Science.gov

Sample records for a-lactalbumin locus finding

  1. Hazard Adjustment, Locus of Control, and Sensation Seeking: Some Null Findings

    ERIC Educational Resources Information Center

    Schiff, Myra

    1977-01-01

    Interviews were carried out with 328 residents of London, Ontario, to test the hypothesis that locus of control and sensation seeking are related to the tendency to adjust to natural and nonnatural hazards. Possible explanations for the findings are offered, and directions for future research are suggested. (Editor/BT)

  2. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

    PubMed

    Kantarci, S; Casavant, D; Prada, C; Russell, M; Byrne, J; Haug, L Wilkins; Jennings, R; Manning, S; Blaise, F; Boyd, T K; Fryns, J P; Holmes, L B; Donahoe, P K; Lee, C; Kimonis, V; Pober, B R

    2006-01-01

    Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array-based comparative genomic hybridization (aCGH) of approximately 1Mb resolution to 29 CDH patients with prior normal karyotypes who had been recruited into our multi-site study. One patient, clinically diagnosed with Fryns syndrome, demonstrated a de novo 5Mb deletion at chromosome region 1q41-q42.12 that was confirmed by FISH. Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH.

  3. Genome-wide linkage analysis for severe obesity in french caucasians finds significant susceptibility locus on chromosome 19q.

    PubMed

    Bell, Christopher G; Benzinou, Michael; Siddiq, Afshan; Lecoeur, Cécile; Dina, Christian; Lemainque, Arnaud; Clément, Karine; Basdevant, Arnaud; Guy-Grand, Bernard; Mein, Charles A; Meyre, David; Froguel, Philippe

    2004-07-01

    To ascertain whether distinct chromosomal loci existed that were linked to severe obesity, as well as to utilize the increased heritability of this excessive phenotype, we performed a genome-wide scan in severely obese French Caucasians. The 109 selected pedigrees, totaling 447 individuals, required both the proband and a sibling to be severely obese (BMI >or=35 kg/m(2)), and 84.8% of the nuclear families possessed >or=1 morbidly obese sibling (BMI >or=40). Severe and morbid obesity are still relatively rare in France, with rates of 2.5 and 0.6%, respectively. The initial genome scan consisted of 395 evenly spaced microsatellite markers. Six regions were found to have suggestive linkage on 4q, 6cen-q, 17q, and 19q for a BMI >or=35 phenotypic subset, and 5q and 10q for an inclusive BMI >or=27 group. The highest peak on chromosome 19q (logarithm of odds [LOD] = 3.59) was significant by genome scan simulation testing (P = 0.042). These regions then underwent second-stage mapping with an additional set of 42 markers. BMI >or=35 analysis defined regions on 17q23.3-25.1 and 19q13.33-13.43 with an maximum likelihood score LOD of 3.16 and 3.21, respectively. Subsequent pooled data analysis with an additional previous population of 66 BMI >or=35 sib-pairs led to a significant LOD score of 3.8 at the 19q locus (empirical P = 0.023). For more moderate obesity and overweight susceptibility loci, BMI >or=27 analysis confirmed suggestive linkage to chromosome regions 5q14.3-q21.3 (LOD = 2.68) and 10q24.32-26.2 (LOD = 2.47). Plausible positional candidate genes include NR1H2 and TULP2.

  4. Findings

    MedlinePlus

    ... Issue All Issues Explore Findings by Topic Cell Biology Cellular Structures, Functions, Processes, Imaging, Stress Response Chemistry ... Glycobiology, Synthesis, Natural Products, Chemical Reactions Computers in Biology Bioinformatics, Modeling, Systems Biology, Data Visualization Diseases Cancer, ...

  5. Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41.

    PubMed

    Wong, F K; Gustafsson, B

    2000-04-01

    The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family.

  6. Cloning of interleukin-10 from African clawed frog (Xenopus tropicalis), with the Finding of IL-19/20 homologue in the IL-10 locus.

    PubMed

    Qi, Zhitao; Zhang, Qihuan; Wang, Zisheng; Zhao, Weihong; Gao, Qian

    2015-01-01

    Interleukin-10 (IL-10) is a pleiotropic cytokine that plays an important role in immune system. In the present study, the IL-10 gene of African clawed frog (Xenopus tropicalis) was first cloned, and its expression pattern and 3D structure were also analyzed. The frog IL-10 mRNA encoded 172 amino acids which possessed several conserved features found in IL-10s from other species, including five-exon/four-intron genomic structure, conserved four cysteine residues, IL-10 family motif, and six α-helices. Real-time PCR showed that frog IL-10 mRNA was ubiquitous expressed in all examined tissues, highly in some immune related tissues including kidney, spleen, and intestine and lowly in heart, stomach, and liver. The frog IL-10 mRNA was upregulated at 24 h after LPS stimulation, indicating that it plays a part in the host immune response to bacterial infection. Another IL, termed as IL-20, was identified from the frog IL-10 locus, which might be the homologue of mammalian IL-19/20 according to the analysis results of the phylogenetic tree and the sequence identities.

  7. Speaking rate effects on locus equation slope

    PubMed Central

    Berry, Jeff; Weismer, Gary

    2013-01-01

    A locus equation describes a 1st order regression fit to a scatter of vowel steady-state frequency values predicting vowel onset frequency values. Locus equation coefficients are often interpreted as indices of coarticulation. Speaking rate variations with a constant consonant–vowel form are thought to induce changes in the degree of coarticulation. In the current work, the hypothesis that locus slope is a transparent index of coarticulation is examined through the analysis of acoustic samples of large-scale, nearly continuous variations in speaking rate. Following the methodological conventions for locus equation derivation, data pooled across ten vowels yield locus equation slopes that are mostly consistent with the hypothesis that locus equations vary systematically with coarticulation. Comparable analyses between different four-vowel pools reveal variations in the locus slope range and changes in locus slope sensitivity to rate change. Analyses across rate but within vowels are substantially less consistent with the locus hypothesis. Taken together, these findings suggest that the practice of vowel pooling exerts a non-negligible influence on locus outcomes. Results are discussed within the context of articulatory accounts of locus equations and the effects of speaking rate change. PMID:24535890

  8. Speaking rate effects on locus equation slope.

    PubMed

    Berry, Jeff; Weismer, Gary

    2013-11-01

    A locus equation describes a 1st order regression fit to a scatter of vowel steady-state frequency values predicting vowel onset frequency values. Locus equation coefficients are often interpreted as indices of coarticulation. Speaking rate variations with a constant consonant-vowel form are thought to induce changes in the degree of coarticulation. In the current work, the hypothesis that locus slope is a transparent index of coarticulation is examined through the analysis of acoustic samples of large-scale, nearly continuous variations in speaking rate. Following the methodological conventions for locus equation derivation, data pooled across ten vowels yield locus equation slopes that are mostly consistent with the hypothesis that locus equations vary systematically with coarticulation. Comparable analyses between different four-vowel pools reveal variations in the locus slope range and changes in locus slope sensitivity to rate change. Analyses across rate but within vowels are substantially less consistent with the locus hypothesis. Taken together, these findings suggest that the practice of vowel pooling exerts a non-negligible influence on locus outcomes. Results are discussed within the context of articulatory accounts of locus equations and the effects of speaking rate change.

  9. True hermaphroditism in a 46, XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): Molecular genetics and histological findings in a sporadic case

    SciTech Connect

    Braun, A.; Kammerer, S.; Cleve, H.; Loehrs, U.; Schwarz, H.P.; Kuhnle, U. )

    1993-03-01

    Recently, the gene for the determination of maleness has been identified in the sex-determining region on the short arm of the Y chromosome (SRY) between the Y-chromosomal pseudoautosomal boundary (PABY) and the ZFY gene locus. Experiments with transgenic mice confirmed that SRY is a part of the testis-determining factor (TDF). The authors describe a sporadic case of a patient with intersexual genitalia and the histological finding of ovotestes in the gonad, which resembles the mixed type of gonadal tissue without primordial follicle structures. The karyotype of the patient was 46,XY. By PCR amplification, they tested for the presence of SRY by using DNA obtained from histological gonadal slices. The SRY products of both DNA preparations were further analyzed by direct sequencing. All three parts of the sex-determining region of the Y chromosome could be amplified from leukocytic DNA. The patient's and the father's SRY sequences were identical with the published sequence. In the SRY PCR product of gonadal DNA, the wild-type and two point mutations were present in the patient's sequence, simulating a heterozygous state of a Y-chromosomal gene: one of the mutations was silent, while the other encoded for a nonconservative amino acid substitution from leucine to histidine. Subcloning procedures showed that the two point mutations always occurred together. The origin of the patient's intersexuality is a postzygotic mutation of the SRY occurring in part of the gonadal tissue. This event caused the loss of the testis-determining function in affected cells. 37 refs., 6 figs.

  10. Image simulation using LOCUS

    SciTech Connect

    Strachan, J.D.; Roberts, J.A.

    1989-09-01

    The LOCUS data base program has been used to simulate images and to solve simple equations. This has been accomplished by making each record (which normally would represent a data entry)represent sequenced or random number pairs.

  11. Impact of locus of control on health message effectiveness.

    PubMed

    Kong, Ying; Shen, Fuyuan

    2011-10-01

    This article examined how individuals' locus of control might moderate the effect of health message frames. An experiment was conducted whereby participants read either individual- or social-responsibility message frames after their locus of control was primed. Results indicated that messages presented in individual-responsibility frames were more persuasive when people were primed with internal locus of control, whereas social-responsibility framed appeals were more persuasive when people were primed with external locus of control. These results were found for individuals in both high and low cognitive load conditions. Theoretical and practical implications of the findings are discussed.

  12. Personality and Locus of Control among School Children

    ERIC Educational Resources Information Center

    Pandya, Archana A.; Jogsan, Yogesh A.

    2013-01-01

    The main purpose of this investigation is to find out the sex differences in personality traits and locus of control among school children. A total 60 children (30 boys and 30 girls) were taken as a sample. The research tool for personality, children personality questionnaire was used, which was made by Cattell and Porter. Locus of control was…

  13. Personality and Locus of Control among School Children

    ERIC Educational Resources Information Center

    Pandya, Archana A.; Jogsan, Yogesh A.

    2013-01-01

    The main purpose of this investigation is to find out the sex differences in personality traits and locus of control among school children. A total 60 children (30 boys and 30 girls) were taken as a sample. The research tool for personality, children personality questionnaire was used, which was made by Cattell and Porter. Locus of control was…

  14. Physical Attractiveness, Locus of Control, Sex Role, and Conversational Assertiveness.

    ERIC Educational Resources Information Center

    Campbell, Keith F.; And Others

    1990-01-01

    Analyzes the relationship among physical attractiveness, locus of control, sex role orientation, and assertiveness in undergraduate students. Reviews videotapes of mixed-sex student groups engaged in discussion. Finds an internal locus of control positively correlated with assertiveness. Uses a behavioral measure of assertiveness rather than…

  15. The IGF2 Locus

    USDA-ARS?s Scientific Manuscript database

    Insulin-like growth factor 2 (IGF2) is a peptide hormone regulating various cellular processes such as proliferation and apoptosis. IGF2 is vital to embryo development. The IGF2 locus covers approximately 150-kb genomic region on human chromosome 11, containing two imprinted genes, IGF2 and H19, sha...

