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Sample records for male phenotype xy

  1. Sex Genotype and Sex Phenotype Contribute to Growth Differences Between Male and Female Channel Catfish

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Channel catfish have an XX:XY genotypic system of sex determination, and until the present study, the influence of sex genotype on growth could not be distinguished from sex phenotype. Genotypic male fish (XY) were produced by mating normal (XX) female fish with YY male fish. A subsample from eac...

  2. Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.

    PubMed

    Camats, Núria; Fernández-Cancio, Mónica; Audí, Laura; Mullis, Primus E; Moreno, Francisca; González Casado, Isabel; López-Siguero, Juan Pedro; Corripio, Raquel; Bermúdez de la Vega, José Antonio; Blanco, José Antonio; Flück, Christa E

    2015-01-01

    MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction. Our aim was to search for MAMLD1 variations in 108 46,XY patients with disordered sex development, and to test them functionally. We detected MAMDL1 variations and compared SNP frequencies in controls and patients. We tested MAMLD1 transcriptional activity on promoters involved in sex development and assessed the effect of MAMLD1 on androgen production. MAMLD1 expression in normal steroid-producing tissues and mutant MAMLD1 protein expression were also assessed. Nine MAMLD1 mutations (7 novel) were characterized. In vitro, most MAMLD1 variants acted similarly to wild type. Only the L210X mutation showed loss of function in all tests. We detected no effect of wild-type or MAMLD1 variants on CYP17A1 enzyme activity in our cell experiments, and Western blots revealed no significant differences for MAMLD1 protein expression. MAMLD1 was expressed in human adult testes and adrenals. In conclusion, our data support the notion that MAMLD1 sequence variations may not suffice to explain the phenotype in carriers and that MAMLD1 may also have a role in adult life. PMID:26580071

  3. Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype

    PubMed Central

    Audí, Laura; Mullis, Primus E.; Moreno, Francisca; González Casado, Isabel; López-Siguero, Juan Pedro; Corripio, Raquel; Bermúdez de la Vega, José Antonio; Blanco, José Antonio; Flück, Christa E.

    2015-01-01

    MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction. Our aim was to search for MAMLD1 variations in 108 46,XY patients with disordered sex development, and to test them functionally. We detected MAMDL1 variations and compared SNP frequencies in controls and patients. We tested MAMLD1 transcriptional activity on promoters involved in sex development and assessed the effect of MAMLD1 on androgen production. MAMLD1 expression in normal steroid-producing tissues and mutant MAMLD1 protein expression were also assessed. Nine MAMLD1 mutations (7 novel) were characterized. In vitro, most MAMLD1 variants acted similarly to wild type. Only the L210X mutation showed loss of function in all tests. We detected no effect of wild-type or MAMLD1 variants on CYP17A1 enzyme activity in our cell experiments, and Western blots revealed no significant differences for MAMLD1 protein expression. MAMLD1 was expressed in human adult testes and adrenals. In conclusion, our data support the notion that MAMLD1 sequence variations may not suffice to explain the phenotype in carriers and that MAMLD1 may also have a role in adult life. PMID:26580071

  4. Comparative study of the reproductive characteristics of XY male and hormonally sex-reversed XX male Eurasian perch, Perca fluviatilis.

    PubMed

    Rougeot, Carole; Nicayenzi, Félix; Mandiki, S N M; Rurangwa, Eugène; Kestemont, Patrick; Mélard, Charles

    2004-09-01

    In order to compare the reproductive capacity of XY male versus XX male (neomales) Eurasian perch (Perca fluviatilis), we determined the sperm quality (sperm concentration and motility) and reproductive characteristics such as gonadosomatic index (GSI), fertilization rate and sex steroid levels (testosterone, T; 17beta-estradiol, E2 and 11-ketotestosterone, 11KT) during the reproductive season. Median GSI was not significantly different between XY males (7.9%) and XX males (7.5%). Fertilization rates ranged between 30.0 and 98.0%. Sperm concentration ranged between 27.9 x 10(9) and 42.0 x 10(9) spermatozoa ml(-1). Median level of T, 11KT and E2 levels increased in the middle of the reproductive season (2136.0, 2409.0 and 3252.0 pg ml(-1), respectively) and decreased at the end (1657.0, 2006.6 and 431.0 pg ml(-1), respectively). Sperm motility was assessed by CASA and expressed by the curvilinear velocity (VCL), straight line velocity (VSL), average path velocity (VAP), linearity (LIN), percentage of motile sperm (% MOT) and motile concentration (MOC). Overall, there were not any significant differences between XY and XX males. In conclusion, no differences of reproductive capacities were observed between XY males and XX males suggesting that the last can be crossed with females to improve the productivity of Eurasian perch by producing all-female stock. PMID:15251230

  5. Effects of polyandry on male phenotypic diversity.

    PubMed

    Barbosa, M; Dornelas, M; Magurran, A E

    2010-11-01

    Polyandry has the potential to affect the distribution of phenotypes and to shape the direction of sexual selection. Here, we explore this potential using Trinidadian guppies as a model system and ask whether polyandry leads to directional and/or diversifying selection of male phenotypic traits. In this study, we compare the phenotypic diversity of offspring from multiply and singly sired broods. To quantify phenotypic diversity, we first combine phenotypic traits using multivariate methods, and then take the dispersion of individuals in multivariate space as our measure of diversity. We show that, when each trait is examined separately, polyandry generates offspring with a higher proportion of bright coloration, indicating directional selection. However, our multivariate approach reveals that this directionality is accompanied by an increase in phenotypic diversity. These results suggest that polyandry (i) selects for the production of sons with the preferred brighter colour phenotypes whereas (ii) enhancing the diversity of male sexual traits. Promoting phenotypic diversity may be advantageous in coping with environmental and reproductive variability by increasing long-term fitness. PMID:20874847

  6. Sperm quality analysis in XX, XY and YY males of the Nile tilapia (Oreochromis niloticus).

    PubMed

    Gennotte, V; François, E; Rougeot, C; Ponthier, J; Deleuze, S; Mélard, C

    2012-07-01

    In Nile tilapia (Oreochromis niloticus), individuals with atypical sexual genotype are commonly used in farming (use of YY males to produce all-male offspring), but they also constitute major tools to study sex determinism mechanisms. In other species, sexual genotype and sex reversal procedures affect different aspects of biology, such as growth, behavior and reproductive success. The aim of this study was to assess the influence of sexual genotype on sperm quality in Nile tilapia. Milt characteristics were compared in XX (sex-reversed), XY and YY males in terms of gonadosomatic index, sperm count, sperm motility and duration of sperm motility. Sperm motility was measured by computer-assisted sperm analysis (CASA) quantifying several parameters: total motility, progressive motility, curvilinear velocity, straight line velocity, average path velocity and linearity. None of the sperm traits measured significantly differed between the three genotypes. Mean values of gonadosomatic index, sperm concentration and sperm motility duration of XX, XY and YY males, respectively ranged from 0.92 to 1.33%, from 1.69 to 2.22 ×10(9) cells mL(-1) and from 18'04? to 27'32?. Mean values of total motility and curvilinear velocity 1 min after sperm activation, respectively ranged from 53 to 58% and from 71 to 76 ?m s(-1) for the three genotypes. After 3 min of activity, all the sperm motility and velocity parameters dropped by half and continued to slowly decrease thereafter. Seven min after activation, only 9 to 13% of spermatozoa were still progressive. Our results prove that neither sexual genotype nor hormonal sex reversal treatments affect sperm quality in male Nile tilapias with atypical sexual genotype. PMID:22494673

  7. Trisomy 8 syndrome. A psychological and somatic study of a mentally non-retarded male with 46,XY/47,XY,+8 chromosome constitution.

    PubMed

    Theilgaard, A; Lundsteen, C; Parving, H H; Philip, J

    1977-10-01

    A 27-year-old, non-retarded male with trisomy 8 mosaicism (46,XY/47,XY,+8) had a short head, a short broad-bridged nose, a protruding upper lip, pterygium colli, moderate kypho-scoliosis, camptodactyly of all fingers and deep furrowing on the soles. Radiographic examination of columna showed spina bifida of L1 and fusion of L5 and S1. These findings are characteristic for the trisomy 8 syndrome. A psychological study showed a personality characterized by immaturity and lack of spontaneity and self-confidence. An intelligence test (WAIS) placed him within the normal range, but presented an uneven development of the cognitive functions with special difficulties in synthetic abilities and visual scanning. His auditive span was rather low, and his memory functions were somewhat below average. PMID:912939

  8. Testicular disorder of sex development in four cats with a male karyotype (38,XY; SRY-positive).

    PubMed

    Nowacka-Woszuk, Joanna; Szczerbal, Izabela; Salamon, Sylwia; Kociucka, Beata; Jackowiak, Hanna; Prozorowska, Ewelina; Slaska, Brygida; Rozanska, Dorota; Orzelski, Maciej; Ochota, Malgorzata; Dzimira, Stanislaw; Lipiec, Magdalena; Nizanski, Wojciech; Switonski, Marek

    2014-12-10

    The molecular background of disorders of sex development (DSD) in cats is poorly recognized. In this study we present cytogenetic, molecular and histological analyses of four cats subjected for the analysis due to ambiguous external genitalia. Three cases, with rudimentary penises and an abnormal position of the urethral orifice, represented different types of hypospadias. The fourth case had a normal penis, a blind vulva and spermatogenetically active testes. Histological studies showed structures typical of testes, but spermatogenic activity was observed in two cats only. All the cats had a normal male chromosome complement (38,XY) and the Y-chromosome linked genes (SRY and ZFY) were also detected. Fluorescent in situ hybridization (FISH), with the use of the feline BAC probe harboring the SRY gene, excluded the possibility of chromosome translocation of the Y chromosome fragment carrying the SRY gene onto another chromosome. Sequencing of four candidate genes (SRY--sex determining region Y; AR--androgen receptor; SRD5A2--steroid-5-alfa reductase 2 and MAMLD1--mastermind-like domain containing (1) revealed one SNP in the SRY gene, one common polymorphism in exon 1 of the AR gene (tandem repeat of a tri-nucleotide motif--CAG), six polymorphisms (5 SNPs and 1 indel) in the SRD5A2 gene and one SNP in the MAMLD1 gene. Molecular studies of the candidate genes showed no association with the identified polymorphisms, thus molecular background of the studied DSD phenotypes remains unknown. PMID:25455261

  9. Sperm head phenotype and male fertility in ram semen.

    PubMed

    Maroto-Morales, A; Ramón, M; García-Álvarez, O; Montoro, V; Soler, A J; Fernández-Santos, M R; Roldan, E R S; Pérez-Guzmán, M D; Garde, J J

    2015-12-01

    Although there is ample evidence for the effects of sperm head shape on sperm function, its impact on fertility has not been explored in detail at the intraspecific level in mammals. Here, we assess the relationship between sperm head shape and male fertility in a large-scale study in Manchega sheep (Ovis aries), which have not undergone any selection for fertility. Semen was collected from 83 mature rams, and before insemination, head shapes were measured for five parameters: area, perimeter, length, width, and p2a (perimeter(2)/2×?×area) using a computer-assisted sperm morphometric analysis. In addition, a cluster analysis using sperm head length and p2a factor was performed to determine sperm subpopulations (SPs) structure. Our results show the existence of four sperm SPs, which present different sperm head phenotype: SP1 (large and round), SP2 (short and elongated), SP3 (shortest and round), and SP4 (large and the most elongated). No relationships were found between males' fertility rates and average values of sperm head dimensions. However, differences in fertility rates between rams were strongly associated to the proportion of spermatozoa in an ejaculate SP with short and elongated heads (P < 0.001). These findings show how the heterogeneity in sperm head shape of the ejaculate has an effect on reproductive success, and highlight the important role of modulation of the ejaculate at the intraspecific level. PMID:26318229

  10. A case of SRY-positive 38,XY true hermaphroditism (XY sex reversal) in a cat.

    PubMed

    Schlafer, D H; Valentine, B; Fahnestock, G; Froenicke, L; Grahn, R A; Lyons, L A; Meyers-Wallen, V N

    2011-07-01

    Investigation of abnormal sexual development in companion animals can allow for the elimination of inherited disorders from breeding populations while contributing to the understanding of the complex process of mammalian sexual development and differentiation. A 1-year-old mixed-breed cat, presented for neutering, was tentatively diagnosed as a male with bilateral cryptorchidism. During surgery, the surgeon identified gonads in an ovarian position and a complete bicornuate uterus. Both testicular and ovarian architecture in the gonads and Mullerian and Wolffian duct derivatives were identified histologically. The karyotype was that of a normal male (38,XY), and no causative mutation was identified in the feline SRY coding sequence amplified from genomic DNA. All features of the case were compatible with a diagnosis of SRY-positive 38,XY sex reversal, true hermaphrodite phenotype. To the authors' knowledge, this is the first report of this disorder in a domestic cat. PMID:20861501

  11. A Case of SRY-Positive 38,XY True Hermaphroditism (XY Sex Reversal) in a Cat

    PubMed Central

    Schlafer, D. H.; Valentine, B.; Fahnestock, G.; Froenicke, L.; Grahn, R. A.; Lyons, L. A.; Meyers-Wallen, V. N.

    2012-01-01

    Investigation of abnormal sexual development in companion animals can allow for the elimination of inherited disorders from breeding populations while contributing to the understanding of the complex process of mammalian sexual development and differentiation. A 1-year-old mixed-breed cat, presented for neutering, was tentatively diagnosed as a male with bilateral cryptorchidism. During surgery, the surgeon identified gonads in an ovarian position and a complete bicornuate uterus. Both testicular and ovarian architecture in the gonads and Mullerian and Wolffian duct derivatives were identified histologically. The karyotype was that of a normal male (38,XY), and no causative mutation was identified in the feline SRY coding sequence amplified from genomic DNA. All features of the case were compatible with a diagnosis of SRY-positive 38,XY sex reversal, true hermaphrodite phenotype. To the authors’ knowledge, this is the first report of this disorder in a domestic cat. PMID:20861501

  12. Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation

    ERIC Educational Resources Information Center

    Clifford, Sally; Dissanayake, Cheryl; Bui, Quang M.; Huggins, Richard; Taylor, Annette K.; Loesch, Danuta Z.

    2007-01-01

    The behavioural phenotype of autism was assessed in individuals with full mutation and premutation fragile X syndrome (FXS) using the Autism Diagnostic Observation Scale-Generic (ADOS-G) and the Autism Diagnostic Interview (ADI-R). The participants, aged 5-80 years, comprised 33 males and 31 females with full mutation, 7 males and 43 females with…

  13. Subtractive and differential hybridization molecular analyses of Ceratitis capitata XX/XY versus XX embryos to search for male-specific early transcribed genes

    PubMed Central

    2014-01-01

    The agricultural pest Ceratitis capitata, also known as the Mediterranean fruit fly or Medfly, is a fruit crop pest of very high economic relevance in different continents. The strategy to separate Ceratitis males from females (sexing) in mass rearing facilities is a useful step before the sterilization and release of male-only flies in Sterile Insect Technique control programs (SIT). The identification of genes having early embryonic male-specific expression, including Y-linked genes, such as the Maleness factor, could help to design novel and improved methods of sexing in combination with transgenesis, aiming to confer conditional female-specific lethality or female-to-male sexual reversal. We used a combination of Suppression Subtractive Hybrydization (SSH), Mirror Orientation Selection (MOS) and differential screening hybridization (DSH) techniques to approach the problem of isolating corresponding mRNAs expressed in XX/XY embryos versus XX-only embryos during a narrow developmental window (8-10 hours after egg laying, AEL ). Here we describe a novel strategy we have conceived to obtain relatively large amounts of XX-only embryos staged at 8-10 h AEL and so to extract few micrograms of polyA+ required to apply the complex technical procedure. The combination of these 3 techniques led to the identification of a Y-linked putative gene, CcGm2, sharing high sequence identity to a paralogous gene, CcGm1, localized either on an autosome or on the X chromosome. We propose that CcGm2 is a first interesting putative Y-linked gene which could play a role in sex determination. The function exterted by this gene should be investigated by novel genetic tools, such as CRISPR-CAS9, which will permit to target only the Y-linked paralogue, avoiding to interfere with the autosomal or X-linked paralogue function. PMID:25472628

  14. Subtractive and differential hybridization molecular analyses of Ceratitis capitata XX/XY versus XX embryos to search for male-specific early transcribed genes.

    PubMed

    Salvemini, Marco; D'Amato, Rocco; Petrella, Valeria; Ippolito, Domenica; Ventre, Giuseppe; Zhang, Ying; Saccone, Giuseppe

    2014-01-01

    The agricultural pest Ceratitis capitata, also known as the Mediterranean fruit fly or Medfly, is a fruit crop pest of very high economic relevance in different continents. The strategy to separate Ceratitis males from females (sexing) in mass rearing facilities is a useful step before the sterilization and release of male-only flies in Sterile Insect Technique control programs (SIT). The identification of genes having early embryonic male-specific expression, including Y-linked genes, such as the Maleness factor, could help to design novel and improved methods of sexing in combination with transgenesis, aiming to confer conditional female-specific lethality or female-to-male sexual reversal. We used a combination of Suppression Subtractive Hybrydization (SSH), Mirror Orientation Selection (MOS) anddifferential screening hybridization (DSH) techniques to approach the problem of isolating corresponding mRNAs expressed in XX/XY embryos versus XX-only embryos during a narrow developmental window (8-10 hours after egg laying, AEL ). Here we describe a novel strategy we have conceived to obtain relatively large amounts of XX-only embryos staged at 8-10 h AEL and so to extract few micrograms of polyA+ required to apply the complex technical procedure. The combination of these 3 techniques led to the identification of a Y-linked putative gene, CcGm2, sharing high sequence identity to a paralogous gene, CcGm1, localized either on an autosome or on the X chromosome. We propose that CcGm2 is a first interesting putative Y-linked gene which could play a role in sex determination. The function exterted by this gene should be investigated by novel genetic tools, such as CRISPR-CAS9, which will permit to target only the Y-linked paralogue, avoiding to interfere with the autosomal or X-linked paralogue function. PMID:25472628

  15. Autism spectrum phenotype in males and females with fragile X full mutation and premutation.

    PubMed

    Clifford, Sally; Dissanayake, Cheryl; Bui, Quang M; Huggins, Richard; Taylor, Annette K; Loesch, Danuta Z

    2007-04-01

    The behavioural phenotype of autism was assessed in individuals with full mutation and premutation fragile X syndrome (FXS) using the Autism Diagnostic Observation Scale-Generic (ADOS-G) and the Autism Diagnostic Interview (ADI-R). The participants, aged 5-80 years, comprised 33 males and 31 females with full mutation, 7 males and 43 females with premutation, and 38 non-fragile X relatives (29 males, 9 females). In the full mutation group, a total of 67% males and 23% females met either the Autism Disorder (AD) or the Autism Spectrum Disorder (ASD) criteria on at least one of the diagnostic tests. In the premutation group, 14% males and 5% females met the ADOS-G criteria for ASD. The presence of autism manifestations in males and females with full mutation and premutation provide support for a spectrum view. PMID:17031449

  16. Hemiclonal analysis of interacting phenotypes in male and female Drosophila melanogaster

    PubMed Central

    2014-01-01

    Background Identifying the sources of variation in mating interactions between males and females is important because this variation influences the strength and/or the direction of sexual selection that populations experience. While the origins and effects of variation in male attractiveness and ornamentation have received much scrutiny, the causes and consequences of intraspecific variation in females have been relatively overlooked. We used cytogenetic cloning techniques developed for Drosophila melanogaster to create “hemiclonal” males and females with whom we directly observed sexual interaction between individuals of different known genetic backgrounds and measured subsequent reproductive outcomes. Using this approach, we were able to quantify the genetic contribution of each mate to the observed phenotypic variation in biologically important traits including mating speed, copulation duration, and subsequent offspring production, as well as measure the magnitude and direction of intersexual genetic correlation between female choosiness and male attractiveness. Results We found significant additive genetic variation contributing to mating speed that can be attributed to male genetic identity, female genetic identity, but not their interaction. Furthermore we found that phenotypic variation in copulation duration had a significant male-associated genetic component. Female genetic identity and the interaction between male and female genetic identity accounted for a substantial amount of the observed phenotypic variation in egg size. Although previous research predicts a trade-off between egg size and fecundity, this was not evident in our results. We found a strong negative genetic correlation between female choosiness and male attractiveness, a result that suggests a potentially important role for sexually antagonistic alleles in sexual selection processes in our population. Conclusion These results further our understanding of sexual selection because they identify that genetic identity plays a significant role in phenotypic variation in female behaviour and fecundity. This variation may be potentially due to ongoing sexual conflict found between the sexes for interacting phenotypes. Our unexpected observation of a negative correlation between female choosiness and male attractiveness highlights the need for more explicit theoretical models of genetic covariance to investigate the coevolution of female choosiness and male attractiveness. PMID:24884361

  17. Phenotypic correlates of male reproductive success in western gorillas Thomas Breuer a,b,*, Andrew M. Robbins a

    E-print Network

    Phenotypic correlates of male reproductive success in western gorillas Thomas Breuer a,b,*, Andrew gorillas. Among 19 adult male gorillas monitored for up to 12.5 years, we found that all three phenotypic selection in gorillas and other species. Ó 2012 Elsevier Ltd. All rights reserved. Introduction Sexual

  18. FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

    PubMed

    Bagheri-Fam, Stefan; Ono, Makoto; Li, Li; Zhao, Liang; Ryan, Janelle; Lai, Raymond; Katsura, Yukako; Rossello, Fernando J; Koopman, Peter; Scherer, Gerd; Bartsch, Oliver; Eswarakumar, Jacob V P; Harley, Vincent R

    2015-12-01

    Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutation, c.1025G>C (p.Cys342Ser). Substitution of Cys342 by Ser or other amino acids (Arg/Phe/Try/Tyr) has been previously reported in Crouzon and Pfeiffer syndrome. We show that the 'knock-in' Crouzon mouse model Fgfr2c(C342Y/C342Y) carrying a Cys342Tyr substitution displays XY gonadal sex reversal with variable expressivity. We also show that despite FGFR2c-Cys342Tyr being widely considered a gain-of-function mutation, Cys342Tyr substitution in the gonad leads to loss of function, as demonstrated by sex reversal in Fgfr2c(C342Y/-) mice carrying the knock-in allele on a null background. The rarity of our patient suggests the influence of modifier genes which exacerbated the testicular phenotype. Indeed, patient whole exome analysis revealed several potential modifiers expressed in Sertoli cells at the time of testis determination in mice. In summary, this study identifies the first FGFR2 mutation in a 46,XY GD patient. We conclude that, in certain rare genetic contexts, maintaining normal levels of FGFR2 signaling is important for human testis determination. PMID:26362256

  19. Aberrant chromosomal sex-determining mechanisms in mammals, with special reference to species with XY females.

    PubMed

    Fredga, K

    1988-12-01

    Both mouse and man have the common XX/XY sex chromosome mechanism. The X chromosome is of original size (5-6% of female haploid set) and the Y is one of the smallest chromosomes of the complement. But there are species, belonging to a variety of orders, with composite sex chromosomes and multiple sex chromosome systems: XX/XY1Y2 and X1X1X2X2/X1X2Y. The original X or the Y, respectively, have been translocated on to an autosome. The sex chromosomes of these species segregate regularly at meiosis; two kinds of sperm and one kind of egg are produced and the sex ratio is the normal 1:1. Individuals with deviating sex chromosome constitutions (XXY, XYY, XO or XXX) have been found in at least 16 mammalian species other than man. The phenotypic manifestations of these deviating constitutions are briefly discussed. In the dog, pig, goat and mouse exceptional XX males and in the horse XY females attract attention. Certain rodents have complicated mechanisms for sex determination: Ellobius lutescens and Tokudaia osimensis have XO males and females. Both sexes of Microtus oregoni are gonosomic mosaics (male OY/XY, female XX/XO). The wood lemming, Myopus schisticolor, the collared lemming, Dirostonyx torquatus, and perhaps also one or two species of the genus Akodon have XX and XY females and XY males. The XX, X*X and X*Y females of Myopus and Dicrostonyx are discussed in some detail. The wood lemming has proved to be a favourable natural model for studies in sex determination, because a large variety of sex chromosome aneuploids are born relatively frequently. The dosage model for sex determination is not supported by the wood lemming data. For male development, genes on both the X and the Y chromosomes are necessary. PMID:2907806

  20. Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females

    SciTech Connect

    Levilliers, J.; Quack, B.; Weissenbach, J.; Petit, C. )

    1989-04-01

    Human Y(+) XX maleness has been shown to result from an abnormal terminal Xp-Yp interchange that can occur during paternal meiosis. To test whether human XY females are produced by the same mechanism, the authors followed the inheritance of paternal pseudoautosomal loci and Xp22.3-specific loci in two XY female patients. Y-specific sequences and the whole pseudoautosomal region of the Y chromosome of their fathers were absent in these patients. However, the entire pseudoautosomal region and the X-specific part of Xp22.3 distal to the STS locus had been inherited from the X chromosome of the respective father. This Xp transfer to Yp was established by in situ hybridization experiments showing an Xp22.3-specific locus on Yp in both cases. Such results demonstrate that an abnormal and terminal X-Y interchange generated the rearranged Y chromosome of these two XY females; they appear to be the true counter type of Y(+) XX males. In these patients, who also display some Turner stigmata, the Y gene(s) involved in this phenotype is (are) localized to interval 1 or 2. If the loss of such gene(s) affects fetal viability, their proximity to TDF would account for the under representation of interchange 46,XY females compared with Y(+) XX males.

  1. Distinct behavioral phenotypes in male mice lacking the thyroid hormone receptor ?1 or ? isoforms.

    PubMed

    Vasudevan, Nandini; Morgan, Maria; Pfaff, Donald; Ogawa, Sonoko

    2013-05-01

    Thyroid hormones influence both neuronal development and anxiety via the thyroid hormone receptors (TRs). The TRs are encoded by two different genes, TR? and TR?. The loss of TR?1 is implicated in increased anxiety in males, possibly via a hippocampal increase in GABAergic activity. We compared both social behaviors and two underlying and related non-social behaviors, state anxiety and responses to acoustic and tactile startle in the gonadally intact TR?1 knockout (?1KO) and TR? (?KO) male mice to their wild-type counterparts. For the first time, we show an opposing effect of the two TR isoforms, TR?1 and TR?, in the regulation of state anxiety, with ?1 knockout animals (?1KO) showing higher levels of anxiety and ?KO males showing less anxiety compared to respective wild-type mice. At odds with the increased anxiety in non-social environments, ?1KO males also show lower levels of responsiveness to acoustic and tactile startle stimuli. Consistent with the data that T4 is inhibitory to lordosis in female mice, we show subtly increased sex behavior in ?1KO male mice. These behaviors support the idea that TR?1 could be inhibitory to ER? driven transcription that ultimately impacts ER? driven behaviors such as lordosis. The behavioral phenotypes point to novel roles for the TRs, particularly in non-social behaviors such as state anxiety and startle. PMID:23567476

  2. Transgenic Chickens Overexpressing Aromatase Have High Estrogen Levels but Maintain a Predominantly Male Phenotype.

    PubMed

    Lambeth, Luke S; Morris, Kirsten R; Wise, Terry G; Cummins, David M; O'Neil, Terri E; Cao, Yu; Sinclair, Andrew H; Doran, Timothy J; Smith, Craig A

    2016-01-01

    Estrogens play a key role in sexual differentiation of both the gonads and external traits in birds. The production of estrogen occurs via a well-characterized steroidogenic pathway, which is a multistep process involving several enzymes, including cytochrome P450 aromatase. In chicken embryos, the aromatase gene (CYP19A1) is expressed female-specifically from the time of gonadal sex differentiation. Ectopic overexpression of aromatase in male chicken embryos induces gonadal sex reversal, and male embryos treated with estradiol become feminized; however, this is not permanent. To test whether a continuous supply of estrogen in adult chickens could induce stable male to female sex reversal, 2 transgenic male chickens overexpressing aromatase were generated using the Tol2/transposase system. These birds had robust ectopic aromatase expression, which resulted in the production of high serum levels of estradiol. Transgenic males had female-like wattle and comb growth and feathering, but they retained male weights, displayed leg spurs, and developed testes. Despite the small sample size, this data strongly suggests that high levels of circulating estrogen are insufficient to maintain a female gonadal phenotype in adult birds. Previous observations of gynandromorph birds and embryos with mixed sex chimeric gonads have highlighted the role of cell autonomous sex identity in chickens. This might imply that in the study described here, direct genetic effects of the male chromosomes largely prevailed over the hormonal profile of the aromatase transgenic birds. This data therefore support the emerging view of at least partial cell autonomous sex development in birds. However, a larger study will confirm this intriguing observation. PMID:26556534

  3. Phenotypic classification of male pseudohermaphroditism due to steroid 5{alpha}-reductase 2 deficiency

    SciTech Connect

    Sinnecker, G.H.G; Hiort, O.; Kruse, K.; Dibbelt, L.

    1996-05-03

    Conversion of testosterone (T) to dihydrotestosterone (DHT) in genital tissue is catalysed by the enzyme 5{alpha}-reductase 2, which is encoded by the SRD5A2 gene. The potent androgen DHT is required for full masculinization of the external genitalia. Mutations of the SRD5A2 gene inhibit enzyme activity, diminish DHT formation, and hence cause masculinization defects of varying degree. The classical syndrome, formerly described as pseudovaginal perineoscrotal hypospadias, is characterized by a predominantly female phenotype at birth and significant virilization without gynecomastia at puberty. We investigated nine patients with steroid 5{alpha}-reductase 2 deficiency (SRD). T/DHT-ratios were highly increased in the classical syndrome, but variable in the less severe affected patients. Mutations in the SRD5A2 gene had been characterized using PCR-SSCP analysis and direct DNA sequencing. A small deletion was encountered in two patients, while all other patients had single base mutations which result in amino acid substitutions. We conclude that phenotypes may vary widely in patients with SRD5A2 gene mutations spanning the whole range from completely female to normal male without distinctive clinical signs of the disease. Hence, steroid 5{alpha}-reductase deficiency should be considered not only in sex reversed patients with female or ambiguous phenotypes, but also in those with mild symptoms of undermasculinization as encountered in patients with hypospadias and/or micropenis. A classification based on the severity of the masculinization defect may be used for correlation of phenotypes with enzyme activities and genotypes, and for comparisons of phenotypes between different patients as the basis for clinical decisions to be made in patients with pseudohermaphroditism due to steroid 5{alpha}-reductase 2 deficiency. 22 refs., 2 figs., 2 tabs.

  4. Phenotypic differences between male physicians, surgeons, and film stars: comparative study

    PubMed Central

    Aymerich, Marta; Lacy, Antonio M; Bertran, Maria J

    2006-01-01

    Objectives To test the hypothesis that, on average, male surgeons are taller and better looking than male physicians, and to compare both sets of doctors with film stars who play doctors on screen. Design Comparative study. Setting Typical university hospital in Spain, located in Barcelona and not in a sleepy backwater. Participants Random sample of 12 surgeons and 12 physicians plus 4 external controls (film stars who play doctors), matched by age (50s) and sex (all male). Interventions An independent committee (all female) evaluated the “good looking score” (range 1-7). Main outcome measures Height (cm) and points on the good looking score. Results Surgeons were significantly taller than physicians (mean height 179.4 v 172.6 cm; P=0.01). Controls had significantly higher good looking scores than surgeons (mean score 5.96 v 4.39; difference between means 1.57, 95% confidence interval 0.69 to 2.45; P=0.013) and physicians (5.96 v 3.65; 2.31, 1.58 to 3.04; P=0.003). Surgeons had significantly higher good looking scores than physicians (4.39 v 3.65; 0.74; 0.25 to 1.23; P=0.010). Conclusions Male surgeons are taller and better looking than physicians, but film stars who play doctors on screen are better looking than both these groups of doctors. Whether these phenotypic differences are genetic or environmental is unclear. PMID:17185711

  5. Direct production of XY(DMY-) sex reversal female medaka (Oryzias latipes) by embryo microinjection of TALENs.

    PubMed

    Luo, Daji; Liu, Yun; Chen, Ji; Xia, Xiaoqin; Cao, Mengxi; Cheng, Bin; Wang, Xuejuan; Gong, Wuming; Qiu, Chao; Zhang, Yunsheng; Cheng, Christopher Hon Ki; Zhu, Zuoyan; Hu, Wei

    2015-01-01

    Medaka is an ideal model for sex determination and sex reversal, such as XY phenotypically female patients in humans. Here, we assembled improved TALENs targeting the DMY gene and generated XY(DMY-) mutants to investigate gonadal dysgenesis in medaka. DMY-TALENs resulted in indel mutations at the targeted loci (46.8%). DMY-nanos3UTR-TALENs induced mutations were passed through the germline to F1 generation with efficiencies of up to 91.7%. XY(DMY-) mutants developed into females, laid eggs, and stably passed the Y(DMY-) chromosome to next generation. RNA-seq generated 157 million raw reads from WT male (WT_M_TE), WT female (WT_F_OV) and XY(DMY-) female medaka (TA_F_OV) gonad libraries. Differential expression analysis identified 144 up- and 293 down-regulated genes in TA_F_OV compared with WT_F_OV, 387 up- and 338 down-regulated genes in TA_F_OV compared with WT_M_TE. According to genes annotation and functional prediction, such as Wnt1 and PRCK, it revealed that incomplete ovarian function and reduced fertility of XY(DMY-) mutant is closely related to the wnt signaling pathway. Our results provided the transcriptional profiles of XY(DMY-) mutants, revealed the mechanism between sex reversal and DMY in medaka, and suggested that XY(DMY-) medaka was a novel mutant that is useful for investigating gonadal dysgenesis in phenotypic female patients with the 46, XY karyotype. PMID:26365677

  6. Phenotypic and genomic plasticity of alternative male reproductive tactics in sailfin mollies.

    PubMed

    Fraser, Bonnie A; Janowitz, Ilana; Thairu, Margaret; Travis, Joseph; Hughes, Kimberly A

    2014-04-22

    A major goal of modern evolutionary biology is to understand the causes and consequences of phenotypic plasticity, the ability of a single genotype to produce multiple phenotypes in response to variable environments. While ecological and quantitative genetic studies have evaluated models of the evolution of adaptive plasticity, some long-standing questions about plasticity require more mechanistic approaches. Here, we address two of those questions: does plasticity facilitate adaptive evolution? And do physiological costs place limits on plasticity? We examine these questions by comparing genetically and plastically regulated behavioural variation in sailfin mollies (Poecilia latipinna), which exhibit striking variation in plasticity for male mating behaviour. In this species, some genotypes respond plastically to a change in the social environment by switching between primarily courting and primarily sneaking behaviour. In contrast, other genotypes have fixed mating strategies (either courting or sneaking) and do not display plasticity. We found that genetic and plastic variation in behaviour were accompanied by partially, but not completely overlapping changes in brain gene expression, in partial support of models that predict that plasticity can facilitate adaptive evolution. We also found that behavioural plasticity was accompanied by broader and more robust changes in brain gene expression, suggesting a substantial physiological cost to plasticity. We also observed that sneaking behaviour, but not courting, was associated with upregulation of genes involved in learning and memory, suggesting that sneaking is more cognitively demanding than courtship. PMID:24573842

  7. The University of Chicago Male Bias in Distributions of Additive Genetic, Residual, and Phenotypic Variances of Shared

    E-print Network

    Sokolowski, Marla

    The University of Chicago Male Bias in Distributions of Additive Genetic, Residual, and Phenotypic. 184, No. 3 (September 2014), pp. 326-337 Published by: The University of Chicago Press@jstor.org. . The University of Chicago Press, The American Society of Naturalists, The University of Chicago are collaborating

  8. Individual Consistency and Phenotypic Plasticity in Rockhopper Penguins: Female but Not Male Body Mass Links Environmental Conditions to Reproductive Investment

    PubMed Central

    Dehnhard, Nina; Eens, Marcel; Demongin, Laurent; Quillfeldt, Petra; Poisbleau, Maud

    2015-01-01

    In marine habitats, increasing ocean temperatures due to global climate change may distinctly reduce nutrient and consequently food availability for seabirds. Food availability is a known driver of body mass and reproductive investment in birds, but these traits may also depend on individual effects. Penguins show extreme intra-annual body mass variation and rely on accumulated body reserves for successful breeding. However, no study so far has tested individual consistency and phenotypic responses in body mass and reproductive investment in this taxon. Using a unique dataset on individually marked female and male southern rockhopper penguins (Eudyptes chrysocome chrysocome) across six years, we investigated 1) the individual consistency in body mass (measured at egg laying), body condition and reproductive investment across years, subsequently 2) identified the best-explanatory temperature-related environmental variables for female and male body mass, and 3) tested the effect of female and male body mass on reproductive investment. Body mass, body condition and reproductive investment were all highly repeatable. As body condition should control for the structural size of the birds, the similarly high repeatability estimates for body mass and body condition suggested that the consistent between-individual body mass differences were independent of structural size. This supported the use of body mass for the subsequent analyses. Body mass was higher under colder environmental conditions (positive Southern Annular Mode), but the overall phenotypic response appeared limited. Reproductive investment increased with female but not male body mass. While environmental effects on body mass in our study period were rather small, one can expect that ongoing global climate change will lead to a deterioration of food availability and we might therefore in the long-term expect a phenotypical decline in body mass and reproductive investment. PMID:26030824

  9. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

    PubMed

    Brady, Paul D; Van Esch, Hilde; Fieremans, Nathalie; Froyen, Guy; Slavotinek, Anne; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris R

    2015-04-01

    Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies including diaphragmatic hernia, spina bifida and cardiac defects. Surprisingly, we identified a maternally inherited variant in PORCN present in both males as well as in two female siblings. This represents the first finding of a PORCN variant in non-mosaic males affected with Goltz-Gorlin syndrome. The apparently asymptomatic mother showed extreme skewing of X-inactivation (90%), an asymptomatic female sibling showed skewing of 88%, and the second female sibling affected with cutis aplasia of the scalp showed X-inactivation considered within the normal range. PMID:25026905

  10. Phenotypic changes in immune cell subsets reflect increased infarct volume in male vs. female mice.

    PubMed

    Banerjee, Anirban; Wang, Jianming; Bodhankar, Sheetal; Vandenbark, Arthur A; Murphy, Stephanie J; Offner, Halina

    2013-10-01

    Inflammatory responses in the brain after cerebral ischemia have been studied extensively in male mice, but not female mice, thus potentially giving a less-than-accurate view of gender associated pathological processes. In humans, cerebral infarcts are typically smaller in premenopausal females than in age-matched males. In the current study, we confirmed smaller infarcts in female vs. male mice after middle cerebral artery occlusion and 96 h of reperfusion. Moreover, we explored immunological alterations related to this difference and found that the percentage of CD4+ T lymphocytes was significantly higher in spleens in males than females, with increased expression of the activation markers, CD69 and CD44. In contrast, the percentage of CD8+ T lymphocytes was significantly higher in spleens of females than males, leading to the identification of a small but distinct population of IL-10-secreting CD8+CD122+ suppressor T cells that were also increased in females. Finally, we observed that males have a greater percentage of activated macrophages/microglia in the brain than females, as well as increased expression of the VLA-4 adhesion molecule in both brain and spleen. This new information suggesting gender-dependent immunological mechanisms in stroke implies that effective treatments for human stroke may also be gender specific. PMID:24187596

  11. Differential rates of phenotypic introgression are associated with male behavioral responses to multiple signals.

    PubMed

    Greig, Emma I; Baldassarre, Daniel T; Webster, Michael S

    2015-10-01

    Sexual selection on multiple signals may lead to differential rates of signal introgression across hybrid zones if some signals contribute to reproductive isolation but others facilitate gene flow. Competition among males is one powerful form of sexual selection, but male behavioral responses to multiple traits have not been considered in a system where traits have introgressed differentially. Using playbacks, mounts, and a reciprocal experimental design, we tested the hypothesis that male responses to song and plumage in two subspecies of red-backed fairy-wren (Malurus melanocephalus) explain patterns of differential signal introgression (song has not introgressed, whereas plumage color has introgressed asymmetrically). We found that males of both subspecies discriminated symmetrically between subspecies' songs at a long range, but at a close range, we found that aggression was equal for both subspecies' plumage and songs. Taken together, our results suggest that male behavioral responses hinder the introgression of song, but allow for the observed asymmetrical introgression of plumage. Our results highlight how behavioral responses are a key component of signal evolution when recently divergent taxa come together, and how differential responses to multiple signals may lead to differential signal introgression and novel trait combinations. PMID:26292844

  12. Integrated optical XY coupler

    DOEpatents

    Vawter, G.A.; Hadley, G.R.

    1997-05-06

    An integrated optical XY coupler having two converging input waveguide arms meeting in a central section and a central output waveguide arm and two diverging flanking output waveguide arms emanating from the central section. In-phase light from the input arms constructively interferes in the central section to produce a single mode output in the central output arm with the rest of the light being collected in the flanking output arms. Crosstalk between devices on a substrate is minimized by this collection of the out-of-phase light by the flanking output arms of the XY coupler. 9 figs.

  13. Dissociation of ultradian and circadian phenotypes in female and male Siberian hamsters.

    PubMed

    Prendergast, Brian J; Cisse, Yasmine M; Cable, Erin J; Zucker, Irving

    2012-08-01

    Three experiments addressed whether pronounced alterations in the circadian system yielded concomitant changes in ultradian timing. Female Siberian hamsters were housed in a 16L:8D photoperiod after being subjected to a disruptive phase-shifting protocol that produced 3 distinct permanent circadian phenotypes: some hamsters entrained their circadian rhythms (CRs) with predominantly nocturnal locomotor activity (ENTR), others displayed free-running CRs (FR), and a third cohort was circadian arrhythmic (ARR). The period of the ultradian locomotor rhythm (UR) did not differ among the 3 circadian phenotypes; neuroendocrine generation of URs remains viable in the absence of coherent circadian organization and appears to be mediated by substrates functionally and anatomically distinct from those that generate CRs. Pronounced light-dark differences in several UR characteristics in ENTR hamsters were completely absent in circadian arrhythmic hamsters. The disruptive phase-shifting protocol may compromise direct visual input to ultradian oscillators but more likely indirectly affects URs by interrupting visual afference to the circadian system. Additional experiments documented that deuterium oxide and constant light, each of which substantially lengthened the period of free-running CRs, failed to change the period of concurrently monitored URs. The resistance of URs to deuteration contrasts with the slowing of virtually all other biological timing processes, including CRs. Considered together, the present results point to the existence of separable control mechanisms for generation of circadian and ultradian rhythms. PMID:22855573

  14. Effects of paternal phenotype and environmental variability on age and size at maturity in a male dimorphic mite

    NASA Astrophysics Data System (ADS)

    Smallegange, Isabel M.

    2011-04-01

    Investigating how the environment affects age and size at maturity of individuals is crucial to understanding how changes in the environment affect population dynamics through the biology of a species. Paternal phenotype, maternal, and offspring environment may crucially influence these traits, but to my knowledge, their combined effects have not yet been tested. Here, I found that in bulb mites ( Rhizoglyphus robini), maternal nutrition, offspring nutrition, and paternal phenotype (males are fighters, able to kill other mites, or benign scramblers) interactively affected offspring age and size at maturity. The largest effect occurred when both maternal and offspring nutrition was poor: in that case offspring from fighter sires required a significantly longer development time than offspring from scrambler sires. Investigating parental effects on the relationship between age and size at maturity revealed no paternal effects, and only for females was its shape influenced by maternal nutrition. Overall, this reaction norm was nonlinear. These non-genetic intergenerational effects may play a complex, yet unexplored role in influencing population fluctuations—possibly explaining why results from field studies often do not match theoretical predictions on maternal effects on population dynamics.

  15. Postanesthetic Effects of Isoflurane on Behavioral Phenotypes of Adult Male C57BL/6J Mice

    PubMed Central

    Asakura, Ayako; Kobayashi, Ayako; Takase, Kenkichi; Goto, Takahisa

    2015-01-01

    Isoflurane was previously the major clinical anesthetic agent but is now mainly used for veterinary anesthesia. Studies have reported widespread sites of action of isoflurane, suggesting a wide array of side effects besides sedation. In the present study, we phenotyped isoflurane-treated mice to investigate the postanesthetic behavioral effects of isoflurane. We applied comprehensive behavioral test batteries comprising sensory test battery, motor test battery, anxiety test battery, depression test battery, sociability test battery, attention test battery, and learning test battery, which were started 7 days after anesthesia with 1.8% isoflurane. In addition to the control group, we included a yoked control group that was exposed to the same stress of handling as the isoflurane-treated animals before being anesthetized. Our comprehensive behavioral test batteries revealed impaired latent inhibition in the isoflurane-treated group, but the concentration of residual isoflurane in the brain was presumably negligible. The yoked control group and isoflurane-treated group exhibited higher anxiety in the elevated plus-maze test and impaired learning function in the cued fear conditioning test. No influences were observed in sensory functions, motor functions, antidepressant behaviors, and social behaviors. A number of papers have reported an effect of isoflurane on animal behaviors, but no systematic investigation has been performed. To the best of our knowledge, this study is the first to systematically investigate the general health, neurological reflexes, sensory functions, motor functions, and higher behavioral functions of mice exposed to isoflurane as adults. Our results suggest that the postanesthetic effect of isoflurane causes attention deficit in mice. Therefore, isoflurane must be used with great care in the clinical setting and veterinary anesthesia. PMID:25806517

  16. Negative biomarker-based male fertility evaluation: sperm phenotypes associated with molecular-level anomalies

    PubMed Central

    Sutovsky, Peter; Aarabi, Mahmoud; Miranda-Vizuete, Antonio; Oko, Richard

    2015-01-01

    Biomarker-based sperm analysis elevates the treatment of human infertility and ameliorates reproductive performance in livestock. The negative biomarker-based approach focuses on proteins and ligands unique to defective spermatozoa, regardless of their morphological phenotype, lending itself to analysis by flow cytometry (FC). A prime example is the spermatid specific thioredoxin SPTRX3/TXNDC8, retained in the nuclear vacuoles and superfluous cytoplasm of defective human spermatozoa. Infertile couples with high semen SPTRX3 are less likely to conceive by assisted reproductive therapies (ART) and more prone to recurrent miscarriage while low SPTRX3 has been associated with multiple ART births. Ubiquitin, a small, proteolysis-promoting covalent posttranslational protein modifier is found on the surface of defective posttesticular spermatozoa and in the damaged protein aggregates, the aggresomes of spermiogenic origin. Semen ubiquitin content correlates negatively with fertility and conventional semen parameters, and with sperm binding of lectins LCA (Lens culinaris agglutinin; reveals altered sperm surface) and PNA (Arachis hypogaea/peanut agglutinin; reveals acrosomal malformation or damage). The Postacrosomal Sheath WWI Domain Binding Protein (PAWP), implicated in oocyte activation during fertilization, is ectopic or absent from defective human and animal spermatozoa. Consequently, FC-parameters of PAWP correlate with ART outcomes in infertile couples and with fertility in bulls. Assays based on the above biomarkers have been combined into multiplex FC semen screening protocols, and the surface expression of lectins and ubiquitin has been utilized to develop nanoparticle-based bull semen purification method validated by field artificial insemination trials. These advances go hand-in-hand with the innovation of FC-technology and genomics/proteomics-based biomarker discovery. PMID:25999356

  17. Mucinous cystadenoma in a female patient with 45,X/46,XY karyotype.

    PubMed

    Bulakbasi, T; Erkanli, S; Ozer, O; Bolat, F; Yilmaz, Z; Sahin, F I

    2008-01-01

    The mosaic karyotype of 45,X/46,XY has a wide phenotypic spectrum and there are substantial differences between prenatally and postnatally diagnosed cases. The phenotype varies between normal male to classical Turner syndrome. There is a high risk of gonadal tumor development in the dysgenetic gonads of patients with sex chromosome mosaicism. We report a case of a 24-year-old patient with a pelvic mass and amenorrhea referred to our laboratory for karyotyping. Peripheral blood chromosome analysis showed a mosaic karyotype of 45,X[17]/46,XY[83]. The tumor originated from the left ovary and the right ovary was found to be a streak gonad. The uterus was intact. Pathologic examination of the tumor revealed mucinous cystadenoma. Physical examination of the patient showed signs of Turner syndrome, as short stature (145 cm), short neck and asymmetric shoulders. Her mental state was normal. Y chromosome microdeletion screening involving SRY and ZFY genes was performed and no deletion was found. The patient was informed about the condition during the genetic counseling session. PMID:18581772

  18. Phenotypic and QTL allelic associations among embryonic developmental rate, body size, and precocious maturation in male rainbow trout.

    PubMed

    Richardson, Colin J; Bernier, Nicholas J; Danzmann, Roy G; Ferguson, Moira M

    2014-12-01

    We examined associations among embryonic developmental rate (EDR) as measured by hatching time, juvenile body weight (BW) and propensity for precocial sexual maturation (PM) at two years in two sets of diallel crosses of rainbow trout produced in two spawning seasons (September and December) at both the phenotypic and genotypic levels. Dams and sires had highly significant effects on the body weight of their male juvenile progeny on three measurement dates where parental effects remained consistent through time. Dams spawning earlier in the season produced a greater number of mature male progeny (56.7%) than did later spawning females (25.6%). The families from the December lot showed the expected associations among traits in that earlier hatching fish were significantly heavier on all three measurement dates than later hatching fish and were more likely to mature earlier when families were combined. Moreover, earlier maturing fish were significantly heavier on the third measurement date than those that did not mature. In the September lot, mature fish were significantly heavier as juveniles on all three measurement dates than immature fish as predicted but no significant associations were detected between EDR and BW or between PM and EDR. Significant QTL were detected for all three traits but the linkage group location varied depending on the trait and half-sib group analyzed (across dams and sires in each lot). A strong QTL for EDR with genome-wide effects was detected on linkage group RT-8 in all four half-sib analyses. None of the four linkage groups analyzed had QTL for all three traits. However, the phenotypic association between EDR and BW observed in the December lot was supported by the co-localization of QTL to linkage group RT-8 and a positive coupling of allelic effects. RT-8 marker alleles significantly associated with faster EDR were also associated with larger BW and this was observed in numerous families on all three measurement dates. Linkage group RT-24 had weaker QTL for all three traits in the September lot but these were not detected in the same half-sib group simultaneously. At the allelic level, marker alleles for faster EDR were also associated with BW but only at the third measurement date and the progeny of one male. Similarly, RT-30 had weaker QTL for EDR and PM in the December paternal half-sib analysis but no associations were evident at the allelic level. The detection of associations between life history traits and growth at both the phenotypic and genotypic levels has significant implications to aquaculture breeding programs where selection for a desirable trait may lead to unwanted alterations of other traits. Furthermore, the differences between spawning season lots emphasize the complex interaction between environment and genotype on economically important traits and the resulting challenges for aquaculture. PMID:25023604

  19. SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation.

    PubMed

    Fernández-Cancio, M; Audí, L; Andaluz, P; Torán, N; Piró, C; Albisu, M; Gussinyé, M; Yeste, D; Clemente, M; Martínez-Mora, J; Blanco, A; Granada, M L; Marco, M; Ferragut, J; López-Siguero, J P; Beneyto, M; Carles, C; Carrascosa, A

    2011-12-01

    One hundred and forty-six index patients with 46,XY DSD in whom gonads were confirmed as testes were consecutively studied for a molecular diagnosis during the period 2002-2010. AR gene was analysed in all patients as the first candidate gene, yielding a mutation in 42.5% of cases and SRD5A2 gene was analysed as the second candidate gene, resulting in the characterization of 10 different mutations (p.Y91D, p.G115D, p.Q126R, p.R171S, p.Y188CfsX9, p.N193S, p.A207D, p.F219SfsX60, p.R227Q and p.R246W) in nine index patients (6.2% of the total number of 46,XY DSD patients). One of the mutations (p.Y188CfsX9) has never been reported. In addition, we genotyped SRD5A2 gene p.V89L and c.281+15T>C polymorphisms in 46,XY DSD and in 156 normal adult males and found that patients with SRD5A2 mutations or without a known molecular diagnosis presented a higher frequency of homozygous p.L89, homozygous TT and combined CCTT genotypes compared with controls. This result suggests that 46,XY DSD patient phenotypes may be influenced by SRD5A2 polymorphism genotypes. SRD5A2 gene mutations may not be as infrequent as previously considered in 46,XY DSD patients with variable degrees of external genitalia virilization at birth and normal T production and appears to be the second aetiology in our series. PMID:21631525

  20. An extreme bias in the germ line of XY C57BL/6<->XY FVB/N chimaeric mice

    PubMed Central

    MacGregor, G. R.

    2011-01-01

    Chimaeric analysis is a powerful method to address questions about the cell-autonomous nature of defects in spermatogenesis. Symplastic spermatids (sys) mice have a recessive mutation that causes male sterility due to an arrest in germ-cell development during spermiogenesis. Chimaeric mice were generated by aggregation of eight-cell embryos from sys (FVB/N genetic background) and wild-type C57BL/6 (B6) mice to determine whether the male germ-cell defect is cell-autonomous. The resulting FVB/N<->B6 chimaeras (<-> denotes fusion of embryos) were mated with FVB/N mice and coat colour of offspring was used to identify transmission of FVB/N or B6 gametes. Regardless of the relative contribution of B6 to somatic tissues of the chimaeras, almost all (282 of 284; 99.3%) offspring of B6 XY<->XY FVB/N (+/+ or sys/+) males (n = 9) received a FVB/N-derived paternal gamete. After mating of female B6<->FVB/N chimaeras, 51 of 73 (69.9%) offspring received an FVB-derived maternal gamete. Southern blot analysis of different tissues from chimaeric males indicated that, despite the presence of balanced chimaerism in somatic tissues, the germ line in B6 XY<->XY FVB/N mice was essentially FVB/N in composition. Thus there is a strong selective advantage for FVB/N male germ cells over B6 male germ cells in B6<->FVB/N-aggregation chimaeras at some stage during development of the male germ line. Each of three male chimaeras that were either B6 XY<->XY FVB/N (sys/sys) or B6 XX<->XY FVB/N (sys/sys) in composition was sterile, and testis histology was essentially sys mutant. This finding indicates that the function of the gene(s) affected in the sys mutation may be required in the testis, although whether expression is required in germ cells, somatic cells or both remains unknown. The extreme bias in transmission of male gametes has implications for experimental design in studies that use chimaeric analysis to address questions regarding the cell-autonomous nature of germ-cell defects in mice. PMID:12201811

  1. 2. VIEW OF INTERIOR OF XY RETRIEVER. THE XY RETRIEVER ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    2. VIEW OF INTERIOR OF X-Y RETRIEVER. THE X-Y RETRIEVER WAS HOUSED IN MODULE K AND WAS USED TO SORT AND RETRIEVE PLUTONIUM METAL FROM A STORAGE VAULT FOR DISTRIBUTION TO OTHER PROCESSES IN BUILDING 707. (11/29/88) - Rocky Flats Plant, Plutonium Manufacturing Facility, North-central section of Plant, just south of Building 776/777, Golden, Jefferson County, CO

  2. Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype.

    PubMed

    Kempe, A; Engels, H; Schubert, R; Meindl, A; van der Ven, K; Plath, H; Rhiem, K; Schwanitz, G; Schmutzler, R K

    2002-04-01

    An asymptomatic woman (age 38 years) with a family history of ovarian malignancies was referred for presymptomatic genetic testing of mutations in the BRCA genes. A familial Swyer syndrome with the occurrence of dysgerminomas is the most likely diagnosis. However, in our case, all known causes of this heterogeneous disorder have been excluded pointing to the existence of another yet unknown genetic locus. The family history revealed three affected paternal aunts. Two of them developed ovarian malignancies at 13 and 15 years of age, and died at ages 19 and 20. The third aunt, 82 years old, was affected by this disease at the age of 35. She underwent hormonal treatment for 3 years starting at the age of 15 because of primary amenorrhea. Under this treatment she developed nearly complete secondary sexual characteristics. Karyotype analysis revealed a normal male karyotype (46 XY, QFQ). Pelvic ultrasound showed an uterus of normal size, incompatible with an androgen resistance syndrome or a defect in testosterone biosynthesis. We excluded a mutation in the sex-determining region on chromosome Y (SRY) by direct sequencing of the SRY gene. An involvement of the subtelomeric region of chromosome 9p (9p 24.3) recently reported to be involved in XY-sex reversal phenotypes was excluded by molecular testing for loss of heterozygosity as well as fluorescence in situ hybridization studies. Analyses of the DAX1 gene in the dosage sensitive sex reversal locus on chromosome Xp21 by Southern blot analysis showed no duplications. PMID:12012620

  3. Pseudohermaphroditism due to XY gonadal absence syndrome.

    PubMed Central

    Alfaro, S K; Saavedra, D; Ochoa, S; Scaglia, H; Pérez-Palacios, G

    1976-01-01

    A 21-year-old phenotypic female with a 46,XY chromosome complement and gonadal absence was studied. Basal levels of plasma immunoreactive luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone, and oestradiol were measured. Pituitary sensitivity and reserve was evaluated by the exogenous administration of synthetic luteinizing hormone-releasing hormone. The episodic release of gonadotrophins was assessed by measuring plasma LH and FSH in plasma samples obtained at 20-minute intervals for a 4-hour period. Endocrine gonadal function was evaluated by a stimulation test with human chorionic gonadotrophin for 3 days. The results showed: a) persistently raised plasma levels of both LH and FSH; b) a pulsatile pattern of release of both gonadotrophins and a normal pituitary response to the synthetic hypothalamic decapeptide; and c) extremely low levels of circulating testosterone and oestradiol with a lack of response to the HCG stimulus. A careful exploratory laparotomy revealed absence of uterus, Fallopian tubes, the Mullerian portion of the vagina, and gonads. No Wolffian derivatives were found. A dissociation of testosterone and the so-called Jost substance effects during early sexual development may explain the findings in this unusual abnormality. The term 'XY gonadal absence syndrome' including five types of variants to designate this condition is proposed. PMID:933126

  4. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype

    PubMed Central

    2012-01-01

    Background Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe phenotype. Most carrier females show complete skewing of X-inactivation in peripheral blood and an apparent susceptibility to specific personality traits or neuropsychiatric symptoms. Methods We describe the clinical phenotype of a pedigree segregating a duplication of MECP2 found on clinical array comparative genomic hybridization. The position, size, and extent of the duplication were delineated in peripheral blood samples from affected individuals using multiplex ligation-dependent probe amplification and fluorescence in situ hybridization, as well as targeted high-resolution oligonucleotide microarray analysis and long-range PCR. The molecular consequences of the rearrangement were studied in lymphoblast cell lines using quantitative real-time PCR, reverse transcriptase PCR, and western blot analysis. Results We observed a partial MECP2 duplication in an adult male with epilepsy and mild neurocognitive impairment who was able to function independently; this phenotype has not previously been reported among males harboring gains in MECP2 copy number. The same duplication was inherited by this individual’s daughter who was also affected with neurocognitive impairment and epilepsy and carried an additional copy-number variant. The duplicated segment involved all four exons of MECP2, but excluded almost the entire 3' untranslated region (UTR), and the genomic rearrangement resulted in a MECP2-TEX28 fusion gene mRNA transcript. Increased expression of MECP2 and the resulting fusion gene were both confirmed; however, western blot analysis of lysates from lymphoblast cells demonstrated increased MeCP2 protein without evidence of a stable fusion gene protein product. Conclusion The observations of a mildly affected adult male with a MECP2 duplication and paternal transmission of this duplication are unique among reported cases with a duplication of MECP2. The clinical and molecular findings imply a minimal critical region for the full neurocognitive expression of the MECP2 duplication syndrome, and suggest a role for the 3? UTR in mitigating the severity of the disease phenotype. PMID:22883432

  5. Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene

    PubMed Central

    Alika?ifo?lu, Ayfer; Vurall?, Do?u?; Hiort, Olaf; Gönç, Nazl?; Özön, Alev; Kandemir, Nurgün

    2015-01-01

    17-?-hydroxysteroid dehydrogenase type 3 (17?-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias. This paper reports a one-year-old 46,XY patient with 17?-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region. The low T/?4 ratio after human chorionic gonadotropin (hCG) stimulation suggested 17?-HSD3 deficiency. A homozygous mutation, c.761_762delAG, was determined at the intron 9/exon 10 splice site of the HSD17B3 gene. To the best of our knowledge, this mutation has not been reported thus far, but its localization and type would imply a complete disruption of the 17?-HSD3 which may explain the phenotype of our patient.

  6. Mitochondrial DNA polymerase editing mutation, PolgD257A, reduces the diabetic phenotype of Akita male mice by suppressing appetite

    PubMed Central

    Fox, Raymond; Kim, Hyung-Suk; Reddick, Robert L.; Kujoth, Gregory C.; Prolla, Tomas A.; Tsutsumi, Shuichi; Wada, Youichiro; Smithies, Oliver; Maeda, Nobuyo

    2011-01-01

    Diabetes and the development of its complications have been associated with mitochondrial DNA (mtDNA) dysfunction, but causal relationships remain undetermined. With the objective of testing whether increased mtDNA mutations exacerbate the diabetic phenotype, we have compared mice heterozygous for the Akita diabetogenic mutation (Akita) with mice homozygous for the D257A mutation in mitochondrial DNA polymerase gamma (Polg) or with mice having both mutations (Polg-Akita). The Polg-D257A protein is defective in proofreading and increases mtDNA mutations. At 3 mo of age, the Polg-Akita and Akita male mice were equally hyperglycemic. Unexpectedly, as the Polg-Akita males aged to 9 mo, their diabetic symptoms decreased. Thus, their hyperglycemia, hyperphagia and urine output declined significantly. The decrease in their food intake was accompanied by increased plasma leptin and decreased plasma ghrelin, while hypothalamic expression of the orexic gene, neuropeptide Y, was lower and expression of the anorexic gene, proopiomelanocortin, was higher. Testis function progressively worsened with age in the double mutants, and plasma testosterone levels in 9-mo-old Polg-Akita males were significantly reduced compared with Akita males. The hyperglycemia and hyperphagia returned in aged Polg-Akita males after testosterone administration. Hyperglycemia-associated distal tubular damage in the kidney also returned, and Polg-D257A-associated proximal tubular damage was enhanced. The mild diabetes of female Akita mice was not affected by the Polg-D257A mutation. We conclude that reduced diabetic symptoms of aging Polg-Akita males results from appetite suppression triggered by decreased testosterone associated with damage to the Leydig cells of the testis. PMID:21555558

  7. A case report of rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome and mediastinal germ cell tumor.

    PubMed

    Song, J S; Lee, S H; Jin, D K; Kim, S H

    2014-01-01

    Klinefelter syndrome (KS) is a common sex chromosome disorder and is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Among karyotypic variants of KS, mosaicism 47,XXY/46,XX is extremely rare. We report here a case of an 18-year-old boy with a mosaic 47,XXY/46,XX karyotype of peripheral blood diagnosed as KS. The boy presented with anterior mediastinal mass which was confirmed as combined carvenous lymphangioma and mixed germ cell tumor by histologic examination of resected tissue. He had the male phenotype, however, azoospermia was incidentally detected on sperm banking analysis, performed prior to chemotherapy for mixed germ cell tumor. He had small and firm testes, mild gynecomastia, collectively tanner stage IV, mild hypergonadotropic hypogonadism and no evidence of true hermaphroditism. This report presents a rare case of mosaicism 47,XXY/46,XX karyotype in a phenotypic male with KS and mediastinal germ cell tumors. Based on what we experienced and review of the literature, cytogenetic analysis is recommended when physicians are confronted with a young patient with mediastinal germ cell tumor. PMID:25059022

  8. Limited plasticity in the phenotypic variance-covariance matrix for male advertisement calls in the black field cricket, Teleogryllus commodus

    PubMed Central

    Pitchers, W. R.; Brooks, R.; Jennions, M. D.; Tregenza, T.; Dworkin, I.; Hunt, J.

    2013-01-01

    Phenotypic integration and plasticity are central to our understanding of how complex phenotypic traits evolve. Evolutionary change in complex quantitative traits can be predicted using the multivariate breeders’ equation, but such predictions are only accurate if the matrices involved are stable over evolutionary time. Recent work, however, suggests that these matrices are temporally plastic, spatially variable and themselves evolvable. The data available on phenotypic variance-covariance matrix (P) stability is sparse, and largely focused on morphological traits. Here we compared P for the structure of the complex sexual advertisement call of six divergent allopatric populations of the Australian black field cricket, Teleogryllus commodus. We measured a subset of calls from wild-caught crickets from each of the populations and then a second subset after rearing crickets under common-garden conditions for three generations. In a second experiment, crickets from each population were reared in the laboratory on high- and low-nutrient diets and their calls recorded. In both experiments, we estimated P for call traits and used multiple methods to compare them statistically (Flury hierarchy, geometric subspace comparisons and random skewers). Despite considerable variation in means and variances of individual call traits, the structure of P was largely conserved among populations, across generations and between our rearing diets. Our finding that P remains largely stable, among populations and between environmental conditions, suggests that selection has preserved the structure of call traits in order that they can function as an integrated unit. PMID:23530814

  9. Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies

    SciTech Connect

    Shankman, S.; Spurdle, A.B.; Morris, D.

    1995-01-30

    The extent of Y chromosome material was determined in 6 southern African subjects with sex chromosome anomalies. Four of the subjects were phenotypically female, and 2 were phenotypically male. Molecular and cytogenetic findings were correlated with phenotypic expression. An X;Y translocation was found in both male subjects, and in one female subject. The remaining female subjects were characterized by an isodicentric Y, an isochromosome Yq, and a micromarker of undetermined origin, respectively. The individuals were tested for the presence of a number of Y-specific DNA sequences. Molecular findings were generally compatible with the cytogenetic findings, and also with the phenotypic sex of the patients. All the female subjects had Y material and all but one were negative for the sex determining region of the Y (SRY). The somatic Ullrich-Turner-like findings present in 3 of the females were attributed to either the presence of a 45,X cell line and/or a single copy of Xp. The males both showed X;Y translocations without any detectable loss of Y DNA. Although molecularly very similar, the disparate clinical findings in these 2 subjects could have been accounted for by different X inactivation patterns. 30 refs., 2 figs., 3 tabs.

  10. 46,XX Male Disorder of Sexual Development: A Case Report

    PubMed Central

    An?k, Ahmet; Çatl?, Gönül; Abac?, Ayhan; Böber, Ece

    2013-01-01

    The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46, XX male is rare (1:20 000 in newborn males), and SRY positivity is responsible for this condition in approximately 90% of these subjects. External genitalia of 46,XX SRY-positive males appear as normal male external genitalia, and such cases are diagnosed when they present with small testes and/or infertility after puberty. Herein, we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,XX male. SRY positivity was demonstrated in the patient by fluorescence in situ hybridization method. Conflict of interest:None declared. PMID:24379036

  11. Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice

    PubMed Central

    Gadalla, Kamal KE; Bailey, Mark ES; Spike, Rosemary C; Ross, Paul D; Woodard, Kenton T; Kalburgi, Sahana Nagabhushan; Bachaboina, Lavanya; Deng, Jie V; West, Anne E; Samulski, R Jude; Gray, Steven J; Cobb, Stuart R

    2013-01-01

    Typical Rett syndrome (RTT) is a pediatric disorder caused by loss-of-function mutations in the methyl-CpG binding protein 2 (MECP2) gene. The demonstrated reversibility of RTT-like phenotypes in mice suggests that MECP2 gene replacement is a potential therapeutic option in patients. We report improvements in survival and phenotypic severity in Mecp2-null male mice after neonatal intracranial delivery of a single-stranded (ss) AAV9/chicken ?-actin (CBA)-MECP2 vector. Median survival was 16.6 weeks for MECP2-treated versus 9.3 weeks for green fluorescent protein (GFP)-treated mice. ssAAV9/CBA-MECP2–treated mice also showed significant improvement in the phenotype severity score, in locomotor function, and in exploratory activity, as well as a normalization of neuronal nuclear volume in transduced cells. Wild-type (WT) mice receiving neonatal injections of the same ssAAV9/CBA-MECP2 vector did not show any significant deficits, suggesting a tolerance for modest MeCP2 overexpression. To test a MECP2 gene replacement approach in a manner more relevant for human translation, a self-complementary (sc) adeno-associated virus (AAV) vector designed to drive MeCP2 expression from a fragment of the Mecp2 promoter was injected intravenously (IV) into juvenile (4–5 weeks old) Mecp2-null mice. While the brain transduction efficiency in juvenile mice was low (~2–4% of neurons), modest improvements in survival were still observed. These results support the concept of MECP2 gene therapy for RTT. PMID:23011033

  12. Permanent and functional male-to-female sex reversal in d-rR strain medaka (Oryzias latipes) following egg microinjection of o,p'-DDT.

