea. The respiratory rate in patients with sleep apnoea disorder is irregular compared with the controls. Respiratory phase detection is required for a proper monitoring of respiration in patients with sleep apnoea. To develop a model to detect the respiratory phases present in the pulmonary acoustic signals and to evaluate the performance of the model in detecting the respiratory phases. Normalised averaged power spectral density for each frame and change in normalised averaged power spectral density between the adjacent frames were fuzzified and fuzzy rules were formulated. The fuzzy inference system (FIS) was developed with both Mamdani and Sugeno methods. To evaluate the performance of both Mamdani and Sugeno methods, correlation coefficient and root mean square error (RMSE) were calculated. In the correlation coefficient analysis in evaluating the fuzzy model using Mamdani and Sugeno method, the strength of the correlation was found to be r = 0.9892 and r = 0.9964, respectively. The RMSE for Mamdani and Sugeno methods are RMSE = 0.0853 and RMSE = 0.0817, respectively. The correlation coefficient and the RMSE of the proposed fuzzy models in detecting the respiratory phases reveals that Sugeno method performs better compared with the Mamdani method. © 2014 John Wiley & Sons Ltd.

  9. [Inbreeding process and establishment of new inbred lines derived from the Japanese house mouse, Mus musculus molossinus].

    PubMed

    Nomaguchi, T A; Sakurai, Y

    1993-04-01

    Inbreeding of 8 groups in molossinus mouse began in (Miura female x Urawa male) F1 (MU) from the stock captured in the Kanto district of Japan and were accomplished by each primiparous littermates. The animals were kept under a clean conventional condition at 23.5 +/- 2.5 degrees C and 50 +/- 5% in relative humidity. Pellet feed, CRF-1, and tap water were provided ad libitum. The respective number of inbreeding generations of MUA, MUF and MUG now exceeds F21, F20 and F22, respectively. Inbreeding of MUD and MUE have reached to F18 up to now, but the other 3 groups became extinct at F10. Time required for inbreeding from F0 to F20 was 2,280 days for MUA, 2,454 days for MUF and 2,143 days for MUG. Generation time was 114.0 +/- 47.2 days for MUA, 122.7 +/- 54.6 days for MUF and 107.2 +/- 48.5 days for MUG. Though the generation time varied from a minimum of 60 days to a maximum of 258 days from F0 to F10 in the inbreeding process (mean: 150.2 +/- 41.7 days), which were shortened from F10 and the mean was 79.0 +/- 29.1 days. In the breeding of the molossinus mouse, primiparous age was 124.5 +/- 29.7 days from F0 to F9 and 77.8 +/- 9.3 days from F10 to F19. The litter size was 5.1 +/- 1.3 for MUA and 5.0 +/- 1.3 for MUG in offspring, 5.0 +/- 1.2 and 4.9 +/- 1.2 in weanling, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)

  10. Local pre-adaptation to disturbance and inbreeding-environment interactions affect colonisation abilities of diploid and tetraploid Centaurea stoebe.

    PubMed

    Rosche, C; Hensen, I; Lachmuth, S

    2018-01-01

    Primary colonisation in invasive ranges most commonly occurs in disturbed habitats, where anthropogenic disturbance may cause physical damage to plants. The tolerance to such damage may differ between cytotypes and among populations as a result of differing population histories (adaptive differentiation between ruderal verus natural habitats). Moreover, founder populations often experience inbreeding depression, the effects of which may increase through physical damage due to inbreeding-environment interactions. We aimed to understand how such colonisation processes differ between diploid and tetraploid Centaurea stoebe populations, with a view to understanding why only tetraploids are invasive. We conducted a clipping experiment (frequency: zero, once or twice in the growing season) on inbred versus outbred offspring originating from 37 C. stoebe populations of varying cytotype, range and habitat type (natural versus ruderal). Aboveground biomass was harvested at the end of the vegetation period, while re-sprouting success was recorded in the following spring. Clipping reduced re-sprouting success and biomass, which was significantly more pronounced in natural than in ruderal populations. Inbreeding depression was not detected under benign conditions, but became increasingly apparent in biomass when plants were clipped. The effects of clipping and inbreeding did not differ between cytotypes. Adaptive differentiation in disturbance tolerance was higher among populations than between cytotypes, which highlights the potential of pre-adaptation in ruderal populations during early colonisation on anthropogenically disturbed sites. While the consequences of inbreeding increased through clipping-mediated stress, they were comparable between cytotypes, and consequently do not contribute to understanding the cytotype shift in the invasive range. © 2017 German Society for Plant Sciences and The Royal Botanical Society of the Netherlands.

  11. Reproductive success through high pollinator visitation rates despite self incompatibility in an endangered wallflower.

    PubMed

    Melen, Miranda K; Herman, Julie A; Lucas, Jessica; O'Malley, Rachel E; Parker, Ingrid M; Thom, Aaron M; Whittall, Justen B

    2016-11-01

    Self incompatibility (SI) in rare plants presents a unique challenge-SI protects plants from inbreeding depression, but requires a sufficient number of mates and xenogamous pollination. Does SI persist in an endangered polyploid? Is pollinator visitation sufficient to ensure reproductive success? Is there evidence of inbreeding/outbreeding depression? We characterized the mating system, primary pollinators, pollen limitation, and inbreeding/outbreeding depression in Erysimum teretifolium to guide conservation efforts. We compared seed production following self pollination and within- and between-population crosses. Pollen tubes were visualized after self pollinations and between-population pollinations. Pollen limitation was tested in the field. Pollinator observations were quantified using digital video. Inbreeding/outbreeding depression was assessed in progeny from self and outcross pollinations at early and later developmental stages. Self-pollination reduced seed set by 6.5× and quadrupled reproductive failure compared with outcross pollination. Pollen tubes of some self pollinations were arrested at the stigmatic surface. Seed-set data indicated strong SI, and fruit-set data suggested partial SI. Pollinator diversity and visitation rates were high, and there was no evidence of pollen limitation. Inbreeding depression (δ) was weak for early developmental stages and strong for later developmental stages, with no evidence of outbreeding depression. The rare hexaploid E. teretifolium is largely self incompatible and suffers from late-acting inbreeding depression. Reproductive success in natural populations was accomplished through high pollinator visitation rates consistent with a lack of pollen limitation. Future reproductive health for this species will require large population sizes with sufficient mates and a robust pollinator community. © 2016 Melen et al. Published by the Botanical Society of America. This work is licensed under a Creative Commons Attribution License (CC-BY).

  12. Sperm quality but not relatedness predicts sperm competition success in threespine sticklebacks (Gasterosteus aculeatus).

    PubMed

    Mehlis, Marion; Rahn, Anna K; Bakker, Theo C M

    2015-04-26

    Mating between close relatives often leads to a reduction of an individual's fitness, due to an increased expression of deleterious alleles. Thus, in many animal taxa pre- as well as postcopulatory inbreeding avoidance mechanisms have evolved. An increased risk of inbreeding and hence a loss of genetic variation may occur during founder events as in most cases only few individuals establish a new population. The threespine stickleback (Gasterosteus aculeatus) is a small externally fertilizing fish species subject to strong sperm competition. Sticklebacks inhabit both marine and freshwater environments and anadromous populations have repeatedly established new genetically less diverse freshwater populations. Previous studies showed that anadromous sticklebacks strongly suffer from inbreeding depression and when given the choice females prefer to mate with unrelated males. The present study aimed to address whether there exists a postcopulatory inbreeding avoidance mechanism solely based on sperm-egg interactions in sperm competition experiments. We used F1 individuals that originated either from a large, genetically heterogeneous anadromous population or from a small, genetically less diverse freshwater population. For each population, eggs of two different females were in vitro fertilized by the same two males' sperm in a paired study design. In the main experiment one male was the female's full-sib brother and in the control experiment all individuals were unrelated. The results revealed that fertilization success was independent of relatedness in both populations suggesting a general lack of a postcopulatory inbreeding avoidance mechanism. Instead, male quality (i.e. sperm morphology) predicted paternity success during competitive fertilization trials. In sticklebacks, there is no evidence for postcopulatory inbreeding avoidance. Sperm morphology predicted paternity instead, thus sperm quality traits are under strong sexual selection, presumably driven by the high risk of sperm competition under natural conditions.

  13. Inbreeding in Southeastern Spain : The Impact of Geography and Demography on Marital Mobility and Marital Distance Patterns (1900-1969).

    PubMed

    Calderón, R; Hernández, C L; García-Varela, G; Masciarelli, D; Cuesta, P

    2018-03-01

    In this paper, the structure of a southeastern Spanish population was studied for the first time with respect to its inbreeding patterns and its relationship with demographic and geographic factors. Data on consanguineous marriages (up to second cousins) from 1900 to 1969 were taken from ecclesiastic dispensations. Our results confirm that the patterns and trends of inbreeding in the study area are consistent with those previously observed in most non-Cantabrian Spanish populations. The rate of consanguineous marriages was apparently stable between 1900 and 1935 and then sharply decreased since 1940, which coincides with industrialization in Spain. A marked departure from Hardy-Weinberg expectations (0.25) in the ratio of first cousin (M22) to second cousin (M33) marriages in the study population (0.88) was observed. The high levels of endogamy (>80%) and its significant steadiness throughout the twentieth century is noteworthy. Accordingly, our results show that exogamous marriages were not only poorly represented but also that this reduced mobility (<6 km) suggests that the choice of a mate was preferentially local. We found higher mobility in M22 with respect to M33 cousin mating. The relationships between population size and consanguinity rates and inbreeding fit power-law distributions. A significant positive correlation was observed between inbreeding and elevation. Many Spanish populations have experienced a prolonged and considerable isolation across generations, which has led to high proportions of historical and local endogamy that is associated, in general, with high [Formula: see text] values. Thus, assessing genomic inbreeding using runs of homozygosity (ROH) in current Spanish populations could be an additional pertinent strategy for obtaining a more refined perspective regarding the population history inferred from the extent and frequency of ROH regions.

  14. Consanguinity and its relationship to differential fertility and mortality in the Kotia: a tribal population of Andhra Pradesh, India.

    PubMed

    Yasim; Naidu, J M; Mascie-Taylor, C G

    1997-04-01

    Data on patterns of marriage, differential fertility and mortality were collected from 211 Kotia women residing in Visakhapatnam district of Andhra Pradesh, India. Consanguineous marriages made up just over a quarter of the total, and of these, father's sister's daughter (FSD) were more common than mother's brother's daughter (MBD). The mean inbreeding coefficient for the sample (F) was 0.0172. Women in consanguineous marriages had a lower mean number of total conceptions, live births and living offspring (net fertility) than women in non-consanguineous marriages. Significant heterogeneity was found in the means of living offspring for FSD, MBD and non-consanguineous couples, but not for conceptions and live births.

  15. Inbreeding Depression and IQ.

    ERIC Educational Resources Information Center

    Kamin, Leon J.

    1980-01-01

    This article reviews sex studies of children of cousin marriages and three studies of children of incestuous matings. It is argued that these studies, taken as a whole, provide no substantial evidence for an inbreeding depression effect within the polygenic system commonly asserted to determine IQ. (Author/DB)

  16. The relationship between runs of homozygosity and inbreeding in Jersey cattle under selection

    USDA-ARS?s Scientific Manuscript database

    Inbreeding is often an inevitable outcome of strong directional artificial selection but it reduces fitness in a population with increased frequency of recessive deleterious alleles. Runs of homozygosity (ROH) representing genomic autozygosity that occur from mating between selected and genomically ...

  17. Producing offspring in Armadillidium vulgare: Effects of genetic diversity and inbreeding.

    PubMed

    Durand, Sylvine; Loiseau, Vincent; Prigot, Cybèle; Braquart-Varnier, Christine; Beltran-Bech, Sophie

    2018-03-01

    Genetic diversity is known to be correlated to fitness traits, and inbred individuals often display lower values for life history traits. In this study, we attempt to quantify how inbreeding affects such traits in the terrestrial isopod Armadillidium vulgare by performing inbred and non-inbred crosses under laboratory conditions. We estimated genetic characteristics of parents and offspring, and related them to fecundity and fertility measures, as well as offspring growth and survival. Our study shows that a decrease in offspring number might result from mortality around birth, but not to changes in fecundity, fertilization rate, or developmental failure between inbred and non-inbred crosses. More heterozygous females tended to be bigger and had a higher fecundity, which could have implications in mate choice. No effect of inbreeding was detected on offspring growth and survival. These results can be related to previously observed effects of genetic characteristics on mating strategies in A. vulgare, and could shed light on mechanisms of inbreeding avoidance in this species. © 2018 Wiley Periodicals, Inc.

  18. Natal dispersal patterns are not associated with inbreeding avoidance in the Seychelles warbler.

    PubMed

    Eikenaar, C; Komdeur, J; Richardson, D S

    2008-07-01

    In this study, we test whether patterns of territory inheritance, social mate choice and female-biased natal dispersal act as inbreeding avoidance mechanisms in the cooperatively breeding Seychelles warbler. Our results show that Seychelles warblers do not reduce the likelihood of inbreeding by avoiding related individuals as mates. The occurrence of natural and experimentally induced territory inheritance did not depend on whether the remaining breeder was a parent of the potential inheritor or an unrelated breeder. Furthermore, dispersing individuals were no less related to their eventual mates than expected given the pool of candidates they could mate with. The female bias in natal dispersal distance observed in the Seychelles warbler does not facilitate inbreeding avoidance because, contrary to our prediction, there was no sex difference in the clustering of related opposite sex breeders around the natal territories of dispersers. As a result, the chance of females mating with relatives was not reduced by their greater dispersal distance compared with that of males.

  19. Age-dependent, negative heterozygosity-fitness correlations and local effects in an endangered Caribbean reptile, Iguana delicatissima.

    PubMed

    Judson, Jessica L Martin; Knapp, Charles R; Welch, Mark E

    2018-02-01

    Inbreeding depression can have alarming impacts on threatened species with small population sizes. Assessing inbreeding has therefore become an important focus of conservation research. In this study, heterozygosity-fitness correlations (HFCs) were measured by genotyping 7 loci in 83 adult and 184 hatchling Lesser Antillean Iguanas, Iguana delicatissima, at a communal nesting site in Dominica to assess the role of inbreeding depression on hatchling fitness and recruitment to the adult population in this endangered species. We found insignificant correlations between multilocus heterozygosity and multiple fitness proxies in hatchlings and adults. Further, multilocus heterozygosity did not differ significantly between hatchlings and adults, which suggests that the survivorship of homozygous hatchlings does not differ markedly from that of their heterozygous counterparts. However, genotypes at two individual loci were correlated with hatching date, a finding consistent with the linkage between specific marker loci and segregating deleterious recessive alleles. These results provide only modest evidence that inbreeding depression influences the population dynamics of I. delicatissima on Dominica.

  20. Lack of nucleotide variability in a beetle pest with extreme inbreeding.

    PubMed

    Andreev, D; Breilid, H; Kirkendall, L; Brun, L O; ffrench-Constant, R H

    1998-05-01

    The coffee berry borer beetle Hypothenemus hampei (Ferrari) (Curculionidae: Scolytinae) is the major insect pest of coffee and has spread to most of the coffee-growing countries of the world. This beetle also displays an unusual life cycle, with regular sibling mating. This regular inbreeding and the population bottlenecks occurring on colonization of new regions should lead to low levels of genetic diversity. We were therefore interested in determining the level of nucleotide variation in nuclear and mitochondrial genomes of this beetle worldwide. Here we show that two nuclear loci (Resistance to dieldrin and ITS2) are completely invariant, whereas some variability is maintained at a mitochondrial locus (COI), probably corresponding to a higher mutation rate in the mitochondrial genome. Phylogenetic analysis of the mitochondrial data shows only two clades of beetle haplotypes outside of Kenya, the proposed origin of the species. These data confirm that inbreeding greatly reduces nucleotide variation and suggest the recent global spread of only two inbreeding lines of this bark beetle.

  1. Environmental stress, inbreeding, and the nature of phenotypic and genetic variance in Drosophila melanogaster.

    PubMed Central

    Fowler, Kevin; Whitlock, Michael C

    2002-01-01

    Fifty-two lines of Drosophila melanogaster founded by single-pair population bottlenecks were used to study the effects of inbreeding and environmental stress on phenotypic variance, genetic variance and survivorship. Cold temperature and high density cause reduced survivorship, but these stresses do not cause repeatable changes in the phenotypic variance of most wing morphological traits. Wing area, however, does show increased phenotypic variance under both types of environmental stress. This increase is no greater in inbred than in outbred lines, showing that inbreeding does not increase the developmental effects of stress. Conversely, environmental stress does not increase the extent of inbreeding depression. Genetic variance is not correlated with environmental stress, although the amount of genetic variation varies significantly among environments and lines vary significantly in their response to environmental change. Drastic changes in the environment can cause changes in phenotypic and genetic variance, but not in a way reliably predicted by the notion of 'stress'. PMID:11934358

  2. Inbreeding affects sexual signalling in males but not females of Tenebrio molitor.

    PubMed

    Pölkki, Mari; Krams, Indrikis; Kangassalo, Katariina; Rantala, Markus J

    2012-06-23

    In many species of animals, individuals advertise their quality with sexual signals to obtain mates. Chemical signals such as volatile pheromones are species specific, and their primary purpose is to influence mate choice by carrying information about the phenotypic and genetic quality of the sender. The deleterious effects of consanguineous mating on individual quality are generally known, whereas the effect of inbreeding on sexual signalling is poorly understood. Here, we tested whether inbreeding reduces the attractiveness of sexual signalling in the mealworm beetle, Tenebrio molitor, by testing the preferences for odours of inbred and outbred (control) individuals of the opposite sex. Females were more attracted to the odours produced by outbred males than the odours produced by inbred males, suggesting that inbreeding reduces the attractiveness of male sexual signalling. However, we did not find any difference between the attractiveness of inbred and outbred female odours, which may indicate that the quality of females is either irrelevant for T. molitor males or quality is not revealed through female odours.

  3. Inbreeding affects sexual signalling in males but not females of Tenebrio molitor

    PubMed Central

    Pölkki, Mari; Krams, Indrikis; Kangassalo, Katariina; Rantala, Markus J.

    2012-01-01

    In many species of animals, individuals advertise their quality with sexual signals to obtain mates. Chemical signals such as volatile pheromones are species specific, and their primary purpose is to influence mate choice by carrying information about the phenotypic and genetic quality of the sender. The deleterious effects of consanguineous mating on individual quality are generally known, whereas the effect of inbreeding on sexual signalling is poorly understood. Here, we tested whether inbreeding reduces the attractiveness of sexual signalling in the mealworm beetle, Tenebrio molitor, by testing the preferences for odours of inbred and outbred (control) individuals of the opposite sex. Females were more attracted to the odours produced by outbred males than the odours produced by inbred males, suggesting that inbreeding reduces the attractiveness of male sexual signalling. However, we did not find any difference between the attractiveness of inbred and outbred female odours, which may indicate that the quality of females is either irrelevant for T. molitor males or quality is not revealed through female odours. PMID:22237501

  4. Uncertain pollination environment promotes the evolution of a stable mixed reproductive system in the self-incompatible Hypochaeris salzmanniana (Asteraceae).