  16. Adolescent Values Clarification: A Positive Influence on Perceived Locus of Control.

    ERIC Educational Resources Information Center

    James, Mark R.

    1990-01-01

    Used locus of control assessments to monitor specific aspect of adolescent chemical dependency treatment program. Used song lyric analysis activities to note short-term modifications in experimental group's (N=10) perceived locus of control. No improvements were noted in matched control group's locus of control. Findings suggest that addictions…

  17. Two-trait-locus linkage analysis: A powerful strategy for mapping complex genetic traits

    SciTech Connect

    Schork, N.J.; Boehnke, M. ); Terwilliger, J.D.; Ott, J. )

    1993-11-01

    Nearly all diseases mapped to date follow clear Mendelian, single-locus segregation patterns. In contrast, many common familial diseases such as diabetes, psoriasis, several forms of cancer, and schizophrenia are familial and appear to have a genetic component but do not exhibit simple Mendelian transmission. More complex models are required to explain the genetics of these important diseases. In this paper, the authors explore two-trait-locus, two-marker-locus linkage analysis in which two trait loci are mapped simultaneously to separate genetic markers. The authors compare the utility of this approach to standard one-trait-locus, one-marker-locus linkage analysis with and without allowance for heterogeneity. The authors also compare the utility of the two-trait-locus, two-marker-locus analysis to two-trait-locus, one-marker-locus linkage analysis. For common diseases, pedigrees are often bilineal, with disease genes entering via two or more unrelated pedigree members. Since such pedigrees often are avoided in linkage studies, the authors also investigate the relative information content of unilineal and bilineal pedigrees. For the dominant-or-recessive and threshold models that the authors consider, the authors find that two-trait-locus, two-marker-locus linkage analysis can provide substantially more linkage information, as measured by expected maximum lod score, than standard one-trait-locus, one-marker-locus methods, even allowing for heterogeneity, while, for a dominant-or-dominant generating model, one-locus models that allow for heterogeneity extract essentially as much information as the two-trait-locus methods. For these three models, the authors also find that bilineal pedigrees provide sufficient linkage information to warrant their inclusion in such studies. The authors discuss strategies for assessing the significance of the two linkages assumed in two-trait-locus, two-marker-locus models. 37 refs., 1 fig., 4 tabs.

  18. A suppressor locus for MODY3-diabetes

    PubMed Central

    Garcia-Gonzalez, Miguel A.; Carette, Claire; Bagattin, Alessia; Chiral, Magali; Makinistoglu, Munevver Parla; Garbay, Serge; Prévost, Géraldine; Madaras, Cécile; Hérault, Yann; Leibovici, Michel; Pontoglio, Marco

    2016-01-01

    Maturity Onset Diabetes of the Young type 3 (MODY3), linked to mutations in the transcription factor HNF1A, is the most prevalent form of monogenic diabetes mellitus. HNF1alpha-deficiency leads to defective insulin secretion via a molecular mechanism that is still not completely understood. Moreover, in MODY3 patients the severity of insulin secretion can be extremely variable even in the same kindred, indicating that modifier genes may control the onset of the disease. With the use of a mouse model for HNF1alpha-deficiency, we show here that specific genetic backgrounds (C3H and CBA) carry a powerful genetic suppressor of diabetes. A genome scan analysis led to the identification of a major suppressor locus on chromosome 3 (Moda1). Moda1 locus contains 11 genes with non-synonymous SNPs that significantly interacts with other loci on chromosomes 4, 11 and 18. Mechanistically, the absence of HNF1alpha in diabetic-prone (sensitive) strains leads to postnatal defective islets growth that is remarkably restored in resistant strains. Our findings are relevant to human genetics since Moda1 is syntenic with a human locus identified by genome wide association studies of fasting glycemia in patients. Most importantly, our results show that a single genetic locus can completely suppress diabetes in Hnf1a-deficiency. PMID:27667715

  19. Locus of Control Orientation: Parents, Peers, and Place.

    PubMed

    Ahlin, Eileen M; Lobo Antunes, Maria João

    2015-09-01

    An internal locus of control contributes to positive youth outcomes such as a general well-being and academic success, while also serving as a protective factor against exposure to community violence and reducing negative behaviors like violence. Despite these benefits, very little is known about antecedents of an internal locus of control orientation. Without an understanding of what factors contribute to the development of an internal locus of control, it is not clear how to best encourage its formation. This study uses data from the Project on Human Development in Chicago Neighborhoods to examine whether various mesosystem variables (family management strategies, peer interactions, neighborhood context, and individual-level characteristics) are associated with an internal locus of control orientation among 1,076 youth ages 9-19 living in 78 Chicago neighborhoods. Study participants were Hispanic (46 %), African American (34 %), and White (15 %), and 50 % were female. The findings suggest that, while most levels of the mesosystem influence locus of control orientation, family management strategies are more prominent determinants of an internal locus of control than peers, neighborhood context, or individual characteristics. Parental supervision over the time a youth spends at home and family socioeconomic status are consistent predictors of an internal locus of control, while harsh discipline is associated with an external locus of control. The discussion examines the import of various parenting techniques in shaping an internal locus of control and considers future avenues for research to further unpack how antecedents of locus of control can vary across youth.

  20. Bifurcations of the conjugate locus

    NASA Astrophysics Data System (ADS)

    Waters, Thomas

    2017-09-01

    The conjugate locus of a point p in a surface S will have a certain number of cusps. As the point p is moved in the surface the conjugate locus may spontaneously gain or lose cusps. In this paper we explain this 'bifurcation' in terms of the vanishing of higher derivatives of the exponential map; we derive simple equations for these higher derivatives in terms of scalar invariants; we classify the bifurcations of cusps in terms of the local structure of the conjugate locus; and we describe an intuitive picture of the bifurcation as the intersection between certain contours in the tangent plane.

  1. Detecting purely epistatic multi-locus interactions by an omnibus permutation test on ensembles of two-locus analyses

    PubMed Central

    Wongseree, Waranyu; Assawamakin, Anunchai; Piroonratana, Theera; Sinsomros, Saravudh; Limwongse, Chanin; Chaiyaratana, Nachol

    2009-01-01

    in PGM1 (phosphoglucomutase 1), two intronic SNPs in LMX1A (LIM homeobox transcription factor 1, alpha), two intronic SNPs in PARK2 (Parkinson disease (autosomal recessive, juvenile) 2, parkin) and three intronic SNPs in GYS2 (glycogen synthase 2 (liver)) are associated with the disease. The 2LOmb result suggests that there is no interaction between each pair of the identified genes that can be described by purely epistatic two-locus interaction models. Moreover, there are no interactions between these four genes that can be described by purely epistatic multi-locus interaction models with marginal two-locus effects. The findings provide an alternative explanation for the aetiology of T2D in a UK population. Conclusion An omnibus permutation test on ensembles of two-locus analyses can detect purely epistatic multi-locus interactions with marginal two-locus effects. The study also reveals that SNPs from large-scale or genome-wide case-control data which are discarded after single-locus analysis detects no association can still be useful for genetic epidemiology studies. PMID:19761607

  2. The internet and locus of control in older adults.

    PubMed Central

    Campbell, Robert J.; Harris, Kimberly D.; Wabby, James

    2002-01-01

    OBJECTIVE: To investigate how training older adults to find medical information using the Internet affects their locus of control. METHODS: Quantitative methods were utilized. Specifically, the Multidimensional Health Locus of Control survey was distributed at the onset of each seminar and again at the conclusion. RESULTS: Paired t-tests revealed that the subjects did not change their locus of control regarding their health beliefs over the period of the seminar. However, there was statistical significance with regard to eight specific questions. CONCLUSION: Subjects scored high on their level of internal locus of control coming into the study. The majority of subjects had already learned to use the computer, owned a home computer, and had access to the Internet, but had not used the Internet to search for healthcare information. The challenge continues to be reaching those older adults who have not encountered the computer and the Internet. PMID:12463794

  3. Locus of Control, Attributional Style and Discipline Problems in Secondary Schools

    ERIC Educational Resources Information Center

    Tony, Tam Shui Kee

    2003-01-01

    This article presents the findings of a study hypothesizing that school discipline problems are a maladaptive response to the demand of the school environment as a result of deficits in the area of locus of control and attributional style. The findings indicate that an external orientation of locus of control and a passive pattern of attribution…

  4. Bipolar disorder: evidence for a major locus.

    PubMed

    Spence, M A; Flodman, P L; Sadovnick, A D; Bailey-Wilson, J E; Ameli, H; Remick, R A

    1995-10-09

    Complex segregation analyses were conducted on families of bipolar I and bipolar II probands to delineate the mode of inheritance. The probands were ascertained from consecutive referrals to the Mood Disorder Service, University Hospital, University of British Columbia and diagnosed by DSM-III-R and Research Diagnostic Criteria. Data were available on over 1,500 first-degree relatives of the 186 Caucasian probands. The purpose of the analyses was to determine if, after correcting for age and birth cohort, there was evidence for a single major locus. Five models were fit to the data using the statistical package SAGE: i) dominant, ii) recessive, iii) arbitrary mendelian inheritance, iv) environmental, and v) no major effects. A single dominant, mendelian major locus was the best fitting of these models for the sample of bipolar I and II probands when only bipolar relatives were defined as affected (polygenic inheritance could not be tested). Adding recurrent major depression to the diagnosis "affected" for relatives reduced the evidence for a major locus effect. Our findings support the undertaking of linkage studies and are consistent with the analyses of the National Institutes of Mental Health (NIMH) Collaborative Study data by Rice et al. (Arch Gen Psychiatry 44: 441-447, 1987) and Blangero and Elston (Genet Epidemiol 6:221-227, 1989).

  5. Bipolar disorder: Evidence for a major locus

    SciTech Connect

    Spence, M.A.; Flodman, P.L.; Sadovnick, A.D.; Ameli, H.

    1995-10-09

    Complex segregation analyses were conducted on families of bipolar I and bipolar II probands to delineate the mode of inheritance. The probands were ascertained from consecutive referrals to the Mood Disorder Service, University Hospital, University of British Columbia and diagnosed by DSM-III-R and Research Diagnostic Criteria. Data were available on over 1,500 first-degree relatives of the 186 Caucasian probands. The purpose of the analyses was to determine if, after correcting for age and birth cohort, there was evidence for a single major locus. Five models were fit to the data using the statistical package SAGE: (1) dominant, (2) recessive, (3) arbitrary mendelian inheritance, (4) environmental, and (5) no major effects. A single dominant, mendelian major locus was the best fitting of these models for the sample of bipolar I and II probands when only bipolar relatives were defined as affected (polygenic inheritance could not be tested). Adding recurrent major depression to the diagnosis {open_quotes}affected{close_quotes} for relatives reduced the evidence for a major locus effect. Our findings support the undertaking of linkage studies and are consistent with the analyses of the National Institutes of Mental Health (NIMH) Collaborative Study data by Rice et al. and Blangero and Elston. 39 refs., 4 tabs.

  6. Finding the locus of semantic satiation: an electrophysiological attempt.

    PubMed

    Frenck-Mestre, C; Besson, M; Pynte, J

    1997-05-01

    The present study examined the effect of massed repetition of an initial category name upon the subsequent semantic categorization of a target word by means of an electrophysiological measure of semantic processing: the N400. Results showed the classic N400 effect, whereby evoked potentials were more negative for targets that were not members of the repeated category than for member targets. Moreover, repetition of the category name led to an increased and sustained positivity. The N400 effect was not modified, however, by repetition. Hence, insomuch as the N400 reflects meaning integration processes, these results do not support the hypothesis that massed repetition exerts its influence at the level of meaning integration.