    PubMed Central

    Edmunds, J S; McCarthy, R A; Ramsdell, J S

    2000-01-01

    Complete sex reversal of fish is accomplished routinely in aquaculture practices by exposing fish to exogenous sex steroids during gonadal differentiation. A variety of environmental chemicals are also active at sex steroid receptors and theoretically possess the potential to alter normal sexual differentiation in fish. However, in controlled environmental chemical exposures to date, only partial alterations of fish sexual phenotype have been observed. Here we report complete, permanent, and functional male-to-female sex reversal in the Japanese medaka (Oryzias latipes, d-rR strain) after a onetime embryonic exposure to the xenoestrogen o, p'-DDT. d-rR strain medaka are strict gonochorists that possesses both sex-linked pigmentation, which distinguishes genotypic sex, and sexually dimorphic external secondary sexual characteristics, which distinguish phenotypic sex. We directly microinjected the xenoestrogen o, p'-DDT into the egg yolks of medaka at fertilization to parallel the maternal transfer of lipophilic contaminants to the embryo. At 10 weeks of age, microinjected medaka were examined for mortality and sex reversal. A calculated embryonic dose of 511 +/- 22 ng/egg o, p'-DDT (mean +/- standard error) resulted in 50% mortality. An embryonic exposure of 227 +/- 22 ng/egg o, p'-DDT resulted in 86% (6 of 7) sex reversal of genetic males to a female phenotype (XY females). XY females were distinguished by sex-linked male pigmentation accompanying female secondary sexual characteristics. Histologic examination of the gonads confirmed active ovaries in 100% of the XY females. In 10-day breeding trials in which XY females were paired with normal XY males, 50% of the XY females produced fertilized embryos; this represents a comparable breeding success rate to normal XX females. Fertilized eggs produced from XY females hatched to viable larvae. These results clearly indicate that a weakly estrogenic pesticide, o, p'-DDT, when presented during the critical period of gonadal development, can profoundly alter sexual differentiation. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 PMID:10706527

  13. Phenotypic plasticity of male Schistosoma mansoni from the peritoneal cavity and hepatic portal system of laboratory mice and hamsters.

    PubMed

    Mati, V L T; Freitas, R M; Bicalho, R S; Melo, A L

    2015-05-01

    Morphometric analysis of Schistosoma mansoni male worms obtained from AKR/J and Swiss mice was carried out. Rodents infected by the intraperitoneal route with 80 cercariae of the schistosome (LE strain) were killed by cervical dislocation at 45 and 60 days post-infection and both peritoneal lavage and perfusion of the portal system were performed for the recovery of adult worms. Characteristics including total body length, the distance between oral and ventral suckers, extension of testicular mass and the number of testes were considered in the morphological analysis. Changes that occurred in S. mansoni recovered from the peritoneal cavity or from the portal system of AKR/J and Swiss mice included total body length and reproductive characteristics. Significant morphometric alterations were also observed when worms recovered from the portal system of both strains of mice were compared with the schistosomes obtained from hamsters (Mesocricetus auratus), the vertebrate host in which the LE strain had been adapted and maintained by successive passages for more than four decades. The present results reinforce the idea that S. mansoni has high plastic potential and adaptive capacity. PMID:24572281

  14. Ontogenic and morphological study of gonadal formation in genetically-modified sex reversal XYPOS mice.

    PubMed

    Umemura, Yuria; Miyamoto, Ryosuke; Hashimoto, Rie; Kinoshita, Kyoko; Omotehara, Takuya; Nagahara, Daichi; Hirano, Tetsushi; Kubota, Naoto; Minami, Kiichi; Yanai, Shogo; Masuda, Natsumi; Yuasa, Hideto; Mantani, Youhei; Matsuo, Eiko; Yokoyama, Toshifumi; Kitagawa, Hiroshi; Hoshi, Nobuhiko

    2016-01-01

    Mammalian sexual fate is determined by the presence or absence of sex determining region of the Y chromosome (Sry) in the "bipotential" gonads. Recent studies have demonstrated that both male and female sexual development are induced by distinct and active genetic pathways. Breeding the Y chromosome from Mus m. domesticus poschiavinus (POS) strains into C57BL/6J (B6J) mice (B6J-XYPOS) has been shown to induce sex reversal (75%: bilateral ovary, 25%: true hermaphrodites). However, our B6N-XYPOS mice, which were generated by backcrossing of B6J-XYPOS on an inbred B6N-XX, develop as males (36%: bilateral testis with fertility as well as bilateral ovary (34%), and the remainder develop as true hermaphrodites. Here, we investigated in detail the expressions of essential sex-related genes and histological features in B6N-XYPOS mice from the fetal period to adulthood. The onsets of both Sry and SRY-box 9 (Sox9) expressions as determined spatiotemporally by whole-mount immunohistochemistry in the B6N-XYPOS gonads occurred 2-3 tail somites later than those in B6N-XYB6 gonads, but earlier than those in B6J-XYPOS, respectively. It is possible that such a small difference in timing of the Sry expression underlies testicular development in our B6N-XYPOS. Our study is the first to histologically show the expression and ectopic localization of a female-related gene in the XYPOS testes and a male-related gene in the XYPOS ovaries. The results from these and previous experiments indicate that the interplay between genome variants, epigenetics and developmental gene regulation is crucial for testis development. PMID:26194606

  15. X-Linked Retinoschisis: RS1 Mutation Severity and Age Affect the ERG Phenotype in a Cohort of 68 Affected Male Subjects

    PubMed Central

    Bowles, Kristen; Cukras, Catherine; Turriff, Amy; Sergeev, Yuri; Vitale, Susan; Bush, Ronald A.

    2011-01-01

    Purpose. To assess the effect of age and RS1 mutation on the phenotype of X-linked retinoschisis (XLRS) subjects using the clinical electroretinogram (ERG) in a cross-sectional analysis. Methods. Sixty-eight XLRS males 4.5 to 55 years of age underwent genotyping, and the retinoschisis (RS1) mutations were classified as less severe (27 subjects) or more severe (41 subjects) based on the putative impact on the protein. ERG parameters of retinal function were analyzed by putative mutation severity with age as a continuous variable. Results. The a-wave amplitude remained greater than the lower limit of normal (mean, ?2 SD) for 72% of XLRS males and correlated with neither age nor mutation class. However, b-wave and b/a-ratio amplitudes were significantly lower in the more severe than in the less severe mutation groups and in older than in younger subjects. Subjects up to 10 years of age with more severe RS1 mutations had significantly greater b-wave amplitudes and faster a-wave trough implicit times than older subjects in this group. Conclusions. RS1 mutation putative severity and age both had significant effects on retinal function in XLRS only in the severe mutation group, as judged by ERG analysis of the b-wave amplitude and the b/a-ratio, whereas the a-wave amplitude remained normal in most. A new observation was that increasing age (limited to those aged 55 and younger) caused a significant delay in XLRS b-wave onset (i.e., a-wave implicit time), even for those who retained considerable b-wave amplitudes. The delayed b-wave onset suggested that dysfunction of the photoreceptor synapse or of bipolar cells increases with age of XLRS subjects. PMID:22039241

  16. Spastic paraplegia, optic atrophy, microcephaly with normal intelligence, and XY sex reversal: a new autosomal recessive syndrome?

    PubMed Central

    Teebi, A S; Miller, S; Ostrer, H; Eydoux, P; Colomb-Brockmann, C; Oudjhane, K; Watters, G

    1998-01-01

    Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY female showed normal female external genitalia, normal uterus and tubes, and streak gonads. SRY gene sequencing was normal. We conclude that the present family probably represents a new autosomal recessive trait of pleiotropic effects including XY sex reversal and adds further evidence for the heterogeneity of spastic paraplegia syndromes as well as sex reversal syndromes. Images PMID:9733035

  17. Heritability and Y-chromosome influence in the jack male life history of chinook salmon (Oncorhynchus tshawytscha).

    PubMed

    Heath, D D; Rankin, L; Bryden, C A; Heath, J W; Shrimpton, J M

    2002-10-01

    Jacking in chinook salmon (Oncorhynchus tshawytscha) is an alternative reproductive strategy in which males sexually mature at least 1 year before other members of their year class. We characterize the genetic component of this reproductive strategy using two approaches; hormonal phenotypic sex manipulation, and a half-sib breeding experiment. We 'masculinized' chinook salmon larvae with testosterone, reared them to first maturation, identified jacks and immature males based on phenotype, and genotyped all fish as male ('XY') or female ('XX') using PCR-based Y-chromosome markers. The XY males had a much higher incidence of jacking than the XX males (30.8% vs 9.9%). There was no difference in body weight, gonad weight, and plasma concentrations of testosterone and 17beta-estradiol between the two jack genotypes, although XY jacks did have a higher gonadosomatic index (GSI) than XX jacks. In the second experiment, we bred chinook salmon in two modified half-sib mating designs, and scored the number of jacks and immature fish at first maturation. Heritability of jacking was estimated using two ANOVA models: dams nested within sires, and sires nested within dams with one-half of the half-sib families common to the two models. The sire component of the additive genetic variance yielded a high heritability estimate and was significantly higher than the dam component (h(2)(sire) = 0.62 +/- 0.21; h(2)(dam) = -0.14 +/- 0.12). Our experiments both indicated a strong sex-linked component (Y-chromosome) to jacking in chinook salmon, although evidence for at least some autosomal contribution was also observed. PMID:12242648

  18. Coordinated X-Y stage apparatus

    DOEpatents

    Morimoto, Alan K. (Albuquerque, NM); Kozlowski, David M. (Albuquerque, NM); Charles, Steven T. (Germantown, TN); Spalding, James A. (Springfield, KY)

    2000-01-01

    An apparatus based on precision X-Y stages that are stacked. Attached to arms projecting from each X-Y stage are a set of two axis gimbals. Attached to the gimbals is a rod, which provides motion along the axis of the rod and rotation around its axis. A dual-planar apparatus that provides six degrees of freedom of motion precise to within microns of motion.

  19. Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes

    SciTech Connect

    Torres, L.; Cervantes, A.; Kofman-Alfaro, S.

    1996-05-17

    True hermaphroditism is characterized by the development of ovarian and testicular tissue in the same individual. Muellerian and Wolffian structures are usually present, and external genitalia are often ambiguous. The most frequent karyotype in these patients is 46,XX or various forms of mosaicism, whereas 46,XY is very rarely found. The phenotype in all these subjects is similar. We studied 10 true hermaphrodites. Six of them had a 46,XX chromosomal complement: 3 had been reared as males and 3 as females. The other 4 patients were mosaics: 3 were 46,XX/46,XY and one had a 46,XX/47,XXY karyotype. One of the 46,XX/46,XY mosaics was reared as a female, whereas the other 3 mosaics were reared as males. The sex of assignment in the 10 patients depended only on labio-scrotal differentiation. Molecular studies in 46,XX subjects documented the absence of Y centromeric sequences in all cases, arguing against hidden mosaicism. One patient presented Yp sequences (ZFY+, SRY+), which contrast with South African black 46,XX true hermaphrodites in whom no Y sequences were found. Molecular analysis in the subjects with mosaicism demonstrated the presence of Y centromeric and Yp sequences confirming the presence of a Y chromosome. Gonadal development, endocrine function, and phenotype in the 10 patients did not correlate with the presence of a Y chromosome or Y-derived sequences in the genome, confirming that true hermaphroditism is a heterogeneous condition. Both Mexican and non-South African 46,XX true hermaphrodites may be SRY positive. 51 refs., 3 figs., 2 tabs.

  20. Equivalence between XY and dimerized models

    SciTech Connect

    Campos Venuti, Lorenzo; Roncaglia, Marco

    2010-06-15

    The spin-1/2 chain with XY anisotropic coupling in the plane and the XX isotropic dimerized chain are shown to be equivalent in the bulk. For finite systems, we prove that the equivalence is exact in given parity sectors, after taking care of the precise boundary conditions. The proof is given constructively by finding unitary transformations that map the models onto each other. Moreover, we considerably generalized our mapping and showed that even in the case of fully site-dependent couplings the XY chain can be mapped onto an XX model. This result has potential application in the study of disordered systems.

  1. Reversing song behavior phenotype: Testosterone driven induction of singing and measures of song quality in adult male and female canaries (Serinus canaria).

    PubMed

    Madison, Farrah N; Rouse, Melvin L; Balthazart, Jacques; Ball, Gregory F

    2015-05-01

    In songbirds, such as canaries (Serinus canaria), the song control circuit has been shown to undergo a remarkable change in morphology in response to exogenous testosterone (T). It is also well established that HVC, a telencephalic nucleus involved in song production, is significantly larger in males than in females. T regulates seasonal changes in HVC volume in males, and exposure to exogenous T in adult females increases HVC volume and singing activity such that their song becomes more male-like in frequency and structure. However, whether there are sex differences in the ability of T to modulate changes in the song system and song behavior has not been investigated in canaries. In this study, we compared the effects of increasing doses of T on singing and song control nuclei volumes in adult male and female American Singer canaries exposed to identical environmental conditions. Males were castrated and all birds were placed on short days (8L:16D) for 8 weeks. Males and females were implanted either with a 2, 6 or 12 mm long Silastic™ implant filled with crystalline T or an empty 12 mm implant as control. Birds were then housed individually in sound-attenuated chambers. Brains were collected from six birds from each group after 1 week or 3 weeks of treatment. Testosterone was not equally effective in increasing singing activity in both males and females. Changes in song quality and occurrence rate took place after a shorter latency in males than in females; however, females did undergo marked changes in a number of measures of song behavior if given sufficient time. Males responded with an increase in HVC volume at all three doses. In females, T-induced changes in HVC volume only had limited amplitude and these volumes never reached male-typical levels, suggesting that there are sex differences in the neural substrate that responds to T. PMID:25260250

  2. A Simple X-Y Scanner.

    ERIC Educational Resources Information Center

    Halse, M. R.; Hudson, W. J.

    1986-01-01

    Describes an X-Y scanner used to create acoustic holograms. Scanner is computer controlled and can be adapted to digitize pictures. Scanner geometry is discussed. An appendix gives equipment details. The control program in ATOM BASIC and 6502 machine code is available from the authors. (JM)

  3. Comparative Transcriptome Analysis of Differentially Expressed Genes and Signaling Pathways between XY and YY Testis in Yellow Catfish

    PubMed Central

    Wu, Junjie; Xiong, Shuting; Jing, Jing; Chen, Xin; Wang, Weimin; Gui, Jian-Fang; Mei, Jie

    2015-01-01

    YY super-males have rarely been detected in nature and only been artificially created in some fish species including tilapia and yellow catfish (Pelteobagrusfulvidraco), which provides a promising model for testis development and spermatogenesis. In our previous study, significant differences in morphology and miRNA expression were detected between XY and YY testis of yellow catfish. Here, solexa sequencing technology was further performed to compare mRNA expression between XY and YY testis. Compared with unigenes expressed in XY testis, 1146 and 1235 unigenes have significantly higher and lower expression in YY testis, respectively. 605 differentially expressed unigenes were annotated to 1604 GO terms with 319 and 286 genes having relative higher expression in XY and YY testis. KEGG analysis suggested different levels of PI3K-AKT and G protein-coupled receptor (GPCR) signaling pathways between XY and YY testis. Down-regulation of miR-141/429 in YY testis was speculated to promote testis development and maturation, and several factors in PI3K-AKT and GPCR signaling pathways were found as predicted targets of miR-141/429, several of which were confirmed by dual-luciferase reporter assays. Our study provides a comparative transcriptome analysis between XY and YY testis, and reveals interactions between miRNAs and their target genes that are possibly involved in regulating testis development and spermatogenesis. PMID:26241040

  4. InXy and SeXy, compact heterologous reporter proteins for mammalian cells.

    PubMed

    Fluri, David A; Kelm, Jens M; Lesage, Guillaume; Baba, Marie Daoud-El; Fussenegger, Martin

    2007-10-15

    Mammalian reporter proteins are essential for gene-function analysis, drugscreening initiatives and as model product proteins for biopharmaceutical manufacturing. Bacillus subtilis can maintain its metabolism by secreting Xylanase A (XynA), which converts xylan into shorter xylose oligosaccharides. XynA is a family 11 xylanase monospecific for D-xylose containing substrates. Mammalian cells transgenic for constitutive expression of wild-type xynA showed substantial secretion of this prokaryotic enzyme. Deletion analysis confirmed that a prokaryotic signal sequence encoded within the first 81 nucleotides was compatible with the secretory pathway of mammalian cells. Codon optimization combined with elimination of the prokaryotic signal sequence resulted in an exclusively intracellular mammalian Xylanase A variant (InXy) while replacement by an immunoglobulin-derived secretion signal created an optimal secreted Xylanase A derivative (SeXy). A variety of chromogenic and fluorescence-based assays adapted for use with mammalian cells detected InXy and SeXy with high sensitivity and showed that both reporter proteins resisted repeated freeze/thaw cycles, remained active over wide temperature and pH ranges, were extremely stable in human serum stored at room temperature and could independently be quantified in samples also containing other prominent reporter proteins such as the human placental alkaline phosphatase (SEAP) and the Bacillus stearothermophilus-derived secreted alpha-amylase (SAMY). Glycoprofiling revealed that SeXy produced in mammalian cells was N- glycosylated at four different sites, mutation of which resulted in impaired secretion. SeXy was successfully expressed in a variety of mammalian cell lines and primary cells following transient transfection and transduction with adeno-associated virus particles (AAV) engineered for constitutive SeXy expression. Intramuscular injection of transgenic AAVs into mice showed significant SeXy levels in the bloodstream. InXy and SeXy are highly sensitive, compact and robust reporter proteins, fully compatible with pre-existing marker genes and can be assayed in high-throughput formats using very small sample volumes. PMID:17461419

  5. Entropic fluctuations of XY quantum spin chains

    E-print Network

    Benjamin Landon

    2015-03-08

    We consider an XY quantum spin chain that consists of a left, center and right part initially at thermal equilibrium at temperatures $T_l$, $T_c$, and $T_r$, respectively. The left and right systems are infinitely extended thermal reservoirs and the central system is a small quantum system linking these two reservoirs. If there is a temperature differential, then heat and entropy will flow from one part of the chain to the other. We consider the Evans-Searles and Gallavotti-Cohen functionals which describe the fluctuations of this flux with respect to the initial state of the system and the non-equilibrium steady state reached by the system in the large time limit. We also define the full counting statistics for the XY chain and consider the associated entropic functional, as well a natural class of functionals that interpolate between the full counting statistics functional and the direct quantization of the variational characterization of the Evans-Searles functional which appears in classical non-equilibrium statistical mechanics. The Jordan-Wigner transformation associates a free Fermi gas and Jacobi matrix to our XY chain. Using this representation we are able to compute the entropic functionals in the large time limit in terms of the scattering data of the underlying Jacobi matrix. We show that the Gallavotti-Cohen and Evans-Searles functionals are identical in this limit. Furthermore, we show that all of these entropic functionals are equal in the large time limit if and only if the underlying Jacobi matrix is reflectionless.

  6. Entanglement Dynamics of Disordered Quantum XY Chains

    E-print Network

    Houssam Abdul-Rahman; Bruno Nachtergaele; Robert Sims; Günter Stolz

    2015-10-01

    We consider the dynamics of the quantum XY chain with disorder under the general assumption that the expectation of the eigenfunction correlator of the associated one-particle Hamiltonian satisfies a decay estimate typical of Anderson localization. We show that, starting from a broad class of product initial states, entanglement remains bounded for all times. For the XX chain, we also derive bounds on the particle transport which, in particular, show that the density profile of initial states that consist of fully occupied and empty intervals, only have significant dynamics near the edges of those intervals, uniformly for all times.

  7. Nonlocality and entanglement in the XY model

    SciTech Connect

    Batle, J.; Casas, M.

    2010-12-15

    Nonlocality and quantum entanglement constitute two special features of quantum systems of paramount importance in quantum-information theory (QIT). Essentially regarded as identical or equivalent for many years, they constitute different concepts. Describing nonlocality by means of the maximal violation of two Bell inequalities, we study both entanglement and nonlocality for two and three spins in the XY model. Our results shed light on the description of nonlocality and the possible information-theoretic task limitations of entanglement in an infinite quantum system.

  8. Mutation of Gonadal soma-derived factor induces medaka XY gonads to undergo ovarian development.

    PubMed

    Imai, Takuto; Saino, Kentaro; Matsuda, Masaru

    2015-11-01

    Gonochoristic species have a bipotential gonad that develops into a testis or an ovary. In species whose sex is determined by a genetic factor, the expression of a sex-determining gene is the first cue that directs the development of a bipotential gonad. Subsequent expression of downstream genes induces the gonad to develop into a testis or an ovary. The TGF-ß family member Gonadal soma-derived factor (Gsdf) is thought to be an important gene for gonadal development in teleost fish, and it is expressed at higher levels in the testis than in the ovary from early to mature stages. However, there is little functional information about the gene. In this study, we targeted the Gsdf coding region in the medaka fish Oryzias latipes using transcription activator-like effector nucleases (TALENs) and studied the phenotypes of the Gsdf mutant medaka. Although normal and heterozygous XY gonads developed into a testis, all XY gonads with a homozygous mutation in Gsdf developed into an ovary at early developmental stages. However, two-thirds of Gsdf mutant XY gonads developed into testes in the adult stages. These results demonstrate that although a gonad can develop into a complete testis in the absence of Gsdf, Gsdf function is critical for directing the bipotential gonad at early developmental stages. Therefore, Gsdf is an endogenous inducer of testicular development similar to a master sex-determining gene. PMID:26408909

  9. A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.

    PubMed Central

    Evans, B A; Bowen, D J; Smith, P J; Clayton, P E; Gregory, J W

    1996-01-01

    Genomic DNA from two families with male limited precocious puberty was examined for mutations of the LH receptor gene. In family 1, several members of the pedigree have FMPP, whereas in family 2 there is only one affected subject. A point mutation (T --> C at nucleotide 1192) resulting in substitution of threonine for methionine 398 in the second transmembrane domain of the LH receptor protein was found in both families. In addition, one member of family 1 has the mutation, but no evidence of precocious puberty. All obligate carriers within this family were shown to have the mutation, and it was not detected in 94 chromosomes from unaffected and unrelated white subjects. In family 2, the index case was the only one to have the mutation. A previously unreported neutral dimorphism (C --> T at nucleotide 1065) is also described. Images PMID:8929952

  10. An assessment of sex chromosome copy number in a phenotypic female patient with hypergonadtropic hypogonadism, primary amenorrhea and growth retardation by GTG-banding and FISH in peripheral blood and skin tissues

    SciTech Connect

    Jackson, I.M.D.; DeMoranville, B.; Grollino, M.G.

    1994-09-01

    The present report describes studies performed on an 18-year-old phenotypic female referred because of primary amenorrhea, hypergonadotropic hypoganadism and growth retardation. The clinical features raised the possibility of a gonadal dysgenesis. The ovaries were not identified on either side. Her testosterone was significantly elevated, with serum level at 48 ng/dl, and her free testosterone at 7 pg/ml. A GTG-banding analysis of 33 peripheral blood leukocytes revealed the modal number of chromosomes to be 46 per cell with a male sex constitution and normal appearing banding patterns (46,XY). In view of the clinical findings, additional cells were scored to rule out low percentage mosaicism. Out of 35 additional GTG-banded cells scored for the sex chromosomes, 4 cells (11.5%) were found to contain only one copy of the X chromosome. Fluorescent in situ hybridization (FISH) using dual color biotinylated X and Y probes (Imagenetics) was subsequently performed. Out of approximately 500 cells scored, 87% were found to be XY and 9% were found to be positive for the X signal only, versus 7% and 3% X signal only for 2 XY controls, aged 61 and 46, respectively. As loss of the Y chromosome has been reported in elderly males as well as certain males with leukemia, the age of the controls was important to note. To unequivocally establish the presence of mosaicism, a skin biopsy was obtained for fibroblast culture. Out of 388 total cells scored, 286 (74%) were found to be XY and 46 (12%) were found to be X, versus 99% XY and <1% X in controls. GTG-banding analysis of the same fibroblast culture is currently in progress. Preliminary data on this specimen thus far corroborate results of the FISH study. The presence of XY cells, along with an increased testosterone level, raises the distinct possibility of a gonadoblastoma. In view of this increased risk, arrangements are being made for the patient to have a laparoscopy and surgical removal of her presumptive streak gonads.

  11. Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

    PubMed Central

    Lionel, Anath C.; Tammimies, Kristiina; Vaags, Andrea K.; Rosenfeld, Jill A.; Ahn, Joo Wook; Merico, Daniele; Noor, Abdul; Runke, Cassandra K.; Pillalamarri, Vamsee K.; Carter, Melissa T.; Gazzellone, Matthew J.; Thiruvahindrapuram, Bhooma; Fagerberg, Christina; Laulund, Lone W.; Pellecchia, Giovanna; Lamoureux, Sylvia; Deshpande, Charu; Clayton-Smith, Jill; White, Ann C.; Leather, Susan; Trounce, John; Melanie Bedford, H.; Hatchwell, Eli; Eis, Peggy S.; Yuen, Ryan K.C.; Walker, Susan; Uddin, Mohammed; Geraghty, Michael T.; Nikkel, Sarah M.; Tomiak, Eva M.; Fernandez, Bridget A.; Soreni, Noam; Crosbie, Jennifer; Arnold, Paul D.; Schachar, Russell J.; Roberts, Wendy; Paterson, Andrew D.; So, Joyce; Szatmari, Peter; Chrysler, Christina; Woodbury-Smith, Marc; Brian Lowry, R.; Zwaigenbaum, Lonnie; Mandyam, Divya; Wei, John; MacDonald, Jeffrey R.; Howe, Jennifer L.; Nalpathamkalam, Thomas; Wang, Zhuozhi; Tolson, Daniel; Cobb, David S.; Wilks, Timothy M.; Sorensen, Mark J.; Bader, Patricia I.; An, Yu; Wu, Bai-Lin; Musumeci, Sebastiano Antonino; Romano, Corrado; Postorivo, Diana; Nardone, Anna M.; Monica, Matteo Della; Scarano, Gioacchino; Zoccante, Leonardo; Novara, Francesca; Zuffardi, Orsetta; Ciccone, Roberto; Antona, Vincenzo; Carella, Massimo; Zelante, Leopoldo; Cavalli, Pietro; Poggiani, Carlo; Cavallari, Ugo; Argiropoulos, Bob; Chernos, Judy; Brasch-Andersen, Charlotte; Speevak, Marsha; Fichera, Marco; Ogilvie, Caroline Mackie; Shen, Yiping; Hodge, Jennelle C.; Talkowski, Michael E.; Stavropoulos, Dimitri J.; Marshall, Christian R.; Scherer, Stephen W.

    2014-01-01

    Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions of ASTN1 were much rarer. Deletions near the 3? terminus of ASTN2, which would disrupt all transcript isoforms (a subset of these deletions also included TRIM32), were significantly enriched in the NDD subjects (P = 0.002) compared with 44 085 population-based controls. Frequent phenotypes observed in individuals with such deletions include autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), speech delay, anxiety and obsessive compulsive disorder (OCD). The 3?-terminal ASTN2 deletions were significantly enriched compared with controls in males with NDDs, but not in females. Upon quantifying ASTN2 human brain RNA, we observed shorter isoforms expressed from an alternative transcription start site of recent evolutionary origin near the 3? end. Spatiotemporal expression profiling in the human brain revealed consistently high ASTN1 expression while ASTN2 expression peaked in the early embryonic neocortex and postnatal cerebellar cortex. Our findings shed new light on the role of the astrotactins in psychopathology and their interplay in human neurodevelopment. PMID:24381304

  12. Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient.

    PubMed

    Olszewska, Marta; Wanowska, Elzbieta; Kishore, Archana; Huleyuk, Nataliya; Georgiadis, Andrew P; Yatsenko, Alexander N; Mikula, Mariya; Zastavna, Danuta; Wiland, Ewa; Kurpisz, Maciej

    2015-01-01

    Chromosomes occupy specific distinct areas in the nucleus of the sperm cell that may be altered in males with disrupted spermatogenesis. Here, we present alterations in the positioning of the human chromosomes 15, 18, X and Y between spermatozoa with the small supernumerary marker chromosome (sSMC; sSMC(+)) and spermatozoa with normal chromosome complement (sSMC(-)), for the first time described in the same ejaculate of an infertile, phenotypically normal male patient. Using classical and confocal fluorescent microscopy, the nuclear colocalization of chromosomes 15 and sSMC was analyzed. The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat. Analysis of meiotic segregation showed a 1:1 ratio of sSMC(+) to sSMC(-) spermatozoa, while evaluation of sperm aneuploidy status indicated an increased level of chromosome 13, 18, 21 and 22 disomy, up to 7?×?(2.7?-?15.1). Sperm chromatin integrity assessment did not reveal any increase in deprotamination in the patient's sperm chromatin. Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC. This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient. PMID:26616419

  13. Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient

    PubMed Central

    Olszewska, Marta; Wanowska, Elzbieta; Kishore, Archana; Huleyuk, Nataliya; Georgiadis, Andrew P.; Yatsenko, Alexander N.; Mikula, Mariya; Zastavna, Danuta; Wiland, Ewa; Kurpisz, Maciej

    2015-01-01

    Chromosomes occupy specific distinct areas in the nucleus of the sperm cell that may be altered in males with disrupted spermatogenesis. Here, we present alterations in the positioning of the human chromosomes 15, 18, X and Y between spermatozoa with the small supernumerary marker chromosome (sSMC; sSMC+) and spermatozoa with normal chromosome complement (sSMC?), for the first time described in the same ejaculate of an infertile, phenotypically normal male patient. Using classical and confocal fluorescent microscopy, the nuclear colocalization of chromosomes 15 and sSMC was analyzed. The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat. Analysis of meiotic segregation showed a 1:1 ratio of sSMC+ to sSMC? spermatozoa, while evaluation of sperm aneuploidy status indicated an increased level of chromosome 13, 18, 21 and 22 disomy, up to 7?×?(2.7???15.1). Sperm chromatin integrity assessment did not reveal any increase in deprotamination in the patient’s sperm chromatin. Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC. This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient. PMID:26616419

  14. Automated edge finishing using an active XY table

    DOEpatents

    Loucks, Clifford S. (Cedar Crest, NM); Starr, Gregory P. (Albuquerque, NM)

    1993-01-01

    The disclosure is directed to an apparatus and method for automated edge finishing using hybrid position/force control of an XY table. The disclosure is particularly directed to learning the trajectory of the edge of a workpiece by "guarded moves". Machining is done by controllably moving the XY table, with the workpiece mounted thereon, along the learned trajectory with feedback from a force sensor. Other similar workpieces can be mounted, without a fixture on the XY table, located and the learned trajectory adjusted

  15. Synthesis and analysis of parallel Kinematic XY flexure mechanisms

    E-print Network

    Awtar, Shorya, 1977-

    2004-01-01

    This thesis presents a family of XY flexure mechanisms with large ranges of motion, first-order decoupled degrees of freedom, and small parasitic error motions. Synthesis is based on an systematic and symmetric layout of ...

  16. The XY Gene Hypothesis of Psychosis: Origins and Current Status

    PubMed Central

    Crow, Timothy J

    2013-01-01

    Sex differences in psychosis and their interaction with laterality (systematic departures from 50:50 left-right symmetry across the antero-posterior neural axis) are reviewed in the context of the X-Y gene hypothesis. Aspects of laterality (handedness/cerebral asymmetry/the torque) predict (1) verbal and non-verbal ability in childhood and across adult life and (2) anatomical, physiological, and linguistic variation relating to psychosis. Neuropsychological and MRI evidence from individuals with sex chromosome aneuploidies indicates that laterality is associated with an X-Y homologous gene pair. Within each mammalian species the complement of such X-Y gene pairs reflects their potential to account for taxon-specific sexual dimorphisms. As a consequence of the mechanism of meiotic suppression of unpaired chromosomes such X-Y gene pairs generate epigenetic variation around a species defining motif that is carried to the zygote with potential to initiate embryonic gene expression in XX or XY format. The Protocadherin11XY (PCDH11XY) gene pair in Xq21.3/Yp11.2 in probable coordination with a gene or genes within PAR2 (the second pseudo-autosomal region) is the prime candidate in relation to cerebral asymmetry and psychosis in Homo sapiens. The lately-described pattern of sequence variation associated with psychosis on the autosomes may reflect a component of the human genome's adjustment to selective pressures generated by the sexually dimorphic mate recognition system. © 2013 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by John Wiley and Sons, Ltd. PMID:24123874

  17. How Many Non-coding RNAs Does It Take to Compensate Male/Female Genetic Imbalance?

    PubMed

    Ouimette, Jean-François; Rougeulle, Claire

    2016-01-01

    Genetic sex determination in mammals relies on dimorphic sex chromosomes that confer phenotypic/physiologic differences between males and females. In this heterogametic system, X and Y chromosomes diverged from an ancestral pair of autosomes, creating a genetic disequilibrium between XX females and XY males. Dosage compensation mechanisms alleviate intrinsic gene dosage imbalance, leading to equal expression levels of most X-linked genes in the two sexes. In therian mammals, this is achieved through inactivation of one of the two X chromosomes in females. Failure to undergo X-chromosome inactivation (XCI) results in developmental arrest and death. Although fundamental for survival, a surprising loose conservation in the mechanisms to achieve XCI during development in therian lineage has been, and continues, to be uncovered. XCI involves the concerted action of non-coding RNAs (ncRNAs), including the well-known Xist RNA, and has thus become a classical paradigm to study the mode of action of this particular class of transcripts. In this chapter, we will describe the processes coping with sex chromosome genetic imbalance and how ncRNAs underlie dosage compensation mechanisms and influence male-female differences in mammals. Moreover, we will discuss how ncRNAs have been tinkered with during therian evolution to adapt XCI mechanistic to species-specific constraints. PMID:26659486

  18. De novo interstitial deletions of 9q22.1-22.3 in two unrelated cases with different phenotype

    SciTech Connect

    Mohamed, A.N.; Bawle, E.; Conard, J.

    1994-09-01

    Deletions involving the long arm of chromosome 9 are rare. A recent review, particularly with deletions of 9q22-32 region, failed to recognize a distinct pattern of dysmorphies and malformations. Herein, we described two phenotypically abnormal unrelated cases with interstitial deletion of chromosome 9 at band q22.1-q22.3. Parents of both cases exhibited normal karyotypes, indicating that the deletions were de novo events. Therefore, the clinical features present in these two cases can be attributed to partial monosomy for the deleted band 9q22. The first case was a 2-day-old baby with ambiguous genitalia, hydrocephalus, cleft palate and lip, polycystic kidney, absence of uterus on ultrasound and one gonad in the labiosacral region. Chromosome analysis showed a male karyotype, 46,XY,del(9)(q22.1q22.3). The absence of monosomy X cell line and the normal histology of testicular tissue were against the diagnosis of mixed gonadal dysgenesis or XY gonadal dysgenesis. The second 3-day-old newborn baby girl presented with right side hypoplastic heart and pulmonary atresia. In addition, the patient showed multiple dysmorphic features including epicanthal fold, low-set ears, depressed nasal bridge, hypertelorism, and micrognathia. The uvula is absent with slight cleft palate. Bilateral clinodactyly of 5th fingers and severe club feet were also present. The external genitalia was of a normal female phenotype. Chromosome study also indicated interstatial deletion of band 9q22. Although both cases appeared to have the same chromosomal anomalies, neither a discrete facial appearance nor a common pattern of malformations was noted.

  19. Sharing of classical and quantum correlations via XY interaction

    SciTech Connect

    Wang, Jieci; Silva, Jaime; Lanceros-Mendez, Senentxu

    2014-09-15

    The sharing of classical and quantum correlations via XY interaction is investigated. The model includes two identical networks consisting of n nodes, the ith node of one network sharing a correlated state with the jth node of the other network, while all other nodes are initially unconnected. It is shown that classical correlation, quantum discord as well as entanglement can be shared between any two nodes of the network via XY interaction and that quantum information can be transferred effectively between them. It is found that there is no simple dominating relation between the quantum correlation and entanglement in inertial system.

  20. Global quantum discord and quantum phase transition in XY model

    NASA Astrophysics Data System (ADS)

    Liu, Si-Yuan; Zhang, Yu-Ran; Yang, Wen-Li; Fan, Heng

    2015-11-01

    We study the relationship between the behavior of global quantum correlations and quantum phase transitions in XY model. We find that the two kinds of phase transitions in the studied model can be characterized by the features of global quantum discord (GQD) and the corresponding quantum correlations. We demonstrate that the maximum of the sum of all the nearest neighbor bipartite GQDs is effective and accurate for signaling the Ising quantum phase transition, in contrast, the sudden change of GQD is very suitable for characterizing another phase transition in the XY model. This may shed lights on the study of properties of quantum correlations in different quantum phases.

  1. Phase transitions in frustrated two-dimensional XY models

    SciTech Connect

    Teitel, S.; Jayaprakash, C.

    1983-01-01

    We study the fully frustrated XY model on a square lattice with the use of Monte Carlo simulations. We find a phase transition at a finite temperature T/sub I/ with the specific-heat data being consistent with a logarithmic divergence. The helicity modulus UPSILON jumps to zero with a value UPSILON/k/sub B/T> or approx. =2/..pi.. at a T< or approx. =T/sub I/. The application of frustrated XY models to the behavior of coupled Josephson junction arrays is discussed.

  2. Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

    PubMed Central

    Barbaro, Michela; Cook, Jackie; Lagerstedt-Robinson, Kristina; Wedell, Anna

    2012-01-01

    A 160?kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex phenotype. However, few independent cases have recently been described presenting with isolated XY gonadal dysgenesis caused by relatively small NR0B1 locus duplications. We have identified another NR0B1 duplication in two sisters with isolated XY gonadal dysgenesis with an X-linked inheritance pattern. We performed X-inactivation studies in three fertile female carriers of three different small NR0B1 locus duplications identified by our group. The carrier mothers did not show obvious skewing of X-chromosome inactivation, suggesting that NR0B1 overexpression does not impair ovarian function. We furthermore emphasize the importance to investigate the NR0B1 locus also in patients with isolated XY gonadal dysgenesis. PMID:22518125

  3. XY INTERPOLATION A microcomputer can be used to

    E-print Network

    Goldberg, Ken

    XY INTERPOLATION ALGORITHMS A microcomputer can be used to control the motion of numerical con. A microcomputer is an obvious choice to generate and remember the pulses. Since stepper motors can move on- ly cosine values with a microcomputer can be too time-consuming to be useful in a real- time application

  4. On the dynamics of XY spin chains with impurities

    NASA Astrophysics Data System (ADS)

    Genovese, Giuseppe

    2015-09-01

    We provide a theoretical set up for studying the dynamics in quantum spin chain models with inhomogeneous two-body interaction. We frame in our formalism models that can be mapped into fermion systems with quadratic Hamiltonian, namely XY chains with transverse magnetic field. Local and global existence results of the dynamics are discussed.

  5. Renormalization Group Analysis of the Dissipative Quantum-XY Model

    NASA Astrophysics Data System (ADS)

    Hou, Changtao; Aji, Vivek; Varma, Chandra

    2015-03-01

    The action for the dissipative quantum XY model has been transformed into an action for two kinds of topological excitations, vortices and warps, and has been partially analyzed. We continue further analysis of the model to find correspondences with the solution for the phase diagram and the correlation functions of the original model by quantum Monte Carlo calculations.

  6. High resolution whole brain imaging of anatomical variation in XO, XX, and XY mice.

    PubMed

    Raznahan, Armin; Probst, Frank; Palmert, Mark R; Giedd, Jay N; Lerch, Jason P

    2013-12-01

    The capacity of sex to modify behavior in health and illness may stem from biological differences between males and females. One such difference--fundamental to the biological definition of sex--is inequality of X chromosome dosage. Studies of Turner Syndrome (TS) suggest that X-monosomy profoundly alters mammalian brain development. However, use of TS as a model for X chromosome haploinsufficiency is complicated by karyotypic mosaicism, background genetic heterogeneity and ovarian dysgenesis. Therefore, to better isolate X chromosome effects on brain development and identify how these overlap with normative sex differences, we used whole-brain structural imaging to study X-monosomic mice (free of mosaicism and ovarian dysgenesis) alongside their karyotypical normal male and female littermates. We demonstrate that murine X-monosomy (XO) causes (i) accentuation of XX vs XY differences in a set of sexually dimorphic structures including classical foci of sex-hormone action, such as the bed nucleus of the stria terminal and medial amygdala, (ii) parietal and striatal abnormalities that recapitulate those reported TS, and (iii) abnormal development of brain systems relevant for domains of altered cognition and emotion in both murine and human X-monosomy. Our findings suggest an unexpected role for X-linked genes in shaping sexually dimorphic brain development, and an evolutionarily conserved influence of X-linked genes on both cortical and subcortical development in mammals. Furthermore, our murine findings highlight the bed nucleus of the stria terminalis and periaqueductal gray matter as novel neuroanatomical candidates for closer study in TS. Integration of these data with existing genomic knowledge generates a set of novel, testable hypotheses regarding candidate mechanisms for each observed pattern of anatomical variation across XO, XX and XY groups. PMID:23891883

  7. Greig cephalopolysyndactyly syndrome: Altered phenotype of a contiguous gene syndrome by the presence of a chromosomal deletion

    SciTech Connect

    Hersh, J.H.; Williams, P.G.; Yen, F.F.

    1994-09-01

    Greig cephalopolysyndactyly syndrome (GCPS) is characterized by craniofacial anomalies, broad thumbs and halluces, polydactyly of the hands and feet, and variable syndactyly. Intellectual abilities are usually normal. Inheritance is in an autosomal dominant fashion. The disorder has been mapped to chromosome 7p13, suggesting that the condition represents a contiguous gene syndrome (CGS). A male infant presented with multiple congenital anomalies, including omphalocele, dysgenesis of the corpus callosum, hydrocephalus, esotropia, broad thumbs and halluces, syndactyly, polydactyly of one foot, hypotonia and developmental delay. A de novo interstitial deletion of chromosome 7p was detected, 46,XY,del(7)(p13p15). Although clinical findings in this case were reminiscent of GCPS, and the chromosomal abnormality included the region assigned to the candidate gene for this syndrome, additional physical abnormalities were present, as well as cognitive deficits. Some of these features have been previously described in patients with chromosomal deletions of 7p. The chromosomal abnormality in our case provides supportive evidence of the gene locus in GCPS, and that GCPS represents a new CGS. However, a larger deletion, extending beyond the limits of the gene, significantly altered the phenotype. Isolation of the gene responsible for GCPS, and identification of additional patients with chromosomal abnormalities in this region of chromosome 7, should help to provide more accurate genotype-phenotype correlations.

  8. Mosaicism for trisomy 21 and ring (21) in a male born to normal parents: a case report.

    PubMed

    Samarth, Ravindra M; Gandhi, Puneet; Pandey, Hemant; Maudar, Kewal K

    2012-12-10

    We present a case of a ring (21) in a mentally challenged patient with mosaicism for trisomy 21 showing karyotype 47, XY,+21/47,XY,+21(r)/46,XY, born to normal parents. The parents and female sibling were phenotypically normal. This is a unique case report from Central India, on occurrence of trisomy 21 and r (21) in the same individual born to normal parents. Also being documented for the first time is the immuno-FISH analysis revealing differential expression of hTERT and a linked over expression of TRF2 in proband, probably corresponding to a high percentage of acrocentric associations. PMID:23000017

  9. SRY-positive 78, XY ovotesticular disorder of sex development in a wolf cloned by nuclear transfer

    PubMed Central

    Kang, Jung Taek; Kim, Hyung Jin; Oh, Hyun Ju; Hong, So Gun; Park, Jung Eun; Kim, Min Jung; Kim, Min Kyu; Jang, Goo; Kim, Dae Yong

    2012-01-01

    Recently, we reported the three wolves cloning with normal karyotype from somatic cells of endangered male gray wolves (Canis lupus), but one wolf had female external genitalia. In this study, we conducted further clinical, histological, and genetic analyses. This cloned wolf had a normal uterus but developed ovotestis. Through molecular analysis of the SRY gene, a mutation in the coding sequence of SRY gene could be excluded as a cause of intersexuality. This is the first report of a cloned wolf with a 78, XY ovotesticular disorder affecting sexual development characterized by bilateral ovotestes. PMID:22705746

  10. Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

    PubMed Central

    Kalfa, Nicolas; Fukami, Maki; Philibert, Pascal; Audran, Francoise; Pienkowski, Catherine; Weill, Jacques; Pinto, Graziella; Manouvrier, Sylvie; Polak, Michel; Ogata, Totsumo; Sultan, Charles

    2012-01-01

    More than 50% of children with severe 46,XY disorders of sex development (DSD) do not have a definitive etiological diagnosis. Besides gonadal dysgenesis, defects in androgen biosynthesis, and abnormalities in androgen sensitivity, the Mastermind-like domain containing 1 (MAMLD1) gene, which was identified as critical for the development of male genitalia, may be implicated. The present study investigated whether MAMLD1 is implicated in cases of severe 46,XY DSD and whether routine sequencing of MAMLD1 should be performed in these patients. Seventy children with severe non-syndromic 46,XY DSD of unknown etiology were studied. One hundred and fifty healthy individuals were included as controls. Direct sequencing of the MAMLD1, AR, SRD5A2 and NR5A1 genes was performed. The transactivation function of the variant MAMLD1 proteins was quantified by the luciferase method. Two new mutations were identified: p.S143X (c.428C>A) in a patient with scrotal hypospadias with microphallus and p.P384L (c.1151C>T) in a patient with penile hypospadias with microphallus. The in vitro functional study confirmed no residual transactivating function of the p.S143X mutant and a significantly reduced transactivation function of the p.P384L protein (p?=?0.0032). The p.P359S, p.N662S and p.H347Q variants are also reported with particularly high frequency of the p.359T- p.662G haplotype in the DSD patients. Severe undervirilization in XY newborns can reveal mutations of MAMLD1. MAMLD1 should be routinely sequenced in these patients with otherwise normal AR, SRD5A2 and NR5A1genes. PMID:22479329

  11. PERIOD VARIATION AND ASYMMETRY LIGHT CURVES OF XY URSAE MAJORIS

    SciTech Connect

    Yuan Jinzhao

    2010-05-15

    New CCD photometric observations of the chromospherically active binary XY Ursae Majoris (XY UMa) were obtained every year since 2006. The light curves obtained in the late Spring of 2006 show obvious variations on a short timescale, while the light curves obtained in 2008 December do not. But both sets of light curves are markedly asymmetric, and were analyzed using the 2003 version of the Wilson-Devinney code with spot model. New absolute physical parameters are obtained. It is found that the total spotted area on the more massive component covers 7% of the photospheric surface in 2008 December. Fitting all available light minimum times including the newly obtained ones with a sinusoidal ephemeris and a four-part linear ephemeris reveals that the orbital period undergoes quasi-periodic oscillation rather than sinusoidal variations. Between the two mechanisms of magnetic activity and a third body around the eclipsing pair, the former one is more plausible.

  12. Program Aids Creation Of X-Y Plots

    NASA Technical Reports Server (NTRS)

    Jeletic, James F.

    1993-01-01

    VEGAS computer program enables application programmers to create X-Y plots in various modes through high-level subroutine calls. Modes consist of passive, autoupdate, and interactive modes. In passive mode, VEGAS takes input data, produces plot, and returns control to application program. In autoupdate mode, forms plots and automatically updates them as more information received. In interactive mode, displays plot and provides popup menus for user to alter appearance of plot or to modify data. Written in FORTRAN 77.

  13. Male Infertility

    MedlinePLUS

    ... delivers the sperm into the woman's body. The male reproductive system makes, stores, and transports sperm. Chemicals in your body called hormones control this. Sperm and male sex hormone (testosterone) are made in the 2 ...

  14. Counseling Males.

    ERIC Educational Resources Information Center

    Scher, Murray, Ed.

    1981-01-01

    Contains 16 articles about counseling males including: (1) gender role conflict; (2) sex-role development; (3) counseling adolescent, adult, and gay males; (4) teenage fathers; (5) female therapists and male clients; (6) career development; (7) hypermasculinity; (8) counseling physically abusive men, uncoupling men; (9) group therapy, men's…

  15. Testicular dysgenesis syndrome and the development and occurrence of male reproductive disorders

    SciTech Connect

    Virtanen, H.E.; Rajpert-De Meyts, E.; Main, K.M.; Skakkebaek, N.E.; Toppari, J. . E-mail: jorma.toppari@utu.fi

    2005-09-01

    Patients with 45,X0/46XY karyotype often present with intersex phenotype and testicular dysgenesis. These patients may also have undescended testes (cryptorchidism), hypospadias and their spermatogenesis is severely disrupted. They have a high risk for testicular cancer. These patients have the most severe form of testicular dysgenesis syndrome (TDS). We have hypothesized that testicular cancer, cryptorchidism, hypospadias and poor spermatogenesis are all signs of a developmental disturbance that was named as testicular dysgenesis syndrome. The hypothesis is based on clinical and epidemiological findings and on biological and experimental evidence. Signs of TDS share several risk factors, such as small birth weight (particularly being small for gestational age), and they are risk factors for each other. All of them have background in fetal development. They show strong epidemiological links so that countries with high incidence of testicular cancer, such as Denmark, tend to also have high prevalence rates of cryptorchidism and hypospadias and poor semen quality. Vice versa, in countries with good male reproductive health, e.g., in Finland, all these aspects are better than in Denmark. Although genetic abnormalities can cause these disorders, in the majority of cases, the reasons remain unclear. Adverse trends in the incidence of male reproductive disorders suggest that environmental and life style factors contribute to the problem. Endocrine disrupters are considered as prime candidates for environmental influence. Fetal exposure to high doses of dibutyl phthalate was shown to cause a TDS-like phenotype in the rats. Studies are underway to assess whether there is any exposure-outcome relation with selected chemicals (persistent organic pollutants, pesticides, phthalates) and cryptorchidism00.

  16. Agnathia-holoprosencephaly associated with a 46,XY,-21,+t(21q;21q) karyotype

    SciTech Connect

    Niedermeyer, K.K.; McCorquodale, M.M.; Burton, B.K.

    1994-09-01

    We report an unusual case of agnathia-holoprosencephaly associated with Down syndrome due to a 21/21 translocation. The patient presented prenatally at 21 wks gestation. A fetal ultrasound revealed multiple CNS anomalies including hydrocephalus, compressed cerebellum, absent septum pellucidum and possible cranial meningocele or encephalocele. High resolution ultrasound & fetal karyotype were recommended. The patient refused & elected to have a pregnancy termination. Chromosomal analysis performed on products of conception revealed a 46,XY,-21,+t(21q;21q) karyotype. Fluorescence in situ hybridization was performed and confirmed the 21/21 translocation chromosome. An autopsy revealed agnathia and multiple CNS anomalies including absence of the septum pellucidum, absence of the corpus callosum, arhinencephaly, an occiptal meningoencephalocele, dilation of the lateral ventricles, and extensive dysgenesis & heterotopias of the central cerebrum & mid-brain. Additional abnormalities included a persistent left superior vena cava, atrial & ventricular septal defects, irregular length of the fingers with absence of the middle phalanges of the right 2nd and 5th & left 5th digits and bilateral simian creases. Agnathia can be an isolated abnormality but often is associated with holoprosencephaly and/or situs inversus. The majority of familial case of agnathis-holoprosencephaly was caused by an inherited unbalanced translocation resulting in duplication of 6p and monosomy of 18p. Our patient had a translocation form of trisomy 21 but did not have a phenotype consistent with Down syndrome. Trisomy 21 has not been previously reported in other cases of agnathia-holoprosencephaly. Whether the chromosomal abnormality caused the phenotypic abnormalities or if it is a coincidental finding cannot be determined.

  17. Acne in Klinefelter Syndrome-46XY/47XXY Mosaicism?

    PubMed Central

    Lakshmi, Chembolli; Swarnalakshimi, Selvaraj

    2015-01-01

    Klinefelter syndrome (KFS) is the most common non-heritable sex chromosome anomaly caused by nondisjunction during cell division and contains two or more X chromosomes. More than two third of all cases are homogenous (47XXY) and the remaining are mosaic (46XY/47XXY). Lower limb ulcers are frequently observed and attributed to impaired fibrinolysis. A case of KFS with post acne scars and leg ulcers is presented. The rarity of acne in this syndrome is explained by the phenomenon of mosaicism. PMID:26538700

  18. Building mouse phenotype ontologies.

    PubMed

    Gkoutos, G V; Green, E C J; Mallon, A M; Hancock, J M; Davidson, D

    2004-01-01

    The structured description of mutant phenotypes presents a major conceptual and practical problem. A general model for generating mouse phenotype ontologies that involves combing a variety of different ontologies to better link and describe phenotypes is presented. This model is based on the Phenotype and Trait Ontology schema proposal and incorporates practical limitations and designing solutions in an attempt to model a testbed for the first phenotype ontology constructed in this manner, namely the mouse behavior phenotype ontology. We propose the application of such a model could provide curators with a powerful mechanism of annotation, mining and knowledge representation as well as achieving some level of free text disassociation. PMID:14992502

  19. Design and control of a nanoprecision XY Theta scanner.

    PubMed

    Choi, Young-Man; Kim, Jung Jae; Kim, Jinwoo; Gweon, Dae-Gab

    2008-04-01

    This paper describes the design and control of a nanoprecision XY Theta scanner consisting of voice coil motors and air bearing guides. The proposed scanner can be installed on a conventional XY stage with long strokes to improve the positioning accuracy and settling performance. Major design considerations in developing a high precision scanner are sensor accuracy, actuator properties, structural stability, guide friction, and thermal expansion. Considering these factors, the proposed scanner is made of invar, which has a small thermal expansion coefficient and good structural stiffness. Four voice coil motors drive the scanner, which is suspended by four air bearing pads, in the x, y, and theta directions. The scanner's position is measured by three laser interferometers which decouple the scanner from the conventional stage. The mirror blocks reflecting the laser beams are fixed using viscoelastic sheets, ensuring that the scanner has a well-damped structural mode. A time delay control algorithm is implemented on the real-time controller to control the scanner. The effectiveness of the proposed scanner is verified experimentally. PMID:18447554

  20. Avalanches and hysteresis in frustrated superconductors and XY spin glasses.

    PubMed

    Sharma, Auditya; Andreanov, Alexei; Müller, Markus

    2014-10-01

    We study avalanches along the hysteresis loop of long-range interacting spin glasses with continuous XY symmetry, which serves as a toy model of granular superconductors with long-range and frustrated Josephson couplings. We identify sudden jumps in the T=0 configurations of the XY phases as an external field is increased. They are initiated by the softest mode of the inverse susceptibility matrix becoming unstable, which induces an avalanche of phase updates (or spin alignments). We analyze the statistics of these events and study the correlation between the nonlinear avalanches and the soft mode that initiates them. We find that the avalanches follow the directions of a small fraction of the softest modes of the inverse susceptibility matrix, similarly as was found in avalanches in jammed systems. In contrast to the similar Ising spin glass (Sherrington-Kirkpatrick) studied previously, we find that avalanches are not distributed with a scale-free power law but rather have a typical size which scales with the system size. We also observe that the Hessians of the spin-glass minima are not part of standard random matrix ensembles as the lowest eigenvector has a fractal support. PMID:25375434

  1. Condoms - male

    MedlinePLUS

    Prophylactics; Rubbers; Male condoms; Contraceptive-condom; Contraception-condom; Barrier method-condom ... not protect against the spread of infections.) Latex rubber Polyurethane Condoms are the only method of birth ...

  2. Out of Equilibrium Solutions in the $XY$-Hamiltonian Mean Field model

    E-print Network

    Xavier Leoncini; Tineke L. Van Den Berg; Duccio Fanelli

    2009-04-30

    Out of equilibrium magnetised solutions of the $XY$-Hamiltonian Mean Field ($XY$-HMF) model are build using an ensemble of integrable uncoupled pendula. Using these solutions we display an out-of equilibrium phase transition using a specific reduced set of the magnetised solutions.

  3. Vortex Glass Transition in a Frustrated 3D XY Model with Disorder Peter Olsson

    E-print Network

    Olsson, Peter

    of the exchange Monte Carlo (MC) technique [7]. The value of the correlation length exponent was then foundVortex Glass Transition in a Frustrated 3D XY Model with Disorder Peter Olsson Department) The anisotropic frustrated three­dimensional (3D) XY model with disorder in the coupling constants is simulated

  4. Vortex Glass Transition in a Frustrated 3D XY Model with Disorder Peter Olsson

    E-print Network

    Olsson, Peter

    of the exchange Monte Carlo (MC) technique [7]. The value of the correlation length exponent was then foundVortex Glass Transition in a Frustrated 3D XY Model with Disorder Peter Olsson Department) The anisotropic frustrated three-dimensional (3D) XY model with disorder in the coupling constants is simulated

  5. Molecular Cytogenetic Characterization of the Dioecious Cannabis sativa with an XY Chromosome Sex Determination System

    PubMed Central

    Divashuk, Mikhail G.; Alexandrov, Oleg S.; Razumova, Olga V.; Kirov, Ilya V.; Karlov, Gennady I.

    2014-01-01

    Hemp (Cannabis sativa L.) was karyotyped using by DAPI/C-banding staining to provide chromosome measurements, and by fluorescence in situ hybridization with probes for 45 rDNA (pTa71), 5S rDNA (pCT4.2), a subtelomeric repeat (CS-1) and the Arabidopsis telomere probes. The karyotype has 18 autosomes plus a sex chromosome pair (XX in female and XY in male plants). The autosomes are difficult to distinguish morphologically, but three pairs could be distinguished using the probes. The Y chromosome is larger than the autosomes, and carries a fully heterochromatic DAPI positive arm and CS-1 repeats only on the less intensely DAPI-stained, euchromatic arm. The X is the largest chromosome of all, and carries CS-1 subtelomeric repeats on both arms. The meiotic configuration of the sex bivalent locates a pseudoautosomal region of the Y chromosome at the end of the euchromatic CS-1-carrying arm. Our molecular cytogenetic study of the C. sativa sex chromosomes is a starting point for helping to make C. sativa a promising model to study sex chromosome evolution. PMID:24465491

  6. Nonperturbative renormalization group approach to quantum XY spin models

    NASA Astrophysics Data System (ADS)

    Rançon, A.

    2014-06-01

    We present a lattice nonperturbative renormalization group (NPRG) approach to quantum XY spin models by using a mapping onto hardcore bosons. The NPRG takes as initial condition of the renormalization group flow the (local) limit of decoupled sites, allowing us to take into account the hardcore constraint exactly. The initial condition of the flow is equivalent to the large S classical results of the corresponding spin system. Furthermore, the hardcore constraint is conserved along the RG flow, and we can describe both local and long-distance fluctuations in a nontrivial way. We discuss a simple approximation scheme, and solve the corresponding flow equations. We compute both the zero-temperature thermodynamics and the finite temperature phase diagram on the square and cubic lattices. The NPRG allows us to recover the correct critical physics at finite temperature in two and three dimensions. The results compare well with numerical simulations.

  7. The Nonlinear Characteristic scheme in X-Y geometries

    SciTech Connect

    Walters, W.F.; Wareing, T.A.

    1994-08-01

    The Nonlinear Characteristic (NC) scheme for solving the discrete-ordinates form of the transport equation has recently been introduced and used to analyze one-dimensional slab transport problems. The purpose of this paper is to determine the accuracy and positivity of the NC scheme as extended to solve two-dimensional X-Y problems. We compare the results obtained using the NC scheme to those obtained using the Bilinear Discontinuous (BLD) scheme, the Bilinear Nodal (BLN) scheme, Linear Characteristic scheme, and the Diamond Difference with Fixup (DD/F) scheme. As was found in one-dimensional applications, the NC scheme is strictly positive and as accurate or more accurate than the other schemes for all meshes examined. The accuracy of the NC scheme for coarse meshes is particularity outstanding compared to that of the other schemes.

  8. Genome-wide association study with 1000 genomes imputation identifies signals for nine sex-hormone-related phenotypes

    E-print Network

    Ruth, Katherine S.; Campbell, Purdey J.; Chew, Shelby; Lim, Ee Mun; Hadlow, Narelle; Stuckey, Bronwyn G. A.; Brown, Suzanne J.; Feenstra, Bjarke; Joseph, John; Surdulescu, Gabriela L.; Zheng, Hou Feng; Richards, J. Brent; Murray, Anna; Spector, Tim D.; Wilson, Scott G.; Perry, John R. B.

    2015-05-20

    genotype and phenotype data from a UK twin register. We included 2,913 individuals (up to 294 males) from the Twins UK study, excluding individuals receiving hormone treatment. Phenotypes were standardized for age, sex, BMI, stage of menstrual cycle...

  9. CATSPER2, a human autosomal nonsyndromic male infertility gene

    E-print Network

    Lancet, Doron

    ARTICLE CATSPER2, a human autosomal nonsyndromic male infertility gene Nili Avidan1 , Hannah Tamary in spermatozoa) may explain the observed deafness and male infertility phenotypes. To the best of our knowledge associated with nonsyndromic male infertility. European Journal of Human Genetics (2003) 11, 497­502. doi:10

  10. Polymyxin Susceptibility in Pseudomonas aeruginosa Linked to the MexXY-OprM Multidrug Efflux System.

    PubMed

    Poole, Keith; Lau, Calvin Ho-Fung; Gilmour, Christie; Hao, Youai; Lam, Joseph S

    2015-12-01

    The ribosome-targeting antimicrobial, spectinomycin (SPC), strongly induced the mexXY genes of the MexXY-OprM multidrug efflux system in Pseudomonas aeruginosa and increased susceptibility to the polycationic antimicrobials polymyxin B and polymyxin E, concomitant with a decrease in expression of the polymyxin resistance-promoting lipopolysaccharide (LPS) modification loci, arnBCADTEF and PA4773-74. Consistent with the SPC-promoted reduction in arn and PA4773-74 expression being linked to mexXY, expression of these LPS modification loci was moderated in a mutant constitutively expressing mexXY and enhanced in a mutant lacking the efflux genes. Still, the SPC-mediated increase in polymyxin susceptibility was retained in mutants lacking arnB and/or PA4773-74, an indication that their reduced expression in SPC-treated cells does not explain the enhanced polymyxin susceptibility. That the polymyxin susceptibility of a mutant strain lacking mexXY was unaffected by SPC exposure, however, was an indication that the unknown polymyxin resistance 'mechanism' is also influenced by the MexXY status of the cell. In agreement with SPC and MexXY influencing polymyxin susceptibility as a result of changes in the LPS target of these agents, SPC treatment yielded a decline in common polysaccharide antigen (CPA) synthesis in wild-type P. aeruginosa but not in the ?mexXY mutant. A mutant lacking CPA still showed the SPC-mediated decline in polymyxin MICs, however, indicating that the loss of CPA did not explain the SPC-mediated MexXY-dependent increase in polymyxin susceptibility. It is possible, therefore, that some additional change in LPS promoted by SPC-induced mexXY expression impacted CPA synthesis or its incorporation into LPS and that this was responsible for the observed changes in polymyxin susceptibility. PMID:26369970

  11. Phenotypic plasticity in nematodes

    PubMed Central

    Viney, Mark; Diaz, Anaid

    2012-01-01

    Model systems, including C. elegans, have been successfully studied to understand the genetic control of development. A genotype’s phenotype determines its evolutionary fitness in natural environments, which are typically harsh, heterogeneous and dynamic. Phenotypic plasticity, the process by which one genome can produce different phenotypes in response to the environment, allows genotypes to better match their phenotype to their environment. Phenotypic plasticity is rife among nematodes, seen both as differences among life-cycles stages, perhaps best exemplified by parasitic nematodes, as well as developmental choices, such as shown by the C. elegans dauer/non-dauer developmental choice. Understanding the genetic basis of phenotypically plastic traits will probably explain the function of many genes whose function still remains unclear. Understanding the adaptive benefits of phenotypically plastic traits requires that we understand how plasticity differs among genotypes, and the effects of this in diverse, different environments. PMID:24058831

  12. A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.

    PubMed

    Ismail, S I; Mazen, I A

    2010-09-01

    Children with disorder of sex development (DSD) may be born with ambiguous genitalia. Decision-making in relation to sex assignment has been perceived as extremely disturbing and difficult to families and health care professionals. This is mainly due to a general paucity of information about the condition and an exaggerated feeling of stigma and shame associated with genital abnormalities. This is the first study in Egypt aimed at studying the psychosexual development and gender outcome of 40 Egyptian patients with 46,XY DSD focusing on the impact of social and religious factors. The patients were subjected to history-taking, pedigree analysis, full clinical examination, and cytogenetic studies. Hormonal, radiological investigations and molecular studies were performed when possible. Accordingly, they were classified into 4 groups: (1) sex chromosome aneuploid DSD (mixed gonadal dysgenesis) and (2) disorders of gonadal development (gonadal dysgenesis); (3) androgen biosynthesis defect (5alpha-reductase deficiency, 17beta-hydroxysteroid dehydrogenase deficiency), and (4) defect in androgen action (androgen insensitivity syndrome). The psychosexual development was assessed using adapted structured questionnaire and the Bem sex role inventory for patients below and above 12 years of age, respectively. Thirty-two patients (80%) were initially assigned as females; 3 patients with gonadal dysgenesis, 1 patient with 5alpha-reductase deficiency, and 1 patient with androgen insensitivity were reassigned as male. Male reassignment also was recorded in 5 patients with 17beta-hydroxysteroid dehydrogenase deficiency and one of them showed sex reversal twice. Gender outcome of our patients is elusive; the social component has a significant impact on the gender outcome in our society, even more than religion. We recommend that in the future more and more patients should be analyzed as well. These studies should be designed to emphasize the quality of life of DSD patients. PMID:20664246

  13. Karyotypic analysis and FISH mapping of microsatellite motifs reveal highly differentiated XX/XY sex chromosomes in the pink-tailed worm-lizard (Aprasia parapulchella, Pygopodidae, Squamata)

    PubMed Central

    2013-01-01

    Background The infraorder Gekkota is intriguing because it contains multiple chromosomal and environmental sex determination systems that vary even among closely related taxa. Here, we compare male and females karyotypes of the pink-tailed worm-lizard (Aprasia parapulchella), a small legless lizard belonging to the endemic Australian family Pygopodidae. Results We applied comparative genomic hybridization to reveal an XX/XY sex chromosome system in which the Y chromosome is highly differentiated from the X in both gross morphology and DNA sequence. In addition, FISH mapping has revealed that two microsatellite repeat motifs, (AGAT)n and (AC)n, have been amplified multiple times on the Y chromosome. Conclusion XY karyotypes are found in other pygopodids (Delma inornata and Lialis burtonis), suggesting that the common ancestor of Pygopodidae also had XY sex chromosomes. However, the morphology and size of the Y chromosomes are different among the three species, suggesting that the processes underlying the evolution of sex chromosomes in the Pygopodidae involved chromosome rearrangements and accumulation and amplification of repeats. PMID:24344753

  14. Phenotypic Differences in Individuals with Autism Spectrum Disorder Born Preterm and at Term Gestation

    ERIC Educational Resources Information Center

    Bowers, Katherine; Wink, Logan K.; Pottenger, Amy; McDougle, Christopher J.; Erickson, Craig

    2015-01-01

    The objective of the study was to characterize the phenotype of males and females with autism spectrum disorder born preterm versus those born at term. Descriptive statistical analyses identified differences between male and female autism spectrum disorder subjects born preterm compared to term for several phenotypic characteristics and…

  15. An Extra X or Y Chromosome: Contrasting the Cognitive and Motor Phenotypes in Childhood in Boys with 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

    ERIC Educational Resources Information Center

    Ross, Judith L.; Zeger, Martha P. D.; Kushner, Harvey; Zinn, Andrew R.; Roeltgen, David P.

    2009-01-01

    Objective: The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. Methods: Neuropsychological evaluation of general cognitive…

  16. Type II atresia ani associated with rectovaginal fistula in a male pseudohermaphrodite kitten

    PubMed Central

    Vallefuoco, Rosario; Alleaume, Charline; Jardel, Nicolas; Maenhoudt, Cindy; Cordonnier, Nathalie

    2013-01-01

    A combination of gastrointestinal and urogenital congenital abnormalities was diagnosed and surgically treated in a kitten. Physical examination, exploratory laparotomy, castration, histological examination, and cytogenetic karyotyping were utilized to determine the true gender of the kitten. The kitten was confirmed to be a male (38 XY) pseudohermaphrodite with Type II atresia ani and rectovaginal fistula. PMID:24155431

  17. Effects of sex chromosome aneuploidy on male sexual behavior

    PubMed Central

    Park, J. H.; Burns-Cusato, M.; Dominguez-Salazar, E.; Riggan, A.; Shetty, S.; Arnold, A. P.; Rissman, E. F.