    PubMed

    Arista, M; Berjano, R; Viruel, J; Ortiz, M Á; Talavera, M; Ortiz, P L

    2017-09-01

    The transition from outcrossing to selfing is a repeated pattern in angiosperm diversification and according to general theory this transition should occur quickly and mixed reproductive systems should be infrequent. However, a large proportion of flowering plants have mixed reproductive systems, even showing inbreeding depression. Recently, several theoretical studies have shown that mixed mating systems can be stable, but empirical studies supporting these assumptions are still scarce. Hypochaeris salzmanniana, an annual species with populations differing in their self-incompatibility expression, was used as a study case to assess the stability of its mixed reproductive system. Here a descriptive study of the pollination environment was combined with measurements of the stability of the self-incompatibility system, outcrossing rate, reproductive assurance and inbreeding depression in four populations for two consecutive years. The reproductive system of populations exhibited a geographical pattern: the proportion of plants decreased from west to east. Pollinator environment also varied geographically, being less favourable from west to east. The self-incompatibility expression of some populations changed markedly in only one year. After selfing, progeny was mainly self-compatible, while after outcrossing both self-incompatible and self-compatible plants were produced. In general, both reproductive assurance and high inbreeding depression were found in all populations and years. The lowest values of inbreeding depression were found in 2014 in the easternmost populations, which experienced a marked increase in self-compatibility in 2015. The mixed reproductive system of H. salzmanniana seems to be an evolutionarily stable strategy, with selfing conferring reproductive assurance when pollinator attendance is low, but strongly limited by inbreeding depression. The fact that the highest frequencies of self-compatible plants appeared in the environments most unfavourable to pollination suggests that these plants are selected in these sites, although high rates of inbreeding depression should impede the complete loss of self-incompatibility. In H. salzmanniana, year-to-year changes in the frequency of self-incompatible individuals are directly derived from the balance between reproductive assurance and inbreeding depression. © The Author 2017. Published by Oxford University Press on behalf of the Annals of Botany Company. All rights reserved. For permissions, please email: journals.permissions@oup.com

  5. Development of High-Activity Para- to Ortho-Hydrogen Conversion Catalysts. Volume 2

    DTIC Science & Technology

    1989-09-28

    Proc. Roy. Soc. London AllO, 464 (1925). 2 1929 Para- and ortho-hydrogen, Barmois, E., La Nature No. 2820, 400-1 (1929) C.A. 24,, 1020b. K. F...U.S. At. Energy Comm. LA -2719, 40 pp. (1962); cf. 3. Chem. Eng. Data 7, 179(1962). C.A. 58, 10750g. Schmidt number for normal hydrogen and...A-L);- p 181-9; in Eng. Briones, A. G.; Garcia de la Banda, J. F.; Inst. Quim. Fis. Quim., Madrid, Anales Real. Soc. Espan. Fis. Quim. (Madrid); Ser

  6. Reduced mate availability leads to evolution of self-fertilization and purging of inbreeding depression in a hermaphrodite.

    PubMed

    Noël, Elsa; Chemtob, Yohann; Janicke, Tim; Sarda, Violette; Pélissié, Benjamin; Jarne, Philippe; David, Patrice

    2016-03-01

    Basic models of mating-system evolution predict that hermaphroditic organisms should mostly either cross-fertilize, or self-fertilize, due to self-reinforcing coevolution of inbreeding depression and outcrossing rates. However transitions between mating systems occur. A plausible scenario for such transitions assumes that a decrease in pollinator or mate availability temporarily constrains outcrossing populations to self-fertilize as a reproductive assurance strategy. This should trigger a purge of inbreeding depression, which in turn encourages individuals to self-fertilize more often and finally to reduce male allocation. We tested the predictions of this scenario using the freshwater snail Physa acuta, a self-compatible hermaphrodite that preferentially outcrosses and exhibits high inbreeding depression in natural populations. From an outbred population, we built two types of experimental evolution lines, controls (outcrossing every generation) and constrained lines (in which mates were often unavailable, forcing individuals to self-fertilize). After ca. 20 generations, individuals from constrained lines initiated self-fertilization earlier in life and had purged most of their inbreeding depression compared to controls. However, their male allocation remained unchanged. Our study suggests that the mating system can rapidly evolve as a response to reduced mating opportunities, supporting the reproductive assurance scenario of transitions from outcrossing to selfing. © 2016 The Author(s). Evolution © 2016 The Society for the Study of Evolution.

  7. Single-locus complementary sex determination in the inbreeding wasp Euodynerus foraminatus Saussure (Hymenoptera: Vespidae).

    PubMed

    Stahlhut, J K; Cowan, D P

    2004-03-01

    The Hymenoptera have arrhenotokous haplodiploidy in which males normally develop from unfertilized eggs and are haploid, while females develop from fertilized eggs and are diploid. Multiple sex determination systems are known to underlie haplodiploidy, and the best understood is single-locus complementary sex determination (sl-CSD) in which sex is determined at a single polymorphic locus. Individuals heterozygous at the sex locus develop as females; individuals that are hemizygous (haploid) or homozygous (diploid) at the sex locus develop as males. sl-CSD can be detected with inbreeding experiments that produce diploid males in predictable proportions as well as sex ratio shifts due to diploid male production. This sex determination system is considered incompatible with inbreeding because the ensuing increase in homozygosity increases the production of diploid males that are inviable or infertile, imposing a high cost on matings between close relatives. However, in the solitary hunting wasp Euodynerus foraminatus, a species suspected of having sl-CSD, inbreeding may be common due to a high incidence of sibling matings at natal nests. In laboratory crosses with E. foraminatus, we find that sex ratios and diploid male production (detected as microsatellite heterozygosity) are consistent with sl-CSD, but not with other sex determination systems. This is the first documented example of sl-CSD in a hymenopteran with an apparent natural history of inbreeding, and thus presents a paradox for our understanding of hymenopteran genetics.

  8. The Genetic Basis of Inbreeding Avoidance in House Mice

    PubMed Central

    Sherborne, Amy L.; Thom, Michael D.; Paterson, Steve; Jury, Francine; Ollier, William E.R.; Stockley, Paula; Beynon, Robert J.; Hurst, Jane L.

    2007-01-01

    Summary Animals might be able to use highly polymorphic genetic markers to recognize very close relatives and avoid inbreeding [1, 2]. The major histocompatibility complex (MHC) is thought to provide such a marker [1, 3–6] because it influences individual scent in a broad range of vertebrates [6–10]. However, direct evidence is very limited [1, 6, 10, 11]. In house mice (Mus musculus domesticus), the major urinary protein (MUP) gene cluster provides another highly polymorphic scent signal of genetic identity [8, 12–15] that could underlie kin recognition. We demonstrate that wild mice breeding freely in seminatural enclosures show no avoidance of mates with the same MHC genotype when genome-wide similarity is controlled. Instead, inbreeding avoidance is fully explained by a strong deficit in successful matings between mice sharing both MUP haplotypes. Single haplotype sharing is not a good guide to the identification of full sibs, and there was no evidence of behavioral imprinting on maternal MHC or MUP haplotypes. This study, the first to examine wild animals with normal variation in MHC, MUP, and genetic background, demonstrates that mice use self-referent matching of a species-specific [16, 17] polymorphic signal to avoid inbreeding. Recognition of close kin as unsuitable mates might be more variable across species than a generic vertebrate-wide ability to avoid inbreeding based on MHC. PMID:17997307

  9. On the chiral covariant approach to ρρ scattering

    NASA Astrophysics Data System (ADS)

    Geng, Li-Sheng; Molina, Raquel; Oset, Eulogio

    2017-12-01

    We examine in detail a recent work (D. Gülmez, U. G. Meißner and J. A. Oller, Eur. Phys. J. C, 77: 460 (2017)), where improvements to make ρρ scattering relativistically covariant are made. The paper has the remarkable conclusion that the J=2 state disappears with a potential which is much more attractive than for J=0, where a bound state is found. We trace this abnormal conclusion to the fact that an “on-shell” factorization of the potential is done in a region where this potential is singular and develops a large discontinuous and unphysical imaginary part. A method is developed, evaluating the loops with full ρ propagators, and we show that they do not develop singularities and do not have an imaginary part below threshold. With this result for the loops we define an effective potential, which when used with the Bethe-Salpeter equation provides a state with J=2 around the energy of the f 2(1270). In addition, the coupling of the state to ρρ is evaluated and we find that this coupling and the T matrix around the energy of the bound state are remarkably similar to those obtained with a drastic approximation used previously, in which the q 2 terms of the propagators of the exchanged ρ mesons are dropped, once the cut-off in the ρρ loop function is tuned to reproduce the bound state at the same energy. Supported by National Natural Science Foundation of China (11375024, 11522539), the Spanish Ministerio de Economia y Competitividad and European FEDER funds (FIS2011-28853-C02-01, FIS2011- 28853-C02-02, FIS2014-57026-REDT, FIS2014-51948-C2- 1-P, FIS2014-51948-C2-2-P), the Generalitat Valenciana in the program Prometeo II-2014/068, We acknowledge the support of the European Community-Research Infrastructure Integrating Activity Study of Strongly Interacting Matter (acronym HadronPhysics3, Grant Agreement n. 283286) under the Seventh Framework Programme of the EU

  10. Simulated and observed 2010 floodwater elevations in the Pawcatuck and Wood Rivers, Rhode Island

    USGS Publications Warehouse

    Zarriello, Phillip J.; Straub, David E.; Smith, Thor E.

    2014-01-01

    Heavy, persistent rains from late February through March 2010 caused severe flooding that set, or nearly set, peaks of record for streamflows and water levels at many long-term U.S. Geological Survey streamgages in Rhode Island. In response to this flood, hydraulic models of Pawcatuck River (26.9 miles) and Wood River (11.6 miles) were updated from the most recent approved U.S. Department of Homeland Security-Federal Emergency Management Agency flood insurance study (FIS) to simulate water-surface elevations (WSEs) for specified flows and boundary conditions. The hydraulic models were updated to Hydrologic Engineering Center-River Analysis System (HEC-RAS) using steady-state simulations and incorporate new field-survey data at structures, high resolution land-surface elevation data, and updated flood flows from a related study. The models were used to simulate the 0.2-percent annual exceedance probability (AEP) flood, which is the AEP determined for the 2010 flood in the Pawcatuck and Wood Rivers. The simulated WSEs were compared to high-water mark (HWM) elevation data obtained in a related study following the March–April 2010 flood, which included 39 HWMs along the Pawcatuck River and 11 HWMs along the Wood River. The 2010 peak flow generally was larger than the 0.2-percent AEP flow, which, in part, resulted in the FIS and updated model WSEs to be lower than the 2010 HWMs. The 2010 HWMs for the Pawcatuck River averaged about 1.6 feet (ft) higher than the 0.2-percent AEP WSEs simulated in the updated model and 2.5 ft higher than the WSEs in the FIS. The 2010 HWMs for the Wood River averaged about 1.3 ft higher than the WSEs simulated in the updated model and 2.5 ft higher than the WSEs in the FIS. The improved agreement of the updated simulated water elevations to observed 2010 HWMs provides a measure of the hydraulic model performance, which indicates the updated models better represent flooding at other AEPs than the existing FIS models.

  11. Determining geophysical properties from well log data using artificial neural networks and fuzzy inference systems

    NASA Astrophysics Data System (ADS)

    Chang, Hsien-Cheng

    Two novel synergistic systems consisting of artificial neural networks and fuzzy inference systems are developed to determine geophysical properties by using well log data. These systems are employed to improve the determination accuracy in carbonate rocks, which are generally more complex than siliciclastic rocks. One system, consisting of a single adaptive resonance theory (ART) neural network and three fuzzy inference systems (FISs), is used to determine the permeability category. The other system, which is composed of three ART neural networks and a single FIS, is employed to determine the lithofacies. The geophysical properties studied in this research, permeability category and lithofacies, are treated as categorical data. The permeability values are transformed into a "permeability category" to account for the effects of scale differences between core analyses and well logs, and heterogeneity in the carbonate rocks. The ART neural networks dynamically cluster the input data sets into different groups. The FIS is used to incorporate geologic experts' knowledge, which is usually in linguistic forms, into systems. These synergistic systems thus provide viable alternative solutions to overcome the effects of heterogeneity, the uncertainties of carbonate rock depositional environments, and the scarcity of well log data. The results obtained in this research show promising improvements over backpropagation neural networks. For the permeability category, the prediction accuracies are 68.4% and 62.8% for the multiple-single ART neural network-FIS and a single backpropagation neural network, respectively. For lithofacies, the prediction accuracies are 87.6%, 79%, and 62.8% for the single-multiple ART neural network-FIS, a single ART neural network, and a single backpropagation neural network, respectively. The sensitivity analysis results show that the multiple-single ART neural networks-FIS and a single ART neural network possess the same matching trends in determining lithofacies. This research shows that the adaptive resonance theory neural networks enable decision-makers to clearly distinguish the importance of different pieces of data which are useful in three-dimensional subsurface modeling. Geologic experts' knowledge can be easily applied and maintained by using the fuzzy inference systems.

  12. Inbreeding depression in selfs of redwood

    Treesearch

    W. J. Libby; B. G. McCutchan; C. I. Millar

    1981-01-01

    Given the polyploid chromosome constitution of Sequoia sempervirens, there was reason to question whether it would exhibit inbreeding depression. Preliminary results from studies of self and related outcross families are reported as a guide to the selection of trees for redwood seed orchards and breeding-orchards. The data indicate that, compared to...

  13. Assessing change in the family impact of caries in young children after treatment under general anaesthesia.

    PubMed

    Thomson, William Murray; Malden, Penelope Elizabeth

    2011-09-01

    To examine the properties, validity and responsiveness of the Family Impact Scale in a consecutive clinical sample of patients undergoing dental treatment under general anaesthesia. A consecutive clinical sample of parents/caregivers of children receiving dental treatment under general anaesthesia provided data using the Family Impact Scale (FIS) component of the COHQOL(©) Questionnaire. The first questionnaire was completed before treatment, the follow-up questionnaire 1-4 weeks afterward. Treatment-associated changes in the FIS and its components were determined by comparing baseline and follow-up data. Baseline and follow-up data were obtained for 202 and 130 participants, respectively (64.4% follow-up). All FIS items showed large relative decreases in prevalence, the greatest seen in those relating to having sleep disrupted, blaming others, being upset, the child requiring more attention, financial difficulties and having to take time off work. Factor analysis largely confirmed the underlying factor structure, with three sub-scales (parental/family, parental emotions and family conflict) identified. The parental/family and parental emotions sub-scales showed the greatest treatment-associated improvement, with large effect sizes. There was a moderate improvement in scores on the family conflict sub-scale. The overall FIS showed a large improvement. Treating children with severe caries under general anaesthesia results in OHRQoL improvements for the family. Severe dental caries is not merely a restorative and preventive challenge for those who treat children; it has far-reaching effects on those who share the household and care for the affected child.

  14. Genetic variation and evolution of Polaskia chichipe (Cactaceae) under domestication in the Tehuacán Valley, central Mexico.

    PubMed

    Otero-Arnaiz, Adriana; Casas, Alejandro; Hamrick, James L; Cruse-Sanders, Jennifer

    2005-05-01

    Polaskia chichipe is a columnar cactus under artificial selection in central Mexico because of its edible fruits. Our study explored the effect of human manipulation on levels and distribution of genetic variation in wild, silviculturally managed and cultivated sympatric populations. Total genetic variation, estimated in nine populations with five microsatellite loci, was H(T) = 0.658 +/- 0.026 SE, which was mainly distributed within populations (H(S) = 0.646) with low differentiation among them (F(ST) = 0.015). Fixation index (F(IS)) in all populations was positive, indicating a deficit of heterozygous individuals with respect to Hardy-Weinberg expectations. When populations were pooled by management type, the highest expected heterozygosity (H(E) = 0.631 +/- 0.031 SE) and the lowest fixation index (F(IS) = 0.07) were observed in wild populations, followed by cultivated populations (H(E) = 0.56 +/- 0.03 SE, F(IS) = 0.14), whereas the lowest variation was found in silviculturally managed populations (H(E) = 0.51 +/- 0.05 SE, F(IS) = 0.17). Low differentiation among populations under different management types (F(ST) 0.005, P < 0.04) was observed. A pattern of migration among neighbouring populations, suggested from isolation by distance (r2 = 0.314, P < 0.01), may have contributed to homogenizing populations and counteracting the effects of artificial selection. P. chichipe, used and managed for at least 700 generations, shows morphological differentiation, changes in breeding system and seed germination patterns associated with human management, with only slight genetic differences detected by neutral markers.

  15. Facilitated dissociation of transcription factors from single DNA binding sites

    PubMed Central

    Kamar, Ramsey I.; Banigan, Edward J.; Erbas, Aykut; Giuntoli, Rebecca D.; Olvera de la Cruz, Monica; Johnson, Reid C.; Marko, John F.

    2017-01-01

    The binding of transcription factors (TFs) to DNA controls most aspects of cellular function, making the understanding of their binding kinetics imperative. The standard description of bimolecular interactions posits that TF off rates are independent of TF concentration in solution. However, recent observations have revealed that proteins in solution can accelerate the dissociation of DNA-bound proteins. To study the molecular basis of facilitated dissociation (FD), we have used single-molecule imaging to measure dissociation kinetics of Fis, a key Escherichia coli TF and major bacterial nucleoid protein, from single dsDNA binding sites. We observe a strong FD effect characterized by an exchange rate ∼1×104 M−1s−1, establishing that FD of Fis occurs at the single-binding site level, and we find that the off rate saturates at large Fis concentrations in solution. Although spontaneous (i.e., competitor-free) dissociation shows a strong salt dependence, we find that FD depends only weakly on salt. These results are quantitatively explained by a model in which partially dissociated bound proteins are susceptible to invasion by competitor proteins in solution. We also report FD of NHP6A, a yeast TF with structure that differs significantly from Fis. We further perform molecular dynamics simulations, which indicate that FD can occur for molecules that interact far more weakly than those that we have studied. Taken together, our results indicate that FD is a general mechanism assisting in the local removal of TFs from their binding sites and does not necessarily require cooperativity, clustering, or binding site overlap. PMID:28364020

  16. Use of a Flexible Intubating Scope in Combination with a Channeled Video Laryngoscope for Managing a Difficult Airway in the Emergency Department.

    PubMed

    Sowers, Nicholas; Kovacs, George

    2016-02-01

    Difficulty with intubation is not uncommon in the emergency setting. Video laryngoscopes (VLs) are commonly used to manage the difficult airway in the emergency department (ED). Intubation using a flexible bronchoscope, while considered the gold standard for managing the anticipated difficult airway in the operating room, is not commonly used in the ED. We present a case describing VL-assisted flexible scope intubation performed in the ED as a novel feasible approach to managing the difficult airway. A 65-year-old male, post cardiac arrest, with multiple unsuccessful attempts at prehospital intubation had rapid sequence intubation (RSI) performed and, despite obtaining a view with a King Vision™ VL, the skilled operator was unable to advance the endotracheal tube (ETT). An Ambu™ aScope3 flexible intubating scope (FIS) was placed through the ETT loaded in the channel of the King Vision and advanced through the cords to a position proximal to the carina. The ETT was then advanced easily over the FIS and down the trachea. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Although video laryngoscopy is commonly used in the ED, intubation can prove difficult, despite having an adequate view of the glottis. Use of an FIS, however, through a channeled VL makes navigation of the ETT easier and facilitates tube advancement, which can be difficult with VL. Channeled VL-assisted use of an FIS is a viable option for managing the difficult airway. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. The relationship between cough-specific quality of life and abdominal muscle endurance, fatigue, and depression in patients with COPD.

    PubMed

    Arikan, Hulya; Savci, Sema; Calik-Kutukcu, Ebru; Vardar-Yagli, Naciye; Saglam, Melda; Inal-Ince, Deniz; Coplu, Lutfi

    2015-01-01

    Cough is a prevalent symptom that impacts quality of life in COPD. The aim of this study was to assess the relationship between cough-specific quality of life, abdominal muscle endurance, fatigue, and depression in stable patients with COPD. Twenty-eight patients with COPD (mean age 60.6±8.7 years) referred for pulmonary rehabilitation participated in this cross-sectional study. Sit-ups test was used for assessing abdominal muscle endurance. Leicester Cough Questionnaire (LCQ) was used to evaluate symptom-specific quality of life. Fatigue perception was evaluated with Fatigue Impact Scale (FIS). Beck Depression Inventory (BDI) was used for assessing depression level. The LCQ total score was significantly associated with number of sit-ups; BDI score; FIS total; physical, cognitive, and psychosocial scores (P<0.05). Scores of the LCQ physical, social, and psychological domains were also significantly related with number of sit-ups, FIS total score, and BDI score (P<0.05). FIS total score and number of sit-ups explained 58% of the variance in LCQ total score (r=0.76, r (2)=0.577, F(2-20)=12.296, P<0.001). Chronic cough may adversely affect performance in daily life due to its negative effect on fatigue and decrease abdominal muscle endurance in patients with COPD. Decreased cough-related quality of life is related with increased level of depression in COPD patients. Effects of increased abdominal muscle endurance and decreased fatigue in COPD patients with chronic cough need further investigation.