  7. The Stigmatized Deaths in Jonestown: Finding a Locus for Grief

    ERIC Educational Resources Information Center

    Moore, Rebecca

    2011-01-01

    This article considers the stigmatized deaths in Jonestown, Guyana, in 1978, in which more than 900 Americans died of mass murder and suicide, and how this led to the disenfranchisement of grief. It examines the rituals of exclusion by which bodies were handled and describes the experiences of Jonestown survivors. It then looks at the ways in…

  8. The Stigmatized Deaths in Jonestown: Finding a Locus for Grief

    ERIC Educational Resources Information Center

    Moore, Rebecca

    2011-01-01

    This article considers the stigmatized deaths in Jonestown, Guyana, in 1978, in which more than 900 Americans died of mass murder and suicide, and how this led to the disenfranchisement of grief. It examines the rituals of exclusion by which bodies were handled and describes the experiences of Jonestown survivors. It then looks at the ways in…

  9. [Study on preferred retinal locus].

    PubMed

    Dai, Bing-Fa; Hu, Jian-Min; Xu, Duan-Lian

    2012-03-01

    Preferred retinal locus (PRL) is always found in the age-related macular degeneration and other macular damages in patients with low vision, and it is a very important anatomic position in patients with central vision impairment to achieve the rehabilitation. In recent years, the training of preferred retinal locus (PRL) has become a research hotspot of low vision rehabilitation, it can clearly improve functional vision and quality of life. The authors reviewed relevant literatures, and summarized the definition, position, characteristics, training and clinical implications of the PRL.

  10. Cognitive functioning correlates of self-esteem and health locus of control in schizophrenia

    PubMed Central

    Wang, Chien-Shu; Wu, Jo Yung-Wei; Chang, Wei-Chung; Chuang, Shu-Ping

    2013-01-01

    Aim The study aimed to investigate the relationship among sociodemographic factors, neurocognitive factors, self-esteem, and health locus of control in patients diagnosed with schizophrenia. We examined the self-esteem, internal health locus of control, and external health locus of control through sociodemographic and neurocognitive factors. Methods Forty-six schizophrenic patients and 31 healthy residents from the community or hospital were recruited as the control group. All subjects participated in the self-esteem questionnaire, health locus of control questionnaire, and a series of neuropychological measures. Results Multiple regression analysis revealed that inhibition of attention and external health locus of control were predictors for self-esteem (r=−0.30, P<0.05; r=0.41, P<0.01); inhibition of attention and external health locus of control were contributors for internal health locus of control (r=−0.43, P<0.01; r=0.61, P<0.001); and education was related to external health locus of control (r=−0.31, P<0.05). Conclusion The current study integrated background characteristics and cognitive function to better understand the impact of self-esteem and health locus of control in schizophrenia. The findings indicated that inhibition of attention, external health locus of control, and education contributed to self-esteem, internal health locus of control and external health locus of control. However, the overall predicted variance accounted for by these predictors was small; thus, further research is necessary to examine imperative variables related with self-esteem and health locus of control in schizophrenia. PMID:24194641

  11. Locus of Control and Delinquency.

    ERIC Educational Resources Information Center

    Parrott, C. A.; Strongman, K. T.

    1984-01-01

    Assessed delinquent and nondelinquent male adolescents (N=43) on locus of control and intellectual achievement responsibilty. Results supported a multidimensional model. There was no difference in expectancy of control for negative academic events between delinquents and nondelinquents. Birth order and delinquency were the most important…

  12. Locus of Control and Socialization.

    ERIC Educational Resources Information Center

    Raine, Adrian; And Others

    1982-01-01

    Predicted that an external locus of control would characterize undersocialization. Tested this hypothesis on a random sample of secondary school children (N=97). Scores from the Child Nowicki-Strickland Internal-External Scale were found to predict undersocialization in the expected direction. Suggested several possible interpretations of this…

  13. Locus of Control and Interpersonal Attraction.

    ERIC Educational Resources Information Center

    Fagan, M. Michael

    1980-01-01

    The role of locus of control in interpersonal attraction was examined by administering 1) the Nowicki-Strickland Locus of Control Scale and 2) a sociometric test of friendship to 200 eighth graders. (CM)

  14. The Influence of Locus of Control on Student Financial Behavior

    ERIC Educational Resources Information Center

    Britt, Sonya; Cumbie, Julie A.; Bell, Mary M.

    2013-01-01

    Data on psychological influences of financial behaviors has not been well addressed in student populations, which is concerning given the high levels of general and financial stress experienced by college students. The findings of this study indicate that college students with an external locus of control exhibit the worst financial behaviors.…

  15. Job Satisfaction and Locus of Control in an Academic Setting

    ERIC Educational Resources Information Center

    Stachowiak, Bonni J.

    2010-01-01

    This study explored any relationships that existed between faculty members' locus of control and job satisfaction at a small, private, faith-based university. Two demographic variables were also analyzed in the findings: number of years teaching in higher education and tenure status. The job satisfaction instrument used was the Job in General…

  16. Job Satisfaction and Locus of Control in an Academic Setting

    ERIC Educational Resources Information Center

    Stachowiak, Bonni J.

    2010-01-01

    This study explored any relationships that existed between faculty members' locus of control and job satisfaction at a small, private, faith-based university. Two demographic variables were also analyzed in the findings: number of years teaching in higher education and tenure status. The job satisfaction instrument used was the Job in General…

  17. The Influence of Locus of Control on Student Financial Behavior

    ERIC Educational Resources Information Center

    Britt, Sonya; Cumbie, Julie A.; Bell, Mary M.

    2013-01-01

    Data on psychological influences of financial behaviors has not been well addressed in student populations, which is concerning given the high levels of general and financial stress experienced by college students. The findings of this study indicate that college students with an external locus of control exhibit the worst financial behaviors.…

  18. Locus of Control and Status Attainment.

    ERIC Educational Resources Information Center

    Bensman, Miriam Roza; Haller, Archibald O.

    Utilizing data derived from 277 rural, male respondents initially enrolled in Lenawee County, Michigan high schools, the Rotter's Internal-External Locus of Control Scale was employed to test the hypothesis that locus of control will have interactive rather than additive effects on the process of status attainment. Locus of control was defined as…

  19. Which Sry locus is the hypertensive Y chromosome locus?

    PubMed

    Turner, Monte E; Farkas, Joel; Dunmire, Jeff; Ely, Daniel; Milsted, Amy

    2009-02-01

    The Y chromosome of the spontaneously hypertensive rat (SHR) contains a genetic component that raises blood pressure compared with the Wistar-Kyoto (WKY) Y chromosome. This research tests the Sry gene complex as the hypertensive component of the SHR Y chromosome. The Sry loci were sequenced in 1 strain with a hypertensive Y chromosome (SHR/Akr) and 2 strains with a normotensive Y chromosome (SHR/Crl and WKY/Akr). Both SHR strains have 7 Sry loci, whereas the WKY strain has 6. The 6 loci in common between SHR and WKY strains were identical in the sequence compared (coding region, 392-bp 5' prime flanking, 1200-bp 3' flanking). Both SHR strains have a locus (Sry3) not found in WKY rats, but this locus is different between SHR/Akr and SHR/Crl rats. Six mutations have accumulated in Sry3 between the SHR strains, whereas the other 6 Sry loci are identical. This pattern of an SHR-specific locus and mutation in this locus in SHR/Crl coinciding with the loss of Y chromosome hypertension is an expected pattern if Sry3 is the Y chromosome-hypertensive component. The SHR/y strain showed a significant increase in total Sry expression in the kidney between 4 and 15 weeks of age. There are significant differences in Sry expression between adrenal glands and the kidney (15 to 30 times higher in kidneys) but no significant differences between strains. These results, along with previous studies demonstrating an interaction of Sry with the tyrosine hydroxylase promoter and increased blood pressure with exogenous Sry expression, suggest the Sry loci as the hypertensive component of the SHR Y chromosome.

  20. Identifying a novel locus for psoriatic arthritis

    PubMed Central

    Budu-Aggrey, Ashley; Bowes, John

    2016-01-01

    A number of studies have identified genetic risk loci for PsA, the majority of which also confer risk for psoriasis. The stronger heritability of PsA in comparison with psoriasis suggests that there should be risk loci that are specific for PsA. Identifying such loci could potentially inform therapy development to provide more effective treatments for PsA patients, especially with a considerable proportion being non-responsive to current therapies. Evidence of a PsA-specific locus has been previously found at HLA-B27 within the MHC region. A recent study has provided evidence of non-HLA risk loci that are specific for PsA at IL23R, PTPN22 and on chromosome 5q31. Functional characterization of these loci will provide further understanding of the pathways underlying PsA, and enable us to apply genetic findings for patient benefit. PMID:26255310

  1. Development of Self-Compatible B. rapa by RNAi-Mediated S Locus Gene Silencing

    PubMed Central

    Jung, Hee-Jeong; Jung, Hyo-Jin; Ahmed, Nasar Uddin; Park, Jong-In; Kang, Kwon-Kyoo; Hur, Yoonkang; Lim, Yong-Pyo; Nou, Ill-Sup

    2012-01-01

    The self-incompatibility (SI) system is genetically controlled by a single polymorphic locus known as the S-locus in the Brassicaceae. Pollen rejection occurs when the stigma and pollen share the same S-haplotype. Recognition of S-haplotype specificity has recently been shown to involve at least two S-locus genes, S-receptor kinase (SRK) and S-locus protein 11 or S locus Cysteine-rich (SP11/SCR) protein. Here, we examined the function of S60, one SP11/SCR allele of B. rapa cv. Osome, using a RNAi-mediated gene silencing approach. The transgenic RNAi lines were highly self-compatible, and this trait was stable in subsequent generations, even after crossing with other commercial lines. These findings also suggested that the resultant self-compatibility could be transferred to commercial cultivars with the desired performances in B. rapa. PMID:23145180

  2. On the relevance of locus equations for production and perception of stop consonants.

    PubMed

    Brancazio, L; Fowler, C A

    1998-01-01

    We examined the possible relevance of locus equations to human production and perception of stop consonants. The orderly output constraint (OOC) of Sussman, Fruchter, and Cable (1995) claims that humans have evolved to produce speech such that F2 at consonant release and F2 at vowel midpoint are linearly related for consonants so that developing perceptual systems can form representations in an F2ons-by-F2vowel space. The theory claims that this relationship described by locus equations can distinguish consonants, and that the linearity of locus equations is captured in neural representations and is thus perceptually relevant. We investigated these claims by testing how closely locus equations reflect the production and perception of stop consonants. In Experiment 1, we induced speakers to change their locus equation slope and intercept parameters systematically, but found that consonants remained distinctive in slope-by-intercept space. In Experiment 2, we presented stop-consonant syllables with their bursts removed to listeners, and compared their classification error matrices with the predictions of a model using locus equation prototypes and with those of an exemplar-based model that uses F2ons and F2vowel, but not locus equations. Both models failed to account for a large proportion of the variance in listeners' responses; the locus equation model was no better in its predictions than the exemplar model. These findings are discussed in the context of the OOC.