    2008-01-01

    Incidence of sex chromosome aneuploidy in men is as high as 1:500. The predominant conditions are an additional Y chromosome (47,XYY) or an additional X chromosome (47,XXY). Behavioral studies using animal models of these conditions are rare. To assess the role of sex chromosome aneuploidy on sexual behavior, we used mice with a spontaneous mutation on the Y chromosome in which the testis-determining gene Sry is deleted (referred to as Y?) and insertion of a Sry transgene on an autosome. Dams were aneuploid (XXY?) and the sires had an inserted Sry transgene (XYSry). Litters contained six male genotypes, XY, XYY?, XXSry, XXY?Sry, XYSry and XYY?Sry. In order to eliminate possible differences in levels of testosterone, all of the subjects were castrated and received testosterone implants prior to tests for male sex behavior. Mice with an additional copy of the Y? chromosome (XYY?) had shorter latencies to intromit and achieve ejaculations than XY males. In a comparison of the four genotypes bearing the Sry transgene, males with two copies of the X chromosome (XXSry and XXY?Sry) had longer latencies to mount and thrust than males with only one copy of the X chromosome (XYSry and XYY?Sry) and decreased frequencies of mounts and intromissions as compared with XYSry males. The results implicate novel roles for sex chromosome genes in sexual behaviors. PMID:18363850

  18. Geographically multifarious phenotypic divergence during speciation

    PubMed Central

    Gompert, Zachariah; Lucas, Lauren K; Nice, Chris C; Fordyce, James A; Alex Buerkle, C; Forister, Matthew L

    2013-01-01

    Speciation is an important evolutionary process that occurs when barriers to gene flow evolve between previously panmictic populations. Although individual barriers to gene flow have been studied extensively, we know relatively little regarding the number of barriers that isolate species or whether these barriers are polymorphic within species. Herein, we use a series of field and lab experiments to quantify phenotypic divergence and identify possible barriers to gene flow between the butterfly species Lycaeides idas and Lycaeides melissa. We found evidence that L. idas and L. melissa have diverged along multiple phenotypic axes. Specifically, we identified major phenotypic differences in female oviposition preference and diapause initiation, and more moderate divergence in mate preference. Multiple phenotypic differences might operate as barriers to gene flow, as shown by correlations between genetic distance and phenotypic divergence and patterns of phenotypic variation in admixed Lycaeides populations. Although some of these traits differed primarily between species (e.g., diapause initiation), several traits also varied among conspecific populations (e.g., male mate preference and oviposition preference). PMID:23532669

  19. Male Infertility

    MedlinePLUS

    ... pregnant after at least one year of trying. Causes of male infertility include Physical problems with the testicles Blockages in the ducts that carry sperm Hormone problems A history of high fevers or mumps Genetic disorders Lifestyle or environmental factors About a third of ...

  20. The expression of Moore--Penrose inverse of $A-XY^*$

    E-print Network

    Du, Fapeng

    2010-01-01

    Let $K,\\,H$ be Hilbert spaces and let $L(K,H)$ denote the set of all bounded linear operators from $K$ to $H$. Let $A \\in L(H)\\triangleq L(H,H)$ with $R(A)$ closed and $X,Y \\in L(K,H)$ with $R(X)\\subseteq R(A),R(Y)\\subseteq R(A^*)$. In this short note, we give some new expressions of the Moore--Penrose inverse $(A-XY^*)^+$ of $A-XY^*$ under certain suitable conditions.

  1. Identification of Sex-Specific Markers Reveals Male Heterogametic Sex Determination in Pseudobagrus ussuriensis.

    PubMed

    Pan, Zheng-Jun; Li, Xi-Yin; Zhou, Feng-Jian; Qiang, Xiao-Gang; Gui, Jian-Fang

    2015-08-01

    Comprehending sex determination mechanism is a first step for developing sex control breeding biotechnologies in fish. Pseudobagrus ussuriensis, one of bagrid catfishes in Bagridae, had been observed to have about threefold size dimorphism between males and females, but its sex determination mechanism had been unknown. In this study, we firstly used the amplified fragment length polymorphism (AFLP)-based screening approach to isolate a male-specific DNA fragment and thereby identified a 10,569 bp of male-specific sequence and a 10,365 bp of female-related sequence by genome walking in the bagrid catfish, in which a substantial genetic differentiation with 96.35 % nucleotide identity was revealed between them. Subsequently, a high differentiating region of 650 bp with only 70.26 % nucleotide identity was found from the corresponding two sequences, and three primer pairs of male-specific marker, male and female-shared marker with different length products in male and female genomes, and female-related marker were designed. Significantly, when these markers were used to identify genetic sex of the bagrid catfish, only male individuals was detected to amplify the male-specific marker fragment, and female-related marker was discovered to produce dosage association in females and in males. Our current data provide significant genetic evidence that P. ussuriensis has heterogametic XY sex chromosomes in males and homogametic XX sex chromosomes in females. Therefore, sex determination mechanism of P. ussuriensis is male heterogametic XX/XY system. PMID:25981673

  2. Designing a low cost XY stage for abrasive water jet cutting

    E-print Network

    Abu Ibrahim, Fadi, 1980-

    2004-01-01

    This thesis guides the reader through the design of an inexpensive XY stage for abrasive water jet cutting machine starting with a set of functional requirements and ending with a product. Abrasive water jet cutting allows ...

  3. Sexy males and choosy females on exploded leks: correlates of male attractiveness in the Little Bustard.

    PubMed

    Jiguet, Frédéric; Bretagnolle, Vincent

    2014-03-01

    In their choice of mates, females may use alternative tactics, including a comparative assessment of males in a population, using one or several relative preference criteria. Traits involved in female choice should presumably be variable between, but not within males, thus potentially providing reliable cues of male identity and quality for prospecting females. In lekking species, sexual selection is usually intense, and females can freely choose mates. Studying the Little Bustard Tetrax tetrax, a bird with an exploded lek mating system, we first identified male phenotypic traits that showed higher among, than within variation (plumage pattern, display rates and call structure). Among those and other traits (ornaments and their symmetry, body condition, lek spatial organization and territory quality), we identified phenotypic traits that correlated with male attractiveness toward females. At least four phenotypic male traits were correlated with female attraction, i.e. body condition, lek attendance, ornamental symmetry and display rates. Traits related to the initial female attraction on male territory seem to differ from traits related to the decision of females to stay in the territory of attractive males. PMID:24440985

  4. Phenotypic switching in bacteria

    NASA Astrophysics Data System (ADS)

    Merrin, Jack

    Living matter is a non-equilibrium system in which many components work in parallel to perpetuate themselves through a fluctuating environment. Physiological states or functionalities revealed by a particular environment are called phenotypes. Transitions between phenotypes may occur either spontaneously or via interaction with the environment. Even in the same environment, genetically identical bacteria can exhibit different phenotypes of a continuous or discrete nature. In this thesis, we pursued three lines of investigation into discrete phenotypic heterogeneity in bacterial populations: the quantitative characterization of the so-called bacterial persistence, a theoretical model of phenotypic switching based on those measurements, and the design of artificial genetic networks which implement this model. Persistence is the phenotype of a subpopulation of bacteria with a reduced sensitivity to antibiotics. We developed a microfluidic apparatus, which allowed us to monitor the growth rates of individual cells while applying repeated cycles of antibiotic treatments. We were able to identify distinct phenotypes (normal and persistent) and characterize the stochastic transitions between them. We also found that phenotypic heterogeneity was present prior to any environmental cue such as antibiotic exposure. Motivated by the experiments with persisters, we formulated a theoretical model describing the dynamic behavior of several discrete phenotypes in a periodically varying environment. This theoretical framework allowed us to quantitatively predict the fitness of dynamic populations and to compare survival strategies according to environmental time-symmetries. These calculations suggested that persistence is a strategy used by bacterial populations to adapt to fluctuating environments. Knowledge of the phenotypic transition rates for persistence may provide statistical information about the typical environments of bacteria. We also describe a design of artificial genetic networks that would implement a more general theoretical model of phenotypic switching. We will use a new cloning strategy in order to systematically assemble a large number of genetic features, such as site-specific recombination components from the R64 plasmid, which invert several coexisting DNA segments. The inversion of these segments would lead to discrete phenotypic transitions inside a living cell. These artificial phenotypic switches can be controlled precisely in experiments and may serve as a benchmark for their natural counterparts.

  5. Male Obesity.

    PubMed

    Kiess, Wieland; Wagner, Isabel V; Kratzsch, Jürgen; Körner, Antje

    2015-12-01

    Many cross-sectional analyses and longitudinal studies have examined the association between adiposity and pubertal development. In addition, the impact of an increased fat mass on reproduction and fertility in human obese men and in male animal models of obesity has been studied. A trend toward earlier pubertal development and maturation in both sexes has been shown, and the notion that obese boys might progress to puberty at a slower pace than their nonobese peers can no longer be substantiated. Impaired fertility markers and reduced reproductive functions have been observed in obesity. Obesity affects both pubertal development and fertility in men. PMID:26568491

  6. Mating Behavior II: Male-Male Competition

    E-print Network

    Brown, Christopher A.

    1 Mating Behavior II: Male-Male Competition Intrasexual Selection Recall that the other "part" of sexual selection is competition between individuals of the same sex Usually involves males competing of male-male competition Often begins with non-contact displays, which may or may not escalate to fighting

  7. Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations

    PubMed Central

    Knower, Kevin C.; Kelly, Sabine; Ludbrook, Louisa M.; Bagheri-Fam, Stefan; Sim, Helena; Bernard, Pascal; Sekido, Ryohei; Lovell-Badge, Robin; Harley, Vincent R.

    2011-01-01

    Background In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expression in gonadal pre-Sertoli cells, which is preceded by transient SRY expression in mammals. In mice, Sox9 regulation is under the transcriptional control of SRY, SF1 and SOX9 via a conserved testis-specific enhancer of Sox9 (TES). Regulation of SOX9 in human sex determination is however poorly understood. Methodology/Principal Findings We show that a human embryonal carcinoma cell line (NT2/D1) can model events in presumptive Sertoli cells that initiate human sex determination. SRY associates with transcriptionally active chromatin in NT2/D1 cells and over-expression increases endogenous SOX9 expression. SRY and SF1 co-operate to activate the human SOX9 homologous TES (hTES), a process dependent on phosphorylated SF1. SOX9 also activates hTES, augmented by SF1, suggesting a mechanism for maintenance of SOX9 expression by auto-regulation. Analysis of mutant SRY, SF1 and SOX9 proteins encoded by thirteen separate 46,XY DSD gonadal dysgenesis individuals reveals a reduced ability to activate hTES. Conclusions/Significance We demonstrate how three human sex-determining factors are likely to function during gonadal development around SOX9 as a hub gene, with different genetic causes of 46,XY DSD due a common failure to upregulate SOX9 transcription. PMID:21412441

  8. 47,XXX chromosome constitution in a male.

    PubMed

    Bigozzi, U; Simoni, G; Montali, E; Dalpra, L; Rossella, F; Piazzini, M; Borghi, A

    1980-02-01

    An 18-year-old boy with a male phenotype was examined because of testicular hypoplasia. Chromosome analysis using Q- and R-banding techniques and BUdR treatment showed a 47,XXX karotype, in both lymphocytes and fibroblasts. Cytogenetic problems raised by this case are discussed in relation to data from previous published reports. PMID:7189218

  9. Male contraception.

    PubMed

    Chao, Jing; Page, Stephanie T; Anderson, Richard A

    2014-08-01

    Clear evidence shows that many men and women would welcome new male methods of contraception, but none have become available. The hormonal approach is based on suppression of gonadotropins and thus of testicular function and spermatogenesis, and has been investigated for several decades. This approach can achieve sufficient suppression of spermatogenesis for effective contraception in most men, but not all; the basis for these men responding insufficiently is unclear. Alternatively, the non-hormonal approach is based on identifying specific processes in sperm development, maturation and function. A range of targets has been identified in animal models, and targeted effectively. This approach, however, remains in the pre-clinical domain at present. There are, therefore, grounds for considering that safe, effective and reversible methods of contraception for men can be developed. PMID:24947599

  10. Recent social history alters male courtship preferences.

    PubMed

    Jordan, Lyndon A; Brooks, Robert C

    2012-01-01

    Phenotypically plastic mating behavior may allow males to modify their reproductive behavior to suit the prevailing social conditions, but we do not know if males only react to immediate social stimuli or change their inherent mate preferences according to their social history. Here we examine the effect of social experiences on the subsequent reproductive behavior of male guppies under standard conditions, allowing us to distinguish the effect of past and immediate social conditions. Males experienced experimental conditioning periods during which they interacted with three females, either of variable size or of similar size. Females arrived either simultaneously or consecutively. In subsequent standard assays, only males that had experienced females of variable size preferentially courted large females. Further, males exposed to sequential female arrival courted subsequent females more vigorously than males that had experienced simultaneous female arrival. In contrast, males did not alter their coercive mating attempts in relation to their recent social history. These results demonstrate that males use past experiences to modify their subsequent reproductive behavior rather than reacting only to immediate stimuli, and reveal the sophisticated ways in which males alter their reproductive tactics to suit the social environment and maximize fitness across changing selective landscapes. PMID:22220882

  11. Male Pattern Alopecia

    MedlinePLUS

    newsletter | contact Share | Hair Loss, Male Pattern Baldness (Male Pattern Alopecia) Information for adults A A A This man has worsening male-pattern hair loss resulting from the medication Tenormin. Overview Male pattern ...

  12. Male Reproductive System

    MedlinePLUS

    ... Deal With Bullies Pregnant? What to Expect Male Reproductive System KidsHealth > Parents > General Health > Body Basics > Male Reproductive ... your son's reproductive health. Continue About the Male Reproductive System Most species have two sexes: male and female. ...

  13. Male Reproductive System

    MedlinePLUS

    ... Best Self Smart Snacking Losing Weight Safely Male Reproductive System KidsHealth > Teens > Sexual Health > Your Changing Body > Male ... female reproductive systems. Continue What Is the Male Reproductive System? Most species have two sexes: male and female. ...

  14. Sexual Selection: Male-Male Competition

    E-print Network

    Miller, Christine Whitney

    in sex-role reversed species. Polygyny. Mating systems characterized by high vari- ance in male reproductive success; a few males mate with many females, and many males mate with few or no females. Sperm between males and females is due to the factors that limit reproductive success for each sex. In- dividual

  15. Relative importance of male and territory quality in pairing success of male rock ptarmigan (Lagopus mutus)

    USGS Publications Warehouse

    Bart, Jonathan; Earnst, Susan L.

    1999-01-01

    We studied pairing success in male rock ptarmigan (Lagopus mutus) in northern Alaska to learn whether males obtaining more females possessed phenotypic traits that influenced female choice directly, whether these traits permitted males to obtain territories favored by females, or whether both processes occurred. The number of females per male varied from zero to three. Several male and territory traits were significantly correlated with number of females per male. We used multiple regression to obtain a single measure of male quality and a single measure of territory quality. These measures of male and territory quality correlated with each other and with male pairing success. We used path analysis to separate direct effects of male quality on pairing success from indirect effects due to high-quality males obtaining high-quality territories. Both direct and indirect pathways had significant effects on pairing success, and direct and indirect effects of male traits on pairing success were about equal. This study illustrates an analytical approach for estimating the relative importance of direct and indirect causal relationships in natural systems.

  16. [Turner's syndrome--correlation between karyotype and phenotype].

    PubMed

    Lacka, Katarzyna

    2005-01-01

    Turner's syndrome is defined as a congenital disease determining by quantitative and/or structural aberrations of one from two X chromosomes with frequent presence of mosaicism. Clinically it is characterized by growth and body proportion abnormalities, gonadal dysgenesis resulting in sexual infantilism, primary amenorrhoea, infertility, characteristic stigmata, anomalies of heart, renal and bones and the presence of some diseases like Hashimoto thyroiditis with hypothyroidism, diabetes mellitus type 2, osteoporosis, hypertension. Turner's syndrome occurs in 1:2000 to 1:2500 female livebirth. The most frequent X chromosome aberrations in patients with phenotype of Turner syndrome are as follows: X monosomy - 45,X; mosaicism (50-75%), including 45,X/46,XX (10-15%), 45,X/46,XY (2-6%), 45,X/46,X,i(Xq), 45,X/46,X,del(Xp), 45,X/46,XX/47,XXX; aberration of X structure: total or partial deletion of short arm of X chromosome (46,X,del(Xp)) isochromosom of long arm of X chromosome (46,X,(i(Xq)), ring chromosome (46, X,r(X)), marker chromosome (46,X+m). Searching of X chromosome and mapping and sequencing of genes located at this chromosome (such as SHOX, ODG2, VSPA, SOX 3) have made possible to look for linkage between phenotypes and adequate genes or regions of X chromosome. In this paper current data concerning correlation between phenotype and karyotype in patients with TS have been presented. PMID:16821224

  17. Measurement-induced nonlocality in the two-qubit Heisenberg XY model

    NASA Astrophysics Data System (ADS)

    Chen, Wen-Xue; Xie, Yu-Xia; Xi, Xiao-Qiang

    2015-04-01

    Quantum correlations are essential for quantum information processing (QIP). Measurement-induced nonlocality (MIN) is a good measure of quantum correlation, and is favored for its conceptual implication and potential application. We investigated here the particular behaviors of the geometric and entropic measures of MIN in the two-qubit Heisenberg XY model and revealed the effects of anisotropic parameter ? and the external magnetic field B on them. Our results showed that both ? and B can serve as efficient controlling parameters for tuning MIN in the XY model.

  18. Male differentiation of germ cells induced by embryonic age-specific Sertoli cells in mice.

    PubMed

    Ohta, Kohei; Yamamoto, Miyuki; Lin, Yanling; Hogg, Nathanael; Akiyama, Haruhiko; Behringer, Richard R; Yamazaki, Yukiko

    2012-04-01

    Retinoic acid (RA) is a meiosis-inducing factor. Primordial germ cells (PGCs) in the developing ovary are exposed to RA, resulting in entry into meiosis. In contrast, PGCs in the developing testis enter mitotic arrest to differentiate into prospermatogonia. Sertoli cells express CYP26B1, an RA-metabolizing enzyme, providing a simple explanation for why XY PGCs do not initiate meios/is. However, regulation of entry into mitotic arrest is likely more complex. To investigate the mechanisms that regulate male germ cell differentiation, we cultured XX and XY germ cells at 11.5 and 12.5 days postcoitus (dpc) with an RA receptor inhibitor. Expression of Stra8, a meiosis initiation gene, was suppressed in all groups. However, expression of Dnmt3l, a male-specific gene, during embryogenesis was elevated but only in 12.5-dpc XY germ cells. This suggests that inhibiting RA signaling is not sufficient for male germ cell differentiation but that the male gonadal environment also contributes to this pathway. To define the influence of Sertoli cells on male germ cell differentiation, Sertoli cells at 12.5, 15.5, and 18.5 dpc were aggregated with 11.5 dpc PGCs, respectively. After culture, PGCs aggregated with 12.5 dpc Sertoli cells increased Nanos2 and Dnmt3l expression. Furthermore, these PGCs established male-specific methylation imprints of the H19 differentially methylated domains. In contrast, PGCs aggregated with Sertoli cells at late embryonic ages did not commit to the male pathway. These findings suggest that male germ cell differentiation is induced both by inhibition of RA signaling and by molecule(s) production by embryonic age-specific Sertoli cells. PMID:22262692

  19. Male Differentiation of Germ Cells Induced by Embryonic Age-Specific Sertoli Cells in Mice1

    PubMed Central

    Ohta, Kohei; Yamamoto, Miyuki; Lin, Yanling; Hogg, Nathanael; Akiyama, Haruhiko; Behringer, Richard R.; Yamazaki, Yukiko

    2012-01-01

    ABSTRACT Retinoic acid (RA) is a meiosis-inducing factor. Primordial germ cells (PGCs) in the developing ovary are exposed to RA, resulting in entry into meiosis. In contrast, PGCs in the developing testis enter mitotic arrest to differentiate into prospermatogonia. Sertoli cells express CYP26B1, an RA-metabolizing enzyme, providing a simple explanation for why XY PGCs do not initiate meios/is. However, regulation of entry into mitotic arrest is likely more complex. To investigate the mechanisms that regulate male germ cell differentiation, we cultured XX and XY germ cells at 11.5 and 12.5 days postcoitus (dpc) with an RA receptor inhibitor. Expression of Stra8, a meiosis initiation gene, was suppressed in all groups. However, expression of Dnmt3l, a male-specific gene, during embryogenesis was elevated but only in 12.5-dpc XY germ cells. This suggests that inhibiting RA signaling is not sufficient for male germ cell differentiation but that the male gonadal environment also contributes to this pathway. To define the influence of Sertoli cells on male germ cell differentiation, Sertoli cells at 12.5, 15.5, and 18.5 dpc were aggregated with 11.5 dpc PGCs, respectively. After culture, PGCs aggregated with 12.5 dpc Sertoli cells increased Nanos2 and Dnmt3l expression. Furthermore, these PGCs established male-specific methylation imprints of the H19 differentially methylated domains. In contrast, PGCs aggregated with Sertoli cells at late embryonic ages did not commit to the male pathway. These findings suggest that male germ cell differentiation is induced both by inhibition of RA signaling and by molecule(s) production by embryonic age-specific Sertoli cells. PMID:22262692

  20. Psychiatric and Cognitive Phenotype of Childhood Myotonic Dystrophy Type 1

    ERIC Educational Resources Information Center

    Douniol, Marie; Jacquette, Aurelia; Cohen, David; Bodeau, Nicolas; Rachidi, Linda; Angeard, Nathalie; Cuisset, Jean-Marie; Vallee, Louis; Eymard, Bruno; Plaza, Monique; Heron, Delphine; Guile, Jean-Marc

    2012-01-01

    Aim: To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1). Method: Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence,…

  1. Broiler Breeder Sperm Mobility Phenotype and its Effects on Female Fertility

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Semen quality in poultry can be characterized by different phenotypic traits including volume, concentration, mobility, viability, and sperm morphology. To date, sperm mobility phenotype has been shown to be the most reliable indicator of male fertilizing potential under artificial insemination (AI...

  2. Genetic resources for phenotyping

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Phenotyping of structured populations, along with molecular genotyping, will be essential for marker development in peanut. This research is essential for making the peanut genome sequence and genomic tools useful to breeders because it makes the connection between genes, gene markers, genetic maps...

  3. Down Syndrome: Cognitive Phenotype

    ERIC Educational Resources Information Center

    Silverman, Wayne

    2007-01-01

    Down syndrome is the most prevalent cause of intellectual impairment associated with a genetic anomaly, in this case, trisomy of chromosome 21. It affects both physical and cognitive development and produces a characteristic phenotype, although affected individuals vary considerably with respect to severity of specific impairments. Studies…

  4. Kink-antikink unbinding transition in the two-dimensional fully frustrated XY model Peter Olsson1

    E-print Network

    Olsson, Peter

    model with Monte Carlo MC dynamics,11 found evidence for a transition in domain wall morphologyKink-antikink unbinding transition in the two-dimensional fully frustrated XY model Peter Olsson1-antikink unbinding transition along Ising-like domain walls in the two-dimensional fully frustrated XY model. We

  5. Phenotypic Bias and Ethnic Identity in Filipino Americans*

    PubMed Central

    Kiang, Lisa; Takeuchi, David T.

    2009-01-01

    Objective Links between phenotypes (skin tone, physical features) and a range of outcomes (income, physical health, psychological distress) were examined. Ethnic identity was examined as a protective moderator of phenotypic bias. Method Data were from a community sample of 2,092 Filipino adults in San Francisco and Honolulu. Results After controlling for age, nativity, marital status, and education, darker skin was associated with lower income and lower physical health for females and males. For females, more ethnic features were associated with lower income. For males, darker skin was related to lower psychological distress. One interaction was found such that females with more ethnic features exhibited lower distress; however, ethnic identity moderated distress levels of those with less ethnic features. Conclusions Phenotypic bias appears prevalent in Filipino Americans though specific effects vary by gender and skin color versus physical features. Discussion centers on the social importance of appearance and potential strengths gained from ethnic identification. PMID:20107617

  6. Gender Identity and Coping in Female 46, XY Adults with Androgen Biosynthesis Deficiency (Intersexuality/DSD)

    ERIC Educational Resources Information Center

    Schweizer, Katinka; Brunner, Franziska; Schutzmann, Karsten; Schonbucher, Verena; Richter-Appelt, Hertha

    2009-01-01

    Individuals living with an intersex condition have not received much attention in counseling psychology, although a high need for psychosocial care is obvious. Using a mixed-methods multiple case study with qualitative and quantitative data, the authors explore coping and gender experiences in seven 46, XY intersexual persons with deficiencies of…

  7. Shock aurora: Ground-based imager observations X.-Y. Zhou,1

    E-print Network

    Carlson, Charles W.

    Shock aurora: Ground-based imager observations X.-Y. Zhou,1 K. Fukui,2 H. C. Carlson,3 J. I. Moen,4; published 23 December 2009. [1] This paper studies dayside shock aurora forms and their variations observed. The intensified green emissions were mainly diffuse aurora on closed field lines. They were latitudinally below

  8. Shock aurora: FAST and DMSP observations X.-Y. Zhou,1

    E-print Network

    California at Berkeley, University of

    Shock aurora: FAST and DMSP observations X.-Y. Zhou,1 R. J. Strangeway,2 P. C. Anderson,3 D. G of the aurora caused by interplanetary shocks/pressure pulses have been studied in recent years using ultraviolet imager data from polar orbiting spacecraft. The signatures include the occurrence of the aurora

  9. Vortex patterns and infinite degeneracy in the uniformly frustrated XY models and lattice Coulomb gas

    E-print Network

    Lee, Jooyoung

    Vortex patterns and infinite degeneracy in the uniformly frustrated XY models and lattice Coulomb April 2003 We find analytically and numerically that there exist infinite degeneracies in the ground are conserved at each node in a trivial manner by separate channels. The infinite ground state degeneracy

  10. PHYSICAL REVIEW E 90, 042103 (2014) Avalanches and hysteresis in frustrated superconductors and XY spin glasses

    E-print Network

    Müller, Markus

    2014-01-01

    PHYSICAL REVIEW E 90, 042103 (2014) Avalanches and hysteresis in frustrated superconductors and XY October 2014) We study avalanches along the hysteresis loop of long-range interacting spin glasses becoming unstable, which induces an avalanche of phase updates (or spin alignments). We analyze

  11. Hysteresis Modeling and Compensation for an XY Micropositioning Stage with Model Reference Adaptive Control

    E-print Network

    Li, Yangmin

    Hysteresis Modeling and Compensation for an XY Micropositioning Stage with Model Reference Adaptive to compensate for the hysteresis effects aiming at a sub-micron accuracy motion tracking control. To convert the desired motion trajectory into voltage input, the inverse modified Prandtl-Ishlinskii (PI) hysteresis

  12. Male pattern baldness

    MedlinePLUS

    Alopecia in men; Baldness - male; Hair loss in men; Androgenetic alopecia ... Male pattern baldness is related to your genes and male sex hormones. It usually follows a pattern of receding hairline and ...

  13. Size-dependent alternative male mating tactics in the yellow dung fly,

    E-print Network

    Uy, J. Albert C.

    is present where females aggregate (i.e. apple pomace, where both sexes come to feed), smaller males male strategies are the few known examples of genetic poly- morphisms that are evolutionarily in diverse taxa (Oliveira et al. 2008), are alternative male reproductive phenotypes constituting

  14. [Phenotype specific therapy of COPD].

    PubMed

    Rothe, Thomas

    2014-12-10

    COPD is not a homogenous disease but consists of at least four different phenotypes: Emphysema, COPD with chronic bronchitis, asthma-COPD overlap syndrome (ACOS), and COPD with recurrent exacerbations. With differentiation, treatment can be designed phenotype-specific. Some modern drugs are not indicated in all phenotypes. PMID:25491053

  15. Absence of correlation between Sry polymorphisms and XY sex reversal caused by the M.m. domesticus Y chromosome

    SciTech Connect

    Carlisle, C.; Nagamine, C.M.; Winkinig, H.; Weichenhan, D.

    1996-04-01

    Mus musculus domesticus Y chromosomes (Y{sup DOM} Chrs) vary in their ability to induce testes in the strain C57BL/6J. In severe cases, XY females develop (XY{sup DOM} sex reversal). To identify the molecular basis for the sex reversal, a 2.7-kb region of Sry, the testis-determining gene, was sequenced from Y{sup DOM} Chrs linked to normal testis determination, transient sex reversal, and severe sex reversal. Four mutations were identified. However, no correlation exists between these mutations and severity of XY{sup DOM} sex reversal. RT-PCR identified Sry transcripts in XY{sup DOM} sex-reversed fetal gonads at 11 d.p.c., the age when Sry is hypothesized to function. In addition, no correlation exists between XY{sup DOM} sex reversal and copy numbers of pSx1, a Y-repetitive sequence whose deletion is linked to XY sex reversal. We conclude that SRY protein variants, blockade of Sry transcription, and deletion of pSx1 sequences are not the underlying causes of XY{sup DOM} sex reversal. 63 refs., 6 figs., 6 tabs.

  16. Graduating Black Males

    ERIC Educational Resources Information Center

    Bell, Edward Earl

    2010-01-01

    Background: The graduation numbers for Black males are dismal, chilling, and undeniably pathetic. The nation graduates only 47% of Black males who enter the 9th grade. The infusion of federal dollars and philanthropic support will not stop the trajectory of Black males who drop out of school. Black males face an upheaval educational battle;…

  17. xy xy xz xy OSCAR Fortran

    E-print Network

    Kasahara, Hironori

    Department of Information Science, Toho University xAdvanced Parallelizing Compiler Research Group Abstract This paper.1 0 PC 0 PC PE 1 PC n PC PE (n + 1) PC 2.2 13) 2.2.1 0 1 MT BPA RB SB 3 13) 1 RB SB BPA RB SB 2 2

  18. Genetic aspects of communication during male-male competition in the Madagascar hissing cockroach: honest signalling of size.

    PubMed

    Clark, D C; Moore, A J

    1995-08-01

    Male Madagascar hissing cockroaches, Gromphadorhina portentosa, engage in agonistic contests with other males and produce audible sounds or 'hisses' during these interactions. Hisses are used to maintain, rather than to establish, social relationships among males. The agonistic hisses of males are variable and could be used as signals to communicate size or competitive ability of an individual. In this study we examined how size influences male-male competition, as well as the genetic variation and covariation of male body size and components of the agonistic hiss. We found that male size affected the outcome of agonistic interactions between pairs of males: a male that dominated in a pair was significantly larger than the male that was subordinate. However, we found no differences in the hisses produced by dominant and subordinate males after controlling for male weight. We estimated heritabilities, evolvability and genetic correlations for male size and characteristics of the hiss from a full-sib analysis of brothers. The patterns of heritabilities and evolvabilities were very similar. The heritabilities of both male weight and duration of the hiss were significantly greater than zero. There was a significant positive genetic correlation between duration of the agonistic hiss and male weight, and a significant negative genetic correlation between hiss duration and the beginning dominant frequency. There was also a positive phenotypic correlation and a negative environmental correlation between male weight and hiss duration. Thus, hiss duration can signal the present influence of the environment on male size, whereas information from hiss duration and beginning dominant frequency can signal the male's ability to transmit genetic influence for size.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7558888

  19. Possible fetal determinants of male infertility.

    PubMed

    Juul, Anders; Almstrup, Kristian; Andersson, Anna-Maria; Jensen, Tina K; Jørgensen, Niels; Main, Katharina M; Rajpert-De Meyts, Ewa; Toppari, Jorma; Skakkebæk, Niels E

    2014-09-01

    Although common reproductive problems, such as male infertility and testicular cancer, present in adult life, strong evidence exists that these reproductive disorders might have a fetal origin. The evidence is derived not only from large epidemiological studies that show birth-cohort effects with regard to testicular cancer, levels of testosterone and semen quality, but also from histopathological observations. Many infertile men have histological signs of testicular dysgenesis, including Sertoli-cell-only tubules, immature undifferentiated Sertoli cells, microliths and Leydig cell nodules. The most severe gonadal symptoms occur in patients with disorders of sexual development (DSDs) who have genetic mutations, in whom even sex reversal of individuals with a 46,XY DSD can occur. However, patients with severe DSDs might represent only a small proportion of DSD cases, with milder forms of testicular dysgenesis potentially induced by exposure to environmental and lifestyle factors. Interestingly, maternal smoking during pregnancy has a stronger effect on spermatogenesis than a man's own smoking. Other lifestyle factors such as alcohol consumption and obesity might also have a role. However, increasing indirect evidence exists that exposure to ubiquitous endocrine disrupting chemicals, present at measurable concentrations in individuals, might affect development of human fetal testis. If confirmed, health policies to prevent male reproductive problems should not only target adult men, but also pregnant women and their children. PMID:24935122

  20. Phenotyping animalPhenotyping animal social behaviorssocial behaviors

    E-print Network

    Kalueff, Allan V.

    nursing, nesting behaviorsfemale nursing, nesting behaviors Abnormally high male aggression levelsDifferent from rat colonies in some ways Colony defended by a dominant maleColony defended by a dominant maleAbnormally high male aggression levels territorialityterritoriality #12;Social deprivationSocial deprivation

  1. Case of 46,XX/47,XY, +21 chimerism in a newborn infant with ambiguous genitalia

    SciTech Connect

    Sawai, Tomoko; Yoshimoto, Masaaki; Kinoshita, Ei-ichi; Baba, Tsuneyoshi; Matsumoto, Tadashi; Tsuji, Yoshiro, Niikawa, Norio; Fukuda, Shinpei; Harada, Naoki

    1994-02-15

    The authors describe the whole-body chimerism in a newborn infant with small phallus, pseudo-vaginal perineal hypospadias, and a bifid scrotum containing gonads. The human testis determining factor gene (SRY) was detected by PCR amplification. GTG-banding chromosome analysis in peripheral blood lymphocytes and cultured fibroblasts derived from right cubital skin showed a 46,XX/47,XY, +21 karyotype. Their ratios in each cell line were 294:5 and 178:7, respectively. QFQ-banding chromosome analysis documented 3 heteromorphic satellites on trisomic chromsomes 21 in the 47,XY,+21 cell line and a homozygous satellite pattern in the 46,XX cell line. Heteromorphic patterns of chromsomes 4, 13, 14, and 22 were also different between the two cell lines. To our knowledge, such disomy/trisomy chimeras have not been described previously. 10 refs., 3 figs.

  2. Non-zero entropy density in the XY chain out of equilibrium

    E-print Network

    Walter H. Aschbacher

    2006-10-20

    The von Neumann entropy density of a block of n spins is proved to be non-zero for large n in the non-equilibrium steady state of the XY chain constructed by coupling a finite cutout of the chain to the two infinite parts to its left and right which act as thermal reservoirs at different temperatures. Moreover, the non-equilibrium density is shown to be strictly greater than the density in thermal equilibrium.

  3. Particle parameter analyzing system. [x-y plotter circuits and display

    NASA Technical Reports Server (NTRS)

    Hansen, D. O.; Roy, N. L. (inventors)

    1969-01-01

    An X-Y plotter circuit apparatus is described which displays an input pulse representing particle parameter information, that would ordinarily appear on the screen of an oscilloscope as a rectangular pulse, as a single dot positioned on the screen where the upper right hand corner of the input pulse would have appeared. If another event occurs, and it is desired to display this event, the apparatus is provided to replace the dot with a short horizontal line.

  4. All possible coupling schemes in XY spin chains for perfect state transfer

    SciTech Connect

    Wang Yaoxiong; Shuang Feng; Rabitz, Herschel

    2011-07-15

    We investigate quantum state transfer in XY spin chains and propose a recursive procedure to construct the nonuniform couplings within these chains of arbitrary length in order to achieve perfect state transfer. We show that this method is capable of finding all possible coupling schemes for perfect state transfer. These schemes, without external control fields, involve analytically identified engineered couplings without the need for dynamical control. The analytical solutions provide all information for coupling design.

  5. SRY alone can induce normal male sexual differentiation

    SciTech Connect

    Lopez, M.; Torres, L.; Cervantes, A.

    1995-01-30

    Most individuals with the rare 46,XX male {open_quotes}syndrome{close_quotes} arise due to an unequal interchange between Xp and Yp termini during paternal meiosis. The pattern of Y-sequences in these patients varies considerably, but very few cases have been reported showing only SRY. The phenotype in these patients is also variable ranging from severe impairment of the external genitalia through hypospadias and/or cryptorchidism to occasional normal male phenotype. We report a Mexican 46,XX male patient without genital ambiguities in whom DNA analysis showed the presence of SRY and the absence of ZFY. We conclude that in this case SRY alone was enough for complete male sexual differentiation. 25 refs., 1 fig.

  6. Discordant phenotype in siblings with X-linked agammaglobulinemia

    SciTech Connect

    Bykowsky, M.J.; Veksler, K.S.; Sullivan, K.E.

    1996-03-01

    X-linked agammaglobulinemia (XLA) is a congenital humoral immunodeficiency caused by a defect in a B-cell-specific signaling molecule, Btk. There has been little concordance of phenotype with genotype in this disorder, and defects in Btk cause immunodeficiencies that range from mild impairment to complete inability to produce antibodies. The factors modifying the phenotype of XLA are not understood. The current study is the first description of two male siblings with identical T{sup 134}{yields}C mutations in the translation initiation ATG of Btk who have different clinical phenotypes as well as different laboratory phenotypes. The proband lacks immunoglobulins and B cells and has recurrent infections, while the elder, affected brother has normal levels of IgG and IgM and very few infections. Both have undetectable levels of Btk kinase activity in circulating mononuclear cells. Complete sequencing of Btk gene transcripts in both brothers revealed no additional mutations to account for the discordant phenotypes. This description provides unequivocal evidence that the phenotype of XLA is influenced by factors additional to the Btk gene. 39 refs., 3 figs., 3 tabs.

  7. Unified phase diagram for the three-dimensional XY model of a point-disordered type-II superconductor

    E-print Network

    Teitel, Stephen L.

    Carlo simulations of the three-dimensional uniformly frustrated XY model with uncorrelated randomly March 2009; revised manuscript received 4 May 2009; published 3 June 2009 We carry out extensive Monte

  8. Low energy XY spin clusters in a pyrochlore antiferromagnet with weak disorder

    NASA Astrophysics Data System (ADS)

    Ross, Kate

    2015-03-01

    The spin liquid state of the Heisenberg antiferromagnet (HAFM) on the pyrochlore lattice arises from an extensive degeneracy of correlated yet disordered ground states. How this spin liquid is modified in real materials with imperfect Heisenberg exchange is a rich field of study, with many possible outcomes depending on the relevant perturbations. We have studied a single crystal of a new pyrochlore antiferromagnet, NaCaCo2F7. High spin (S = 3 / 2) Co2+ forms a fully ordered pyrochlore sub lattice, while non-magnetic Na+ and Ca2+ are intermixed on the A-site. Despite isotropic magnetic properties and large antiferromagnetic coupling (?CW = -140 K), a freezing transition is observed at temperature much lower than the exchange energy (Tf ~ 3 K), thus revealing the relatively weak exchange disorder induced by the mixed ion A-site. Unexpectedly, our inelastic neutron scattering measurements reveal that the frozen state is of local XY character and supports low energy XY fluctuations. Yet the system can break free from the XY states at energies above 2.5 meV ~ 30 K; at these energy scales we observe the collinear Ising configurations expected for the weak-disorder HAFM model. The frozen state in NaCaCo2F7 provides a new outlook on the role of disorder in selecting spin configurations from the Heisenberg pyrochlore spin liquid state. Supported by NSERC of Canada.

  9. Compressed simulation of thermal and excited states of the 1-D XY-model

    E-print Network

    Walter León Boyajian; Barbara Kraus

    2015-06-23

    Since several years the preparation and manipulation of a small number of quantum systems in a controlled and coherent way is feasible in many experiments. In fact, these experiments are nowadays commonly used for quantum simulation and quantum computation. As recently shown, such a system can, however, also be utilized to simulate specific behaviors of exponentially larger systems. That is, certain quantum computations can be performed by an exponentially smaller quantum computer. This compressed quantum computation can be employed to observe for instance the quantum phase transition of the 1D XY-model using very few qubits. We extend here this notion to simulate the behavior of thermal as well as excited states of the 1D XY-model. In particular, we consider the 1D XY-model of a spin chain of n qubits and derive a quantum circuit processing only $\\mathrm{log}(n)$ qubits which simulates the original system. We demonstrate how the behavior of thermal as well as any eigenstate of the system can be efficiently simulated in this compressed fashion and present a quantum circuit on $\\mathrm{log}(n)$ qubits to measure the magnetization, the number of kinks, and correlations occurring in the thermal as well as any excited state of the original systems. Moreover we derive compressed circuits to study time evolutions.

  10. EHR Big Data Deep Phenotyping

    PubMed Central

    Lenert, L.; Lopez-Campos, G.

    2014-01-01

    Summary Objectives Given the quickening speed of discovery of variant disease drivers from combined patient genotype and phenotype data, the objective is to provide methodology using big data technology to support the definition of deep phenotypes in medical records. Methods As the vast stores of genomic information increase with next generation sequencing, the importance of deep phenotyping increases. The growth of genomic data and adoption of Electronic Health Records (EHR) in medicine provides a unique opportunity to integrate phenotype and genotype data into medical records. The method by which collections of clinical findings and other health related data are leveraged to form meaningful phenotypes is an active area of research. Longitudinal data stored in EHRs provide a wealth of information that can be used to construct phenotypes of patients. We focus on a practical problem around data integration for deep phenotype identification within EHR data. The use of big data approaches are described that enable scalable markup of EHR events that can be used for semantic and temporal similarity analysis to support the identification of phenotype and genotype relationships. Conclusions Stead and colleagues’ 2005 concept of using light standards to increase the productivity of software systems by riding on the wave of hardware/processing power is described as a harbinger for designing future healthcare systems. The big data solution, using flexible markup, provides a route to improved utilization of processing power for organizing patient records in genotype and phenotype research. PMID:25123744

  11. Meiotic behaviour and sperm aneuploidy in an infertile man with a mosaic 45,X/46,XY karyotype.

    PubMed

    Ren, He; Chow, Victor; Ma, Sai

    2015-12-01

    The meiotic behaviour of the germ cells in 45,X/46,XY men has not been extensively studied. This study investigated the meiotic events and sperm aneuploidy in an azoospermic man with a 45,X/46,XY (50/50) mosaic karyotype to better understand the fate of the 45,X cells and the production of chromosomally abnormal spermatozoa. Combining immunofluorescence techniques and fluorescence in-situ hybridization, meiotic recombination, synapsis, meiotic sex chromosome inactivation (MSCI) and configuration were analysed, as well as sperm aneuploidy in the patient and 10 normal, fertile men. Despite the 50:50 somatic mosaicism in the patient, 25% of pachytene cells analysed were 45,X. Furthermore, 63% of pachytene cells were 46,XY with paired sex chromosomes, and 12% were 46,XY with unpaired sex chromosomes, which displayed abnormal MCSI patterns. Although the patient's testicular spermatozoa showed increased aneuploidy, the majority were of normal constitution. The X:Y sperm ratio was significantly increased compared with the controls (P < 0.001), which may indicate that some 45,X cells gave rise to X-bearing spermatozoa. The findings provide insight into the fate of 45,X/46,XY cells in meiosis, supporting the hypothesis that stringent checkpoints ensure the favourable production of spermatozoa with normal chromosomal constitution despite an individual's abnormal karyotype. PMID:26511872

  12. Gauge-invariant correlation functions in the two-dimensional X-Y model with full and random frustration

    SciTech Connect

    Ramirez-Santiago, G.

    1991-01-01

    Gauge-invariant correlation functions of the two-dimensional X-Y model at full and random frustration. These models describe two-dimensional arrays of Josephson junctions and many of the metastable properties observed experimentally in high-Tc superconductors. Gauge-invariant phase and chiral correlation functions and thermodynamic properties are calculated from Monte Carlo simulations of these models. For the fully frustrated X-Y model, the critical exponents and critical temperatures of the U(1) and Z[sub 2] degrees of freedom are calculated. These exponents are found to be different from the unfrustrated X-Y model critical exponents and Ising critical exponents, suggesting that the X-Y model at full frustration is in a novel universality class. In addition, it is found that the jump in the helicity modulus is smaller than the universal value predicted for the unfrustrated X-Y model. The X-Y model with random frustration shows metastable behavior that is qualitatively similar to that found experimentally in most high-T[sub c] superconductors. Several of the results presented are in striking qualitative agreement with the experimental results.

  13. Brachmann-de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission

    SciTech Connect

    McKenney, R.R.; Elder, F.F.B.; Northrup, H.; Garcia, J.

    1996-12-30

    We report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but definite BDLS phenotype. Our report documents the third example of male-to-male transmission and adds to the argument against exclusively maternal transmission in familial cases. In addition, our findings illustrate the occurrence of severe manifestations in cases of familial BDLS. 29 refs., 3 figs.

  14. Male pattern baldness (image)

    MedlinePLUS

    Male pattern baldness is a sex-linked characteristic that is passed from mother to child. A man can more accurately predict his chances of developing male pattern baldness by observing his mother's father than by looking ...

  15. Male Reproductive System

    MedlinePLUS

    ... Urethra Review Quiz Reproductive System Male Reproductive System Testes Duct System Accessory Glands Penis Male Sexual Response & ... reproduction. This system consists of a pair of testes and a network of excretory ducts (epididymis, ductus ...

  16. Unbiased ascertainment of a patient with a 47,XY, +pseudic (15)t(15;15)(q13;q13) karyotype by amniocentesis

    SciTech Connect

    Spector, E.; Prochazka, G.; Hamilton, S.

    1994-09-01

    A 47,XY,+mar male karyotype was found in all metaphases on an amniocentesis from a 36-year-old woman (G1,P0). The marker was G group size. Chromosome studies on the parents were normal. C-banding, NOR staining and FISH demonstrated that the marker was dicentric, bisatellited, derived from No. 15 and contained 2 copies of the chromosomal region flanked by the Prader-Willi/Angelman A and B probes. The final karyotype was: 47,XY,+pseudic(15)t(15;15)(q13;q13), making the fetus tetrasomic for the genes in the duplicated region. DNA marker studies for No. 15 (performed in the laboratory of Dr. David Ledbetter) revealed that the fetus had inherited on No. 15 from each parent and that the marker was derived from both maternal No. 15 chromosomes. The parents chose to continue the pregnancy. The baby was born at 38 weeks gestation, was mildly edematous and had Apgar scores of 4, 7, and 8 at 1, 5, and 10 min, respectively. The marker was confirmed to be present in placenta and the baby`s blood. Examination at 6 weeks showed appropriate growth and development. Data from published cases predict that this baby will be mentally retarded and may have seizures because he is tetrasomic for 15pter-q13, but will not have Prader-Willi or Angelman syndromes since he has biparental inheritance of his normal No. 15s. However, the published cases may represent a biased sample as most were identified in mentally retarded individuals, not by prenatal diagnosis. This infant`s development will continue to be followed closely.

  17. Quick guide Male pregnancy

    E-print Network

    Avise, John

    ! Male pregnancy is an alien concept to us mammals. Yet this phenomenon is the universal reproductive systems and sexual selection. Male pregnancy may even facilitate the creation of new species. SeahorsesMagazine R791 Quick guide Male pregnancy Adam G. Jones1 and John C. Avise2 Don't try this at home

  18. Smith-Magneis syndrome: behavioural phenotype mimics ADHD

    PubMed Central

    Gnanavel, Sundar

    2014-01-01

    A mentally retarded 7-year-old male child presented with inattention and hyperactivity which was initially diagnosed as attention deficit hyperactivity disorder (ADHD). However, a careful evaluation of symptomatology along with clues provided by specific features of facial dysmorphism in this case along with genetic testing clinched the diagnosis of Smith-Magneis syndrome the behavioural phenotype of which closely resembles ADHD. PMID:24395876

  19. Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18

    SciTech Connect

    Franceschini, P.; Guala, A.; Camerano, P.; Franceschini, D.; Vardeu, M.P.; Signorile, F.

    1996-03-01

    We report on a girl with Ullrich-Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich-Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18. 13 refs., 2 figs., 1 tab.

  20. 47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

    PubMed Central

    Bardsley, Martha Zeger; Kowal, Karen; Levy, Carly; Gosek, Ania; Ayari, Natalie; Tartaglia, Nicole; Lahlou, Najiba; Winder, Breanna; Grimes, Shannon; Ross, Judith L.

    2014-01-01

    Objective To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult. Study design This is a cross-sectional descriptive study of male subjects with XYY who were evaluated at 1 of 2 specialized academic sites. Subjects underwent a history, physical examination, laboratory testing, and cognitive/behavioral evaluation. Results In 90 males with XYY (mean age 9.6 ± 5.3 years [range 0.5-36.5]), mean height SD was above average (1.0 ± 1.2 SD). Macrocephaly (head circumference >2 SD) was noted in 28/84 (33%), hypotonia in 57/90 (63%), clinodactyly in 47/90 (52%), and hypertelorism in 53/90 (59%). There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic differences were seen in boys diagnosed prenatally vs postnatally. Testosterone, luteinizing hormone, and follicle stimulating hormone levels were in the normal range in most boys. There was an increased incidence of asthma, seizures, tremor, and autistic spectrum disorder (ASD) compared with the general population rates. Prenatally diagnosed boys scored significantly better on cognitive testing and were less likely to be diagnosed with ASD (P < .01). Conclusions The XYY phenotype commonly includes tall stature, macrocephaly, macroorchidism, hypotonia, hypertelorism, and tremor. Physical phenotypic features were similar in boys diagnosed prenatally vs postnatally. Prenatal diagnosis was associated with higher cognitive function and less likelihood of an ASD diagnosis. PMID:23810129

  1. Plant Phenotype Characterization System

    SciTech Connect

    Daniel W McDonald; Ronald B Michaels

    2005-09-09

    This report is the final scientific report for the DOE Inventions and Innovations Project: Plant Phenotype Characterization System, DE-FG36-04GO14334. The period of performance was September 30, 2004 through July 15, 2005. The project objective is to demonstrate the viability of a new scientific instrument concept for the study of plant root systems. The root systems of plants are thought to be important in plant yield and thus important to DOE goals in renewable energy sources. The scientific study and understanding of plant root systems is hampered by the difficulty in observing root activity and the inadequacy of existing root study instrumentation options. We have demonstrated a high throughput, non-invasive, high resolution technique for visualizing plant root systems in-situ. Our approach is based upon low-energy x-ray radiography and the use of containers and substrates (artificial soil) which are virtually transparent to x-rays. The system allows us to germinate and grow plant specimens in our containers and substrates and to generate x-ray images of the developing root system over time. The same plant can be imaged at different times in its development. The system can be used for root studies in plant physiology, plant morphology, plant breeding, plant functional genomics and plant genotype screening.

  2. Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    PubMed Central

    Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E.; Hughes, Beverly A.; Rose, Ian T.; O'Neil, Donna M.; Vijzelaar, Raymon; Smith, Matthew J.; MacDonald, Fiona; Cole, Trevor R.; Adolphs, Nicolai; Barton, John S.; Blair, Edward M.; Braddock, Stephen R.; Collins, Felicity; Cragun, Deborah L.; Dattani, Mehul T.; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E.; Gregory, John W.; Haim, Michaela; Harrison, Rachel; Haskins Olney, Ann; Hauffa, Berthold P.; Hindmarsh, Peter C.; Hopkin, Robert J.; Jira, Petr E.; Kempers, Marlies; Kerstens, Michiel N.; Khalifa, Mohamed M.; Köhler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M.; Roth, Christian L.; Shane, Kate P.; Silink, Martin; Stikkelbroeck, Nike M. M. L.; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R.; Williamson, Lori; Hartmann, Michaela F.; Taylor, Norman F.; Wudy, Stefan A.; Malunowicz, Ewa M.; Shackleton, Cedric H. L.

    2012-01-01

    Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available. Objective: The objective of the study was to establish genotype-phenotype correlations in a large PORD cohort. Design: The design of the study was the clinical, biochemical, and genetic assessment including multiplex ligation-dependent probe amplification (MLPA) in 30 PORD patients from 11 countries. Results: We identified 23 P450 oxidoreductase (POR) mutations (14 novel) including an exonic deletion and a partial duplication detected by MLPA. Only 22% of unrelated patients carried homozygous POR mutations. p.A287P was the most common mutation (43% of unrelated alleles); no other hot spot was identified. Urinary steroid profiling showed characteristic PORD metabolomes with variable impairment of 17?-hydroxylase and 21-hydroxylase. Short cosyntropin testing revealed adrenal insufficiency in 89%. DSD was present in 15 of 18 46,XX and seven of 12 46,XY individuals. Homozygosity for p.A287P was invariably associated with 46,XX DSD but normal genitalia in 46,XY individuals. The majority of patients with mild to moderate skeletal malformations, assessed by a novel scoring system, were compound heterozygous for missense mutations, whereas nearly all patients with severe malformations carried a major loss-of-function defect on one of the affected alleles. Conclusions: We report clinical, biochemical, and genetic findings in a large PORD cohort and show that MLPA is a useful addition to POR mutation analysis. Homozygosity for the most frequent mutation in Caucasians, p.A287P, allows for prediction of genital phenotype and moderate malformations. Adrenal insufficiency is frequent, easily overlooked, but readily detected by cosyntropin testing. PMID:22162478

  3. Magnetic-field-induced Heisenberg to XY crossover in a quasi-2D quantum antiferromagnet

    NASA Astrophysics Data System (ADS)

    Fortune, N. A.; Hannahs, S. T.; Landee, C. P.; Turnbull, M. M.; Xiao, F.

    2014-12-01

    The magnetic-field-dependent ordering temperature of the quasi-2D quantum Heisenberg antiferromagnet (QHAF) Cu(pz)2(ClO4)2 was determined by calorimetric measurement in applied dc fields up to 33 tesla. The magnetic phase diagram shows a round maximum at 5.95 K and 17.5 T (at ? 1/3 of its saturation field), a 40 percent enhancement of the ordering temperature above the zero field value of 4.25 K. The enhancement and reentrance are consistent with predictions of a field-induced Heisenberg to XY crossover behavior for an ideal 2D QHAF system.

  4. [Hyperspectral acquisition system for tongue inspection based on X-Y scanning galvanometer].

    PubMed

    Li, Gang; Zhao, Jing; Lin, Ling; Zhang, Bao-ju

    2011-12-01

    Hyperspectral was used for tongue inspection in the present work to resolve the problem that information of current research for tongue inspection was inadequate. A hyperspectral acquisition system based on X-Y scanning galvanometer was also proposed due to the high cost of the current hyperspectral apparatus. An experiment was made to test the ability of this system. By collecting the hyperspectral information of color pictures with size similar to the tongue, the results of experiment showed that this system can acquire more information of tongue than other methods, and this method can provide a new way for tongue inspection. PMID:22295792

  5. Potential Energy Landscapes for the 2D XY Model: Minima, Transition States and Pathways

    E-print Network

    Dhagash Mehta; Ciaran Hughes; Mario Schröck; David J. Wales

    2013-11-22

    We describe a numerical study of the potential energy landscape for the two-dimensional XY model (with no disorder), considering up to 100 spins and CPU and GPU implementations of local optimization, focusing on minima and saddles of index one (transition states). We examine both periodic and anti-periodic boundary conditions, and show that the number of stationary points located increases exponentially with increasing lattice size. The corresponding disconnectivity graphs exhibit funneled landscapes; the global minima are readily located because they exhibit relatively large basins of attraction compared to the higher energy minima as the lattice size increases.

  6. Geometric phase and phase diagram for a non-Hermitian quantum XY model

    NASA Astrophysics Data System (ADS)

    Zhang, X. Z.; Song, Z.

    2013-10-01

    We study the geometric phase for the ground state of a generalized one-dimensional non-Hermitian quantum XY model, which has transverse-field-dependent intrinsic rotation-time reversal symmetry. Based on the exact solution, this model is shown to have a full real spectrum in multiple regions for the finite-size system. The result indicates that the phase diagram or exceptional boundary which separates the unbroken- and broken-symmetry regions corresponds to the divergence of the Berry curvature. The scaling behaviors of the ground-state energy and Berry curvature are obtained in an analytical manner for a concrete system.

  7. First-order transition in the XY model on a fully frustrated simple cubic lattice.

    PubMed

    Ngo, V Thanh; Hoang, D Tien; Diep, H T

    2010-10-01

    We study the nature of the phase transition in the fully frustrated simple cubic lattice with the XY spin model. This system is the Villain's model generalized in three dimensions. The ground state is very particular with a 12-fold degeneracy. Previous studies have shown unusual critical properties. With the powerful Wang-Landau flat-histogram Monte Carlo method, we carry out in this work intensive simulations with very large lattice sizes. We show that the phase transition is clearly of first order, putting an end to the uncertainty which has lasted for more than 20 years. PMID:21230254

  8. On the phase diagram of the anisotropic XY chain in transverse magnetic field

    NASA Astrophysics Data System (ADS)

    Maci??ek, Tomasz; Wojtkiewicz, Jacek

    2016-01-01

    We investigate an explicit formula for ground state energy of the anisotropic XY chain in transverse magnetic field. In particular, we examine the smoothness properties of this expression. We explicitly demonstrate that the ground-state energy is infinitely differentiable on the boundary between ferromagnetic and oscillatory phases. We also confirm known 2d-Ising type behaviour in the neighbourhood of certain lines of phase diagram and give more detailed information there, calculating a few next-to-leading exponents as well as the corresponding amplitudes.

  9. Physical realization of the generalized fully frustrated XY model in an array of SFS junctions

    NASA Astrophysics Data System (ADS)

    Korshunov, S. E.

    2015-08-01

    We show that a physical realization of the phase diagram proposed by Minnhagen et al. [Phys. Rev. B 78, 184432 (2008), 10.1103/PhysRevB.78.184432] for the so-called generalized fully frustrated XY model on a square lattice can be achieved in arrays of superconductor-ferromagnet-superconductor junctions near the transition of the junctions to the ? state. Moreover, the phase diagram with such a topology has to be reproduced twice, on both sides of the 0 -? transition.

  10. Phenotypic mapping and clinical ideology

    SciTech Connect

    Lurie, I.W.; Opitz, J.M.

    1995-07-17

    Scientists have been trying to determine whether the main clinical findings in the 4p deletion syndrome are due to a deletion of one small critical segment, or whether deletions of some particular segments of 4p are responsible for different phenotypic manifestations. This is the basic issue for the whole group of autosomal deletion syndromes, as well as for our understanding of mechanisms of the origin of the abnormal phenotype. All circumstances need to be taken into consideration when trying to apply molecular methods for the mapping of phenotypic findings in the 4p deletion or in any other autosomal deletion syndrome. 8 refs.

  11. Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype

    PubMed Central

    Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Hasegawa, Yukihiro; Morison, Ian M.

    2015-01-01

    Abstract Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype. A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization (FISH) for X and Y chromosomes and immunofluorescence for SRY along with testicular and ovarian lineage markers SOX9 and FOXL2, respectively, were performed on paraffin sections from the gonad to ascertain the somatic mosaic state for 45,X monosomy and 46,XY cells. The gonad consisted of cells with X and XY signals, which were further quantified in comparison with a normal control testis by a digital image analysis program. The average percentages of 45,X cells of this patient's gonad and a control testis were 39.0% and 5.7%, respectively (?2 test, P?XY. PMID:25860218

  12. Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report.

    PubMed

    Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Hasegawa, Yukihiro; Morison, Ian M

    2015-04-01

    Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype. A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization (FISH) for X and Y chromosomes and immunofluorescence for SRY along with testicular and ovarian lineage markers SOX9 and FOXL2, respectively, were performed on paraffin sections from the gonad to ascertain the somatic mosaic state for 45,X monosomy and 46,XY cells. The gonad consisted of cells with X and XY signals, which were further quantified in comparison with a normal control testis by a digital image analysis program. The average percentages of 45,X cells of this patient's gonad and a control testis were 39.0% and 5.7%, respectively (?2 test, P?XY. PMID:25860218

  13. Decoupling in the one-dimensional frustrated quantum [ital XY] model and Josephson-junction ladders: Ising critical behavior

    SciTech Connect

    Granato, E. )

    1993-09-01

    A generalization of the one-dimensional frustrated quantum [ital XY] model is considered in which the interchain and intrachain coupling constants of the two infinite [ital XY] (planar rotor) chains have different strengths. The model can describe the superconductor to insulator transition due to charging effects in a ladder of Josephson junctions in a magnetic field with half a flux quantum per plaquette. From a fluctuation-effective action, this transition is expected to be in the universality class of the two-dimensional classical [ital XY]-Ising model. The critical behavior is studied using a Monte Carlo transfer matrix applied to the path-integral representation of the model and a finite-size-scaling analysis of data on small system sizes. It is found that, unlike the previous studied case of equal interchain and intrachain coupling constants, the [ital XY] and Ising-like excitations of the quantum model decouple for large interchain coupling, giving rise to pure Ising model critical behavior for the chirality order parameter and a superconductor-insulator transition in the universality class of the two-dimensional classical [ital XY] model.

  14. Spawning behaviour and success of mature male Atlantic salmon (Salmo salar) parr of farmed and

    E-print Network

    Hutchings, Jeffrey A.

    Spawning behaviour and success of mature male Atlantic salmon (Salmo salar) parr of farmed and wild genetic differences in the reproduction of an alternative maturation phenotype in Atlantic salmon (Salmo mature male parr raised in similar environments. Parr competed for spawning opportunities in the presence

  15. Masculinization of Gene Expression Is Associated with Exaggeration of Male Sexual Dimorphism

    PubMed Central

    Pointer, Marie A.; Harrison, Peter W.; Wright, Alison E.; Mank, Judith E.

    2013-01-01

    Gene expression differences between the sexes account for the majority of sexually dimorphic phenotypes, and the study of sex-biased gene expression is important for understanding the genetic basis of complex sexual dimorphisms. However, it has been difficult to test the nature of this relationship due to the fact that sexual dimorphism has traditionally been conceptualized as a dichotomy between males and females, rather than an axis with individuals distributed at intermediate points. The wild turkey (Meleagris gallopavo) exhibits just this sort of continuum, with dominant and subordinate males forming a gradient in male secondary sexual characteristics. This makes it possible for the first time to test the correlation between sex-biased gene expression and sexually dimorphic phenotypes, a relationship crucial to molecular studies of sexual selection and sexual conflict. Here, we show that subordinate male transcriptomes show striking multiple concordances with their relative phenotypic sexual dimorphism. Subordinate males were clearly male rather than intersex, and when compared to dominant males, their transcriptomes were simultaneously demasculinized for male-biased genes and feminized for female-biased genes across the majority of the transcriptome. These results provide the first evidence linking sexually dimorphic transcription and sexually dimorphic phenotypes. More importantly, they indicate that evolutionary changes in sexual dimorphism can be achieved by varying the magnitude of sex-bias in expression across a large proportion of the coding content of a genome. PMID:23966876

  16. MOLECULAR MAPPING OF MALE-STERILITY LOCI MS2, AND MS9 IN SOYBEAN

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Identifying molecular and/or phenotypic markers linked to male-sterile, female-fertile genes on the soybean [Glycine max (L.) Merr.] molecular map would facilitate early identification of male-sterile plants in breeding. The objective was to verify the chromosome location of the ms2 (Beeson) mutatio...

  17. Finding Our Way through Phenotypes

    PubMed Central

    Deans, Andrew R.; Lewis, Suzanna E.; Huala, Eva; Anzaldo, Salvatore S.; Ashburner, Michael; Balhoff, James P.; Blackburn, David C.; Blake, Judith A.; Burleigh, J. Gordon; Chanet, Bruno; Cooper, Laurel D.; Courtot, Mélanie; Csösz, Sándor; Cui, Hong; Dahdul, Wasila; Das, Sandip; Dececchi, T. Alexander; Dettai, Agnes; Diogo, Rui; Druzinsky, Robert E.; Dumontier, Michel; Franz, Nico M.; Friedrich, Frank; Gkoutos, George V.; Haendel, Melissa; Harmon, Luke J.; Hayamizu, Terry F.; He, Yongqun; Hines, Heather M.; Ibrahim, Nizar; Jackson, Laura M.; Jaiswal, Pankaj; James-Zorn, Christina; Köhler, Sebastian; Lecointre, Guillaume; Lapp, Hilmar; Lawrence, Carolyn J.; Le Novère, Nicolas; Lundberg, John G.; Macklin, James; Mast, Austin R.; Midford, Peter E.; Mikó, István; Mungall, Christopher J.; Oellrich, Anika; Osumi-Sutherland, David; Parkinson, Helen; Ramírez, Martín J.; Richter, Stefan; Robinson, Peter N.; Ruttenberg, Alan; Schulz, Katja S.; Segerdell, Erik; Seltmann, Katja C.; Sharkey, Michael J.; Smith, Aaron D.; Smith, Barry; Specht, Chelsea D.; Squires, R. Burke; Thacker, Robert W.; Thessen, Anne; Fernandez-Triana, Jose; Vihinen, Mauno; Vize, Peter D.; Vogt, Lars; Wall, Christine E.; Walls, Ramona L.; Westerfeld, Monte; Wharton, Robert A.; Wirkner, Christian S.; Woolley, James B.; Yoder, Matthew J.; Zorn, Aaron M.; Mabee, Paula

    2015-01-01

    Despite a large and multifaceted effort to understand the vast landscape of phenotypic data, their current form inhibits productive data analysis. The lack of a community-wide, consensus-based, human- and machine-interpretable language for describing phenotypes and their genomic and environmental contexts is perhaps the most pressing scientific bottleneck to integration across many key fields in biology, including genomics, systems biology, development, medicine, evolution, ecology, and systematics. Here we survey the current phenomics landscape, including data resources and handling, and the progress that has been made to accurately capture relevant data descriptions for phenotypes. We present an example of the kind of integration across domains that computable phenotypes would enable, and we call upon the broader biology community, publishers, and relevant funding agencies to support efforts to surmount today's data barriers and facilitate analytical reproducibility. PMID:25562316

  18. Finding our way through phenotypes.

    PubMed

    Deans, Andrew R; Lewis, Suzanna E; Huala, Eva; Anzaldo, Salvatore S; Ashburner, Michael; Balhoff, James P; Blackburn, David C; Blake, Judith A; Burleigh, J Gordon; Chanet, Bruno; Cooper, Laurel D; Courtot, Mélanie; Csösz, Sándor; Cui, Hong; Dahdul, Wasila; Das, Sandip; Dececchi, T Alexander; Dettai, Agnes; Diogo, Rui; Druzinsky, Robert E; Dumontier, Michel; Franz, Nico M; Friedrich, Frank; Gkoutos, George V; Haendel, Melissa; Harmon, Luke J; Hayamizu, Terry F; He, Yongqun; Hines, Heather M; Ibrahim, Nizar; Jackson, Laura M; Jaiswal, Pankaj; James-Zorn, Christina; Köhler, Sebastian; Lecointre, Guillaume; Lapp, Hilmar; Lawrence, Carolyn J; Le Novère, Nicolas; Lundberg, John G; Macklin, James; Mast, Austin R; Midford, Peter E; Mikó, István; Mungall, Christopher J; Oellrich, Anika; Osumi-Sutherland, David; Parkinson, Helen; Ramírez, Martín J; Richter, Stefan; Robinson, Peter N; Ruttenberg, Alan; Schulz, Katja S; Segerdell, Erik; Seltmann, Katja C; Sharkey, Michael J; Smith, Aaron D; Smith, Barry; Specht, Chelsea D; Squires, R Burke; Thacker, Robert W; Thessen, Anne; Fernandez-Triana, Jose; Vihinen, Mauno; Vize, Peter D; Vogt, Lars; Wall, Christine E; Walls, Ramona L; Westerfeld, Monte; Wharton, Robert A; Wirkner, Christian S; Woolley, James B; Yoder, Matthew J; Zorn, Aaron M; Mabee, Paula

    2015-01-01

    Despite a large and multifaceted effort to understand the vast landscape of phenotypic data, their current form inhibits productive data analysis. The lack of a community-wide, consensus-based, human- and machine-interpretable language for describing phenotypes and their genomic and environmental contexts is perhaps the most pressing scientific bottleneck to integration across many key fields in biology, including genomics, systems biology, development, medicine, evolution, ecology, and systematics. Here we survey the current phenomics landscape, including data resources and handling, and the progress that has been made to accurately capture relevant data descriptions for phenotypes. We present an example of the kind of integration across domains that computable phenotypes would enable, and we call upon the broader biology community, publishers, and relevant funding agencies to support efforts to surmount today's data barriers and facilitate analytical reproducibility. PMID:25562316

  19. An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation

    PubMed Central

    Çatl?, Gönül; Alparslan, Caner; Can, P. ?ule; Akbay, Sinem; Kelekçi, Sefa; Atik, Tahir; Özy?lmaz, Berk; Dündar, Bumin N.