  18. Maternal heterozygosity and progeny fitness association in an inbred Scots pine population.

    PubMed

    Abrahamsson, S; Ahlinder, J; Waldmann, P; García-Gil, M R

    2013-03-01

    Associations between heterozygosity and fitness traits have typically been investigated in populations characterized by low levels of inbreeding. We investigated the associations between standardized multilocus heterozygosity (stMLH) in mother trees (obtained from12 nuclear microsatellite markers) and five fitness traits measured in progenies from an inbred Scots pine population. The traits studied were proportion of sound seed, mean seed weight, germination rate, mean family height of one-year old seedlings under greenhouse conditions (GH) and mean family height of three-year old seedlings under field conditions (FH). The relatively high average inbreeding coefficient (F) in the population under study corresponds to a mixture of trees with different levels of co-ancestry, potentially resulting from a recent bottleneck. We used both frequentist and Bayesian methods of polynomial regression to investigate the presence of linear and non-linear relations between stMLH and each of the fitness traits. No significant associations were found for any of the traits except for GH, which displayed negative linear effect with stMLH. Negative HFC for GH could potentially be explained by the effect of heterosis caused by mating of two inbred mother trees (Lippman and Zamir 2006), or outbreeding depression at the most heterozygote trees and its negative impact on the fitness of the progeny, while their simultaneous action is also possible (Lynch. 1991). However,since this effect wasn't detected for FH, we cannot either rule out that the greenhouse conditions introduce artificial effects that disappear under more realistic field conditions.

  19. Genetic diversity and population structure among six cattle breeds in South Africa using a whole genome SNP panel

    PubMed Central

    Makina, Sithembile O.; Muchadeyi, Farai C.; van Marle-Köster, Este; MacNeil, Michael D.; Maiwashe, Azwihangwisi

    2014-01-01

    Information about genetic diversity and population structure among cattle breeds is essential for genetic improvement, understanding of environmental adaptation as well as utilization and conservation of cattle breeds. This study investigated genetic diversity and the population structure among six cattle breeds in South African (SA) including Afrikaner (n = 44), Nguni (n = 54), Drakensberger (n = 47), Bonsmara (n = 44), Angus (n = 31), and Holstein (n = 29). Genetic diversity within cattle breeds was analyzed using three measures of genetic diversity namely allelic richness (AR), expected heterozygosity (He) and inbreeding coefficient (f). Genetic distances between breed pairs were evaluated using Nei's genetic distance. Population structure was assessed using model-based clustering (ADMIXTURE). Results of this study revealed that the allelic richness ranged from 1.88 (Afrikaner) to 1.73 (Nguni). Afrikaner cattle had the lowest level of genetic diversity (He = 0.24) and the Drakensberger cattle (He = 0.30) had the highest level of genetic variation among indigenous and locally-developed cattle breeds. The level of inbreeding was lower across the studied cattle breeds. As expected the average genetic distance was the greatest between indigenous cattle breeds and Bos taurus cattle breeds but the lowest among indigenous and locally-developed breeds. Model-based clustering revealed some level of admixture among indigenous and locally-developed breeds and supported the clustering of the breeds according to their history of origin. The results of this study provided useful insight regarding genetic structure of SA cattle breeds. PMID:25295053

  20. Contemporary and historic factors influence differently genetic differentiation and diversity in a tropical palm

    PubMed Central

    da Silva Carvalho, C; Ribeiro, M C; Côrtes, M C; Galetti, M; Collevatti, R G

    2015-01-01

    Population genetics theory predicts loss in genetic variability because of drift and inbreeding in isolated plant populations; however, it has been argued that long-distance pollination and seed dispersal may be able to maintain gene flow, even in highly fragmented landscapes. We tested how historical effective population size, historical migration and contemporary landscape structure, such as forest cover, patch isolation and matrix resistance, affect genetic variability and differentiation of seedlings in a tropical palm (Euterpe edulis) in a human-modified rainforest. We sampled 16 sites within five landscapes in the Brazilian Atlantic forest and assessed genetic variability and differentiation using eight microsatellite loci. Using a model selection approach, none of the covariates explained the variation observed in inbreeding coefficients among populations. The variation in genetic diversity among sites was best explained by historical effective population size. Allelic richness was best explained by historical effective population size and matrix resistance, whereas genetic differentiation was explained by matrix resistance. Coalescence analysis revealed high historical migration between sites within landscapes and constant historical population sizes, showing that the genetic differentiation is most likely due to recent changes caused by habitat loss and fragmentation. Overall, recent landscape changes have a greater influence on among-population genetic variation than historical gene flow process. As immediate restoration actions in landscapes with low forest amount, the development of more permeable matrices to allow the movement of pollinators and seed dispersers may be an effective strategy to maintain microevolutionary processes. PMID:25873150

  1. Genetic diversity and population structure among six cattle breeds in South Africa using a whole genome SNP panel.

    PubMed

    Makina, Sithembile O; Muchadeyi, Farai C; van Marle-Köster, Este; MacNeil, Michael D; Maiwashe, Azwihangwisi

    2014-01-01

    Information about genetic diversity and population structure among cattle breeds is essential for genetic improvement, understanding of environmental adaptation as well as utilization and conservation of cattle breeds. This study investigated genetic diversity and the population structure among six cattle breeds in South African (SA) including Afrikaner (n = 44), Nguni (n = 54), Drakensberger (n = 47), Bonsmara (n = 44), Angus (n = 31), and Holstein (n = 29). Genetic diversity within cattle breeds was analyzed using three measures of genetic diversity namely allelic richness (AR), expected heterozygosity (He) and inbreeding coefficient (f). Genetic distances between breed pairs were evaluated using Nei's genetic distance. Population structure was assessed using model-based clustering (ADMIXTURE). Results of this study revealed that the allelic richness ranged from 1.88 (Afrikaner) to 1.73 (Nguni). Afrikaner cattle had the lowest level of genetic diversity (He = 0.24) and the Drakensberger cattle (He = 0.30) had the highest level of genetic variation among indigenous and locally-developed cattle breeds. The level of inbreeding was lower across the studied cattle breeds. As expected the average genetic distance was the greatest between indigenous cattle breeds and Bos taurus cattle breeds but the lowest among indigenous and locally-developed breeds. Model-based clustering revealed some level of admixture among indigenous and locally-developed breeds and supported the clustering of the breeds according to their history of origin. The results of this study provided useful insight regarding genetic structure of SA cattle breeds.

  2. Relationship of runs of homozygosity with adaptive and production traits in a paternal broiler line.

    PubMed

    Marchesi, J A P; Buzanskas, M E; Cantão, M E; Ibelli, A M G; Peixoto, J O; Joaquim, L B; Moreira, G C M; Godoy, T F; Sbardella, A P; Figueiredo, E A P; Coutinho, L L; Munari, D P; Ledur, M C

    2018-06-01

    Genomic regions under high selective pressure present specific runs of homozygosity (ROH), which provide valuable information on the genetic mechanisms underlying the adaptation to environment imposed challenges. In broiler chickens, the adaptation to conventional production systems in tropical environments lead the animals with favorable genotypes to be naturally selected, increasing the frequency of these alleles in the next generations. In this study, ~1400 chickens from a paternal broiler line were genotyped with the 600 K Affymetrix® Axiom® high-density (HD) genotyping array for estimation of linkage disequilibrium (LD), effective population size (N e ), inbreeding and ROH. The average LD between adjacent single nucleotide polymorphisms (SNPs) in all autosomes was 0.37, and the LD decay was higher in microchromosomes followed by intermediate and macrochromosomes. The N e of the ancestral population was high and declined over time maintaining a sufficient number of animals to keep the inbreeding coefficient of this population at low levels. The ROH analysis revealed genomic regions that harbor genes associated with homeostasis maintenance and immune system mechanisms, which may have been selected in response to heat stress. Our results give a comprehensive insight into the relationship between shared ROH regions and putative regions related to survival and production traits in a paternal broiler line selected for over 20 years. These findings contribute to the understanding of the effects of environmental and artificial selection in shaping the distribution of functional variants in the chicken genome.

  3. Consanguinity in two Uruguayan cities: historical evolution and characteristics (1800--1994).

    PubMed

    Lusiardo, A; Barreto, I; Hidalgo, P C; Bonilla, C; Bertoni, B; Portas, M; Sans, M

    2004-01-01

    Information about consanguinity in Uruguay is scarce and limited to the end of the 20th century. To determine the frequency and characteristics of consanguineous marriages, as well as chronological trends, in two Uruguayan cities over almost two centuries. We analysed 28,393 Roman Catholic Church marriage records and Diocesan consanguinity dispensations belonging to the cities of Melo (Northeast), and Montevideo (South), for the period 1800--1994. 633 (2.23%) marriages were consanguineous. Among them, first cousin marriages were the most common (58.8% of all consanguineous marriages, including double consanguineous), especially those where the bride and groom were related through their maternal side. During the first decades of the 19th century both regions showed low levels of consanguinity. Consanguinity reached its maximum during the mid-1800s and decreased significantly throughout the 20th century. The overall mean coefficients of inbreeding were moderate in both cases, being greater in the Northeast (alpha=0.00165) than in the South (alpha = 0.00089). The low level of consanguinity as well as the structure of consanguineous marriages (distribution by degrees) is similar to that found in other southern South American countries. Temporal trends are similar to those found in industrialized regions in Europe, with maximum inbreeding levels during the middle-late 19th century; however, the clear predominance of first cousin unions, differs from most of the data for European countries. Small differences between the two cities can be related to diverse facts, such as socio-economic conditions, ethnic origin, immigration, and sampling.

  4. A Boolean Consistent Fuzzy Inference System for Diagnosing Diseases and Its Application for Determining Peritonitis Likelihood

    PubMed Central

    Dragović, Ivana; Turajlić, Nina; Pilčević, Dejan; Petrović, Bratislav; Radojević, Dragan

    2015-01-01

    Fuzzy inference systems (FIS) enable automated assessment and reasoning in a logically consistent manner akin to the way in which humans reason. However, since no conventional fuzzy set theory is in the Boolean frame, it is proposed that Boolean consistent fuzzy logic should be used in the evaluation of rules. The main distinction of this approach is that it requires the execution of a set of structural transformations before the actual values can be introduced, which can, in certain cases, lead to different results. While a Boolean consistent FIS could be used for establishing the diagnostic criteria for any given disease, in this paper it is applied for determining the likelihood of peritonitis, as the leading complication of peritoneal dialysis (PD). Given that patients could be located far away from healthcare institutions (as peritoneal dialysis is a form of home dialysis) the proposed Boolean consistent FIS would enable patients to easily estimate the likelihood of them having peritonitis (where a high likelihood would suggest that prompt treatment is indicated), when medical experts are not close at hand. PMID:27069500

  5. Digestive capacities, inbreeding and growth capacities in juvenile Arctic charr Salvelinus alpinus.

    PubMed

    Ditlecadet, D; Blier, P U; Le François, N R; Dufresne, F

    2009-12-01

    Genetic variation in growth performance was estimated in 26 families from two commercial strains of Arctic charr Salvelinus alpinus. Physiological determinants of growth and metabolic capacities were also assessed through enzymatic assays. A relatedness coefficient was attributed to each family using parental genotypes at seven microsatellite loci. After 15 months of growth, faster growing families had significantly lower relatedness coefficients than slower growing families, suggesting their value as indicators of growth potential. Individual fish that exhibited higher trypsin activity also displayed higher growth rate, suggesting that superior protein digestion capacities can be highly advantageous at early stages. Capacities to use amino acids as expressed by glutamate dehydrogenase (GDH) activities were lower in the liver of fast-growing fish (13-20%), whereas white muscle of fast-growing fish showed higher activities than that of slow-growing fish for amino acid metabolism and aerobic capacity [22-32% increase for citrate synthase (CS), aspartate aminotransferase (AAT) and GDH]. The generally higher glycolytic capacities (PK and LDH) in white muscle of fast-growing fish indicated higher burst swimming capacities and hence better access to food.

  6. Estimates of genetic parameters, genetic trends, and inbreeding in a crossbred dairy sheep research flock in the United States.

    PubMed

    Murphy, T W; Berger, Y M; Holman, P W; Baldin, M; Burgett, R L; Thomas, D L

    2017-10-01

    For the past 2 decades, the Spooner Agriculture Research Station (ARS) of the University of Wisconsin-Madison operated the only dairy sheep research flock in North America. The objectives of the present study were to 1) obtain estimates of genetic parameters for lactation and reproductive traits in dairy ewes, 2) estimate the amount of genetic change in these traits over time, and 3) quantify the level of inbreeding in this flock over the last 20 yr. Multiple-trait repeatability models (MTRM) were used to analyze ewe traits through their first 6 parities. The first MTRM jointly analyzed milk (180-d-adjusted milk yield [180d MY]), fat (180-d-adjusted fat yield [180d FY]), and protein (180-d-adjusted protein yield [180d PY]) yields adjusted to 180 d of lactation; number of lambs born per ewe lambing (NLB); and lactation average test-day somatic cell score (LSCS). A second MTRM analyzed 180d MY, NLB, LSCS, and percentage milk fat (%F) and percentage milk protein (%P). The 3 yield traits were moderately heritable (0.26 to 0.32) and strongly genetically correlated (0.91 to 0.96). Percentage milk fat and %P were highly heritable (0.53 and 0.61, respectively) and moderately genetically correlated (0.61). Milk yield adjusted to 180 d was negatively genetically correlated with %F and %P (-0.31 and -0.34, respectively). Ewe prolificacy was not significantly ( > 0.67) genetically correlated with yield traits, %P, or LSCS but lowly negatively correlated with %F (-0.26). Lactation somatic cell score was unfavorably genetically correlated with yield traits (0.28 to 0.39) but not significantly ( > 0.09) correlated with %F, %P, and NLB. Within-trait multiple-trait models through the first 4 parities revealed that 180d MY, 180d FY, 180d PY, %F, and %P were strongly genetically correlated across parity (0.67 to 1.00). However, the genetic correlations across parity for NLB and LSCS were somewhat lower (0.51 to 0.96). Regressing predicted breeding values for 180d MY, without and with the addition of breed effects, on ewe year of birth revealed a positive genetic gain of 2.30 and 6.24 kg/yr, respectively, over the past 20 yr in this flock. Inbreeding coefficients of ewes with an extended pedigree ranged from 0.0 to 0.29, with an average of 0.07. To optimize genetic gains and avoid excessive inbreeding, the development of a national genetic improvement program should be a top priority for the growing dairy sheep industry.

  7. Genomic tools to improve progress and preserve variation for future generations

    USDA-ARS?s Scientific Manuscript database

    Use of genomic tools has greatly decreased generation intervals and increased genetic progress in dairy cattle, but faster selection cycles can also increase rates of inbreeding per unit of time. Average pedigree inbreeding of Holstein cows increased from 4.6% in 2000 to 5.6% in 2009 to 6.6% in 201...

  8. Human genetic studies in areas of high natural radiation. VIII. Genetic load not related to radiation.

    PubMed Central

    Freire-Maia, A; Krieger, H

    1975-01-01

    The genetic load disclosed by inbreeding has been analyzed in a multiple regression model for a population involving several localities in the state of Espírito Santo, Brazil. The inbreeding load has been estimated for number of pregnancies, abortions, stillbirths, children born alive, anomalies in general, sex ratio, infant mortality, post-infant mortality, and sterility and infertility of the couple. There was no evidence of either maternal or paternal inbreeding effects on the variables analyzed. The effect of inbreeding of the zygote was significant only for anomalies in general (B = 2.29 +/- 0.45) and infant mortality (B = 3.19 +/- 1.39). The latter result must be accepted with caution because of the many environmental causes affecting infant mortality. The B/A ratio suggested a predominantly mutational load for anomalies in general (B/A = 25), but with respect to infant mortality (B/A = 6), the ratio is regarded as an underestimate because of the environmental contribution to A and therefore not supportive of the segregational interpretation. PMID:803018

  9. No evidence of inbreeding avoidance in a polygynous ungulate: the reindeer (Rangifer tarandus).

    PubMed

    Holand, Oystein; Askim, Kjartan R; Røed, Knut H; Weladji, Robert B; Gjøstein, Hallvard; Nieminen, Mauri

    2007-02-22

    In polygynous species, mate choice is an integrated part of sexual selection. However, whether mate choice occurs independently of the genetic relatedness among mating pairs has received little attention, although inbreeding may have fitness consequences. We studied whether genetic relatedness influenced females' choice of partner in a highly polygynous ungulate--the reindeer (Rangifer tarandus)--in an experimental herd during two consecutive rutting seasons; the herd consisting of 75 females in 1999 and 74 females in 2000 was exposed to three 4.5-year-old adults and three 1.5-year-old young males, respectively. The females' distribution during peak rut was not influenced by their genetic relatedness with the dominant males of the mating groups. Further, genetic relatedness did not influence the actual choice of mating partner. We conclude that inbreeding avoidance through mating group choice as well as choice of mating partner, two interconnected processes of female mate choice operating at two different scales in space and time, in such a highly female-biased reindeer populations with low level of inbreeding may not occur.

  10. Chimpanzees breed with genetically dissimilar mates

    PubMed Central

    Rudicell, Rebecca S.; Li, Yingying; Hahn, Beatrice H.; Wroblewski, Emily; Pusey, Anne E.

    2017-01-01

    Inbreeding adversely affects fitness, whereas heterozygosity often augments it. Therefore, mechanisms to avoid inbreeding and increase genetic distance between mates should be advantageous in species where adult relatives reside together. Here we investigate mate choice for genetic dissimilarity in chimpanzees, a species in which many females avoid inbreeding through dispersal, but where promiscuous mating and sexual coercion can limit choice when related adults reside together. We take advantage of incomplete female dispersal in Gombe National Park, Tanzania to compare mate choice for genetic dissimilarity among immigrant and natal females in two communities using pairwise relatedness measures in 135 genotyped chimpanzees. As expected, natal females were more related to adult males in their community than were immigrant females. However, among 62 breeding events, natal females were not more related to the sires of their offspring than immigrant females, despite four instances of close inbreeding. Moreover, females were generally less related to the sires of their offspring than to non-sires. These results demonstrate that chimpanzees may be capable of detecting relatedness and selecting mates on the basis of genetic distance. PMID:28280546

  11. Chimpanzees breed with genetically dissimilar mates.

    PubMed

    Walker, Kara K; Rudicell, Rebecca S; Li, Yingying; Hahn, Beatrice H; Wroblewski, Emily; Pusey, Anne E

    2017-01-01

    Inbreeding adversely affects fitness, whereas heterozygosity often augments it. Therefore, mechanisms to avoid inbreeding and increase genetic distance between mates should be advantageous in species where adult relatives reside together. Here we investigate mate choice for genetic dissimilarity in chimpanzees, a species in which many females avoid inbreeding through dispersal, but where promiscuous mating and sexual coercion can limit choice when related adults reside together. We take advantage of incomplete female dispersal in Gombe National Park, Tanzania to compare mate choice for genetic dissimilarity among immigrant and natal females in two communities using pairwise relatedness measures in 135 genotyped chimpanzees. As expected, natal females were more related to adult males in their community than were immigrant females. However, among 62 breeding events, natal females were not more related to the sires of their offspring than immigrant females, despite four instances of close inbreeding. Moreover, females were generally less related to the sires of their offspring than to non-sires. These results demonstrate that chimpanzees may be capable of detecting relatedness and selecting mates on the basis of genetic distance.

  12. Disease ecology in the Galápagos Hawk (Buteo galapagoensis): host genetic diversity, parasite load and natural antibodies

    PubMed Central

    Whiteman, Noah Kerness; Matson, Kevin D; Bollmer, Jennifer L; Parker, Patricia G

    2005-01-01

    An increased susceptibility to disease is one hypothesis explaining how inbreeding hastens extinction in island endemics and threatened species. Experimental studies show that disease resistance declines as inbreeding increases, but data from in situ wildlife systems are scarce. Genetic diversity increases with island size across the entire range of an extremely inbred Galápagos endemic bird, providing the context for a natural experiment examining the effects of inbreeding on disease susceptibility. Extremely inbred populations of Galápagos hawks had higher parasite abundances than relatively outbred populations. We found a significant island effect on constitutively produced natural antibody (NAb) levels and inbred populations generally harboured lower average and less variable NAb levels than relatively outbred populations. Furthermore, NAb levels explained abundance of amblyceran lice, which encounter the host immune system. This is the first study linking inbreeding, innate immunity and parasite load in an endemic, in situ wildlife population and provides a clear framework for assessment of disease risk in a Galápagos endemic. PMID:16618672

  13. Fitness drivers in the threatened Dianthus guliae Janka (Caryophyllaceae): disentangling effects of growth context, maternal influence and inbreeding depression.