  3. Locus ceruleus neurons in people with autism contain no histochemically-detectable mercury.

    PubMed

    Pamphlett, Roger; Kum Jew, Stephen

    2016-02-01

    Exposure to environmental mercury has been proposed to play a part in autism. Mercury is selectively taken up by the human locus ceruleus, a region of the brain that has been implicated in autism. We therefore looked for the presence of mercury in the locus ceruleus of people who had autism, using the histochemical technique of autometallography which can detect nanogram amounts of mercury in tissues. In addition, we sought evidence of damage to locus ceruleus neurons in autism by immunostaining for hyperphosphorylated tau. No mercury was found in any neurons of the locus ceruleus of 6 individuals with autism (5 male, 1 female, age range 16-48 years). Mercury was present in locus ceruleus neurons in 7 of 11 (64%) age-matched control individuals who did not have autism, which is significantly more than in individuals with autism. No increase in numbers of locus ceruleus neurons containing hyperphosphorylated tau was detected in people with autism. In conclusion, most people with autism have not been exposed early in life to quantities of mercury large enough to be found later in adult locus ceruleus neurons. Human locus ceruleus neurons are sensitive indicators of mercury exposure, and mercury appears to remain in these neurons indefinitely, so these findings do not support the hypothesis that mercury neurotoxicity plays a role in autism.

  4. Rapid Multi-Locus Sequence Typing Using Microfluidic Biochips

    DTIC Science & Technology

    2010-05-12

    Rapid Multi-Locus Sequence Typing Using Microfluidic Biochips Timothy D. Read1,2*, Rosemary S. Turingan3, Christopher Cook1, Heidi Giese3, Ulrich...sequencing of 6–8 housekeeping loci to assign unique sequence types. In this work we adapted MLST to a rapid microfluidics platform in order to...enhance speed and reduce laboratory labor time. Methodology/Principal Findings: Using two integrated microfluidic devices, DNA was purified from 100

  5. Factors Determining Adolescent Locus of Control.

    ERIC Educational Resources Information Center

    Kopera-Frye, Karen F.; And Others

    Previous research has demonstrated an association between locus of control in adolescence and a successful transition to adulthood. Having an external locus of control has been implicated as an important factor in adolescent behaviors such as teenage pregnancy and delinquency, and has been found to be negatively related to school achievement. This…

  6. Academic Locus of Control, Tendencies Towards Academic Dishonesty and Test Anxiety Levels as the Predictors of Academic Self-Efficacy

    ERIC Educational Resources Information Center

    Yesilyurt, Etem

    2014-01-01

    Many studies have focused on finding the level of effect that academic locus of control, tendencies towards academic dishonesty, and test anxiety levels have had on academic self-efficacy, and providing a separate explanation ratio for each. The relationship among the effects of the academic locus of control, tendencies towards academic…

  7. Locus of control and cerebral asymmetry.

    PubMed

    De Brabander, B; Boone, C; Gerits, P

    1992-08-01

    Data about the lack of synchronism of flexor carpi ulnaris peak EMG values of bimanual reactions during a semantic and during a visuospatial discrimination reaction time task are reported. The effects of type of task as well as the presence or absence of an unexpected stimulus preceding the reaction stimulus on lack of synchronism clearly depend upon the locus of control of the subjects, as measured on Rotter's I-E scale. On the basis of several arguments it is proposed that the measure of lack of synchronism reflects in an opposite sense the amount of dopaminergic activation or motor readiness in the sense in which Pribram and McGuinness in 1975 and Tucker and Williamson in 1984 have defined these concepts. The results for 15 women and 18 men show that more internally oriented subjects are more activated by a semantic task and by an unexpected preparatory stimulus in this type of task than more externally oriented subjects. The opposite appears to hold on the visuospatial task and unexpected preparatory stimuli therein. Together with earlier findings about reaction times and a number of relevant findings in the literature, the results are interpreted as indicative of basic differences in asymmetric tonic activation of the cerebral hemispheres between more internally and more externally oriented subjects. A model is proposed to explain phasic activating effects which ensue when tonically more left- or right-activated subjects perform left- or right-hemisphere tasks and when supplementary irrelevant stimuli are received.

  8. A Mycobacterium tuberculosis IS6110 preferential locus (ipl) for insertion into the genome.

    PubMed Central

    Fang, Z; Forbes, K J

    1997-01-01

    A 267-nucleotide Mycobacterium tuberculosis genomic sequence (ipl, the IS6110 preferential locus) which can harbor the insertion sequence IS6110 at six alternative locations has been identified in some three-quarters of the isolates tested. Only one IS6110 copy was observed at this locus in the ipl::IS6110(+)-containing isolates tested, and all insertions had the same orientation. The implications of this finding for IS6110 fingerprint typing methods is discussed in this work. PMID:9003621

  9. Locus-specific gene repositioning in prostate cancer

    PubMed Central

    Leshner, Marc; Devine, Michelle; Roloff, Gregory W.; True, Lawrence D.; Misteli, Tom; Meaburn, Karen J.

    2016-01-01

    Genes occupy preferred spatial positions within interphase cell nuclei. However, positioning patterns are not an innate feature of a locus, and genes can alter their localization in response to physiological and pathological changes. Here we screen the radial positioning patterns of 40 genes in normal, hyperplasic, and malignant human prostate tissues. We find that the overall spatial organization of the genome in prostate tissue is largely conserved among individuals. We identify three genes whose nuclear positions are robustly altered in neoplastic prostate tissues. FLI1 and MMP9 position differently in prostate cancer than in normal tissue and prostate hyperplasia, whereas MMP2 is repositioned in both prostate cancer and hyperplasia. Our data point to locus-specific reorganization of the genome during prostate disease. PMID:26564800

  10. Evidence for genetic heterogeneity in tuberous sclerosis: One locus on chromosome 9 and at least one locus elsewhere

    SciTech Connect

    Northrup, H.; Rodriguez, E. Jr. ); Herman, G.E.; Lewis, R.A. ); Kwiatkowski, D.J. ); Roach, E.S. ); Dobyns, W.B. ); Daiger, S.P.; Blanton, S.H. )

    1992-10-01

    Linkage of tuberous sclerosis complex (TSC), an autosomal dominant disorder, to markers on chromosome 9 was reported first in 1987. This assignment was confirmed by an international collaborative study that suggested more than one locus may be responsible for the phenotype. The authors studied 14 multigenerational TSC families (13 previously unreported) with markers for nine loci in the linked region of chromosome 9q32-q34. Results confirm the previous reports that the genetic locus in one-third to one-half of families maps to chromosome 9. Comparison of clinical findings in the chromosome 9-linked families with those in the chromosome 9-unlinked families reveals only a higher incidence of ungual fibromata in the chromosome 9-linked families. 38 refs., 6 figs., 4 tabs.

  11. Relationship among prospective parents' locus of control, social desirability, and choice of psychoprophylaxis.

    PubMed

    Windwer, C

    1977-01-01

    This study sought to determine if there is a relationship among locus of control, social desirability, and choice of psychoprophylaxis (PPM). It was hypothesized that internal locus of control and low social desirability would correlate significantly with the choice of PPM by husbands and wives; that externally controlled wives who participated in PPM would have more internally controlled husbands than externally controlled wives who participated in PPM would have more internally controlled husbands than externally controlled wives who did not participate; and that locus of control and social desirability, when taken together, would be better predictors of choice of PPM than either taken separately. Ninety-eight middle-class nulliparous couples, participant and non-participant, were studied in the seventh or eighth month of the wife's pregnancy. Rotter's I-E Scale and the Marlowe-Crowne Social Desirability Scale were used to measure locus of control and social desirability. Study findings did not support the hypotheses.

  12. Locus of control and law knowledge: a comparison of normal, retarded and learning disabled adolescents.

    PubMed

    Gardner, D C; Warren, S A; Gardner, P L

    1977-01-01

    Individualization of instruction of mentally handicapped adolescents may be facilitated by understanding of relevant variables associated with the learning skills required for coping with community life. This study explores the relationship between knowledge of such skills and locus of control (belief concerning the relative contribution of chance or others to outcomes and events which follow one's behavior). Comparisons of scores of 94 high school students on the Bialer-Cromwell Locus of Control Scale and a test of knowledge of law about such matters as credit, theft, and marriage, indicated that: (1) High school students in standard and college preparatory programs were more likely to see outcomes as determined by their own behaviors than were retarded and learning disabled students; (2) High school students in standard and college preparatory programs were better informed about legal matters crucial to community life than were mentally retarded and learning disabled students; (3) Mentally retarded and learning disabled students did not differ in law knowledge or on locus of control; (4) Locus of control was not directly related to IQ within the retarded-learning disabled group; (5) A moderate positive correlation was found between locus of control and law knowledge for the total group. Findings support Rotter's social learning theory. These findings also suggest that educators may need to provide more direct and specific training in critical aspects of layman's law for most retarded and learning disabled adolescents, as well as for average students who manifest external locus of control beliefs.

  13. Internal locus of control and vocational rehabilitation.

    PubMed

    Selander, John; Marnetoft, Sven-Uno; Asell, Malin; Selander, Ulrika; Millet, Patrick

    2008-01-01

    In previous studies, internal locus of control (ILC) has been pointed out as a key factor for return to work after vocational rehabilitation. The aim of the current study was to gain a deeper understanding of the concept of ILC in a Swedish vocational rehabilitation context. The study was based on data from 347 long-term sick-listed clients collected at the onset of vocational rehabilitation. A first bi-variate analysis showed that ILC was positively associated with physical functioning and general health, and negatively associated with bodily pain. The analysis also showed that women, more than men, reported high internal locus of control. After a second multivariate analysis, only bodily pain remained associated. It is concluded that there exist a strong and negative association between bodily pain and internal locus of control. Clients with severe pain often also suffer from low internal locus of control. This should be kept in mind when providing vocational rehabilitation.

  14. Molecular Identification of the Schwannomatosis Locus

    DTIC Science & Technology

    2005-07-01

    AD Award Number: DAMD17-03-1-0445 TITLE: Molecular Identification of the Schwannomatosis Locus PRINCIPAL INVESTIGATOR: Mia M. MacCollin, M.D...NUMBER Molecular Identification of the Schwannomatosis Locus 5b. GRANT NUMBER DAMD17-03-1-0445 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT NUMBER...can be found on next page. 15. SUBJECT TERMS schwannomatosis, tumor suppressor gene, NF2, molecular genetics 16. SECURITY CLASSIFICATION OF: 17

  15. Relationship between nursing students' epistemological beliefs and locus of control.

    PubMed

    Yilmaz, Aylin; Kaya, Hülya

    2010-10-01

    The aim of this study was to determine the relationship between nursing students' epistemologic beliefs and locus of control, and the research was conducted at Istanbul University Florence Nightingale School of Nursing with 350 nursing students. Data were collected using the Turkish version of the Epistemological beliefs questionnaire and Rotter's Internal-External Locus of Control Scale. In the data analysis number, percentage, mean, correlation analysis, one-way analysis of variance and Tukey HSD test were used. The findings as whole indicated that nursing students' epistemological beliefs that "The Belief of Learning Depends on Effort (Effort)" showed a greater degree of development than their beliefs about the two other dimensions as named "The Belief of Learning Depends on Ability (Ability)" and "The Belief That There is Only One Unchanging Truth (Unchanging Truth)" in this study, while their belief that there is Unchanging Truth was not developed when compared to the other two. There was a positive correlation between nursing students locus of control and Effort and Ability dimensions, but a significant correlation was not found with Unchanging Truth dimension. This researcher suggests that research should be carried out to determine nursing students' epistemological beliefs and the factors influencing them in an environment to promote the development of these beliefs, and thus the research can be used to learn about the development of the epistemological beliefs. Copyright © 2010 Elsevier Ltd. All rights reserved.