    2015-01-01

    46,XY pure gonadal dysgenesis (Swyer syndrome) is characterized by normal female genitalia at birth. It usually first becomes apparent in adolescence with delayed puberty and amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A fifteen-year-old girl presented to our clinic with the complaint of primary amenorrhea. On physical examination, her external genitals were completely female. Breast development and pubic hair were compatible with Tanner stage V. Hormonal evaluation revealed a hypergonadotropic state despite a normal estrogen level. Chromosome analysis revealed a 46,XY karyotype. Pelvic ultrasonography showed small gonads and a normal sized uterus for age. SRY gene expression was confirmed by multiplex polymerase chain reaction. Direct sequencing on genomic DNA did not reveal a mutation in the SRY, SF1 and WT1 genes. After the diagnosis of Swyer syndrome was made, the patient started to have spontaneous menstrual cycles and therefore failed to attend her follow-up visits. After nine months, the patient underwent diagnostic laparoscopy. Frozen examination of multiple biopsies from gonad tissues revealed gonadoblastoma. With this report, we emphasize the importance of performing karyotype analysis, which is diagnostic for Swyer syndrome, in all cases with primary or secondary amenorrhea even in the presence of normal breast development. We also suggest that normal pubertal development in patients with Swyer syndrome may be associated with the presence of a hormonally active tumor. PMID:26316442

  20. 2d Affine XY-Spin Model/4d Gauge Theory Duality and Deconfinement

    SciTech Connect

    Anber, Mohamed M.; Poppitz, Erich; Unsal, Mithat; /SLAC /Stanford U., Phys. Dept. /San Francisco State U.

    2012-08-16

    We introduce a duality between two-dimensional XY-spin models with symmetry-breaking perturbations and certain four-dimensional SU(2) and SU(2) = Z{sub 2} gauge theories, compactified on a small spatial circle R{sup 1,2} x S{sup 1}, and considered at temperatures near the deconfinement transition. In a Euclidean set up, the theory is defined on R{sup 2} x T{sup 2}. Similarly, thermal gauge theories of higher rank are dual to new families of 'affine' XY-spin models with perturbations. For rank two, these are related to models used to describe the melting of a 2d crystal with a triangular lattice. The connection is made through a multi-component electric-magnetic Coulomb gas representation for both systems. Perturbations in the spin system map to topological defects in the gauge theory, such as monopole-instantons or magnetic bions, and the vortices in the spin system map to the electrically charged W-bosons in field theory (or vice versa, depending on the duality frame). The duality permits one to use the two-dimensional technology of spin systems to study the thermal deconfinement and discrete chiral transitions in four-dimensional SU(N{sub c}) gauge theories with n{sub f} {ge} 1 adjoint Weyl fermions.

  1. Chiral spin liquid in the frustrated XY model on the honeycomb lattice

    NASA Astrophysics Data System (ADS)

    Sedrakyan, Tigran

    2015-03-01

    A honeycomb lattice allowing hops between nearest- and next-nearest neighbors hosts ``moat'' bands with degenerate energy minima attained along closed lines in Brillouin zone. If populated with hard-core bosons, a variety of unconventional ground states stabilizes. We argue that the degeneracy prevents Bose condensation, stabilizing novel spin liquid phases including composite fermion state and a chiral spin liquid. The latter stabilizes at half-filling, when the system is equivalent to s = 1 / 2 XY model at zero magnetic field. Absence of condensation means no spontaneous polarization in XY plane, however our consideration indicates formation of a state spontaneously breaking the time-reversal symmetry. This state has a bulk gap and chiral gapless edge excitations, and is similar to the one in Haldane's ``quantum Hall effect without Landau levels'' in its topologically nontrivial sector with Chen number C = +/- 1 . The applications of the developed analytical theory include an explanation of recent unexpected numerical findings and a suggestion of a chiral spin liquid realization in experiments with cold atoms in optical lattices.

  2. Density of states of the XY model: An energy landscape approach

    NASA Astrophysics Data System (ADS)

    Nardini, Cesare; Nerattini, Rachele; Casetti, Lapo

    2015-02-01

    Among the stationary configurations of the Hamiltonian of a classical O(n) lattice spin model, a class can be identified which is in one-to-one correspondence with all the configurations of an Ising model defined on the same lattice and with the same interactions. Starting from this observation it has been recently proposed that the microcanonical density of states of an O(n) model could be written in terms of the density of states of the corresponding Ising model. Later, it has been shown that a relation of this kind holds exactly for two solvable models, the mean-field and the one-dimensional XY model, respectively. We apply the same strategy to derive explicit, albeit approximate, expressions for the density of states of the two-dimensional XY model with nearest-neighbor interactions on a square lattice. The caloric curve and the specific heat as a function of the energy density are calculated and compared against simulation data, yielding a good agreement over the entire energy density range.

  3. AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.

    PubMed

    Akcay, T; Fernandez-Cancio, M; Turan, S; Güran, T; Audi, L; Bereket, A

    2014-07-01

    46,XY disorders of sex development (DSD) are caused by disorders of gonadal development, androgen biosynthesis and receptor (AR) defects. Although, clinical/biochemical features help in distinguishing specific aetiologies, there are overlaps which necessitate molecular analyses for the definitive diagnosis. To test precision of our clinical diagnosis of androgen insensitivity (AIS) by analysing AR and then SRD5A2 genes, patients were recruited at Marmara University Hospital and molecular analyses were performed at Vall d'Hebron Research Institute. Among 101 46,XY DSD patients, 46 index and five siblings (nine complete, 42 partial) with clinical/biochemical data suggestive of AIS and stimulated T/DHT ratio <25 were selected. AR and then SRD5A2 genes were sequenced. We detected AR mutations in 11 patients [seven index and four siblings (22% of all and 15% of index patients)] and SRD5A2 mutations in six [five index and one sibling (12% of all and 11% of index)]. AR mutation detection rate was 6/9 in all CAIS and 4/7 in the index (67 and 57% respectively) and 5/42 in all PAIS and 3/40 in the index (12 and 7.5% respectively). The eight mutations detected in the AR gene were as follows: p.Q58L, p.P392S, p.R609K, p.R775H, p.R856H, p.A871A, p.V890M and p.F892L, with p.A871A and p.F892L being novel. Further six patients had SRD5A2 mutations which were as follows: p.L73WfsX59, p.Y91H, p.R171S and p.G196S, the first being novel. Hormonal data in those with AR mutations, SRD5A2 mutations and no mutations were not statistically different. In conclusion, a significant proportion of children with presumptive diagnosis of AIS has a normal AR gene. The less severe the phenotype, the less likely is the chance of demonstrating a mutation. Furthermore, a significant number of children with presumptive diagnosis of AIS have mutations in SRD5A2 gene and are clinically and biochemically indistinguishable from AIS. PMID:24737579

  4. Black Male Rising

    ERIC Educational Resources Information Center

    Feintuch, Howard

    2010-01-01

    The author reports on Ohio's bevy of education initiatives that take aim at helping African-American male students succeed. The Todd Anthony Bell National Resource Center for the African American Male at The Ohio State University is one of several initiatives that help African-American men succeed in Ohio. All the programs focus on individual…

  5. Interdependent effects of male and female body size plasticity on mating behaviour of predatory mites

    PubMed Central

    Walzer, Andreas; Schausberger, Peter

    2015-01-01

    The adaptive canalization hypothesis predicts that traits with low phenotypic plasticity are more fitness relevant, because they have been canalized via strong past selection, than traits with high phenotypic plasticity. Based on differing male body size plasticities of the predatory mites Phytoseiulus persimilis (low plasticity) and Neoseiulus californicus (high plasticity), we accordingly hypothesized that small male body size entails higher costs in female choice and male–male competition in P. persimilis than N. californicus. Males of both species are highly polygynous but females differ in the level of polyandry (low level in P. persimilis; medium level in N. californicus). We videotaped the mating interactions in triplets of either P. persimilis or N. californicus, consisting of a virgin female (small or standard-sized) and a small and a standard-sized male. Mating by both small and standard-sized P. persimilis females was biased towards standard-sized males, resulting from the interplay between female preference for standard-sized males and the inferiority of small males in male–male competition. In contrast, mating by N. californicus females was equally balanced between small and standard-sized males. Small N. californicus males were more aggressive (‘Napoleon complex’) in male–male competition, reducing the likelihood of encounter between the standard-sized male and the female, and thus counterbalancing female preference for standard-sized males. Our results support the hypothesis that male body size is more important to fitness in the low-level polyandrous P. persimilis than in the medium-level polyandrous N. californicus and provide a key example of the implications of sexually selected body size plasticity on mating behaviour. PMID:25673881

  6. Phenotypic consequences of a mosaic marker chromosome identified by fluorescence in situ hybridization (FISH) as being derived from chromosome 16

    SciTech Connect

    Ray, J.H.; Zhou, X.; Pletcher, B.A.

    1994-09-01

    De novo marker chromosomes are detected in 1 in 2500 amniotic fluid samples and are associated with a 10-15% risk for phenotypic abnormality. FISH can be utilized as a research tool to identify the origins of marker chromosomes. The phenotypic consequences of a marker chromosome derived from the short arm of chromosome 16 are described. A 26-year-old woman underwent amniocentesis at 28 weeks gestation because of a prenatally diagnosed tetralogy of Fallot. Follow-up ultrasounds also showed ventriculomegaly and cleft lip and palate. 32 of 45 cells had the karyotype 47,XY,+mar; the remaining cells were 46,XY. The de novo marker chromosome was C-band positive and non-satellited and failed to stain with distamycin A/DAPI. At birth the ultrasound findings were confirmed and dysmorphic features and cryptorchidism were noted. Although a newborn blood sample contained only normal cells, mosaicism was confirmed in 2 skin biopsies. FISH using whole-chromosome painting and alpha-satellite DNA probes showed that the marker chromosome had originated from chromosome 16. As proximal 16q is distamycin A/DAPI positive, the marker is apparently derived from proximal 16p. At 15 months of age, this child is hypotonic, globally delayed and is gavage-fed. His physical examination is significant for microbrachycephaly, a round face, sparse scalp hair, ocular hypertelorism, exotropia, a flat, wide nasal bridge and tip, mild micrognathia, and tapered fingers with lymphedema of hands and feet. Inguinal hernias have been repaired. His features are consistent with those described for patients trisomic for most or all of the short arm of chromosome 16. Marker chromosomes derived from the short arm of chromosome 16 appear to have phenotypic consequences. As the origin of more marker chromosomes are identified using FISH, their karyotype/phenotype correlations will become more apparent, which will permit more accurate genetic counseling.

  7. Inbreeding depression in male gametic performance.

    PubMed

    Losdat, S; Chang, S-M; Reid, J M

    2014-06-01

    One key objective in evolutionary ecology is to understand the magnitude of inbreeding depression expressed across sex-specific components of fitness. One major component of male fitness is fertilization success, which depends on male gametic performance (sperm and pollen performance in animals and plants, respectively). Inbreeding depression in male gametic performance could create sex-specific inbreeding depression in fitness, increase the benefit of inbreeding avoidance and reduce the efficacy of artificial insemination and pollination. However, there has been no assessment of the degree to which inbreeding generally depresses male gametic performance and hence post-copulatory or post-pollination fertilization success. Because inbreeding depression is understood to be a property of diploid entities, it is not clear what degree of inbreeding depression in haploid gametic performance should be expected. Here, we first summarize how inbreeding depression in male gametic performance could potentially arise through gene expression in associated diploid cells and/or reduced genetic diversity among haploid gametes. We then review published studies that estimate the magnitude of inbreeding depression in traits measuring components of sperm or pollen quantity, quality and competitiveness. Across 51 published studies covering 183 study traits, the grand mean inbreeding load was approximately one haploid lethal equivalent, suggesting that inbreeding depresses male gametic performance across diverse systems and traits. However, there was an almost complete lack of explicit estimates from wild populations. Future studies should quantify inbreeding depression in systematic sets of gametic traits under naturally competitive and noncompetitive conditions and quantify the degree to which gamete phenotypes and performance reflect haploid vs. diploid gene expression. PMID:24820115

  8. What Does f[subscript xx]f[subscript yy] - f[superscript 2][subscript xy] Greater than 0 "Really" Mean?

    ERIC Educational Resources Information Center

    McCartin, Brian J.

    2008-01-01

    This note presents geometric and physical interpretations of the sufficient condition for a critical point to be a strict relative extremum: f[subscript xx]f[subscript yy] - f[superscript 2][subscript xy] greater than 0. The role of the double derivative f[subscript xy] in this inequality will be highlighted in these interpretations. (Contains 14…

  9. Fully frustrated XY model with next-nearest-neighbor interaction Giancarlo Franzese,1,2,3,* Vittorio Cataudella,1,2

    E-print Network

    Franzese, Giancarlo

    ,9 and Monte Carlo MC simulations.10­14 The complete scenario is not fully understood yet. There are nuFully frustrated XY model with next-nearest-neighbor interaction Giancarlo Franzese,1 frustrated XY model with nearest-neighbor NN and next-nearest-neighbor NNN couplings which can be realized

  10. INTERACTIVE EFFECTS OF VINCLOZOLIN AND TESTOSTERONE PROPIONATE ON PREGNANCY AND SEXUAL DIFFERENTIATION OF THE MALE AND FEMALE SD RAT

    EPA Science Inventory

    ABSTRACT
    Sufficient levels of androgens during fetal sexual differentiation in the mammal produces the male phenotype, and the absence of androgens or the dysfunction of the androgen receptor can produce the female phenotype. In previous studies in our laboratory, adminis...

  11. Optofluidic Detection for Cellular Phenotyping

    PubMed Central

    Tung, Yi-Chung; Huang, Nien-Tsu; Oh, Bo-Ram; Patra, Bishnubrata; Pan, Chi-Chun; Qiu, Teng; Paul, K. Chu; Zhang, Wenjun; Kurabayashi, Katsuo

    2012-01-01

    Quantitative analysis of the output of processes and molecular interactions within a single cell is highly critical to the advancement of accurate disease screening and personalized medicine. Optical detection is one of the most broadly adapted measurement methods in biological and clinical assays and serves cellular phenotyping. Recently, microfluidics has obtained increasing attention due to several advantages, such as small sample and reagent volumes, very high throughput, and accurate flow control in the spatial and temporal domains. Optofluidics, which is the attempt to integrate optics with microfluidic, shows great promise to enable on-chip phenotypic measurements with high precision, sensitivity, specificity, and simplicity. This paper reviews the most recent developments of optofluidic technologies for cellular phenotyping optical detection. PMID:22854915

  12. Sudden death, birth and stable entanglement in a two-qubit Heisenberg XY spin chain

    E-print Network

    Chuan-Jia Shan; Wei-Wen Cheng; Tang-Kun Liu; Ji-Bing Liu; Hua Wei

    2008-08-31

    Taking the decoherence effect due to population relaxation into account, we investigate the entanglement properties for two qubits in the Heisenberg XY interaction and subject to an external magnetic field. It is found that the phenomenon of entanglement sudden death (ESD) as well as sudden birth(ESB) appear during the evolution process for particular initial states. The influence of the external magnetic field and the spin environment on ESD and ESB are addressed in detail. It is shown that the concurrence, a measure of entanglement, can be controlled by tuning the parameters of the spin chain, such as the anisotropic parameter, external magnetic field, and the coupling strength with their environment. In particular, we find that a critical anisotropy constant exists, above which ESB vanishes while ESD appears. It is also notable that stable entanglement, which is independent of different initial states of the qubits, occurs even in the presence of decoherence.

  13. Potential Energy Landscape of the Two-Dimensional XY Model: Higher-Index Stationary Points

    E-print Network

    Dhagash Mehta; Ciaran Hughes; Michael Kastner; David J Wales

    2014-12-10

    The application of numerical techniques to the study of energy landscapes of large systems relies on sufficient sampling of the stationary points. Since the number of stationary points is believed to grow exponentially with system size, we can only sample a small fraction. We investigate the interplay between this restricted sample size and the physical features of the potential energy landscape for the two-dimensional $XY$ model in the absence of disorder with up to $N=100$ spins. Using an eigenvector-following technique, we numerically compute stationary points with a given Hessian index $I$ for all possible values of $I$. We investigate the number of stationary points, their energy and index distributions, and other related quantities, with particular focus on the scaling with $N$. The results are used to test a number of conjectures and approximate analytic results for the general properties of energy landscapes.

  14. Population-Specific Covariation between Immune Function and Color of Nesting Male Threespine Stickleback

    PubMed Central

    Bolnick, Daniel I.; Shim, Kum Chuan; Schmerer, Matthew; Brock, Chad D.

    2015-01-01

    Multiple biological processes can generate sexual selection on male visual signals such as color. For example, females may prefer colorful males because those males are more readily detected (perceptual bias), or because male color conveys information about male quality and associated direct or indirect benefits to females. For example, male threespine stickleback often exhibit red throat coloration, which females prefer both because red is more visible in certain environments, and red color is correlated with male immune function and parasite load. However, not all light environments favor red nuptial coloration: more tannin-stained water tends to favor the evolution of a melanic male phenotype. Do such population differences in stickleback male color, driven by divergent light environments, lead to changes in the relationship between color and immunity? Here, we show that, within stickleback populations, multiple components of male color (brightness and hue of four body parts) are correlated with multiple immune variables (ROS production, phagocytosis rates, and lymphocyte:leukocyte ratios). Some of these color-immune associations persist across stickleback populations with very different male color patterns, whereas other color-immune associations are population-specific. Overall, lakes with red males exhibit stronger color-immune covariance while melanic male populations exhibit weak if any color-immune associations. Our finding that color-immunity relationships are labile implies that any evolution of male color traits (e.g., due to female perceptual bias in a given light environment), can alter the utility of color as an indicator of male quality. PMID:26039044

  15. Bladder catheterization, male (image)

    MedlinePLUS

    ... kept empty (decompressed) and urinary flow assured. The balloon holds the catheter in place for a duration of time. Catheterization in males is slightly more difficult and uncomfortable than in females because of the longer urethra.

  16. Breast enlargement in males

    MedlinePLUS

    Gynecomastia; Breast enlargement in a male ... Ali O, Donohue PA. Gynecomastia. In: Kliegman RM, Stanton BF, Geme JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics . 19th ed. Philadelphia, PA: ...

  17. Causes of Male Infertility

    MedlinePLUS Videos and Cool Tools

    ... Roger Lobo of the American Society for Reproductive Medicine covers causes of male infertility. "Understanding Infertility - The ... videos produced for the American Society for Reproductive Medicine. Looking for Additional Information? Visit our provider site ...

  18. Males and Eating Disorders

    MedlinePLUS

    ... Bar Home Current Issue Past Issues Males and Eating Disorders Past Issues / Spring 2008 Table of Contents For ... this page please turn Javascript on. Photo: PhotoDisc Eating disorders primarily affect girls and women, but boys and ...

  19. Defective pollen wall contributes to male sterility in the male sterile line 1355A of cotton

    PubMed Central

    Wu, Yuanlong; Min, Ling; Wu, Zancheng; Yang, Li; Zhu, Longfu; Yang, Xiyan; Yuan, Daojun; Guo, Xiaoping; Zhang, Xianlong

    2015-01-01

    To understand the mechanisms of male sterility in cotton (Gossypium spp.), combined histological, biochemical and transcription analysis using RNA-Seq was carried out in the anther of the single-gene recessive genic male sterility system of male sterile line 1355A and male fertile line 1355B, which are near-isogenic lines (NILs) differing only in the fertility trait. A total of 2,446 differentially expressed genes were identified between the anthers of 1355AB lines, at three different stages of development. Cluster analysis and functional assignment of differentially expressed genes revealed differences in transcription associated with pollen wall and anther development, including the metabolism of fatty acids, glucose, pectin and cellulose. Histological and biochemical analysis revealed that a major cellular defect in the 1355A was a thicker nexine, consistent with the RNA-seq data, and further gene expression studies implicated differences in fatty acids synthesis and metabolism. This study provides insight into the phenotypic characteristics and gene regulatory network of the genic male sterile line 1355A in upland cotton. PMID:26043720

  20. Local quantum criticality in the two-dimensional dissipative quantum XY model

    NASA Astrophysics Data System (ADS)

    Zhu, Lijun; Chen, Yan; Varma, Chandra M.

    2015-05-01

    We use quantum Monte Carlo simulations to calculate the phase diagram and the correlation functions for the quantum phase transitions in the two-dimensional dissipative quantum XY model with and without fourfold anisotropy. Without anisotropy, the model describes the superconductor-to-insulator transition in two-dimensional dirty superconductors. With anisotropy, the model represents the loop-current order observed in the underdoped cuprates and its fluctuations, as well as the fluctuations near the ordering vector in simple models of two-dimensional itinerant ferromagnets and itinerant antiferromagnets. These calculations test an analytic solution of the model which reexpressed it in terms of topological excitations: the vortices with interactions only in space but none in time, and warps with leading interactions only in time but none in space, as well as subleading interactions which are both space and time dependent. For parameters where the proliferation of warps dominates the phase transition, the critical fluctuations as functions of the deviation of the dissipation parameter ? on the disordered side from its critical value ?c are scale invariant in imaginary time ? as the correlation length in time ??=?ce[?c/(?c-? ) ] 1 /2 diverges, where ?c is a short-time cutoff. On the other hand, the spatial correlations develop with a correlation length ?x??0ln(??) , with ?0 of the order of a lattice constant. The dynamic correlation exponent z is therefore ? . The Monte Carlo calculations also directly show warps and vortices. Their densities and correlations across the various transitions in the model are calculated and related to those of the order-parameter correlations in the dissipative quantum XY model.

  1. High Fetal Estrogen Concentrations: Correlation with Increased Adult Sexual Activity and Decreased Aggression in Male Mice

    NASA Astrophysics Data System (ADS)

    Vom Saal, Frederick S.; Grant, William M.; McMullen, Carol W.; Laves, Kurt S.

    1983-06-01

    In the house mouse (Mus musculus), fetuses may develop in utero next to siblings of the same or opposite sex. The amniotic fluid of the female fetuses contains higher concentrations of estradiol than that of male fetuses. Male fetuses that developed in utero between female fetuses had higher concentrations of estradiol in their amniotic fluid than males that were located between other male fetusesw during intrauterine development. They were also more sexually active as adults, less aggressive, and had smaller seminal vesicles than males that had developed between other male fetuses in utero. These findings raise the possibility that during fetal life circulating estrogens may interact with circulating androgens both in regulating the development of sex differences between males and females and in producing variation in phenotype among males and among females.

  2. Continuous phase transition of a fully frustrated XY model in three dimensions Kwangmoo Kim and David Stroud

    E-print Network

    Stroud, David

    February 2006; revised manuscript received 11 April 2006; published 6 June 2006 We have used Monte Carlo undergoes a continuous phase transition in d=2 was given by Teitel and Jayaprakash,4 using Monte Carlo MCContinuous phase transition of a fully frustrated XY model in three dimensions Kwangmoo Kim

  3. Assessment of Male Reproductive Toxicity##

    EPA Science Inventory

    This review covers all aspects of male reproductive toxicology. It begins with an overview of male reproductive biology and then transitions to the considerations of conducting male reproductive toxicology studies. We discuss multigenerational study as proposed in EPAs harmoniz...

  4. Measurement Equivalence of the Autism Symptom Phenotype in Children and Youth

    ERIC Educational Resources Information Center

    Duku, Eric; Szatmari, Peter; Vaillancourt, Tracy; Georgiades, Stelios; Thompson, Ann; Liu, Xiao-Qing; Paterson, Andrew D.; Bennett, Terry

    2013-01-01

    Background: The Autism Diagnostic Interview-Revised (ADI-R) is a gold standard assessment of Autism Spectrum Disorder (ASD) symptoms and behaviours. A key underlying assumption of studies using the ADI-R is that it measures the same phenotypic constructs across different populations (i.e. males/females, younger/older, verbal/nonverbal). The…

  5. CARDIAC-LIKE OSCILLATION IN LIVER STEM CELLS INDUCE THEIR ACQUISITION OF CARDIAC PHENOTYPE

    EPA Science Inventory

    We examined in a cardiac microenvironment the plasticity of a liver stem cell line (WB F344) generated from a cloned, single, non-parenchymal epithelial cell from a normal adult male rat. Our previous studies suggested that WB F344 cells acquire a cardiac phenotype in the absenc...

  6. Divergent selection and phenotypic plasticity during incipient speciation in Lake Victoria cichlid fish

    E-print Network

    Divergent selection and phenotypic plasticity during incipient speciation in Lake Victoria cichlid., in press). Utilizing this theoretical framework, we studied a pair of sister species of Lake Victoria islands in Lake Victoria (Seehausen & van Alphen, 1999). The species differ primarily in male breeding

  7. Phenotypic Checklist To Screen for Fragile X Syndrome in People with Mental Retardation.

    ERIC Educational Resources Information Center

    Maes, B.; Fryns, J. P.; Ghesquiere, P.; Borghgraef, M.

    2000-01-01

    A study investigated the effectiveness of a phenotypic checklist for identifying 110 males with fragile X syndrome and 79 controls, matched for age, level of cognitive development, and social adaptation. Results indicated that those boys who are likely to be diagnosed as having fragile X syndrome can be identified. (Contains references.)…

  8. ARE WITHIN-SEX MATING STRATEGY PHENOTYPES AN EVOLUTIONARY STABLE STRATEGY?

    PubMed Central

    Wlodarski, Rafael; Dunbar, Robin I. M.

    2015-01-01

    Humans have been found to display considerable variety in their pursuit of mating strategies, varying in their preference for short-term mating encounters versus established long-term relationships. While we know that differences in mating strategy exist between the two sexes (as predicted by parental investment theory), it has recently been shown that each sex may further exhibit two mating phenotypes. Here we explore the possibility that the presence of two phenotypes may be frequency dependent, thus comprising an Evolutionary Stable Strategy (ESS). We suggest that the presence of these phenotypes reflects a compromise between male preference for promiscuity and a female preference in favour of long-term mating by males. PMID:26191498

  9. Stay or stray? Evidence for alternative mating strategy phenotypes in both men and women

    PubMed Central

    Wlodarski, Rafael; Manning, John; Dunbar, R. I. M.

    2015-01-01

    In all comparative analyses, humans always fall on the borderline between obligate monogamy and polygamy. Here, we use behavioural indices (sociosexuality) and anatomical indices (prenatal testosterone exposure indexed by 2D : 4D digit ratio) from three human populations to show that this may be because there are two distinct phenotypes in both sexes. While males are more promiscuous and display higher prenatal testosterone exposure than females overall, our analyses also suggest that the within-sex variation of these variables is best described by two underlying mixture models, suggesting the presence of two phenotypes with a monogamous/promiscuous ratio that slightly favours monogamy in females and promiscuity in males. The presence of two phenotypes implies that mating strategy might be under complex frequency-dependent selection. PMID:25652222

  10. Morphology and Immunohistochemical Phenotype of the Thymus in Secondary Immunodeficiency.

    PubMed

    Struchko, G Yu; Merkulova, L M; Moskvichev, E V; Kostrova, O Yu; Mikhailova, M N; Drandrova, E G

    2015-10-01

    The thymus of outbred male rats 5 months after splenectomy (experimental secondary immunodeficiency) was studied by common histological and immunohistochemical methods using monoclonal and polyclonal antibodies to CD3, CD30, CD68, synaptophysin, to S100, p53, bcl-2, and Ki-67 proteins. Removal of the spleen led to acute involution of the thymic parenchyma, which was replaced by the adipose tissue and was associated with restructuring of the thymopoietic and nonthymopoietic components of the gland, changes in cellular composition and antigenic phenotype of the lobular cortical and medullary matter, and by reduction of cell proliferation. PMID:26519276

  11. Treatment of male infertility.

    PubMed

    Palermo, Gianpiero D; Kocent, Justin; Monahan, Devin; Neri, Queenie V; Rosenwaks, Zev

    2014-01-01

    Major difficulties exist in the accurate and meaningful diagnosis of male reproductive dysfunction, and our understanding of the epidemiology and etiology of male infertility has proven quite complex.The numerous spermatozoa produced in mammals and other species provides some degree of protection against adverse environmental conditions represented by physical and chemical factors that can reduce reproductive function and increase gonadal damage even resulting in testicular cancer or congenital malformations. The wide fluctuations of sperm production in men, both geographical and temporal, may reflect disparate environmental exposures, occurring on differing genetic backgrounds, in varying psychosocial conditions, and leading to the diversified observed outcomes.Sperm analysis is still the cornerstone in diagnosis of male factor infertility, indeed, individually compromised semen paramaters while adequately address therapeutic practices is progressively flanked by additional tests. Administration of drugs, IUI, correction of varicocele, and, to a certain extent, IVF although they may not be capable of restoring fertility itself often result in childbearing. PMID:24782020

  12. Postnatal Testosterone Concentrations and Male Social Development

    PubMed Central

    Alexander, Gerianne M.

    2014-01-01

    Converging evidence from over 40?years of behavioral research indicates that higher testicular androgens in prenatal life and at puberty contribute to the masculinization of human behavior. However, the behavioral significance of the transient activation of the hypothalamic–pituitary–gonadal (HPG) axis in early postnatal life remains largely unknown. Although early research on non-human primates indicated that suppression of the postnatal surge in testicular androgens had no measurable effects on the later expression of the male behavioral phenotype, recent research from our laboratory suggests that postnatal testosterone concentrations influence male infant preferences for larger social groups and temperament characteristics associated with the later development of aggression. In later assessment of gender-linked behavior in the second year of life, concentrations of testosterone at 3–4?months of age were unrelated to toy choices and activity levels during toy play. However, higher concentrations of testosterone predicted less vocalization in toddlers and higher parental ratings on an established screening measure for autism spectrum disorder. These findings suggest a role of the transient activation of the HPG axis in the development of typical and atypical male social relations and suggest that it may be useful in future research on the exaggerated rise in testosterone secretion in preterm infants or exposure to hormone disruptors in early postnatal life to include assessment of gender-relevant behavioral outcomes, including childhood disorders with sex-biased prevalence rates. PMID:24600437

  13. Towards improving phenotype representation in OWL

    E-print Network

    Loebe, Frank; Stumpf, Frank; Hoehndorf, Robert; Herre, Heinrich

    2012-09-21

    known [3]. To standardize the terminology used in describing phenotypes, multiple species- specific phenotype ontologies were developed. For example, the Mammalian Phenotype Ontology (MP) [4,5] is used to characterize phenotypes in mice and other mammals... by verbs, participles can be used as role names in many cases. Admittedly, that approach likely requires manual care and checking, e.g. remembering the remarks on misinterpret- ing the roles of concentration of (PATO:0000033) in the section Ontological...

  14. Perception Viewed as a Phenotypic Expression Perception Viewed as a Phenotypic Expression

    E-print Network

    Perception Viewed as a Phenotypic Expression 1 Perception Viewed as a Phenotypic Expression Dennis Cybernetics Proffitt, D.R. and Linkenauger, S.A. (in press). Perception viewed as a phenotypic expression: Perception Viewed as a Phenotypic Expression Correspondence: Dennis Proffitt Department of Psychology

  15. Understanding African American Males

    ERIC Educational Resources Information Center

    Bell, Edward Earl

    2010-01-01

    The purpose of this study was to assess the socialization skills, self-esteem, and academic readiness of African American males in a school environment. Discussions with students and the School Perceptions Questionnaire provided data for this investigation. The intended targets for this investigation were African American students; however, there…

  16. [Plasticity of the cellular phenotype].

    PubMed

    Chneiweiss, Hervé

    2011-01-01

    The tragical consequences of the Hiroshima and Nagasaki atomic bombs in 1945 were to lead to the discovery of hematopoietic stem cells and their phenotypic plasticity, in response to environmental factors. These concepts were much later extended to the founding cells of other tissues. In the following collection of articles, the mechanisms underlying this plasticity, at the frontiers of developmental biology and oncology, are illustrated in the case of various cell types of neural origin and of some tumours. PMID:21501574

  17. Statistical models for trisomic phenotypes

    SciTech Connect

    Lamb, N.E.; Sherman, S.L.; Feingold, E.

    1996-01-01

    Certain genetic disorders are rare in the general population but more common in individuals with specific trisomies, which suggests that the genes involved in the etiology of these disorders may be located on the trisomic chromosome. As with all aneuploid syndromes, however, a considerable degree of variation exists within each phenotype so that any given trait is present only among a subset of the trisomic population. We have previously presented a simple gene-dosage model to explain this phenotypic variation and developed a strategy to map genes for such traits. The mapping strategy does not depend on the simple model but works in theory under any model that predicts that affected individuals have an increased likelihood of disomic homozygosity at the trait locus. This paper explores the robustness of our mapping method by investigating what kinds of models give an expected increase in disomic homozygosity. We describe a number of basic statistical models for trisomic phenotypes. Some of these are logical extensions of standard models for disomic phenotypes, and some are more specific to trisomy. Where possible, we discuss genetic mechanisms applicable to each model. We investigate which models and which parameter values give an expected increase in disomic homozygosity in individuals with the trait. Finally, we determine the sample sizes required to identify the increased disomic homozygosity under each model. Most of the models we explore yield detectable increases in disomic homozygosity for some reasonable range of parameter values, usually corresponding to smaller trait frequencies. It therefore appears that our mapping method should be effective for a wide variety of moderately infrequent traits, even though the exact mode of inheritance is unlikely to be known. 21 refs., 8 figs., 1 tab.

  18. Developmental stress increases reproductive success in male zebra finches

    PubMed Central

    Crino, Ondi L.; Prather, Colin T.; Driscoll, Stephanie C.; Good, Jeffrey M.; Breuner, Creagh W.

    2014-01-01

    There is increasing evidence that exposure to stress during development can have sustained effects on animal phenotype and performance across life-history stages. For example, developmental stress has been shown to decrease the quality of sexually selected traits (e.g. bird song), and therefore is thought to decrease reproductive success. However, animals exposed to developmental stress may compensate for poor quality sexually selected traits by pursuing alternative reproductive tactics. Here, we examine the effects of developmental stress on adult male reproductive investment and success in the zebra finch (Taeniopygia guttata). We tested the hypothesis that males exposed to developmental stress sire fewer offspring through extra-pair copulations (EPCs), but invest more in parental care. To test this hypothesis, we fed nestlings corticosterone (CORT; the dominant avian stress hormone) during the nestling period and measured their adult reproductive success using common garden breeding experiments. We found that nestlings reared by CORT-fed fathers received more parental care compared with nestlings reared by control fathers. Consequently, males fed CORT during development reared nestlings in better condition compared with control males. Contrary to the prediction that developmental stress decreases male reproductive success, we found that CORT-fed males also sired more offspring and were less likely to rear non-genetic offspring compared with control males, and thus had greater overall reproductive success. These data are the first to demonstrate that developmental stress can have a positive effect on fitness via changes in reproductive success and provide support for an adaptive role of developmental stress in shaping animal phenotype. PMID:25297860

  19. Developmental stress increases reproductive success in male zebra finches.

    PubMed

    Crino, Ondi L; Prather, Colin T; Driscoll, Stephanie C; Good, Jeffrey M; Breuner, Creagh W

    2014-11-22

    There is increasing evidence that exposure to stress during development can have sustained effects on animal phenotype and performance across life-history stages. For example, developmental stress has been shown to decrease the quality of sexually selected traits (e.g. bird song), and therefore is thought to decrease reproductive success. However, animals exposed to developmental stress may compensate for poor quality sexually selected traits by pursuing alternative reproductive tactics. Here, we examine the effects of developmental stress on adult male reproductive investment and success in the zebra finch (Taeniopygia guttata). We tested the hypothesis that males exposed to developmental stress sire fewer offspring through extra-pair copulations (EPCs), but invest more in parental care. To test this hypothesis, we fed nestlings corticosterone (CORT; the dominant avian stress hormone) during the nestling period and measured their adult reproductive success using common garden breeding experiments. We found that nestlings reared by CORT-fed fathers received more parental care compared with nestlings reared by control fathers. Consequently, males fed CORT during development reared nestlings in better condition compared with control males. Contrary to the prediction that developmental stress decreases male reproductive success, we found that CORT-fed males also sired more offspring and were less likely to rear non-genetic offspring compared with control males, and thus had greater overall reproductive success. These data are the first to demonstrate that developmental stress can have a positive effect on fitness via changes in reproductive success and provide support for an adaptive role of developmental stress in shaping animal phenotype. PMID:25297860

  20. De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24).

    PubMed

    Jaeken, J; Fryns, J P; Standaert, L; De Cock, P; Van den Berghe, H

    1980-01-01

    A 3 1/2 year-old severely microcephalic male is reported with a paracentric inversion in the long arm of a chromosome 14. This is the second report of nonfamilial paracentric inversion in man. PMID:6967281

  1. Molecular Studies in Horses with SRY-Positive XY Sex Reversal 

    E-print Network

    Fang, Erica

    2012-02-14

    Sex determination in mammals is regulated by the sex-determining region on the Y chromosome (SRY); the presence of SRY activates the male developmental pathway and suppresses the gene network necessary for female gonad development. Mutations in sex...

  2. Genetic and phenotypic influences on copulatory plug survival in mice.

    PubMed

    Mangels, R; Young, B; Keeble, S; Ardekani, R; Meslin, C; Ferreira, Z; Clark, N L; Good, J M; Dean, M D

    2015-12-01

    Across a diversity of animals, male seminal fluid coagulates upon ejaculation to form a hardened structure known as a copulatory plug. Previous studies suggest that copulatory plugs evolved as a mechanism for males to impede remating by females, but detailed investigations into the time course over which plugs survive in the female's reproductive tract are lacking. Here, we cross males from eight inbred strains to females from two inbred strains of house mice (Mus musculus domesticus). Plug survival was significantly affected by male genotype. Against intuition, plug survival time was negatively correlated with plug size: long-lasting plugs were small and relatively more susceptible to proteolysis. Plug size was associated with divergence in major protein composition of seminal vesicle fluid, suggesting that changes in gene expression may play an important role in plug dynamics. In contrast, we found no correlation to genetic variation in the protein-coding regions of five genes thought to be important in copulatory plug formation (Tgm4, Svs1, Svs2, Svs4 and Svs5). Our study demonstrates a complex relationship between copulatory plug characteristics and survival. We discuss several models to explain unexpected variation in plug phenotypes. PMID:26103947

  3. AB020. What is advance in molecular diagnosis for 46,XY and 46,XX testicular disorder of sex development?

    PubMed Central

    D?ng, V? Chí; Khánh, Nguy?n Ng?c; Th?o, Bùi Ph??ng; Ng?c, C?n Th? Bích; ??t, Nguy?n Phú; Dung, Le Anh; Kon, Masafumi; Igarashi, Maki; Fukami, Maki

    2015-01-01

    Background The disorders of sex development (DSD) are defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. It is estimated that genital anomalies occur in 1 in 4,500 births but 1:125 boys has hypospadias. There are three broad groups: 46,XX DSD, 46,XY DSD and sex chromosome aneuploidy DSD. Recently, exome sequencing followed by analysis with a list of all known human DSD-associated genes was used to investigate the underlying genetic etiology of 46,XY DSD patients who had not previously received a genetic diagnosis (E. C. Delot et al. ASHG meeting 2014). The authors identified a likely genetic diagnosis in more than a third of cases, including 22.5% with a pathogenic finding and an additional 12.5% with likely pathogenic findings. In addition, 15% had variants of uncertain clinical significance that may be reclassified as literature evolves. Objective To identify mutations in causative/candidate/susceptibility genes in patients with 46,XY DSD and 46,XX testicular DSD including AR, ATF3, BMP4, BMP7, BNC2, CTGF, CYP1A1, CYR61, DGKK, EGF, ESR1, ESR2, FGF8, FGFR2, GSTM1, GSTT1, HOXA4, HOXB6, HSD3B2, HSD17B3, MAMLD1, MID1, NR5A1 (alias SF1), SRD5A2, and WT1 genes. And to clarify the role of cryptic rearrangements in the development of 46,XY DSD in Vietnamese patients. Patients and methods A total of 61 cases with 46, XY were performed mutation analysis using PCR, next generation sequencing. Eight patients with 46, XX testicular DSD were analysed using whole genome and exome sequencing and 6 cases with 46, XY DSD associated with mental retardation and/or other congenital malformations were diagnosed molecular using CGH. Genomic DNA was extracted from lymphocytes of peripheral blood. Results and conclusions Two cases with primary adrenal insufficiency and 46,XY DSD from two unrelated families were identified novel homozygous mutation in HSD3B2 [c.481G>C (p.A161P)]. One case with simple hypospadias without adrenal insufficiency was identified mutation in HSD3B2 (p.A10T) gene. Six different causative mutations including 3 novel ones of AR gene were identified in 9 patients with androgen insensitivity syndrome [p.L701F (c.2103G>T); p.L705F (c.2113C>T); p. W752S (c. 2256 G>T); p.V747M (c.2239 G>A); p.V867M (c.2599 G>A) and p.Q28X (c.82C>T)]. Three causative mutations of SRD5A gene (coding for 5-alpha reductase) (p.S220L; p.R237G and p.R227Q) were identified in three patients from three unrelated families. Six cases with 46,XY DSD associated with mental retardation and/or other congenital malformation were identified cryptic rearrangements; 2 cases with 46,XX testicular DSD were identified duplication in SOX9. Advances in identification of molecular genetic causes of DSD will help confirmation of diagnosis, appropriate treatment and genetic counseling.

  4. Ultraprecision XY stage using a hybrid bolt-clamped Langevin-type ultrasonic linear motor for continuous motion

    SciTech Connect

    Lee, Dong-Jin; Lee, Sun-Kyu

    2015-01-15

    This paper presents a design and control system for an XY stage driven by an ultrasonic linear motor. In this study, a hybrid bolt-clamped Langevin-type ultrasonic linear motor was manufactured and then operated at the resonance frequency of the third longitudinal and the sixth lateral modes. These two modes were matched through the preload adjustment and precisely tuned by the frequency matching method based on the impedance matching method with consideration of the different moving weights. The XY stage was evaluated in terms of position and circular motion. To achieve both fine and stable motion, the controller consisted of a nominal characteristics trajectory following (NCTF) control for continuous motion, dead zone compensation, and a switching controller based on the different NCTFs for the macro- and micro-dynamics regimes. The experimental results showed that the developed stage enables positioning and continuous motion with nanometer-level accuracy.

  5. Chiral exponents of the square-lattice frustrated [ital XY] model: A Monte Carlo transfer-matrix calculation

    SciTech Connect

    Granato, E. ); Nightingale, M.P. )

    1993-09-01

    Thermal and chiral critical exponents of the fully frustrated [ital XY] model on a square lattice are obtained from a finite-size scaling analysis of the free energy of chiral domain walls. Data were obtained by extensive Monte Carlo transfer-matrix computations for infinite strips of widths up to 14 lattice spacings. Two transfer matrices were implemented, one for each of two principal lattice directions. The results of both are consistent, but the critical exponents differ significantly from the pure Ising values. This is in agreement with other recent Monte Carlo simulations. Our results also support the identification of the critical behavior of this model with that along the line of transitions of simultaneous ordering or becoming critical of Ising and planar rotor degrees of freedom in the [ital XY]-Ising model studied recently.

  6. Loschmidt echo of a two-level qubit coupled to nonuniform anisotropic XY chains in a transverse field

    SciTech Connect

    Zhong Ming; Tong Peiqing

    2011-11-15

    The Loschmidt echo (LE) of a central two-level qubit coupled to nonuniform anisotropic XY chains in a transverse field is studied. A general formula for LE is derived, which we use to discuss the influence of the criticality of the environment on LE. It is found that for the periodic XY chain the behaviors of LE in the vicinity of the critical points are similar to those of the uniform case. It is different for the disordered transverse Ising chains. For the aperiodic chains, if the surrounding systems are bounded chains, the behaviors of LE are similar to those of the uniform case, while if the surrounding systems are unbounded chains, they are similar to those of the disordered case.

  7. Mouse Sycp1 functions in synaptonemal complex assembly, meiotic recombination, and XY body formation

    PubMed Central

    de Vries, Femke A.T.; de Boer, Esther; van den Bosch, Mike; Baarends, Willy M.; Ooms, Marja; Yuan, Li; Liu, Jian-Guo; van Zeeland, Albert A.; Heyting, Christa; Pastink, Albert

    2005-01-01

    In meiotic prophase, synaptonemal complexes (SCs) closely appose homologous chromosomes (homologs) along their length. SCs are assembled from two axial elements (AEs), one along each homolog, which are connected by numerous transverse filaments (TFs). We disrupted the mouse gene encoding TF protein Sycp1 to analyze the role of TFs in meiotic chromosome behavior and recombination. Sycp1-/- mice are infertile, but otherwise healthy. Sycp1-/- spermatocytes form normal AEs, which align homologously, but do not synapse. Most Sycp1-/- spermatocytes arrest in pachynema, whereas a small proportion reaches diplonema, or, exceptionally, metaphase I. In leptotene Sycp1-/- spermatocytes, ?H2AX (indicative of DNA damage, including double-strand breaks) appears normal. In pachynema, Sycp1-/- spermatocytes display a number of discrete ?H2AX domains along each chromosome, whereas ?H2AX disappears from autosomes in wild-type spermatocytes. RAD51/DMC1, RPA, and MSH4 foci (which mark early and intermediate steps in pairing/recombination) appear in similar numbers as in wild type, but do not all disappear, and MLH1 and MLH3 foci (which mark late steps in crossing over) are not formed. Crossovers were rare in metaphase I of Sycp1-/- mice. We propose that SYCP1 has a coordinating role, and ensures formation of crossovers. Unexpectedly, Sycp1-/- spermatocytes did not form XY bodies. PMID:15937223

  8. The fine structure of the entanglement entropy in the classical XY model

    E-print Network

    Li-Ping Yang; Yuzhi Liu; Haiyuan Zou; Z. Y. Xie; Y. Meurice

    2015-07-13

    We compare two calculations of the particle density in the superfluid phase of the classical XY model with a chemical potential $\\mu$ in 1+1 dimensions.The first relies on exact blocking formulas from the Tensor Renormalization Group (TRG) formulation of the transfer matrix. The second is a worm algorithm. We show that the particle number distributions obtained with the two methods agree well. We use the TRG method to calculate the thermal entropy and the entanglement entropy. We describe the particle density, the two entropies and the topology of the world lines as we increase $\\mu$ to go across the superfluid phase between the first two Mott insulating phases. For a sufficiently large temporal size, this process reveals an interesting fine structure: the average particle number and the winding number of most of the world lines in the Euclidean time direction increase by one unit at a time. At each step, the thermal entropy develops a peak and the entanglement entropy increases until we reach half-filling and then decreases in a way that approximately mirror the ascent. This suggests an approximate fermionic picture.

  9. Entanglement of two qubits coupled to an XY spin chain: Role of energy current

    SciTech Connect

    Liu Benqiong; Shao Bin; Zou Jian

    2009-12-15

    We investigate the entanglement dynamics of a two-qubit system which interacts with a Heisenberg XY spin chain constrained to carry an energy current. We show an explicit connection between the decoherence factor and entanglement, and numerically and analytically study the dynamical process of entanglement in both weak- and strong-coupling cases for two initial states, the general pure state and the mixed Werner state. We provide results that the entanglement evolution depends not only on the energy current, the anisotropy parameter and the system-environment couplings but also on the size of degrees of freedom of environment. In particular, our results imply that entanglement will be strongly suppressed by the introduction of energy current on the environmental spin chain in the weak-coupling region while it is not sensitive to the energy current in the strong-coupling region. We also observe the sudden death of entanglement in the system and show how the energy current affects the phenomenon.

  10. Entanglement of two qubits coupled to an XY spin chain: Role of energy current

    NASA Astrophysics Data System (ADS)

    Liu, Ben-Qiong; Shao, Bin; Zou, Jian

    2009-12-01

    We investigate the entanglement dynamics of a two-qubit system which interacts with a Heisenberg XY spin chain constrained to carry an energy current. We show an explicit connection between the decoherence factor and entanglement, and numerically and analytically study the dynamical process of entanglement in both weak- and strong-coupling cases for two initial states, the general pure state and the mixed Werner state. We provide results that the entanglement evolution depends not only on the energy current, the anisotropy parameter and the system-environment couplings but also on the size of degrees of freedom of environment. In particular, our results imply that entanglement will be strongly suppressed by the introduction of energy current on the environmental spin chain in the weak-coupling region while it is not sensitive to the energy current in the strong-coupling region. We also observe the sudden death of entanglement in the system and show how the energy current affects the phenomenon.

  11. Benford's law gives better scaling exponents in phase transitions of quantum XY models

    NASA Astrophysics Data System (ADS)

    Rane, Ameya Deepak; Mishra, Utkarsh; Biswas, Anindya; SenDe, Aditi; Sen, Ujjwal

    2014-08-01

    Benford's law is an empirical law predicting the distribution of the first significant digits of numbers obtained from natural phenomena and mathematical tables. It has been found to be applicable for numbers coming from a plethora of sources, varying from seismographic, biological, financial, to astronomical. We apply this law to analyze the data obtained from physical many-body systems described by the one-dimensional anisotropic quantum XY models in a transverse magnetic field. We detect the zero-temperature quantum phase transition and find that our method gives better finite-size scaling exponents for the critical point than many other known scaling exponents using measurable quantities like magnetization, entanglement, and quantum discord. We extend our analysis to the same system but at finite temperature and find that it also detects the finite-temperature phase transition in the model. Moreover, we compare the Benford distribution analysis with the same obtained from the uniform and Poisson distributions. The analysis is furthermore important in that the high-precision detection of the cooperative physical phenomena is possible even from low-precision experimental data.

  12. Benford's law gives better scaling exponents in phase transitions of quantum XY models.

    PubMed

    Rane, Ameya Deepak; Mishra, Utkarsh; Biswas, Anindya; Sen De, Aditi; Sen, Ujjwal

    2014-08-01

    Benford's law is an empirical law predicting the distribution of the first significant digits of numbers obtained from natural phenomena and mathematical tables. It has been found to be applicable for numbers coming from a plethora of sources, varying from seismographic, biological, financial, to astronomical. We apply this law to analyze the data obtained from physical many-body systems described by the one-dimensional anisotropic quantum XY models in a transverse magnetic field. We detect the zero-temperature quantum phase transition and find that our method gives better finite-size scaling exponents for the critical point than many other known scaling exponents using measurable quantities like magnetization, entanglement, and quantum discord. We extend our analysis to the same system but at finite temperature and find that it also detects the finite-temperature phase transition in the model. Moreover, we compare the Benford distribution analysis with the same obtained from the uniform and Poisson distributions. The analysis is furthermore important in that the high-precision detection of the cooperative physical phenomena is possible even from low-precision experimental data. PMID:25215725

  13. Benford's law gives better scale exponents in phase transitions of quantum XY models

    E-print Network

    Ameya Deepak Rane; Utkarsh Mishra; Anindya Biswas; Aditi Sen De; Ujjwal Sen

    2014-05-12

    Benford's law is an empirical law predicting the distribution of the first significant digits of numbers obtained from natural phenomena and mathematical tables. It has been found to be applicable for numbers coming from a plethora of sources, varying from seismographic, biological, financial, to astronomical. We apply this law to analyze the data obtained from physical many-body systems described by the one-dimensional anisotropic quantum XY models in a transverse magnetic field. We detect the zero-temperature quantum phase transition and find that our method gives better finite-size scaling exponents for the critical point than many other known scaling exponents using measurable quantities like magnetization, entanglement, and quantum discord. We extend our analysis to the same system but at finite temperature and find that it also detects the finite temperature phase transition in the model. Moreover, we compare the Benford distribution analysis with the same obtained from the uniform and Poisson distributions. The analysis is furthermore important in that the high-precision detection of the cooperative physical phenomena is possible even from low-precision experimental data.

  14. Transverse spin correlation function of the one-dimensional spin- {1}/{2} XY model

    NASA Astrophysics Data System (ADS)

    Tonegawa, Takashi

    1981-12-01

    The transverse spin pair correlation function pxn=< SxmSxm+ n>=< SxmSxm+ n> is calculated exactly in the thermodynamic limit of the system described by the one-dimensional, isotropic, spin- {1}/{2}, XY Hamiltonian H=-2J limit?l=1N(S xlS xl+1+S ylS yl+1) . It is found that at absolute zero temperature ( T = 0), the correlation function ? xn for n ? 0 is given by ? x2p= {1}/{4}{2}/{?}2plimit?j=1p-1{4j 2}/{4j 2-1 }2p-2jif n=2p , ? x2p+1=± {1}/{4}{2}/{?}2p+1limit?j=1p{4j 2}/{4j 2-1 }2p+2jif n=2p+1 , where the plus sign applies when J is positive and the minus sign applies when J is negative. From these the asymptotic behavior as n ? ? of |? xn| at T = 0 is derived to be |? xn| ˜ {a}/{n} with a = 0.147088⋯. For finite temperatures, ? xn is calculated numerically. By using the results for ? xn, the transverse inverse correlation length and the wavenumber dependent transverse spin pair correlation function are also calculated exactly.

  15. The fine structure of the entanglement entropy in the classical XY model

    E-print Network

    Yang, Li-Ping; Zou, Haiyuan; Xie, Z Y; Meurice, Y

    2015-01-01

    We compare two calculations of the particle density in the superfluid phase of the classical XY model with a chemical potential $\\mu$ in 1+1 dimensions.The first relies on exact blocking formulas from the Tensor Renormalization Group (TRG) formulation of the transfer matrix. The second is a worm algorithm. We show that the particle number distributions obtained with the two methods agree well. We use the TRG method to calculate the thermal entropy and the entanglement entropy. We describe the particle density, the two entropies and the topology of the world lines as we increase $\\mu$ to go across the superfluid phase between the first two Mott insulating phases. For a sufficiently large temporal size, this process reveals an interesting fine structure: the average particle number and the winding number of most of the world lines in the Euclidean time direction increase by one unit at a time. At each step, the thermal entropy develops a peak and the entanglement entropy increases until we reach half-filling an...

  16. Quantum dynamics of double-qubits in a spin star lattice with an XY interaction

    E-print Network

    Jun Jing; Zhi-Guo Lü

    2007-10-09

    The dynamics of two coupled spins-1/2 interacting with a spin-bath via the quantum Heisenberg XY coupling is studied. The pair of central spins served as a quantum open subsystem are initially prepared in two types of states: the product states and the Bell states. The bath, which consists of $N$ (in the thermodynamic limit $N\\to\\infty$) mutually coupled spins-1/2, is in a thermal state at the beginning. By the Holstein-Primakoff transformation, the model can be treated effectively as two spin qubits embedded in a single mode cavity. The time-evolution of the purity, z-component summation and the concurrence of the central spins can be determined by a Laguerre polynomial scheme. It is found that (i) at a low temperature, the uncoupled subsystem in a product state can be entangled due to the interaction with bath, which is tested by the Peres-Horodecki separability; however, at a high temperature, the bath produces a stronger destroy effect on the purity and entanglement of the subsystem; (ii) when the coupling strength between the two central spins is large, they are protected strongly against the bath; (iii) when the interaction between the subsystem and the bath is strong, the collapse of the two spin qubits from their initial entangled state is fast.

  17. Contrasting patterns of X/Y polymorphism distinguish Carica papaya from other sex chromosome systems.

    PubMed

    Weingartner, Laura A; Moore, Richard C

    2012-12-01

    The sex chromosomes of the tropical crop papaya (Carica papaya) are evolutionarily young and consequently allow for the examination of evolutionary mechanisms that drive early sex chromosome divergence. We conducted a molecular population genetic analysis of four X/Y gene pairs from a collection of 45 wild papaya accessions. These population genetic analyses reveal striking differences in the patterns of polymorphism between the X and Y chromosomes that distinguish them from other sex chromosome systems. In most sex chromosome systems, the Y chromosome displays significantly reduced polymorphism levels, whereas the X chromosome maintains a level of polymorphism that is comparable to autosomal loci. However, the four papaya sex-linked loci that we examined display diversity patterns that are opposite this trend: the papaya X alleles exhibit significantly reduced polymorphism levels, whereas the papaya Y alleles maintain greater than expected levels of diversity. Our analyses suggest that selective sweeps in the regions of the X have contributed to this pattern while also revealing geographically restricted haplogroups on the Y. We discuss the possible role sexual selection and/or genomic conflict have played in shaping the contrasting patterns of polymorphism found for the papaya X and Y chromosomes. PMID:22855536

  18. XY sex chromosome complement, compared with XX, in the CNS confers greater neurodegeneration during experimental autoimmune encephalomyelitis

    PubMed Central

    Du, Sienmi; Itoh, Noriko; Askarinam, Sahar; Hill, Haley; Arnold, Arthur P.; Voskuhl, Rhonda R.

    2014-01-01

    Women are more susceptible to multiple sclerosis (MS) and have more robust immune responses than men. However, men with MS tend to demonstrate a more progressive disease course than women, suggesting a disconnect between the severity of an immune attack and the CNS response to a given immune attack. We have previously shown in an MS model, experimental autoimmune encephalomyelitis, that autoantigen-sensitized XX lymph node cells, compared with XY, are more encephalitogenic. These studies demonstrated an effect of sex chromosomes in the induction of immune responses, but did not address a potential role of sex chromosomes in the CNS response to immune-mediated injury. Here, we examined this possibility using XX versus XY bone marrow chimeras reconstituted with a common immune system of one sex chromosomal type. We found that experimental autoimmune encephalomyelitis mice with an XY sex chromosome complement in the CNS, compared with XX, demonstrated greater clinical disease severity with more neuropathology in the spinal cord, cerebellum, and cerebral cortex. A candidate gene on the X chromosome, toll-like receptor 7, was then examined. Toll-like receptor 7 expression in cortical neurons was higher in mice with XY compared with mice with XX CNS, consistent with the known neurodegenerative role for toll-like receptor 7 in neurons. These results suggest that sex chromosome effects on neurodegeneration in the CNS run counter to effects on immune responses, and may bear relevance to the clinical enigma of greater MS susceptibility in women but faster disability progression in men. This is a demonstration of a direct effect of sex chromosome complement on neurodegeneration in a neurological disease. PMID:24550311

  19. Fast 3D gradient shimming by only 2×2 pixels in XY plane for NMR-solution samples.

    PubMed

    Liu, Guangcao; Qu, Xiaobo; Cai, Shuhui; Zhang, Zhiyong; Chen, Zhiwei; Cai, Congbo; Chen, Zhong

    2014-11-01

    Shimming is an essential process for most NMR experiments, and time saving in this process is desired. Here we propose a fast 3D gradient shimming with a low resolution of only 2×2 pixels in the XY plane, and the number of pixels in the Z direction remains unchanged. The proposed pulse sequences employ the selective excitation and the convection compensation. Consequently, the fast 3D gradient shimming adapts to a wide range of samples on regular NMR spectrometers. PMID:25290504

  20. Canalization of body size matters for lifetime reproductive success of male predatory mites (Acari: Phytoseiidae)

    PubMed Central

    Walzer, Andreas; Schausberger, Peter

    2014-01-01

    The adaptive canalization hypothesis predicts that highly fitness-relevant traits are canalized via past selection, resulting in low phenotypic plasticity and high robustness to environmental stress. Accordingly, we hypothesized that the level of phenotypic plasticity of male body size of the predatory mites Phytoseiulus persimilis (low plasticity) and Neoseiulus californicus (high plasticity) reflects the effects of body size variation on fitness, especially male lifetime reproductive success (LRS). We first generated small and standard-sized males of P. persimilis and N. californicus by rearing them to adulthood under limited and ample prey supply, respectively. Then, adult small and standard-sized males were provided with surplus virgin females throughout life to assess their mating and reproductive traits. Small male body size did not affect male longevity or the number of fertilized females but reduced male LRS of P. persimilis but not N. californicus. Proximately, the lower LRS of small than standard-sized P. persimilis males correlated with shorter mating durations, probably decreasing the amount of transferred sperm. Ultimately, we suggest that male body size is more strongly canalized in P. persimilis than N. californicus because deviation from standard body size has larger detrimental fitness effects in P. persimilis than N. californicus. © 2014 The Authors. Biological Journal of the Linnean Society published by John Wiley & Sons Ltd on behalf of The Linnean Society of London, Biological Journal of the Linnean Society, 2014, 111, 889–899. PMID:25132689

  1. The trap of sex in social insects: from the female to the male perspective.

    PubMed

    Beani, Laura; Dessì-Fulgheri, Francesco; Cappa, Federico; Toth, Amy

    2014-10-01

    The phenotype of male Hymenoptera and the peculiar role of males has been neglected and greatly understudied, given the spectacular cooperative behavior of female social insects. In social insects there has been considerable progress in understanding the molecular mechanisms behind haplodiploid sex determination but, beyond that, very little is known concerning the neural, endocrine, and genetic correlates of sexual selection in males. An opportunity is being missed: the male phenotype in Hymenoptera is a natural experiment to compare the drives of natural versus sexual selection. In contrast to females, males do not work, they usually display far from the nest to gain mates, compete among rivals in nuptial flights or for a symbolic territory at leks, and engage in direct or ritualized conflicts. By comparing the available data on male paper wasps with studies on other social Hymenoptera, we summarize what we currently know about the physical, hormonal, neural and behavioral traits in a model system appropriate to examine current paradigms on sexual selection. Here we review male behavior in social Hymenoptera beyond sex stereotypes: the subtle role of "drones" in the colony, the lack of armaments and ornaments, the explosive mating crowds, the "endurance" race, the cognitive bases of the "choosy" male and his immune defense. Social insect males are not just simple-minded mating machines, they are shaped, constrained and perhaps trapped by sexual selection. PMID:25280909

  2. A survey of phenotypic features in juvenile polyposis.

    PubMed Central

    Desai, D C; Murday, V; Phillips, R K; Neale, K F; Milla, P; Hodgson, S V

    1998-01-01

    Solitary juvenile polyps are quite frequent in children, but juvenile polyposis (JP) is a rare autosomal dominant trait characterised by the occurrence of numerous polyps in the gastrointestinal tract. Extracolonic phenotypic abnormalities are well documented in patients with familial adenomatous polyposis and Peutz-Jeghers syndrome and can allow a clinical diagnosis to be made before the bowel pathology becomes available. Though described, characteristic extracolonic abnormalities have not been clearly defined in juvenile polyposis. We sought to determine whether there are consistent extracolonic phenotypic abnormalities in JP patients and how frequently this would allow diagnosis of one of the genetic syndromes known to be associated with juvenile polyposis. Twenty-two JP patients underwent clinical examination and data from one patient were obtained from case notes. Those consenting to further investigations had x rays of the skull, chest, and hands and an echocardiogram if clinically indicated. Significant extracolonic phenotypic abnormalities were present in 18 patients (14 male and four female), and included dermatological (13), skeletal (16), neurological (5), cardiopulmonary (4), gastrointestinal (3), genitourinary (4), and ocular (1) features. In five patients the diagnosis of a genetic syndrome was possible: two had Bannayan-Riley-Ruvalcaba syndrome, two had Gorlin syndrome, and one had hereditary haemorrhagic telangiectasia (HHT, also known as Osler-Rendu-Weber syndrome). Other patients had some features of these conditions and of Cowden and Simpson-Golabi-Behmel syndromes, but these were not sufficient to allow a definitive diagnosis. Images PMID:9643289

  3. Normal phenotype with paternal uniparental isodisomy for chromosome 21

    SciTech Connect

    Blouin, J.L.; Avramopoulos, D. ); Pangalos, C.; Antonarakis, S.E.

    1993-11-01

    Uniparental disomy (UPD) involving several different chromosomes has been described in several cases of human pathologies. In order to investigate whether UPD for chromosome 21 is associated with abnormal phenotypes, the authors analyzed DNA polymorphisms in DNA from a family with de novo Robertsonian translocation t(21q;21q). The proband was a healthy male with 45 dup(21q) who was ascertained through his trisomy 21 offspring. No phenotypic abnormalities were noted in the physical exam, and his past medical history was unremarkable. The authors obtained genotypes for the proband and his parents' leukocyte DNAs from 17 highly informative short sequence repeat polymorphisms that map in the pericentromeric region and along the entire length of 21q. The order of the markers has been previously determined through the linkage and physical maps of this chromosome. For the nine informative markers there was no maternal allele contribution to the genotype of the proband; in addition, there was always reduction to homozygosity of a paternal allele. These data indicated that there was paternal uniparental isodisomy for chromosome 21 (pUPiD21). The authors conclude that pUPiD21 is not associated with abnormal phenotypes and that there are probably no imprinted genes on chromosome 21. 36 refs., 3 figs.

  4. Phenotypic expression of schizotypal traits in an adolescent population.

    PubMed

    Fonseca-Pedrero, Eduardo; Lemos-Giráldez, Serafín; Paino, Mercedes; Sierra-Baigrie, Susana; Muñiz, José

    2012-08-01

    The main goal of the present study was to examine the influence of gender and age in the phenotypic expression of schizotypal traits in a community sample of adolescents. The sample was composed of a total of 1,618 participants, 776 (48%) males, with a mean age of 15.9 years (SD = 1.2). The ESQUIZO-Q: Oviedo Schizotypy Assessment Questionnaire was used for the assessment of schizotypal traits, a measure specifically developed for its use in adolescents. The results showed that gender and age were two sociodemographical variables that influenced the expression of schizotypal features. The males in the study obtained higher mean scores than the females in the Negative dimension (Physical and Social Anhedonia); however, the females obtained higher mean scores in Magical Thinking, Lack of Close Friends, and Social Disorganization. With regard to age, the younger adolescents had lower scores in Odd Thinking and Language, Lack of Close Friends, Excessive Social Anxiety, and Social Disorganization compared to the older adolescents. This differential pattern is similar to the one found in patients with schizophrenia and in nonclinical young adults, and these findings improve our understanding about the phenotypic expression of schizotypy during adolescence. PMID:22867505

  5. PlotXY: A High Quality Plotting System for the Herschel Interactive Processing Environment (HIPE) and the Astronomical Community

    NASA Astrophysics Data System (ADS)

    Panuzzo, P.; Li, J.; Caux, E.

    2012-09-01

    The Herschel Interactive Processing Environment (HIPE) was developed by the European Space Agency (ESA) in collaboration with NASA and the Herschel Instrument Control Centres, to provide the astronomical community a complete environment to process and analyze the data gathered by the Herschel Space Observatory. One of the most important components of HIPE is the plotting system (named PlotXY) that we present here. With PlotXY it is possible to produce easily high quality publication-ready 2D plots. It provides a long list of features, with fully configurable components, and interactive zooming. The entire code of HIPE is written in Java and is open source released under the GNU Lesser General Public License version 3. A new version of PlotXY is being developed to be independent from the HIPE code base; it is available to the software development community for the inclusion in other projects at the URL http://code.google.com/p/jplot2d/.

  6. Male Genital Lichen Sclerosus

    PubMed Central

    Bunker, Christopher Barry; Shim, Tang Ngee

    2015-01-01

    Male genital lichen sclerosus (MGLSc) is a chronic inflammatory skin disease responsible for male sexual dyspareunia and urological morbidity. An afeared complication is squamous cell carcinoma (SCC) of the penis. The precise etiopathogenesis of MGLSc remains controversial although genetic, autoimmune and infective (such as human papillomavirus (HPV) hepatitis C (HCV), Epstein-Barr virus (EBV) and Borrelia) factors have been implicated: Consideration of all the evidence suggests that chronic exposure of susceptible epithelium to urinary occlusion by the foreskin seems the most likely pathomechanism. The mainstay of treatment is topical ultrapotent corticosteroid therapy. Surgery is indicated for cases unresponsive to topical corticosteroid therapy, phimosis, meatal stenosis, urethral stricture, carcinoma in situ (CIS) and squamous cell carcinoma. PMID:25814697

  7. Newborn male circumcision.

    PubMed

    Sorokan, S Todd; Finlay, Jane C; Jefferies, Ann L

    2015-01-01

    The circumcision of newborn males in Canada has become a less frequent practice over the past few decades. This change has been significantly influenced by past recommendations from the Canadian Paediatric Society and the American Academy of Pediatrics, who both affirmed that the procedure was not medically indicated. Recent evidence suggesting the potential benefit of circumcision in preventing urinary tract infection and some sexually transmitted infections, including HIV, has prompted the Canadian Paediatric Society to review the current medical literature in this regard. While there may be a benefit for some boys in high-risk populations and circumstances where the procedure could be considered for disease reduction or treatment, the Canadian Paediatric Society does not recommend the routine circumcision of every newborn male. PMID:26435672

  8. Advances in male contraception.

    PubMed

    Page, Stephanie T; Amory, John K; Bremner, William J

    2008-06-01

    Despite significant advances in contraceptive options for women over the last 50 yr, world population continues to grow rapidly. Scientists and activists alike point to the devastating environmental impacts that population pressures have caused, including global warming from the developed world and hunger and disease in less developed areas. Moreover, almost half of all pregnancies are still unwanted or unplanned. Clearly, there is a need for expanded, reversible, contraceptive options. Multicultural surveys demonstrate the willingness of men to participate in contraception and their female partners to trust them to do so. Notwithstanding their paucity of options, male methods including vasectomy and condoms account for almost one third of contraceptive use in the United States and other countries. Recent international clinical research efforts have demonstrated high efficacy rates (90-95%) for hormonally based male contraceptives. Current barriers to expanded use include limited delivery methods and perceived regulatory obstacles, which stymie introduction to the marketplace. However, advances in oral and injectable androgen delivery are cause for optimism that these hurdles may be overcome. Nonhormonal methods, such as compounds that target sperm motility, are attractive in their theoretical promise of specificity for the reproductive tract. Gene and protein array technologies continue to identify potential targets for this approach. Such nonhormonal agents will likely reach clinical trials in the near future. Great strides have been made in understanding male reproductive physiology; the combined efforts of scientists, clinicians, industry and governmental funding agencies could make an effective, reversible, male contraceptive an option for family planning over the next decade. PMID:18436704

  9. Asynchrony of senescence among phenotypic traits in a wild mammal population

    PubMed Central

    Hayward, Adam D.; Moorad, Jacob; Regan, Charlotte E.; Berenos, Camillo; Pilkington, Jill G.; Pemberton, Josephine M.; Nussey, Daniel H.