    PubMed

    Gargano, D; Gullo, T; Bernardo, L

    2011-01-01

    We studied inbreeding depression, growth context and maternal influence as constraints to fitness in the self-compatible, protandrous Dianthus guliae Janka, a threatened Italian endemic. We performed hand-pollinations to verify outcomes of self- and cross-fertilisation over two generations, and grew inbred and outbred D. guliae offspring under different conditions - in pots, a common garden and field conditions (with/without nutrient addition). The environment influenced juvenile growth and flowering likelihood/rate, but had little effect on inbreeding depression. Significant interactions among genetic and environmental factors influenced female fertility. Overall, genetic factors strongly affected both early (seed mass, seed germination, early survival) and late (seed/ovule ratio) life-history traits. After the first pollination experiment, we detected higher mortality in the selfed progeny, which is possibly a consequence of inbreeding depression caused by over-expression of early-acting deleterious alleles. The second pollination induced a strong loss of reproductive fitness (seed production, seed mass) in inbred D. guliae offspring, regardless of the pollination treatment (selfing/crossing); hence, a strong (genetic) maternal influence constrained early life-history traits of the second generation. Based on current knowledge, we conclude that self-compatibility does not prevent the detrimental effects of inbreeding in D. guliae populations, and may increase the severe extinction risk if out-crossing rates decrease. © 2010 German Botanical Society and The Royal Botanical Society of the Netherlands.

  14. Adult nutrition, but not inbreeding, affects male primary sexual traits in the leaf-footed cactus bug Narnia femorata (Hemiptera: Coreidae).

    PubMed

    Joseph, Paul N; Sasson, Daniel A; Allen, Pablo E; Somjee, Ummat; Miller, Christine W

    2016-07-01

    Adverse conditions may be the norm rather than the exception in natural populations. Many populations experience poor nutrition on a seasonal basis. Further, brief interludes of inbreeding can be common as population density fluctuates and because of habitat fragmentation. Here, we investigated the effects of poor nutrition and inbreeding on traits that can be very important to reproductive success and fitness in males: testes mass, sperm concentration, and sperm viability. Our study species was Narnia femorata, a species introduced to north-central Florida in the 1950s. This species encounters regular, seasonal changes in diet that can have profound phenotypic effects on morphology and behavior. We generated inbred and outbred individuals through a single generation of full-sibling mating or outcrossing, respectively. All juveniles were provided a natural, high-quality diet of Opuntia humifusa cactus cladode with fruit until they reached adulthood. New adult males were put on a high- or low-quality diet for at least 21 days before measurements were taken. As expected, the low-quality diet led to significantly decreased testes mass in both inbred and outbred males, although there were surprisingly no detectable effects on sperm traits. We did not find evidence that inbreeding affected testes mass, sperm concentration, and sperm viability. Our results highlight the immediate and overwhelming effects of nutrition on testes mass, while suggesting that a single generation of inbreeding might not be detrimental for primary sexual traits in this particular population.

  15. Female choice and the relatedness of mates in the guppy (Poecilia reticulata): mate choice and inbreeding depression.

    PubMed

    Pitcher, Trevor E; Rodd, F Helen; Rowe, Locke

    2008-09-01

    Several studies suggest that females may offset the costs of genetic incompatibility by exercising pre-copulatory or post-copulatory mate choice to bias paternity toward more compatible males. One source of genetic incompatibility is the degree of relatedness among mates; unrelated males are expected to be genetically more compatible with a female than her relatives. To address this idea, we investigated the potential for inbreeding depression and paternity biasing mechanisms (pre- and post-copulatory) of inbreeding avoidance in the guppy, Poecilia reticulata. Inbreeding resulted in a reduction in offspring number and quality. Females mated to siblings gave birth to significantly fewer offspring compared to females mated to non-siblings and inbred male offspring took longer to reach sexual maturity. There was no evidence of inbreeding avoidance in pre-copulatory behaviors of females or males. Sexual responsiveness of females to courting males and the number of sexual behaviors males directed at females did not decrease as a function of the relatedness of the two individuals. We also tested whether female guppies can use post-copulatory mechanisms to bias sperm usage toward unrelated males by comparing the number of offspring produced by females mated to two of their siblings (SS), two males unrelated to the female (NN), or to one unrelated male and a sibling male (NS). We found that NS females produced a number of offspring not significantly different than what would be expected if fertilization success were halfway between completely outbreeding (NN) and completely inbreeding (SS) females. This suggests that there is no significant improvement in the number of offspring produced by females mating to both related and unrelated males, relative to that which would be expected if sperm from both males were used equally. Our results suggest that female guppies do not discriminate against closely related males or their sperm.

  16. Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.

    PubMed

    Giacopuzzi, Edoardo; Gennarelli, Massimo; Minelli, Alessandra; Gardella, Rita; Valsecchi, Paolo; Traversa, Michele; Bonvicini, Cristian; Vita, Antonio; Sacchetti, Emilio; Magri, Chiara

    2017-01-01

    Inbreeding is a known risk factor for recessive Mendelian diseases and previous studies have suggested that it could also play a role in complex disorders, such as psychiatric diseases. Recent inbreeding results in the presence of long runs of homozygosity (ROHs) along the genome, which are also defined as autozygosity regions. Genetic variants in these regions have two alleles that are identical by descent, thus increasing the odds of bearing rare recessive deleterious mutations due to a homozygous state. A recent study showed a suggestive enrichment of long ROHs in schizophrenic patients, suggesting that recent inbreeding could play a role in the disease. To better understand the impact of autozygosity on schizophrenia risk, we selected, from a cohort of 180 Italian patients, seven subjects with extremely high numbers of large ROHs that were likely due to recent inbreeding and characterized the mutational landscape within their ROHs using Whole Exome Sequencing and, gene set enrichment analysis. We identified a significant overlap (17%; empirical p-value = 0.0171) between genes inside ROHs affected by low frequency functional homozygous variants (107 genes) and the group of most promising candidate genes mutated in schizophrenia. Moreover, in four patients, we identified novel and extremely rare damaging mutations in the genes involved in neurodevelopment (MEGF8) and in GABA/glutamatergic synaptic transmission (GAD1, FMN1, ANO2). These results provide insights into the contribution of rare recessive mutations and inbreeding as risk factors for schizophrenia. ROHs that are likely due to recent inbreeding harbor a combination of predisposing low-frequency variants and extremely rare variants that have a high impact on pivotal biological pathways implicated in the disease. In addition, this study confirms that focusing on patients with high levels of homozygosity could be a useful prioritization strategy for discovering new high-impact mutations in genetically complex disorders.

  17. Chemical Signatures of and Precursors to Fractures Using Fluid Inclusion Stratigraphy

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Lorie M. Dilley

    Enhanced Geothermal Systems (EGS) are designed to recover heat from the subsurface by mechanically creating fractures in subsurface rocks. Open or recently closed fractures would be more susceptible to enhancing the permeability of the system. Identifying dense fracture areas as well as large open fractures from small fracture systems will assist in fracture stimulation site selection. Geothermal systems are constantly generating fractures (Moore, Morrow et al. 1987), and fluids and gases passing through rocks in these systems leave small fluid and gas samples trapped in healed microfractures. These fluid inclusions are faithful records of pore fluid chemistry. Fluid inclusions trappedmore » in minerals as the fractures heal are characteristic of the fluids that formed them, and this signature can be seen in fluid inclusion gas analysis. This report presents the results of the project to determine fracture locations by the chemical signatures from gas analysis of fluid inclusions. With this project we hope to test our assumptions that gas chemistry can distinguish if the fractures are open and bearing production fluids or represent prior active fractures and whether there are chemical signs of open fracture systems in the wall rock above the fracture. Fluid Inclusion Stratigraphy (FIS) is a method developed for the geothermal industry which applies the mass quantification of fluid inclusion gas data from drill cuttings and applying known gas ratios and compositions to determine depth profiles of fluid barriers in a modern geothermal system (Dilley, 2009; Dilley et al., 2005; Norman et al., 2005). Identifying key gas signatures associated with fractures for isolating geothermal fluid production is the latest advancement in the application of FIS to geothermal systems (Dilley and Norman, 2005; Dilley and Norman, 2007). Our hypothesis is that peaks in FIS data are related to location of fractures. Previous work (DOE Grant DE-FG36-06GO16057) has indicated differences in the chemical signature of fluid inclusions between open and closed fractures as well as differences in the chemical signature of open fractures between geothermal systems. Our hypothesis is that open fracture systems can be identified by their FIS chemical signature; that there are differences based on the mineral assemblages and geology of the system; and that there are chemical precursors in the wall rock above open, large fractures. Specific goals for this project are: (1) To build on the preliminary results which indicate that there are differences in the FIS signatures between open and closed fractures by identifying which chemical species indicate open fractures in both active geothermal systems and in hot, dry rock; (2) To evaluate the FIS signatures based on the geology of the fields; (3) To evaluate the FIS signatures based on the mineral assemblages in the fracture; and (4) To determine if there are specific chemical signatures in the wall rock above open, large fractures. This method promises to lower the cost of geothermal energy production in several ways. Knowledge of productive fractures in the boreholes will allow engineers to optimize well production. This information can aid in well testing decisions, well completion strategies, and in resource calculations. It will assist in determining the areas for future fracture enhancement. This will develop into one of the techniques in the 'tool bag' for creating and managing Enhanced Geothermal Systems.« less

  18. Evaluation of Anti-Metastatic Potential of the Combination of Fisetin with Paclitaxel on A549 Non-Small Cell Lung Cancer Cells.

    PubMed

    Klimaszewska-Wiśniewska, Anna; Hałas-Wiśniewska, Marta; Grzanka, Alina; Grzanka, Dariusz

    2018-02-27

    The identification and development of new agents with a therapeutic potential as well as novel drug combinations are gaining the attention of scientists and clinicians as a plausible approach to improve therapeutic regimens for chemoresistant tumors. We have recently reported that the flavonoid fisetin (FIS), at physiologically attainable concentrations, acts synergistically with clinically achievable doses of paclitaxel (PTX) to produce growth inhibitory and pro-death effects on A549 human non-small cell lung cancer (NSCLC) cells. To further investigate a potential therapeutic efficacy of the combination of fisetin with paclitaxel, we decided to assess its impact on metastatic capability of A549 cells as well as its toxicity toward normal human lung fibroblast. Cell viability, cell migration, and invasion were measured by thiazolyl blue tetrazolium bromide (MTT) assay, wound healing assay, and Transwell chamber assay, respectively. The expression of metastasis-related genes was assessed with quantitative reverse transcriptase real-time polymerase chain reaction (qRT-PCR). Actin and vimentin filaments were examined under the fluorescence microscope. The combination of FIS and PTX significantly reduced cancer cell migration and invasion, at least partially, through a marked rearrangement of actin and vimentin cytoskeleton and the modulation of metastasis-related genes. Most of these effects of the combination treatment were significantly greater than those of individual agents. Paclitaxel alone was even more toxic to normal cells than the combination of this drug with the flavonoid, suggesting that FIS may provide some protection against PTX-mediated cytotoxicity. The combination of FIS and PTX is expected to have a synergistic anticancer efficacy and a significant potential for the treatment of NSCLC, however, further in vitro and in vivo studies are required to confirm this preliminary evidence.

  19. The effect of fertility stress on endometrial and subendometrial blood flow among infertile women.

    PubMed

    Dong, Yuezhi; Cai, Yanna; Zhang, Yu; Xing, Yurong; Sun, Yingpu

    2017-03-04

    To investigate the effect of fertility stress on endometrial and subendometrial blood flow among infertile women. This case-control study was conducted in The First Affiliated Hospital of Zhengzhou University. The fertility problem inventory (FPI) was adopted to evaluate fertility stress. Three-dimensional power Doppler ultrasonography (3D PD-US) was performed during the proliferative phase of the menstrual cycle (days 5-11) to measure endometrial thickness, pattern, endometrial and subendometrial volume (V), the vascularization index (VI), the flow index (FI) and the vascularization-FI (VFI) index. Then, 300 infertile women were separated into two groups (high-score group and low-score group) based on total FPI scores and 80 healthy women were selected as controls. No differences were found among all three groups with regard to general characteristics, endometrial thickness, pattern, endometrial and subendometrial V, VI and VFI. The endometrial and subendometrial FIs associated with different stress levels significantly differed among the three groups (F = 33.95, P < 0.001; F = 44.79, P < 0.001, respectively). The endometrial and subendometrial FIs in the control group were significantly higher than those in the high-score group and low-score groups. The endometrial and subendometrial FIs in the low-score group were significantly higher than those in the high-score group. The total FPI score was closely related to the endometrial and subendometrial FIs (r = -0.304, P < 0.001; r = -0.407, P < 0.001, respectively). Fertility stress was associated with endometrial and subendometrial flow index. Whether fertility stress might affect pregnancy outcome by reducing endometrial and subendometrial blood flow requires further research.

  20. Regional hydroclimate response to freshwater fluxes from the Fennoscandian Ice Sheet during the Last Termination

    NASA Astrophysics Data System (ADS)

    Macdonald, F. A.; Schmitz, M. D.; Condon, D. J.; Zhu, M.; Rooney, A. D.; Brandon, A. D.

    2014-12-01

    Resolving the effects of freshwater forcing during the last glacial-interglacial transition, the Last Termination, is critical to our comprehension of rapid climate change. In particular, the role of Fennoscandian Ice Sheet (FIS) and freshwater from the eastern seaboard of the North Atlantic has been entirely disregarded in the context of the abrupt regional hydroclimate shifts that characterized this period. Here we infer freshwater input variations from the FIS to the Nordic Seas based on two accurately dated hydroclimate reconstructions from lake sediment records from Southern Sweden and one SST reconstruction from the Nordic Seas. The records indicate a number of abrupt freshwater discharges into the Nordic Seas at the start of the Bølling interstadial and during the Allerød interstadial. We observe that these intervals of enhanced FIS freshwater outflow correspond to different modalities of hydroclimate regime shifts in Greenland. Using a set of climate model simulations, we show that the dominant Greenland hydroclimate state can be influenced by the degree of FIS freshwater recirculation in the Nordic Seas, which redirects the excess of sea ice partitioned into the Barents Sea towards the eastern Greenland Current. The tradeoff between buildup and recirculation of sea ice in the Nordic Seas generate large-scale sea-level pressure anomalies that may explain the sign and magnitude of the isotopic and temperature changes inferred from Greenland and North European reconstructions. We conclude that air-sea interactions in the North Atlantic are more sensitive to Fennoscandian freshwater forcing than previously thought. These results could help to solve the problematic relationship between origin, timing and magnitude of freshwater perturbations and abrupt deglacial changes in North Atlantic Ocean circulation in numerical simulations.

  1. Quaternary evolution of the Fennoscandian Ice Sheet from 3D seismic data

    NASA Astrophysics Data System (ADS)

    Montelli, A.; Dowdeswell, J. A.; Ottesen, D.; Johansen, S. E.

    2016-12-01

    The Quaternary seismic stratigraphy and architecture of the mid-Norwegian continental shelf and slope are investigated using extensive grids of marine 2D and 3D seismic reflection data that cover more than 100,000 km2 of the continental margin. At least 26 distinct regional palaeo-surfaces have been interpreted within the stratigraphy of the Quaternary Naust Formation on the mid-Norwegian margin. Multiple assemblages of buried glacigenic landforms are preserved within the Naust Formation across most of the study area, facilitating detailed palaeo-glaciological reconstructions. We document a marine-terminating, calving Fennoscandian Ice Sheet (FIS) margin present periodically on the Norwegian shelf since at least the beginning of the Quaternary. Elongate, streamlined landforms interpreted as mega-scale glacial lineations (MSGLs) have been found within the upper part of the Naust sequence N ( 1.9-1.6 Ma), sugesting the development of fast-flowing ice streams since that time. Shifts in the location of depocentres and direction of features indicative of fast ice-flow suggest that several reorganisations in the FIS drainage have occurred since 1.5 Ma. Subglacial landforms reveal a complex and dynamic ice sheet, with converging palaeo-ice streams and several flow-switching events that may reflect major changes in topography and internal ice-sheet structure. Lack of subglacial meltwater channels suggests a largely distributed, low-volume meltwater system that drained the FIS through permeable subglacial till without leaving much erosional evidence. This regional palaeo-environmental examination of the FIS provides a useful framework for ice-sheet modelling and shows that fragmentary preservation of buried surfaces and variability of ice-sheet dynamics should be taken into account when reconstructing glacial history from spatially limited datasets.

  2. Comparing growth and form of coast redwood selfs and outcrosses

    Treesearch

    John-Pascal Berrill; William J. Libby

    2017-01-01

    We now report 22 years of new data and observations from the third of three small projects evaluating the effects of inbreeding in coast redwood (Sequoia sempervirens (D. Don) Endl.). We also briefly summarize previously-reported effects of inbreeding on redwood’s cone production, seed set, germination percentage, nursery growth and survival,...

  3. Multiple proximate and ultimate causes of natal dispersal in white-tailed deer

    USGS Publications Warehouse

    Long, E.S.; Diefenbach, D.R.; Rosenberry, C.S.; Wallingford, B.D.

    2008-01-01

    Proximate and ultimate causes of dispersal in vertebrates vary, and relative importance of these causes is poorly understood. Among populations, inter- and intrasexual social cues for dispersal are thought to reduce inbreeding and local mate competition, respectively, and specific emigration cue may affect dispersal distance, such that inbreeding avoidance dispersal tends to be farther than dispersal to reduce local competition. To investigate potential occurrence of multiple proximate and ultimate causes of dispersal within populations, we radio-marked 363 juvenile male white-tailed deer (Odocoileus virginianus) in 2 study areas in Pennsylvania. Natal dispersal probability and distance were monitored over a 3-year period when large-scale management changes reduced density of adult females and increased density of adult males. Most dispersal (95-97%) occurred during two 12-week periods: spring, when yearling males still closely associate with related females, and prior to fall breeding season, when yearling males closely associate with other breeding-age males. Following changes to sex and age structure that reduced potential for inbreeding and increased potential for mate competition, annual dispersal probability did not change; however, probability of spring dispersal decreased, whereas probability of fall dispersal increased. Spring dispersal distances were greater than fall dispersal distances, suggesting that adaptive inbreeding avoidance dispersal requires greater distance than mate competition dispersal where opposite-sex relatives are philopatric and populations are not patchily distributed. Both inbreeding avoidance and mate competition are important ultimate causes of dispersal of white-tailed deer, but ultimate motivations for dispersal are proximately cued by different social mechanisms and elicit different responses in dispersers.

  4. Whole genome population genetics analysis of Sudanese goats identifies regions harboring genes associated with major traits.

    PubMed

    Rahmatalla, Siham A; Arends, Danny; Reissmann, Monika; Said Ahmed, Ammar; Wimmers, Klaus; Reyer, Henry; Brockmann, Gudrun A

    2017-10-23

    Sudan is endowed with a variety of indigenous goat breeds which are used for meat and milk production and which are well adapted to the local environment. The aim of the present study was to determine the genetic diversity and relationship within and between the four main Sudanese breeds of Nubian, Desert, Taggar and Nilotic goats. Using the 50 K SNP chip, 24 animals of each breed were genotyped. More than 96% of high quality SNPs were polymorphic with an average minor allele frequency of 0.3. In all breeds, no significant difference between observed (0.4) and expected (0.4) heterozygosity was found and the inbreeding coefficients (F IS ) did not differ from zero. F st coefficients for the genetic distance between breeds also did not significantly deviate from zero. In addition, the analysis of molecular variance revealed that 93% of the total variance in the examined population can be explained by differences among individuals, while only 7% result from differences between the breeds. These findings provide evidence for high genetic diversity and little inbreeding within breeds on one hand, and low diversity between breeds on the other hand. Further examinations using Nei's genetic distance and STRUCTURE analysis clustered Taggar goats distinct from the other breeds. In a principal component (PC) analysis, PC1 could separate Taggar, Nilotic and a mix of Nubian and Desert goats into three groups. The SNPs that contributed strongly to PC1 showed high F st values in Taggar goat versus the other goat breeds. PCA allowed us to identify target genomic regions which contain genes known to influence growth, development, bone formation and the immune system. The information on the genetic variability and diversity in this study confirmed that Taggar goat is genetically different from the other goat breeds in Sudan. The SNPs identified by the first principal components show high F st values in Taggar goat and allowed to identify candidate genes which can be used in the development of breed selection programs to improve local breeds and find genetic factors contributing to the adaptation to harsh environments.