  16. Measurement methodology in children's health locus of control.

    PubMed

    Bases, Hugh; Schonfeld, David J

    2002-06-01

    Health locus of control scales for children are often constructed in an agree/disagree format. It was hypothesized that the structure of the instrument may be in part responsible for the finding that young children (7-8 yr) have an external health locus of control relevant to children several years older. The original version and a revised version, using a choice of attribution format, were both administered to 444 students (98% of eligible students) attending 10 second-grade classes. Although the mean scores for the two formats were the same, 32.0 (SD = 3.3), item level analyses showed poor agreement (kappa, -.005-.41) and significant bias in disagreements on 15 of the 20 items. Changes in the wording of the questions led to different results, indicating possible limitations in either format. The observation that young children likely have a mixed health locus of control indicates that health educators may benefit from employing both internal and external sources of reinforcement to promote healthy behaviors in young children.

  17. The immunoglobulin heavy chain locus in the platypus (Ornithorhynchus anatinus).

    PubMed

    Gambón-Deza, F; Sánchez-Espinel, C; Magadán-Mompó, S

    2009-08-01

    Immunoglobulins loci in mammals are well known to be organized within a translocon, however their origin remains unresolved. Four of the five classes of immunoglobulins described in humans and rodents (immunoglobulins M, G, E and A-IgM, IgG, IgE and IgA) were found in marsupials and monotremes (immunoglobulin D-IgD was not found) thus showing that the genomic structure of antibodies in mammals has remained constant since its origin. We have recently described the genomic organization of the immunoglobulin heavy chain locus in reptiles (IGHM, IGHD and IGHY). These data and the characterization of the IGH locus in platypus (Ornithorhynchus anatinus), allow us to elucidate the changes that took place in this genomic region during evolution from reptile to mammal. Thus, by using available genome data, we were able to detect that platypus IGH locus contains reptilian and mammalian genes. Besides having an IGHD that is very similar to the one in reptiles and an IGHY, they also present the mammal specific antibody genes IGHG and IGHE, in addition to IGHA. We also detected a pseudogene that originated by recombination between the IGHD and the IGHM (similar to the IGHD2 found in Eublepharis macularius). The analysis of the IGH locus in platypus shows that IGHY was duplicated, firstly by evolving into IGHE and then into IGHG. The IGHA of the platypus has a complex origin, and probably arose by a process of recombination between the IGHM and the IGHY. We detected about 44 VH genes (25 were already described), most of which comprise a single group. When we compared these VH genes with those described in Anolis carolinensis, we find that there is an evolutionary relationship between the VH genes of platypus and the reptilian Group III genes. These results suggest that a fast VH turnover took place in platypus and this gave rise to a family with a high VH gene number and the disappearance of the earlier VH families.

  18. Locus of control and peer relationships among Caucasian, Hispanic, Asian, and African American adolescents.

    PubMed

    Kang, Hannah Soo; Chang, Kyle Edward; Chen, Chuansheng; Greenberger, Ellen

    2015-01-01

    Past research has shown that locus of control plays an important role in a wide range of behaviors, such as academic achievement and positive social behaviors. However, little is known about whether locus of control plays the same role in minority adolescents' peer relationships. The current study examined ethnic differences in the associations between locus of control and peer relationships in early adolescence using samples from the Early Childhood Longitudinal Study (ECLS-K: 5,612 Caucasian, 1,562 Hispanic, 507 Asian, and 908 African-American adolescents) and the National Education Longitudinal Study (NELS: 8,484 Caucasian, 1,604 Hispanic, and 860 Asian, and 1,228 African American adolescents). Gender was approximately evenly split in both samples. The results from the two datasets were highly consistent. Significant interactions between ethnicity and locus of control indicated that having a more internal locus of control was particularly important for Caucasian students' peer relationships (ECLS-K) and social status (NELS), but less so for Asian, Hispanic, and African American students. Our findings suggest that the role of locus of control in peer relationship is contingent upon culture.

  19. The unusual S locus of Leavenworthia is composed of two sets of paralogous loci.

    PubMed

    Chantha, Sier-Ching; Herman, Adam C; Castric, Vincent; Vekemans, Xavier; Marande, William; Schoen, Daniel J

    2017-09-14

    The Leavenworthia self-incompatibility locus (S locus) consists of paralogs (Lal2, SCRL) of the canonical Brassicaceae S locus genes (SRK, SCR), and is situated in a genomic position that differs from the ancestral one in the Brassicaceae. Unexpectedly, in a small number of Leavenworthia alabamica plants examined, sequences closely resembling exon 1 of SRK have been found, but the function of these has remained unclear. BAC cloning and expression analyses were employed to characterize these SRK-like sequences. An SRK-positive Bacterial Artificial Chromosome clone was found to contain complete SRK and SCR sequences located close by one another in the derived genomic position of the Leavenworthia S locus, and in place of the more typical Lal2 and SCRL sequences. These sequences are expressed in stigmas and anthers, respectively, and crossing data show that the SRK/SCR haplotype is functional in self-incompatibility. Population surveys indicate that < 5% of Leavenworthia S loci possess such alleles. An ancestral translocation or recombination event involving SRK/SCR and Lal2/SCRL likely occurred, together with neofunctionalization of Lal2/SCRL, and both haplotype groups now function as Leavenworthia S locus alleles. These findings suggest that S locus alleles can have distinctly different evolutionary origins. © 2017 The Authors. New Phytologist © 2017 New Phytologist Trust.

  20. Content and organization of the human Ig VH locus: definition of three new VH families and linkage to the Ig CH locus.

    PubMed Central

    Berman, J E; Mellis, S J; Pollock, R; Smith, C L; Suh, H; Heinke, B; Kowal, C; Surti, U; Chess, L; Cantor, C R

    1988-01-01

    We present a detailed analysis of the content and organization of the human immunoglobulin VH locus. Human VH genes representing five distinct families were isolated, including novel members belonging to two out of three of the known VH gene families (VH1 and VH3) as well as members of three new families (VH4, VH5, and VH6). We report the nucleotide sequence of 21 novel human VH genes, many of which belong to the three new VH gene families. In addition, we provide a preliminary analysis of the organization of these gene segments over the full extent of the locus. We find that the five multi-segment families (VH1-5) have members interspersed over nearly the full 1500-2000 kb of the VH locus, and estimate that the entire heavy chain locus covers 2500 kb or less. Finally, we provide the first report of the physical linkage of the variable and constant loci of a human Ig gene family by demonstrating that the most proximal known human VH segments lie within 100 kb of the constant region locus. Images PMID:3396540

  1. Fine structure of the FMR-1 locus

    SciTech Connect

    Nelson, D.L.; Eichler, E.E.; Richards, S.; Gibbs, R.A.

    1994-07-15

    The fragile X syndrome is due to a CGG triplet expansion in the first exon of FMR-1, resulting in hypermethylation and extinction of gene expression. To further understanding of the gene`s involvement in the syndrome, we have determined the physical structure of this locus. A high resolution restriction map of cosmids from the region has been prepared encompassing approximately 50 kb. Using exon-exon PCR and restriction analysis, the FMR-1 gene has been determined to consist of 17 exons spanning 38 kb of Xq27.3. Each intron-exon boundary has been sequenced. In general, the splice donors and acceptors located in the 5{prime} portion of the gene demonstrate greater adherence to consensus than those in the 3{prime} end, providing a possible explanation for the finding of alternative splicing in FMR-1. Sequence analysis of the region immediately flanking the CGG triplet repeat demonstrated both tetranucleotide and dinucleotide repeats. Additional sequence is being obtained from the overlapping cosmids spanning the gene, and extending 20 kb proximal and approximately 30 kb distal as part of a larger project to determine sequence on the megabase scale in the Xq27.3-q28 region. These sequences are being characterized from normal and affected individuals to assess polymorphisms and the role (if any) of peculiar sequences in the generation of fragile X CGG instability. The elucidation of the structure and composition of the FMR-1 gene as well as its flanking region will enhance detection of other mutations possible in fragile X phenocopy individuals.

  2. Molecular characterization of the mouse agouti locus.

    PubMed

    Bultman, S J; Michaud, E J; Woychik, R P

    1992-12-24

    The agouti (a) locus acts within the microenvironment of the hair follicle to regulate coat color pigmentation in the mouse. We have characterized a gene encoding a novel 131 amino acid protein that we propose is the one gene associated with the agouti locus. This gene is normally expressed in a manner consistent with a locus function, and, more importantly, its structure and expression are affected by a number of representative alleles in the agouti dominance hierarchy. In addition, we found that the pleiotropic effects associated with the lethal yellow (Ay) mutation, which include pronounced obesity, diabetes, and the development of neoplasms, are accompanied by deregulated overexpression of the agouti gene in numerous tissues of the adult animal.

  3. Root locus analysis and design of the adaptation process in active noise control.

    PubMed

    Tabatabaei Ardekani, Iman; Abdulla, Waleed H

    2012-10-01

    This paper applies root locus theory to develop a graphical tool for the analysis and design of adaptive active noise control systems. It is shown that the poles of the adaptation process performed in these systems move on typical trajectories in the z-plane as the adaptation step-size varies. Based on this finding, the dominant root of the adaptation process and its trajectory can be determined. The first contribution of this paper is formulating parameters of the adaptation process root locus. The next contribution is introducing a mechanism for modifying the trajectory of the dominant root in the root locus. This mechanism creates a single open loop zero in the original root locus. It is shown that appropriate localization of this zero can cause the dominant root of the locus to be pushed toward the origin, and thereby the adaptation process becomes faster. The validity of the theoretical findings is confirmed in an experimental setup which is implemented using real-time multi-threading and multi-core processing techniques.

  4. Intrahaplotype polymorphism at the Brassica S locus.

    PubMed Central

    Miege, C; Ruffio-Châble, V; Schierup, M H; Cabrillac, D; Dumas, C; Gaude, T; Cock, J M

    2001-01-01

    The S locus receptor kinase and the S locus glycoproteins are encoded by genes located at the S locus, which controls the self-incompatibility response in Brassica. In class II self-incompatibility haplotypes, S locus glycoproteins can be encoded by two different genes, SLGA and SLGB. In this study, we analyzed the sequences of these genes in several independently isolated plants, all of which carry the same S haplotype (S(2)). Two groups of S(2) haplotypes could be distinguished depending on whether SRK was associated with SLGA or SLGB. Surprisingly, SRK alleles from the two groups could be distinguished at the sequence level, suggesting that recombination rarely occurs between haplotypes of the two groups. An analysis of the distribution of polymorphisms along the S domain of SRK showed that hypervariable domains I and II tend to be conserved within haplotypes but to be highly variable between haplotypes. This is consistent with these domains playing a role in the determination of haplotype specificity. PMID:11606555

  5. The Preconscious: Locus for Significant Written Compositions.

    ERIC Educational Resources Information Center

    Alley, Alvin D.