    2015-01-01

    The degree to which changes in lifespan are coupled to changes in senescence in different physiological systems and phenotypic traits is a central question in biogerontology. It is underpinned by deeper biological questions about whether or not senescence is a synchronised process, or whether levels of synchrony depend on species or environmental context. Understanding how natural selection shapes patterns of synchrony in senescence across physiological systems and phenotypic traits demands the longitudinal study of many phenotypes under natural conditions. Here, we examine the patterns of age-related variation in late adulthood in a wild population of Soay sheep (Ovis aries) that have been the subject of individual-based monitoring for thirty years. We examined twenty different phenotypic traits in both males and females, encompassing vital rates (survival and fecundity), maternal reproductive performance (offspring birth weight, birth date and survival), male rutting behaviour, home range measures, parasite burdens, and body mass. We initially quantified age-related variation in each trait having controlled for annual variation in the environment, among-individual variation and selective disappearance effects. We then standardised our age-specific trait means and tested whether age trajectories could be meaningfully grouped according to sex or the type of trait. Whilst most traits showed age-related declines in later life, we found striking levels of asynchrony both within and between the sexes. Of particular note, female fecundity and reproductive performance declined with age, but male annual reproductive success did not. We also discovered that whilst home range size and quality decline with age in females, home range size increases with age in males. Our findings highlight the complexity of phenotypic ageing under natural conditions and, along with emerging data from other wild populations and laboratory models, suggest that the long-standing hypothesis within evolutionary biology that fitness-related traits should senesce in a synchronous manner is seriously flawed. PMID:26277618

  10. Adolescent male health

    PubMed Central

    Westwood, Michael; Pinzon, Jorge

    2008-01-01

    Although adolescent males have as many health issues and concerns as adolescent females, they are much less likely to be seen in a clinical setting. This is related to both individual factors and the health care system itself, which is not always encouraging and set up to provide comprehensive male health care. Working with adolescent boys involves gaining the knowledge and skills to address concerns such as puberty and sexuality, substance use, violence, risk-taking behaviours and mental health issues. The ability to engage the young male patient is critical, and the professional must be comfortable in initiating conversation about a wide array of topics with the teen boy, who may be reluctant to discuss his concerns. It is important to take every opportunity with adolescent boys to talk about issues beyond the presenting complain, and let them know about confidential care. The physician can educate teens about the importance of regular checkups, and that they are welcome to contact the physician if they are experiencing any concerns about their health or well-being. Parents of preadolescent and adolescent boys should be educated on the value of regular health maintenance visits for their sons beginning in their early teen years. PMID:19119350

  11. Melatonin and male reproduction.

    PubMed

    Li, Chunjin; Zhou, Xu

    2015-06-15

    Melatonin is a neurohormone secreted by the pineal gland whose concentrations in the body are regulated by both the dark-light and seasonal cycles. The reproductive function of seasonal breeding animals is clearly influenced by the circadian variation in melatonin levels. Moreover, a growing body of evidence indicates that melatonin has important effects in the reproduction of some non-seasonal breeding animals. In males, melatonin affects reproductive regulation in three main ways. First, it regulates the secretion of two key neurohormones, GnRH and LH. Second, it regulates testosterone synthesis and testicular maturation. Third, as a potent free radical scavenger that is both lipophilic and hydrophilic, it prevents testicular damage caused by environmental toxins or inflammation. This review summarizes the existing data on the possible biological roles of melatonin in male reproduction. Overall, the literature data indicate that melatonin affects the secretion of both gonadotropins and testosterone while also improving sperm quality. This implies that it has important effects on the regulation of testicular development and male reproduction. PMID:25916694

  12. NIH Mouse Metabolic Phenotyping Centers: the power of centralized phenotyping

    PubMed Central

    Kent Lloyd, K. C.; Cline, Gary W.; Wasserman, David H.

    2013-01-01

    The Mouse Metabolic Phenotyping Centers (MMPCs) were founded in 2001 by the National Institutes of Health (NIH) to advance biomedical research by providing the scientific community with standardized, high-quality phenotyping services for mouse models of diabetes, obesity, and their complications. The intent is to allow researchers to take optimum advantage of the many new mouse models produced in labs and in high-throughput public efforts. The six MMPCs are located at universities around the country and perform complex metabolic tests in intact mice and hormone and analyte assays in tissues on a fee-for-service basis. Testing is subsidized by the NIH in order to reduce the barriers for mouse researchers. Although data derived from these tests belong to the researcher submitting mice or tissues, these data are archived after publication in a public database run by the MMPC Coordinating and Bioinformatics Unit. It is hoped that data from experiments performed in many mouse models of metabolic diseases, using standard protocols, will be useful in understanding the nature of these complex disorders. The current areas of expertise include energy balance and body composition, insulin action and secretion, whole-body and tissue carbohydrate and lipid metabolism, cardiovascular and renal function, and metabolic pathway kinetics. In addition to providing services, the MMPC staff provides expertise and advice to researchers, and works to develop and refine test protocols to best meet the community’s needs in light of current scientific developments. Test technology is disseminated by publications and through annual courses. PMID:22940748

  13. Contrasting patterns of transposable element and satellite distribution on sex chromosomes (XY1Y2) in the dioecious plant Rumex acetosa.

    PubMed

    Steflova, Pavlina; Tokan, Viktor; Vogel, Ivan; Lexa, Matej; Macas, Jiri; Novak, Petr; Hobza, Roman; Vyskot, Boris; Kejnovsky, Eduard

    2013-01-01

    Rumex acetosa is a dioecious plant with the XY1Y2 sex chromosome system. Both Y chromosomes are heterochromatic and are thought to be degenerated. We performed low-pass 454 sequencing and similarity-based clustering of male and female genomic 454 reads to identify and characterize major groups of R. acetosa repetitive DNA. We found that Copia and Gypsy retrotransposons dominated, followed by DNA transposons and nonlong terminal repeat retrotransposons. CRM and Tat/Ogre retrotransposons dominated the Gypsy superfamily, whereas Maximus/Sireviruses were most abundant among Copia retrotransposons. Only one Gypsy subfamily had accumulated on Y1 and Y2 chromosomes, whereas many retrotransposons were ubiquitous on autosomes and the X chromosome, but absent on Y1 and Y2 chromosomes, and others were depleted from the X chromosome. One group of CRM Gypsy was specifically localized to centromeres. We also found that majority of previously described satellites (RAYSI, RAYSII, RAYSIII, and RAE180) are accumulated on the Y chromosomes where we identified Y chromosome-specific variant of RAE180. We discovered two novel satellites-RA160 satellite dominating on the X chromosome and RA690 localized mostly on the Y1 chromosome. The expression pattern obtained from Illumina RNA sequencing showed that the expression of transposable elements is similar in leaves of both sexes and that satellites are also expressed. Contrasting patterns of transposable elements (TEs) and satellite localization on sex chromosomes in R. acetosa, where not only accumulation but also depletion of repetitive DNA was observed, suggest that a plethora of evolutionary processes can shape sex chromosomes. PMID:23542206

  14. Global Phenotypic Screening for Antimalarials

    PubMed Central

    Guiguemde, W. Armand; Shelat, Anang A.; Garcia-Bustos, Jose F.; Diagana, Thierry; Gamo, Francisco-Javier; Guy, R. Kiplin

    2012-01-01

    Malaria, a devastating infectious disease caused by Plasmodium spp., leads to roughly 655,000 deaths per year, mostly of African children. To compound the problem, drug resistance has emerged to all classical antimalarials and may be emerging for artemisinin-based combination therapies. To address the need for new antimalarials with novel mechanisms, several groups carried out phenotypic screening campaigns to identify compounds inhibiting growth of the blood stages of Plasmodium falciparum. In this review, we describe the characterization of these compounds, explore currently ongoing strategies to develop lead molecules, and endorse the concept of a “malaria box” of publicly accessible active compounds. PMID:22284359

  15. Phenotypic differences in individuals with autism spectrum disorder born preterm and at term gestation.

    PubMed

    Bowers, Katherine; Wink, Logan K; Pottenger, Amy; McDougle, Christopher J; Erickson, Craig

    2015-08-01

    The objective of the study was to characterize the phenotype of males and females with autism spectrum disorder born preterm versus those born at term. Descriptive statistical analyses identified differences between male and female autism spectrum disorder subjects born preterm compared to term for several phenotypic characteristics and comorbidities. Of the 115 (13.0% of 883) born preterm, a greater percentage of males had sleep apnea (13.8% vs. 2.5%, p?phenotypic differences were observed, especially among males. The results may have implications for understanding the underpinnings of a subset of individuals with autism spectrum disorder and contribute to the development of focused treatments for autism spectrum disorder among children born preterm. PMID:25192860

  16. Mating advantage for rare males in wild guppy populations.

    PubMed

    Hughes, Kimberly A; Houde, Anne E; Price, Anna C; Rodd, F Helen

    2013-11-01

    To understand the processes that maintain genetic diversity is a long-standing challenge in evolutionary biology, with implications for predicting disease resistance, response to environmental change, and population persistence. Simple population genetic models are not sufficient to explain the high levels of genetic diversity sometimes observed in ecologically important traits. In guppies (Poecilia reticulata), male colour pattern is both diverse and heritable, and is arguably one of the most extreme examples of morphological polymorphism known. Negative frequency-dependent selection (NFDS), a form of selection in which genotypes are favoured when they are rare, can potentially maintain such extensive polymorphism, but few experimental studies have confirmed its operation in nature. Here we use highly replicated experimental manipulations of natural populations to show that males with rare colour patterns have higher reproductive fitness, demonstrating NFDS mediated by sexual selection. Rare males acquired more mates and sired more offspring compared to common males and, as previously reported, had higher rates of survival. Orange colour, implicated in other studies of sexual selection in guppies, did predict male reproductive success, but only in one of three populations. These data support the hypothesis that NFDS maintains diversity in the colour patterns of male guppies through two selective agents, mates and predators. Similar field-based manipulations of genotype frequencies could provide a powerful approach to reveal the underlying ecological and behavioural mechanisms that maintain genetic and phenotypic diversity. PMID:24172904

  17. Interaction between temperature and male pheromone in sexual isolation in Drosophila melanogaster

    PubMed Central

    Bontonou, G; Denis, B; Wicker-Thomas, C

    2013-01-01

    In Drosophila, female hydrocarbons are known to be involved in premating isolation between different species and pheromonal races. The role of male-specific hydrocarbon polymorphism is not as well documented. The dominant cuticular hydrocarbon (CHC) in male D. melanogaster is usually 7-tricosene (7-T), with the exception of African populations, in which 7-pentacosene (7-P) is dominant. Here, we took advantage of a population from the Comoro Islands (Com), in which males fell on a continuum of low to high levels of 7-T, to perform temperature selection and selection on CHCs’ profiles. We conducted several experiments on the selected Com males to study the plasticity of their CHCs in response to temperature shift, their role in resistance to desiccation and in sexual selection. We then compared the results obtained for selected lines to those from three common laboratory strains with different and homogenous hydrocarbon profiles: CS, Cot and Tai. Temperature selection modified the CHC profiles of the Com males in few generations of selection. We showed that the 7-P/7-T ratio depends on temperature with generally more 7-P at higher temperatures and observed a relationship between chain length and resistance to desiccation in both temperature- and phenotypically selected Com lines. There was partial sexual isolation between the flies with clear-cut phenotypes within the phenotypically selected lines and the laboratory strains. These results indicate that the dominant male pheromones are under environmental selection and may have played a role in reproductive isolation. PMID:23944628

  18. Design, analysis and testing of a parallel-kinematic high-bandwidth XY nanopositioning stage.

    PubMed

    Li, Chun-Xia; Gu, Guo-Ying; Yang, Mei-Ju; Zhu, Li-Min

    2013-12-01

    This paper presents the design, analysis, and testing of a parallel-kinematic high-bandwidth XY nanopositioning stage driven by piezoelectric stack actuators. The stage is designed with two kinematic chains. In each kinematic chain, the end-effector of the stage is connected to the base by two symmetrically distributed flexure modules, respectively. Each flexure module comprises a fixed-fixed beam and a parallelogram flexure serving as two orthogonal prismatic joints. With the purpose to achieve high resonance frequencies of the stage, a novel center-thickened beam which has large stiffness is proposed to act as the fixed-fixed beam. The center-thickened beam also contributes to reducing cross-coupling and restricting parasitic motion. To decouple the motion in two axes totally, a symmetric configuration is adopted for the parallelogram flexures. Based on the analytical models established in static and dynamic analysis, the dimensions of the stage are optimized in order to maximize the first resonance frequency. Then finite element analysis is utilized to validate the design and a prototype of the stage is fabricated for performance tests. According to the results of static and dynamic tests, the resonance frequencies of the developed stage are over 13.6 kHz and the workspace is 11.2 ?m × 11.6 ?m with the cross-coupling between two axes less than 0.52%. It is clearly demonstrated that the developed stage has high resonance frequencies, a relatively large travel range, and nearly decoupled performance between two axes. For high-speed tracking performance tests, an inversion-based feedforward controller is implemented for the stage to compensate for the positioning errors caused by mechanical vibration. The experimental results show that good tracking performance at high speed is achieved, which validates the effectiveness of the developed stage. PMID:24387472

  19. Design, analysis and testing of a parallel-kinematic high-bandwidth XY nanopositioning stage

    SciTech Connect

    Li, Chun-Xia; Gu, Guo-Ying; Yang, Mei-Ju; Zhu, Li-Min

    2013-12-15

    This paper presents the design, analysis, and testing of a parallel-kinematic high-bandwidth XY nanopositioning stage driven by piezoelectric stack actuators. The stage is designed with two kinematic chains. In each kinematic chain, the end-effector of the stage is connected to the base by two symmetrically distributed flexure modules, respectively. Each flexure module comprises a fixed-fixed beam and a parallelogram flexure serving as two orthogonal prismatic joints. With the purpose to achieve high resonance frequencies of the stage, a novel center-thickened beam which has large stiffness is proposed to act as the fixed-fixed beam. The center-thickened beam also contributes to reducing cross-coupling and restricting parasitic motion. To decouple the motion in two axes totally, a symmetric configuration is adopted for the parallelogram flexures. Based on the analytical models established in static and dynamic analysis, the dimensions of the stage are optimized in order to maximize the first resonance frequency. Then finite element analysis is utilized to validate the design and a prototype of the stage is fabricated for performance tests. According to the results of static and dynamic tests, the resonance frequencies of the developed stage are over 13.6 kHz and the workspace is 11.2??m × 11.6??m with the cross-coupling between two axes less than 0.52%. It is clearly demonstrated that the developed stage has high resonance frequencies, a relatively large travel range, and nearly decoupled performance between two axes. For high-speed tracking performance tests, an inversion-based feedforward controller is implemented for the stage to compensate for the positioning errors caused by mechanical vibration. The experimental results show that good tracking performance at high speed is achieved, which validates the effectiveness of the developed stage.

  20. Quantum fluctuations in the two-dimensional XY model: Variational approach

    SciTech Connect

    Ariosa, D.; Beck, H. )

    1992-01-01

    Due to the small self-capacitance of individual junctions, two-dimensional arrays of ultrasmall Josephson junctions are sensitive to charging effects. Identifying the charging energy term with the kinetic part of a quantum Hamiltonian for a two-dimensional {ital XY} spin system, we study the effects of quantum fluctuations on the equilibrium thermodynamics of such a system. The study is based on a self-consistent evaluation of the free energy of the system, with both effective couplings {ital K} and angular thermal averages {l angle}{theta}{r angle} as variational parameters. In the weakly fluctuating regime (high values of {ital K}), we use the self-consistent harmonic approximation for an array of coupled quantum harmonic oscillators. In the strong fluctuating regime (small values of {ital K}), the coupling term is treated as a perturbation of the free-planar-rotator system. The calculation is then performed to second order in the coupling constant {ital K}. When plotted versus {ital K}, this free energy shows a double-well structure that evolves with the temperature as well as the capacitance, leading to a first-order phase transition at low temperatures. Sensitivity to charging effects is found to be considerably enhanced in fully frustrated systems (i.e., when the array is placed in a transverse magnetic field with half a flux quantum per plaquette). Furthermore, in the fully frustrated case we found an unusual coherent phase at very low temperatures. Our results are in good qualitative agreement with those obtained by Jacobs {ital et} {ital al}. with quantum Monte Carlo simulations.

  1. A Tandem Duplicate of Anti-Müllerian Hormone with a Missense SNP on the Y Chromosome Is Essential for Male Sex Determination in Nile Tilapia, Oreochromis niloticus

    PubMed Central

    Li, Minghui; Sun, Yunlv; Zhao, Jiue; Shi, Hongjuan; Zeng, Sheng; Ye, Kai; Jiang, Dongneng; Zhou, Linyan; Sun, Lina; Tao, Wenjing; Nagahama, Yoshitaka; Kocher, Thomas D.; Wang, Deshou

    2015-01-01

    Variation in the TGF-? signaling pathway is emerging as an important mechanism by which gonadal sex determination is controlled in teleosts. Here we show that amhy, a Y-specific duplicate of the anti-Müllerian hormone (amh) gene, induces male sex determination in Nile tilapia. amhy is a tandem duplicate located immediately downstream of amh?-y on the Y chromosome. The coding sequence of amhy was identical to the X-linked amh (amh) except a missense SNP (C/T) which changes an amino acid (Ser/Leu92) in the N-terminal region. amhy lacks 5608 bp of promoter sequence that is found in the X-linked amh homolog. The amh?-y contains several insertions and deletions in the promoter region, and even a 5 bp insertion in exonVI that results in a premature stop codon and thus a truncated protein product lacking the TGF-? binding domain. Both amhy and amh?-y expression is restricted to XY gonads from 5 days after hatching (dah) onwards. CRISPR/Cas9 knockout of amhy in XY fish resulted in male to female sex reversal, while mutation of amh?-y alone could not. In contrast, overexpression of Amhy in XX fish, using a fosmid transgene that carries the amhy/amh?-y haplotype or a vector containing amhy ORF under the control of CMV promoter, resulted in female to male sex reversal, while overexpression of Amh?-y alone in XX fish could not. Knockout of the anti-Müllerian hormone receptor type II (amhrII) in XY fish also resulted in 100% complete male to female sex reversal. Taken together, these results strongly suggest that the duplicated amhy with a missense SNP is the candidate sex determining gene and amhy/amhrII signal is essential for male sex determination in Nile tilapia. These findings highlight the conserved roles of TGF-? signaling pathway in fish sex determination. PMID:26588702

  2. A Tandem Duplicate of Anti-Müllerian Hormone with a Missense SNP on the Y Chromosome Is Essential for Male Sex Determination in Nile Tilapia, Oreochromis niloticus.

    PubMed

    Li, Minghui; Sun, Yunlv; Zhao, Jiue; Shi, Hongjuan; Zeng, Sheng; Ye, Kai; Jiang, Dongneng; Zhou, Linyan; Sun, Lina; Tao, Wenjing; Nagahama, Yoshitaka; Kocher, Thomas D; Wang, Deshou

    2015-11-01

    Variation in the TGF-? signaling pathway is emerging as an important mechanism by which gonadal sex determination is controlled in teleosts. Here we show that amhy, a Y-specific duplicate of the anti-Müllerian hormone (amh) gene, induces male sex determination in Nile tilapia. amhy is a tandem duplicate located immediately downstream of amh?-y on the Y chromosome. The coding sequence of amhy was identical to the X-linked amh (amh) except a missense SNP (C/T) which changes an amino acid (Ser/Leu92) in the N-terminal region. amhy lacks 5608 bp of promoter sequence that is found in the X-linked amh homolog. The amh?-y contains several insertions and deletions in the promoter region, and even a 5 bp insertion in exonVI that results in a premature stop codon and thus a truncated protein product lacking the TGF-? binding domain. Both amhy and amh?-y expression is restricted to XY gonads from 5 days after hatching (dah) onwards. CRISPR/Cas9 knockout of amhy in XY fish resulted in male to female sex reversal, while mutation of amh?-y alone could not. In contrast, overexpression of Amhy in XX fish, using a fosmid transgene that carries the amhy/amh?-y haplotype or a vector containing amhy ORF under the control of CMV promoter, resulted in female to male sex reversal, while overexpression of Amh?-y alone in XX fish could not. Knockout of the anti-Müllerian hormone receptor type II (amhrII) in XY fish also resulted in 100% complete male to female sex reversal. Taken together, these results strongly suggest that the duplicated amhy with a missense SNP is the candidate sex determining gene and amhy/amhrII signal is essential for male sex determination in Nile tilapia. These findings highlight the conserved roles of TGF-? signaling pathway in fish sex determination. PMID:26588702

  3. How Effective Is Male Contraception?

    MedlinePLUS

    ... men, methods of contraception include male condoms and sterilization (vasectomy). Male condoms. This condom is a thin sheath ... are disposable after a single use. 1 , 2 Vasectomy ( va-SEK-tuh-mee ) is a surgical procedure ...

  4. Phenotyping bananas for drought resistance

    PubMed Central

    Ravi, Iyyakkutty; Uma, Subbaraya; Vaganan, Muthu Mayil; Mustaffa, Mohamed M.

    2012-01-01

    Drought has emerged as one of the major constraints in banana production. Its effects are pronounced substantially in the tropics and sub-tropics of the world due to climate change. Bananas are quite sensitive to drought; however, genotypes with “B” genome are more tolerant to abiotic stresses than those solely based on “A” genome. In particular, bananas with “ABB” genomes are more tolerant to drought and other abiotic stresses than other genotypes. A good phenotyping plan is a prerequisite for any improvement program for targeted traits. In the present article, known drought tolerant traits of other crop plants are validated in bananas with different genomic backgrounds and presented. Since, banana is recalcitrant to breeding, strategies for making hybrids between different genomic backgrounds are also discussed. Stomatal conductance, cell membrane stability (CMS), leaf emergence rate, rate of leaf senescence, RWC, and bunch yield under soil moisture deficit stress are some of the traits associated with drought tolerance. Among these stress bunch yield under drought should be given top priority for phenotyping. In the light of recently released Musa genome draft sequence, the molecular breeders may have interest in developing molecular markers for drought resistance. PMID:23443573

  5. Proinflammatory phenotype of perivascular adipocytes

    PubMed Central

    Omar, Abdullah; Chatterjee, Tapan K.; Tang, Yaoliang; Hui, David Y.; Weintraub, Neal L.

    2014-01-01

    Perivascular adipose tissue (PVAT) directly abuts the lamina adventitia of conduit arteries and actively communicates with the vessel wall to regulate vascular function and inflammation. Mounting evidence suggests that the biological activities of PVAT are governed by perivascular (PV) adipocytes, a unique class of adipocyte with distinct molecular and phenotypic characteristics. Perivascular adipocytes surrounding human coronary arteries (pericoronary PV adipocytes) exhibit a reduced state of adipogenic differentiation and a heightened pro-inflammatory state, secreting up to 50-fold higher levels of the pro-inflammatory cytokine MCP-1 as compared with adipocytes from other regional depots. Thus, PV adipocytes may contribute to upregulated inflammation of PVAT observed in atherosclerotic human blood vessels. On the other hand, PV adipocytes also secrete anti-inflammatory molecules such as adiponectin, and elimination of PVAT in rodent models has been shown to augment vascular disease, suggesting that some amount of PVAT is required to maintain vascular homeostasis. Evidence in animal models and in humans suggests that inflammation of PVAT may be modulated by environmental factors, such as high fat diet and tobacco smoke, which are relevant to atherosclerosis. These findings suggest that the inflammatory phenotype of PVAT is diverse depending on species, anatomic location, and environmental factors, and that these differences are fundamentally important in determining a pathogenic versus protective role of PVAT in vascular disease. Further research into the mechanisms that regulate the inflammatory balance of PV adipocytes may yield new insight into, and treatment strategies for, cardiovascular disease. PMID:24925977

  6. Influence of the White Locus on the Courtship Behavior of Drosophila Males

    PubMed Central

    Krstic, Dimitrije; Boll, Werner; Noll, Markus

    2013-01-01

    Since its discovery by Morgan, the Drosophila white gene has become one of the most intensely studied genes and has been widely used as a genetic marker. Earlier reports that over- and misexpression of White protein in Drosophila males leads to male-male courtship implicated white in courtship control. While previous studies suggested that it is the mislocalization of White protein within cells that causes the courtship phenotype, we demonstrate here that also the lack of extra-retinal White can cause very similar behavioral changes. Moreover, we provide evidence that the lack of White function increases the sexual arousal of males in general, of which the enhanced male-male courtship might be an indirect effect. We further show that white mutant flies are not only optomotor blind but also dazzled by the over-flow of light in daylight. Implications of these findings for the proper interpretation of behavioral studies with white mutant flies are discussed. PMID:24205022

  7. Influence of the White locus on the courtship behavior of Drosophila males.

    PubMed

    Krstic, Dimitrije; Boll, Werner; Noll, Markus

    2013-01-01

    Since its discovery by Morgan, the Drosophila white gene has become one of the most intensely studied genes and has been widely used as a genetic marker. Earlier reports that over- and misexpression of White protein in Drosophila males leads to male-male courtship implicated white in courtship control. While previous studies suggested that it is the mislocalization of White protein within cells that causes the courtship phenotype, we demonstrate here that also the lack of extra-retinal White can cause very similar behavioral changes. Moreover, we provide evidence that the lack of White function increases the sexual arousal of males in general, of which the enhanced male-male courtship might be an indirect effect. We further show that white mutant flies are not only optomotor blind but also dazzled by the over-flow of light in daylight. Implications of these findings for the proper interpretation of behavioral studies with white mutant flies are discussed. PMID:24205022

  8. Cytoplasmic male sterility in Brassicaceae crops

    PubMed Central

    Yamagishi, Hiroshi; Bhat, Shripad R.

    2014-01-01

    Brassicaceae crops display strong hybrid vigor, and have long been subject to F1 hybrid breeding. Because the most reliable system of F1 seed production is based on cytoplasmic male sterility (CMS), various types of CMS have been developed and adopted in practice to breed Brassicaceae oil seed and vegetable crops. CMS is a maternally inherited trait encoded in the mitochondrial genome, and the male sterile phenotype arises as a result of interaction of a mitochondrial CMS gene and a nuclear fertility restoring (Rf) gene. Therefore, CMS has been intensively investigated for gaining basic insights into molecular aspects of nuclear-mitochondrial genome interactions and for practical applications in plant breeding. Several CMS genes have been identified by molecular genetic studies, including Ogura CMS from Japanese radish, which is the most extensively studied and most widely used. In this review, we discuss Ogura CMS, and other CMS systems, and the causal mitochondrial genes for CMS. Studies on nuclear Rf genes and the cytoplasmic effects of alien cytoplasm on general crop performance are also reviewed. Finally, some of the unresolved questions about CMS are highlighted. PMID:24987289

  9. QTL analysis of fertility restoration in cytoplasmic male sterile pepper.

    PubMed

    Wang, L H; Zhang, B X; Lefebvre, V; Huang, S W; Daubèze, A M; Palloix, A

    2004-09-01

    Fertility restoration of Peterson's cytoplasmic male-sterility in pepper (Capsicum annuum L.) is quantitative and environment-dependent. QTL analysis of fertility restoration was performed based on the test-cross progeny of 77013A (a strict cytoplasmic-genetic male sterile line) and a doubled haploid population of 114 lines obtained from an F1 hybrid between Yolo wonder (a sterility maintainer line) and Perennial (a fertility-restorer line). The fertility of the test-crossed lines was assessed under greenhouse and open field conditions using three criteria related to pollen or seed production. One major QTL for fertility restoration was mapped to chromosome P6. It was significant in all the environments and for all the traits, accounting for 20-69% of the phenotypic variation, depending on the trait. Four additional minor QTLs were also detected on chromosomes P5, P2, and linkage groups PY3 and PY1, accounting for 7-17% of the phenotypic variation. Most of the alleles increasing fertility originated from the restorer parent, except for two alleles at minor QTLs. Phenotypic analysis and genetic dissection indicated that breeding pepper for complete sterility of female lines and high hybrid fertility requires complex combinations of alleles from both parents and a strict control of the environment. PMID:15173931

  10. Integrating phenotype ontologies across multiple species

    PubMed Central

    2010-01-01

    Phenotype ontologies are typically constructed to serve the needs of a particular community, such as annotation of genotype-phenotype associations in mouse or human. Here we demonstrate how these ontologies can be improved through assignment of logical definitions using a core ontology of phenotypic qualities and multiple additional ontologies from the Open Biological Ontologies library. We also show how these logical definitions can be used for data integration when combined with a unified multi-species anatomy ontology. PMID:20064205

  11. The phenotypic variance gradient – a novel concept

    PubMed Central

    Pertoldi, Cino; Bundgaard, Jørgen; Loeschcke, Volker; Barker, James Stuart Flinton

    2014-01-01

    Evolutionary ecologists commonly use reaction norms, which show the range of phenotypes produced by a set of genotypes exposed to different environments, to quantify the degree of phenotypic variance and the magnitude of plasticity of morphometric and life-history traits. Significant differences among the values of the slopes of the reaction norms are interpreted as significant differences in phenotypic plasticity, whereas significant differences among phenotypic variances (variance or coefficient of variation) are interpreted as differences in the degree of developmental instability or canalization. We highlight some potential problems with this approach to quantifying phenotypic variance and suggest a novel and more informative way to plot reaction norms: namely “a plot of log (variance) on the y-axis versus log (mean) on the x-axis, with a reference line added”. This approach gives an immediate impression of how the degree of phenotypic variance varies across an environmental gradient, taking into account the consequences of the scaling effect of the variance with the mean. The evolutionary implications of the variation in the degree of phenotypic variance, which we call a “phenotypic variance gradient”, are discussed together with its potential interactions with variation in the degree of phenotypic plasticity and canalization. PMID:25540685

  12. The genetic architecture of psychophysiological phenotypes

    PubMed Central

    Munafò, Marcus R; Flint, Jonathan

    2014-01-01

    It is now clear that almost all complex traits have a highly polygenic component; that is, their genetic basis consists of relatively frequent risk alleles at a very large number of loci, each making a small contribution to variation, or disease susceptibility. This general conclusion appears to hold for intermediate phenotypes. Therefore, we should not expect these phenotypes to be associated with substantially larger effect sizes than conventional phenotypes. Instead, their usefulness is likely to lie in understanding the mechanism underpinning associations identified via genome-wide association studies of conventional phenotypes. PMID:25387716

  13. Phenotypic changes among hybrid rat mast cells.

    PubMed

    Zheng, Y; McNeill, K; Rector, E S; Froese, A

    1995-11-01

    Rat peritoneal mast cells and 6-thioguanine-resistant rat basophilic leukemia cells, representative of connective tissue-type (CTMC) and mucosal (MMC) mast cells, respectively, were fused using polyethylene glycol. Four out of 14 primary hybrid mast cell lines contained more than 50% of CTMC as demonstrated by histochemical staining. Two cell lines, one predominantly of the CTMC and the other of the MMC phenotype, were selected for further study. Among these, the phenotype was also confirmed by analysis for rat mast cell protease I and by mediator release triggered by compound 48/80 and ionophore A23187. The CTMC phenotype disappeared after culturing cells for 2 weeks. The change in phenotype did not significantly alter the mediator release due to calcium ionophore A23187. Repeated cloning of cells bearing the CTMC phenotype did not yield a cloned line of cells expressing the CTMC phenotype only, although it prolonged the persistence of this phenotype. During the period of CTMC phenotype loss, a drop in cellular DNA content occurred, suggesting that chromosome instability may, at least partially, have been responsible for the phenotypic changes. PMID:7580287

  14. Evolution of molecular phenotypes under stabilizing selection

    NASA Astrophysics Data System (ADS)

    Nourmohammad, Armita; Schiffels, Stephan; Lässig, Michael

    2013-01-01

    Molecular phenotypes are important links between genomic information and organismic functions, fitness, and evolution. Complex phenotypes, which are also called quantitative traits, often depend on multiple genomic loci. Their evolution builds on genome evolution in a complicated way, which involves selection, genetic drift, mutations and recombination. Here we develop a coarse-grained evolutionary statistics for phenotypes, which decouples from details of the underlying genotypes. We derive approximate evolution equations for the distribution of phenotype values within and across populations. This dynamics covers evolutionary processes at high and low recombination rates, that is, it applies to sexual and asexual populations. In a fitness landscape with a single optimal phenotype value, the phenotypic diversity within populations and the divergence between populations reach evolutionary equilibria, which describe stabilizing selection. We compute the equilibrium distributions of both quantities analytically and we show that the ratio of mean divergence and diversity depends on the strength of selection in a universal way: it is largely independent of the phenotype’s genomic encoding and of the recombination rate. This establishes a new method for the inference of selection on molecular phenotypes beyond the genome level. We discuss the implications of our findings for the predictability of evolutionary processes.

  15. Gradient evolution of body colouration in surface- and cave-dwelling Poecilia mexicana and the role of phenotype-assortative female mate choice.

    PubMed

    Bierbach, David; Penshorn, Marina; Hamfler, Sybille; Herbert, Denise B; Appel, Jessica; Meyer, Philipp; Slattery, Patrick; Charaf, Sarah; Wolf, Raoul; Völker, Johannes; Berger, Elisabeth A M; Dröge, Janis; Wolf, Konstantin; Riesch, Rüdiger; Arias-Rodriguez, Lenin; Indy, Jeanne R; Plath, Martin

    2013-01-01

    Ecological speciation assumes reproductive isolation to be the product of ecologically based divergent selection. Beside natural selection, sexual selection via phenotype-assortative mating is thought to promote reproductive isolation. Using the neotropical fish Poecilia mexicana from a system that has been described to undergo incipient ecological speciation in adjacent, but ecologically divergent habitats characterized by the presence or absence of toxic H2S and darkness in cave habitats, we demonstrate a gradual change in male body colouration along the gradient of light/darkness, including a reduction of ornaments that are under both inter- and intrasexual selection in surface populations. In dichotomous choice tests using video-animated stimuli, we found surface females to prefer males from their own population over the cave phenotype. However, female cave fish, observed on site via infrared techniques, preferred to associate with surface males rather than size-matched cave males, likely reflecting the female preference for better-nourished (in this case: surface) males. Hence, divergent selection on body colouration indeed translates into phenotype-assortative mating in the surface ecotype, by selecting against potential migrant males. Female cave fish, by contrast, do not have a preference for the resident male phenotype, identifying natural selection against migrants imposed by the cave environment as the major driver of the observed reproductive isolation. PMID:24175282

  16. Gradient Evolution of Body Colouration in Surface- and Cave-Dwelling Poecilia mexicana and the Role of Phenotype-Assortative Female Mate Choice

    PubMed Central

    Penshorn, Marina; Hamfler, Sybille; Herbert, Denise B.; Appel, Jessica; Meyer, Philipp; Slattery, Patrick; Charaf, Sarah; Wolf, Raoul; Völker, Johannes; Berger, Elisabeth A. M.; Dröge, Janis; Riesch, Rüdiger; Arias-Rodriguez, Lenin; Indy, Jeanne R.; Plath, Martin

    2013-01-01

    Ecological speciation assumes reproductive isolation to be the product of ecologically based divergent selection. Beside natural selection, sexual selection via phenotype-assortative mating is thought to promote reproductive isolation. Using the neotropical fish Poecilia mexicana from a system that has been described to undergo incipient ecological speciation in adjacent, but ecologically divergent habitats characterized by the presence or absence of toxic H2S and darkness in cave habitats, we demonstrate a gradual change in male body colouration along the gradient of light/darkness, including a reduction of ornaments that are under both inter- and intrasexual selection in surface populations. In dichotomous choice tests using video-animated stimuli, we found surface females to prefer males from their own population over the cave phenotype. However, female cave fish, observed on site via infrared techniques, preferred to associate with surface males rather than size-matched cave males, likely reflecting the female preference for better-nourished (in this case: surface) males. Hence, divergent selection on body colouration indeed translates into phenotype-assortative mating in the surface ecotype, by selecting against potential migrant males. Female cave fish, by contrast, do not have a preference for the resident male phenotype, identifying natural selection against migrants imposed by the cave environment as the major driver of the observed reproductive isolation. PMID:24175282

  17. Lisping and male homosexuality.

    PubMed

    Van Borsel, John; Van de Putte, Anneleen

    2014-08-01

    The present study examined the popular stereotype that gay men lisp by evaluating to what extent listeners associated dental or frontal articulation/lisping with gayness. Fifteen heterosexual males and 15 heterosexual females listened to 275 samples of read speech and judged the sexual orientation of the speakers. A total of 175 of the samples were of homosexual men, 74 (42.3 %) of which had been identified with lisping in a previous study; 100 were of heterosexual men, 18 (18 %) of which had been identified with lisping previously. Based on the ratings of the listeners of the present study, lisping speakers were significantly more often judged to be homosexual. This was true for the group as a whole as well as for the subgroup of homosexual and heterosexual men separately. Furthermore, there was no significant gender difference with respect to associating lisping with gayness. Male and female judges associated lisping with gayness to a similar degree. Additional analysis showed that overall 56.2 % of the time the judges were correct in their judgment of the speakers' sexual orientation. The results of this study confirmed previous preliminary findings that suggested that frontal or dental articulation/lisping is a feature that listeners associate with gayness. The reason for this association remains to be clarified. PMID:24578106

  18. Tetracycline-exposed Drosophila melanogaster males produce fewer offspring but a relative excess of sons.

    PubMed

    O'Shea, Kaitlyn L; Singh, Nadia D

    2015-08-01

    A large diversity of species possesses endosymbionts; these endosymbionts can exhibit mutualistic, parasitic, and commensal relationships with their hosts. Previous work has consistently revealed that depleting endosymbiont titer with antibiotic treatment can significantly alter host fitness and function, particularly with respect to reproductive phenotypes. Although these findings are often interpreted as resulting from the breakdown of highly coevolved symbioses, it is possible that antibiotic treatment itself rather than endosymbiont removal contributes to the observed perturbations in reproductive phenotypes. Here, we investigate the effect of tetracycline treatment on sex ratio and male reproductive fitness using Drosophila melanogaster as a model system. Our results indicate that tetracycline-treated males produce a relative excess of sons. We also find that tetracycline treatment reduces the number of progeny produced by treated males but not treated females. These findings are independent of the effects of tetracycline on Wolbachia titer and implicate the antibiotic itself as mediating these changes. It is yet unclear whether the sex ratio shift and reduction in male reproductive fitness are direct or indirect consequences of tetracycline exposure, and more work is needed to determine the molecular mechanisms by which these disturbances in reproductive phenotypes arise. Our data highlight the importance of considering the potentially confounding effects of antibiotic treatment when investigating the effects of endosymbiont depletion on host phenotypes. PMID:26357541

  19. Conspicuous female ornamentation and tests of male mate preference in threespine sticklebacks (Gasterosteus aculeatus).

    PubMed

    Wright, Daniel Shane; Pierotti, Michele E R; Rundle, Howard D; McKinnon, Jeffrey S

    2015-01-01

    Sexual selection drives the evolution of exaggerated male ornaments in many animal species. Female ornamentation is now acknowledged also to be common but is generally less well understood. One example is the recently documented red female throat coloration in some threespine stickleback (Gasterosteus aculeatus) populations. Although female sticklebacks often exhibit a preference for red male throat coloration, the possibility of sexual selection on female coloration has been little studied. Using sequential and simultaneous mate choice trials, we examined male mate preferences for female throat color, as well as pelvic spine color and standard length, using wild-captured threespine sticklebacks from the Little Campbell River, British Columbia. In a multivariate analysis, we found no evidence for a population-level mate preference in males, suggesting the absence of directional sexual selection on these traits arising from male mate choice. Significant variation was detected among males in their preference functions, but this appeared to arise from differences in their mean responsiveness across mating trials and not from variation in the strength (i.e., slope) of their preference, suggesting the absence of individual-level preferences as well. When presented with conspecific intruder males, male response decreased as intruder red throat coloration increased, suggesting that males can discriminate color and other aspects of phenotype in our experiment and that males may use these traits in intrasexual interactions. The results presented here are the first to explicitly address male preference for female throat color in threespine sticklebacks. PMID:25806520

  20. Conspicuous Female Ornamentation and Tests of Male Mate Preference in Threespine Sticklebacks (Gasterosteus aculeatus)

    PubMed Central

    Wright, Daniel Shane; Pierotti, Michele E. R.; Rundle, Howard D.; McKinnon, Jeffrey S.

    2015-01-01

    Sexual selection drives the evolution of exaggerated male ornaments in many animal species. Female ornamentation is now acknowledged also to be common but is generally less well understood. One example is the recently documented red female throat coloration in some threespine stickleback (Gasterosteus aculeatus) populations. Although female sticklebacks often exhibit a preference for red male throat coloration, the possibility of sexual selection on female coloration has been little studied. Using sequential and simultaneous mate choice trials, we examined male mate preferences for female throat color, as well as pelvic spine color and standard length, using wild-captured threespine sticklebacks from the Little Campbell River, British Columbia. In a multivariate analysis, we found no evidence for a population-level mate preference in males, suggesting the absence of directional sexual selection on these traits arising from male mate choice. Significant variation was detected among males in their preference functions, but this appeared to arise from differences in their mean responsiveness across mating trials and not from variation in the strength (i.e., slope) of their preference, suggesting the absence of individual-level preferences as well. When presented with conspecific intruder males, male response decreased as intruder red throat coloration increased, suggesting that males can discriminate color and other aspects of phenotype in our experiment and that males may use these traits in intrasexual interactions. The results presented here are the first to explicitly address male preference for female throat color in threespine sticklebacks. PMID:25806520

  1. Analysis of phenotypic and genetic parameters for growth-related traits in the half smooth tongue sole, Cynoglossus semilaevis

    NASA Astrophysics Data System (ADS)

    Liu, Feng; Li, Yangzhen; Du, Min; Shao, Changwei; Chen, Songlin

    2015-08-01

    Phenotypic and genetic parameters for growth-related traits in the half-smooth tongue sole, Cynoglossus semilaevis, were estimated in 22 full-sib families produced by normal and neo-male breeding stocks. As phenotypic males with female genotypes, neo-males are harmful in C. semilaevis aquaculture because they reduce overall production. The present study evaluated the difference in the growth-related traits: total length (TL), body weight (BW) and square root of body weight (SQ_BW) at the age of 570 days between normal and neo-male offspring (neo-males used as male parents). The difference in the proportion of females between normal and neo-male offspring was also assessed. Based on the linear mixed model, restricted maximum likelihood (REML) and best linear unbiased prediction (BLUP) were used to estimate various (co)variance components and estimated breeding values (EBVs) of growth-related traits. As a result, all the mean values of the three studied traits were significantly larger in normal offspring than in neo-male offspring. Additionally, the female proportion was significantly larger in normal offspring than in neo-male offspring. Heritability was 0.128±0.066 2 for TL, 0.128±0.065 5 for BW and 0.132±0.062 9 for SQ_BW, all of which were low level heritabilities. The correlation coefficients of EBVs and phenotypic values of the target traits were 0.516 for TL, 0.524 for BW and 0.506 for SQ_BW, all of which were highly significant (P<0.01). Genetic correlations among TL, BW and SQ_BW were positive high (0.921-0.969) and higher than those of phenotype (0.711-0.748), both of which had low standard errors (0.063-0.123 for genotype, and 0.010-0.018 for phenotype). Compared with normal offspring, neo-male offspring have lower breeding values for each studied trait through EBVs comparison. Therefore, neo-male offspring should not be used as broodstock in a C. semilaevis breeding programs.

  2. Does egg colouration reflect male condition in birds?

    NASA Astrophysics Data System (ADS)

    Martínez-Padilla, Jesús; Dixon, Heather; Vergara, Pablo; Pérez-Rodríguez, Lorenzo; Fargallo, Juan A.

    2010-05-01

    How colouration provides information about individuals in birds has been a central issue in recent decades. Although much information has been derived, little is known about the adaptive significance of egg colouration in birds. A recent idea suggests that biliverdin- and porphyrin-pigmented eggs may act as a post-mating sexual signal for males to assess female quality. In birds, it is common for males to influence prelaying female condition by courtship feeding. Using Eurasian kestrels, a species that lays protoporphyrin-pigmented eggs, we descriptively assessed the influence of male feeding on egg pigmentation by considering female phenotype, condition, breeding parameters and male body condition. We found that older females and females with greyer tails (an index of individual quality) produce highly pigmented eggs. However, male body condition was the only variable that explained egg colouration when considered together with the female-related variables. Therefore, females that mated with males in better condition laid highly pigmented eggs. With the same species, we also explored the cost of producing protoporphyrin-pigmented eggs using a food-supply experiment before the laying period. Food supplementation did not increase egg pigmentation, but hatching success and egg mass were positively related to egg colouration only in food supplied pairs. We suggest that egg colouration might be costly to produce and probably suggests egg quality. However, this cost cannot be explained by female quality, but by male condition instead. In general, our results do not support the theory that egg colouration is a post-mating sexual signal in species where males determine female condition at the time of laying.

  3. Zellweger syndrome and associated phenotypes.

    PubMed Central

    FitzPatrick, D R

    1996-01-01

    Until recently, the peroxisome was considered a "reactor chamber" for H2O2 producing oxidases, and it is now recognised as a versatile organelle performing complex catabolic and biosynthetic roles in the cell. Zellweger syndrome (ZS), the paradigm of human peroxisomal disorders, is characterised by neonatal hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, senorineural deafness, retinal dysfunction, and facial dysmorphism. It is now clear that ZS is at the severe end of a phenotypic spectrum of Zellweger-like syndromes which may present for diagnosis later in childhood and even in adult life. It is important that clinical geneticists are aware of these milder clinical variants as the availability of sensitive and specific biochemical assays of peroxisomal function (for example, serum VLCFA ratios, platelet DHAP-AT activity) makes their diagnosis relatively straightforward. Images PMID:8933342

  4. Prehypertension: Defining the Transitional Phenotype.

    PubMed

    Fernandez, Camilo; Sander, Gary E; Giles, Thomas D

    2016-01-01

    More than a simple "transitional stage" defined by covenanted cut points of systolic pressure from 120 to 139 mm of mercury (mm Hg) or a diastolic pressure from 80 to 89 mm Hg, prehypertension should be referred to as a categorical term that defines a specific phenotype in the progression from the "absence of disease" to clinically overt disease. While the currently utilized definition of prehypertension stresses the use of blood pressure cut points to establish the diagnosis, it is of relevance to direct our attention to the structural and functional hemodynamic alterations that occur in response to the two cardinal abnormalities in the development of prehypertension and hypertension: autonomic dysfunction and arterial remodeling. Our current review addresses these aspects of the pathophysiology or prehypertension on its progression to hypertension and suggests a new approach to its classification. PMID:26694821

  5. Evolving phenotypic networks in silico.

    PubMed

    François, Paul

    2014-11-01

    Evolved gene networks are constrained by natural selection. Their structures and functions are consequently far from being random, as exemplified by the multiple instances of parallel/convergent evolution. One can thus ask if features of actual gene networks can be recovered from evolutionary first principles. I review a method for in silico evolution of small models of gene networks aiming at performing predefined biological functions. I summarize the current implementation of the algorithm, insisting on the construction of a proper "fitness" function. I illustrate the approach on three examples: biochemical adaptation, ligand discrimination and vertebrate segmentation (somitogenesis). While the structure of the evolved networks is variable, dynamics of our evolved networks are usually constrained and present many similar features to actual gene networks, including properties that were not explicitly selected for. In silico evolution can thus be used to predict biological behaviours without a detailed knowledge of the mapping between genotype and phenotype. PMID:24956562

  6. Phenotypic robustness can increase phenotypic variability after nongenetic perturbations in gene regulatory circuits

    E-print Network

    Wagner, Andreas

    ). The phenotype-first perspective is based on the obser- vation that organisms often have highly plastic pheno on nongenetic influences. A nongenetic perturbation can thus trigger a plastic phenotypic response in some individuals of a population. If the resulting novel phenotype provides a benefit to its carrier

  7. Genetics and Evolution of Hybrid Male Sterility in House Mice

    PubMed Central

    White, Michael A.; Stubbings, Maria; Dumont, Beth L.; Payseur, Bret A.

    2012-01-01

    Comparative genetic mapping provides insights into the evolution of the reproductive barriers that separate closely related species. This approach has been used to document the accumulation of reproductive incompatibilities over time, but has only been applied to a few taxa. House mice offer a powerful system to reconstruct the evolution of reproductive isolation between multiple subspecies pairs. However, studies of the primary reproductive barrier in house mice—hybrid male sterility—have been restricted to a single subspecies pair: Mus musculus musculus and Mus musculus domesticus. To provide a more complete characterization of reproductive isolation in house mice, we conducted an F2 intercross between wild-derived inbred strains from Mus musculus castaneus and M. m. domesticus. We identified autosomal and X-linked QTL associated with a range of hybrid male sterility phenotypes, including testis weight, sperm density, and sperm morphology. The pseudoautosomal region (PAR) was strongly associated with hybrid sterility phenotypes when heterozygous. We compared QTL found in this cross with QTL identified in a previous F2 intercross between M. m. musculus and M. m. domesticus and found three shared autosomal QTL. Most QTL were not shared, demonstrating that the genetic basis of hybrid male sterility largely differs between these closely related subspecies pairs. These results lay the groundwork for identifying genes responsible for the early stages of speciation in house mice. PMID:22554891

  8. Persistent replicative stress alters Polycomb phenotypes and tissue homeostasis in Drosophila melanogaster

    PubMed Central

    Landais, Severine; D'Alterio, Cecilia; Jones, D. Leanne

    2014-01-01

    Polycomb group (PcG) proteins establish and maintain genetic programs that regulate cell fate decisions. Drosophila multi sex combs (mxc) was categorized as a PcG gene based on a classical Polycomb phenotype and genetic interactions; however, a mechanistic connection between Polycomb and Mxc has not been elucidated. Hypomorphic alleles of mxc are characterized by male and female sterility and ectopic sex combs. Mxc is an important regulator of histone synthesis, and we find that increased levels of the core histone H3 in mxc mutants result in replicative stress and a persistent DNA damage response (DDR). Germline loss, ectopic sex combs and the DDR are suppressed by reducing H3 in mxc mutants. Conversely, mxc phenotypes are enhanced when the DDR is abrogated. Importantly, replicative stress induced by hydroxyurea treatment recapitulated mxc germline phenotypes. These data reveal how persistent replicative stress affects gene expression, tissue homeostasis, and maintenance of cellular identity in vivo. PMID:24746823

  9. Alternative phenotypes and sexual selection: can dichotomous handicaps honestly signal quality?

    PubMed Central

    Unrug, Juliusz; Tomkins, Joseph L.; Radwan, Jacek

    2004-01-01

    Considerable theoretical and empirical effort has been focused on the potential of continuously variable sexual traits to honestly indicate male quality, but relatively little effort has been devoted to a similar evolutionary role for dimorphic traits. Male dimorphisms, associated with conditionally expressed alternative reproductive tactics, represent extreme phenotypic plasticity. Evidence suggests that considerable heritable variation exists in the 'liability' underlying many threshold traits; if this liability is correlated with the genetic quality of males, dimorphic traits have the potential to be reliable indicators. We investigated the genetic architecture of phenotypically plastic morph expression in the context of condition-dependent signalling theory. Male morph in the mite Sancassania berlesei is condition dependent: 'fighters' armed with thickened and sharp third pairs of legs emerge from heavier nymphs than unarmoured 'scramblers'. We selected on male morph in three replicate 'fighter' and 'scrambler' lines and recorded a significant response to selection over seven generations; this was due to a shift in the threshold reaction norm but the lines showed no correlated response in condition. This is inconsistent with models predicting a substantial genetic correlation between condition and sexual trait expression. We discuss why dimorphic sexual traits may show more condition-independent genetic variance than continuous sexual traits. PMID:15306339

  10. Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.

    PubMed

    Corujeira, Susana; Águeda, Sofia; Monteiro, Georgina; Canelhas, Aurea; Sampaio, Mafalda; Rocha, Ruben; Leão, Miguel

    2013-11-01

    The ichthyosis follicular with atrichia and photophobia syndrome (IFAP) is a rare X-linked multiple congenital malformation syndrome. Some male patients have additional features including brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with Hirschsprung disease and cleft palate or cryptorchidism (BRESHECK syndrome). We report a 5 months-old male patient with the p.R429H mutation in MBTPS2 protein, which has been reported to be associated with the most severe phenotype of patients with IFAP/BRESHECK syndrome. This patient presented with a severe IFAP/BRESHECK phenotype including ichthyosis follicular, atrichia, photophobia, brain anomalies, global developmental delay, Hirschsprung disease and kidney hypoplasia. Additional features not previously reported in IFAP syndrome, include severe hypogammaglobulinemia and congenital rectourethral fistula. PMID:24090718

  11. GENOME-WIDE LINKAGE ANALYSIS TO IDENTIFY CHROMOSOMAL REGIONS AFFECTING PHENOTYPIC TRAITS IN THE CHICKEN. IV. SKELETAL INTEGRITY

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Two unique chicken F2 populations generated from a broiler breeder male line and two genetically distinct inbred (greater than 99%) chicken lines (Leghom and Fayoumi), were used for whole genome QTL analysis. Twelve phenotypic skeletal integrity traits (6 absolute and 6 relative traits) were measure...

  12. 46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis

    SciTech Connect

    James, C.; Robson, L.; Jackson, J.

    1995-05-08

    Chromosome analysis was performed on a 3-year-old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. Fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the Y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism. 17 refs., 3 figs., 2 tabs.

  13. [Obesity and male fertility].

    PubMed

    Martini, Ana C; Molina, Rosa I; Ruiz, Rubén D; Fiol de Cuneo, Marta

    2012-01-01

    Obesity and male infertility have increased in the last decades; therefore, a possible association between these pathologies has been explored. Studies inform that obesity may affect fertility through different mechanisms, which alltogether could exert erectile dysfunction and/or sperm quality impairment. These include: 1) hypothalamic-pituitary-testicular (HPG) axis malfunction: obese hormonal profile is characterized by reduction of testosterone, gonadotrophins, SHBG and/or inhibin B concentrations (marker of Sertoli cells function) and hyperestrogenemy (consequence of aromatase overactivity ascribed to adipose tissue increase); 2) increased release of adipose-derived hormones: leptin increase could be responsible for some of the alterations on the HPG axis and could also exert direct deleterious effects on Leydig cells physiology, spermatogenesis and sperm function; 3) proinflammatory adipokines augmentation, higher scrotal temperature (due to fat accumulation in areas surrounding testes) and endocrine disruptors accumulation in adiposites, all of these responsible for the increase in testes oxidative stress and 4) sleep apnea, frequent in obese patients, suppresses the nocturnal testosterone rise needed for normal spermatogenesis. Finally, although controversial, all the above mentioned factors could comprise gametes quality; i.e. decrease sperm density and motility and increase DNA fragmentation, probably disturbing spermatogenesis and/or epididymal function. In summary, although obesity may impair male fertility by some/all of the described mechanisms, the fact is that only a small proportion of obese men are infertile, probably those genetically predisposed or morbidly obese. Nevertheless, it is likely that because the incidence of obesity is growing, the number of men with reduced fertility will increase as well. PMID:23286540

  14. Long-term phenotypic evolution of bacteria.

    PubMed

    Plata, Germán; Henry, Christopher S; Vitkup, Dennis

    2015-01-15

    For many decades comparative analyses of protein sequences and structures have been used to investigate fundamental principles of molecular evolution. In contrast, relatively little is known about the long-term evolution of species' phenotypic and genetic properties. This represents an important gap in our understanding of evolution, as exactly these proprieties play key roles in natural selection and adaptation to diverse environments. Here we perform a comparative analysis of bacterial growth and gene deletion phenotypes using hundreds of genome-scale metabolic models. Overall, bacterial phenotypic evolution can be described by a two-stage process with a rapid initial phenotypic diversification followed by a slow long-term exponential divergence. The observed average divergence trend, with approximately similar fractions of phenotypic properties changing per unit time, continues for billions of years. We experimentally confirm the predicted divergence trend using the phenotypic profiles of 40 diverse bacterial species across more than 60 growth conditions. Our analysis suggests that, at long evolutionary distances, gene essentiality is significantly more conserved than the ability to utilize different nutrients, while synthetic lethality is significantly less conserved. We also find that although a rapid phenotypic evolution is sometimes observed within the same species, a transition from high to low phenotypic similarity occurs primarily at the genus level. PMID:25363780

  15. Distribution of phenotypes among Bacillus thuringiensis strains

    Technology Transfer Automated Retrieval System (TEKTRAN)

    An extensive collection of Bacillus thuringiensis isolates from around the world were phenotypically profiled using standard biochemical tests. Six phenotypic traits occurred in 20-86% of the isolates and were useful in distinguishing isolates: production of urease (U; 20.5% of isolates), hydrolysis...

  16. Emerging semantics to link phenotype and environment.

    PubMed

    Thessen, Anne E; Bunker, Daniel E; Buttigieg, Pier Luigi; Cooper, Laurel D; Dahdul, Wasila M; Domisch, Sami; Franz, Nico M; Jaiswal, Pankaj; Lawrence-Dill, Carolyn J; Midford, Peter E; Mungall, Christopher J; Ramírez, Martín J; Specht, Chelsea D; Vogt, Lars; Vos, Rutger Aldo; Walls, Ramona L; White, Jeffrey W; Zhang, Guanyang; Deans, Andrew R; Huala, Eva; Lewis, Suzanna E; Mabee, Paula M

    2015-01-01

    Understanding the interplay between environmental conditions and phenotypes is a fundamental goal of biology. Unfortunately, data that include observations on phenotype and environment are highly heterogeneous and thus difficult to find and integrate. One approach that is likely to improve the status quo involves the use of ontologies to standardize and link data about phenotypes and environments. Specifying and linking data through ontologies will allow researchers to increase the scope and flexibility of large-scale analyses aided by modern computing methods. Investments in this area would advance diverse fields such as ecology, phylogenetics, and conservation biology. While several biological ontologies are well-developed, using them to link phenotypes and environments is rare because of gaps in ontological coverage and limits to interoperability among ontologies and disciplines. In this manuscript, we present (1) use cases from diverse disciplines to illustrate questions that could be answered more efficiently using a robust linkage between phenotypes and environments, (2) two proof-of-concept analyses that show the value of linking phenotypes to environments in fishes and amphibians, and (3) two proposed example data models for linking phenotypes and environments using the extensible observation ontology (OBOE) and the Biological Collections Ontology (BCO); these provide a starting point for the development of a data model linking phenotypes and environments. PMID:26713234

  17. Daddy issues: paternal effects on phenotype.

    PubMed

    Rando, Oliver J

    2012-11-01

    The once popular and then heretical idea that ancestral environment can affect the phenotype of future generations is coming back into vogue due to advances in the field of epigenetic inheritance. How paternal environmental conditions influence the phenotype of progeny is now a tractable question, and researchers are exploring potential mechanisms underlying such effects. PMID:23141533

  18. Emerging semantics to link phenotype and environment

    PubMed Central

    Bunker, Daniel E.; Buttigieg, Pier Luigi; Cooper, Laurel D.; Dahdul, Wasila M.; Domisch, Sami; Franz, Nico M.; Jaiswal, Pankaj; Lawrence-Dill, Carolyn J.; Midford, Peter E.; Mungall, Christopher J.; Ramírez, Martín J.; Specht, Chelsea D.; Vogt, Lars; Vos, Rutger Aldo; Walls, Ramona L.; White, Jeffrey W.; Zhang, Guanyang; Deans, Andrew R.; Huala, Eva; Lewis, Suzanna E.; Mabee, Paula M.

    2015-01-01

    Understanding the interplay between environmental conditions and phenotypes is a fundamental goal of biology. Unfortunately, data that include observations on phenotype and environment are highly heterogeneous and thus difficult to find and integrate. One approach that is likely to improve the status quo involves the use of ontologies to standardize and link data about phenotypes and environments. Specifying and linking data through ontologies will allow researchers to increase the scope and flexibility of large-scale analyses aided by modern computing methods. Investments in this area would advance diverse fields such as ecology, phylogenetics, and conservation biology. While several biological ontologies are well-developed, using them to link phenotypes and environments is rare because of gaps in ontological coverage and limits to interoperability among ontologies and disciplines. In this manuscript, we present (1) use cases from diverse disciplines to illustrate questions that could be answered more efficiently using a robust linkage between phenotypes and environments, (2) two proof-of-concept analyses that show the value of linking phenotypes to environments in fishes and amphibians, and (3) two proposed example data models for linking phenotypes and environments using the extensible observation ontology (OBOE) and the Biological Collections Ontology (BCO); these provide a starting point for the development of a data model linking phenotypes and environments. PMID:26713234

  19. Preference for Male Traits Differ in Two Female Morphs of the Tree Lizard, Urosaurus ornatus

    PubMed Central

    Lattanzio, Matthew S.; Metro, Kevin J.; Miles, Donald B.

    2014-01-01

    Non-random female mating preferences may contribute to the maintenance of phenotypic variation in color polymorphic species. However, the effect of female preference depends on the types of male traits used as signals by receptive females. If preference signals derive from discrete male traits (i.e., morph-specific), female preferences may rapidly fix to a morph. However, female preference signals may also include condition-dependent male traits. In this scenario, female preference may differ depending on the social context (i.e., male morph availability). Male tree lizards (Urosaurus ornatus) exhibit a dewlap color polymorphism that covaries with mating behavior. Blue morph males are aggressive and defend territories, yellow males are less aggressive and defend smaller territories, and orange males are typically nomadic. Female U. ornatus are also polymorphic in dewlap color, but the covariation between dewlap color and female behavior is unknown. We performed an experiment to determine how female mate choice depends on the visual and chemical signals produced by males. We also tested whether female morphs differ in their preferences for these signals. Female preferences involved both male dewlap color and size of the ventral color patch. However, the female morphs responded to these signals differently and depended on the choice between the types of male morphs. Our experiment revealed that females may be capable of distinguishing among the male morphs using chemical signals alone. Yellow females exhibit preferences based on both chemical and visual signals, which may be a strategy to avoid ultra-dominant males. In contrast, orange females may prefer dominant males. We conclude that female U. ornatus morphs differ in mating behavior. Our findings also provide evidence for a chemical polymorphism among male lizards in femoral pore secretions. PMID:25033282

  20. Sex mosaics in a male dimorphic ant Cardiocondyla kagutsuchi

    NASA Astrophysics Data System (ADS)

    Yoshizawa, Juri; Mimori, Kohei; Yamauchi, Katsusuke; Tsuchida, Koji

    2009-01-01

    Gynandromorphy, or the development of organisms with a combination of male and female morphological features, is common in Hymenoptera. The underlying mechanism is likely associated with the sex-determination system, and studying this phenomenon should lead to a deeper understanding of both embryonic development and sex determination. The reproductive capabilities of gynandromorphs (hereafter, sex mosaics) remain unclear. We studied gynandromorphy in the Malaysian ant Cardiocondyla kagutsuchi, which has sex mosaics of queens (gynandromorphs; mosaic of queens and winged male) and workers (ergatandromorphs; mosaic of worker and wingless ergatoid male). These sex mosaics were classified into seven morphological categories. Most individuals had more male than female body areas. Behavioral observations revealed that sex mosaics behave more in accordance with the “sex” of their brain than that of the reproductive organs (gaster). Relative DNA quantities showed that both female and male regions contained haploid and diploid nuclei, irrespective of their phenotypic appearance, indicating that external appearance did not reflect internal tissues. Nearly one third of the adults were sex mosaics and they were not infected with Wolbachia. Our results suggest that the production of sex mosaics in this species does not pose a substantial cost to colonies and that the underlying causes are therefore not strongly selected against.

  1. Distinct antennal lobe phenotypes in the leaf-cutting ant (Atta vollenweideri).

    PubMed

    Kuebler, L S; Kelber, C; Kleineidam, C J

    2010-02-01

    Leaf-cutting ants (Atta vollenweideri) express a remarkable size polymorphism across the two sexual castes (queens and males) but in particular within the worker caste. Worker size is related to behavior (alloethism), separating workers into behavioral subcastes. The neuronal mechanisms underlying differences in behavior within the worker caste are still unknown. In this study, we first compared selected neuropils, in particular, the antennal lobes (AL) in males, queens, and workers. The males' ALs contain three extremely large, sex-specific glomeruli (macroglomeruli; MGs) and in total comprise fewer glomeruli (242) than the ALs of queens (about 346 glomeruli). In contrast to males, the queen ALs contain only one large glomerulus at a lateral position. The largest number of glomeruli was found in workers (396-442). In a previous paper, we described an MG in the workers' AL, and, in the second part of this study, we show that within workers two distinct, size-related AL phenotypes exist: the MG phenotype (containing a macroglomerulus) and the RG phenotype, with all glomeruli of regular size. This neuroanatomical polyphenism is established during pupal development and separates the worker caste into two neuroanatomical subcastes. Third, we investigate the functional significance of the MG in workers. By using calcium imaging to monitor activity of AL projection neurons, we show that the releaser component of the trail pheromone is represented in the same region as the MG. We propose that phenotypic trait variation in the organization of the ALs leads to differences in odor information processing that finally result in size-related differences in trail-following behavior. PMID:19950119

  2. Phenotypic plasticity and fitness in egg parasitoids.

    PubMed

    Boivin, Guy

    2010-01-01

    Several proxies can be used to estimate the fitness of egg parasitoids: size, longevity, fecundity, mating ability and vagility. All these proxies are positively correlated with the lifetime fitness gain of an individual. However, the phenotypic plasticity, which is the ability of a genotype to produce distinct phenotypes depending on environmental conditions, may alter the value of these proxies. Host related factors (host species and quality), competition and duration of development will influence the proxies expressed by a given phenotype. When the phenotype is modified by the temperature at which an individual develops, the resulting phenotype will vary based on the life history strategy of the parasitoid. While in koinobiont species an increase in size is positively correlated with longevity and fecundity, the reverse occurs with idiobiont parasitoids. Using size as a proxy could thus be misleading depending on the factors that influence the size of the adult. PMID:20877978

  3. Formation of new halogenothiocarbonylsulfenyl halides, XC(S)SY, through photochemical matrix reactions starting from CS2 and a dihalogen molecule XY (XY=Cl2, Br2, or BrCl).

    PubMed

    Tobón, Yeny A; Romano, Rosana M; Védova, Carlos O Della; Downs, Anthony J

    2007-05-28

    Isolation of a dihalogen molecule XY (XY=Cl2, Br2, or BrCl) with CS2 in a solid Ar matrix at about 15 K leads, by broad-band UV-vis photolysis (200

  4. Causes of male sexual trait divergence in introduced populations of guppies.

    PubMed

    Lindholm, A K; Head, M L; Brooks, R C; Rollins, L A; Ingleby, F C; Zajitschek, S R K

    2014-02-01

    Males from different populations of the same species often differ in their sexually selected traits. Variation in sexually selected traits can be attributed to sexual selection if phenotypic divergence matches the direction of sexual selection gradients among populations. However, phenotypic divergence of sexually selected traits may also be influenced by other factors, such as natural selection and genetic constraints. Here, we document differences in male sexual traits among six introduced Australian populations of guppies and untangle the forces driving divergence in these sexually selected traits. Using an experimental approach, we found that male size, area of orange coloration, number of sperm per ejaculate and linear sexual selection gradients for male traits differed among populations. Within populations, a large mismatch between the direction of selection and male traits suggests that constraints may be important in preventing male traits from evolving in the direction of selection. Among populations, however, variation in sexual selection explained more than half of the differences in trait variation, suggesting that, despite within-population constraints, sexual selection has contributed to population divergence of male traits. Differences in sexual traits were also associated with predation risk and neutral genetic distance. Our study highlights the importance of sexual selection in trait divergence in introduced populations, despite the presence of constraining factors such as predation risk and evolutionary history. PMID:24456226

  5. The Nature of Stable Insomnia Phenotypes

    PubMed Central

    Pillai, Vivek; Roth, Thomas; Drake, Christopher L.