  5. Genome-wide population structure and evolutionary history of the Frizarta dairy sheep.

    PubMed

    Kominakis, A; Hager-Theodorides, A L; Saridaki, A; Antonakos, G; Tsiamis, G

    2017-10-01

    In the present study, we used genomic data, generated with a medium density single nucleotide polymorphisms (SNP) array, to acquire more information on the population structure and evolutionary history of the synthetic Frizarta dairy sheep. First, two typical measures of linkage disequilibrium (LD) were estimated at various physical distances that were then used to make inferences on the effective population size at key past time points. Population structure was also assessed by both multidimensional scaling analysis and k-means clustering on the distance matrix obtained from the animals' genomic relationships. The Wright's fixation F ST index was also employed to assess herds' genetic homogeneity and to indirectly estimate past migration rates. The Wright's fixation F IS index and genomic inbreeding coefficients based on the genomic relationship matrix as well as on runs of homozygosity were also estimated. The Frizarta breed displays relatively low LD levels with r 2 and |D'| equal to 0.18 and 0.50, respectively, at an average inter-marker distance of 31 kb. Linkage disequilibrium decayed rapidly by distance and persisted over just a few thousand base pairs. Rate of LD decay (β) varied widely among the 26 autosomes with larger values estimated for shorter chromosomes (e.g. β=0.057, for OAR6) and smaller values for longer ones (e.g. β=0.022, for OAR2). The inferred effective population size at the beginning of the breed's formation was as high as 549, was then reduced to 463 in 1981 (end of the breed's formation) and further declined to 187, one generation ago. Multidimensional scaling analysis and k-means clustering suggested a genetically homogenous population, F ST estimates indicated relatively low genetic differentiation between herds, whereas a heat map of the animals' genomic kinship relationships revealed a stratified population, at a herd level. Estimates of genomic inbreeding coefficients suggested that most recent parental relatedness may have been a major determinant of the current effective population size. A denser than the 50k SNP panel may be more beneficial when performing genome wide association studies in the breed.

  6. A signal-based fault detection and classification method for heavy haul wagons

    NASA Astrophysics Data System (ADS)

    Li, Chunsheng; Luo, Shihui; Cole, Colin; Spiryagin, Maksym; Sun, Yanquan

    2017-12-01

    This paper proposes a signal-based fault detection and isolation (FDI) system for heavy haul wagons considering the special requirements of low cost and robustness. The sensor network of the proposed system consists of just two accelerometers mounted on the front left and rear right of the carbody. Seven fault indicators (FIs) are proposed based on the cross-correlation analyses of the sensor-collected acceleration signals. Bolster spring fault conditions are focused on in this paper, including two different levels (small faults and moderate faults) and two locations (faults in the left and right bolster springs of the first bogie). A fully detailed dynamic model of a typical 40t axle load heavy haul wagon is developed to evaluate the deterioration of dynamic behaviour under proposed fault conditions and demonstrate the detectability of the proposed FDI method. Even though the fault conditions considered in this paper did not deteriorate the wagon dynamic behaviour dramatically, the proposed FIs show great sensitivity to the bolster spring faults. The most effective and efficient FIs are chosen for fault detection and classification. Analysis results indicate that it is possible to detect changes in bolster stiffness of ±25% and identify the fault location.

  7. Effectiveness of Intellectual Distraction on Gagging and Anxiety Management in Children: A Prospective Clinical Study

    PubMed Central

    Debs, Nahla Nassif; Aboujaoude, Samia

    2017-01-01

    Objectives: The aim of the present prospective study is to determine the effect of an intellectual colored game (ICG) on the severity of gag reflex (GR) and anxiety in children during dental alginate impression. Materials and Methods: Forty-one children, aging between 5 and 11 years, having a GR varying from normal to moderate had upper alginate impressions. The children's anxiety was evaluated with a facial image scale (FIS) before (T0) and after first failed impression (T1), then, after playing an intellectual colored game (ICG) at T2, while taking an upper alginate impression. Results: 42.9 % of the children had a gag reflex of stage 2 and 31.0 % a facial scale of 3. Initial GR was not significantly associated with the final success of the impression (P =0.260) whereas final impression success was strongly associated with FIS (P <0.001). There was a statistically significant reduction in median GR score from T0 to T2 (P < 0.001) and FIS dropped significantly at T2 with ICG (P < 0.001). Conclusion: This study highlights the clinical performance of the intellectual distraction approach in GR management PMID:29387614

  8. Revisit the faster-is-slower effect for an exit at a corner

    NASA Astrophysics Data System (ADS)

    Chen, Jun Min; Lin, Peng; Wu, Fan Yu; Li Gao, Dong; Wang, Guo Yuan

    2018-02-01

    The faster-is-slower effect (FIS), which means that crowd at a high enough velocity could significantly increase the evacuation time to escape through an exit, is an interesting phenomenon in pedestrian dynamics. Such phenomenon had been studied widely and has been experimentally verified in different systems of discrete particles flowing through a centre exit. To experimentally validate this phenomenon by using people under high pressure is difficult due to ethical issues. A mouse, similar to a human, is a kind of self-driven and soft body creature with competitive behaviour under stressed conditions. Therefore, mice are used to escape through an exit at a corner. A number of repeated tests are conducted and the average escape time per mouse at different levels of stimulus are analysed. The escape times do not increase obviously with the level of stimulus for the corner exit, which is contrary to the experiment with the center exit. The experimental results show that the FIS effect is not necessary a universal law for any discrete system. The observation could help the design of buildings by relocating their exits to the corner in rooms to avoid the formation of FIS effect.

  9. Analysis of founders and performance test effects on an autochthonous horse population through pedigree analysis: structure, genetic variability and inbreeding.

    PubMed

    Giontella, A; Pieramati, C; Silvestrelli, M; Sarti, F M

    2018-05-29

    The Maremmano is an autochthonous Italian horse breed, which probably descended from the native horses of the Etruscans (VI century B.C.); the Studbook was acknowledged in 1980, and it includes 12 368 horses born from that year up to 2015. The aim of this study was to evaluate the effect of the selection program on the genetic variability of the Maremmano population; the analysis was performed using both the 'Endog v 4.8' program available at http://webs.ucm.es/info/prodanim/html/JP_Web.htm and in-house software on official pedigree data. Four Reference Populations were considered, and the most important one was the population of the 12 368 Maremmano horses officially registered in the National Studbook. The pedigree completeness of this population was very good because it was more than 90% at the third parental generation and more than 70% at the fifth generation; the pedigree traced back to a maximum of 10.50 generations with an average of 3.30 complete generations and 5.70 equivalent complete generations. The average generation interval was 10.65±4.72 years, with stallions used for longer periods than mares. The intervals ranged from 10.15±4.45 (mother-daughter) to 10.99±4.93 (father-daughter). The effective number of founders (f e) was 74 and the effective number of ancestors (f a) was 30 so that the ratio f e/f a was 2.47. The founder genome equivalents (f g) was 13.72 with a ratio f g/f e equal to 0.18. The mean of the genetic conservation index was 5.55±3.37, and it ranged from 0.81 to 21.32. The average inbreeding coefficient was 2.94%, with an increase of 0.1%/year, and the average relatedness coefficient was 5.52%. The effective population size (N e) computed by an individual increase in inbreeding was 68.1±13.00; the N e on equivalent generations was 42.00, and this value slightly increased to 42.20 when computed by Log regression on equivalent generations. The analysis confirmed the presence of seven traditional male lines. The percentage of Thoroughbred blood in the foals born in 2015 was 20.30% and has increased 0.21%/year since 1980; in particular, it increased more than twice (0.51%/year) until 1993 and afterwards slightly fluctuated. The pedigree analysis confirmed the completeness of genealogical information and the traditional importance that breeders gave to the male lines; although the genetic diversity of Maremmano seemed to be not endangered by the selection program, some effects on the population structure were found and a more scientific approach to genetic conservation should be incorporated in the selection plans.

  10. Deepening Our Understanding of Academic Inbreeding Effects on Research Information Exchange and Scientific Output: New Insights for Academic Based Research

    ERIC Educational Resources Information Center

    Horta, Hugo

    2013-01-01

    This paper analyzes the impact of academic inbreeding in relation to academic research, and proposes a new conceptual framework for its analysis. We find that mobility (or lack of) at the early research career stage is decisive in influencing academic behaviors and scientific productivity. Less mobile academics have more inward oriented…

  11. Selfing results in inbreeding depression of growth but not of gas exchange of surviving adult black spruce trees

    Treesearch

    Kurt Johnsen; John E. Major; Chris A. Maier

    2003-01-01

    Summary In most tree species, inbreeding greatly reduces seed production, seed viability, survival and growth. In a previous large-scale quantitative analysis of a black spruce (Picea mariana (Mill.) B.S.P.) diallel experiment, selfing had large deleterious effects on growth but no impact on stable carbon isotope discrimination (an...

  12. Genetic diversity, inbreeding and cancer.

    PubMed

    Ujvari, Beata; Klaassen, Marcel; Raven, Nynke; Russell, Tracey; Vittecoq, Marion; Hamede, Rodrigo; Thomas, Frédéric; Madsen, Thomas

    2018-03-28

    Genetic diversity is essential for adaptive capacities, providing organisms with the potential of successfully responding to intrinsic and extrinsic challenges. Although a clear reciprocal link between genetic diversity and resistance to parasites and pathogens has been established across taxa, the impact of loss of genetic diversity by inbreeding on the emergence and progression of non-communicable diseases, such as cancer, has been overlooked. Here we provide an overview of such associations and show that low genetic diversity and inbreeding associate with an increased risk of cancer in both humans and animals. Cancer being a multifaceted disease, loss of genetic diversity can directly (via accumulation of oncogenic homozygous mutations) and indirectly (via increased susceptibility to oncogenic pathogens) impact abnormal cell emergence and escape of immune surveillance. The observed link between reduced genetic diversity and cancer in wildlife may further imperil the long-term survival of numerous endangered species, highlighting the need to consider the impact of cancer in conservation biology. Finally, the somewhat incongruent data originating from human studies suggest that the association between genetic diversity and cancer development is multifactorial and may be tumour specific. Further studies are therefore crucial in order to elucidate the underpinnings of the interactions between genetic diversity, inbreeding and cancer. © 2018 The Author(s).

  13. Genetic diversity, inbreeding and cancer

    PubMed Central

    Klaassen, Marcel; Raven, Nynke; Russell, Tracey; Vittecoq, Marion; Hamede, Rodrigo; Thomas, Frédéric

    2018-01-01

    Genetic diversity is essential for adaptive capacities, providing organisms with the potential of successfully responding to intrinsic and extrinsic challenges. Although a clear reciprocal link between genetic diversity and resistance to parasites and pathogens has been established across taxa, the impact of loss of genetic diversity by inbreeding on the emergence and progression of non-communicable diseases, such as cancer, has been overlooked. Here we provide an overview of such associations and show that low genetic diversity and inbreeding associate with an increased risk of cancer in both humans and animals. Cancer being a multifaceted disease, loss of genetic diversity can directly (via accumulation of oncogenic homozygous mutations) and indirectly (via increased susceptibility to oncogenic pathogens) impact abnormal cell emergence and escape of immune surveillance. The observed link between reduced genetic diversity and cancer in wildlife may further imperil the long-term survival of numerous endangered species, highlighting the need to consider the impact of cancer in conservation biology. Finally, the somewhat incongruent data originating from human studies suggest that the association between genetic diversity and cancer development is multifactorial and may be tumour specific. Further studies are therefore crucial in order to elucidate the underpinnings of the interactions between genetic diversity, inbreeding and cancer. PMID:29563261

  14. Mutual Mate Choice: When it Pays Both Sexes to Avoid Inbreeding

    PubMed Central

    Lihoreau, Mathieu; Zimmer, Cédric; Rivault, Colette

    2008-01-01

    Theoretical models of sexual selection predict that both males and females of many species should benefit by selecting their mating partners. However, empirical evidence testing and validating this prediction is scarce. In particular, whereas inbreeding avoidance is expected to induce sexual conflicts, in some cases both partners could benefit by acting in concert and exerting mutual mate choice for non-assortative pairings. We tested this prediction with the gregarious cockroach Blattella germanica (L.). We demonstrated that males and females base their mate choice on different criteria and that choice occurs at different steps during the mating sequence. Males assess their relatedness to females through antennal contacts before deciding to court preferentially non-siblings. Conversely, females biased their choice towards the most vigorously courting males that happened to be non-siblings. This study is the first to demonstrate mutual mate choice leading to close inbreeding avoidance. The fact that outbred pairs were more fertile than inbred pairs strongly supports the adaptive value of this mating system, which includes no “best phenotype” as the quality of two mating partners is primarily linked to their relatedness. We discuss the implications of our results in the light of inbreeding conflict models. PMID:18843373

  15. Subsocial Cockroaches Nauphoeta cinerea Mate Indiscriminately with Kin Despite High Costs of Inbreeding.

    PubMed

    Bouchebti, Sofia; Durier, Virginie; Pasquaretta, Cristian; Rivault, Colette; Lihoreau, Mathieu

    Many animals have evolved strategies to reduce risks of inbreeding and its deleterious effects on the progeny. In social arthropods, such as the eusocial ants and bees, inbreeding avoidance is typically achieved by the dispersal of breeders from their native colony. However studies in presocial insects suggest that kin discrimination during mate choice may be a more common mechanism in socially simpler species with no reproductive division of labour. Here we examined this possibility in the subsocial cockroach Nauphoeta cinerea, a model species for research in sexual selection, where males establish dominance hierarchies to access females and control breeding territories. When given a binary choice between a sibling male and a non-sibling male that had the opportunity to establish a hierarchy prior to the tests, females mated preferentially with the dominant male, irrespective of kinship or body size. Despite the lack of kin discrimination during mate choice, inbred-mated females incurred significant fitness costs, producing 20% less offspring than outbred-mated females. We discuss how the social mating system of this territorial cockroach may naturally limit the probability of siblings to encounter and reproduce, without the need for evolving active inbreeding avoidance mechanisms, such as kin recognition.

  16. Mutual mate choice: when it pays both sexes to avoid inbreeding.

    PubMed

    Lihoreau, Mathieu; Zimmer, Cédric; Rivault, Colette

    2008-01-01

    Theoretical models of sexual selection predict that both males and females of many species should benefit by selecting their mating partners. However, empirical evidence testing and validating this prediction is scarce. In particular, whereas inbreeding avoidance is expected to induce sexual conflicts, in some cases both partners could benefit by acting in concert and exerting mutual mate choice for non-assortative pairings. We tested this prediction with the gregarious cockroach Blattella germanica (L.). We demonstrated that males and females base their mate choice on different criteria and that choice occurs at different steps during the mating sequence. Males assess their relatedness to females through antennal contacts before deciding to court preferentially non-siblings. Conversely, females biased their choice towards the most vigorously courting males that happened to be non-siblings. This study is the first to demonstrate mutual mate choice leading to close inbreeding avoidance. The fact that outbred pairs were more fertile than inbred pairs strongly supports the adaptive value of this mating system, which includes no "best phenotype" as the quality of two mating partners is primarily linked to their relatedness. We discuss the implications of our results in the light of inbreeding conflict models.

  17. Subsocial Cockroaches Nauphoeta cinerea Mate Indiscriminately with Kin Despite High Costs of Inbreeding

    PubMed Central

    Bouchebti, Sofia; Durier, Virginie; Pasquaretta, Cristian; Rivault, Colette; Lihoreau, Mathieu

    2016-01-01

    Many animals have evolved strategies to reduce risks of inbreeding and its deleterious effects on the progeny. In social arthropods, such as the eusocial ants and bees, inbreeding avoidance is typically achieved by the dispersal of breeders from their native colony. However studies in presocial insects suggest that kin discrimination during mate choice may be a more common mechanism in socially simpler species with no reproductive division of labour. Here we examined this possibility in the subsocial cockroach Nauphoeta cinerea, a model species for research in sexual selection, where males establish dominance hierarchies to access females and control breeding territories. When given a binary choice between a sibling male and a non-sibling male that had the opportunity to establish a hierarchy prior to the tests, females mated preferentially with the dominant male, irrespective of kinship or body size. Despite the lack of kin discrimination during mate choice, inbred-mated females incurred significant fitness costs, producing 20% less offspring than outbred-mated females. We discuss how the social mating system of this territorial cockroach may naturally limit the probability of siblings to encounter and reproduce, without the need for evolving active inbreeding avoidance mechanisms, such as kin recognition. PMID:27655156

  18. Maternal effects of drought stress and inbreeding in Impatiens capensis (Balsaminaceae).

    PubMed

    Riginos, Corinna; Heschel, M Shane; Schmitt, Johanna

    2007-12-01

    Maternal effects can have substantial impacts on plant fitness and plant populations. Stressful environmental conditions can cause a maternal plant to inadequately provision its progeny, resulting in poor seedling growth, low reproductive success, and decreased competitive ability. Maternal effects consist of environmental and genetic load components, but the interactions between these two components have rarely been considered. To determine the effects of maternal drought stress and maternal inbreeding on progeny biomass (a fitness correlate) and physiological responses to drought stress, we conducted a greenhouse experiment with genetic lines from two populations (mesic site vs. dry site) of the herbaceous annual Impatiens capensis (Balsaminaceae). Seeds were collected from cleistogamous flowers of inbred or outcrossed maternal plants that were subject to either a drought or control treatment. These seeds were grown into juvenile plants that were also subject to either a drought stress or a control treatment. Plants from the mesic site had significantly reduced biomass from maternal drought stress, while plants from the dry site maintained biomass despite adverse maternal environmental conditions. Juvenile plants of both populations had reduced biomass only as a result of maternal inbreeding. Interestingly, inbreeding depression was more apparent when maternal environmental conditions were benign.

  19. Genomic methylation and transcriptomic profiling provides insights into heading depression in inbred Brassica rapa L. ssp. pekinensis.

    PubMed

    Liu, Yan; Xu, Cui; Tang, Xuebing; Pei, Surui; Jin, Di; Guo, Minghao; Yang, Meng; Zhang, Yaowei

    2018-07-30

    Inbreeding depression is the reduction in fitness observed in inbred populations. In plants, it leads to disease, weaker resistance to adverse environmental conditions, inhibition of growth, and decrease of yield. To elucidate molecular mechanisms behind inbreeding depression, we compared global DNA methylation and transcriptome profiles of a normal and a highly inbred heading degenerated variety of the Chinese cabbage (Brassica rapa L. ssp. pekinensis). DNA methylation was reduced in inbred plants, suggesting a change in the epigenetic landscape. Transcriptome analysis by RNA-Seq revealed that genes in auxin-response and synthesis pathways were differentially expressed in the inbreeding depression lines. Interestingly, methylation levels of some of those genes were also changed. Furthermore, endogenous IAA content was decreased in inbred plants, in agreement with expression and methylation data. Chemical inhibition of auxin also replicated the degenerated phenotype in normal plants, while exogenous IAA application had no effect in inbred depression plants, suggesting a more complex mechanism. These data indicate DNA methylation-regulated auxin pathways play a role in establishing inbred depression phenotypes in plants. Our findings reveal new insights into inbreeding depression and leafy head development in Chinese cabbage. Copyright © 2018 Elsevier B.V. All rights reserved.