    1979-01-01

    The author suggests that the preconscious is the true locus of significant prose because of its greater amount of freedom to gather, compare, and rearrange ideas, and that the ultimate challenge to teachers of composition is to give freedom to their students' preconscious processes. (KC)

  6. Exercise Adherence and Locus of Control.

    ERIC Educational Resources Information Center

    Geshuri, Yosef; Glahn, Ronald

    In 1990, a study was conducted to investigate the relationship between students' locus of control and the extent to which they participated in a voluntary exercise program. First-time participants in the "Shape Up" program offered at the Porterville College Fitness Center during the summer and fall semesters of 1990 were identified through the…

  7. Dental Outpatients: Health Locus of Control Correlates.

    ERIC Educational Resources Information Center

    Ludenia, Krista; Donham, Greg W.

    1983-01-01

    Examined relationships among specific personality variables, the Multidimensional Health Locus of Control Scales, and criterion-based ratings by staff dentists with dental outpatients (N=101). Found a consistent relationship between the perception that health is maintained by engaging in health-related behaviors and individual difference measures…

  8. Dental Outpatients: Health Locus of Control Correlates.

    ERIC Educational Resources Information Center

    Ludenia, Krista; Donham, Greg W.

    1983-01-01

    Examined relationships among specific personality variables, the Multidimensional Health Locus of Control Scales, and criterion-based ratings by staff dentists with dental outpatients (N=101). Found a consistent relationship between the perception that health is maintained by engaging in health-related behaviors and individual difference measures…

  9. Multidimensionality of Locus of Control in Females.

    ERIC Educational Resources Information Center

    Kearney, Maureen J.; Kearney, James F.

    The Internal-External (I-E) Locus of Control scale (Rotter, 1966) was administered to 185 male and 185 female university students. The resulting scores were factored, producing two factors for males and four for females. The male factors were the generally-accepted "luck" and "powerful others"; for women, however, the "powerful others" dimension…

  10. Locus of Control, Social Class, and Learning.

    ERIC Educational Resources Information Center

    Vasquez, James A.

    The relationship between locus of control, social class, and learning processes were reviewed by analyzing: (1) externality as a function of socioeconomic status, i.e., the lower the status, the greater the degree of externality; (2) the impact of the early home environment on the child's learning and development; (3) classroom and teacher…

  11. Relation Between Death Anxiety, Belief in Afterlife, and Locus of Control

    ERIC Educational Resources Information Center

    Berman, Alan L.; Hays, James E.

    1973-01-01

    College-age students were given a four-part questionnaire consisting of: (1) Rotter's Internal-External Locus of Control Scale, (2) the Belief in Afterlife Scale-Form A, (3) Templer's Death Anxiety Scale, and (4) Lester's Fear of Death Scale. In general, the findings suggest that the relationship between death and afterlife beliefs is weak.…

  12. Locus of Control, Self-Reported Depression, and Perceived Causes of Depression

    ERIC Educational Resources Information Center

    Calhoun, Lawrence G.; And Others

    1974-01-01

    Examines the relation of depression to locus of control and to the perceived causes of depression in a nonpsychiatric population. Findings suggest that adolescent females tend to hold themselves more responsible than males for unsatisfactory personal situations, and this extends to the attribution of causes for unhappy moods. (Author/PC)

  13. The Relationship of Locus of Control to Career Maturity and Work Attitudes.

    ERIC Educational Resources Information Center

    McIntire, Walter G.; And Others

    1978-01-01

    The extent to which locus of control as a general expectancy model relates to career maturity was measured by the Career Maturity Inventory (Crites) and the Career Development Inventory (Super and Forrest). The most striking finding was the career maturity advantage of the internally oriented student. (MF)

  14. Locus of Control Measures among American Indians: Cluster Structure Analytic Characteristics.

    ERIC Educational Resources Information Center

    Trimble, Joseph E.; Richardson, Susan S.

    1982-01-01

    Locus of control scales were administered to 740 American Indian adults. Factor analysis and hierarchical cluster analysis substantiated previous findings with Blacks of a separation of personal control from ideological control. Clusters obtained with American Indians related to trust, personal control, race ideology, control ideology, and a…

  15. Locus of Control, Self-Reported Depression, and Perceived Causes of Depression

    ERIC Educational Resources Information Center

    Calhoun, Lawrence G.; And Others

    1974-01-01

    Examines the relation of depression to locus of control and to the perceived causes of depression in a nonpsychiatric population. Findings suggest that adolescent females tend to hold themselves more responsible than males for unsatisfactory personal situations, and this extends to the attribution of causes for unhappy moods. (Author/PC)

  16. An examination and appreciation of the dimensions of locus of control in psychosis: issues and relationships between constructs and measurement.

    PubMed

    Hutcheson, C; Fleming, M P; Martin, C R

    2014-12-01

    Internal locus of control is associated with better psychological outcomes in comparison with external locus of control. Individuals experiencing a psychotic episode have a more external orientation, an externalizing bias for negative events and associations between paranoid delusions and external locus of control. The concept of multidimensional locus of control as measured by the Multidimensional Health Locus of Control (MHLC) scale may provide important information about the nature and course of psychotic symptoms. This narrative review explored the relationship between the orientation of locus of control and psychosis. Few studies have used the scale in samples with people experiencing psychotic symptoms and so there is limited evidence about the psychometric properties of the MHLC scale within this client group, although the findings from studies that have explored the properties of this tool in other groups suggest it could be a valuable instrument for use in psychosis. Further research is required to determine both the relationship between locus of control and psychosis in terms of therapeutic factors and outcome, and also the veracity of the MHLC scale as an instrument of choice in this group. © 2014 John Wiley & Sons Ltd.

  17. Self concepts, health locus of control and cognitive functioning associated with health-promoting lifestyles in schizophrenia.

    PubMed

    Chuang, Shu Ping; Wu, Jo Yung Wei; Wang, Chien Shu; Liu, Chia Hsuan; Pan, Li Hsiang

    2016-10-01

    The study aimed to investigate the relationship among self concepts, health locus of control, cognitive functioning and health-promoting lifestyles in patients diagnosed with schizophrenia. We examined health-promoting lifestyles through self-efficacy, self-esteem, health locus of control and neurocognitive factors. Fifty-six people with schizophrenia were enrolled in the study group. All subjects participated in the self-esteem (Rosenberg Self-Esteem Scale), self-efficacy (General Self-Efficacy Scale), health locus of control (The Multidimensional Health Locus of Control Scales), health-promoting lifestyles (Health Promotion Life-style Profile-II) and a series of neurocognitive measures. Stepwise regression analysis revealed that self-efficacy, internal health locus of control and attentional set-shifting accounted for 42% of the variance in total health-promoting lifestyles scores. Self-efficacy, self-esteem, internal and powerful others health locus of control and attentional set-shifting were significant predictors for domains of health-promoting lifestyles, respectively. Study findings can help mental health professionals maintain and improve health-promoting behaviors through a better understanding of self-esteem, self-efficacy, health locus of control and neurocognitive functioning among people with schizophrenia. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. The Impact of Locus of Control on Language Achievement

    ERIC Educational Resources Information Center

    Nodoushan, Mohammad Ali Salmani

    2012-01-01

    This study hypothesized that students' loci of control affected their language achievement. 198 (N = 198) EFL students took the Rotter's (1966) locus of control test and were classified as locus-internal (ni = 78), and locus-external (ne = 120). They then took their ordinary courses and at the end of the semester, they were given their exams.…

  19. Cognitive Evaluation Theory, Locus of Control and Positive Verbal Feedback.

    ERIC Educational Resources Information Center

    Lonky, Edward; Reihman, Jacqueline

    This study tests the hypothesis that individual differences in locus of control orientation may mediate elementary school students' responses to positive verbal feedback. A total of 30 kindergarten through fourth grade subjects were assessed for locus of control orientation using the Bialer Children's Locus of Control Questionnaire. To establish a…

  20. Self-Esteem, Locus of Control, and Student Achievement.

    ERIC Educational Resources Information Center

    Sterbin, Allan; Rakow, Ernest

    The direct effects of locus of control and self-esteem on standardized test scores were studied. The relationships among the standardized test scores and measures of locus of control and self-esteem for 12,260 students from the National Education Longitudinal Study 1994 database were examined, using the same definition of locus of control and…

  1. Locus of control and the fundamental dimensions of moods.

    PubMed

    Henson, H N; Chang, E C

    1998-06-01

    The present study examined the association between locus of control and positive and negative moods in 253 college students. Using the PANAS-X, designed by Watson and Clark, individuals scoring high on internal locus of control also scored higher across different dimensions of positive mood. Conversely, individuals scoring high on external locus of control had higher scores across different dimensions of negative mood.

  2. Rock Finding

    ERIC Educational Resources Information Center

    Rommel-Esham, Katie; Constable, Susan D.

    2006-01-01

    In this article, the authors discuss a literature-based activity that helps students discover the importance of making detailed observations. In an inspiring children's classic book, "Everybody Needs a Rock" by Byrd Baylor (1974), the author invites readers to go "rock finding," laying out 10 rules for finding a "perfect" rock. In this way, the…

  3. Rock Finding

    ERIC Educational Resources Information Center

    Rommel-Esham, Katie; Constable, Susan D.

    2006-01-01

    In this article, the authors discuss a literature-based activity that helps students discover the importance of making detailed observations. In an inspiring children's classic book, "Everybody Needs a Rock" by Byrd Baylor (1974), the author invites readers to go "rock finding," laying out 10 rules for finding a "perfect" rock. In this way, the…

  4. Analysis of meiotic segregation, using single-sperm typing: Meiotic drive at the myotonic dystrophy locus

    SciTech Connect

    Leeflang, E.P.; Arnheim, N.; McPeek, M.S.

    1996-10-01

    Meiotic drive at the myotonic dystrophy (DM) locus has recently been suggested as being responsible for maintaining the frequency, in the human population, of DM chromosomes capable of expansion to the disease state. In order to test this hypothesis, we have studied samples of single sperm from three individuals heterozygous at the DM locus, each with one allele larger and one allele smaller than 19 CTG repeats. To guard against the possible problem of differential PCR amplification rates based on the lengths of the alleles, the sperm were also typed at another closely linked marker whose allele size was unrelated to the allele size at the DM locus. Using statistical models specifically designed to study single-sperm segregation data, we find no evidence of meiotic segregation distortion. The upper limit of the two-sided 95% confidence interval for the estimate of the common segregation probability for the three donors is at or below .515 for all models considered, and no statistically significant difference from .5 is detected in any of the models. This suggests that any greater amount of segregation distortion at the myotonic dystrophy locus must result from events following sperm ejaculation. The mathematical models developed make it possible to study segregation distortion with high resolution by using sperm-typing data from any locus. 26 refs., 1 fig., 8 tabs.