    2015-01-01

    Study Objectives: We examined the 1-y stability of four insomnia symptom profiles: sleep onset insomnia; sleep maintenance insomnia; combined onset and maintenance insomnia; and neither criterion (i.e., insomnia cases that do not meet quantitative thresholds for onset or maintenance problems). Insomnia cases that exhibited the same symptom profile over a 1-y period were considered to be phenotypes, and were compared in terms of clinical and demographic characteristics. Design: Longitudinal. Setting: Urban, community-based. Participants: Nine hundred fifty-four adults with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition based current insomnia (46.6 ± 12.6 y; 69.4% female). Interventions: None. Measurements and results: At baseline, participants were divided into four symptom profile groups based on quantitative criteria. Follow-up assessment 1 y later revealed that approximately 60% of participants retained the same symptom profile, and were hence judged to be phenotypes. Stability varied significantly by phenotype, such that sleep onset insomnia (SOI) was the least stable (42%), whereas combined insomnia (CI) was the most stable (69%). Baseline symptom groups (cross-sectionally defined) differed significantly across various clinical indices, including daytime impairment, depression, and anxiety. Importantly, however, a comparison of stable phenotypes (longitudinally defined) did not reveal any differences in impairment or comorbid psychopathology. Another interesting finding was that whereas all other insomnia phenotypes showed evidence of an elevated wake drive both at night and during the day, the “neither criterion” phenotype did not; this latter phenotype exhibited significantly higher daytime sleepiness despite subthreshold onset and maintenance difficulties. Conclusions: By adopting a stringent, stability-based definition, this study offers timely and important data on the longitudinal trajectory of specific insomnia phenotypes. With the exception of daytime sleepiness, few clinical differences are apparent across stable phenotypes. Citation: Pillai V, Roth T, Drake CL. The nature of stable insomnia phenotypes. SLEEP 2015;38(1):127–138. PMID:25325468

  6. Association between antennal phenotype, wing polymorphism and sex in the genus Mepraia (Reduviidae: Triatominae).

    PubMed

    Moreno, Mariana Laura; Gorla, David; Catalá, Silvia

    2006-05-01

    Mepraia spinolai and Mepraia gajardoi (Hemiptera, Reduviidae) are only found in the arid regions of northern Chile. Mepraia is the only genus of Triatominae with marked wing polymorphism. Females of both species are micropterous, males of M. spinolai may be micropterous, brachypterous or macropterous, while males of M. gajardoi are always brachypterous. Because of this wing polymorphism, Mepraia can be used as a model to analyze morphological adaptations related to the flying activity and evolutionary relationships in the Triatominae. The study presented here analyses the antennal phenotype of the Mepraia species and carries out a comparison with the two species of Triatoma included in the spinolai complex (Triatoma eratyrusiformis and Triatoma breyeri). The analysis of the antennal phenotype of Mepraia showed a marked intraspecific phenotypic variability related with sex and wing condition. The number and length of multiporous trichoid sensilla (TH) on the pedicel are significantly higher and longer in winged males and are strongly reduced in females. The great length of the TH sensillum is an infrequent characteristic within Triatominae. The results show that phenetic distances between sexes are greater than between the two species. Similarity between the Mepraia species and T. eratyrusiformis was found as they all show long bristles (BR) and TH and two sized basiconic receptors (BA), a pattern that have not been observed in other species of Triatominae. These characters are not present in T. breyeri. PMID:16081323

  7. Phenotype MicroArrays for High-Throughput Phenotypic Testing and Assay of Gene Function

    PubMed Central

    Bochner, Barry R.; Gadzinski, Peter; Panomitros, Eugenia

    2001-01-01

    The bacterium Escherichia coli is used as a model cellular system to test and validate a new technology called Phenotype MicroArrays (PMs). PM technology is a high-throughput technology for simultaneous testing of a large number of cellular phenotypes. It consists of preconfigured well arrays in which each well tests a different cellular phenotype and an automated instrument that continuously monitors and records the response of the cells in all wells of the arrays. For example, nearly 700 phenotypes of E. coli can be assayed by merely pipetting a cell suspension into seven microplate arrays. PMs can be used to directly assay the effects of genetic changes on cells, especially gene knock-outs. Here, we provide data on phenotypic analysis of six strains and show that we can detect expected phenotypes as well as, in some cases, unexpected phenotypes. PMID:11435407

  8. Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome.

    PubMed

    Bussmann, Neidin; Cunningham, Katie; Green, Andrew; Ryan, C Anthony

    2015-01-01

    Mosaic trisomy 18 (Edwards syndrome) in monozygotic diamniotic liveborn twins is rare. We describe such a case involving preterm male infants. Although both infants had a low percentage of trisomy 18 cells in peripheral blood leucocytes, their varied phenotypic presentation of mosaic trisomy 18 resulted in one twin surviving, with the other twin's demise at 1?month of age. Despite the presence of trisomy 18 in peripheral leucocytes, further analysis of a buccal smear and skin biopsy of the surviving twin did not show evidence of trisomy 18. Establishing such diagnoses in a timely manner is imperative for the child, parents and clinicians. The clinical course of these twins reflects the unpredictable prognosis associated with the diagnosis of mosaic trisomy 18, and emphasises the challenges that can be encountered when counselling parents. PMID:26561224

  9. ORIGINAL PAPER Increased MaleMale Courtship in Ecdysone Receptor Deficient

    E-print Network

    Ganter, Geoffrey

    ORIGINAL PAPER Increased Male­Male Courtship in Ecdysone Receptor Deficient Adult Flies Geoffrey K 2007 Ó Springer Science+Business Media, LLC 2007 Abstract Male­male courtship is infrequent among, they engaged in elevated levels of male­male courtship. EcR-deficient males courted wildtype males and females

  10. Stationary point analysis of the one-dimensional lattice Landau gauge fixing functional, aka random phase XY Hamiltonian

    SciTech Connect

    Mehta, Dhagash; Kastner, Michael

    2011-06-15

    Research Highlights: > Exact results for all stationary points of some high-dimensional function are given. > They are interpreted as Gribov copies of a lattice Landau gauge fixing functional. > The Gribov ambiguity and the Neuberger problem in compact U(1) are illustrated. > Stationary points are used to discuss a criterion on the absence of phase transitions. - Abstract: We study the stationary points of what is known as the lattice Landau gauge fixing functional in one-dimensional compact U(1) lattice gauge theory, or as the Hamiltonian of the one-dimensional random phase XY model in statistical physics. An analytic solution of all stationary points is derived for lattices with an odd number of lattice sites and periodic boundary conditions. In the context of lattice gauge theory, these stationary points and their indices are used to compute the gauge fixing partition function, making reference in particular to the Neuberger problem. Interpreted as stationary points of the one-dimensional XY Hamiltonian, the solutions and their Hessian determinants allow us to evaluate a criterion which makes predictions on the existence of phase transitions and the corresponding critical energies in the thermodynamic limit.

  11. In Vitro and Molecular Modeling Analysis of Two Mutant Desert Hedgehog Proteins Associated with 46,XY Gonadal Dysgenesis

    PubMed Central

    Castro, Josué Joram; Méndez, Juan Pablo; Coral-Vázquez, Ramón Mauricio; Soriano-Ursúa, Marvin Antonio; Damian-Matsumura, Pablo; Benítez-Granados, Jesús; Rosas-Vargas, Haydee

    2013-01-01

    Mutations of Desert hedgehog (DHH) have been associated to 46,XY pure gonadal dysgenesis (PGD) and to mixed gonadal dysgenesis (MGD); however, there have been no functional studies of mutations described in DHH. To determine if mutations p.L162P and ?1086delG yield functional impairment, we performed in vitro and in silico analysis of both DHH mutants. In complementary DNA of DHH, we performed site-directed mutagenesis, which was confirmed by DNA sequencing. Protein extracts were obtained from HEK293cells transfected with different constructs and analyzed by Western blot; besides, densitometric analysis of chemiluminescent signals was performed. In addition, the structure of the wt-DHH and its two mutant proteins was inferred using in silico protein molecular modeling. In the Western blot analysis, we observed the absence of signal for p.L162P in DHH-N and a diminished signal for ?1086delG in DHH-C, when compared to wt-DHH. Protein modeling showed notable conformational changes for the side chains of p.L162P, while the secondary structure was drastically modified in ?1086delG, when compared to wt-DHH. To our knowledge, this is the first study focused to determine by in vitro studies, the effect of two specific mutations in DHH associated with 46,XY PGD and MGD. Our results suggest that both mutations have a deleterious effect on the expression of the DHH mutant proteins. PMID:23786321

  12. HIGH FILL-OUT, EXTREME MASS RATIO OVERCONTACT BINARY SYSTEMS. X. THE NEWLY DISCOVERED BINARY XY LEONIS MINORIS

    SciTech Connect

    Qian, S.-B.; Liu, L.; Zhu, L.-Y.; He, J.-J.; Bernasconi, L. E-mail: yygcn@163.com

    2011-05-15

    The newly discovered short-period close binary star, XY LMi, has been monitored photometrically since 2006. Its light curves are typical EW-type light curves and show complete eclipses with durations of about 80 minutes. Photometric solutions were determined through an analysis of the complete B, V, R, and I light curves using the 2003 version of the Wilson-Devinney code. XY LMi is a high fill-out, extreme mass ratio overcontact binary system with a mass ratio of q = 0.148 and a fill-out factor of f = 74.1%, suggesting that it is in the late evolutionary stage of late-type tidal-locked binary stars. As observed in other overcontact binary stars, evidence for the presence of two dark spots on both components is given. Based on our 19 epochs of eclipse times, we found that the orbital period of the overcontact binary is decreasing continuously at a rate of dP/dt = -1.67 x 10{sup -7} days yr{sup -1}, which may be caused by mass transfer from the primary to the secondary and/or angular momentum loss via magnetic stellar wind. The decrease of the orbital period may result in the increase of the fill-out, and finally, it will evolve into a single rapid-rotation star when the fluid surface reaches the outer critical Roche lobe.

  13. Hutchinson-Gilford progeria syndrome: Oral and craniofacial phenotypes

    PubMed Central

    Domingo, D.L.; Trujillo, M.I.; Council, S.E.; Merideth, M.A.; Gordon, L.B.; Wu, T.; Introne, W.J.; Gahl, W.A.; Hart, T.C.

    2008-01-01

    OBJECTIVE Hutchinson-Gilford progeria syndrome (HGPS) is a rare early-onset accelerated senescence syndrome. In HGPS, a recently identified de novo dominant mutation of the lamin A gene (LMNA) produces abnormal lamin A, resulting in compromised nuclear membrane integrity. Clinical features include sclerotic skin, cardiovascular and bone abnormalities, and marked growth retardation. Craniofacial features include “bird-like” facies, alopecia, craniofacial disproportion and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS. METHODS Fifteen patients with confirmed p.G608G LMNA mutation (1–17 years, 7 males, 8 females) received comprehensive oral evaluations. Anomalies of oral soft tissue, gnathic bones and dentition were identified. RESULTS Radiographic findings included hypodontia (n=7), dysmorphic teeth (n=5), steep mandibular angles (n=11), and thin basal bone (n=11). Soft tissue findings included ogival palatal arch (n=8), median sagittal palatal fissure (n=7), and ankyloglossia (n=7). Calculated dental ages (9months–11y2m) were significantly lower than chronological ages (1y6m–17y8m) (p=0.002). Eleven children manifested a shorter mandibular body, anterior/posterior cranial base and ramus, but a larger gonial angle, compared to age/gender/race norms. CONCLUSION Novel oral-craniofacial phenotypes and quantification of previously reported features are presented. Our findings expand the HGPS phenotype and provide additional insight into the complex pathogenesis of HGPS. PMID:19236595

  14. Menkes disease with discordant phenotype in female monozygotic twins.

    PubMed

    Burgemeister, Anna Lena; Zirn, Birgit; Oeffner, Frank; Kaler, Stephen G; Lemm, Gunther; Rossier, Eva; Büttel, Hans-Martin

    2015-11-01

    Menkes disease (MD) is a rare X-linked recessive disorder caused by mutations in the ATP7A gene. This neurodegenerative disorder typically affects males and is characterized by impaired copper distribution and the malfunction of several copper-dependent enzymes. We report clinically discordant female monozygotic twins (MZT) with a heterozygous ATP7A mutation. One twin girl is healthy at the current age of 4 years, whereas the other twin girl developed classical MD, showed disease stabilization under copper histidine treatment but died at the age of 3 years. Presumably, the affected girl developed MD due to skewed X inactivation, although this could not be demonstrated in two tissues (blood, buccal mucosa). This case is a rare example of an affected girl with MD and shows the possibility of a discordant phenotype in MZT girls. As speculated in other X-linked diseases, the process of monozygotic twinning may be associated with skewed X inactivation leading to a discordant phenotype. © 2015 Wiley Periodicals, Inc. PMID:26239182

  15. Association between brain structure and phenotypic characteristics in pedophilia.

    PubMed

    Poeppl, Timm B; Nitschke, Joachim; Santtila, Pekka; Schecklmann, Martin; Langguth, Berthold; Greenlee, Mark W; Osterheider, Michael; Mokros, Andreas

    2013-05-01

    Studies applying structural neuroimaging to pedophiles are scarce and have shown conflicting results. Although first findings suggested reduced volume of the amygdala, pronounced gray matter decreases in frontal regions were observed in another group of pedophilic offenders. When compared to non-sexual offenders instead of community controls, pedophiles revealed deficiencies in white matter only. The present study sought to test the hypotheses of structurally compromised prefrontal and limbic networks and whether structural brain abnormalities are related to phenotypic characteristics in pedophiles. We compared gray matter volume of male pedophilic offenders and non-sexual offenders from high-security forensic hospitals using voxel-based morphometry in cross-sectional and correlational whole-brain analyses. The significance threshold was set to p < .05, corrected for multiple comparisons. Compared to controls, pedophiles exhibited a volume reduction of the right amygdala (small volume corrected). Within the pedophilic group, pedosexual interest and sexual recidivism were correlated with gray matter decrease in the left dorsolateral prefrontal cortex (r = -.64) and insular cortex (r = -.45). Lower age of victims was strongly associated with gray matter reductions in the orbitofrontal cortex (r = .98) and angular gyri bilaterally (r = .70 and r = .93). Our findings of specifically impaired neural networks being related to certain phenotypic characteristics might account for the heterogeneous results in previous neuroimaging studies of pedophilia. The neuroanatomical abnormalities in pedophilia seem to be of a dimensional rather than a categorical nature, supporting the notion of a multifaceted disorder. PMID:23399486

  16. ICAM-1: Isoforms and Phenotypes

    PubMed Central

    Ramos, Theresa N.; Bullard, Daniel C.; Barnum, Scott R.

    2014-01-01

    Intercellular adhesion molecule-1 (ICAM-1) plays an important role in leukocyte trafficking, immunological synapse formation and, numerous cellular immune responses. Although considered a single glycoprotein, there are multiple membrane bound and soluble ICAM-1 isoforms which arise from alternative splicing and proteolytic cleavage during inflammatory responses. The function and expression of these isoforms on various cell types is poorly understood. In the generation of ICAM-1-deficient mice, two isoform-deficient ICAM-1 mutants were inadvertently produced due to alternative splicing. These mice along with true ICAM-1-deficient mice and newly generated ICAM-1 transgenic mice have provided the opportunity to begin examining the role of ICAM-1 isoforms (singly or in combination) in various disease settings. In this review we highlight the sharply contrasting disease phenotypes using ICAM-1 isoform mutant mice. These studies demonstrate that ICAM-1 immunobiology is highly complex but that individual isoforms, aside from the full-length molecule, make significant contributions to disease development and pathogenesis. PMID:24795464

  17. Adjusting Phenotypes by Noise Control

    PubMed Central

    Kim, Kyung H.; Sauro, Herbert M.

    2012-01-01

    Genetically identical cells can show phenotypic variability. This is often caused by stochastic events that originate from randomness in biochemical processes involving in gene expression and other extrinsic cellular processes. From an engineering perspective, there have been efforts focused on theory and experiments to control noise levels by perturbing and replacing gene network components. However, systematic methods for noise control are lacking mainly due to the intractable mathematical structure of noise propagation through reaction networks. Here, we provide a numerical analysis method by quantifying the parametric sensitivity of noise characteristics at the level of the linear noise approximation. Our analysis is readily applicable to various types of noise control and to different types of system; for example, we can orthogonally control the mean and noise levels and can control system dynamics such as noisy oscillations. As an illustration we applied our method to HIV and yeast gene expression systems and metabolic networks. The oscillatory signal control was applied to p53 oscillations from DNA damage. Furthermore, we showed that the efficiency of orthogonal control can be enhanced by applying extrinsic noise and feedback. Our noise control analysis can be applied to any stochastic model belonging to continuous time Markovian systems such as biological and chemical reaction systems, and even computer and social networks. We anticipate the proposed analysis to be a useful tool for designing and controlling synthetic gene networks. PMID:22253584

  18. MRI Phenotype in Renal Cancer

    PubMed Central

    Campbell, Naomi; Rosenkrantz, Andrew B.; Pedrosa, Ivan

    2015-01-01

    Renal cell carcinoma (RCC) is most commonly diagnosed as an incidental finding on cross-sectional imaging and represents a significant clinical challenge. Although most patients have a surgically curable lesion at the time of diagnosis, the variability in the biologic behavior of the different histologic subtypes and tumor grade of RCC, together with the increasing array of management options, creates uncertainty for the optimal clinical approach to individual patients. State-of-the-art magnetic resonance imaging (MRI) provides a comprehensive assessment of renal lesions that includes multiple forms of tissue contrast as well as functional parameters, which in turn provides information that helps to address this dilemma. In this article, we review this evolving and increasingly comprehensive role of MRI in the detection, characterization, perioperative evaluation, and assessment of the treatment response of renal neoplasms. We emphasize the ability of the imaging “phenotype” of renal masses on MRI to help predict the histologic subtype, grade, and clinical behavior of RCC. PMID:24690616

  19. nd Talk: Phenotypic Evolution Evolutionary Fluctuation-Response Relation

    E-print Network

    Kaneko, Kunihiko

    · nd Talk: Phenotypic Evolution · Evolutionary Fluctuation-Response Relation · Evolution · Evolution of Development · Spontaneous Adaptation by Noise · Summary+Discussion #12;Motivation 1:Phenotypic evolutionary genetics; (0) selection is based on phenotype activity, size, protein abundances, fluorescence

  20. Phenoscape: Identifying Candidate Genes for Evolutionary Phenotypes

    PubMed Central

    Edmunds, Richard C.; Su, Baofeng; Balhoff, James P.; Eames, B. Frank; Dahdul, Wasila M.; Lapp, Hilmar; Lundberg, John G.; Vision, Todd J.; Dunham, Rex A.; Mabee, Paula M.; Westerfield, Monte

    2016-01-01

    Phenotypes resulting from mutations in genetic model organisms can help reveal candidate genes for evolutionarily important phenotypic changes in related taxa. Although testing candidate gene hypotheses experimentally in nonmodel organisms is typically difficult, ontology-driven information systems can help generate testable hypotheses about developmental processes in experimentally tractable organisms. Here, we tested candidate gene hypotheses suggested by expert use of the Phenoscape Knowledgebase, specifically looking for genes that are candidates responsible for evolutionarily interesting phenotypes in the ostariophysan fishes that bear resemblance to mutant phenotypes in zebrafish. For this, we searched ZFIN for genetic perturbations that result in either loss of basihyal element or loss of scales phenotypes, because these are the ancestral phenotypes observed in catfishes (Siluriformes). We tested the identified candidate genes by examining their endogenous expression patterns in the channel catfish, Ictalurus punctatus. The experimental results were consistent with the hypotheses that these features evolved through disruption in developmental pathways at, or upstream of, brpf1 and eda/edar for the ancestral losses of basihyal element and scales, respectively. These results demonstrate that ontological annotations of the phenotypic effects of genetic alterations in model organisms, when aggregated within a knowledgebase, can be used effectively to generate testable, and useful, hypotheses about evolutionary changes in morphology. PMID:26500251

  1. Reduced rDNA copy number does not affect "competitive" chromosome pairing in XYY males of Drosophila melanogaster.

    PubMed

    Maggert, Keith A

    2014-03-01

    The ribosomal DNA (rDNA) arrays are causal agents in X-Y chromosome pairing in meiosis I of Drosophila males. Despite broad variation in X-linked and Y-linked rDNA copy number, polymorphisms in regulatory/spacer sequences between rRNA genes, and variance in copy number of interrupting R1 and R2 retrotransposable elements, there is little evidence that different rDNA arrays affect pairing efficacy. I investigated whether induced rDNA copy number polymorphisms affect chromosome pairing in a "competitive" situation in which complex pairing configurations were possible using males with XYY constitution. Using a common normal X chromosome, one of two different full-length Y chromosomes, and a third chromosome from a series of otherwise-isogenic rDNA deletions, I detected no differences in X-Y or Y-Y pairing or chromosome segregation frequencies that could not be attributed to random variation alone. This work was performed in the context of an undergraduate teaching program at Texas A&M University, and I discuss the pedagogical utility of this and other such experiments. PMID:24449686

  2. Detection of Transgenerational Spermatogenic Inheritance of Adult Male Acquired CNS Gene Expression Characteristics Using a Drosophila Systems Model

    PubMed Central

    Sharma, Abhay; Singh, Priyanka

    2009-01-01

    Available instances of inheritance of epigenetic transgenerational phenotype are limited to environmental exposures during embryonic and adult gonadal development. Adult exposures can also affect gametogenesis and thereby potentially result in reprogramming of the germline. Although examples of epigenetic effects on gametogenesis exist, it is notable that transgenerational inheritance of environment-induced adult phenotype has not yet been reported. Epigenetic codes are considered to be critical in neural plasticity. A Drosophila systems model of pentylenetetrazole (PTZ) induced long-term brain plasticity has recently been described. In this model, chronic PTZ treatment of adult males causes alterations in CNS transcriptome. Here, we describe our search for transgenerational spermatogenic inheritance of PTZ induced gene expression phenotype acquired by adult Drosophila males. We generated CNS transcriptomic profiles of F1 adults after treating F0 adult males with PTZ and of F2 adults resulting from a cross between F1 males and normal females. Surprisingly, microarray clustering showed F1 male profile as closest to F1 female and F0 male profile closest to F2 male. Differentially expressed genes in F1 males, F1 females and F2 males showed significant overlap with those caused by PTZ. Interestingly, microarray evidence also led to the identification of upregulated rRNA in F2 males. Next, we generated microarray expression profiles of adult testis from F0 and F1 males. Further surprising, clustering of CNS and testis profiles and matching of differentially expressed genes in them provided evidence of a spermatogenic mechanism in the transgenerational effect observed. To our knowledge, we report for the first time detection of transgenerational spermatogenic inheritance of adult acquired somatic gene expression characteristic. The Drosophila systems model offers an excellent opportunity to understand the epigenetic mechanisms underlying the phenomenon. The finding that adult acquired transcriptomic alteration in soma is spermatogenically inherited across generations has potential implications in human health and evolution. PMID:19503609

  3. Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype.

    PubMed

    Velinov, M; Kupferman, J; Gu, H; Macera, M J; Babu, A; Jenkins, E C; Kupchik, G

    2005-01-01

    A three year-old boy was evaluated because of growth and developmental delay, hypotonia and dysmorphic features. G-banding analysis revealed a small interstitial deletion of the long arm of chromosome four described as 46,XY,del (4)(q21.1q21.3). This patient's findings on physical exam included relative macrocephaly, frontal bossing, short fingers with clinodactyly and were consistent with the phenotypes of previously reported deletions involving the 4q21--> 4q22 band region (Am. J. Med. Genet. 68 (1997) 400-405). To date there are 10 reported live-born cases with such deletions and similar features. The case reported here delimits a minimal critical region for this phenotype to chromosomal region 4q21. Our patient was also found to have cysts in both his kidneys. The gene for type II polycystic kidney disease (PKD2) has been mapped to chromosomal region 4q21--> 4q23. FISH analysis, with a probe including the PKD2 gene, demonstrated hemizygosity at this locus. Thus the absence of one of the PKD2 alleles in the case reported here is associated with early bilateral cyst development. Kidney ultrasound/autopsy studies were reported in seven of the patients with the characteristic phenotype, and were positive for cysts in four cases including the one presented here (Clin. Genet. 31 (1987) 199-205; Am. J. Med. Genet. 68 (1997) 400-405; Am. J. Med. Genet. 40 (1991) 77-790. Our report supports the presence of a distinct phenotype associated with a deleted chromosomal region within 4q21. Hemizygosity for the PKD2 gene is likely in such deletions and may lead to renal cyst formation. PMID:15953406

  4. Regions of XY homology in the pig X chromosome and the boundary of the pseudoautosomal region

    E-print Network

    Skinner, Benjamin M.; Lachani, Kim; Sargent, Carole A.; Affara, Nabeel A.

    2013-01-15

    was extracted using a Qiagen Blood and Tissue Kit. Male DNA was obtained from muscle provided by Genus, from a Duroc boar being rou- tinely culled. Female gDNA was extracted from Duroc sow fibroblast cell line 2–14 provided by Fengtang Yang at the Wellcome Trust... EH, Kulomaa MS, Ewald D, Masabanda J, Sazanov A, Fries R: Characterization and chromosomal localization of the chicken avidin gene family. Anim Genet 2000, 31:367–375. 36. Griffin DK, Haberman F, Masabanda J, O’Brien P, Bagga M, Sazanov A, Smith J...

  5. Male tolerance and male–male bonds in a multilevel primate society

    PubMed Central

    Patzelt, Annika; Kopp, Gisela H.; Ndao, Ibrahima; Kalbitzer, Urs; Zinner, Dietmar

    2014-01-01

    Male relationships in most species of mammals generally are characterized by intense intrasexual competition, with little bonding among unrelated individuals. In contrast, human societies are characterized by high levels of cooperation and strong bonds among both related and unrelated males. The emergence of cooperative male–male relationships has been linked to the multilevel structure of traditional human societies. Based on an analysis of the patterns of spatial and social interaction in combination with genetic relatedness data of wild Guinea baboons (Papio papio), we show that this species exhibits a multilevel social organization in which males maintain strong bonds and are highly tolerant of each other. Several “units” of males with their associated females form “parties,” which team up as “gangs.” Several gangs of the same “community” use the same home range. Males formed strong bonds predominantly within parties; however, these bonds were not correlated with genetic relatedness. Agonistic interactions were relatively rare and were restricted to a few dyads. Although the social organization of Guinea baboons resembles that of hamadryas baboons, we found stronger male–male affiliation and more elaborate greeting rituals among male Guinea baboons and less aggression toward females. Thus, the social relationships of male Guinea baboons differ markedly from those of other members of the genus, adding valuable comparative data to test hypotheses regarding social evolution. We suggest that this species constitutes an intriguing model to study the predictors and fitness benefits of male bonds, thus contributing to a better understanding of the evolution of this important facet of human social behavior. PMID:25201960

  6. Do male secondary sexual characters correlate with testis size and sperm length in the small hairy maggot blowfly?

    PubMed

    Jones, Stephanie D; Wallman, James F; Byrne, Phillip G

    2015-12-01

    The phenotype-linked fertility hypothesis proposes that secondary sexual characters (SSCs) advertise a male's fertility to prospective mates. However, findings from empirical studies attempting to test this hypothesis are often ambivalent or even contradictory, and few studies have simultaneously evaluated how both morphological and behavioural SSCs relate to ejaculate characteristics. Males of the small hairy maggot blowfly, Chrysomya varipes, possess conspicuous foreleg ornaments and display highly stereotyped courtship behaviour. These traits are favoured by females during pre-copulatory mate choice, but it remains unknown whether they correlate with post-copulatory traits expected to influence male fertility. The aim of this study was to investigate whether male courtship and ornamentation correlate with testis size and sperm length in C. varipes. We found that males investing more in courtship had bigger testes, and males with more extensive foreleg ornamentation released sperm with longer tails. Based on the assumption that larger testes enable males to produce more sperm, and that sperm with longer tails have greater propulsive force, our findings suggest that more vigorous and more ornamented males may be more fertile. These findings lend support to the phenotype-linked fertility hypothesis. However, a complete test of this hypothesis will require evaluating whether testis size and sperm length influence male fertilisation ability, as well as female fecundity and/or fertility. PMID:26297128

  7. Educating Black Males with Dyslexia

    ERIC Educational Resources Information Center

    Robinson, Shawn Anthony

    2013-01-01

    Much of the scholarship on Black males in the educational literature focuses on the achievement gap; their underrepresentation in gifted and advanced placement programs; their overrepresentation in special education programs and their high rates of school suspensions and expulsions. Although overrepresented in special education, Black males with…

  8. Eating Disorders in Adolescent Males

    ERIC Educational Resources Information Center

    Ray, Shannon L.

    2004-01-01

    Research indicates that the primary onset of eating disorders occurs in adolescence and that there is a growing prevalence of adolescent males with eating disorders. This article describes the eating disorders of anorexia nervosa and bulimia nervosa as they relate to adolescent males. Diagnostic criteria, at-risk groups, and implications for…

  9. Survivorship Clinic Male Health Issues

    E-print Network

    Brent, Roger

    reproductive system functions and how it may be affected by therapy given to treat cancer. The male reproductive system contains many structures and is controlled by the pituitary gland in the brain hair, and muscular development of the body. How does cancer therapy affect the male reproductive system

  10. Evaluation of degradation in DNA from males with a quantitative gender typing, endpoint PCR multiplex.

    PubMed

    Smith, Byron C; Vandegrift, Emily; Fuller, Valerie Mattimore; Allen, Robert W

    2015-03-01

    Evidentiary samples submitted to a forensic DNA laboratory occasionally yield DNA that is degraded. Samples of intact chromosomal DNA (both nuclear and mitochondrial) were subjected to a heating protocol to induce DNA degradation. The DNAs were then analyzed using a multiplex PCR assay that amplifies targets of low and high molecular weight on the X/Y and mitochondrial chromosomes. If degradation is random, the amplification of larger DNA targets should be more adversely affected by degradation than smaller targets. In nuclear and mitochondrial DNA from a male donor, exhibiting degradation, DNA quantity estimates based upon higher molecular weight amplicons (HMW) are significantly lower than estimates made using low molecular weight (LMW) Q-TAT amplicons. DNA degradation estimated using this approach correlated well with actual fluorescence associated with HMW and LMW STR alleles amplified from the same genomic DNA templates. Q-TAT is thus useful not only as a quantitation tool, but also as an indicator of template degradation. PMID:25537731

  11. Competitive females are successful females; phenotype, mechanism and selection in a common songbird

    PubMed Central

    Cain, Kristal E.; Ketterson, Ellen D.

    2011-01-01

    In a variety of taxa, male reproductive success is positively related to expression of costly traits such as large body size, ornaments, armaments, and aggression. These traits are thought to improve male competitive ability, and thus access to limited reproductive resources. Females of many species also express competitive traits. However, we know very little about the consequences of individual variation in competitive traits and the mechanisms that regulate their expression in females. Consequently, it is currently unclear whether females express competitive traits owing to direct selection or as an indirect result of selection on males. Here we examine females of a mildly dimorphic songbird (Junco hyemalis) to determine whether females, show positive covariance in traits (morphology and behavior) that may be important in a competition. We also examine whether trait expression relates either to testosterone (T) in terms of mechanism or to reproductive success in terms of function. We found that larger females were more aggressive and that greater ability to produce T in response to a physiological challenge consisting of a standardized injection of gonadotropin releasing hormone (GnRH) predicted some measures of female body size and aggression. Finally, we found that aggressive females had greater reproductive success. We conclude that testosterone may influence female phenotype and that females may benefit from expressing a competitive phenotype. We also suggest that the mild dimorphism observed in many species may be due in part to direct selection on females rather than simply a correlated response to selection in males. PMID:22345899

  12. PhenoBlocks: Phenotype Comparison Visualizations.

    PubMed

    Glueck, Michael; Hamilton, Peter; Chevalier, Fanny; Breslav, Simon; Khan, Azam; Wigdor, Daniel; Brudno, Michael

    2016-01-01

    The differential diagnosis of hereditary disorders is a challenging task for clinicians due to the heterogeneity of phenotypes that can be observed in patients. Existing clinical tools are often text-based and do not emphasize consistency, completeness, or granularity of phenotype reporting. This can impede clinical diagnosis and limit their utility to genetics researchers. Herein, we present PhenoBlocks, a novel visual analytics tool that supports the comparison of phenotypes between patients, or between a patient and the hallmark features of a disorder. An informal evaluation of PhenoBlocks with expert clinicians suggested that the visualization effectively guides the process of differential diagnosis and could reinforce the importance of complete, granular phenotypic reporting. PMID:26529691

  13. Automated phenotyping of mouse social behavior

    E-print Network

    Edelman, Nicholas (Nicholas A.)

    2011-01-01

    Inspired by the connections between social behavior and intelligence, I have developed a trainable system to phenotype mouse social behavior. This system is of immediate interest to researchers studying mouse models of ...

  14. Approaches to protozoan drug discovery: phenotypic screening.

    PubMed

    Sykes, Melissa L; Avery, Vicky M

    2013-10-24

    Determining the activity of a compound and the potential impact on a diseased state is frequently undertaken using phenotypic or target-based approaches. Phenotypic screens have the advantage of the whole organism being exposed to the compound and thus all the targets and biological pathways associated with it. Cell penetration and access to targets in their "natural" environment are taken into account. Unless utilizing a genetically modified organism with an additional target associated indicator, elucidation of specific target(s) of active compounds is necessary. Target discovery is desirable to allow development of chemical entities based upon knowledge of the target structure. Phenotypic drug discovery has successfully identified new molecular entities for neglected protozoan disease research. In this perspective, the phenotypic approaches used to identify chemical entities for drug discovery and for use as tools against the parasites Plasmodium falciparum, Trypanosoma brucei brucei, and Trypanosoma cruzi will be outlined. PMID:23927763

  15. PATTERNS & PHENOTYPES Zebrafish Nephrogenesis Involves Dynamic

    E-print Network

    Tank, Jennifer L.

    a PATTERNS & PHENOTYPES Zebrafish Nephrogenesis Involves Dynamic Spatiotemporal Expression Changes progenitors are poorly understood. Here, we used the zebrafish pronephros to study nephron segmentation. We found that zebrafish nephron progenitors undergo elaborate spatiotemporal expression changes of many

  16. Advanced phenotyping and phenotype data analysis for the study of plant growth and development

    PubMed Central

    Rahaman, Md. Matiur; Chen, Dijun; Gillani, Zeeshan; Klukas, Christian; Chen, Ming

    2015-01-01

    Due to an increase in the consumption of food, feed, fuel and to meet global food security needs for the rapidly growing human population, there is a necessity to breed high yielding crops that can adapt to the future climate changes, particularly in developing countries. To solve these global challenges, novel approaches are required to identify quantitative phenotypes and to explain the genetic basis of agriculturally important traits. These advances will facilitate the screening of germplasm with high performance characteristics in resource-limited environments. Recently, plant phenomics has offered and integrated a suite of new technologies, and we are on a path to improve the description of complex plant phenotypes. High-throughput phenotyping platforms have also been developed that capture phenotype data from plants in a non-destructive manner. In this review, we discuss recent developments of high-throughput plant phenotyping infrastructure including imaging techniques and corresponding principles for phenotype data analysis. PMID:26322060

  17. Females prefer carotenoid colored males as mates in the pentamorphic livebearing fish, Poecilia parae.

    PubMed

    Bourne, Godfrey R; Breden, Felix; Allen, Teresa C

    2003-09-01

    The first results of female preference and chosen male mating success in a new model organism, the pentamorphic livebearing fish, Poecilia parae, are presented. Poecilia parae is a relative of the guppy, P. reticulata, and is assumed to have similar reproductive behavior. We tested the hypothesis that P. parae females, like female guppies, prefer carotenoid colored males as mates. Here we show that the time a female spent with males was significantly greater for carotenoid coloration in red and yellow melanzona, but time with these two morphs did not differ. The preferred red and yellow males mated significantly more often with their choosing females than did the non-preferred blue and parae males. The few blue melanzona and parae males that mated did so without performing courtship displays. Some females mated with all phenotypes including immaculata males during open group trials. Female P. parae clearly preferred males with carotenoid coloration, thereby corroborating the hypothesis. Alternative male mating tactics by blue melanzona, parae, and immaculata morphs and promiscuous mating by females also resembled features of reproductive behaviors exhibited by guppies. PMID:14504782

  18. A database of C. elegans behavioral phenotypes

    PubMed Central

    Yemini, Eviatar; Jucikas, Tadas; Grundy, Laura J.; Brown, André E.X.; Schafer, William R.

    2014-01-01

    Using low-cost automated tracking microscopes, we have generated a behavioral database for 305 C. elegans strains, including 76 mutants with no previously described phenotype. The database consists of 9,203 short videos segmented to extract behavior and morphology features that are available online for further analysis. The database also includes summary statistics for 702 measures with statistical comparisons to wild-type controls so that phenotypes can be identified and understood by users. PMID:23852451

  19. Phenotype standardization for statin-induced myotoxicity.

    PubMed

    Alfirevic, A; Neely, D; Armitage, J; Chinoy, H; Cooper, R G; Laaksonen, R; Carr, D F; Bloch, K M; Fahy, J; Hanson, A; Yue, Q-Y; Wadelius, M; Maitland-van Der Zee, A H; Voora, D; Psaty, B M; Palmer, C N A; Pirmohamed, M

    2014-10-01

    Statins are widely used lipid-lowering drugs that are effective in reducing cardiovascular disease risk. Although they are generally well tolerated, they can cause muscle toxicity, which can lead to severe rhabdomyolysis. Research in this area has been hampered to some extent by the lack of standardized nomenclature and phenotypic definitions. We have used numerical and descriptive classifications and developed an algorithm to define statin-related myotoxicity phenotypes, including myalgia, myopathy, rhabdomyolysis, and necrotizing autoimmune myopathy. PMID:24897241

  20. Phenotype Standardization for Statin-Induced Myotoxicity

    PubMed Central

    Alfirevic, A; Neely, D; Armitage, J; Chinoy, H; Cooper, R G; Laaksonen, R; Carr, D F; Bloch, K M; Fahy, J; Hanson, A; Yue, Q-Y; Wadelius, M; Maitland-van Der Zee, A H; Voora, D; Psaty, B M; Palmer, C N A; Pirmohamed, M

    2014-01-01

    Statins are widely used lipid-lowering drugs that are effective in reducing cardiovascular disease risk. Although they are generally well tolerated, they can cause muscle toxicity, which can lead to severe rhabdomyolysis. Research in this area has been hampered to some extent by the lack of standardized nomenclature and phenotypic definitions. We have used numerical and descriptive classifications and developed an algorithm to define statin-related myotoxicity phenotypes, including myalgia, myopathy, rhabdomyolysis, and necrotizing autoimmune myopathy. PMID:24897241

  1. Celtic ancestry, HLA phenotype and increased risk of skin cancer.

    PubMed

    Long, C C; Darke, C; Marks, R

    1998-04-01

    Individuals of Celtic ancestry are claimed to be at greater risk of skin cancer than non-Celts, and various positive and negative associations between certain human leucocyte antigen (HLA) phenotypes and the development of skin cancer have been described. The aims of this study were to determine whether any HLA phenotypes are associated either with Celtic or non-Celtic ancestry, or skin type. One thousand and ten members of the Welsh Bone Marrow Donor Registry (WBMDR), whose HLA phenotypes are known, were asked to complete a questionnaire which enquired as to their family origins and their 'Index of Celtic Ancestry' scored out of 12. Three groups were identified: non-Celts (score < 3), Celts (score > 9), and a subset of the Celts--'high scoring' Celts (score > 10). Details of hair and eye colour and skin type were also requested. Skin type and HLA-A, -B, -DR and -DQ frequencies were compared between the three groups (Celts, non-Celts and 'high scoring' Celts), and a random indigenous population of 9196 members of the WBMDR. Seven hundred and thirty-six replies were received (279 male, 457 female, mean age 31 years). One hundred and forty-four Celts, 51 'high scoring' Celts and 170 non-Celts were identified. Forty-six (32%) Celts had skin type I or II compared with 36 (21%) non-Celts (P = 0.039), and 37 (73%) 'high scoring' Celts had skin type I or II (P < 0.0001). However, there were no significant differences between the groups with regard to hair colour, eye colour or number of episodes of painful sunburn. The frequency of HLA-DR4 was 32% in the non-Celtic group, 44% in the Celtic group (not significant), and 53% in the 'high scoring' Celts (P = 0.008). However, the difference was not significant after correction. There were no significant associations between skin type and HLA phenotype. HLA-DR4 is known to be associated with an increased risk of both basal cell carcinoma and malignant melanoma and its increased frequency in Celts may be an independent risk factor for skin cancer in addition to skin type. PMID:9640367

  2. Genetic dissection of meiotic cytokinesis in Drosophila males.

    PubMed

    Giansanti, Maria Grazia; Farkas, Rebecca M; Bonaccorsi, Silvia; Lindsley, Dan L; Wakimoto, Barbara T; Fuller, Margaret T; Gatti, Maurizio

    2004-05-01

    We have used Drosophila male meiosis as a model system for genetic dissection of the cytokinesis mechanism. Drosophila mutants defective in meiotic cytokinesis can be easily identified by their multinucleate spermatids. Moreover, the large size of meiotic spindles allows characterization of mutant phenotypes with exquisite cytological resolution. We have screened a collection of 1955 homozygous mutant male sterile lines for those with multinucleate spermatids, and thereby identified mutations in 19 genes required for cytokinesis. These include 16 novel loci and three genes, diaphanous, four wheel drive, and pebble, already known to be involved in Drosophila cytokinesis. To define the primary defects leading to failure of cytokinesis, we analyzed meiotic divisions in male mutants for each of these 19 genes. Examination of preparations stained for tubulin, anillin, KLP3A, and F-actin revealed discrete defects in the components of the cytokinetic apparatus, suggesting that these genes act at four major points in a stepwise pathway for cytokinesis. Our results also indicated that the central spindle and the contractile ring are interdependent structures that interact throughout cytokinesis. Moreover, our genetic and cytological analyses provide further evidence for a cell type-specific control of Drosophila cytokinesis, suggesting that several genes required for meiotic cytokinesis in males are not required for mitotic cytokinesis. PMID:15004238

  3. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: Meiotic studies in a man with a deletion of distal Xp

    SciTech Connect

    Mohandas, T.K.; Passage, M.B.; Yen, P.H.; Speed, R.M.; Chandley, A.C.; Shapiro, L.J. )

    1992-09-01

    Meiotic studies were undertaken in a 24-year-old male patient with short stature, chondrodysplasia punctata, ichthyosis, steroid sulfatase deficiency, and mild mental retardation with an inherited cytologically visible deletion of distal Xp. Molecular investigations showed that the pseudoautosomal region as well as the steroid sulfatase gene were deleted, but telomeric sequences were present at the pter on the deleted X chromosome. A complete failure of sex-chromosome pairing was observed in the primary spermatocytes of the patient. Telomeric approaches between the sex chromosomes were made at zygotene in some cells, but XY synaptonemal complex was formed. The sex chromosomes were present as univalents at metaphase I, and germ-cell development was arrested between metaphase I and metaphase II in the vast majority of cells, consistent with the azoospermia observed in the patient. The failure of XY pairing in this individual indicates that the pseudoautosomal sequences play an important role in initiating XY pairing and formation of synaptonemal complex at meiosis. 36 refs., 6 figs.

  4. Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.

    PubMed

    Chowdhury, Shimul; Bandholz, Anne M; Parkash, Sandhya; Dyack, Sarah; Rideout, Andrea L; Leppig, Kathleen A; Thiese, Heidi; Wheeler, Patricia G; Tsang, Marilyn; Ballif, Blake C; Shaffer, Lisa G; Torchia, Beth S; Ellison, Jay W; Rosenfeld, Jill A

    2014-01-01

    A syndrome associated with 19q13.11 microdeletions has been proposed based on seven previous cases that displayed developmental delay, intellectual disability, speech disturbances, pre- and post-natal growth retardation, microcephaly, ectodermal dysplasia, and genital malformations in males. A 324-kb critical region was previously identified as the smallest region of overlap (SRO) for this syndrome. To further characterize this microdeletion syndrome, we present five patients with deletions within 19q12q13.12 identified using a whole-genome oligonucleotide microarray. Patients 1 and 2 possess deletions overlapping the SRO, and Patients 3-5 have deletions proximal to the SRO. Patients 1 and 2 share significant phenotypic overlap with previously reported cases, providing further definition of the 19q13.11 microdeletion syndrome phenotype, including the first presentation of ectrodactyly in the syndrome. Patients 3-5, whose features include developmental delay, growth retardation, and feeding problems, support the presence of dosage-sensitive genes outside the SRO that may contribute to the abnormal phenotypes observed in this syndrome. Multiple genotype-phenotype correlations outside the SRO are explored, including further validation of the deletion of WTIP as a candidate for male hypospadias observed in this syndrome. We postulate that unique patient-specific deletions within 19q12q13.1 may explain the phenotypic variability observed in this emerging contiguous gene deletion syndrome. PMID:24243649

  5. Condition and Phenotype-Dependent Dispersal in a Damselfly, Calopteryx splendens

    PubMed Central

    Chaput-Bardy, Audrey; Grégoire, Arnaud; Baguette, Michel; Pagano, Alain; Secondi, Jean

    2010-01-01

    Individual dispersal decisions may be affected by the internal state of the individual and the external information of its current environment. Here we estimated the influence of dispersal on survival and investigated if individual phenotype (sex and wing length) and environmental condition (conspecific density and sex-ratio) affected dispersal decisions in the banded damselfly, Calopteryx splendens. As suspected from the literature, we showed that the proportion of dispersing individuals was higher in females than in males. We also found negative-density dependent dispersal in both sexes and influence of sex-ratio on dispersal. Individuals moved less when sex-ratio was male biased. These results are consistent with a lek mating system where males aggregate in a place and hold mating territories. Contrary to our expectations, neither dispersal nor survival was affected by wing length. Nevertheless, mean adult survival was about 8% lower in dispersing individuals than in residents. This might reflect a mortality cost due to dispersal. PMID:20502694

  6. Phenotypic plasticity in sex allocation for a simultaneously hermaphroditic coral reef fish

    NASA Astrophysics Data System (ADS)

    Hart, M. K.; Svoboda, A.; Mancilla Cortez, D.

    2011-06-01

    Phenotypic plasticity can facilitate reproductive strategies that maximize mating success in variable environments and lead to differences in sex allocation among populations. For simultaneous hermaphrodites with sperm competition, including Serranus tortugarum a small coral reef fish, proportional male allocation (testis in total gonad) is often greater where local density or mating group size is higher. We tested whether S. tortugarum reduced male allocation when transplanted from a higher density site to a lower density site. After 4 months, transplants mirrored the sex-allocation patterns of the resident population on their new reef. Transplants had significantly lower male allocation than representatives from their source population, largely as a result of reduced testis mass relative to body size.

  7. Matters of scale: positive allometry and the evolution of male dimorphisms.

    PubMed

    Tomkins, Joseph L; Kotiaho, Janne S; LeBas, Natasha R

    2005-03-01

    The developmental independence of alternative phenotypes is key to evolutionary theories of phenotypic plasticity and the origins of diversity. Male dimorphisms associated with alternative reproductive tactics are widely cited examples of such facultative expression of divergent fitness optima. Current models for the evolution of male dimorphisms invoke a size-dependent threshold at which the phenotype is reprogrammed. We use predictions derived from allometric modeling to test for the existence of reprogramming thresholds in two species of beetle, Onthophagus taurus and Onthophagus binodis, and the European earwig Forficula auricularia. We also compare the allometry of a number of morphological traits to determine whether minor males suppress their secondary sexual traits. The intercept of the horn allometry was suppressed, but there was no evidence of reprogramming of horn growth in either beetle species. There was reprogramming in the earwig. In the beetles, the horn length in all males can be explained largely in terms of exponential horn growth following an extraordinarily steep power function. The asymptote in O. taurus can be explained by exponential growth meeting the constraint of resource exhaustion. These findings question the currently held view that beetle horn dimorphisms showcase the importance of developmental independence in the evolution of diversity. PMID:15729668

  8. A method for analysis of phenotypic change for phenotypes described by high-dimensional data.

    PubMed

    Collyer, M L; Sekora, D J; Adams, D C

    2015-10-01

    The analysis of phenotypic change is important for several evolutionary biology disciplines, including phenotypic plasticity, evolutionary developmental biology, morphological evolution, physiological evolution, evolutionary ecology and behavioral evolution. It is common for researchers in these disciplines to work with multivariate phenotypic data. When phenotypic variables exceed the number of research subjects--data called 'high-dimensional data'--researchers are confronted with analytical challenges. Parametric tests that require high observation to variable ratios present a paradox for researchers, as eliminating variables potentially reduces effect sizes for comparative analyses, yet test statistics require more observations than variables. This problem is exacerbated with data that describe 'multidimensional' phenotypes, whereby a description of phenotype requires high-dimensional data. For example, landmark-based geometric morphometric data use the Cartesian coordinates of (potentially) many anatomical landmarks to describe organismal shape. Collectively such shape variables describe organism shape, although the analysis of each variable, independently, offers little benefit for addressing biological questions. Here we present a nonparametric method of evaluating effect size that is not constrained by the number of phenotypic variables, and motivate its use with example analyses of phenotypic change using geometric morphometric data. Our examples contrast different characterizations of body shape for a desert fish species, associated with measuring and comparing sexual dimorphism between two populations. We demonstrate that using more phenotypic variables can increase effect sizes, and allow for stronger inferences. PMID:25204302

  9. A New Mutation Causing Male-Male Courtship in Drosophila 

    E-print Network

    Hanlon, Stacey LaRae

    2007-09-17

    , we can get closer to understanding the foundation of our behavior. Preliminary Work In an effort to disrupt nonessential genes controlling physiological functions, an ethyl methanesulfanate (EMS) mutagenic screen created strains of mutagenized... was responsible for it. One possibility is that during the mutagenic screen, a multiple mutation event occurred on the second chromosome to produce two mutations on one chromosome?one responsible for the sterility and the other causing the male-male courtship...

  10. Body size phenotypes are heritable and mediate fecundity but not fitness in the lepidopteran frugivore Cydia pomonella

    NASA Astrophysics Data System (ADS)

    Davis, Thomas Seth; Landolt, Peter J.

    2012-06-01

    The inheritance and functional roles of quantitative traits are central concerns of evolutionary ecology. We report two sets of experiments that investigated the heritability and reproductive consequences of body size phenotypes in a globally distributed lepidopteran frugivore, Cydia pomonella (L.). In our first set of experiments, we tested the hypotheses that (1) body size is heritable and (2) parental body size mediates egg production and offspring survival. Midparent-offspring regression analyses revealed that body mass is highly heritable for females and moderately heritable for males. The contribution of fathers to estimates of additive genetic variance was slightly greater than for mothers. Egg production increased with mean parental size, but offspring survival rates were equivalent. Based on this result, we tested two additional hypotheses in a second set of experiments: (3) male size moderates female egg production and egg fertility and (4) egg production, egg fertility, and offspring survival rate are influenced by female mating opportunities. Females paired with large males produced more eggs and a higher proportion of fertile eggs than females paired with small males. Females with multiple mating opportunities produced more fertile eggs than females paired with a single male. However, egg production and offspring survival rates were unaffected by the number of mating opportunities. Our experiments demonstrate that body mass is heritable in C. pomonella and that size phenotypes may mediate fecundity but not fitness. We conclude that male size can influence egg production and fertility, but female mate choice also plays a role in determining egg fertility.

  11. Metastable configurations of a finite-size chain of classical spins within the one-dimensional chiral XY-model

    NASA Astrophysics Data System (ADS)

    Popov, Alexander P.; Gloria Pini, Maria; Rettori, Angelo

    2016-03-01

    The metastable states of a finite-size chain of N classical spins described by the chiral XY-model on a discrete one-dimensional lattice are calculated by means of a general theoretical method recently developed by one of us. This method allows one to determine all the possible equilibrium magnetic states in an accurate and systematic way. The ground state of a chain consisting of N classical XY spins is calculated in the presence of (i) a symmetric ferromagnetic exchange interaction, favoring parallel alignment of nearest neighbor spins, (ii) a uniaxial anisotropy, favoring a given direction in the film plane, and (iii) an antisymmetric Dzyaloshinskii-Moriya interaction (DMI), favoring perpendicular alignment of nearest neighbor spins. In addition to the ground state with a non-uniform helical spin arrangement, which originates from the energy competition in the finite-size chain with open boundary conditions, we have found a considerable number of higher-energy equilibrium states. In the investigated case of a chain with N=10 spins and a DMI much smaller than the in-plane uniaxial anisotropy, it turns out that a metastable (unstable) state of the finite chain is characterized by a configuration where none (at least one) of the inner spins is nearly parallel to the hard axis. The role of the DMI is to establish a unique rotational sense for the helical ground state. Moreover, the number of both metastable and unstable equilibrium states is doubled with respect to the case of zero DMI. This produces modifications in the Peierls-Nabarro potential encountered by a domain wall during its displacement along the discrete spin chain.

  12. Dissociation of the X chromosome from the synaptonemal complex in the XY body of the rodent Galea musteloides.

    PubMed

    Sciurano, Roberta B; Rahn, I Mónica; Cavicchia, Juan C; Solari, Alberto J

    2013-12-01

    The XY body from spermatocytes of the rodent Galea musteloides shows progressive changes of the synaptonemal complex (SC) axes and the X-chromatin during pachynema. There is a gross thickening of the X-axis and the formation of a large X chromosome loop at mid and late pachytene stages. The SC proteins synaptonemal complex protein 3 (SYCP3), synaptonemal complex protein 1, and synaptonemal complex central element protein 3 and the proteins breast cancer 1, MutL homolog 1 (MLH1), and radiation-repair 51 (related to meiotic processes), the cohesin structural maintenance of chromosome 3, the centromeric protein (with CREST antibody), and the silenced chromatin (with phosphorylated (139ph) H2A histone family, member X (?-H2AX) antibody) were analyzed in this XY body. The thick X-axis, including the interstitial loop, becomes formed by four to six laminae showing a cross-striation with a periodicity of about 20 nm. The whole length of the gross X-axis shows no significant changes during pachynema, but the interstitial chromatin of the X chromosome and the X centromere are included in the large loop, and it becomes separated from the SC. A conventional SC formed by the Y-axis, a central region and a thin lateral element originally corresponding to the X-axis, remains undisturbed up to the end of pachynema. A single MLH1 focus develops either at the distal or the proximal region of the loop end attached to the conventional SC. The chromatin surrounding the thickened axis is labeled with ?-H2AX. It is shown that most of the SYCP3 protein associated with the X chromosome loop is not involved in the SC maintenance, but it is located with the cohesin axis separated from the SC proper. PMID:24043547

  13. Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold

    PubMed Central

    Chen, Yen-Shan; Racca, Joseph D.; Phillips, Nelson B.; Weiss, Michael A.

    2013-01-01

    Human testis determination is initiated by SRY (sex determining region on Y chromosome). Mutations in SRY cause gonadal dysgenesis with female somatic phenotype. Two subtle variants (V60L and I90M in the high-mobility group box) define inherited alleles shared by an XY sterile daughter and fertile father. Whereas specific DNA binding and bending are unaffected in a rat embryonic pre-Sertoli cell line, the variants exhibited selective defects in nucleocytoplasmic shuttling due to impaired nuclear import (V60L; mediated by Exportin-4) or export (I90M; mediated by chromosome region maintenance 1). Decreased shuttling limits nuclear accumulation of phosphorylated (activated) SRY, in turn reducing occupancy of DNA sites regulating Sertoli-cell differentiation [the testis-specific SRY-box 9 (Sox9) enhancer]. Despite distinct patterns of biochemical and cell-biological perturbations, V60L and I90M each attenuated Sox9 expression in transient transfection assays by twofold. Such attenuation was also observed in studies of V60A, a clinical variant associated with ovotestes and hence ambiguity between divergent cell fates. This shared twofold threshold is reminiscent of autosomal syndromes of transcription-factor haploinsufficiency, including XY sex reversal associated with mutations in SOX9. Our results demonstrate that nucleocytoplasmic shuttling of SRY is necessary for robust initiation of testicular development. Although also characteristic of ungulate orthologs, such shuttling is not conserved among rodents wherein impaired nuclear export of the high-mobility group box and import-dependent phosphorylation are compensated by a microsatellite-associated transcriptional activation domain. Human sex reversal due to subtle defects in the nucleocytoplasmic shuttling of SRY suggests that its transcriptional activity lies near the edge of developmental ambiguity. PMID:24003159

  14. Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.

    PubMed

    Chen, Yen-Shan; Racca, Joseph D; Phillips, Nelson B; Weiss, Michael A

    2013-09-17

    Human testis determination is initiated by SRY (sex determining region on Y chromosome). Mutations in SRY cause gonadal dysgenesis with female somatic phenotype. Two subtle variants (V60L and I90M in the high-mobility group box) define inherited alleles shared by an XY sterile daughter and fertile father. Whereas specific DNA binding and bending are unaffected in a rat embryonic pre-Sertoli cell line, the variants exhibited selective defects in nucleocytoplasmic shuttling due to impaired nuclear import (V60L; mediated by Exportin-4) or export (I90M; mediated by chromosome region maintenance 1). Decreased shuttling limits nuclear accumulation of phosphorylated (activated) SRY, in turn reducing occupancy of DNA sites regulating Sertoli-cell differentiation [the testis-specific SRY-box 9 (Sox9) enhancer]. Despite distinct patterns of biochemical and cell-biological perturbations, V60L and I90M each attenuated Sox9 expression in transient transfection assays by twofold. Such attenuation was also observed in studies of V60A, a clinical variant associated with ovotestes and hence ambiguity between divergent cell fates. This shared twofold threshold is reminiscent of autosomal syndromes of transcription-factor haploinsufficiency, including XY sex reversal associated with mutations in SOX9. Our results demonstrate that nucleocytoplasmic shuttling of SRY is necessary for robust initiation of testicular development. Although also characteristic of ungulate orthologs, such shuttling is not conserved among rodents wherein impaired nuclear export of the high-mobility group box and import-dependent phosphorylation are compensated by a microsatellite-associated transcriptional activation domain. Human sex reversal due to subtle defects in the nucleocytoplasmic shuttling of SRY suggests that its transcriptional activity lies near the edge of developmental ambiguity. PMID:24003159

  15. Takashi Ikegami Neutral phenotypes as network keystone species

    E-print Network

    Ikegami, Takashi

    REVIEW Takashi Ikegami Neutral phenotypes as network keystone species Received: 25 April 2004 of abstract ecosystems, phenotypes were classified to show that neutral pheno- types, or slowly reproducing phenotypes, are candidates for keystone species. I show that the removal of neutral phenotypes breaks up

  16. Phenotypic Diversity in Caucasian Adults with Moderate to Severe Class II Malocclusion

    PubMed Central

    Moreno Uribe, Lina M.; Howe, Sara C.; Kummet, Colleen; Vela, Kaci C.; Dawson, Deborah V.; Southard, Thomas E.

    2014-01-01

    INTRODUCTION Class II malocclusion affects about 15 % of the US population and is characterized by a convex profile and occlusion disharmonies. The specific etiological mechanisms resulting in the range of Class II dento-skeletal combinations observed is not yet understood. Most studies describing the class II phenotypic diversity have utilized moderate sample sizes or have focused on younger individuals that later in life may outgrow their class II discrepancies; such a focus may also preclude the visualization of adult class II features. The majority have utilized simple correlation methods resulting in phenotypes that may not be generalizable to different samples and thus may not be suitable for studies of malocclusion etiology. The purpose of this study is to address these knowledge gaps by capturing the maximum phenotypic variation present in a large Caucasian sample of class II individuals selected with strict eligibility criteria and rigorously standardized multivariate reduction analyses. METHODS Sixty-three lateral cephalometric variables were measured from pre-treatment records of 309 Class II Caucasian adults (82 males, 227 females; ages 16–60 years). Principal component analysis (PCA) and cluster analysis were used to generate comprehensive phenotypes in an effort to identify the most homogeneous groups of individuals reducing heterogeneity and improving the power of future malocclusion etiology studies. RESULTS PCA resulted in 7 principal components that accounted for 81% of the variation. The first three components represented variation on mandibular rotation, upper incisor angulation and mandibular length, respectively. The cluster analysis identified 5 distinct Class II phenotypes. CONCLUSIONS A comprehensive spectrum of Class II phenotypic definitions was obtained that could be generalized to other samples advancing our efforts to the identification of etiological factors underlying Class II malocclusion. PMID:24582022

  17. Phenotypic plasticity in the developmental integration of morphological trade-offs and secondary sexual trait compensation.

    PubMed

    Tomkins, Joseph L; Kotiaho, Janne S; Lebas, Natasha R

    2005-03-01

    Trait exaggeration through sexual selection will tale place alongside other changes in phenotype. Exaggerated morphology might be compensated by parallel changes in traits that support, enhance or facilitate exaggeration: 'secondary sexual trait compensation' (SSTC). Alternatively, exaggeration might be realized at the expense of other traits through morphological trade-offs. For the most part, SSTC has only been examined interspecifically. For these phenomena to be important intraspecifically, the sexual trait must be developmentally integrated with the compensatory or competing trait. We studied developmental integration in two species with different development: the holometabolous beetle Onthophagus taurus and the hemimetabolous earwig Forficula auricularia. Male-dimorphic variation in trait exaggeration was exploited to expose both trade-offs and SSTC. We found evidence for morphological trade-offs in O. taurus, but no F. auricularia, supporting the notion that trade-offs are more likely in closed developmetal systems. However, we found these trade-offs were not limited solely to traits growing close together. Developmental integration of structures involved in SSTC were detected in both species. The developmental integration of SSTC was phenotypically plastic, such that the compensation for relatively larger sexual traits was greater in the exasperated male morphs. Evidence of intraspecific SSTC demands studies of the selective, genetic and developmental architecture of phenotypic integration. PMID:15799950

  18. Phenotypic plasticity in the developmental integration of morphological trade-offs and secondary sexual trait compensation

    PubMed Central

    Tomkins, Joseph L; Kotiaho, Janne S; LeBas, Natasha R

    2005-01-01

    Trait exaggeration through sexual selection will take place alongside other changes in phenotype. Exaggerated morphology might be compensated by parallel changes in traits that support, enhance or facilitate exaggeration: ‘secondary sexual trait compensation’ (SSTC). Alternatively, exaggeration might be realized at the expense of other traits through morphological trade-offs. For the most part, SSTC has only been examined interspecifically. For these phenomena to be important intraspecifically, the sexual trait must be developmentally integrated with the compensatory or competing trait. We studied developmental integration in two species with different development: the holometabolous beetle Onthophagus taurus and the hemimetabolous earwig Forficula auricularia. Male-dimorphic variation in trait exaggeration was exploited to expose both trade-offs and SSTC. We found evidence for morphological trade-offs in O. taurus, but not F. auricularia, supporting the notion that trade-offs are more likely in closed developmental systems. However, we found these trade-offs were not limited solely to traits growing close together. Developmental integration of structures involved in SSTC were detected in both species. The developmental integration of SSTC was phenotypically plastic, such that the compensation for relatively larger sexual traits was greater in the exaggerated male morphs. Evidence of intraspecific SSTC demands studies of the selective, genetic and developmental architecture of phenotypic integration. PMID:15799950

  19. Phenotypic variability in X-linked ocular albinism: Relationship to linkage genotypes

    SciTech Connect

    Schnur, R.E. |; Wick, P.A.; Bailey, C.; Rebbeck, T.; Weleber, R.G.; Wagstaff, J.; Grix, A.W.; Pagon, R.A.; Hockey, A.; Edwards, M.J.

    1994-09-01

    One hundred nineteen individuals from 11 families with X-linked ocular albinism (OA1) were studied with respect to both their clinical phenotypes and their linkage genotypes. In a four-generation Australian family, two affected males and an obligatory carrier lacked cutaneous melanin macroglobules (MMGs); ocular features were identical to those of Nettleship-Falls OA1. Four other families had more unusual phenotypic features in addition to OA1. All OA1 families were genotyped at DXS16, DXS85, DXS143, STS, and DXS452 and for a CA-repeat polymorphism at the Kallmann syndrome locus (KAL). Separate two-point linkage analyses were performed for the following: group A, six families with biopsy-proved MMGs in at least one affected male; group B, four families whose biopsy status was not known; and group C, OA-9 only (16 samples), the family without MMGs. At the set of loci closest to OA1, there is no clear evidence in our data set for locus heterogeneity between groups A and C or among the four other families with complex phenotypes. Combined multipoint analysis (LINKMAP) in the 11 families and analysis of individual recombination events confirms that the major locus for OA1 resides within the DXS85-DXS143 interval. The authors suggest that more detailed clinical evaluations of OA1 individuals and families should be performed for future correlation with specific mutations in candidate OA1 genes. 29 refs., 5 figs., 4 tabs.

  20. Perinatal and juvenile social environments interact to shape cognitive behaviour and neural phenotype in prairie voles.