  20. Neuroinfections caused by fungi.

    PubMed

    Góralska, Katarzyna; Blaszkowska, Joanna; Dzikowiec, Magdalena

    2018-05-21

    Fungal infections of the central nervous system (FIs-CNS) have become significantly more common over the past 2 decades. Invasion of the CNS largely depends on the immune status of the host and the virulence of the fungal strain. Infections with fungi cause a significant morbidity in immunocompromised hosts, and the involvement of the CNS may lead to fatal consequences. One hundred and thirty-five articles on fungal neuroinfection in PubMed, Google Scholar, and Cochrane databases were selected for review using the following search words: "fungi and CNS mycoses", CNS fungal infections", "fungal brain infections", " fungal cerebritis", fungal meningitis", "diagnostics of fungal infections", and "treatment of CNS fungal infections". All were published in English with the majority in the period 2000-2018. This review focuses on the current knowledge of the epidemiology, clinical presentations, diagnosis, and treatment of selected FIs-CNS. The FIs-CNS can have various clinical presentations, mainly meningitis, encephalitis, hydrocephalus, cerebral abscesses, and stroke syndromes. The etiologic factors of neuroinfections are yeasts (Cryptococcus neoformans, Candida spp., Trichosporon spp.), moniliaceous moulds (Aspergillus spp., Fusarium spp.), Mucoromycetes (Mucor spp., Rhizopus spp.), dimorphic fungi (Blastomyces dermatitidis, Coccidioides spp., Histoplasma capsulatum), and dematiaceous fungi (Cladophialophora bantiana, Exophiala dermatitidis). Their common route of transmission is inhalation or inoculation from trauma or surgery, with subsequent hematogenous or contiguous spread. As the manifestations of FIs-CNS are often non-specific, their diagnosis is very difficult. A fast identification of the etiological factor of neuroinfection and the application of appropriate therapy are crucial in preventing an often fatal outcome. The choice of effective drug depends on its extent of CNS penetration and spectrum of activity. Pharmaceutical formulations of amphotericin B (AmB) (among others, deoxycholate-AmBd and liposomal L-AmB) have relatively limited distribution in the cerebrospinal fluid (CSF); however, their detectable therapeutic concentrations in the CNS makes them recommended drugs for the treatment of cryptococcal meningoencephalitis (AmBd with flucytosine) and CNS candidiasis (L-AmB) and mucormycosis (L-AmB). Voriconazole, a moderately lipophilic molecule with good CNS penetration, is recommended in the first-line therapy of CNS aspergillosis. Other triazoles, such as posaconazole and itraconazole, with negligible concentrations in the CSF are not considered effective drugs for therapy of CNS fungal neuroinfections. In contrast, clinical data have shown that a novel triazole, isavuconazole, achieved considerable efficacy for the treatment of some fungal neuroinfections. Echinocandins with relatively low or undetectable concentrations in the CSF do not play meaningful role in the treatment of FIs-CNS. Although the number of fungal species causing CNS mycosis is increasing, only some possess well-defined treatment standards (e.g., cryptococcal meningitis and CNS aspergillosis). The early diagnosis of fungal infection, accompanied by identification of the etiological factor, is needed to allow the selection of effective therapy in patients with FIs-CNS and limit their high mortality.

  1. O father where art thou? Paternity analyses in a natural population of the haploid-diploid seaweed Chondrus crispus.

    PubMed

    Krueger-Hadfield, S A; Roze, D; Correa, J A; Destombe, C; Valero, M

    2015-02-01

    The link between life history traits and mating systems in diploid organisms has been extensively addressed in the literature, whereas the degree of selfing and/or inbreeding in natural populations of haploid-diploid organisms, in which haploid gametophytes alternate with diploid sporophytes, has been rarely measured. Dioecy has often been used as a proxy for the mating system in these organisms. Yet, dioecy does not prevent the fusion of gametes from male and female gametophytes originating from the same sporophyte. This is likely a common occurrence when spores from the same parent are dispersed in clumps and recruit together. This pattern of clumped spore dispersal has been hypothesized to explain significant heterozygote deficiency in the dioecious haploid-diploid seaweed Chondrus crispus. Fronds and cystocarps (structures in which zygotes are mitotically amplified) were sampled in two 25 m(2) plots located within a high and a low intertidal zone and genotyped at 5 polymorphic microsatellite loci in order to explore the mating system directly using paternity analyses. Multiple males sired cystocarps on each female, but only one of the 423 paternal genotypes corresponded to a field-sampled gametophyte. Nevertheless, larger kinship coefficients were detected between males siring cystocarps on the same female in comparison with males in the entire population, confirming restricted spermatial and clumped spore dispersal. Such dispersal mechanisms may be a mode of reproductive assurance due to nonmotile gametes associated with putatively reduced effects of inbreeding depression because of the free-living haploid stage in C. crispus.

  2. Effect of population outcrossing rate on inbreeding depression in Pinus contorta var. murrayana seedlings.

    Treesearch

    Frank C. Sorensen

    2001-01-01

    Seft and cross families from three populatons (A, low-density, ecologically marginal site for lodgepole pine, and B + C, normal sites) were cultured in a common outdoor nursery for 2 yrs. Previous results results had shown higher natural selfing rates and lower inbreeding depression in embryo survival in A than in B + C. In the nursery test, selfing decreased means of...

  3. Increased genetic gains in sheep, beef and dairy breeding programs from using female reproductive technologies combined with optimal contribution selection and genomic breeding values.

    PubMed

    Granleese, Tom; Clark, Samuel A; Swan, Andrew A; van der Werf, Julius H J

    2015-09-14

    Female reproductive technologies such as multiple ovulation and embryo transfer (MOET) and juvenile in vitro embryo production and embryo transfer (JIVET) can boost rates of genetic gain but they can also increase rates of inbreeding. Inbreeding can be managed using the principles of optimal contribution selection (OCS), which maximizes genetic gain while placing a penalty on the rate of inbreeding. We evaluated the potential benefits and synergies that exist between genomic selection (GS) and reproductive technologies under OCS for sheep and cattle breeding programs. Various breeding program scenarios were simulated stochastically including: (1) a sheep breeding program for the selection of a single trait that could be measured either early or late in life; (2) a beef breeding program with an early or late trait; and (3) a dairy breeding program with a sex limited trait. OCS was applied using a range of penalties (severe to no penalty) on co-ancestry of selection candidates, with the possibility of using multiple ovulation and embryo transfer (MOET) and/or juvenile in vitro embryo production and embryo transfer (JIVET) for females. Each breeding program was simulated with and without genomic selection. All breeding programs could be penalized to result in an inbreeding rate of 1 % increase per generation. The addition of MOET to artificial insemination or natural breeding (AI/N), without the use of GS yielded an extra 25 to 60 % genetic gain. The further addition of JIVET did not yield an extra genetic gain. When GS was used, MOET and MOET + JIVET programs increased rates of genetic gain by 38 to 76 % and 51 to 81 % compared to AI/N, respectively. Large increases in genetic gain were found across species when female reproductive technologies combined with genomic selection were applied and inbreeding was managed, especially for breeding programs that focus on the selection of traits measured late in life or that are sex-limited. Optimal contribution selection was an effective tool to optimally allocate different combinations of reproductive technologies. Applying a range of penalties to co-ancestry of selection candidates allows a comprehensive exploration of the inbreeding vs. genetic gain space.

  4. Linkage Disequilibrium in a Finite Population That Is Partially Selfing

    PubMed Central

    Golding, G. B.; Strobeck, C.

    1980-01-01

    The linkage disequilibrium expected in a finite, partially selfing population is analyzed, assuming the infinite allele model. Formulas for the expected sum of squares of the linkage disequilibria and the squared standard linkage disequilibrium are derived from the equilibrium values of sixteen inbreeding coefficients required to describe the behavior of the system. These formulas are identical to those obtained with random mating if the effective population size Ne = (1-½S)N and the effective recombination value re = (1-S)r/(1-½S), where S is the proportion of selfing, are substituted for the population size and the recombination value. Therefore, the effect of partial selfing at equilibrium is to reduce the population size by a factor 1-½S and the recombination value by a factor (1-S)/(1-½S). PMID:17249017

  5. Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents.

    PubMed

    Juberg, R C; Gershanik, J J

    1976-06-01

    We describe a female infant with the cervical vertebral fusion (Klippel-Feil) syndrome whom we recognized at birth because of her short neck, restriction of cervical movement, and low posterior hairline. X-ray examination showed anomalies of C1, and between C2-3 and C3-4; thus, we classified her as type II, with variable cervical fusion. At 24 months she was small and manifested hearing deficiency. The mother and father were consanguineous with five common ancestors four generations ago, which resulted in a coefficient of inbreeding equivalent to a second cousin relationship. The parents and grandparents were phenotypically normal, and the parents were radiologically normal. This form of the syndrome has previously been said to be autosomal dominant. Our conclusion of determination by a single autosomal recessive gene is evidence of genetic heterogeneity.

  6. Prevalence of consanguineous marriages among Iranian Georgians.

    PubMed

    Rafiee, Laleh; Saadat, Mostafa

    2011-01-01

    Consanguineous marriage--marriage between relatives--has received a great deal of attention as a potential risk factor for many adverse health outcomes. The present cross-sectional study was done in order to illustrate the prevalence and types of consanguineous marriages among Iranian Georgians living in Frydoonshahr (Isfahan province, central Iran). Data on consanguineous marriages were collected using a simple questionnaire. The total number of couples in this study was 646. Consanguineous marriage was classified by the degree of relationship between couples. First cousin marriages (14.2%) were the most common type of consanguineous marriages, followed by second cousin (7.0%), beyond second cousin (1.5%) and first cousin once removed (0.6%). The mean inbreeding coefficient (α) was calculated as 0.0104 for the population. The present study shows that the study population, as other Iranian populations, has a high level of consanguinity.

  7. Bayesian analysis of multi-state data with individual covariates for estimating genetic effects on demography

    USGS Publications Warehouse

    Converse, Sarah J.; Royle, J. Andrew; Urbanek, Richard P.

    2012-01-01

    Inbreeding depression is frequently a concern of managers interested in restoring endangered species. Decisions to reduce the potential for inbreeding depression by balancing genotypic contributions to reintroduced populations may exact a cost on long-term demographic performance of the population if those decisions result in reduced numbers of animals released and/or restriction of particularly successful genotypes (i.e., heritable traits of particular family lines). As part of an effort to restore a migratory flock of Whooping Cranes (Grus americana) to eastern North America using the offspring of captive breeders, we obtained a unique dataset which includes post-release mark-recapture data, as well as the pedigree of each released individual. We developed a Bayesian formulation of a multi-state model to analyze radio-telemetry, band-resight, and dead recovery data on reintroduced individuals, in order to track survival and breeding state transitions. We used studbook-based individual covariates to examine the comparative evidence for and degree of effects of inbreeding, genotype, and genotype quality on post-release survival of reintroduced individuals. We demonstrate implementation of the Bayesian multi-state model, which allows for the integration of imperfect detection, multiple data types, random effects, and individual- and time-dependent covariates. Our results provide only weak evidence for an effect of the quality of an individual's genotype in captivity on post-release survival as well as for an effect of inbreeding on post-release survival. We plan to integrate our results into a decision-analytic modeling framework that can explicitly examine tradeoffs between the effects of inbreeding and the effects of genotype and demographic stochasticity on population establishment.

  8. Demographic consequences of inbreeding and outbreeding in Arnica montana: A field experiment

    USGS Publications Warehouse

    Luijten, S.H.; Kery, M.; Oostermeijer, J.G.B.; Den, Nijs H.J.C.M.

    2002-01-01

    1. The genetic constitution of populations may significantly affect demography. Founder populations or isolated remnants may show inbreeding depression, while established populations can be strongly adapted to the local environment. Gene exchange between populations can lead to better performance if heterozygosity levels are restored (heterosis), or to reduced performance if coadapted gene complexes are disrupted (outbreeding depression). 2. Five populations of the self-incompatible perennial Arnica montana (Asteraceae) were analysed for the demographic consequences of inbreeding and of intra- and interpopulation outcrossing, using both small and large populations as donors for the latter. We analysed seed production and seed weight and monitored growth, survival and flowering of offspring introduced as seeds and as 4-week-old seedlings in a 4-year field experiment. 3. Reduced seed set after selfing was probably due to the self-incompatibility system rather than to inbreeding depression. There was a significant increase for seed set after interpopulation crosses, which resulted from the alleviation of low mate availability in one of the small populations. 4. Significant inbreeding depression was observed for growth rates of plants introduced as seedlings. We found significant heterosis for flowering probability of plants introduced as seeds, but for plants introduced as seedlings, heterosis for seedling size and flowering probability was only marginally significant. Outbreeding depression was not observed. 5. The results of this study are important for reinforcement measures in small, remnant populations. Significant differences among populations for all measured fitness components suggest that reinforcement is best achieved using material from several populations. 6. The observed higher survival of seedlings as compared with seeds suggests that it is better to plant individuals than to sow. Sowing, however, is easier and cheaper, and was more likely to eliminate poorly adapted genotypes before they contribute to the next generation.

  9. How much gene flow is needed to avoid inbreeding depression in wild tiger populations?

    PubMed Central

    Kenney, John; Allendorf, Fred W.; McDougal, Charles; Smith, James L. D.

    2014-01-01

    The number and size of tiger populations continue to decline owing to habitat loss, habitat fragmentation and poaching of tigers and their prey. As a result, tiger populations have become small and highly structured. Current populations have been isolated since the early 1970s or for approximately seven generations. The objective of this study is to explore how inbreeding may be affecting the persistence of remaining tiger populations and how dispersal, either natural or artificial, may reduce the potentially detrimental effect of inbreeding depression. We developed a tiger simulation model and used published levels of genetic load in mammals to simulate inbreeding depression. Following a 50 year period of population isolation, we introduced one to four dispersing male tigers per generation to explore how gene flow from nearby populations may reduce the negative impact of inbreeding depression. For the smallest populations, even four dispersing male tigers per generation did not increase population viability, and the likelihood of extinction is more than 90% within 30 years. Unless habitat connectivity is restored or animals are artificially introduced in the next 70 years, medium size wild populations are also likely to go extinct, with only four to five of the largest wild tiger populations likely to remain extant in this same period without intervention. To reduce the risk of local extinction, habitat connectivity must be pursued concurrently with efforts to increase population size (e.g. enhance habitat quality, increase habitat availability). It is critical that infrastructure development, dam construction and other similar projects are planned appropriately so that they do not erode the extent or quality of habitat for these populations so that they can truly serve as future source populations. PMID:24990671

  10. How much gene flow is needed to avoid inbreeding depression in wild tiger populations?

    PubMed

    Kenney, John; Allendorf, Fred W; McDougal, Charles; Smith, James L D

    2014-08-22

    The number and size of tiger populations continue to decline owing to habitat loss, habitat fragmentation and poaching of tigers and their prey. As a result, tiger populations have become small and highly structured. Current populations have been isolated since the early 1970s or for approximately seven generations. The objective of this study is to explore how inbreeding may be affecting the persistence of remaining tiger populations and how dispersal, either natural or artificial, may reduce the potentially detrimental effect of inbreeding depression. We developed a tiger simulation model and used published levels of genetic load in mammals to simulate inbreeding depression. Following a 50 year period of population isolation, we introduced one to four dispersing male tigers per generation to explore how gene flow from nearby populations may reduce the negative impact of inbreeding depression. For the smallest populations, even four dispersing male tigers per generation did not increase population viability, and the likelihood of extinction is more than 90% within 30 years. Unless habitat connectivity is restored or animals are artificially introduced in the next 70 years, medium size wild populations are also likely to go extinct, with only four to five of the largest wild tiger populations likely to remain extant in this same period without intervention. To reduce the risk of local extinction, habitat connectivity must be pursued concurrently with efforts to increase population size (e.g. enhance habitat quality, increase habitat availability). It is critical that infrastructure development, dam construction and other similar projects are planned appropriately so that they do not erode the extent or quality of habitat for these populations so that they can truly serve as future source populations. © 2014 The Author(s) Published by the Royal Society. All rights reserved.

  11. Let's stay together? Intrinsic and extrinsic factors involved in pair bond dissolution in a recolonizing wolf population.

    PubMed

    Milleret, Cyril; Wabakken, Petter; Liberg, Olof; Åkesson, Mikael; Flagstad, Øystein; Andreassen, Harry Peter; Sand, Håkan

    2017-01-01

    For socially monogamous species, breeder bond dissolution has important consequences for population dynamics, but the extent to which extrinsic or intrinsic population factors causes pair dissolution remain poorly understood, especially among carnivores. Using an extensive life-history data set, a survival analysis and competing risks framework, we examined the fate of 153 different wolf (Canis lupus) pairs in the recolonizing Scandinavian wolf population, during 14 winters of snow tracking and DNA monitoring. Wolf pair dissolution was generally linked to a mortality event and was strongly affected by extrinsic (i.e. anthropogenic) causes. No divorce was observed, and among the pair dissolution where causes have been identified, death of one or both wolves was always involved. Median time from pair formation to pair dissolution was three consecutive winters (i.e. approximately 2 years). Pair dissolution was mostly human-related, primarily caused by legal control actions (36·7%), verified poaching (9·2%) and traffic-related causes (2·1%). Intrinsic factors, such as disease and age, accounted for only 7·7% of pair dissolutions. The remaining 44·3% of dissolution events were from unknown causes, but we argue that a large portion could be explained by an additional source of human-caused mortality, cryptic poaching. Extrinsic population factors, such as variables describing the geographical location of the pair, had a stronger effect on risk of pair dissolution compared to anthropogenic landscape characteristics. Population intrinsic factors, such as the inbreeding coefficient of the male pair member, had a negative effect on pair bond duration. The mechanism behind this result remains unknown, but might be explained by lower survival of inbred males or more complex inbreeding effects mediated by behaviour. Our study provides quantitative estimates of breeder bond duration in a social carnivore and highlights the effect of extrinsic (i.e. anthropogenic) and intrinsic factors (i.e. inbreeding) involved in wolf pair bond duration. Unlike the effects of intrinsic and extrinsic factors that are commonly reported on individual survival or population growth, here we provide quantitative estimates of their potential effect on the social unit of the population, the wolf pair. © 2016 The Authors. Journal of Animal Ecology published by John Wiley & Sons Ltd on behalf of British Ecological Society.

  12. Characterization of the genetic diversity and population structure for the yellow cattle in Taiwan based on microsatellite markers.

    PubMed

    Tu, Po-An; Lin, Der-Yuh; Li, Guang-Fu; Huang, Jan-Chi; Wang, De-Chi; Wang, Pei-Hwa

    2014-01-01

    In recent years, the population size of Taiwan yellow cattle has drastically declined, even become endangered. A preservation project, Taiwan Yellow Cattle Genetic Preservation Project (TYCGPP), was carried out at the Livestock Research Institute (LRI) Hengchun branch (1988-present). An analysis of intra- and inter- population variability was performed to be the first step to preserve this precious genetic resource. In this work, a total number of 140 individuals selected from the five Taiwan yellow cattle populations were analyzed using 12 microsatellite markers (loci). These markers determined the level of genetic variation within and among populations as well as the phylogenetic structure. The total number of alleles detected (122, 10.28 per locus) and the expected heterozygosity (0.712) indicated that these five populations had a high level of genetic variability. Bayesian cluster analysis showed that the most likely number of groups was 2 (K = 2). Genetic differentiation among clusters was moderate (F ST = 0.095). The result of AMOVA showed that yellow cattle in Taiwan had maintained a high level of within-population genetic differentiation (91%), the remainder being accounted for by differentiation among subpopulations (4%), and by differentiation among regions (5%). The results of STRUCTURE and principal component analysis (PCA) revealed two divergent clusters. The individual unrooted phylogenetic tree showed that some Kinmen yellow cattle in the Hengchun facility (KMHC individuals) were overlapped with Taiwan yellow cattle (TW) and Taiwan yellow cattle Hengchun (HC) populations. Also, they were overlapped with Kinmen × Taiwan (KT) and Kinmen yellow cattle (KM) populations. It is possible that KMHC kept similar phenotypic characteristics and analogous genotypes between TW and KM. A significant inbreeding coefficient (F IS = 0.185; P < 0.01) was detected, suggesting a medium level of inbreeding for yellow cattle in Taiwan. The hypothesis that yellow cattle in Taiwan were derived from two different clusters was also supported by the phylogenetic tree constructed by the UPGMA, indicating that the yellow cattle in Taiwan and in Kinmen should be treated as two different management units. This result will be applied to maintain a good level of genetic variability and rusticity (stress-resistance) and to avoid further inbreeding for yellow cattle population in Taiwan.