  5. Confirmation of Single-Locus Sex Determination and Female Heterogamety in Willow Based on Linkage Analysis.

    PubMed

    Chen, Yingnan; Wang, Tiantian; Fang, Lecheng; Li, Xiaoping; Yin, Tongming

    2016-01-01

    In this study, we constructed high-density genetic maps of Salix suchowensis and mapped the gender locus with an F1 pedigree. Genetic maps were separately constructed for the maternal and paternal parents by using amplified fragment length polymorphism (AFLP) markers and the pseudo-testcross strategy. The maternal map consisted of 20 linkage groups that spanned a genetic distance of 2333.3 cM; whereas the paternal map contained 21 linkage groups that covered 2260 cM. Based on the established genetic maps, it was found that the gender of willow was determined by a single locus on linkage group LG_03, and the female was the heterogametic gender. Aligned with mapped SSR markers, linkage group LG_03 was found to be associated with chromosome XV in willow. It is noteworthy that marker density in the vicinity of the gender locus was significantly higher than that expected by chance alone, which indicates severe recombination suppression around the gender locus. In conclusion, this study confirmed the findings on the single-locus sex determination and female heterogamety in willow. It also provided additional evidence that validated the previous studies, which found that different autosomes evolved into sex chromosomes between the sister genera of Salix (willow) and Populus (poplar).

  6. Professionalization and its effect on health locus of control among Indian dental students.

    PubMed

    Acharya, Shashidhar

    2008-01-01

    The objectives of this study were to assess the effect of different stages of professionalization on the health locus of control of students in an Indian dental school and to describe possible factors that may influence the health locus of control among dental students. The multidimensional health locus of control (MHLC) scale was distributed to 372 undergraduate dental students at one school in India, and 325 students returned completed forms. Comparison of the mean scores for the three MHLC subscales (Internal, Chance, and Powerful Others) from first year to final year showed that the mean Internal score remained unchanged in the first and second year, but decreased in the third year and rose sharply in the final year. The mean score for the Internal subscale was consistently higher, followed by the mean scores for Powerful Others in all the years of study. No significant differences were observed between mean scores of the MHLC subscales when compared with gender, previous treatment histories, and missing appointments. Those with self-perceived oral problems were found to have a lower internal locus of control than those who did not report any. The findings of this study provided credible support for the MHLC model in assessing changing health attitudes and may provide a basis for dental educators to effect changes in the locus of control among students.

  7. Analysis of the 3' Cmu region of the rabbit Ig heavy chain locus.

    PubMed

    Lanning, Dennis K; Zhai, Shi-Kang; Knight, Katherine L

    2003-05-08

    The immunoglobulin D (IgD) antibody class was, for many years, identified only in primates, rodents and teleost fish. The limited distribution of IgD among vertebrates suggested that IgD is a functionally redundant antibody class that has been lost by many vertebrate species during evolution. The recent identification of IgD in artiodactyls, however, suggests that IgD might be more widely expressed among vertebrates than previously thought, possibly serving a unique role in immunity. IgD expression has been searched for but not detected in rabbits. In order to search directly for a rabbit Cdelta locus encoding the constant region of IgD, we determined the nucleotide sequence of 13.5 kb of genomic DNA downstream of the rabbit Cmu locus. We did not find a rabbit Cdelta locus in this region, but found instead that this region is densely populated by repetitive elements, including a long interspersed DNA element repeat, six C repeats, and two processed pseudogenes. We conclude that the rabbit probably does not express IgD because there is no Cdelta locus immediately downstream of the rabbit Cmu locus.

  8. Confirmation of Single-Locus Sex Determination and Female Heterogamety in Willow Based on Linkage Analysis

    PubMed Central

    Fang, Lecheng; Li, Xiaoping; Yin, Tongming

    2016-01-01

    In this study, we constructed high-density genetic maps of Salix suchowensis and mapped the gender locus with an F1 pedigree. Genetic maps were separately constructed for the maternal and paternal parents by using amplified fragment length polymorphism (AFLP) markers and the pseudo-testcross strategy. The maternal map consisted of 20 linkage groups that spanned a genetic distance of 2333.3 cM; whereas the paternal map contained 21 linkage groups that covered 2260 cM. Based on the established genetic maps, it was found that the gender of willow was determined by a single locus on linkage group LG_03, and the female was the heterogametic gender. Aligned with mapped SSR markers, linkage group LG_03 was found to be associated with chromosome XV in willow. It is noteworthy that marker density in the vicinity of the gender locus was significantly higher than that expected by chance alone, which indicates severe recombination suppression around the gender locus. In conclusion, this study confirmed the findings on the single-locus sex determination and female heterogamety in willow. It also provided additional evidence that validated the previous studies, which found that different autosomes evolved into sex chromosomes between the sister genera of Salix (willow) and Populus (poplar). PMID:26828940

  9. Genetic architecture and evolution of the S locus supergene in Primula vulgaris.

    PubMed

    Li, Jinhong; Cocker, Jonathan M; Wright, Jonathan; Webster, Margaret A; McMullan, Mark; Dyer, Sarah; Swarbreck, David; Caccamo, Mario; Oosterhout, Cock van; Gilmartin, Philip M

    2016-12-02

    Darwin's studies on heterostyly in Primula described two floral morphs, pin and thrum, with reciprocal anther and stigma heights that promote insect-mediated cross-pollination. This key innovation evolved independently in several angiosperm families. Subsequent studies on heterostyly in Primula contributed to the foundation of modern genetic theory and the neo-Darwinian synthesis. The established genetic model for Primula heterostyly involves a diallelic S locus comprising several genes, with rare recombination events that result in self-fertile homostyle flowers with anthers and stigma at the same height. Here we reveal the S locus supergene as a tightly linked cluster of thrum-specific genes that are absent in pins. We show that thrums are hemizygous not heterozygous for the S locus, which suggests that homostyles do not arise by recombination between S locus haplotypes as previously proposed. Duplication of a floral homeotic gene 51.7 million years (Myr) ago, followed by its neofunctionalization, created the current S locus assemblage which led to floral heteromorphy in Primula. Our findings provide new insights into the structure, function and evolution of this archetypal supergene.

  10. Health locus of control, acculturation, and health-related Internet use among Latinas.

    PubMed

    Roncancio, Angelica M; Berenson, Abbey B; Rahman, Mahbubur

    2012-01-01

    Among individuals residing in the United States, the Internet is the third most used source for obtaining health information. Little is known, however, about its use by Latinas. To understand health-related Internet use among Latinas, the authors examined it within the theoretical frameworks of health locus of control and acculturation. The authors predicted that acculturation would serve as a mediator between health locus of control and health-related Internet use, age and health-related Internet use, income and health-related Internet use, and education and health-related Internet use. Data were collected via a 25-minute self-report questionnaire. The sample consisted of 932 young (M age = 21.27 years), low-income Latinas. Using structural equation modeling, the authors observed that acculturation partially mediated the relation between health locus of control and health-related Internet use and fully mediated the relations among age, income, and Internet use. An internal health locus of control (p < .001), younger age (p < .001), and higher income (p < .001) were associated with higher levels of acculturation. Higher levels of acculturation (p < .001) and an internal health locus of control (p < .004) predicted health-related Internet use. The Internet is a powerful tool that can be used to effectively disseminate information to Latinas with limited access to health care professionals. These findings can inform the design of Internet-based health information dissemination studies targeting Latinas.

  11. Can having internal locus of control insure against negative shocks? Psychological evidence from panel data

    PubMed Central

    Buddelmeyer, Hielke; Powdthavee, Nattavudh

    2017-01-01

    We investigate whether the intensity of emotional pain following a negative shock is different across the distribution of a person’s locus of control – the extent to which individuals believe that their actions can influence future outcomes. Using panel data from Australia, we show that individuals with strong internal locus of control are psychologically insured against own and others’ serious illness or injury, close family member detained in jail, becoming a victim of property crime and death of a close friend, but not against the majority of other life events. The buffering effects vary across gender. Our findings thus add to the existing literature on the benefits of internal locus of control. PMID:28713185

  12. A locus problem solved by using a mechanism with three dyads and two leading elements

    NASA Astrophysics Data System (ADS)

    Popescu, I.; Sass, L.; Romanescu, A. E.

    2016-11-01

    In Geometry there are many types of loci, solved by means of classic geometrical considerations and yielding lines and arcs of circles or conics. Yet more complicated locus can be solved by means of the Theory of Mechanisms. Our research starts from a locus and provides a solution based on the Theory of Mechanisms, finding the equivalent mechanism. The structural and cinematic analysis of the mechanism is made, determining the trajectory of a point representing the locus which presents interest. The mechanism has three dyads and two leading elements, for which the movements were correlated by means of a coefficient q. For various values of q different loci were obtained, similar for close values of q but different for significantly different values of q.

  13. Assessing God locus of control as a factor in college students' alcohol use and sexual behavior.

    PubMed

    Moore, Erin W

    2014-01-01

    This study explored God locus of control beliefs (i.e., God's control over behavior) regarding their influence on alcohol use and sexual behavior as an alternative religiosity measure to religious behaviors, which does not capture perceived influence of religiosity. Additionally, demographic differences in religious beliefs were explored. College students aged 18-24 (N = 324) completed a survey between April 2012 and March 2013. Principal components and multivariate analyses were conducted. Findings suggest that measures provide reliable, valid data from college students. God locus of control is linked to not consuming alcohol or engaging in sex. There were differences regarding relationship status and religious denomination. God locus of control beliefs are an appropriate construct for collecting data about college students' religiosity. Furthermore, health educators at faith-based institutions could incorporate this construct into their programming, encouraging abstinence but also behaving responsibly for those who do drink and are sexually experienced.

  14. Locus equations and coarticulation in three Australian languages.

    PubMed

    Graetzer, Simone; Fletcher, Janet; Hajek, John

    2015-02-01

    Locus equations were applied to F2 data for bilabial, alveolar, retroflex, palatal, and velar plosives in three Australian languages. In addition, F2 variance at the vowel-consonant boundary, and, by extension, consonantal coarticulatory sensitivity, was measured. The locus equation slopes revealed that there were place-dependent differences in the magnitude of vowel-to-consonant coarticulation. As in previous studies, the non-coronal (bilabial and velar) consonants tended to be associated with the highest slopes, palatal consonants tended to be associated with the lowest slopes, and alveolar and retroflex slopes tended to be low to intermediate. Similarly, F2 variance measurements indicated that non-coronals displayed greater coarticulatory sensitivity to adjacent vowels than did coronals. Thus, both the magnitude of vowel-to-consonant coarticulation and the magnitude of consonantal coarticulatory sensitivity were seen to vary inversely with the magnitude of consonantal articulatory constraint. The findings indicated that, unlike results reported previously for European languages such as English, anticipatory vowel-to-consonant coarticulation tends to exceed carryover coarticulation in these Australian languages. Accordingly, on the F2 variance measure, consonants tended to be more sensitive to the coarticulatory effects of the following vowel. Prosodic prominence of vowels was a less significant factor in general, although certain language-specific patterns were observed.

  15. Thought recognition, locus of control, and adolescent well-being.

    PubMed

    Kelley, T M; Stack, S A

    2000-01-01

    This paper reviews the underlying assumptions and principles of a new psychological paradigm, Psychology of Mind/Health Realization (POM/HR). A core concept of POM/HR, thought recognition, is then compared with locus of control (LOC), a well-known psychological construct. Next, the relationship of LOC to self-reported happiness and satisfaction is examined from the perspective of POM/HR, using a sample of 1,872 at-risk adolescents from 17 nations. The findings support POM/HR predictions that (1) locus of control would account for a slight portion of the variance in adolescent happiness and satisfaction, (2) circumstances that are external in nature would account for additional variance in happiness and satisfaction, and (3) there would be little difference in self-reported happiness and satisfaction between adolescents self-reporting high and low internal LOC. Further, it was conjectured that the adolescents mistook superficial emotions, such as excitement and security, for genuine feelings of well-being. Finally, the implications for prevention and intervention efforts with at-risk adolescents are discussed.