    PubMed

    Prounis, George S; Foley, Lauren; Rehman, Asad; Ophir, Alexander G

    2015-11-22

    Social environments experienced at different developmental stages profoundly shape adult behavioural and neural phenotypes, and may have important interactive effects. We asked if social experience before and after weaning influenced adult social cognition in male prairie voles. Animals were raised either with or without fathers and then either housed singly or in sibling pairs. Males that were socially deprived before (fatherless) and after (singly housed) weaning did not demonstrate social recognition or dissociate spatial from social information. We also examined oxytocin and vasopressin receptors (OTR and V1aR) in areas of the forebrain associated with social behaviour and memory. Pre- and post-wean experience differentially altered receptor expression in several structures. Of note, OTR in the lateral septum-an area in which oxytocin inhibits social recognition-was greatest in animals that did not clearly demonstrate social recognition. The combination of absentee fathers on V1aR in the retrosplenial cortex and single housing on OTR in the septohippocampal nucleus produced a unique phenotype previously found to be associated with poor reproductive success in nature. We demonstrate that interactive effects of early life experiences throughout development have tremendous influence over brain-behaviour phenotype and can buffer potentially negative outcomes due to social deprivation. PMID:26609086

  1. First insights into the genotype–phenotype map of phenotypic stability in rye

    PubMed Central

    Wang, Yu; Mette, Michael Florian; Miedaner, Thomas; Wilde, Peer; Reif, Jochen C.; Zhao, Yusheng

    2015-01-01

    Improving phenotypic stability of crops is pivotal for coping with the detrimental impacts of climate change. The goal of this study was to gain first insights into the genetic architecture of phenotypic stability in cereals. To this end, we determined grain yield, thousand kernel weight, test weight, falling number, and both protein and soluble pentosan content for two large bi-parental rye populations connected through one common parent and grown in multi-environmental field trials involving more than 15 000 yield plots. Based on these extensive phenotypic data, we calculated parameters for static and dynamic phenotypic stability of the different traits and applied linkage mapping using whole-genome molecular marker profiles. While we observed an absence of large-effect quantitative trait loci (QTLs) underlying yield stability, large and stable QTLs were found for phenotypic stability of test weight, soluble pentosan content, and falling number. Applying genome-wide selection, which in contrast to marker-assisted selection also takes into account loci with small-effect sizes, considerably increased the accuracy of prediction of phenotypic stability for all traits by exploiting both genetic relatedness and linkage between single-nucleotide polymorphisms and QTLs. We conclude that breeding for crop phenotypic stability can be improved in related populations using genomic selection approaches established upon extensive phenotypic data. PMID:25873667

  2. Comprehensive Detection of Genes Causing a Phenotype Using Phenotype Sequencing and Pathway Analysis

    PubMed Central

    Harper, Marc; Gronenberg, Luisa; Liao, James; Lee, Christopher

    2014-01-01

    Discovering all the genetic causes of a phenotype is an important goal in functional genomics. We combine an experimental design for detecting independent genetic causes of a phenotype with a high-throughput sequencing analysis that maximizes sensitivity for comprehensively identifying them. Testing this approach on a set of 24 mutant strains generated for a metabolic phenotype with many known genetic causes, we show that this pathway-based phenotype sequencing analysis greatly improves sensitivity of detection compared with previous methods, and reveals a wide range of pathways that can cause this phenotype. We demonstrate our approach on a metabolic re-engineering phenotype, the PEP/OAA metabolic node in E. coli, which is crucial to a substantial number of metabolic pathways and under renewed interest for biofuel research. Out of 2157 mutations in these strains, pathway-phenoseq discriminated just five gene groups (12 genes) as statistically significant causes of the phenotype. Experimentally, these five gene groups, and the next two high-scoring pathway-phenoseq groups, either have a clear connection to the PEP metabolite level or offer an alternative path of producing oxaloacetate (OAA), and thus clearly explain the phenotype. These high-scoring gene groups also show strong evidence of positive selection pressure, compared with strictly neutral selection in the rest of the genome. PMID:24586303

  3. Histopathology reveals correlative and unique phenotypes in a high-throughput mouse phenotyping screen

    PubMed Central

    Adissu, Hibret A.; Estabel, Jeanne; Sunter, David; Tuck, Elizabeth; Hooks, Yvette; Carragher, Damian M.; Clarke, Kay; Karp, Natasha A.; Project, Sanger Mouse Genetics; Newbigging, Susan; Jones, Nora; Morikawa, Lily; White, Jacqueline K.; McKerlie, Colin

    2014-01-01

    The Mouse Genetics Project (MGP) at the Wellcome Trust Sanger Institute aims to generate and phenotype over 800 genetically modified mouse lines over the next 5 years to gain a better understanding of mammalian gene function and provide an invaluable resource to the scientific community for follow-up studies. Phenotyping includes the generation of a standardized biobank of paraffin-embedded tissues for each mouse line, but histopathology is not routinely performed. In collaboration with the Pathology Core of the Centre for Modeling Human Disease (CMHD) we report the utility of histopathology in a high-throughput primary phenotyping screen. Histopathology was assessed in an unbiased selection of 50 mouse lines with (n=30) or without (n=20) clinical phenotypes detected by the standard MGP primary phenotyping screen. Our findings revealed that histopathology added correlating morphological data in 19 of 30 lines (63.3%) in which the primary screen detected a phenotype. In addition, seven of the 50 lines (14%) presented significant histopathology findings that were not associated with or predicted by the standard primary screen. Three of these seven lines had no clinical phenotype detected by the standard primary screen. Incidental and strain-associated background lesions were present in all mutant lines with good concordance to wild-type controls. These findings demonstrate the complementary and unique contribution of histopathology to high-throughput primary phenotyping of mutant mice. PMID:24652767

  4. The overshoot and phenotypic equilibrium in characterizing cancer dynamics of reversible phenotypic plasticity.

    PubMed

    Chen, Xiufang; Wang, Yue; Feng, Tianquan; Yi, Ming; Zhang, Xingan; Zhou, Da

    2016-02-01

    The paradigm of phenotypic plasticity indicates reversible relations of different cancer cell phenotypes, which extends the cellular hierarchy proposed by the classical cancer stem cell (CSC) theory. Since it is still questionable if the phenotypic plasticity is a crucial improvement to the hierarchical model or just a minor extension to it, it is worthwhile to explore the dynamic behavior characterizing the reversible phenotypic plasticity. In this study we compare the hierarchical model and the reversible model in predicting the cell-state dynamics observed in biological experiments. Our results show that the hierarchical model shows significant disadvantages over the reversible model in describing both long-term stability (phenotypic equilibrium) and short-term transient dynamics (overshoot) in cancer cell populations. In a very specific case in which the total growth of population due to each cell type is identical, the hierarchical model predicts neither phenotypic equilibrium nor overshoot, whereas the reversible model succeeds in predicting both of them. Even though the performance of the hierarchical model can be improved by relaxing the specific assumption, its prediction to the phenotypic equilibrium strongly depends on a precondition that may be unrealistic in biological experiments. Moreover, it still does not show as rich dynamics as the reversible model in capturing the overshoots of both CSCs and non-CSCs. By comparison, it is more likely for the reversible model to correctly predict the stability of the phenotypic mixture and various types of overshoot behavior. PMID:26626088

  5. Vascular smooth muscle phenotypic diversity and function

    PubMed Central

    2010-01-01

    The control of force production in vascular smooth muscle is critical to the normal regulation of blood flow and pressure, and altered regulation is common to diseases such as hypertension, heart failure, and ischemia. A great deal has been learned about imbalances in vasoconstrictor and vasodilator signals, e.g., angiotensin, endothelin, norepinephrine, and nitric oxide, that regulate vascular tone in normal and disease contexts. In contrast there has been limited study of how the phenotypic state of the vascular smooth muscle cell may influence the contractile response to these signaling pathways dependent upon the developmental, tissue-specific (vascular bed) or disease context. Smooth, skeletal, and cardiac muscle lineages are traditionally classified into fast or slow sublineages based on rates of contraction and relaxation, recognizing that this simple dichotomy vastly underrepresents muscle phenotypic diversity. A great deal has been learned about developmental specification of the striated muscle sublineages and their phenotypic interconversions in the mature animal under the control of mechanical load, neural input, and hormones. In contrast there has been relatively limited study of smooth muscle contractile phenotypic diversity. This is surprising given the number of diseases in which smooth muscle contractile dysfunction plays a key role. This review focuses on smooth muscle contractile phenotypic diversity in the vascular system, how it is generated, and how it may determine vascular function in developmental and disease contexts. PMID:20736412

  6. Haptoglobin Phenotype, Angiogenic Factors and Preeclampsia Risk

    PubMed Central

    WEISSGERBER, Tracey L.; ROBERTS, James M.; JEYABALAN, Arun; POWERS, Robert W.; LEE, MinJae; DATWYLER, Saul A; GANDLEY, Robin E.

    2012-01-01

    Objectives To determine whether haptolgobin phenotype is related to preeclampsia risk, or to plasma concentrations of soluble endoglin (sEng), soluble fms-like tyrosine kinase 1 (sFlt-1) and placental growth factor (PlGF). Study Design Haptoglobin phenotype was retrospectively determined in primiparous women with uncomplicated pregnancies (n=309), gestational hypertension (n=215) and preeclampsia (n=249). Phenotype was assessed by peroxidase staining following native polyacrylamide gel electrophoresis of hemoglobin-supplemented serum. Results Compared to haptoglobin 1-1, haptoglobin 2-1 was associated with a significantly increased risk of preeclampsia (odds ratio (95% confidence interval) 2.11 (1.07, 4.18)) and term preeclampsia (2.45 (1.07, 5.83)) in Caucasian women. Haptoglobin phenotype was not associated with preeclampsia risk in African Americans. Preeclamptic women had higher plasma sEng and sFlt-1, and lower PlGF, than controls. sEng, sFlt-1 and PlGF did not differ among women of different haptoglobin phenotypes. Conclusion Haptoglobin 2-1 is associated with higher preeclampsia risk in primiparous Caucasian women. PMID:22340942

  7. [Inheritance of reversions to male fertility in male-sterile sorghum hybrids with 9E cytoplasm male sterility induced by environmental conditions].

    PubMed

    Elkonin, L A; Gerashchenkov, G A; Domanina, I V; Rozhnova, N A

    2015-03-01

    Heritable phenotypic alterations occurring during plant ontogenesis under the influence of environmental factors are among the most intriguing genetic phenomena. It was found that male-sterile sorghum hybrids in the 9E cytoplasm from the F1 and F2 generations, which were obtained by crossing CMS lines with different fertile lines grown in field conditions, were transferred to greenhouse produce fertile tillers. Lines created by the self-pollination of revertant tillers exhibit complete male fertility upon cultivation under various environments (in the field, Tdry plot,(y) Tirrigated plot(y)). In a number of test-crosses of revertants to CMS lines in the 9E cytoplasm, restoration of male fertility in F1 hybrids was found, indicating that revertants possess functional fertility-restoring genes. A high positive correlation was found between the fertility level of the test-cross hybrids and the hydrothermal coefficient (the ratio of the sum of precipitation to the sum of temperatures) during the booting stage and pollen maturation (r = 0.75...0.91; P<0.01), suggesting that a high level of plant water availability is needed for the expression of fertility-restoring genes of revertants. These data show that the fertility-restoring genes for the 9E cytoplasm are dominant in conditions of high water availability and recessive in drought conditions; reversions to male fertility are due to up-regulation of fertility-restoring genes by a high level of water availability. Comparative MSAP-analysis of DNA of male-sterile and male-fertile test-cross hybrids using HpaII/MspI restrictases and primers to polygalacturonase gene ADPG2, which is required for cell separation during reproductive development, and gene MYB46, the transcription factor regulating secondary wall biosynthesis, revealed differences in the number and the length of amplified fragments. Changes in the methylation of these genes in conditions of drought stress are apparently the reason for male sterility of sorghum hybrids in the 9E cytoplasm. These data demonstrate that methylation of nuclear genes in sterility-inducing cytoplasm may be one of mechanisms causing the CMS phenomenon. PMID:26027370

  8. Efficacy of 17-a-Methyltestosterone for Expression of Male Secondary Sexual Characteristics in the Green Swordtail

    E-print Network

    Hill, Jeffrey E.

    in Florida are indistinguishable by sex until approximately 3­9 weeks of age, when the anal fin begins the production of higher-value phenotypic male green swordtails and enhance profitability for aquaculturists. Sex.g., social sex-switching in the protandrous clownfishes Amphiprion spp.); xenobiotics; gonochoristic versus

  9. Significant Expression Levels of Transgenic PPP1CC2 in Testis and Sperm Are Required to Overcome the Male

    E-print Network

    Significant Expression Levels of Transgenic PPP1CC2 in Testis and Sperm Are Required to Overcome and Sperm Are Required to Overcome the Male Infertility Phenotype of Ppp1cc Null Mice. PLoS ONE 7(10): e phosphorylation patterns mediate many of the processes of sperm development in the testis, so do they control

  10. Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.

    PubMed Central

    Reddy, K S; Sulcova, V; Siassi, B

    1996-01-01

    A mother with apparently balanced translocation between chromosomes 4 and 22 gave birth to two children (sib 1 and twin A) with 45,XX,der(4)t(4;22) (p16.3;q11.2)mat,-22 and 45,XY,der(4)t(4; 22(p16.3;q11.2)mat,-22 karyotypes. The mother was a slow learner and required special education. The imbalance in the sibs arose through a 3:1 malsegregation in the mother. The net result was deletions 4p16.3pter and 22q11.2pter. Deletion 4p is associated with Wolf-Hirschhorn syndrome (WHS). The 22q11.2 microdeletion is associated with a wide range of overlapping phenotypes including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal facial abnormality, and sporadic or familial cardiac defect. Fluorescence in situ hybridisation (FISH) was performed. Cosmid probes D4S96, which maps to 4p16.3, and D22S75, which maps to 22q11.2, were used. In the mother, the translocation breakpoints were proximal to D4S96 on chromosome 4 and distal D22S75 on chromosome 22. The two sibs had deletions of a D4S96 and a D22S75 probe loci. Sib 1, a 2 1/2 year old girl, has multiple congenital abnormalities and profound developmental delay. The craniofacial features were generally of WHS. Hypoplasia of the thymus hypocalcaemia, and seizures in early infancy, which are clinical features of DGS, were also observed. Twin A was one of a pair of dizygotic twins. He had multiple congenital abnormalities and died soon after birth. Images PMID:8933340

  11. Vocalizations convey sex, seasonal phenotype, and aggression in a seasonal mammal.

    PubMed

    Rendon, Nikki M; Keesom, Sarah M; Amadi, Chima; Hurley, Laura M; Demas, Gregory E

    2015-12-01

    Seasonal variation in social behavior is often accompanied by seasonal variation in communication. In mammals, how seasonal environmental cues influence aggressive vocalizations remains underexplored. Photoperiod is the primary cue coordinating seasonal responses in most temperate zone animals, including Siberian hamsters (Phodopus sungorus), a species that undergoes reproductive inhibition and increased aggression in winter. During same-sex aggressive encounters, hamsters emit both broadband calls (BBCs) and ultrasonic vocalizations (USVs) that indicate aggression and the vocalizer's sex, respectively; however, it is not known whether these rodents adjust specific elements of their vocal repertoire to reflect their photoperiod-induced seasonal phenotypes. To address this, we recorded vocalizations emitted during dyadic interactions between male or female pairs of hamsters housed in long or short photoperiods and measured serum testosterone levels. USV emission rate remained stable across photoperiods, but proportional use of USV subtypes varied in novel ways: 'jump' USVs were sensitive to seasonal phenotype, but not the vocalizer's sex, whereas 'plain' USVs were sensitive only to the sex of the vocalizer. BBC emission rate varied with seasonal phenotype; short-day non-reproductive hamsters produced more BBCs and demonstrated increased aggression compared with reproductive hamsters. Testosterone, however, was not related to vocalization rates. Collectively, these findings demonstrate that changes in the vocal repertoire of Siberian hamsters reflect sex, aggression, and seasonal phenotype, suggesting that both BBCs and USVs are important signals used during same-sex social encounters. PMID:26386405

  12. Integrating molecular, phenotypic and environmental data to elucidate patterns of crocodile hybridization in Belize.

    PubMed

    Hekkala, Evon R; Platt, Steven G; Thorbjarnarson, John B; Rainwater, Thomas R; Tessler, Michael; Cunningham, Seth W; Twomey, Christopher; Amato, George

    2015-09-01

    The genus Crocodylus comprises 12 currently recognized species, many of which can be difficult to differentiate phenotypically. Interspecific hybridization among crocodiles is known to occur in captivity and has been documented between some species in the wild. The identification of hybrid individuals is of importance for management and monitoring of crocodilians, many of which are Convention on International Trade in Endangered Species (CITES) listed. In this study, both mitochondrial and nuclear DNA markers were evaluated for their use in confirming a suspected hybrid zone between American crocodile (Crocodylus acutus) and Morelet's crocodile (Crocodylus moreletii) populations in southern Belize where individuals and nests exhibiting atypical phenotypic features had previously been observed. Patterns observed in both phenotypic and molecular data indicate possible behavioural and ecological characteristics associated with hybridization events. The results of the combined analyses found that the majority of suspected hybrid samples represent crosses between female C. acutus and male C. moreletii. Phenotypic data could statistically identify hybrids, although morphological overlap between hybrids and C. moreletii reduced reliability of identification based solely on field characters. Ecologically, C. acutus was exclusively found in saline waters, whereas hybrids and C. moreletii were largely absent in these conditions. A hypothesized correlation between unidirectional hybridization and destruction of C. acutus breeding habitats warrants additional research. PMID:26473062

  13. Genetic and Environmental Influences on Obesity-Related Phenotypes in Chinese Twins Reared Apart and Together.

    PubMed

    Zhou, Bin; Gao, Wenjing; Lv, Jun; Yu, Canqing; Wang, Shengfeng; Liao, Chunxiao; Pang, Zengchang; Cong, Liming; Dong, Zhong; Wu, Fan; Wang, Hua; Wu, Xianping; Jiang, Guohong; Wang, Xiaojie; Wang, Binyou; Cao, Weihua; Li, Liming

    2015-07-01

    The relative importance of genetic and environmental influences on obesity-related phenotypes remains unclear, and few studies have targeted the Chinese population. Here, we used Chinese twins reared apart and together to explore genetic and environmental influences on body mass index (BMI), waist circumference (WC) and waist-height ratio (WHtR), further to differentiate phenotype heritability between different age groups and genders separately and to differentiate influences of rearing environment and correlated environment. Phenotype heritability was calculated using the structural equation model in 11,401 twin pairs aged 25-85 years. BMI (0.70, 95 % confidence interval (CI) 0.66-0.74) of the total population was highly heritable, while WC (0.53, 95 %CI 0.50-0.57) and WHtR (0.48, 95 %CI 0.45-0.51) were moderately heritable. Age and gender stratified analyses found higher heritability in the younger group and males than the older group and females. The correlated environment had a greater influence on the phenotypes than the rearing environment, especially on WC and WHtR, indicating that more correlated environment actions should be taken to prevent the rising trend of abdominal obesity. PMID:25762237

  14. Clinical COPD phenotypes: a novel approach using principal component and cluster analyses.

    PubMed

    Burgel, P-R; Paillasseur, J-L; Caillaud, D; Tillie-Leblond, I; Chanez, P; Escamilla, R; Court-Fortune, I; Perez, T; Carré, P; Roche, N

    2010-09-01

    Classification of chronic obstructive pulmonary disease (COPD) is usually based on the severity of airflow limitation, which may not reflect phenotypic heterogeneity. Here, we sought to identify COPD phenotypes using multiple clinical variables. COPD subjects recruited in a French multicentre cohort were characterised using a standardised process. Principal component analysis (PCA) was performed using eight variables selected for their relevance to COPD: age, cumulative smoking, forced expiratory volume in 1 s (FEV(1)) (% predicted), body mass index, exacerbations, dyspnoea (modified Medical Research Council scale), health status (St George's Respiratory Questionnaire) and depressive symptoms (hospital anxiety and depression scale). Patient classification was performed using cluster analysis based on PCA-transformed data. 322 COPD subjects were analysed: 77% were male; median (interquartile range) age was 65.0 (58.0-73.0) yrs; FEV(1) was 48.9 (34.1-66.3)% pred; and 21, 135, 107 and 59 subjects were classified in Global Initiative for Chronic Obstructive Lung Disease (GOLD) stages 1, 2, 3 and 4, respectively. PCA showed that three independent components accounted for 61% of variance. PCA-based cluster analysis resulted in the classification of subjects into four clinical phenotypes that could not be identified using GOLD classification. Importantly, subjects with comparable airflow limitation (FEV(1)) belonged to different phenotypes and had marked differences in age, symptoms, comorbidities and predicted mortality. These analyses underscore the need for novel multidimensional COPD classification for improving patient care and quality of clinical trials. PMID:20075045

  15. Integrating molecular, phenotypic and environmental data to elucidate patterns of crocodile hybridization in Belize

    PubMed Central

    Hekkala, Evon R.; Platt, Steven G.; Thorbjarnarson, John B.; Rainwater, Thomas R.; Tessler, Michael; Cunningham, Seth W.; Twomey, Christopher; Amato, George

    2015-01-01

    The genus Crocodylus comprises 12 currently recognized species, many of which can be difficult to differentiate phenotypically. Interspecific hybridization among crocodiles is known to occur in captivity and has been documented between some species in the wild. The identification of hybrid individuals is of importance for management and monitoring of crocodilians, many of which are Convention on International Trade in Endangered Species (CITES) listed. In this study, both mitochondrial and nuclear DNA markers were evaluated for their use in confirming a suspected hybrid zone between American crocodile (Crocodylus acutus) and Morelet’s crocodile (Crocodylus moreletii) populations in southern Belize where individuals and nests exhibiting atypical phenotypic features had previously been observed. Patterns observed in both phenotypic and molecular data indicate possible behavioural and ecological characteristics associated with hybridization events. The results of the combined analyses found that the majority of suspected hybrid samples represent crosses between female C. acutus and male C. moreletii. Phenotypic data could statistically identify hybrids, although morphological overlap between hybrids and C. moreletii reduced reliability of identification based solely on field characters. Ecologically, C. acutus was exclusively found in saline waters, whereas hybrids and C. moreletii were largely absent in these conditions. A hypothesized correlation between unidirectional hybridization and destruction of C. acutus breeding habitats warrants additional research. PMID:26473062

  16. Application of phenotypic microarrays to environmental microbiology

    SciTech Connect

    Borglin, sharon; Joyner, Dominique; DeAngelis, Kristen; Khudyakov, Jane; D'haeseleer, Patrik; Joachimiak, Marcin; Hazen, Terry C; Fagan, Lisa Anne

    2012-01-01

    Environmental organisms are extremely diverse and only a small fraction has been successfully cultured in the laboratory. Culture in micro wells provides a method for rapid screening of a wide variety of growth conditions and commercially available plates contain a large number of substrates, nutrient sources, and inhibitors, which can provide an assessment of the phenotype of an organism. This review describes applications of phenotype arrays to anaerobic and thermophilic microorganisms, use of the plates in stress response studies, in development of culture media for newly discovered strains, and for assessment of phenotype of environmental communities. Also discussed are considerations and challenges in data interpretation and visualization, including data normalization, statistics, and curve fitting.

  17. Edgotype: the link between genotype and phenotype

    PubMed Central

    Sahni, Nidhi; Yi, Song; Zhong, Quan; Jailkhani, Noor; Charloteaux, Benoit; Cusick, Michael E; Vidal, Marc

    2013-01-01

    Classical ‘one-gene/one-disease’ models cannot fully reconcile with the increasingly appreciated prevalence of complicated genotype-to-phenotype associations in human disease. Genes and gene products function not in isolation but as components of intricate networks of macromolecules (DNA, RNA, or proteins) and metabolites linked through biochemical or physical interactions, represented in ‘interactome’ network models as ‘nodes’ and ‘edges’, respectively. Accordingly, mechanistic understanding of human disease will require understanding of how disease-causing mutations affect systems or interactome properties. The study of “edgetics” uncovers specific loss or gain of interactions (“edges”) to interpret genotype-to-phenotype relationships. We review how distinct genetic variants lead to distinct phenotypic outcomes through edgetic perturbations in interactome networks. PMID:24287335

  18. Adenylate cyclase 5 is required for melanophore and male pattern development in the guppy (Poecilia reticulata).

    PubMed

    Kottler, Verena A; Künstner, Axel; Koch, Iris; Flötenmeyer, Matthias; Langenecker, Tobias; Hoffmann, Margarete; Sharma, Eshita; Weigel, Detlef; Dreyer, Christine

    2015-09-01

    Guppies (Poecilia reticulata) are colorful fish that have attracted the attention of pigmentation researchers for almost a century. Here, we report that the blond phenotype of the guppy is caused by a spontaneous mutation in the guppy ortholog of adenylate cyclase 5 (adcy5). Using double digest restriction site-associated DNA sequencing (ddRADseq) and quantitative trait locus (QTL) mapping, we linked the blond phenotype to a candidate region of 118 kb, in which we subsequently identified a 2-bp deletion in adcy5 that alters splicing and leads to a premature stop codon. We show that adcy5, which affects life span and melanoma growth in mouse, is required for melanophore development and formation of male orange pigmentation traits in the guppy. We find that some components of the male orange pattern are particularly sensitive to loss of Adcy5 function. Our work thus reveals a function for Adcy5 in patterning of fish color ornaments. PMID:26079969

  19. Cognitive and psychological profile of males with Becker muscular dystrophy.

    PubMed

    Young, Helen K; Barton, Belinda A; Waisbren, Susan; Portales Dale, Lourdes; Ryan, Monique M; Webster, Richard I; North, Kathryn N

    2008-02-01

    Duchenne and Becker muscular dystrophy are allelic X-linked disorders causing progressive muscle weakness in males. Duchenne muscular dystrophy is caused by absence of dystrophin in muscle and brain; boys with Duchenne muscular dystrophy have a static cognitive impairment with mean Full Scale IQ approximately 1 standard deviation below the mean. Less is known of the cognitive profile of males with Becker muscular dystrophy, which is associated with variable alterations in the amount or size of the dystrophin protein. The aim of this study was to describe the cognitive and psychological profile of males with Becker muscular dystrophy. This was a prospective cohort study. Clinical data collected included age at diagnosis and assessment, socioeconomic status, serum creatine kinase level, and site of gene deletion/mutation (by exon number). The following psychological tests were used to assess general intellectual functioning, academic achievement, incidence and nature of behavioral problems: The Wechsler Intelligence Scales, The Wide Range Achievement Test-Revised, The Developmental Test of Visual-Motor Integration, The Child Behavior Checklist, and The Conner's Parent Rating Scale. Twenty-four males were enrolled. The Wechsler Full Scale IQ was normally distributed with a mean of 95.6 (SD 23.3), which did not differ significantly from the population mean. The frequency of learning difficulties for reading was 21%, for spelling was 32%, and for arithmetic was 26%, significantly higher than the frequency in the general population. The frequency of total behavioral problems in the clinical range was 67%, and the frequency of autism was 8.3%. Patients with Becker muscular dystrophy demonstrate a less homogeneous cognitive phenotype than that seen in Duchenne muscular dystrophy. Males with Becker muscular dystrophy have a high incidence of learning difficulties. Autism and behavioral and attention problems are also more common in Becker muscular dystrophy than in the general population. PMID:18056690

  20. Relationship between endophenotype and phenotype in ADHD

    PubMed Central

    Rommelse, Nanda NJ; Altink, Marieke E; Martin, Neilson C; Buschgens, Cathelijne JM; Faraone, Stephen V; Buitelaar, Jan K; Sergeant, Joseph A; Oosterlaan, Jaap

    2008-01-01

    Background It has been hypothesized that genetic and environmental factors relate to psychiatric disorders through the effect of intermediating, vulnerability traits called endophenotypes. The study had a threefold aim: to examine the predictive validity of an endophenotypic construct for the ADHD diagnosis, to test whether the magnitude of group differences at the endophenotypic and phenotypic level is comparable, and to investigate whether four factors (gender, age, IQ, rater bias) have an effect (moderation or mediation) on the relation between endophenotype and phenotype. Methods Ten neurocognitive tasks were administered to 143 children with ADHD, 68 non-affected siblings, and 120 control children (first-borns) and 132 children with ADHD, 78 non-affected siblings, and 113 controls (second-borns) (5 – 19 years). The task measures have been investigated previously for their endophenotypic viability and were combined to one component which was labeled 'the endophenotypic construct': one measure representative of endophenotypic functioning across several domains of functioning. Results The endophenotypic construct classified children with moderate accuracy (about 50% for each of the three groups). Non-affected children differed as much from controls at the endophenotypic as at the phenotypic level, but affected children displayed a more severe phenotype than endophenotype. Although a potentially moderating effect (age) and several mediating effects (gender, age, IQ) were found affecting the relation between endophenotypic construct and phenotype, none of the effects studied could account for the finding that affected children had a more severe phenotype than endophenotype. Conclusion Endophenotypic functioning is moderately predictive of the ADHD diagnosis, though findings suggest substantial overlap exists between endophenotypic functioning in the groups of affected children, non-affected siblings, and controls. Results suggest other factors may be crucial and aggravate the ADHD symptoms in affected children. PMID:18234079

  1. Phenotypic approaches to drought in cassava: review

    PubMed Central

    Okogbenin, Emmanuel; Setter, Tim L.; Ferguson, Morag; Mutegi, Rose; Ceballos, Hernan; Olasanmi, Bunmi; Fregene, Martin

    2012-01-01

    Cassava is an important crop in Africa, Asia, Latin America, and the Caribbean. Cassava can be produced adequately in drought conditions making it the ideal food security crop in marginal environments. Although cassava can tolerate drought stress, it can be genetically improved to enhance productivity in such environments. Drought adaptation studies in over three decades in cassava have identified relevant mechanisms which have been explored in conventional breeding. Drought is a quantitative trait and its multigenic nature makes it very challenging to effectively manipulate and combine genes in breeding for rapid genetic gain and selection process. Cassava has a long growth cycle of 12–18 months which invariably contributes to a long breeding scheme for the crop. Modern breeding using advances in genomics and improved genotyping, is facilitating the dissection and genetic analysis of complex traits including drought tolerance, thus helping to better elucidate and understand the genetic basis of such traits. A beneficial goal of new innovative breeding strategies is to shorten the breeding cycle using minimized, efficient or fast phenotyping protocols. While high throughput genotyping have been achieved, this is rarely the case for phenotyping for drought adaptation. Some of the storage root phenotyping in cassava are often done very late in the evaluation cycle making selection process very slow. This paper highlights some modified traits suitable for early-growth phase phenotyping that may be used to reduce drought phenotyping cycle in cassava. Such modified traits can significantly complement the high throughput genotyping procedures to fast track breeding of improved drought tolerant varieties. The need for metabolite profiling, improved phenomics to take advantage of next generation sequencing technologies and high throughput phenotyping are basic steps for future direction to improve genetic gain and maximize speed for drought tolerance breeding. PMID:23717282

  2. Estimating age: college males versus convicted male child sex offenders.

    PubMed

    Marsh, Robert; Romero, Sergio; Patrick, Steven

    2013-01-01

    Two samples, male college students and convicted male child sex offenders, are compared on their abilities to accurately estimate the age group of a series of photographs of a sole female ranging in age from 11 to 29. Both samples tend to overestimate the age group of the subject photos, and no significant difference was found between college students and convicted child sex offenders in their ability to estimate the age of females. Both groups are compared demographically, and only limited differences were found. The implications are discussed in regard to theory and prevention of child sexual abuse. PMID:24283546

  3. Crystal structure investigations of ZrAs{sub x}Se{sub y} (x>y, x+y{<=}2) by single crystal neutron diffraction at 300 K, 25 K and 2.3 K

    SciTech Connect

    Niewa, Rainer; Czulucki, Andreas; Schmidt, Marcus; Auffermann, Gudrun; Cichorek, Tomasz; Meven, Martin; Pedersen, Bjoern; Steglich, Frank; Kniep, Ruediger

    2010-06-15

    Large single crystals of ZrAs{sub x}Se{sub y} (x>y, x+y{<=}2, PbFCl type of structure, space group P4/nmm) were grown by Chemical Transport. Structural details were studied by single crystal neutron diffraction techniques at various temperatures. One single crystal specimen with chemical composition ZrAs{sub 1.595(3)}Se{sub 0.393(1)} was studied at ambient temperature (R1=5.10 %, wR2=13.18 %), and a second crystal with composition ZrAs{sub 1.420(3)}Se{sub 0.560(1)} was investigated at 25 K (R1=2.70%, wR2=5.70 %) and 2.3 K (R1=2.30 %, wR2=4.70 %), respectively. The chemical compositions of the crystals under investigation were determined by wavelength dispersive X-ray spectroscopy. The quantification of trace elements was carried out by Laser Ablation-Inductively Coupled Plasma-Mass Spectrometry. According to the crystal structure refinements the crystallographic 2a site is occupied by As, together with a significant amount of vacancies. One of the 2c sites is fully occupied by As and Se (random distribution). With respect to the fractional coordinates of the atoms, the crystal structure determinations based on the data obtained at 25.0 K and 2.3 K did not show significant deviations from ambient temperature results. The temperature dependence of the displacement parameters indicates a static displacement of As on the 2a sites (located on the (0 0 1) planes) for all temperatures. No indications for any occupation of interstitial sites or the presence of vacancies on the Zr (2a) site were found. - Graphical abstract: Large single crystals of ZrAs{sub x}Se{sub y} grown by Chemical Transport to study structural details as the As-Se order scheme by single crystal neutron diffraction.

  4. Developmental and behavioural phenotype in Noonan syndrome?

    PubMed

    Sarimski, K

    2000-01-01

    Developmental and behavioural phenotype in Noonan syndrome? Noonan syndrome is characteristic by facial dysmorphology, congenital heart defects, short stature, developmental retardation and severe early feeding disorders in many cases. Data from a postal survey on physical development, feeding difficulties, developmental problems and behavioural aspects in 26 children are reported. The findings suggest developmental and behavioural difficulties in 46 per cent, but do not support the notion of a behavioural phenotype specific to Noonan syndrome. Having to cope with early surgery, feeding, developmental and behavioural problems establishes a need for psychological counseling for families receiving a diagnosis of Noonan syndrome. PMID:11140417

  5. Males under attack: sexual cannibalism and its consequences for male morphology

    E-print Network

    Foellmer, Matthias

    potentially very potent factor resulting in selection on males in the context of reproduction is sexualMales under attack: sexual cannibalism and its consequences for male morphology and behaviour success, males may be under sexual selection through male­male competition, female choice and/or sexual

  6. Evidence of selection on phenotypic plasticity and cost of plasticity in response to host-feeding sources in the major Chagas disease vector Triatoma infestans.

    PubMed

    Nattero, Julieta; Leonhard, Gustavo; Gürtler, Ricardo E; Crocco, Liliana B

    2015-12-01

    Phenotypic plasticity is the ability of a genotype to display alternative phenotypes in different environments. Understanding how plasticity evolves and the factors that favor and constrain its evolution have attracted great interest. We investigated whether selection on phenotypic plasticity and costs of plasticity affect head and wing morphology in response to host-feeding sources in the major Chagas disease vector Triatoma infestans. Full-sib families were assigned to blood-feeding on either live pigeons or guinea pigs throughout their lives. We measured diet-induced phenotypic plasticity on wing and head size and shape; characterized selection on phenotypic plasticity for female and male fecundity rates, and evaluated costs of plasticity. Wing size and shape variables exhibited significant differences in phenotypic plasticity associated with host-feeding source in female and male bugs. Evidence of selection on phenotypic plasticity was detected in head size and shape for guinea pig-fed females. A lower female fecundity rate was detected in more plastic families for traits that showed selection on plasticity. These results provide insights into the morphological phenotypic plasticity of T. infestans, documenting fitness advantages of head size and shape for females fed on guinea pigs. This vector species showed measurable benefits of responding plastically to environmental variation rather than adopting a fixed development plan. The presence of cost of plasticity suggests constraints on the evolution of plasticity. Our study indicates that females fed on guinea pigs (and perhaps on other suitable mammalian hosts) have greater chances of evolving under selection on phenotypic plasticity subject to some constraints. PMID:26433077

  7. Phenotype and genotype in females with POU3F4 mutations.

    PubMed

    Marlin, S; Moizard, M P; David, A; Chaissang, N; Raynaud, M; Jonard, L; Feldmann, D; Loundon, N; Denoyelle, F; Toutain, A

    2009-12-01

    X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non-syndromic hearing loss. To date, four loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In males, DFN3 is characterized by a progressive deafness associated with perilymphatic gusher at stapes surgery and with a characteristic inner ear malformation. The phenotype of eight independent females carrying POU3F4 anomalies is defined, and a late-onset hearing loss is found in three patients. Only one has an inner ear malformation. No genotype/phenotype correlation is identified. PMID:19930154

  8. A New Method to Infer Causal Phenotype Networks Using QTL and Phenotypic Information

    PubMed Central

    Wang, Huange; van Eeuwijk, Fred A.

    2014-01-01

    In the context of genetics and breeding research on multiple phenotypic traits, reconstructing the directional or causal structure between phenotypic traits is a prerequisite for quantifying the effects of genetic interventions on the traits. Current approaches mainly exploit the genetic effects at quantitative trait loci (QTLs) to learn about causal relationships among phenotypic traits. A requirement for using these approaches is that at least one unique QTL has been identified for each trait studied. However, in practice, especially for molecular phenotypes such as metabolites, this prerequisite is often not met due to limited sample sizes, high noise levels and small QTL effects. Here, we present a novel heuristic search algorithm called the QTL+phenotype supervised orientation (QPSO) algorithm to infer causal directions for edges in undirected phenotype networks. The two main advantages of this algorithm are: first, it does not require QTLs for each and every trait; second, it takes into account associated phenotypic interactions in addition to detected QTLs when orienting undirected edges between traits. We evaluate and compare the performance of QPSO with another state-of-the-art approach, the QTL-directed dependency graph (QDG) algorithm. Simulation results show that our method has broader applicability and leads to more accurate overall orientations. We also illustrate our method with a real-life example involving 24 metabolites and a few major QTLs measured on an association panel of 93 tomato cultivars. Matlab source code implementing the proposed algorithm is freely available upon request. PMID:25144184

  9. [Characteristics of the male facelift].

    PubMed

    Foissac, R; Colson, T R; Camuzard, O; Kestemont, P

    2014-01-01

    Male face lifting is the cosmetic surgery which has witnessed the greatest rise in demand in recent years. A result of social evolution and development of non-surgical techniques for facial rejuvenation, this intervention represents a real challenge for the surgeon who operates mainly on women. Man has specific characteristics which include differences in the aging process, and a multitude of anatomical and psychosocial factors that will require adjustments in the patient's overall care. Indeed, the adaptation of the conventional technique of the female facelift would lead to an unnatural result, not satisfactory for the patient. To best meet the demands of the male patient, the surgeon must take into account the male facial characteristics in order to optimize the results. PMID:26521365

  10. Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

    PubMed Central

    Zhang, Qihong; Nishimura, Darryl; Seo, Seongjin; Vogel, Tim; Morgan, Donald A.; Searby, Charles; Bugge, Kevin; Stone, Edwin M.; Rahmouni, Kamal; Sheffield, Val C.

    2011-01-01

    Bardet-Biedl syndrome (BBS) is a heterogeneous disorder characterized by obesity, retinopathy, polydactyly, and congenital anomalies. The incidence of hypertension and diabetes are also increased in BBS patients. Mutation of 16 genes independently causes BBS, and seven BBS proteins form the BBSome that promotes ciliary membrane elongation. BBS3 (ARL6), an ADP ribosylation factor-like small GTPase, is not part of the BBSome complex. The in vivo function of BBS3 is largely unknown. Here we developed a Bbs3 knockout model and demonstrate that Bbs3?/? mice develop BBS-associated phenotypes, including retinal degeneration, male infertility, and increased body fat. Interestingly, Bbs3?/? mice develop some unique phenotypes not seen in other BBS knockout models: no overt obesity, severe hydrocephalus, and elevated blood pressure (shared by some but not all BBS gene knockout mice). We found that endogenous BBS3 and the BBSome physically interact and depend on each other for their ciliary localization. This finding explains the phenotypic similarity between Bbs3?/? mice and BBSome subunit knockout mice. Loss of Bbs3 does not affect BBSome formation but disrupts normal localization of melanin concentrating hormone receptor 1 to ciliary membranes and affects retrograde transport of Smoothened inside cilia. We also show that the endogenous BBSome and BBS3 associate with membranes and the membrane association of the BBSome and BBS3 are not interdependent. Differences between BBS mouse models suggest nonoverlapping functions to individual BBS protein. PMID:22139371

  11. Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

    PubMed Central

    Haack, Tobias B.; Hogarth, Penelope; Kruer, Michael C.; Gregory, Allison; Wieland, Thomas; Schwarzmayr, Thomas; Graf, Elisabeth; Sanford, Lynn; Meyer, Esther; Kara, Eleanna; Cuno, Stephan M.; Harik, Sami I.; Dandu, Vasuki H.; Nardocci, Nardo; Zorzi, Giovanna; Dunaway, Todd; Tarnopolsky, Mark; Skinner, Steven; Frucht, Steven; Hanspal, Era; Schrander-Stumpel, Connie; Héron, Delphine; Mignot, Cyril; Garavaglia, Barbara; Bhatia, Kailash; Hardy, John; Strom, Tim M.; Boddaert, Nathalie; Houlden, Henry H.; Kurian, Manju A.; Meitinger, Thomas; Prokisch, Holger; Hayflick, Susan J.

    2012-01-01

    Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype. The clinical features include early-onset global developmental delay and further neurological deterioration (parkinsonism, dystonia, and dementia developing by early adulthood). Brain MRI revealed evidence of iron deposition in the substantia nigra and globus pallidus. Males and females are phenotypically similar, an observation that might be explained by somatic mosaicism in surviving males and germline or somatic mutations in females, as well as skewing of X chromosome inactivation. This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration. PMID:23176820

  12. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

    PubMed

    Haack, Tobias B; Hogarth, Penelope; Kruer, Michael C; Gregory, Allison; Wieland, Thomas; Schwarzmayr, Thomas; Graf, Elisabeth; Sanford, Lynn; Meyer, Esther; Kara, Eleanna; Cuno, Stephan M; Harik, Sami I; Dandu, Vasuki H; Nardocci, Nardo; Zorzi, Giovanna; Dunaway, Todd; Tarnopolsky, Mark; Skinner, Steven; Frucht, Steven; Hanspal, Era; Schrander-Stumpel, Connie; Héron, Delphine; Mignot, Cyril; Garavaglia, Barbara; Bhatia, Kailash; Hardy, John; Strom, Tim M; Boddaert, Nathalie; Houlden, Henry H; Kurian, Manju A; Meitinger, Thomas; Prokisch, Holger; Hayflick, Susan J

    2012-12-01

    Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller scaffold protein with a putative role in autophagy, cause a distinctive NBIA phenotype. The clinical features include early-onset global developmental delay and further neurological deterioration (parkinsonism, dystonia, and dementia developing by early adulthood). Brain MRI revealed evidence of iron deposition in the substantia nigra and globus pallidus. Males and females are phenotypically similar, an observation that might be explained by somatic mosaicism in surviving males and germline or somatic mutations in females, as well as skewing of X chromosome inactivation. This clinically recognizable disorder is among the more common forms of NBIA, and we suggest that it be named accordingly as beta-propeller protein-associated neurodegeneration. PMID:23176820

  13. Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations

    PubMed Central

    Baker, Kate; Astle, Duncan E; Scerif, Gaia; Barnes, Jessica; Smith, Jennie; Moffat, Georgina; Gillard, Jonathan; Baldeweg, Torsten; Raymond, F Lucy

    2015-01-01

    Objective Systematic investigation of individuals with intellectual disability after genetic diagnosis can illuminate specific phenotypes and mechanisms relevant to common neurodevelopmental disorders. We report the neurological, cognitive and neuroanatomical characteristics of nine males from three families with loss-of-function mutations in ZDHHC9 (OMIM #300799). Methods All known cases of X-linked intellectual disability (XLID) due to ZDHHC9 mutation in the United Kingdom were invited to participate in a study of neurocognitive and neuroimaging phenotypes. Results Seven out of nine males with ZDHHC9 mutations had been diagnosed with epilepsy, exceeding epilepsy risk in XLID comparison subjects (P = 0.01). Seizure histories and EEG features amongst ZDHHC9 mutation cases shared characteristics with rolandic epilepsy (RE). Specific cognitive deficits differentiated males with ZDHHC9 mutations from XLID comparison subjects and converged with reported linguistic and nonlinguistic deficits in idiopathic RE: impaired oromotor control, reduced verbal fluency, and impaired inhibitory control on visual attention tasks. Consistent neuroanatomical abnormalities included thalamic and striatal volume reductions and hypoplasia of the corpus callosum. Interpretation Mutations in ZDHHC9 are associated with susceptibility to focal seizures and specific cognitive impairments intersecting with the RE spectrum. Neurocognitive deficits are accompanied by consistent abnormalities of subcortical structures and inter-hemispheric connectivity. The biochemical, cellular and network-level mechanisms responsible for the ZDHHC9-associated neurocognitive phenotype may be relevant to cognitive outcomes in RE. PMID:26000327

  14. Do pheromones reveal male immunocompetence?

    PubMed Central

    Rantala, Markus J; Jokinen, Ilmari; Kortet, Raine; Vainikka, Anssi; Suhonen, Jukka

    2002-01-01

    Pheromones function not only as mate attractors, but they may also relay important information to prospective mates. It has been shown that vertebrates can distinguish, via olfactory mechanisms, major histocompatibility complex types in their prospective mates. However, whether pheromones can transmit information about immunocompetence is unknown. Here, we show that female mealworm beetles (Tenebrio molitor) prefer pheromones from males with better immunocompetence, indicated by a faster encapsulation rate against a novel antigen, and higher levels of phenoloxidase in haemolymph. Thus, the present study indicates that pheromones could transmit information about males' parasite resistance ability and may work as a reliable sexual ornament for female choice. PMID:12204128

  15. Radiofrequency treatment alters cancer cell phenotype

    NASA Astrophysics Data System (ADS)

    Ware, Matthew J.; Tinger, Sophia; Colbert, Kevin L.; Corr, Stuart J.; Rees, Paul; Koshkina, Nadezhda; Curley, Steven; Summers, H. D.; Godin, Biana

    2015-07-01

    The importance of evaluating physical cues in cancer research is gradually being realized. Assessment of cancer cell physical appearance, or phenotype, may provide information on changes in cellular behavior, including migratory or communicative changes. These characteristics are intrinsically different between malignant and non-malignant cells and change in response to therapy or in the progression of the disease. Here, we report that pancreatic cancer cell phenotype was altered in response to a physical method for cancer therapy, a non-invasive radiofrequency (RF) treatment, which is currently being developed for human trials. We provide a battery of tests to explore these phenotype characteristics. Our data show that cell topography, morphology, motility, adhesion and division change as a result of the treatment. These may have consequences for tissue architecture, for diffusion of anti-cancer therapeutics and cancer cell susceptibility within the tumor. Clear phenotypical differences were observed between cancerous and normal cells in both their untreated states and in their response to RF therapy. We also report, for the first time, a transfer of microsized particles through tunneling nanotubes, which were produced by cancer cells in response to RF therapy. Additionally, we provide evidence that various sub-populations of cancer cells heterogeneously respond to RF treatment.

  16. Radiofrequency treatment alters cancer cell phenotype

    PubMed Central

    Ware, Matthew J.; Tinger, Sophia; Colbert, Kevin L.; Corr, Stuart J.; Rees, Paul; Koshkina, Nadezhda; Curley, Steven; Summers, H. D.; Godin, Biana

    2015-01-01

    The importance of evaluating physical cues in cancer research is gradually being realized. Assessment of cancer cell physical appearance, or phenotype, may provide information on changes in cellular behavior, including migratory or communicative changes. These characteristics are intrinsically different between malignant and non-malignant cells and change in response to therapy or in the progression of the disease. Here, we report that pancreatic cancer cell phenotype was altered in response to a physical method for cancer therapy, a non-invasive radiofrequency (RF) treatment, which is currently being developed for human trials. We provide a battery of tests to explore these phenotype characteristics. Our data show that cell topography, morphology, motility, adhesion and division change as a result of the treatment. These may have consequences for tissue architecture, for diffusion of anti-cancer therapeutics and cancer cell susceptibility within the tumor. Clear phenotypical differences were observed between cancerous and normal cells in both their untreated states and in their response to RF therapy. We also report, for the first time, a transfer of microsized particles through tunneling nanotubes, which were produced by cancer cells in response to RF therapy. Additionally, we provide evidence that various sub-populations of cancer cells heterogeneously respond to RF treatment. PMID:26165830

  17. Phenotypic quality influences fertility in Gombe chimpanzees

    E-print Network

    Jones, James Holland

    in the previous off- spring, access to resources, and the viability of the foetus. In humans, female fertility al. (2007a) reported a similar trajectory in chimpanzee fertility, except that female chimpanzeesPhenotypic quality influences fertility in Gombe chimpanzees James Holland Jones1,2 *, Michael L

  18. Phenotype Information Retrieval for Existing GWAS Studies.

    PubMed

    Alipanah, Neda; Lin, Ko-Wei; Venkatesh, Vinay; Farzaneh, Seena; Kim, Hyeon-Eui

    2013-01-01

    The database of Genotypes and Phenotypes (dbGaP) is archiving the results of different Genome Wide Association Studies (GWAS). dbGaP has a multitude of phenotype variables, but they are not harmonized across studies. We proposed a method to standardize phenotype variables by classifying similar variables based on semantic distances. We first extracted variables description, enriched them using domain knowledge, and computed the distances among them. We used clustering techniques to classify the most similar variables. We used domain experts to audit clusters, annotated the clusters with appropriate labels, and used re-clustering to build a semantically-driven Genotypes and Phenotypes (sdGaP) ontology using the UMLS semantic network and metathesaurus. The sdGaP ontology allowed us to expand user queries and retrieve information using a semantic metric called density measure (DM). We illustrated the potential improvement of information retrieval using the sdGaP ontology in one search scenario using the variables from the Cleveland Family Study. PMID:24303228

  19. Phenotype Information Retrieval for Existing GWAS Studies

    PubMed Central

    Alipanah, Neda; Lin, Ko-Wei; Venkatesh, Vinay; Farzaneh, Seena; Kim, Hyeon-eui

    The database of Genotypes and Phenotypes (dbGaP) is archiving the results of different Genome Wide Association Studies (GWAS). dbGaP has a multitude of phenotype variables, but they are not harmonized across studies. We proposed a method to standardize phenotype variables by classifying similar variables based on semantic distances. We first extracted variables description, enriched them using domain knowledge, and computed the distances among them. We used clustering techniques to classify the most similar variables. We used domain experts to audit clusters, annotated the clusters with appropriate labels, and used re-clustering to build a semantically-driven Genotypes and Phenotypes (sdGaP) ontology using the UMLS semantic network and metathesaurus. The sdGaP ontology allowed us to expand user queries and retrieve information using a semantic metric called density measure (DM). We illustrated the potential improvement of information retrieval using the sdGaP ontology in one search scenario using the variables from the Cleveland Family Study. PMID:24303228

  20. Restoration of normal phenotype in cancer cells

    DOEpatents

    Bissell, Mina J. (Berkeley, CA); Weaver, Valerie M. (Oakland, CA)

    1998-01-01

    A method for reversing expression of malignant phenotype in cancer cells is described. The method comprises applying .beta..sub.1 integrin function-blocking antibody to the cells. The method can be used to assess the progress of cancer therapy. Human breast epithelial cells were shown to be particularly responsive.

  1. Parasitism and phenotypic change in colonial hosts.

    PubMed

    Hartikainen, Hanna; Fontes, Inês; Okamura, Beth

    2013-09-01

    Changes in host phenotype are often attributed to manipulation that enables parasites to complete trophic transmission cycles. We characterized changes in host phenotype in a colonial host–endoparasite system that lacks trophic transmission (the freshwater bryozoan Fredericella sultana and myxozoan parasite Tetracapsuloides bryosalmonae). We show that parasitism exerts opposing phenotypic effects at the colony and module levels. Thus, overt infection (the development of infectious spores in the host body cavity) was linked to a reduction in colony size and growth rate, while colony modules exhibited a form of gigantism. Larger modules may support larger parasite sacs and increase metabolite availability to the parasite. Host metabolic rates were lower in overtly infected relative to uninfected hosts that were not investing in propagule production. This suggests a role for direct resource competition and active parasite manipulation (castration) in driving the expression of the infected phenotype. The malformed offspring (statoblasts) of infected colonies had greatly reduced hatching success. Coupled with the severe reduction in statoblast production this suggests that vertical transmission is rare in overtly infected modules. We show that although the parasite can occasionally infect statoblasts during overt infections, no infections were detected in the surviving mature offspring, suggesting that during overt infections, horizontal transmission incurs a trade-off with vertical transmission. PMID:23965820

  2. ORIGINAL CONTRIBUTION Modification of Multiple Sclerosis Phenotypes

    E-print Network

    Reich, David

    ORIGINAL CONTRIBUTION Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLA. Oksenberg, PhD Background: In those with multiple sclerosis (MS), Afri- can American individuals have a more ancestry at HLA correlated with dis- ability as measured by the Multiple Sclerosis Severity Score (P .001

  3. Restoration of normal phenotype in cancer cells

    DOEpatents

    Bissell, M.J.; Weaver, V.M.

    1998-12-08

    A method for reversing expression of malignant phenotype in cancer cells is described. The method comprises applying {beta}{sub 1} integrin function-blocking antibody to the cells. The method can be used to assess the progress of cancer therapy. Human breast epithelial cells were shown to be particularly responsive. 14 figs.

  4. Cognitive Phenotype of Velocardiofacial Syndrome: A Review

    ERIC Educational Resources Information Center

    Furniss, Frederick; Biswas, Asit B.; Gumber, Rohit; Singh, Niraj

    2011-01-01

    The behavioural phenotype of velocardiofacial syndrome (VCFS), one of the most common human multiple anomaly syndromes, includes developmental disabilities, frequently including intellectual disability (ID) and high risk of diagnosis of psychotic disorders including schizophrenia. VCFS may offer a model of the relationship between ID and risk of…

  5. PRIMARY CILIARY DYSKINESIA: DIAGNOSTIC AND PHENOTYPIC FEATURES

    EPA Science Inventory

    Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in ciliary structure/function. We hypothesized that the major clinical and biologic phenotypic markers of the disease could be evaluated by studying a cohort of subjects suspected of having PCD. ...

  6. Behavioural Phenotypes in Disability Research: Historical Perspectives

    ERIC Educational Resources Information Center

    Goodey, C. F.

    2006-01-01

    Western medicine has a long history of accounting for behaviour by reducing the body to ultimate explanatory entities. In pre-modern medicine these were invisible "animal spirits" circulating the body. In modern medicine, they are "genes". Both raise questions. The psychological phenotype is defined by human consensus, varying according to time…

  7. The Behavioural Phenotype of Angelman Syndrome

    ERIC Educational Resources Information Center

    Horsler, K.; Oliver, C.

    2006-01-01

    Background: The purpose of this review is to examine the notion of a behavioural phenotype for Angelman syndrome and identify methodological and conceptual influences on the accepted presentation. Methods: Studies examining the behavioural characteristics associated with Angelman syndrome are reviewed and methodology is described. Results:…

  8. Genetic Changes to a Transcriptional Silencer Element Confers Phenotypic Diversity within and between Drosophila Species

    PubMed Central

    Watada, Masayoshi; Pruitt, Jonathan N.; Williams, Thomas M.; Rebeiz, Mark

    2015-01-01

    The modification of transcriptional regulation has become increasingly appreciated as a major contributor to morphological evolution. However, the role of negative-acting control elements (e.g. silencers) in generating morphological diversity has been generally overlooked relative to positive-acting “enhancer” elements. The highly variable body coloration patterns among Drosophilid insects represents a powerful model system in which the molecular alterations that underlie phenotypic diversity can be defined. In a survey of pigment phenotypes among geographically disparate Japanese populations of Drosophila auraria, we discovered a remarkable degree of variation in male-specific abdominal coloration. In testing the expression patterns of the major pigment-producing enzymes, we found that phenotypes uniquely correlated with differences in the expression of ebony, a gene required for yellow-colored cuticle. Assays of ebony’s transcriptional control region indicated that a lightly pigmented strain harbored cis-regulatory mutations that caused correlated changes in its expression. Through a series of chimeric reporter constructs between light and dark strain alleles, we localized function-altering mutations to a conserved silencer that mediates a male-specific pattern of ebony repression. This suggests that the light allele was derived through the loss of this silencer’s activity. Furthermore, examination of the ebony gene of D. serrata, a close relative of D. auraria which secondarily lost male-specific pigmentation revealed the parallel loss of this silencer element. These results demonstrate how loss-of-function mutations in a silencer element resulted in increased gene expression. We propose that the mutational inactivation of silencer elements may represent a favored path to evolve gene expression, impacting morphological traits. PMID:26115430

  9. The Founder Strains of the Collaborative Cross Express a Complex Combination of Advantageous and Deleterious Traits for Male Reproduction.

    PubMed

    Odet, Fanny; Pan, Wenqi; Bell, Timothy A; Goodson, Summer G; Stevans, Alicia M; Yun, Zianing; Aylor, David L; Kao, Chia-Yu; McMillan, Leonard; de Villena, Fernando Pardo-Manuel; O'Brien, Deborah A

    2015-01-01

    Surveys of inbred strains of mice are standard approaches to determine the heritability and range of phenotypic variation for biomedical traits. In addition, they may lead to the identification of novel phenotypes and models of human disease. Surprisingly, male reproductive phenotypes are among the least-represented traits in the Mouse Phenome Database. Here we report the results of a broad survey of the eight founder inbred strains of both the Collaborative Cross (CC) and the Diversity Outbred populations, two new mouse resources that are being used as platforms for systems genetics and sources of mouse models of human diseases. Our survey includes representatives of the three main subspecies of the house mice and a mix of classical and wild-derived inbred strains. In addition to standard staples of male reproductive phenotyping such as reproductive organ weights, sperm counts, and sperm morphology, our survey includes sperm motility and the first detailed survey of testis histology. As expected for such a broad survey, heritability varies widely among traits. We conclude that although all eight inbred strains are fertile, most display a mix of advantageous and deleterious male reproductive traits. The CAST/EiJ strain is an outlier, with an unusual combination of deleterious male reproductive traits including low sperm counts, high levels of morphologically abnormal sperm, and poor motility. In contrast, sperm from the PWK/PhJ and WSB/EiJ strains had the greatest percentages of normal morphology and vigorous motility. Finally, we report an abnormal testis phenotype that is highly heritable and restricted to the WSB/EiJ strain. This phenotype is characterized by the presence of a large, but variable, number of vacuoles in at least 10% of the seminiferous tubules. The onset of the phenotype between 2 and 3 wk of age is temporally correlated with the formation of the blood-testis barrier. We speculate that this phenotype may play a role in high rates of extinction in the CC project and in the phenotypes associated with speciation in genetic crosses that use the WSB/EiJ strain as representative of the Mus muculus domesticus subspecies. PMID:26483008

  10. The Founder Strains of the Collaborative Cross Express a Complex Combination of Advantageous and Deleterious Traits for Male Reproduction

    PubMed Central

    Odet, Fanny; Pan, Wenqi; Bell, Timothy A.; Goodson, Summer G.; Stevans, Alicia M.; Yun, Zianing; Aylor, David L.; Kao, Chia-Yu; McMillan, Leonard; de Villena, Fernando Pardo-Manuel; O’Brien, Deborah A.

    2015-01-01

    Surveys of inbred strains of mice are standard approaches to determine the heritability and range of phenotypic variation for biomedical traits. In addition, they may lead to the identification of novel phenotypes and models of human disease. Surprisingly, male reproductive phenotypes are among the least-represented traits in the Mouse Phenome Database. Here we report the results of a broad survey of the eight founder inbred strains of both the Collaborative Cross (CC) and the Diversity Outbred populations, two new mouse resources that are being used as platforms for systems genetics and sources of mouse models of human diseases. Our survey includes representatives of the three main subspecies of the house mice and a mix of classical and wild-derived inbred strains. In addition to standard staples of male reproductive phenotyping such as reproductive organ weights, sperm counts, and sperm morphology, our survey includes sperm motility and the first detailed survey of testis histology. As expected for such a broad survey, heritability varies widely among traits. We conclude that although all eight inbred strains are fertile, most display a mix of advantageous and deleterious male reproductive traits. The CAST/EiJ strain is an outlier, with an unusual combination of deleterious male reproductive traits including low sperm counts, high levels of morphologically abnormal sperm, and poor motility. In contrast, sperm from the PWK/PhJ and WSB/EiJ strains had the greatest percentages of normal morphology and vigorous motility. Finally, we report an abnormal testis phenotype that is highly heritable and restricted to the WSB/EiJ strain. This phenotype is characterized by the presence of a large, but variable, number of vacuoles in at least 10% of the seminiferous tubules. The onset of the phenotype between 2 and 3 wk of age is temporally correlated with the formation of the blood-testis barrier. We speculate that this phenotype may play a role in high rates of extinction in the CC project and in the phenotypes associated with speciation in genetic crosses that use the WSB/EiJ strain as representative of the Mus muculus domesticus subspecies. PMID:26483008

  11. Phenotypic plasticity and divergence in gene expression.

    PubMed

    Healy, Timothy M; Schulte, Patricia M

    2015-07-01

    The extent to which phenotypic plasticity, or the ability of a single genotype to produce different phenotypes in different environments, impedes or promotes genetic divergence has been a matter of debate within evolutionary biology for many decades (see, for example, Ghalambor et al. ; Pfennig et al. ). Similarly, the role of evolution in shaping phenotypic plasticity remains poorly understood (Pigliucci ). In this issue of Molecular Ecology, Dayan et al. () provide empirical data relevant to these questions by assessing the extent of plasticity and divergence in the expression levels of 2272 genes in muscle tissue from killifish (genus Fundulus) exposed to different temperatures. F. heteroclitus (Fig. A) and F. grandis are minnows that inhabit estuarine marshes (Fig. B) along the coasts of the Atlantic Ocean and Gulf of Mexico in North America. These habitats undergo large variations in temperature both daily and seasonally, and these fish are known to demonstrate substantial phenotypic plasticity in response to temperature change (e.g. Fangue et al. ). Furthermore, the range of F. heteroclitus spans a large latitudinal gradient of temperatures, such that northern populations experience temperatures that are on average ~10°C colder than do southern populations (Schulte ). By comparing gene expression patterns between populations of these fish from different thermal habitats held in the laboratory at three different temperatures, Dayan et al. () address two important questions regarding the interacting effects of plasticity and evolution: (i) How does phenotypic plasticity affect adaptive divergence? and (ii) How does adaptive divergence affect plasticity? PMID:26096949

  12. Predator-driven phenotypic diversification in Gambusia affinis.

    PubMed

    Langerhans, R Brian; Layman, Craig A; Shokrollahi, A Mona; DeWitt, Thomas J

    2004-10-01

    Predation is heterogeneously distributed across space and time, and is presumed to represent a major source of evolutionary diversification. In fishes, fast-starts--sudden, high-energy swimming bursts--are often important in avoiding capture during a predator strike. Thus, in the presence of predators, we might expect evolution of morphological features that facilitate increased fast-start speed. We tested this hypothesis using populations of western mosquitofish (Gambusia affinis) that differed in level of predation by piscivorous fish. Body morphology of G. affinis males, females, and juveniles diverged in a consistent manner between predatory environments. Fish collected from predator populations exhibited a larger caudal region, smaller head, more elongate body, and a posterior, ventral position of the eye relative to fish from predator-free populations. Divergence in body shape largely matched a priori predictions based on biomechanical principles, and was evident across space (multiple populations) and time (multiple years). We measured maximum burst-swimming speed for male mosquitofish and found that individuals from predator populations produced faster bursts than fish from predator-free populations (about 20% faster). Biomechanical models of fish swimming and intrapopulation morphology-speed correlations suggested that body shape differences were largely responsible for enhanced locomotor performance in fish from predator populations. Morphological differences also persisted in offspring raised in a common laboratory environment, suggesting a heritable component to the observed morphological divergence. Taken together, these results strongly support the hypothesis that divergent selection between predator regimes has produced the observed phenotypic differences among populations of G. affinis. Based on biomechanical principles and recent findings in other species, it appears that the general ecomorphological model described in this paper will apply for many aquatic taxa, and provide insight into the role of predators in shaping the body form of prey organisms. PMID:15562692

  13. Graduating Black Males: A Generic Qualitative Study

    ERIC Educational Resources Information Center

    Bell, Edward E.

    2014-01-01

    Black males face a difficult educational battle. Across America, graduation statistics for Black males are sobering. The purpose of this study was to explore why Black males drop out of school and to examine the current employment status of the study participants. The research took place in rural North Carolina. Fifteen Black American male high…

  14. Sexual Assault of Adult Males.

    ERIC Educational Resources Information Center

    Stermac, Lana; And Others

    1996-01-01

    Examines the circumstances and characteristics of sexual assaults against adult males presenting to a crisis unit in a large metropolitan area. Most victims were young gay men, many of whom had physical or cognitive disabilities making them particularly vulnerable. Results suggest a need for increased awareness of acquaintance sexual assault in…

  15. Ferocious fighting between male grasshoppers.

    PubMed

    Umbers, Kate D L; Tatarnic, Nikolai J; Holwell, Gregory I; Herberstein, Marie E

    2012-01-01

    Contests among individuals over mating opportunities are common across diverse taxa, yet physical conflict is relatively rare. Due to the potentially fatal consequences of physical fighting, most animals employ mechanisms of conflict resolution involving signalling and ritualistic assessment. Here we provide the first evidence of ubiquitous escalated fighting in grasshoppers. The chameleon grasshopper (Kosciuscola tristis) is an Australian alpine specialist, in which males engage in highly aggressive combat over ovipositing females. We describe discrete agonistic behaviours including mandible flaring, mounting, grappling, kicking and biting, and their use depending on the individual's role as challenger or defender. We show that male role predicts damage, with challengers being more heavily damaged than males defending females (defenders). Challengers also possess wider mandibles than defenders, but are similar in other metrics of body size. Our data suggest that fights escalate between males matched in body size and that mandibles are used as weapons in this species. This system represents an exciting opportunity for future research into the evolution of costly fighting behaviour in an otherwise placid group. PMID:23166725

  16. Male Osteoporosis in the Elderly

    PubMed Central

    D'Amelio, Patrizia; Isaia, Giovanni Carlo

    2015-01-01

    Osteoporosis is now recognized as an important public health problem in elderly men as fragility fractures are complicated by increased morbidity, mortality, and social costs. This review comprises an overview of recent findings in pathophysiology, diagnosis, and treatment of male osteoporosis, with particular regard to the old population. PMID:26457082

  17. ASSESSMENT OF MALE REPRODUCTIVE TOXICITY

    EPA Science Inventory

    This chapter reviews the subject of risk assessment in male reproductive toxicology. After providing an overview of the risk assessment process, laboratory test protocols, including those specified by EPA and used by NIEHS are summarized and discussed in detail with respect to t...

  18. Neural Circuits: Male Mating Motifs.

    PubMed

    Benton, Richard

    2015-09-01

    Characterizing microcircuit motifs in intact nervous systems is essential to relate neural computations to behavior. In this issue of Neuron, Clowney et al. (2015) identify recurring, parallel feedforward excitatory and inhibitory pathways in male Drosophila's courtship circuitry, which might explain decisive mate choice. PMID:26335638

  19. EigenPhenotypes: Towards an Algorithmic Framework for Phenotype Alexander Vaughan1

    E-print Network

    Yoon, Ilmi

    experiments showing that the molting of the moth Manduca sexta (an established phenotype) can be discovered without foreknowledge of the form or organization of that behavior. In the molting behavior of the moth

  20. Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations

    PubMed Central

    Termsarasab, Pichet; Yang, Amy C.; Frucht, Steven J.

    2015-01-01

    Background ATP1A3-related disorders include rapid-onset dystonia–parkinsonism (RDP or DYT12), alternating hemiplegia of childhood (AHC), and CAPOS syndrome (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss). Case Report We report two cases with intermediate forms between RDP and AHC. Patient 1 initially presented with the AHC phenotype, but the RDP phenotype emerged at age 14 years. The second patient presented with levodopa-responsive paroxysmal oculogyria, a finding never before reported in ATP1A3-related disorders. Genetic testing confirmed heterozygous changes in the ATP1A3 gene in both patients, one of them novel. Discussion Intermediate phenotypes of RDP and AHC support the concept that these two disorders are part of a spectrum. We add our cases to the phenotype–genotype correlations of ATP1A3-related disorders. PMID:26417536

  1. The buck in the milkweed: evidence of male-male interference among pollinaria on pollinators.

    PubMed

    Cocucci, Andrea A; Marino, Salvador; Baranzelli, Matías; Wiemer, Ana P; Sérsic, Alicia

    2014-07-01

    Direct physical confrontation among conspecifics for access to mates is a form of sexual selection well known among animals, but not thought to take place in plants. Consequently, no structures are known that can be considered as weapons that evolved under such confrontation. Pollinaria of milkweeds may physically compete for access to attachment points on the pollinators' body, and occasionally pollinaria may link onto pre-existing pollinaria on a pollinator resulting in concatenation. We hypothesized that concatenation may result in interference between proximal and distal pollinaria, and that features of nonconcatenating pollinaria might be attributed to prevention of concatenation. We tested this by analyzing pollen donation efficiency, experimental manipulation of the phenotype and the phylogenetic patterns of co-occurrence of traits. It is shown that concatenation was able to diminish the reproductive performance of proximal pollinaria, that horns on pollinaria prevented concatenation, and that horn acquisition was correlated with a loss of concatenation. The experimental removal of horns in species that did not concatenate caused reversion to concatenation. The present work could be the first evidence of male physical struggles and of the acquisition of weapons related to these struggles, that are analogous to those known in animals. PMID:24645822

  2. Agonistic onset during development differentiates wild house mouse males (Mus domesticus)

    NASA Astrophysics Data System (ADS)

    Krackow, Sven

    2005-02-01

    Wild house mouse populations have been suggested to locally adapt to varying dispersal regimes by expressing divergent aggressivity phenotypes. This conjecture implies, first, genetic polymorphism for dispersive strategies which is supported by the finding of heritable variation for male dispersal tendency in feral house mice. Secondly, aggressivity is assumed to translate into dispersal rates. This speculation is reinforced by experimental evidence showing that non-agonistic males display lower dispersal propensity than same-aged males that have established agonistic dominance. However, the actual ontogenetic behavioural pattern and its variability among populations remain unknown. Hence, in this study the timing of agonistic onset is quantified within laboratory-reared fraternal pairs, and compared between descendants from two different feral populations. Males from the two populations (G and Z) differed strongly in agonistic development, as Z fraternal pairs had a 50% risk of agonistic onset before 23.5±2.7 days of age, while this took 57.3±5.4 days in males from population G. This difference coincided with significant genetic differentiation between the males of the two populations as determined by 11 polymorphic microsatellite markers. Furthermore, in population G, males from agonistic and amicable fraternal pairs exhibited significant genetic differentiation. These results corroborate the supposition of genetic variability for dispersive strategies in house mice, and identify the ontogenetic timing of agonistic phenotype development as the potential basis for genetic differentiation. This opens a unique opportunity to study the genetic determination of a complex mammalian behavioural syndrome in a life history context, using a simple laboratory paradigm.