  13. Validation de la version française de l’échelle multidimensionnelle des conduites de négligence parentale

    PubMed Central

    Bérubé, Annie; Chamberland, Claire

    2017-01-01

    Objectif: La mesure de la négligence parentale pose de nombreux défis et il existe encore peu d’outil capable de la documenter auprès des parents. L’étude vise à documenter les propriétés psychométriques de la traduction française de la version brève de l’Échelle multidimensionnelle des conduites de négligence parentale dans la population générale. Méthode: Cette étude utilise les données d’une enquête téléphonique réalisée auprès d’un échantillon représentatif de 3584 mères et 1202 pères d’enfants âgés entre 6 mois-4 ans, 5-9 ans et 10-15 ans. Des liens sont établis entre la négligence et plusieurs autres facteurs connus pour leurs liens avec la problématique, dont les conduites parentales à caractère violent, le stress lié au tempérament perçu difficile de l’enfant et à la conciliation travail-famille, la consommation d’alcool et de drogues, les symptômes de dépression, la pauvreté, et le soutien social. Résultats: Les analyses factorielles exploratoires montrent la présence de diverses dimensions de la négligence concernant les besoins affectifs/cognitifs, physiques (soins de base) et de supervision des enfants. Bien que les dimensions soient étroitement associées aux facteurs de vulnérabilité psychosociale des enfants et des familles, les coefficients de cohérence interne sont faibles, variant entre 0,20 et 0,64. Conclusion: Des recommandations sont émises pour améliorer la mesure dans la population générale, et notamment la dimension de supervision parentale qui pose des défis particuliers. PMID:28359164

  14. USSR and Eastern Europe Scientific Abstracts. Biomedical and Behavioral Sciences. Number 56.

    DTIC Science & Technology

    1976-11-08

    observa- tion of a patient and an exclusive orientation toward indirect methods of in- vestigation that do not injure the organism are the contribution...with contrast levels of analogous characters, using the inbreeding method . The hybrids were subjected to inbreeding; an accumulative sample for...of BhenoIoJca? and visual observations of resistance to unfavorable ecological conditions diseale and pests. This method requires very long periods

  15. Incest versus abstinence: reproductive trade-offs between mate limitation and progeny fitness in a self-incompatible invasive plant

    PubMed Central

    Pierson, Jennifer C; Swain, Stephen M; Young, Andrew G

    2013-01-01

    Plant mating systems represent an evolutionary and ecological trade-off between reproductive assurance through selfing and maximizing progeny fitness through outbreeding. However, many plants with sporophytic self-incompatibility systems exhibit dominance interactions at the S-locus that allow biparental inbreeding, thereby facilitating mating between individuals that share alleles at the S-locus. We investigated this trade-off by estimating mate availability and biparental inbreeding depression in wild radish from five different populations across Australia. We found dominance interactions among S-alleles increased mate availability relative to estimates based on individuals that did not share S-alleles. Twelve of the sixteen fitness variables were significantly reduced by inbreeding. For all the three life-history phases evaluated, self-fertilized offspring suffered a greater than 50% reduction in fitness, while full-sib and half-sib offspring suffered a less than 50% reduction in fitness. Theory indicates that fitness costs greater than 50% can result in an evolutionary trajectory toward a stable state of self-incompatibility (SI). This study suggests that dominance interactions at the S-locus provide a possible third stable state between SI and SC where biparental inbreeding increases mate availability with relatively minor fitness costs. This strategy allows weeds to establish in new environments while maintaining a functional SI system. PMID:24455137

  16. Incest versus abstinence: reproductive trade-offs between mate limitation and progeny fitness in a self-incompatible invasive plant.

    PubMed

    Pierson, Jennifer C; Swain, Stephen M; Young, Andrew G

    2013-12-01

    Plant mating systems represent an evolutionary and ecological trade-off between reproductive assurance through selfing and maximizing progeny fitness through outbreeding. However, many plants with sporophytic self-incompatibility systems exhibit dominance interactions at the S-locus that allow biparental inbreeding, thereby facilitating mating between individuals that share alleles at the S-locus. We investigated this trade-off by estimating mate availability and biparental inbreeding depression in wild radish from five different populations across Australia. We found dominance interactions among S-alleles increased mate availability relative to estimates based on individuals that did not share S-alleles. Twelve of the sixteen fitness variables were significantly reduced by inbreeding. For all the three life-history phases evaluated, self-fertilized offspring suffered a greater than 50% reduction in fitness, while full-sib and half-sib offspring suffered a less than 50% reduction in fitness. Theory indicates that fitness costs greater than 50% can result in an evolutionary trajectory toward a stable state of self-incompatibility (SI). This study suggests that dominance interactions at the S-locus provide a possible third stable state between SI and SC where biparental inbreeding increases mate availability with relatively minor fitness costs. This strategy allows weeds to establish in new environments while maintaining a functional SI system.

  17. Inbreeding and thermal adaptation in Drosophila subobscura.

    PubMed

    Zivanovic, Goran; Arenas, Conxita; Mestres, Francesc

    2014-09-01

    Using a well-adapted Drosophila subobscura population (Avala, Serbia), a drastic experiment of inbreeding was carried out to assess whether the expected level of homozygosity could be reached or if other evolutionary forces affected the process. In general, no significant changes of inversion (or arrangement) frequencies were detected after 12 brother-sister mating generations. Furthermore, no significant differences were obtained between observed and expected (under the inbreeding model) karyotypic frequencies. Thus, these results seemed to indicate that the main evolutionary factor in the experiment was inbreeding. However, in the G12 generation, complete chromosomal fixation was reached only in two out of the eight final inbred lines. In these lines, the chromosomal compositions were difficult to interpret, but they could be likely a consequence of adaptation to particular laboratory conditions (constant 18 °C, food, light period, etc.). Finally, in a second experiment, the inbred lines presented higher fertility at 18 °C than at 13 °C. Also, there was a significant line effect on fertility: inbred line number 6 (A1, J1, U1+2; U1+2+6, E8, and O3+4+7) presented the highest values, which maybe the result of an adaptation to laboratory conditions. Thus, the results obtained in our experiments reflect the adaptive potential of D. subobscura inversions.

  18. Inbreeding and disease resistance in a social insect: effects of heterozygosity on immunocompetence in the termite Zootermopsis angusticollis

    PubMed Central

    Calleri, Daniel V; McGrail Reid, Ellen; Rosengaus, Rebeca B; Vargo, Edward L; Traniello, James F.A

    2006-01-01

    Recent research has shown that low genetic variation in individuals can increase susceptibility to infection and group living may exacerbate pathogen transmission. In the eusocial diploid termites, cycles of outbreeding and inbreeding characterizing basal species can reduce genetic variation within nestmates during the life of a colony, but the relationship of genetic heterogeneity to disease resistance is poorly understood. Here we show that, one generation of inbreeding differentially affects the survivorship of isolated and grouped termites (Zootermopsis angusticollis) depending on the nature of immune challenge and treatment. Inbred and outbred isolated and grouped termites inoculated with a bacterial pathogen, exposed to a low dose of fungal pathogen or challenged with an implanted nylon monofilament had similar levels of immune defence. However, inbred grouped termites exposed to a relatively high concentration of fungal conidia had significantly greater mortality than outbred grouped termites. Inbred termites also had significantly higher cuticular microbial loads, presumably due to less effective grooming by nestmates. Genetic analyses showed that inbreeding significantly reduced heterozygosity and allelic diversity. Decreased heterozygosity thus appeared to increase disease susceptibility by affecting social behaviour or some other group-level process influencing infection control rather than affecting individual immune physiology. PMID:17002949

  19. On the widespread capacity for, and functional significance of, extreme inbreeding in ferns.

    PubMed

    Sessa, Emily B; Testo, Weston L; Watkins, James E

    2016-08-01

    Homosporous vascular plants utilize three different mating systems, one of which, gametophytic selfing, is an extreme form of inbreeding only possible in homosporous groups. This mating system results in complete homozygosity in all progeny and has important evolutionary and ecological implications. Ferns are the largest group of homosporous land plants, and the significance of extreme inbreeding for fern evolution has been a subject of debate for decades. We cultured gametophytes in the laboratory and quantified the relative frequencies of sporophyte production from isolated and paired gametophytes, and examined associations between breeding systems and several ecological and evolutionary traits. The majority of fern species studied show a capacity for gametophytic selfing, producing sporophytes from both isolated and paired gametophytes. While we did not follow sporophytes to maturity to investigate potential detrimental effects of homozygosity at later developmental stages, our results suggest that gametophytic selfing may have greater significance for fern evolution and diversification than has previously been realized. We present evidence from the largest study of mating behavior in ferns to date that the capacity for extreme inbreeding is prevalent in this lineage, and we discuss its implications and relevance and make recommendations for future studies of fern mating systems. © 2016 The Authors. New Phytologist © 2016 New Phytologist Trust.

  20. Microsatellite and Mitochondrial DNA Study of Native Eastern European Cattle Populations: The Case of the Romanian Grey

    PubMed Central

    Cean, Ada; Cziszter, Ludovic Toma; Gavojdian, Dinu; Ivan, Alexandra

    2015-01-01

    The Eastern European Grey cattle are regarded as the direct descendants of the aurochs (Bos taurus primigenius). Nowadays in Romania, less than 100 Grey animals are being reared and included in the national gene reserve. We examined the genetic diversity among Romanian Grey, Brown, Spotted and Black and White cattle breeds, with a particular focus on Romanian Grey through the use of (i) 11 bovine specific microsatellite markers on 83 animals and (ii) 638 bp length of mitochondrial DNA (mtDNA) D-loop region sequence data from a total of 81 animals. Both microsatellite and mtDNA analysis revealed a high level of genetic variation in the studied breeds. In Romanian Grey a total of 100 alleles were found, the mean number of observed alleles per locus was 9.091; the average observed heterozygosity was 0.940; the Wright’s fixation index (FIS) was negative (-0.189) and indicates that there is no inbreeding and no selection pressure. MtDNA analysis revealed 52 haplotypes with 67 variable sites among the Romanian cattle breeds without any insertion or deletion. Haplotype diversity was 0.980 ± 0.007 and ranged from 0.883 ± 0.056 (Brown) to 0.990 ± 0.028 (Spotted and Black and White). The highest genetic variability of the mtDNA was recorded in the Grey breed, where 18 haplotypes were identified. The most frequent mtDNA D-loop region belonged to T3 haplogroup (80.247%), which was found across all studied breeds, while T2 haplotypes (16.049%) was only found in Grey, Spotted and Black and White genotypes. The T1 haplotypes (3.704%) were found in the Grey and Spotted. The current results contribute to the general knowledge on genetic diversity found in Eastern European cattle breeds and could prove a valuable tool for the conservation efforts of animal genetic resources (FAnGR). PMID:26398563

  1. Genetic Diversity and Population Structure of the Rare and Endangered Plant Species Pulsatilla patens (L.) Mill in East Central Europe.

    PubMed

    Szczecińska, Monika; Sramko, Gabor; Wołosz, Katarzyna; Sawicki, Jakub

    2016-01-01

    Pulsatilla patens s.s. is a one of the most endangered plant species in Europe. The present range of this species in Europe is highly fragmented and the size of the populations has been dramatically reduced in the past 50 years. The rapid disappearance of P. patens localities in Europe has prompted the European Commission to initiate active protection of this critically endangered species. The aim of this study was to estimate the degree and distribution of genetic diversity within European populations of this endangered species. We screened 29 populations of P. patens using a set of six microsatellite primers. The results of our study indicate that the analyzed populations are characterized by low levels of genetic diversity (Ho = 0.005) and very high levels of inbreeding (FIS = 0.90). These results suggest that genetic erosion could be partially responsible for the lower fitness in smaller populations of this species. Private allelic richness was very low, being as low as 0.00 for most populations. Average genetic diversity over loci and mean number of alleles in P. patens populations were significantly correlated with population size, suggesting severe genetic drift. The results of AMOVA point to higher levels of variation within populations than between populations.The results of Structure and PCoA analyses suggest that the genetic structure of the studied P. patens populations fall into three clusters corresponding to geographical regions. The most isolated populations (mostly from Romania) formed a separate group with a homogeneous gene pool located at the southern, steppic part of the distribution range. Baltic, mostly Polish, populations fall into two genetic groups which were not fully compatible with their geographic distribution.Our results indicate the serious genetic depauperation of P. patens in the western part of its range, even hinting at an ongoing extinction vortex. Therefore, special conservation attention is required to maintain the populations of this highly endangered species of European Community interest.

  2. Population Structure, Genetic Diversity, Effective Population Size, Demographic History and Regional Connectivity Patterns of the Endangered Dusky Grouper, Epinephelus marginatus (Teleostei: Serranidae), within Malta’s Fisheries Management Zone

    PubMed Central

    Vella, Adriana

    2016-01-01

    The objective of this study is to describe the genetic population structure and demographic history of the endangered marine fish, Epinephelus marginatus, within Malta’s Fisheries Management Zone for the purpose of localised conservation planning. Epinephelus marginatus is a long-lived, sedentary, reef-associated protogynous hermaphrodite with high commercial and recreational value that is at risk of extinction throughout its global distribution. Based on global trends, population substructuring and gaps in local knowledge this has led to an increased interest in evaluation of local stock. Assessment of Maltese demography was based on historical and contemporary catch landings data whilst genetic population structure and regional connectivity patterns were evaluated by examining 175 individuals collected within the central Mediterranean region between 2002 and 2009 using 14 nuclear microsatellite loci. Demographic stock assessment of Maltese E. marginatus’ revealed a 99% decline in catch landings between 1947 and 2009 within the Fisheries Management Zone. A contemporary modest mean size was observed, 3 ± 3 kg, where approximately 17% of the population was juvenile, 68% female/sex-changing and 15% were male with a male-to-female sex ratio of 1:5. Genetic analysis describes the overall population of E. marginatus’ within the Fisheries Management Zone as decreasing in size (ƟH = 2.2), which has gone through a significant size reduction in the past (M = 0.41) and consequently shows signs of moderate inbreeding (FIS = 0.10, p < 0.001) with an estimated effective population size of 130 individuals. Results of spatially explicit Bayesian genetic cluster analysis detected two geographically distinct subpopulations within Malta’s Fisheries Management Zone and that they are connected to a larger network of E. marginatus’ within the Sicily Channel. Results suggest conservation management should be designed to reflect E. marginatus’ within Malta’s Fisheries Management Zone as two management units. PMID:27463811

  3. Genetic diversity and population structure of Prunus mira (Koehne) from the Tibet plateau in China and recommended conservation strategies

    PubMed Central

    Bao, Wenquan; Li, Tiezhu; Liu, Huimin; Jiang, Zhongmao; Zhu, Xuchun; Du, Hongyan; Bai, Yu-e

    2017-01-01

    Prunus mira Koehne, an important economic fruit crop with high breeding and medicinal values, and an ancestral species of many cultivated peach species, has recently been declared an endangered species. However, basic information about genetic diversity, population structure, and morphological variation is still limited for this species. In this study, we sampled 420 P. mira individuals from 21 wild populations in the Tibet plateau to conduct a comprehensive analysis of genetic and morphological characteristics. The results of molecular analyses based on simple sequence repeat (SSR) markers indicated moderate genetic diversity and inbreeding (A = 3.8, Ae = 2.5, He = 0.52, Ho = 0.44, I = 0.95, FIS = 0.17) within P. mira populations. STRUCTURE, GENELAND, and phylogenetic analyses assigned the 21 populations to three genetic clusters that were moderately correlated with geographic altitudes, and this may have resulted from significantly different climatic and environmental factors at different altitudinal ranges. Significant isolation-by-distance was detected across the entire distribution of P. mira populations, but geographic altitude might have more significant effects on genetic structure than geographic distance in partial small-scale areas. Furthermore, clear genetic structure, high genetic differentiation, and restricted gene flow were detected between pairwise populations from different geographic groups, indicating that geographic barriers and genetic drift have significant effects on P. mira populations. Analyses of molecular variance based on the SSR markers indicated high variation (83.7% and 81.7%), whereas morphological analyses revealed low variation (1.30%–36.17%) within the populations. Large and heavy fruits were better adapted than light fruits and nutlets to poor climate and environmental conditions at high altitudes. Based on the results of molecular and morphological analyses, we classified the area into three conservation units and proposed several conservation strategies for wild P. mira populations in the Tibet plateau. PMID:29186199

  4. Genetic diversity and population structure of Prunus mira (Koehne) from the Tibet plateau in China and recommended conservation strategies.

    PubMed

    Bao, Wenquan; Wuyun, Tana; Li, Tiezhu; Liu, Huimin; Jiang, Zhongmao; Zhu, Xuchun; Du, Hongyan; Bai, Yu-E

    2017-01-01

    Prunus mira Koehne, an important economic fruit crop with high breeding and medicinal values, and an ancestral species of many cultivated peach species, has recently been declared an endangered species. However, basic information about genetic diversity, population structure, and morphological variation is still limited for this species. In this study, we sampled 420 P. mira individuals from 21 wild populations in the Tibet plateau to conduct a comprehensive analysis of genetic and morphological characteristics. The results of molecular analyses based on simple sequence repeat (SSR) markers indicated moderate genetic diversity and inbreeding (A = 3.8, Ae = 2.5, He = 0.52, Ho = 0.44, I = 0.95, FIS = 0.17) within P. mira populations. STRUCTURE, GENELAND, and phylogenetic analyses assigned the 21 populations to three genetic clusters that were moderately correlated with geographic altitudes, and this may have resulted from significantly different climatic and environmental factors at different altitudinal ranges. Significant isolation-by-distance was detected across the entire distribution of P. mira populations, but geographic altitude might have more significant effects on genetic structure than geographic distance in partial small-scale areas. Furthermore, clear genetic structure, high genetic differentiation, and restricted gene flow were detected between pairwise populations from different geographic groups, indicating that geographic barriers and genetic drift have significant effects on P. mira populations. Analyses of molecular variance based on the SSR markers indicated high variation (83.7% and 81.7%), whereas morphological analyses revealed low variation (1.30%-36.17%) within the populations. Large and heavy fruits were better adapted than light fruits and nutlets to poor climate and environmental conditions at high altitudes. Based on the results of molecular and morphological analyses, we classified the area into three conservation units and proposed several conservation strategies for wild P. mira populations in the Tibet plateau.

  5. Microsatellite and Mitochondrial DNA Study of Native Eastern European Cattle Populations: The Case of the Romanian Grey.

    PubMed

    Ilie, Daniela Elena; Cean, Ada; Cziszter, Ludovic Toma; Gavojdian, Dinu; Ivan, Alexandra; Kusza, Szilvia

    2015-01-01

    The Eastern European Grey cattle are regarded as the direct descendants of the aurochs (Bos taurus primigenius). Nowadays in Romania, less than 100 Grey animals are being reared and included in the national gene reserve. We examined the genetic diversity among Romanian Grey, Brown, Spotted and Black and White cattle breeds, with a particular focus on Romanian Grey through the use of (i) 11 bovine specific microsatellite markers on 83 animals and (ii) 638 bp length of mitochondrial DNA (mtDNA) D-loop region sequence data from a total of 81 animals. Both microsatellite and mtDNA analysis revealed a high level of genetic variation in the studied breeds. In Romanian Grey a total of 100 alleles were found, the mean number of observed alleles per locus was 9.091; the average observed heterozygosity was 0.940; the Wright's fixation index (FIS) was negative (-0.189) and indicates that there is no inbreeding and no selection pressure. MtDNA analysis revealed 52 haplotypes with 67 variable sites among the Romanian cattle breeds without any insertion or deletion. Haplotype diversity was 0.980 ± 0.007 and ranged from 0.883 ± 0.056 (Brown) to 0.990 ± 0.028 (Spotted and Black and White). The highest genetic variability of the mtDNA was recorded in the Grey breed, where 18 haplotypes were identified. The most frequent mtDNA D-loop region belonged to T3 haplogroup (80.247%), which was found across all studied breeds, while T2 haplotypes (16.049%) was only found in Grey, Spotted and Black and White genotypes. The T1 haplotypes (3.704%) were found in the Grey and Spotted. The current results contribute to the general knowledge on genetic diversity found in Eastern European cattle breeds and could prove a valuable tool for the conservation efforts of animal genetic resources (FAnGR).

  6. Food Insecurity and Rural Adolescent Personal Health, Home, and Academic Environments.

    PubMed

    Shanafelt, Amy; Hearst, Mary O; Wang, Qi; Nanney, Marilyn S

    2016-06-01

    Food-insecure (FIS) adolescents struggle in school and with health and mental health more often than food-secure (FS) adolescents. Rural communities experience important disparities in health, but little is known about rural FIS adolescents. This study aims to describe select characteristics of rural adolescents by food-security status. Baseline analysis using data from a randomized trial to increase school breakfast participation (SBP) in rural Minnesota high schools. Students completed a survey regarding food security, characteristics, and home and school environments. Schools provided academic data and staff measured height and weight. Food security was dichotomized as FS vs FIS. Bivariate analysis, multivariate linear/logistic regression, and testing for interaction of food security and sex were performed. Food-insecure adolescents reported poorer health, less exercise, had lower grades, and higher SBP (p < .01). Food-insecure adolescents reported marginally fewer barriers (p = .06) and more benefits of breakfast (p = .05). All associations except reported benefits remained significant after adjustment. Interactions were identified with girls' grade point average and with boys' caloric and added sugar intake. Negative associations among food insecurity and positive youth development are identified in our sample. Policy and environmental strategies should address the complexities of these associations, including exploration of the role of school meals. © 2016, American School Health Association.

  7. Everyday Functioning Benefits from an Assisted Living Platform amongst Frail Older Adults and Their Caregivers

    PubMed Central

    Dupuy, Lucile; Froger, Charlotte; Consel, Charles; Sauzéon, Hélène

    2017-01-01

    Ambient assisted living technologies (AAL) are regarded as a promising solution to support aging in place. Yet, their efficacy has to be demonstrated in terms of benefits for independent living and for work conditions of caregivers. Hence, the purpose of this study was to assess the benefits of a multi-task AAL platform for both Frail older Individuals (FIs) and professional caregivers with respect to everyday functioning and caregiver burden. In this context, a 6-month field study involved 32 FIs living at home (half of them were equipped by the platform and the remaining half were not, as a control condition) and their caregivers. Everyday functioning measures were reported by frail participants and caregivers. Self-reported burden measures of caregiver were also collected. The main results showed that the caregiver's estimates of everyday functioning of equipped participants were unchanged across time, while they decreased for the control participants. Also, a reduction of self-reported objective burden was obtained after 6 months of AAL intervention for the equipped group, compared to the control group. Overall, these results highlighted the potential of AAL as a relevant environmental support for preventing both functional losses in FIs and objective burden professional caregiver. PMID:29033826

  8. Classification of Microarray Data Using Kernel Fuzzy Inference System

    PubMed Central

    Kumar Rath, Santanu

    2014-01-01

    The DNA microarray classification technique has gained more popularity in both research and practice. In real data analysis, such as microarray data, the dataset contains a huge number of insignificant and irrelevant features that tend to lose useful information. Classes with high relevance and feature sets with high significance are generally referred for the selected features, which determine the samples classification into their respective classes. In this paper, kernel fuzzy inference system (K-FIS) algorithm is applied to classify the microarray data (leukemia) using t-test as a feature selection method. Kernel functions are used to map original data points into a higher-dimensional (possibly infinite-dimensional) feature space defined by a (usually nonlinear) function ϕ through a mathematical process called the kernel trick. This paper also presents a comparative study for classification using K-FIS along with support vector machine (SVM) for different set of features (genes). Performance parameters available in the literature such as precision, recall, specificity, F-measure, ROC curve, and accuracy are considered to analyze the efficiency of the classification model. From the proposed approach, it is apparent that K-FIS model obtains similar results when compared with SVM model. This is an indication that the proposed approach relies on kernel function. PMID:27433543

  9. Methods and potentials for using satellite image classification in school lessons

    NASA Astrophysics Data System (ADS)

    Voss, Kerstin; Goetzke, Roland; Hodam, Henryk

    2011-11-01

    The FIS project - FIS stands for Fernerkundung in Schulen (Remote Sensing in Schools) - aims at a better integration of the topic "satellite remote sensing" in school lessons. According to this, the overarching objective is to teach pupils basic knowledge and fields of application of remote sensing. Despite the growing significance of digital geomedia, the topic "remote sensing" is not broadly supported in schools. Often, the topic is reduced to a short reflection on satellite images and used only for additional illustration of issues relevant for the curriculum. Without addressing the issue of image data, this can hardly contribute to the improvement of the pupils' methodical competences. Because remote sensing covers more than simple, visual interpretation of satellite images, it is necessary to integrate remote sensing methods like preprocessing, classification and change detection. Dealing with these topics often fails because of confusing background information and the lack of easy-to-use software. Based on these insights, the FIS project created different simple analysis tools for remote sensing in school lessons, which enable teachers as well as pupils to be introduced to the topic in a structured way. This functionality as well as the fields of application of these analysis tools will be presented in detail with the help of three different classification tools for satellite image classification.

  10. The effect of CT technical factors on quantification of lung fissure integrity

    NASA Astrophysics Data System (ADS)

    Chong, D.; Brown, M. S.; Ochs, R.; Abtin, F.; Brown, M.; Ordookhani, A.; Shaw, G.; Kim, H. J.; Gjertson, D.; Goldin, J. G.

    2009-02-01

    A new emphysema treatment uses endobronchial valves to perform lobar volume reduction. The degree of fissure completeness may predict treatment efficacy. This study investigated the behavior of a semiautomated algorithm for quantifying lung fissure integrity in CT with respect to reconstruction kernel and dose. Raw CT data was obtained for six asymptomatic patients from a high-risk population for lung cancer. The patients were scanned on either a Siemens Sensation 16 or 64, using a low-dose protocol of 120 kVp, 25 mAs. Images were reconstructed using kernels ranging from smooth to sharp (B10f, B30f, B50f, B70f). Research software was used to simulate an even lower-dose acquisition of 15 mAs, and images were generated at the same kernels resulting in 8 series per patient. The left major fissure was manually contoured axially at regular intervals, yielding 37 contours across all patients. These contours were read into an image analysis and pattern classification system which computed a Fissure Integrity Score (FIS) for each kernel and dose. FIS values were analyzed using a mixed-effects model with kernel and dose as fixed effects and patient as random effect to test for difference due to kernel and dose. Analysis revealed no difference in FIS between the smooth kernels (B10f, B30f) nor between sharp kernels (B50f, B70f), but there was a significant difference between the sharp and smooth groups (p = 0.020). There was no significant difference in FIS between the two low-dose reconstructions (p = 0.882). Using a cutoff of 90%, the number of incomplete fissures increased from 5 to 10 when the imaging protocol changed from B50f to B30f. Reconstruction kernel has a significant effect on quantification of fissure integrity in CT. This has potential implications when selecting patients for endobronchial valve therapy.

  11. Innovative use of global navigation satellite systems for flight inspection

    NASA Astrophysics Data System (ADS)

    Kim, Eui-Ho

    The International Civil Aviation Organization (ICAO) mandates flight inspection in every country to provide safety during flight operations. Among many criteria of flight inspection, airborne inspection of Instrument Landing Systems (ILS) is very important because the ILS is the primary landing guidance system worldwide. During flight inspection of the ILS, accuracy in ILS landing guidance is checked by using a Flight Inspection System (FIS). Therefore, a flight inspection system must have high accuracy in its positioning capability to detect any deviation so that accurate guidance of the ILS can be maintained. Currently, there are two Automated Flight Inspection Systems (AFIS). One is called Inertial-based AFIS, and the other one is called Differential GPS-based (DGPS-based) AFIS. The Inertial-based AFIS enables efficient flight inspection procedures, but its drawback is high cost because it requires a navigation-grade Inertial Navigation System (INS). On the other hand, the DGPS-based AFIS has relatively low cost, but flight inspection procedures require landing and setting up a reference receiver. Most countries use either one of the systems based on their own preferences. There are around 1200 ILS in the U.S., and each ILS must be inspected every 6 to 9 months. Therefore, it is important to manage the airborne inspection of the ILS in a very efficient manner. For this reason, the Federal Aviation Administration (FAA) mainly uses the Inertial-based AFIS, which has better efficiency than the DGPS-based AFIS in spite of its high cost. Obviously, the FAA spends tremendous resources on flight inspection. This thesis investigates the value of GPS and the FAA's augmentation to GPS for civil aviation called the Wide Area Augmentation System (or WAAS) for flight inspection. Because standard GPS or WAAS position outputs cannot meet the required accuracy for flight inspection, in this thesis, various algorithms are developed to improve the positioning ability of Flight Inspection Systems (FIS) by using GPS and WAAS in novel manners. The algorithms include Adaptive Carrier Smoothing (ACS), optimizing WAAS accuracy and stability, and reference point-based precise relative positioning for real-time and near-real-time applications. The developed systems are WAAS-aided FIS, WAAS-based FIS, and stand-alone GPS-based FIS. These systems offer both high efficiency and low cost, and they have different advantages over one another in terms of accuracy, integrity, and worldwide availability. The performance of each system is tested with experimental flight test data and shown to have accuracy that is sufficient for flight inspection and superior to the current Inertial-based AFIS.

  12. Odour-based kin discrimination in the cooperatively breeding meerkat.

    PubMed

    Leclaire, Sarah; Nielsen, Johanna F; Thavarajah, Nathan K; Manser, Marta; Clutton-Brock, Tim H

    2013-02-23

    Kin recognition is a useful ability for animals, facilitating cooperation among relatives and avoidance of excessive kin competition or inbreeding. In meerkats, Suricata suricatta, encounters between unfamiliar kin are relatively frequent, and kin recognition by phenotype matching is expected to avoid inbreeding with close relatives. Here, we investigate whether female meerkats are able to discriminate the scent of unfamiliar kin from unfamiliar non-kin. Dominant females were presented with anal gland secretion from unfamiliar individuals that varied in their relatedness. Our result indicates that females spent more time investigating the scent of related than unrelated unfamiliar individuals, suggesting that females may use a phenotype matching mechanism (or recognition alleles) to discriminate the odour of their kin from the odour of their non-kin. Our study provides a key starting point for further investigations into the use of kin recognition for inbreeding avoidance in the widely studied meerkat.

  13. Inbreeding effects on fertility in humans: evidence for reproductive compensation.

    PubMed Central

    Ober, C; Hyslop, T; Hauck, W W

    1999-01-01

    The effects of inbreeding on prereproductive mortality have been demonstrated in many natural populations, including humans. However, little is known about the effects in inbred individuals who survive to adulthood. We have investigated the effects of inbreeding on fertility among inbred adult Hutterites and demonstrate significantly reduced fecundity among the most inbred Hutterite women, as evidenced by longer interbirth intervals (P=.024) and longer intervals to a recognized pregnancy (P=.010) but not by increased rates of fetal loss (P>.50). These data suggest the presence of recessive alleles that adversely affect fecundity among the population. In contrast, completed family sizes do not differ among the more and the less-inbred Hutterite women who were born after 1920, suggesting that reproductive compensation is occurring among the more-inbred and less-fecund women. This recent reproductive strategy would facilitate the maintenance of recessive alleles and contribute to an overall decline in fertility in the population. PMID:9915962

  14. Glass Effect in Inbreeding-Avoidance Systems: Minimum Viable Population for Outbreeders

    NASA Astrophysics Data System (ADS)

    Tainaka, Kei-ichi; Itoh, Yoshiaki

    1996-10-01

    Many animals, birds and plants have evolved mechanisms to avoid inbreeding between close relatives.Such mating systems may have developed several methods for restricting mate choice.If fragmentation of habitats becomes serious, these methods may lead to a lack of acceptable mates. We call this “glass effect”which is a generalization of the so-called Allee effect.We present two inbreeding-avoidance (outbreeding) models.Both models show that outbreeders have a high risk infragmented environments.We thus obtain the minimum viable population (MVP). It is found that the value of MVP amounts to the range from several hundred to several thousand individuals.While this value is much larger than thoseobtained by the previous demographic theories,it is consistent with recent empirical estimations.Moreover, we find that the glass effect is caused bydynamically induced clusters of relatives.This suggests that genetic variation will be decreased by the outbreeding in a highly fragmented environment.

  15. Optimal level of inbreeding in the common lizard.

    PubMed

    Richard, M; Losdat, S; Lecomte, J; de Fraipont, M; Clobert, J

    2009-08-07

    Mate choice with regard to genetic similarity has been rarely considered as a dynamic process. We examined this possibility in breeding populations of the common lizard (Lacerta vivipara) kept for several years in semi-natural conditions. We investigated whether they displayed a pattern of mate choice according to the genetic similarity and whether it was context-dependent. Mate choice depended on genetic similarity with the partner and also on age and condition. There was no systematic avoidance of inbreeding. Females of intermediate ages, more monogamous, did not mate with genetically similar partners, whereas younger and older females, more polyandrous, did but highest clutch proportions were associated with intermediate values of pair-relatedness. These results indicate dynamic mate choice, suggesting that individuals of different phenotypes select their partners in different ways according to their genetic similarity. We consider our results in the light of diverse and apparently contradictory theories concerning genetic compatibility, and particularly, optimal inbreeding and inclusive fitness.

  16. Management of food industry waste employing vermicomposting technology.

    PubMed

    Garg, V K; Suthar, S; Yadav, Anoop

    2012-12-01

    This paper reports the vermicomposting of food industry sludges (FIS) mixed with different organic wastes employing Eisenia fetida. A total of 10 vermicomposting units containing different wastes combinations were established. After 15 weeks significant increase in total nitrogen (N(total)) (60-214%), total available phosphorous (P(avail)) (35.8-69.6%), total sodium (Na(total)) (39-95%), and total potassium (K(total)) (43.7-74.1%), while decrease in pH (8.45-19.7%), total organic carbon (OC(total)) (28.4-36.1%) and C:N ratio (61.2-77.8%) was recorded. The results indicated that FIS may be converted into good quality manure by vermicomposting if spiked with other organic wastes in appropriate quantities. Copyright © 2011 Elsevier Ltd. All rights reserved.

  17. Genome-wide comparisons reveal a clinal species pattern within a holobenthic octopod-the Australian Southern blue-ringed octopus, Hapalochlaena maculosa (Cephalopoda: Octopodidae).

    PubMed

    Morse, Peter; Kjeldsen, Shannon R; Meekan, Mark G; Mccormick, Mark I; Finn, Julian K; Huffard, Christine L; Zenger, Kyall R

    2018-02-01

    The southern blue-ringed octopus, Hapalochlaena maculosa (Hoyle, 1883) lacks a planktonic dispersal phase, yet ranges across Australia's southern coastline. This species' brief and holobenthic life history suggests gene flow might be limited, leaving distant populations prone to strong genetic divergence. This study used 17,523 genome-wide SNP loci to investigate genetic structuring and local adaptation patterns of H. maculosa among eight sampling sites along its reported range. Within sites, interrelatedness was very high, consistent with the limited dispersal of this taxon. However, inbreeding coefficients were proportionally lower among sites where substructuring was not detected, suggesting H. maculosa might possess a mechanism for inbreeding avoidance. Genetic divergence was extremely high among all sites, with the greatest divergence observed between both ends of the distribution, Fremantle, WA, and Stanley, TAS. Genetic distances closely followed an isolation by geographic distance pattern. Outlier analyses revealed distinct selection signatures at all sites, with the strongest divergence reported between Fremantle and the other Western Australian sites. Phylogenetic reconstructions using the described sister taxon H. fasciata (Hoyle, 1886) further supported that the genetic divergence between distal H. maculosa sites in this study was equivalent to that of between established heterospecifics within this genus. However, it is advocated that taxonomic delineations within this species should be made with caution. These data indicate that H. maculosa forms a clinal species pattern across its geographic range, with gene flow present through allele sharing between adjacent populations. Morphological investigations are recommended for a robust resolution of the taxonomic identity and ecotype boundaries of this species.

  18. Unexpected Relationships and Inbreeding in HapMap Phase III Populations

    PubMed Central

    Stevens, Eric L.; Baugher, Joseph D.; Shirley, Matthew D.; Frelin, Laurence P.; Pevsner, Jonathan

    2012-01-01

    Correct annotation of the genetic relationships between samples is essential for population genomic studies, which could be biased by errors or omissions. To this end, we used identity-by-state (IBS) and identity-by-descent (IBD) methods to assess genetic relatedness of individuals within HapMap phase III data. We analyzed data from 1,397 individuals across 11 ethnic populations. Our results support previous studies (Pemberton et al., 2010; Kyriazopoulou-Panagiotopoulou et al., 2011) assessing unknown relatedness present within this population. Additionally, we present evidence for 1,657 novel pairwise relationships across 9 populations. Surprisingly, significant Cotterman's coefficients of relatedness K1 (IBD1) values were detected between pairs of known parents. Furthermore, significant K2 (IBD2) values were detected in 32 previously annotated parent-child relationships. Consistent with a hypothesis of inbreeding, regions of homozygosity (ROH) were identified in the offspring of related parents, of which a subset overlapped those reported in previous studies (Gibson et al. 2010; Johnson et al. 2011). In total, we inferred 28 inbred individuals with ROH that overlapped areas of relatedness between the parents and/or IBD2 sharing at a different genomic locus between a child and a parent. Finally, 8 previously annotated parent-child relationships had unexpected K0 (IBD0) values (resulting from a chromosomal abnormality or genotype error), and 10 previously annotated second-degree relationships along with 38 other novel pairwise relationships had unexpected IBD2 (indicating two separate paths of recent ancestry). These newly described types of relatedness may impact the outcome of previous studies and should inform the design of future studies relying on the HapMap Phase III resource. PMID:23185369

  19. Molecular diversity of Pakistani mango (Mangifera indica L.) varieties based on microsatellite markers.

    PubMed

    Nazish, T; Shabbir, G; Ali, A; Sami-Ul-Allah, S; Naeem, M; Javed, M; Batool, S; Arshad, H; Hussain, S B; Aslam, K; Seher, R; Tahir, M; Baber, M

    2017-04-05

    Understanding the genetic diversity of different Pakistani mango varieties is important for germplasm management and varietal characterization. Microsatellites are efficient and highly polymorphic markers for comparative genome mapping, and were used in the present study to determine the genetic relatedness and variability among 15 indigenous mango cultivars (Mangifera indica L.). Overall, 181 bands were produced using 12 simple sequence repeat (SSR) primers. Out of the 12 primers used, 10 were polymorphic and two were monomorphic. Genetic relatedness among cultivars was assessed by constructing a dendrogram using the unweighted pair group method of arithmetic means. The accessions exhibited coefficients of similarity ranging from 75 to 100%, indicating the frequent use of only a few parent cultivars and the presence of inbreeding. The primers used in the present study were found to be valuable for identifying genetic relationships among mango cultivars.

  20. Early breakdown of isolation revealed by marriage behaviour in a Ladin-speaking community (Gardena Valley, South Tyrol, Italy, 1825-1924).

    PubMed

    Gueresi, Paola

    2012-05-01

    The aim of this study was to investigate marriage behaviour from 1825 to 1924 in an Alpine valley inhabited by Ladin speakers (Gardena Valley, South Tyrol, Italy), where the particular geographic, linguistic and economic characteristics may have influenced the level of reproductive isolation. A total of 2183 marriage acts from the two main parishes of Santa Cristina and Ortisei were examined. Birth and residence endogamy, inbreeding coefficients from dispensations and from isonymy, birth place distribution of the spouses and isonymic relationships were analysed in four 25-year sub-periods. All the indicators considered point to a lower level of reproductive isolation at Ortisei, a main centre for the woodcarving industry, which appeared to be experiencing an early and effective breakdown of isolation. Marriage behaviour in the Gardena Valley between 1825 and 1924 seems to have been mostly influenced by socioeconomic factors rather than linguistic and cultural ones.

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