  3. Male fish deceive competitors about mating preferences.

    PubMed

    Plath, Martin; Richter, Stephanie; Tiedemann, Ralph; Schlupp, Ingo

    2008-08-01

    A fundamental question in animal communication is whether the information provided is honest or deceptive [1, 2]. This problem has received much attention, both in theoretical [1, 3] and experimental [4] work. Here we show that male Atlantic mollies (Poecilia mexicana), when observed during mate choice by another male, reduce their mating activity and no longer prefer mating with one of two females presented, which can be interpreted as an attempt to avoid unintended interception of information by the rival male. Most importantly, focal males directed their first sexual interaction (after they were presented with the rival male) toward the initially nonpreferred female, suggesting that males deceive other males about their mating preferences. Deception by the choosing male may be an adaptation to avoid sperm competition, because surrounding males may use public information and copy the focal male's mate choice. PMID:18674912

  4. First analysis of eight Algol-type binaries: EI Aur, XY Dra, BP Dra, DD Her, VX Lac, WX Lib, RZ Lyn, and TY Tri

    NASA Astrophysics Data System (ADS)

    Zasche, P.

    2016-01-01

    The available photometry from the online databases were used for the first light curve analysis of eight eclipsing binary systems EI Aur, XY Dra, BP Dra, DD Her, VX Lac, WX Lib, RZ Lyn, and TY Tri. All these stars are of Algol-type, having the detached components and the orbital periods from 0.92 to 6.8 days. For the systems EI Aur and BP Dra the large amount of the third light was detected during the light curve solution. Moreover, 468 new times of minima for these binaries were derived, trying to identify the period variations. For the systems XY Dra and VX Lac the third bodies were detected with the periods 17.7, and 49.3 years, respectively.

  5. Thermoluminescence investigations on xY2O3 (60-x)P2O5·40SiO2 vitroceramics.

    PubMed

    Biró, Barna; Pascu, Andrada; Timar-Gabor, Alida; Simon, Viorica

    2015-04-01

    Thermoluminescence properties of xY2O3·(60-x)P2O5·40SiO2 vitroceramic compounds doped with xY2O3 at various concentrations (0?x?30mol%) were studied. Compounds with reduced Y2O3 concentration showed unsatisfactory dosimetric properties, while the vitroceramics composed of 20Y2O3·40P2O5·40SiO2 and 30Y2O3·30P2O5·40SiO2 exhibited bright signals, linear dose response and minimum detectable doses of 16mGy and 4mGy, respectively. Moreover, 30mol% Y2O3 doped vitroceramic exhibited good repeatability, acceptable batch homogeneity and poor fading signal, features that are recommending this material for dosimetry purposes. PMID:25637884

  6. Tensorial development of the rovibronic Hamiltonian and dipole moment operators for XY 3Z molecules with a degenerate electronic state: Preliminary application to the CH 3O radical

    NASA Astrophysics Data System (ADS)

    El Hilali, A.; Boudon, V.; Loëte, M.

    2009-02-01

    We present a development of the Hamiltonian and transition moment operators of XY 3Z (C3v) symmetric tops molecules in a degenerate electronic state with the aid of a tensorial formalism developed in a recent paper [A. El Hilali, V. Boudon, M. Loëte, J. Mol. Spectrosc. 239 (2006) 41-50]. Electronic operators are defined from group theory properties. They provide a new approach to build an effective rovibronic Hamiltonian as well as an effective dipole moment operator for rovibronic transition of XY 3Z molecules. This model is studied qualitatively thanks to the tensorial algebra properties. Expressions of the matrix elements are derived for these operators. A first simple application to the ground electronic state of CH 3O is proposed as an illustrative example.

  7. Decreased XY recombination and disturbed meiotic prophase I progression in an infertile 48, XYY, +sSMC man.

    PubMed

    Wang, Liu; Xu, Zhipeng; Iqbal, Furhan; Zhong, Liangwen; Zhang, Yuanwei; Wu, Caiyun; Zhou, Guixiang; Jiang, Hanwei; Bukhari, Ihtisham; Cooke, Howard J; Shi, Qinghua

    2015-06-01

    Small supernumerary marker chromosomes (sSMCs) are structurally abnormal rare chromosomes, difficult to characterize by karyotyping, and have been associated with minor dysmorphic features, azoospermia, and recurrent miscarriages. However, sSMC with a gonosomal trisomy has never been reported. Spermatocyte spreading and immunostaining were applied to detect meiotic prophase I progression, homologous chromosome pairing, synapsis, and recombination. In all the analyzed spermatocytes of the patient, the extra Y chromosome was not detected while the sSMC was present. The recombination frequency on autosomes was not affected, while the recombination frequencies on XY chromosome was significantly lower in the patient than in the controls. The meiotic prophase I progression was disturbed with significantly increased proportion of zygotene and decreased pachytene spermatocytes in the patients as compared with the controls. These findings highlight the importance of studies on meiotic behaviors in patients with an abnormal chromosomal constitution and provide an important framework for future studies, which may elucidate the impairment caused by sSMC in mammalian meiosis and fertility. PMID:25627925

  8. Construction of a confocal microscope for real-time x-y and x-z imaging.

    PubMed

    Callamaras, N; Parker, I

    1999-12-01

    We describe the construction of a simple 'real-time' laser-scanning confocal microscope, and illustrate its use for rapid imaging of elementary intracellular calcium signaling events. A resonant scanning galvanometer (8 kHz) allows x-y frame acquisition rates of 15 or 30 Hz, and the use of mirrors to scan the laser beam permits use of true, pin-hole confocal detection to provide diffraction-limited spatial resolution. Furthermore, use of a piezoelectric device to rapidly focus the objective lens allows axial (x-z) images to be obtained from thick specimens at similar frame rates. A computer with image acquisition and graphics cards converts the output from the microscope to a standard video signal, which can then be recorded on videotape and analyzed by regular image processing systems. The system is largely made from commercially available components and requires little custom construction of mechanical parts or electronic circuitry. It costs only a small fraction of that of comparable commercial instruments, yet offers greater versatility and similar or better performance. PMID:10668565

  9. Nematogalectin, a nematocyst protein with GlyXY and galectin domains, demonstrates nematocyte-specific alternative splicing in Hydra

    PubMed Central

    Hwang, Jung Shan; Takaku, Yasuharu; Momose, Tsuyoshi; Adamczyk, Patrizia; Özbek, Suat; Ikeo, Kazuho; Khalturin, Konstantin; Hemmrich, Georg; Bosch, Thomas C. G.; Holstein, Thomas W.; David, Charles N.; Gojobori, Takashi

    2010-01-01

    Taxonomically restricted genes or lineage-specific genes contribute to morphological diversification in metazoans and provide unique functions for particular taxa in adapting to specific environments. To understand how such genes arise and participate in morphological evolution, we have investigated a gene called nematogalectin in Hydra, which has a structural role in the formation of nematocysts, stinging organelles that are unique to the phylum Cnidaria. Nematogalectin is a 28-kDa protein with an N-terminal GlyXY domain (glycine followed by two hydrophobic amino acids), which can form a collagen triple helix, followed by a galactose-binding lectin domain. Alternative splicing of the nematogalectin transcript allows the gene to encode two proteins, nematogalectin A and nematogalectin B. We demonstrate that expression of nematogalectin A and B is mutually exclusive in different nematocyst types: Desmonemes express nematogalectin B, whereas stenoteles and isorhizas express nematogalectin B early in differentiation, followed by nematogalectin A. Like Hydra, the marine hydrozoan Clytia also has two nematogalectin transcripts, which are expressed in different nematocyte types. By comparison, anthozoans have only one nematogalectin gene. Gene phylogeny indicates that tandem duplication of nematogalectin B exons gave rise to nematogalectin A before the divergence of Anthozoa and Medusozoa and that nematogalectin A was subsequently lost in Anthozoa. The emergence of nematogalectin A may have played a role in the morphological diversification of nematocysts in the medusozoan lineage. PMID:20937891

  10. Order by disorder spin wave gap in the XY pyrochlore magnet Er2Ti2O7.

    PubMed

    Ross, K A; Qiu, Y; Copley, J R D; Dabkowska, H A; Gaulin, B D

    2014-02-01

    The recent determination of a robust spin Hamiltonian for the antiferromagnetic XY pyrochlore Er2Ti2O7 reveals a most convincing case of the "Order-by-Quantum-Disorder" mechanism for ground state selection. This mechanism relies on quantum fluctuations to remove an accidental symmetry of the magnetic ground state, and selects a particular ordered spin structure below TN=1.2?K. The removal of the continuous degeneracy results in an energy gap in the spectrum of spin wave excitations, long wavelength pseudo-Goldstone modes. We have measured the Order-by-Quantum-Disorder spin wave gap at a zone center in Er2Ti2O7, using low incident energy neutrons and the time-of-flight inelastic scattering method. We report a gap of ?=0.053±0.006??meV, which is consistent with upper bounds placed on it from heat capacity measurements and roughly consistent with the theoretical estimate of ?0.02??meV, further validating the spin Hamiltonian that led to that prediction. The gap is observed to vary with the square of the order parameter, and goes to zero for T?TN. PMID:24580625

  11. Spiral antiferromagnets beyond the spin-wave approximation: Frustrated XY and Heisenberg models on the honeycomb lattice

    NASA Astrophysics Data System (ADS)

    Di Ciolo, Andrea; Carrasquilla, Juan; Becca, Federico; Rigol, Marcos; Galitski, Victor

    2014-03-01

    We examine the stability of classical states with a generic incommensurate spiral order against quantum fluctuations. Specifically, we focus on the frustrated spin-1/2 XY and Heisenberg models on the honeycomb lattice with nearest-neighbor J1 and next-nearest-neighbor J2 antiferromagnetic couplings. Our variational approach is based on the Jastrow wave functions, which include quantum correlations on top of classical spin waves. We perform a systematic optimization of wave vectors and Jastrow pseudopotentials within this class of variational states and find that quantum fluctuations favor collinear states over generic coplanar spirals. The Néel state with Q =(0,0) extends its stability well beyond the classical value J2/J1=1/6. Most importantly, the collinear states with Q =(0,2?/?3 ) (and the two symmetry-related states) are found to be stable in a large regime with intermediate frustration, while at the classical level they are limited to the point J2/J1=0.5. For large frustration, the 120? state is stabilized for finite values of J2/J1 in both models.

  12. Nonequilibrium Quantum Phase Transitions in the XY model: comparison of unitary time evolution and reduced density matrix approaches

    E-print Network

    Shigeru Ajisaka; Felipe Barra; Bojan Žunkovi?

    2014-01-17

    We study nonequilibrium quantum phase transitions in XY spin 1/2 chain using the $C^*$ algebra. We show that the well-known quantum phase transition at magnetic field $h = 1$ persists also in the nonequilibrium setting as long as one of the reservoirs is set to absolute zero temperature. In addition, we find nonequilibrium phase transitions associated to imaginary part of the correlation matrix for any two different temperatures of the reservoirs at $h = 1$ and $h = h_{\\rm c} \\equiv|1-\\gamma^2|$, where $\\gamma$ is the anisotropy and $h$ the magnetic field strength. In particular, two nonequilibrium quantum phase transitions coexist at $h=1$. In addition we also study the quantum mutual information in all regimes and find a logarithmic correction of the area law in the nonequilibrium steady state independent of the system parameters. We use these nonequilibrium phase transitions to test the utility of two models of reduced density operator, namely Lindblad mesoreservoir and modified Redfield equation. We show that the nonequilibrium quantum phase transition at $h = 1$ related to the divergence of magnetic susceptibility is recovered in the mesoreservoir approach, whereas it is not recovered using the Redfield master equation formalism. However none of the reduced density operator approaches could recover all the transitions observed by the $C^*$ algebra. We also study thermalization properties of the mesoreservoir approach.

  13. Conspicuous Coloration in Males of the Damselfly Nehalennia irene (Zygoptera: Coenagrionidae): Do Males Signal Their Unprofitability to Other Males?

    PubMed Central

    Beatty, Christopher D.; Andrés, José A.; Sherratt, Thomas N.

    2015-01-01

    In damselflies, sexual colour dimorphism is commonly explained as a consequence of selection on traits that increase male attractiveness to females. However, while many species in the damselfly family Coenagrionidae (Insecta: Odonata) are sexually dimorphic, the males do not engage in displays, and male competition for mates resembles a “scramble”. An alternative explanation for the sexual differences in coloration within these species is that sexual dimorphism has evolved as a sex-related warning signal, with males signalling their uprofitability as mates to other males, thereby avoiding harassment from conspecifics. We evaluated an underlying assumption of the theory that male-male harassment rate is influenced by colour by comparing harassment of males of the species Nehalennia irene that had been painted to make them appear: (i) similar to an unaltered male (blue), (ii) different from a male (orange) and (iii) more similar to a female (black). When caged together we found that blue-painted males experienced significantly lower harassment than black-painted males. When unpainted males were caged with each type of painted male we found that blue-painted males and the unpainted males housed in the same cages experienced lower rates of harassment than males housed in cages where some males were painted black, suggesting that a single, reliable signal of unprofitability may benefit the individuals that carry it. While our results do not in themselves demonstrate that sexual colour dimorphism originally evolved as an intra-specific warning signal, they do show that harassment is influenced by coloration, and that such selection could conceivably maintain male coloration as a warning signal. PMID:26587979

  14. Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.

    PubMed

    Mosley, Jonathan D; Van Driest, Sara L; Larkin, Emma K; Weeke, Peter E; Witte, John S; Wells, Quinn S; Karnes, Jason H; Guo, Yan; Bastarache, Lisa; Olson, Lana M; McCarty, Catherine A; Pacheco, Jennifer A; Jarvik, Gail P; Carrell, David S; Larson, Eric B; Crosslin, David R; Kullo, Iftikhar J; Tromp, Gerard; Kuivaniemi, Helena; Carey, David J; Ritchie, Marylyn D; Denny, Josh C; Roden, Dan M

    2013-01-01

    A single mutation can alter cellular and global homeostatic mechanisms and give rise to multiple clinical diseases. We hypothesized that these disease mechanisms could be identified using low minor allele frequency (MAF<0.1) non-synonymous SNPs (nsSNPs) associated with "mechanistic phenotypes", comprised of collections of related diagnoses. We studied two mechanistic phenotypes: (1) thrombosis, evaluated in a population of 1,655 African Americans; and (2) four groupings of cancer diagnoses, evaluated in 3,009 white European Americans. We tested associations between nsSNPs represented on GWAS platforms and mechanistic phenotypes ascertained from electronic medical records (EMRs), and sought enrichment in functional ontologies across the top-ranked associations. We used a two-step analytic approach whereby nsSNPs were first sorted by the strength of their association with a phenotype. We tested associations using two reverse genetic models and standard additive and recessive models. In the second step, we employed a hypothesis-free ontological enrichment analysis using the sorted nsSNPs to identify functional mechanisms underlying the diagnoses comprising the mechanistic phenotypes. The thrombosis phenotype was solely associated with ontologies related to blood coagulation (Fisher's p?=?0.0001, FDR p?=?0.03), driven by the F5, P2RY12 and F2RL2 genes. For the cancer phenotypes, the reverse genetics models were enriched in DNA repair functions (p?=?2×10-5, FDR p?=?0.03) (POLG/FANCI, SLX4/FANCP, XRCC1, BRCA1, FANCA, CHD1L) while the additive model showed enrichment related to chromatid segregation (p?=?4×10-6, FDR p?=?0.005) (KIF25, PINX1). We were able to replicate nsSNP associations for POLG/FANCI, BRCA1, FANCA and CHD1L in independent data sets. Mechanism-oriented phenotyping using collections of EMR-derived diagnoses can elucidate fundamental disease mechanisms. PMID:24349080

  15. Phenotypic divergence in two lines of L-Fabp-/- mice reflects substrain differences and environmental modifiers.

    PubMed

    Newberry, Elizabeth P; Kennedy, Susan; Xie, Yan; Luo, Jianyang; Jiang, Hui; Ory, Daniel S; Davidson, Nicholas O

    2015-10-15

    Phenotypic divergence in diet-induced obesity (DIO) and hepatic steatosis has been reported in two independently generated lines of L-Fabp(-/-) mice [New Jersey (NJ) L-Fabp(-/-) vs. Washington University (WU) L-Fabp(-/-) mice]. We performed side-by-side studies to examine differences between the lines and investigate the role of genetic background, intestinal microbiota, sex, and diet in the divergent phenotypes. Fasting-induced steatosis was attenuated in both L-Fabp(-/-) lines compared with C57BL/6J controls, with restoration of hepatic triglyceride levels following adenoviral L-Fabp rescue. Both lines were protected against DIO after high-saturated-fat diet feeding. Hepatic steatosis was attenuated in WU but not NJ L-Fabp(-/-) mice, although this difference between the lines disappeared upon antibiotic treatment and cohousing. In contrast, there was phenotypic divergence in L-Fabp(-/-) mice fed a high cocoa butter fat diet, with WU L-Fabp(-/-) mice, but not NJ L-Fabp(-/-) mice, showing protection against both DIO and hepatic steatosis, with some sex-dependent (female > male) differences. Dense mapping revealed no evidence of unintended targeting, duplications, or deletions surrounding the Fabp1 locus in either line and only minor differences in mRNA expression of genes located near the targeted allele. However, a C57BL/6 substrain screen showed that the NJ L-Fabp(-/-) line contains ?40% C57BL/6N genomic DNA, despite reports that these mice were backcrossed six generations. Overall, these findings suggest that some of the phenotypic divergence between the two L-Fabp(-/-) lines may reflect unanticipated differences in genetic background, underscoring the importance of genetic background in phenotypic characterization. PMID:26251469

  16. The evolution of sexually antagonistic phenotypes.

    PubMed

    Perry, Jennifer C; Rowe, Locke

    2015-06-01

    Sexual conflict occurs whenever there is sexually antagonistic selection on shared traits. When shared traits result from interactions (e.g., mating rate) and have a different genetic basis in each sex (i.e., interlocus conflict), then sex-specific traits that shift the value of these interaction traits toward the sex-specific optimum will be favored. Male traits can be favored that increase the fitness of their male bearers, but decrease the fitness of interacting females. Likewise, female traits that reduce the costs of interacting with harmful males may simultaneously impose costs on males. If the evolution of these antagonistic traits changes the nature of selection acting on the opposite sex, interesting coevolutionary dynamics will result. Here we examine three current issues in the study of sexually antagonistic interactions: the female side of sexual conflict, the ecological context of sexual conflict, and the strength of evidence for sexually antagonistic coevolution. PMID:26032715

  17. The effects of graded levels of calorie restriction: IV. Non-linear change in behavioural phenotype of mice in response to short-term calorie restriction

    PubMed Central

    Lusseau, David; Mitchell, Sharon E.; Barros, Ceres; Derous, Davina; Green, Cara; Chen, Luonan; Han, Jing-Dong Jackie; Wang, Yingchun; Promislow, Daniel E. L.; Douglas, Alex; Speakman, John R.

    2015-01-01

    Animals have to adjust their activities when faced with caloric restriction (CR) to deal with reduced energy intake. If CR is pronounced, allostasis can push individuals into alternate physiological states which can result in important health benefits across a wide range of taxa. Here we developed a new approach to determine the changes in behavioural phenotype associated with different levels of CR. We exposed C57BL/6 male mice to graded CR (from 0 to 40%) for three months and defined their behavioural phenotype using hidden Markov models of their movement and body temperature. All 40% CR mice exhibited a state-shift in behavioural phenotype and only some exposed to 30% CR did. We show for the first time that mice changed their activity characteristics rather than changed their activities. This new phenotyping approach provides an avenue to determine the mechanisms linking CR to healthspan. PMID:26306002

  18. The effects of graded levels of calorie restriction: IV. Non-linear change in behavioural phenotype of mice in response to short-term calorie restriction.

    PubMed

    Lusseau, David; Mitchell, Sharon E; Barros, Ceres; Derous, Davina; Green, Cara; Chen, Luonan; Han, Jing-Dong Jackie; Wang, Yingchun; Promislow, Daniel E L; Douglas, Alex; Speakman, John R

    2015-01-01

    Animals have to adjust their activities when faced with caloric restriction (CR) to deal with reduced energy intake. If CR is pronounced, allostasis can push individuals into alternate physiological states which can result in important health benefits across a wide range of taxa. Here we developed a new approach to determine the changes in behavioural phenotype associated with different levels of CR. We exposed C57BL/6 male mice to graded CR (from 0 to 40%) for three months and defined their behavioural phenotype using hidden Markov models of their movement and body temperature. All 40% CR mice exhibited a state-shift in behavioural phenotype and only some exposed to 30% CR did. We show for the first time that mice changed their activity characteristics rather than changed their activities. This new phenotyping approach provides an avenue to determine the mechanisms linking CR to healthspan. PMID:26306002

  19. High-field magnetization of heusler alloys Fe2 XY ( X = Ti, V, Cr, Mn, Fe, Co, Ni; Y = Al, Si)

    NASA Astrophysics Data System (ADS)

    Kourov, N. I.; Marchenkov, V. V.; Korolev, A. V.; Belozerova, K. A.; Weber, H. W.

    2015-10-01

    The magnetization curves of ferromagnetic Heusler alloys Fe2 XY (where X = Ti, V, Cr, Mn, Fe, Co, Ni are transition 3 d elements and Y = Al, Si are the s and p elements of the third period of the Periodic Table) have been measured at T = 4.2 K in the field range H ? 70 kOe. It has been shown that the high-field ( H ? 20 kOe) magnetization is described within the Stoner model.

  20. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY, del(2)(q37)

    SciTech Connect

    Wang, T.H.; Johnston, K.; Hsieh, C.L.; Dennery, P.A.

    1994-02-15

    The authors present a premature newborn boy with multiple congenital anomalies, including craniofacial anomalies, syndactyly, cardiac defects, and a horseshoe kidney associated with terminal deletion of 2q. The infant`s karyotype was 46,XY,del(2)(q37). Clinical, cytogenetic, and autopsy findings are presented in this report. Clinical manifestations in this infant are compared with those four other known patients with terminal deletion of chromosome 2. 5 refs., 1 fig., 1 tab.

  1. Urinary Retention, Incontinence, and Dysregulation of Muscarinic Receptors in Male Mice Lacking Mras

    PubMed Central

    Ehrhardt, Annette; Wang, Bin; Yung, Andrew C.; Wang, Yanni; Kozlowski, Piotr; van Breemen, Cornelis; Schrader, John W.

    2015-01-01

    Here we show that male, but not female mice lacking expression of the GTPase M-Ras developed urinary retention with distention of the bladder that exacerbated with age but occurred in the absence of obvious anatomical outlet obstruction. There were changes in detrusor morphology in Mras-/- males: Smooth muscle tissue, which exhibited a compact organization in WT mice, appeared disorganized and became increasingly ‘layered’ with age in Mras-/- males, but was not fibrotic. Bladder tissue near the apex of bladders of Mras-/- males exhibited hypercontractility in response to the cholinergic agonist carbachol in in vitro, while responses in Mras-/- females were normal. In addition, spontaneous phasic contractions of detrusors from Mras-/- males were increased, and Mras-/- males exhibited urinary incontinence. We found that expression of the muscarinic M2 and M3 receptors that mediate the cholinergic contractile stimuli of the detrusor muscle was dysregulated in both Mras-/- males and females, although only males exhibited a urinary phenotype. Elevated expression of M2R in young males lacking M-Ras and failure to upregulate M3R with age resulted in significantly lower ratios of M3R/M2R expression that correlated with the bladder abnormalities. Our data suggests that M-Ras and M3R are functionally linked and that M-Ras is an important regulator of male bladder control in mice. Our observations also support the notion that bladder control is sexually dimorphic and is regulated through mechanisms that are largely independent of acetylcholine signaling in female mice. PMID:26516777

  2. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

    PubMed

    Köhler, Sebastian; Doelken, Sandra C; Mungall, Christopher J; Bauer, Sebastian; Firth, Helen V; Bailleul-Forestier, Isabelle; Black, Graeme C M; Brown, Danielle L; Brudno, Michael; Campbell, Jennifer; FitzPatrick, David R; Eppig, Janan T; Jackson, Andrew P; Freson, Kathleen; Girdea, Marta; Helbig, Ingo; Hurst, Jane A; Jähn, Johanna; Jackson, Laird G; Kelly, Anne M; Ledbetter, David H; Mansour, Sahar; Martin, Christa L; Moss, Celia; Mumford, Andrew; Ouwehand, Willem H; Park, Soo-Mi; Riggs, Erin Rooney; Scott, Richard H; Sisodiya, Sanjay; Van Vooren, Steven; Wapner, Ronald J; Wilkie, Andrew O M; Wright, Caroline F; Vulto-van Silfhout, Anneke T; de Leeuw, Nicole; de Vries, Bert B A; Washingthon, Nicole L; Smith, Cynthia L; Westerfield, Monte; Schofield, Paul; Ruef, Barbara J; Gkoutos, Georgios V; Haendel, Melissa; Smedley, Damian; Lewis, Suzanna E; Robinson, Peter N

    2014-01-01

    The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% of all HPO classes using terms from ontologies for anatomy, cell types, function, embryology, pathology and other domains. This allows interoperability with several resources, especially those containing phenotype information on model organisms such as mouse and zebrafish. Here we describe the updated HPO database, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO. Various meta-attributes such as frequency, references and negations are associated with each annotation. Several large-scale projects worldwide utilize the HPO for describing phenotype information in their datasets. We have therefore generated equivalence mappings to other phenotype vocabularies such as LDDB, Orphanet, MedDRA, UMLS and phenoDB, allowing integration of existing datasets and interoperability with multiple biomedical resources. We have created various ways to access the HPO database content using flat files, a MySQL database, and Web-based tools. All data and documentation on the HPO project can be found online. PMID:24217912

  3. Phenotyping Drought Tolerance in Cotton (Gossypium hirsutum, L.) 

    E-print Network

    Terhune, Austin Cates

    2014-04-30

    Cotton plant breeders need well-defined phenotypic parameters by which they can select drought tolerant lines as well as correlate phenotypes to allelic polymorphisms in the cotton genome. Soil-moisture availability is ...

  4. The dynamics of male-male competition in Cardiocondyla obscurior ants

    PubMed Central

    2012-01-01

    Background The outcome of male-male competition can be predicted from the relative fighting qualities of the opponents, which often depend on their age. In insects, freshly emerged and still sexually inactive males are morphologically indistinct from older, sexually active males. These young inactive males may thus be easy targets for older males if they cannot conceal themselves from their attacks. The ant Cardiocondyla obscurior is characterised by lethal fighting between wingless (“ergatoid”) males. Here, we analyse for how long young males are defenceless after eclosion, and how early adult males can detect the presence of rival males. Results We found that old ergatoid males consistently won fights against ergatoid males younger than two days. Old males did not differentiate between different types of unpigmented pupae several days before emergence, but had more frequent contact to ready-to-eclose pupae of female sexuals and winged males than of workers and ergatoid males. In rare cases, old ergatoid males displayed alleviated biting of pigmented ergatoid male pupae shortly before adult eclosion, as well as copulation attempts to dark pupae of female sexuals and winged males. Ergatoid male behaviour may be promoted by a closer similarity of the chemical profile of ready-to-eclose pupae to the profile of adults than that of young pupae several days prior to emergence. Conclusion Young ergatoid males of C. obscurior would benefit greatly by hiding their identity from older, resident males, as they are highly vulnerable during the first two days of their adult lives. In contrast to the winged males of the same species, which are able to prevent ergatoid male attacks by chemical female mimicry, young ergatoids do not seem to be able to produce a protective chemical profile. Conflicts in male-male competition between ergatoid males of different age thus seem to be resolved in favour of the older males. This might represent selection at the colony level rather than the individual level. PMID:22703760

  5. SuhB is a novel ribosome associated protein that regulates expression of MexXY by modulating ribosome stalling in Pseudomonas aeruginosa.

    PubMed

    Shi, Jing; Jin, Yongxin; Bian, Ting; Li, Kewei; Sun, Ziyu; Cheng, Zhihui; Jin, Shouguang; Wu, Weihui

    2015-10-01

    Translation elongation is modulated by various ribosome-binding proteins. Environmental stresses, such as starvation and antibiotics, can cause stalling of bacterial ribosomes, which may alter gene expression through a transcription or translation attenuation mechanism. In Pseudomonas aeruginosa, the expression of MexXY multidrug efflux system, which plays a significant role in resistance against aminoglycoside antibiotics, is controlled by a translation surveillance mechanism. Stalling of ribosome at the PA5471 leader peptide (PA5471.1) mRNA leads to transcription of PA5471, which subsequently up-regulates the expression of MexXY. In this study, we found that mutation in a suhB gene leads to decreased susceptibility to aminoglycosides. Transcriptomic analysis revealed an up-regulation of MexXY and PA5471, which were demonstrated to be responsible for the decreased susceptibility of the suhB mutant. We further demonstrated that PA5471.1 is essential for the up-regulation of PA5471 in the suhB mutant. Co-immunoprecipitation assay revealed an interaction between SuhB and ribosome, suggesting a role of SuhB in translation. Indeed, higher amount of PA5471.1 mRNA was found to associate with ribosome isolated from the suhB mutant, indicating increased ribosome stalling. Therefore, this study identified SuhB as a novel ribosome associated protein that is involved in modulating ribosome activity. PMID:26179141

  6. Critical behavior of spin and chiral degrees of freedom in three-dimensional disordered XY models studied by the nonequilibrium aging method

    NASA Astrophysics Data System (ADS)

    Romá, F.; Domínguez, D.

    2014-01-01

    The critical behavior of the gauge-glass and the XY spin-glass models in three dimensions is studied by analyzing their nonequilibrium aging dynamics. A new numerical method, which relies on the calculation of the two-time correlation and integrated response functions, is used to determine both the critical temperature and the nonequilibrium scaling exponents, both for spin and chiral degrees of freedom. First, the ferromagnetic XY model is studied to validate this nonequilibirum aging method (NAM) since for this nondisordered system we can compare with known results obtained with standard equilibrium and nonequilibrium techniques. When applied to the case of the gauge-glass model, we show that the NAM allows us to obtain precise and reliable values of its critical quantities, improving previous estimates. The XY spin-glass model with both Gaussian and bimodal bond distributions is analyzed in more detail. The spin and the chiral two-time correlation and integrated response functions are calculated in our simulations. The results obtained mainly for Gaussian and, to a lesser extent, for bimodal interactions support the existence of a spin-chiral decoupling scenario, where the chiral order occurs at a finite temperature while the spin degrees of freedom order at very low or zero temperature.

  7. Nutrition-dependent phenotypes affect sexual selection in a ladybird

    PubMed Central

    Xie, Jiaqin; De Clercq, Patrick; Zhang, Yuhong; Wu, Hongsheng; Pan, Chang; Pang, Hong

    2015-01-01

    Environmental factors play a crucial role in influencing sexual selection in insects and the evolution of their mating systems. Although it has been reported that sexual selection in insects may change in response to varying environments, the reason for these changes remains poorly understood. Here, we focus on the mate selection process of a ladybird, Cryptolaemus montrouzieri, when experiencing low- and high-nutrition diet regimes both in its larval and adult stages. We found that female ladybirds preferred to mate with males reared under high-nutrition diet regimes, regardless of the nutritional conditions they experienced during their own larval stages, indicating that mate choice of female C. montrouzieri is non-random and phenotype-dependent. Such mate choice may depend on visual cues (body or genitalia size) and/or chemical cues (pheromones). Further, females from high-nutrition larval diet regimes produced more eggs than those from low-nutrition larval diet regimes. In addition, diet regimes during adulthood also exerted strong effects on egg production. In summary, our study provides new insight into the mate choice of C. montrouzieri as affected by seasonal changes in resources, and suggests that food availability may be a driving force in mate choice. PMID:26269214

  8. Nutrition-dependent phenotypes affect sexual selection in a ladybird.

    PubMed

    Xie, Jiaqin; De Clercq, Patrick; Zhang, Yuhong; Wu, Hongsheng; Pan, Chang; Pang, Hong

    2015-01-01

    Environmental factors play a crucial role in influencing sexual selection in insects and the evolution of their mating systems. Although it has been reported that sexual selection in insects may change in response to varying environments, the reason for these changes remains poorly understood. Here, we focus on the mate selection process of a ladybird, Cryptolaemus montrouzieri, when experiencing low- and high-nutrition diet regimes both in its larval and adult stages. We found that female ladybirds preferred to mate with males reared under high-nutrition diet regimes, regardless of the nutritional conditions they experienced during their own larval stages, indicating that mate choice of female C. montrouzieri is non-random and phenotype-dependent. Such mate choice may depend on visual cues (body or genitalia size) and/or chemical cues (pheromones). Further, females from high-nutrition larval diet regimes produced more eggs than those from low-nutrition larval diet regimes. In addition, diet regimes during adulthood also exerted strong effects on egg production. In summary, our study provides new insight into the mate choice of C. montrouzieri as affected by seasonal changes in resources, and suggests that food availability may be a driving force in mate choice. PMID:26269214

  9. [Leber's hereditary optic neuropathy - phenotype, genetics, therapeutic options].

    PubMed

    Gallenmüller, C; Klopstock, T

    2014-03-01

    Leber's hereditary optic neuropathy is a rare genetic disorder affecting the retinal ganglion cells leading to a persistent severe bilateral loss of visual acuity within weeks or months. Males are much more likely to be affected than females, disease onset in most cases takes place between age 15 and 35 years. The disease is caused by point mutations in the mitochondrial DNA. The penetrance of the disease is incomplete, i.e., not all mutation carriers develop clinical symptoms. The phenotype is relatively uniform, but age at onset, severity and prognosis may vary even within the same family. Environmental and endocrine factors, optic disc anatomy as well as mitochondrial and nuclear genetic factors are discussed to influence penetrance as well as interindividual and intrafamilial variability. However, only cigarette smoking and excessive alcohol consumption have been shown to trigger disease onset. The disease is characterised by a central visual field defect, impaired colour vision and fundoscopically a peripapillary microangiopathy in the acute phase. Most patients end up after some months with a severe visual loss below 0.1 and in most cases there is no significant improvement of visual acuity in the course. In rare cases patients experience a mostly partial visual recovery which depends on the type of mutation. For confirmation of the diagnosis a detailed ophthalmological examination with fundoscopy, family history and genetic analysis of the mitochondrial DNA is needed. To date, there is no proven causal therapy, but at early disease stages treatment with idebenone can be tried. PMID:24658858

  10. FOXP1 mutations cause intellectual disability and a recognizable phenotype.

    PubMed

    Le Fevre, Anna K; Taylor, Sharelle; Malek, Neva H; Horn, Denise; Carr, Christopher W; Abdul-Rahman, Omar A; O'Donnell, Sherindan; Burgess, Trent; Shaw, Marie; Gecz, Jozef; Bain, Nicole; Fagan, Kerry; Hunter, Matthew F

    2013-12-01

    Mutations in FOXP1, located at 3p13, have been reported in patients with global developmental delay (GDD), intellectual disability (ID), and speech defects. Mutations in FOXP2, located at 7q31, are well known to cause developmental speech and language disorders, particularly developmental verbal dyspraxia (DVD). FOXP2 has been shown to work co-operatively with FOXP1 in mouse development. An overlap in FOXP1 and FOXP2 expression, both in the songbird and human fetal brain, has suggested that FOXP1 may also have a role in speech and language disorders. We report on a male child with a 0.19 MB intragenic deletion that is predicted to result in haploinsufficiency of FOXP1. Review of our patient and others reported in the literature reveals an emerging phenotype of GDD/ID with moderate to severe speech delay where expressive speech is most severely affected. DVD appears not to be a distinct feature in this group. Facial features include a broad forehead, downslanting palpebral fissures, a short nose with broad tip, relative or true macrocephaly, a frontal hair upsweep and prominent digit pads. Autistic traits and other behavioral problems are likely to be associated with haploinsufficiency of FOXP1. Congenital malformations may be associated. PMID:24214399

  11. Evolution of DMY, a newly emergent male sex-determination gene of medaka fish.

    PubMed Central

    Zhang, Jianzhi

    2004-01-01

    The Japanese medaka fish Oryzias latipes has an XX/XY sex-determination system. The Y-linked sex-determination gene DMY is a duplicate of the autosomal gene DMRT1, which encodes a DM-domain-containing transcriptional factor. DMY appears to have originated recently within Oryzias, allowing a detailed evolutionary study of the initial steps that led to the new gene and new sex-determination system. Here I analyze the publicly available DMRT1 and DMY gene sequences of Oryzias species and report the following findings. First, the synonymous substitution rate in DMY is 1.73 times that in DMRT1, consistent with the male-driven evolution hypothesis. Second, the ratio of the rate of nonsynonymous nucleotide substitution (d(N)) to that of synonymous substitution (d(S)) is significantly higher in DMY than in DMRT1. Third, in DMRT1, the d(N)/d(S) ratio for the DM domain is lower than that for non-DM regions, as expected from the functional importance of the DM domain. But in DMY, the opposite is observed and the DM domain is likely under positive Darwinian selection. Fourth, only one characteristic amino acid distinguishes all DMY sequences from all DMRT1 sequences, suggesting that a single amino acid change may be largely responsible for the establishment of DMY as the male sex-determination gene in medaka fish. PMID:15126406

  12. The hazardous effects of tobacco smoking on male fertility.

    PubMed

    Dai, Jing-Bo; Wang, Zhao-Xia; Qiao, Zhong-Dong

    2015-01-01

    The substantial harmful effects of tobacco smoking on fertility and reproduction have become apparent but are not generally appreciated. Tobacco smoke contains more than 4000 kinds of constituents, including nicotine, tar, carbonic monoxide, polycyclic aromatic hydrocarbons, and heavy metals. Because of the complexity of tobacco smoke components, the toxicological mechanism is notably complicated. Most studies have reported reduced semen quality, reproductive hormone system dysfunction and impaired spermatogenesis, sperm maturation, and spermatozoa function in smokers compared with nonsmokers. Underlying these effects, elevated oxidative stress, DNA damage, and cell apoptosis may play important roles collaboratively in the overall effect of tobacco smoking on male fertility. In this review, we strive to focus on both the phenotype of and the molecular mechanism underlying these harmful effects, although current studies regarding the mechanism remain insufficient. PMID:25851659

  13. Microanatomy and Development of the Dwarf Male of Symbion pandora (Phylum Cycliophora): New Insights from Ultrastructural Investigation Based on Serial Section Electron Microscopy

    PubMed Central

    Neves, Ricardo Cardoso; Reichert, Heinrich

    2015-01-01

    Cycliophorans have a complex life cycle that involves several sexual and asexual stages. One of the sexual stages is the 40 ?m-long dwarf male, which is among the smallest free-living metazoans. Although the dwarf male has a highly complex body plan, this minute organism is composed of a very low number of somatic cells (~50). The developmental processes that give rise to this unique phenotype are largely unknown. Here we use high resolution serial block face—scanning electron microscopy to analyze the anatomy and morphogenesis of three cycliophoran dwarf males at different developmental stages ranging from internal bud to mature male. The anatomical and morphological features of the mature dwarf male stage reported here largely correspond to those reported in earlier studies. Interestingly, the organs that typically characterize the anatomy of the mature dwarf male, e.g., muscles, brain, testis and glands, are already formed in the young male. However, there are striking differences between the mature male and young male stages at the level of cellular architecture. Thus, while the young male stage, like the internal bud stage, possesses approximately 200 nucleated cells, the mature male stage comprises only around 50 nucleated cells; muscle and epidermal cells of the mature male lack nuclei. Moreover, the total body volume of the mature male is only 63% of the body of the young male implying that the maturation of the young male into a mature male involves a marked reduction of internal body volume, mainly by massive nuclei loss. Our comparative analysis of these dwarf male specimens reveals unprecedented insight into the striking morphological and developmental differences that characterize these highly miniaturized male stages both at the level of body organization and at the level of cellular ultrastructure. PMID:25875482

  14. Hypercholesterolemia induces side-specific phenotype changes and PPAR&[gamma] pathway activation in swine aortic valve endothelium

    PubMed Central

    Guerraty, Marie A.; Grant, Gregory R.; Karanian, John W.; Chiesa, Oscar A.; Pritchard, William F.; Davies, Peter F.

    2010-01-01

    Background The endothelium of normal aortic valves expresses different phenotypes on the aortic and ventricular sides. On the aortic side, which is susceptible to aortic valve sclerosis (AVS), there is a balanced co-expression of both pro-pathological and protective pathways. Side-specific global gene expression can address endothelial phenotype balance in early AVS. Methods and Results Adult male swine were fed a hypercholesterolemic (HC) or an isocaloric normal diet for 2-week and 6-month periods. HC induced localized lipid insudation confined to the aortic side of the leaflet. Transcript profiling of valve endothelial populations showed that the susceptible aortic side was more sensitive to 2-weeks hypercholesterolemia than the ventricular side (1325 vs 87 genes differentially expressed). Greater sensitivity, however, was not evidence of dysfunctional phenotype. Instead, pathway analyses identified differential expression of caspase3-, PPAR&[gamma], TNF&[alpha]-, and NF&[kappa]B-related pathways that were consistent with a protective endothelial phenotype; this was confirmed at the protein level at 2 weeks and persisted at 6 months. Conclusions In a large animal model at high spatial resolution, endothelium on the patho-susceptible side of the aortic valve leaflet is responsive to hypercholesterolemia. Transcript profiles indicative of a protective phenotype were induced and persisted on the side prone to AVS. PMID:19926833

  15. Male-male competition and large size mating advantage in European earwigs, Forficula auricularia.

    PubMed

    Forslund

    2000-04-01

    European earwigs are sexually dimorphic in forceps shape and length. Male forceps are thought to be weapons in male contests for access to females, but recent findings suggest that females choose males on the basis of their forceps length. I investigated sexual selection on forceps length and body size and the occurrence of male-male competition. When I controlled for forceps length experimentally and statistically, relatively heavy males had greater copulation success than relatively light males. When I controlled for body size, males with relatively longer forceps had no tendency for greater copulation success than males with shorter forceps. Relatively heavy males more often took over copulations from smaller males than vice versa. Male contests were important for the outcome of mate competition, as males commonly interrupted and took over copulations. My results therefore suggest that intrasexual selection is significant in competition for copulations in male earwigs, and acts on body size. This contrasts with previous findings, which have shown intersexual selection on forceps length to be important. However, both modes of sexual selection may be acting through a two-stage process, where male-male competition first determines which males have access to females, and then through female choice among available males. Morphological measurements supported the conclusion that forceps length and body size are male secondary sexual characters, as these characters had large variance and skewed distributions in males, but were normally distributed in females. Copyright 2000 The Association for the Study of Animal Behaviour. PMID:10792930

  16. THEORETICAL ARTICLE Cell division curtails helper phenotype plasticity

    E-print Network

    de Boer, Rob J.

    type 1 (Th1) and type 2 (Th2) cells, we find that the intracellular molecular network allows a cell devel- opment. Helper T lymphocytes can adopt various phenotypes such as T helper type 1 (Th1), type 2 helper T cells may adopt their different phenotypes. For each cytokine phenotype, for example, T helper

  17. Social Cognition, Social Skill, and the Broad Autism Phenotype

    ERIC Educational Resources Information Center

    Sasson, Noah J.; Nowlin, Rachel B.; Pinkham, Amy E.

    2013-01-01

    Social-cognitive deficits differentiate parents with the "broad autism phenotype" from non-broad autism phenotype parents more robustly than other neuropsychological features of autism, suggesting that this domain may be particularly informative for identifying genetic and brain processes associated with the phenotype. The current study…

  18. Bayesian causal phenotype network incorporating genetic variation and biological knowledge

    E-print Network

    Yandell, Brian S.

    to improve the inference of causal phenotype networks. Genetic variation information in a segregating genetic architectures may compromise the inference of causal relationships among phenotypes. To address this issue, several researchers [16,17] proposed to jointly infer causal phenotype networks and genetic

  19. Molecular Correlates of Genes Exhibiting RNAi Phenotypes in Caenorhabditis elegans

    E-print Network

    Good, Jeffrey M.

    . For example, the particularly low rate of evolution of genes in the sterility RNAi phenotype class suggests expect future RNAi studies to reveal phenotypic effects (i.e., false negatives in present screens of molecular evolution, to phenotypic traits for the C. elegans genome. Because proteins are the active

  20. New genes as drivers of phenotypic evolution

    PubMed Central

    Chen, Sidi; Krinsky, Benjamin H.; Long, Manyuan

    2014-01-01

    During the course of evolution, genomes acquire novel genetic elements as sources of functional and phenotypic diversity, including new genes that originated in recent evolution. In the past few years, substantial progress has been made in understanding the evolution and phenotypic effects of new genes. In particular, an emerging picture is that new genes, despite being present in the genomes of only a subset of species, can rapidly evolve indispensable roles in fundamental biological processes, including development, reproduction, brain function and behaviour. The molecular underpinnings of how new genes can develop these roles are starting to be characterized. These recent discoveries yield fresh insights into our broad understanding of biological diversity at refined resolution. PMID:23949544

  1. Homosexual behaviour increases male attractiveness to females.

    PubMed

    Bierbach, David; Jung, Christian T; Hornung, Simon; Streit, Bruno; Plath, Martin

    2013-02-23

    Male homosexual behaviour-although found in most extant clades across the Animal Kingdom-remains a conundrum, as same-sex mating should decrease male reproductive fitness. In most species, however, males that engage in same-sex sexual behaviour also mate with females, and in theory, same-sex mating could even increase male reproductive fitness if males improve their chances of future heterosexual mating. Females regularly use social information to choose a mate; e.g. male attractiveness increases after a male has interacted sexually with a female (mate choice copying). Here, we demonstrate that males of the tropical freshwater fish Poecilia mexicana increase their attractiveness to females not only by opposite-sex, but likewise, through same-sex interactions. Hence, direct benefits for males of exhibiting homosexual behaviour may help explain its occurrence and persistence in species in which females rely on mate choice copying as one component of mate quality assessment. PMID:23234866

  2. Male reprotoxicity and endocrine disruption

    PubMed Central

    Campion, Sarah; Catlin, Natasha; Heger, Nicholas; McDonnell, Elizabeth V.; Pacheco, Sara E.; Saffarini, Camelia; Sandrof, Moses A.; Boekelheide, Kim

    2013-01-01

    Mammalian reproductive tract development is a tightly regulated process that can be disrupted following exposure to drugs, toxicants, endocrine disrupting chemicals or other compounds via alterations to gene and protein expression or epigenetic regulation. Indeed, the impacts of developmental exposure to certain toxicants may not be fully realized until puberty or adulthood when the reproductive tract becomes sexually mature and altered functionality is manifested. Exposures that occur later in life, once development is complete, can also disrupt the intricate hormonal and paracrine interactions responsible for adult functions, such as spermatogenesis. In this chapter, the biology and toxicology of the male reproductive tract is explored, proceeding through the various life stages including in utero development, puberty, adulthood and senescence. Special attention is given to the discussion of endocrine disrupting chemicals, chemical mixtures, low dose effects, transgenerational effects, and potential exposure-related causes of male reproductive tract cancers. PMID:22945574

  3. Male vs. female mediated teratogenesis

    SciTech Connect

    Manson, J.M.

    1982-04-01

    Different types of reproductive dysfunction with exposure of males and females during different stages of the reproductive process were correlated. It is a well-established principle that teratogenic exposure of the pregnant female, and thus of the embryo, during the organogenesis period of development can lead to birth defects in the offspring. The outcome of this exposure paradigm, as well as the outcomes associated with exposure during other stages of the reproductive process that have received less experimental attention are discussed. Insult to the germ cells of the male during spermatogenesis and to the female during oogenesis can also lead to reproductive dysfunction. The type of adverse outcome, however, is quite different from that occurring with embryonic exposure during the organogenesis period. An overview of this area will be given with the intent of focusing on those types of reproductive dysfunction that are most relevant to environmental exposure of men and women.

  4. The electronic and optical properties of quaternary GaAs1-x-y N x Bi y alloy lattice-matched to GaAs: a first-principles study

    PubMed Central

    2014-01-01

    First-principles calculations based on density functional theory have been performed for the quaternary GaAs1-x-y N x Bi y alloy lattice-matched to GaAs. Using the state-of-the-art computational method with the Heyd-Scuseria-Ernzerhof (HSE) hybrid functional, electronic, and optical properties were obtained, including band structures, density of states (DOSs), dielectric function, absorption coefficient, refractive index, energy loss function, and reflectivity. It is found that the lattice constant of GaAs1-x-y N x Bi y alloy with y/x =1.718 can match to GaAs. With the incorporation of N and Bi into GaAs, the band gap of GaAs1-x-y N x Bi y becomes small and remains direct. The calculated optical properties indicate that GaAs1-x-y N x Bi y has higher optical efficiency as it has less energy loss than GaAs. In addition, it is also found that the electronic and optical properties of GaAs1-x-y N x Bi y alloy can be further controlled by tuning the N and Bi compositions in this alloy. These results suggest promising applications of GaAs1-x-y N x Bi y quaternary alloys in optoelectronic devices. PMID:25337061

  5. Using ontologies to describe mouse phenotypes

    PubMed Central

    Gkoutos, Georgios V; Green, Eain CJ; Mallon, Ann-Marie; Hancock, John M; Davidson, Duncan

    2005-01-01

    The mouse is an important model of human genetic disease. Describing phenotypes of mutant mice in a standard, structured manner that will facilitate data mining is a major challenge for bioinformatics. Here we describe a novel, compositional approach to this problem which combines core ontologies from a variety of sources. This produces a framework with greater flexibility, power and economy than previous approaches. We discuss some of the issues this approach raises. PMID:15642100

  6. Male Investments in High Quality Sperm Improve Fertilization Success, but May Have Negative Impact on Offspring Fitness in Whitefish

    PubMed Central

    Kekäläinen, Jukka; Soler, Carles; Veentaus, Sami; Huuskonen, Hannu

    2015-01-01

    Many ejaculate traits show remarkable variation in relation to male social status. Males in disfavoured (subordinate) mating positions often invest heavily on sperm motility but may have less available resources on traits (e.g., secondary sexual ornaments) that improve the probability of gaining matings. Although higher investments in sperm motility can increase the relative fertilization success of subordinate males, it is unclear whether status-dependent differences in sperm traits could have any consequences for offspring fitness. We tested this possibility in whitefish (Coregonus lavaretus L.) by experimentally fertilizing the eggs of 24 females with the sperm of either highly-ornamented (large breeding tubercles, dominant) or less-ornamented (small tubercles, subordinate) males (split-clutch breeding design). In comparison to highly-ornamented individuals, less-ornamented males had higher sperm motility, which fertilized the eggs more efficiently, but produced embryos with impaired hatching success. Also offspring size and body condition were lower among less-ornamented males. Furthermore, sperm motility was positively associated with the fertilization success and offspring size, but only in highly-ornamented males. Together our results indicate that male investments on highly motile (fertile) sperm is not necessarily advantageous during later offspring ontogeny and that male status-dependent differences in sperm phenotype may have important effects on offspring fitness in different life-history stages. PMID:26389594

  7. Asthma phenotypes and IgE responses.

    PubMed

    Froidure, Antoine; Mouthuy, Jonathan; Durham, Stephen R; Chanez, Pascal; Sibille, Yves; Pilette, Charles

    2016-01-01

    The discovery of IgE represented a major breakthrough in allergy and asthma research, whereas the clinical interest given to IgE in asthma has been blurred until the arrival of anti-IgE biotherapy. Novel facets of the complex link between IgE and asthma have been highlighted by the effect of this treatment and by basic research. In parallel, asthma phenotyping recently evolved to the concept of endotypes, relying on identified/suspected pathobiological mechanisms to phenotype patients, but has not yet clearly positioned IgE among biomarkers of asthma.In this review, we first summarise recent knowledge about the regulation of IgE production and its main receptor, Fc?RI. In addition to allergens acting as classical IgE inducers, viral infections as well as air pollution may trigger the IgE pathway, notably resetting the threshold of IgE sensitivity by regulating Fc?RI expression. We then analyse the place of IgE in different asthma endo/phenotypes and discuss the potential interest of IgE among biomarkers in asthma. PMID:26677936

  8. Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia.

    PubMed

    Benussi, Alberto; Padovani, Alessandro; Borroni, Barbara

    2015-01-01

    Frontotemporal dementia (FTD) is a genetically and pathologically heterogeneous disorder characterized by personality changes, language impairment, and deficits of executive functions associated with frontal and temporal lobe degeneration. Different phenotypes have been defined on the basis of presenting clinical symptoms, i.e., the behavioral variant of FTD, the agrammatic variant of primary progressive aphasia, and the semantic variant of PPA. Some patients have an associated movement disorder, either parkinsonism, as in progressive supranuclear palsy and corticobasal syndrome, or motor neuron disease (FTD-MND). A family history of dementia is found in 40% of cases of FTD and about 10% have a clear autosomal-dominant inheritance. Genetic studies have identified several genes associated with monogenic FTD: microtubule-associated protein tau, progranulin, TAR DNA-binding protein 43, valosin-containing protein, charged multivesicular body protein 2B, fused in sarcoma, and the hexanucleotide repeat expansion in intron 1 of the chromosome 9 open reading frame 72. Patients often present with an extensive phenotypic variability, even among different members of the same kindred carrying an identical disease mutation. The objective of the present work is to review and evaluate available literature data in order to highlight recent advances in clinical, biological, and neuroimaging features of monogenic frontotemporal lobar degeneration and try to identify different mechanisms underlying the extreme phenotypic heterogeneity that characterizes this disease. PMID:26388768

  9. Forbidden phenotypes and the limits of evolution.

    PubMed

    Vermeij, Geerat J

    2015-12-01

    Evolution has produced an astonishing array of organisms, but does it have limits and, if so, how are these overcome and how have they changed over the course of time? Here, I review models for describing and explaining existing diversity, and then explore parts of the evolutionary tree that remain empty. In an analysis of 32 forbidden states among eukaryotes, identified in major clades and in the three great habitat realms of water, land and air, I argue that no phenotypic constraint is absolute, that most constraints reflect a limited time-energy budget available to individual organisms, that natural selection is ultimately responsible for both imposing and overcoming constraints, including those normally ascribed to developmental patterns of construction and phylogenetic conservatism, and that increases in adaptive versatility in major clades together with accompanying new ecological opportunities have eliminated many constraints. Phenotypes that were inaccessible during the Early Palaeozoic era have evolved during later periods while very few adaptive states have disappeared. The filling of phenotypic space has proceeded cumulatively in three overlapping phases characterized by diversification at the biochemical, morphological and cultural levels. PMID:26640643

  10. Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia

    PubMed Central

    Benussi, Alberto; Padovani, Alessandro; Borroni, Barbara

    2015-01-01

    Frontotemporal dementia (FTD) is a genetically and pathologically heterogeneous disorder characterized by personality changes, language impairment, and deficits of executive functions associated with frontal and temporal lobe degeneration. Different phenotypes have been defined on the basis of presenting clinical symptoms, i.e., the behavioral variant of FTD, the agrammatic variant of primary progressive aphasia, and the semantic variant of PPA. Some patients have an associated movement disorder, either parkinsonism, as in progressive supranuclear palsy and corticobasal syndrome, or motor neuron disease (FTD–MND). A family history of dementia is found in 40% of cases of FTD and about 10% have a clear autosomal-dominant inheritance. Genetic studies have identified several genes associated with monogenic FTD: microtubule-associated protein tau, progranulin, TAR DNA-binding protein 43, valosin-containing protein, charged multivesicular body protein 2B, fused in sarcoma, and the hexanucleotide repeat expansion in intron 1 of the chromosome 9 open reading frame 72. Patients often present with an extensive phenotypic variability, even among different members of the same kindred carrying an identical disease mutation. The objective of the present work is to review and evaluate available literature data in order to highlight recent advances in clinical, biological, and neuroimaging features of monogenic frontotemporal lobar degeneration and try to identify different mechanisms underlying the extreme phenotypic heterogeneity that characterizes this disease. PMID:26388768

  11. Neurotrophins and the specification of neuronal phenotype.

    PubMed

    Lewin, G R

    1996-03-29

    Nerve growth factor, brain derived neurotrophic factor and neurotrophin-3 all influence sensory neurons derived from the dorsal root ganglia. Traditionally these neurotrophins have been thought of as survival factors for sensory neurons during their development. Recent evidence from experiments where the in vivo levels of these proteins has been manipulated indicates that they may influence the development of specific sensory neuron phenotypes. In this review these experiments are discussed in relation to the mechanisms by which neurotrophins could influence the phenotypic fate of sensory neurons. The first mechanism requires that when a neuron becomes dependent for survival on a neurotrophin the availability of the factor simply influences the number of neurons surviving with a certain modality. This model requires that neurotrophin responsiveness is a determinant of the possible modalities that the neuron may acquire. The second mechanism requires that the availability of a given neurotrophin influences how many neurons can differentiate into different sensory neuron phenotype independent of survival. The available experimental data is discussed in relation to these two models. PMID:8730778

  12. The Evolutionary Potential of Phenotypic Mutations

    PubMed Central

    Yanagida, Hayato; Gispan, Ariel; Kadouri, Noam; Rozen, Shelly; Sharon, Michal; Barkai, Naama; Tawfik, Dan S.

    2015-01-01

    Errors in protein synthesis, so-called phenotypic mutations, are orders-of-magnitude more frequent than genetic mutations. Here, we provide direct evidence that alternative protein forms and phenotypic variability derived from translational errors paved the path to genetic, evolutionary adaptations via gene duplication. We explored the evolutionary origins of Saccharomyces cerevisiae IDP3 - an NADP-dependent isocitrate dehydrogenase mediating fatty acids ß-oxidation in the peroxisome. Following the yeast whole genome duplication, IDP3 diverged from a cytosolic ancestral gene by acquisition of a C-terminal peroxisomal targeting signal. We discovered that the pre-duplicated cytosolic IDPs are partially localized to the peroxisome owing to +1 translational frameshifts that bypass the stop codon and unveil cryptic peroxisomal targeting signals within the 3’-UTR. Exploring putative cryptic signals in all 3’-UTRs of yeast genomes, we found that other enzymes related to NADPH production such as pyruvate carboxylase 1 (PYC1) might be prone to peroxisomal localization via cryptic signals. Using laboratory evolution we found that these translational frameshifts are rapidly imprinted via genetic single base deletions occurring within the very same gene location. Further, as exemplified here, the sequences that promote translational frameshifts are also more prone to genetic deletions. Thus, genotypes conferring higher phenotypic variability not only meet immediate challenges by unveiling cryptic 3’-UTR sequences, but also boost the potential for future genetic adaptations. PMID:26244544

  13. Learning probabilistic phenotypes from heterogeneous EHR data.

    PubMed

    Pivovarov, Rimma; Perotte, Adler J; Grave, Edouard; Angiolillo, John; Wiggins, Chris H; Elhadad, Noémie

    2015-12-01

    We present the Unsupervised Phenome Model (UPhenome), a probabilistic graphical model for large-scale discovery of computational models of disease, or phenotypes. We tackle this challenge through the joint modeling of a large set of diseases and a large set of clinical observations. The observations are drawn directly from heterogeneous patient record data (notes, laboratory tests, medications, and diagnosis codes), and the diseases are modeled in an unsupervised fashion. We apply UPhenome to two qualitatively different mixtures of patients and diseases: records of extremely sick patients in the intensive care unit with constant monitoring, and records of outpatients regularly followed by care providers over multiple years. We demonstrate that the UPhenome model can learn from these different care settings, without any additional adaptation. Our experiments show that (i) the learned phenotypes combine the heterogeneous data types more coherently than baseline LDA-based phenotypes; (ii) they each represent single diseases rather than a mix of diseases more often than the baseline ones; and (iii) when applied to unseen patient records, they are correlated with the patients' ground-truth disorders. Code for training, inference, and quantitative evaluation is made available to the research community. PMID:26464024

  14. Summarizing phenotype evolution patterns from report cases.

    PubMed

    Taboada, María; Alvarez, Verónica; Martínez, Diego; Pilo, Belén; Robinson, Peter N; Sobrido, María J

    2012-11-01

    The need to represent and manage time is implicit in several reasoning processes in medicine. However, this is predominantly obvious in the field of many neurodegenerative disorders, which are characterized by insidious onsets, progressive courses and variable combinations of clinical manifestations in each patient. Therefore, the availability of tools providing high level descriptions of the evolution of phenotype manifestations from patient data is crucial to promote early disease recognition and optimize the diagnostic process. Although many case reports published in the literature do not provide exhaustive temporal information except only key time references, such as disease onset, diagnosis or monitoring time, automatically comparing cases described by temporal clinical manifestation sequences can provide valuable knowledge about the data evolution. In this paper, we demonstrate the usefulness of representing patient case reports of a neurodegenerative disorder as a set of temporal clinical manifestations semantically annotated with a domain phenotype ontology and registered with a time-stamped value. Novel techniques are presented to query and match sets of different manifestation sequences from multiple patient cases, with the aim of automatically inferring phenotype evolution patterns of generic patients for clinical studies. The method was applied to 25 patient report cases from a Spanish study of the domain of cerebrotendinous xanthomatosis. Five evolution patterns were automatically generated to analyze the patient data. The results were evaluated against 49 relevant conclusions drawn from the study, with a precision of 93 % and a recall of 70 %. PMID:23085966

  15. Topological Phenotypes in Complex Leaf Venation Networks

    NASA Astrophysics Data System (ADS)

    Ronellenfitsch, Henrik; Lasser, Jana; Daly, Douglas; Katifori, Eleni

    2015-03-01

    The leaves of vascular plants contain highly complex venation networks consisting of recursively nested, hierarchically organized loops. We analyze the topology of the venation of leaves from ca. 200 species belonging to ca. 10 families, defining topological metrics that quantify the hierarchical nestedness of the network cycles. We find that most of the venation variability can be described by a two dimensional phenotypic space, where one dimension consists of a linear combination of geometrical metrics and the other dimension of topological, previously uncharacterized metrics. We show how this new topological dimension in the phenotypic space significantly improves identification of leaves from fragments, by calculating a ``leaf fingerprint'' from the topology and geometry of the higher order veins. Further, we present a simple model suggesting that the topological phenotypic traits can be explained by noise effects and variations in the timing of higher order vein developmental events. This work opens the path to (a) new quantitative identification techniques for leaves which go beyond simple geometric traits such as vein density and (b) topological quantification of other planar or almost planar networks such as arterial vaculature in the neocortex and lung tissue.

  16. Administration of saccharin to neonatal mice influences body composition of adult males and reduces body weight of females.

    PubMed

    Parlee, Sebastian D; Simon, Becky R; Scheller, Erica L; Alejandro, Emilyn U; Learman, Brian S; Krishnan, Venkatesh; Bernal-Mizrachi, Ernesto; MacDougald, Ormond A

    2014-04-01

    Nutritional or pharmacological perturbations during perinatal growth can cause persistent effects on the function of white adipose tissue, altering susceptibility to obesity later in life. Previous studies have established that saccharin, a nonnutritive sweetener, inhibits lipolysis in mature adipocytes and stimulates adipogenesis. Thus, the current study tested whether neonatal exposure to saccharin via maternal lactation increased susceptibility of mice to diet-induced obesity. Saccharin decreased body weight of female mice beginning postnatal week 3. Decreased liver weights on week 14 corroborated this diminished body weight. Initially, saccharin also reduced male mouse body weight. By week 5, weights transiently rebounded above controls, and by week 14, male body weights did not differ. Body composition analysis revealed that saccharin increased lean and decreased fat mass of male mice, the latter due to decreased adipocyte size and epididymal, perirenal, and sc adipose weights. A mild improvement in glucose tolerance without a change in insulin sensitivity or secretion aligned with this leaner phenotype. Interestingly, microcomputed tomography analysis indicated that saccharin also increased cortical and trabecular bone mass of male mice and modified cortical bone alone in female mice. A modest increase in circulating testosterone may contribute to the leaner phenotype in male mice. Accordingly, the current study established a developmental period in which saccharin at high concentrations reduces adiposity and increases lean and bone mass in male mice while decreasing generalized growth in female mice. PMID:24456165

  17. Administration of Saccharin to Neonatal Mice Influences Body Composition of Adult Males and Reduces Body Weight of Females

    PubMed Central

    Parlee, Sebastian D.; Simon, Becky R.; Scheller, Erica L.; Alejandro, Emilyn U.; Learman, Brian S.; Krishnan, Venkatesh; Bernal-Mizrachi, Ernesto

    2014-01-01

    Nutritional or pharmacological perturbations during perinatal growth can cause persistent effects on the function of white adipose tissue, altering susceptibility to obesity later in life. Previous studies have established that saccharin, a nonnutritive sweetener, inhibits lipolysis in mature adipocytes and stimulates adipogenesis. Thus, the current study tested whether neonatal exposure to saccharin via maternal lactation increased susceptibility of mice to diet-induced obesity. Saccharin decreased body weight of female mice beginning postnatal week 3. Decreased liver weights on week 14 corroborated this diminished body weight. Initially, saccharin also reduced male mouse body weight. By week 5, weights transiently rebounded above controls, and by week 14, male body weights did not differ. Body composition analysis revealed that saccharin increased lean and decreased fat mass of male mice, the latter due to decreased adipocyte size and epididymal, perirenal, and sc adipose weights. A mild improvement in glucose tolerance without a change in insulin sensitivity or secretion aligned with this leaner phenotype. Interestingly, microcomputed tomography analysis indicated that saccharin also increased cortical and trabecular bone mass of male mice and modified cortical bone alone in female mice. A modest increase in circulating testosterone may contribute to the leaner phenotype in male mice. Accordingly, the current study established a developmental period in which saccharin at high concentrations reduces adiposity and increases lean and bone mass in male mice while decreasing generalized growth in female mice. PMID:24456165

  18. Male-mediated developmental toxicity.

    PubMed

    Anderson, Diana; Schmid, Thomas E; Baumgartner, Adolf

    2014-01-01

    Male-mediated developmental toxicity has been of concern for many years. The public became aware of male-mediated developmental toxicity in the early 1990s when it was reported that men working at Sellafield might be causing leukemia in their children. Human and animal studies have contributed to our current understanding of male-mediated effects. Animal studies in the 1980s and 1990s suggested that genetic damage after radiation and chemical exposure might be transmitted to offspring. With the increasing understanding that there is histone retention and modification, protamine incorporation into the chromatin and DNA methylation in mature sperm and that spermatozoal RNA transcripts can play important roles in the epigenetic state of sperm, heritable studies began to be viewed differently. Recent reports using molecular approaches have demonstrated that DNA damage can be transmitted to babies from smoking fathers, and expanded simple tandem repeats minisatellite mutations were found in the germline of fathers who were exposed to radiation from the Chernobyl nuclear power plant disaster. In epidemiological studies, it is possible to clarify whether damage is transmitted to the sons after exposure of the fathers. Paternally transmitted damage to the offspring is now recognized as a complex issue with genetic as well as epigenetic components. PMID:24369136

  19. Male-mediated developmental toxicity

    PubMed Central

    Anderson, Diana; Schmid, Thomas E; Baumgartner, Adolf

    2014-01-01

    Male-mediated developmental toxicity has been of concern for many years. The public became aware of male-mediated developmental toxicity in the early 1990s when it was reported that men working at Sellafield might be causing leukemia in their children. Human and animal studies have contributed to our current understanding of male-mediated effects. Animal studies in the 1980s and 1990s suggested that genetic damage after radiation and chemical exposure might be transmitted to offspring. With the increasing understanding that there is histone retention and modification, protamine incorporation into the chromatin and DNA methylation in mature sperm and that spermatozoal RNA transcripts can play important roles in the epigenetic state of sperm, heritable studies began to be viewed differently. Recent reports using molecular approaches have demonstrated that DNA damage can be transmitted to babies from smoking fathers, and expanded simple tandem repeats minisatellite mutations were found in the germline of fathers who were exposed to radiation from the Chernobyl nuclear power plant disaster. In epidemiological studies, it is possible to clarify whether damage is transmitted to the sons after exposure of the fathers. Paternally transmitted damage to the offspring is now recognized as a complex issue with genetic as well as epigenetic components. PMID:24369136

  20. Male breast cancer: a review

    PubMed Central

    Fentiman, IS

    2009-01-01

    Male breast cancer (MBC) is rare, with the peak age of onset at 71 years. BRCA2 mutations are more frequent than BRCA1 with 20% of cases giving a family history. Risk factors for MBC are poorly understood and include working in high-ambient temperatures and exhaust fume exposure. MBC is associated with hyperoestrogenic states found in liver disease, Klinefelter’s syndrome, gonadal dysfunction or obesity. Most information on treatment of MBC is derived from large randomized trials carried out in female patients. The small numbers of MBC seen in any unit annually has precluded significant trials being carried out. Diagnosis and treatment of MBC is similar to that of female patients, but men tend to be treated with mastectomy rather than breast-conserving surgery. The mainstay of adjuvant therapy or palliative treatment for advanced disease is endocrine, mostly tamoxifen. Prognosis of male patients is equal to that of stage-matched women, but men tend to fare worse because of delay in presentation, leading to a large proportion of patients presenting with stage III or IV disease. Increased input is needed for psychological support for male breast cancer patients. Specific therapeutic questions about MBC need international trials to obtain meaningful answers. PMID:22276005