  16. Histamine excites noradrenergic neurons in locus coeruleus in rats.

    PubMed

    Korotkova, Tatiana M; Sergeeva, Olga A; Ponomarenko, Alexei A; Haas, Helmut L

    2005-07-01

    Histamine is implicated in the control of many brain functions, in particular the control of arousal. Histaminergic neurons send dense projections through the entire brain, including the locus coeruleus (LC)--the main noradrenergic (NAergic) nucleus. In this study, we have examined the effect of bath-applied histamine on cells in the LC by single-unit recordings in slices and the expression of histamine receptors in this area by single-cell RT-PCR. Histamine (10 microM) increased the firing of NAergic cells to 130+/-9% of control, 100 microM to 256+/-58% of control. This excitation was unaffected by blocking synaptic transmission. Histamine-mediated excitation was blocked by an H1 receptor antagonist, mepyramine, in 78% of cells and by cimetidine, an H2 receptor antagonist, in 42% of cells, but not by the H3 receptor antagonist, thioperamide. RT-PCR revealed that mRNA for the H1 receptor was expressed in 77% of isolated LC neurons, mRNA for the H2 receptor in 41% of LC neurons and H3 receptors in 29%. These findings underline the coordination between aminergic systems and suggest that the arousal induced by the histamine system could involve excitation of noradrenergic neurons in the locus coeruleus.

  17. Genetic variability at the PARK16 locus

    PubMed Central

    Tucci, Arianna; Nalls, Mike A; Houlden, Henry; Revesz, Tamas; Singleton, Andrew B; Wood, Nicholas W; Hardy, John; Paisán-Ruiz, Coro

    2010-01-01

    Parkinson's disease (PD) is a complex neurodegenerative disease which is clinically heterogeneous and pathologically consists of loss of dopaminergic neurons in the substantia nigra and intracytoplasmic neuronal inclusions containing alpha-synuclein aggregations known as Lewy bodies. Although the majority of PD is idiopathic, pathogenic mutations in several mendelian genes have been successfully identified through linkage analyses. To identify susceptibility loci for idiopathic PD, several genome-wide association studies (GWAS) within different populations have recently been conducted in both idiopathic and familial forms of PD. These analyses have confirmed SNCA and MAPT as loci harboring PD susceptibility. In addition, the GWAS identified several other genetic loci suggestively associated with the risk of PD; among these, only one was replicated by two different studies of European and Asian ancestries. Hence, we investigated this novel locus known as PARK16 for coding mutations in a large series of idiopathic pathologically proven PD cases, and also conducted an association study in a case–control cohort from the United Kingdom. An association between a novel RAB7L1 mutation, c.379-12insT, and disease (P-value=0.0325) was identified. Two novel coding variants present only in the PD cohort were also identified within the RAB7L1 (p.K157R) and SLC41A1 (p.A350V) genes. No copy number variation analyses have yet been performed within this recently identified locus. We concluded that, although both coding variants and risk alleles within the PARK16 locus seem to be rare, further molecular analyses within the PARK16 locus and within different populations are required in order to examine its biochemical role in the disease process. PMID:20683486

  18. Molecular Identification of the Schwannomatosis Locus

    DTIC Science & Technology

    2004-07-01

    AD Award Number: DAMD17-03-1-0445 TITLE: Molecular Identification of the Schwannomatosis Locus PRINCIPAL INVESTIGATOR: Mia M. MacCollin, M.D...COVERED (Leave blank) July 2004 Annual (1 Jul 2003 - 30 Jun 2004) 4. TITLE AND SUBTITLE 5. FUNDING NUMBERS Molecular Identification of the Schwannomatosis...linkage and loss of heterozygosity analyses. 3. To determine the molecular mechanism of tumor formation in these patients using complementary molecular

  19. Effect of sliding locus on subsurface crack formation in ultra-high-molecular-weight polyethylene knee component.

    PubMed

    Todo, S; Tomita, N; Kitakura, T; Yamano, Y

    1999-01-01

    The objective of this study was to evaluate the effect of sliding locus on fatigue destruction of ultra-high-molecular-weight polyethylene (UHMWPE) in order to design a durable total knee arthroplasty (TKA) articulation. Two-dimensional sliding fatigue testing was performed under two simplified patterns of articulating interface sliding locus. Scanning acoustic tomography (SAT) was used for observation of subsurface cracks in UHMWPE specimens. A high rate of subsurface crack formation was observed when the movement was reciprocated on two different loci, in contrast with that on a single linear locus. This finding suggests that crack formation or propagation in UHMWPE components is accelerated not only by the compressive stress but also by complicated articulating movement locus.

  20. Affected-sib-pair analyses reveal support of prior evidence for a susceptibility locus for bipolar disorder, on 21q

    SciTech Connect

    Detera-Wadleigh, S.D.; Badner, J.A.; Goldin, L.R.

    1996-06-01

    In 22 multiplex pedigrees screened for linkage to bipolar disorder, by use of 18 markers on chromosome 21q, single-locus affected-sib-pair (ASP) analysis detected a high proportion (57%-62%) of alleles shared identical by descent (IBD), with P values of .049-.0008 on nine marker loci. Multilocus ASP analyses revealed locus trios in the distal region between D21S270 and D21S171, with excess allele sharing (nominal P values <.01) under two affection-status models, ASM I (bipolars and schizoaffectives) and ASM II (ASM I plus recurrent unipolars). In addition, under ASM I, the proximal interval spanned by D21S1436 and D21S65 showed locus trios with excess allele sharing (nominal P values of .03-.0003). These findings support prior evidence that a susceptibility locus for bipolar disorder is on 21q. 38 refs., 4 tabs.

  1. Diagnosing the locus of trust: A temporal perspective for trustor, trustee, and dyadic influences on perceived trustworthiness.

    PubMed

    Jones, Stephen L; Shah, Priti Pradhan

    2016-03-01

    Extant trust research champions 3 different centers of action that determine perceptions of trust: the trustor (the individual rendering trust judgments), the trustee (the party being trusted), and the trustor-trustee dyad. We refer to the centers of action as loci of trust. Thus far, researchers have investigated determinants residing within each locus independently but have not concurrently investigated all 3 loci. Thus, the relative influence of each locus on perceptions of trust is unknown. Nor is it known how the influence of each locus changes with time. Where is the dominant locus of trust? And how does it change over time? We address these questions by examining the influence of trustors, trustees, and dyads on perceived ability, benevolence, and integrity. We find that trustor influence decreases over time while trustee and dyadic influences increase. We also find that the trustor is the dominant locus for perceived ability, benevolence, and integrity initially, but over time the trustee becomes the dominant locus for perceived ability and integrity. For perceived benevolence, the trustor remains the dominant driver over time.

  2. How visualization layout relates to locus of control and other personality factors.

    PubMed

    Ziemkiewicz, Caroline; Ottley, Alvitta; Crouser, R Jordan; Yauilla, Ashley Rye; Su, Sara L; Ribarsky, William; Chang, Remco

    2013-07-01

    Existing research suggests that individual personality differences are correlated with a user's speed and accuracy in solving problems with different types of complex visualization systems. We extend this research by isolating factors in personality traits as well as in the visualizations that could have contributed to the observed correlation. We focus on a personality trait known as "locus of control” (LOC), which represents a person's tendency to see themselves as controlled by or in control of external events. To isolate variables of the visualization design, we control extraneous factors such as color, interaction, and labeling. We conduct a user study with four visualizations that gradually shift from a list metaphor to a containment metaphor and compare the participants' speed, accuracy, and preference with their locus of control and other personality factors. Our findings demonstrate that there is indeed a correlation between the two: participants with an internal locus of control perform more poorly with visualizations that employ a containment metaphor, while those with an external locus of control perform well with such visualizations. These results provide evidence for the externalization theory of visualization. Finally, we propose applications of these findings to adaptive visual analytics and visualization evaluation.

  3. Young adult women: lifestyle and health locus of control.

    PubMed

    Schank, M J; Lawrence, D M

    1993-08-01

    A study of 76 young adult women, 38 nursing students and 38 non-nursing students, examined their lifestyle practices and health locus of control (HLOC). Findings revealed a significant difference between reported lifestyle practices and the career choice of these young adult women. The lifestyle practice areas in which the most notable differences occurred included: use of seat belts, frequency of alcohol use, frequency of junk food intake, use of illegal drugs and hours of sleep per night. While differences in HLOC were evident between nursing and non-nursing students, no relationship was found between a young woman's HLOC and her lifestyle practices. The differences in HLOC showed that nurses were more frequently pure internal whereas most non-nurses were found to be double externals. The pure chance category had the fewest number of respondents. The difference in lifestyle practices between these young adult women can be explained in part by curriculum variations, as can the difference in HLOC patterns.

  4. A strabismus susceptibility locus on chromosome 7p

    PubMed Central

    Parikh, Vaishali; Shugart, Yin Yao; Doheny, Kimberly F.; Zhang, Jie; Li, Lan; Williams, John; Hayden, David; Craig, Brian; Capo, Hilda; Chamblee, Denise; Chen, Cathy; Collins, Mary; Dankner, Stuart; Fiergang, Dean; Guyton, David; Hunter, David; Hutcheon, Marcia; Keys, Marshall; Morrison, Nancy; Munoz, Michelle; Parks, Marshall; Plotsky, David; Protzko, Eugene; Repka, Michael X.; Sarubbi, Maria; Schnall, Bruce; Siatkowski, R. Michael; Traboulsi, Elias; Waeltermann, Joanne; Nathans, Jeremy

    2003-01-01

    Strabismus has been known to have a significant genetic component, but the mode of inheritance and the identity of the relevant genes have been enigmatic. This paper reports linkage analysis of nonsyndromic strabismus. The principal results of this study are: (i) the demonstrated feasibility of identifying and recruiting large families in which multiple members have (or had) strabismus; (ii) the linkage in one large family of a presumptive strabismus susceptibility locus to 7p22.1 with a multipoint logarithm of odds score of 4.51 under a model of recessive inheritance; and (iii) the failure to observe significant linkage to 7p in six other multiplex families, consistent with genetic heterogeneity among families. These findings suggest that it will be possible to localize and ultimately identify strabismus susceptibility genes by linkage analysis and mutation screening of candidate genes. PMID:14519848

  5. Regulatory organization of the staphylococcal sae locus.

    PubMed

    Adhikari, Rajan P; Novick, Richard P

    2008-03-01

    This paper describes an investigation of the complex internal regulatory circuitry of the staphylococcal sae locus and the impact of modifying this circuitry on the expression of external genes in the sae regulon. The sae locus contains four genes, the saeR and S two-component signalling module (TCS), and saeP and Q, two upstream genes of hitherto unknown function. It is expressed from two promoters, P(A)sae, which transcribes only the TCS, and P(C)sae, which transcribes the entire locus. A bursa aurealis (bursa) transposon insertion in saeP in a derivative of Staphylococcus aureus NCTC 8325 has a profound effect on sae function. It modifies the activity of the TCS, changing the expression of many genes in the sae regulon, even though transcription of the TCS (from P(A)sae) is not interrupted. Moreover, these effects are not due to disruption of saeP since an in-frame deletion in saeP has essentially no phenotype. The phenotype of S. aureus strain Newman is remarkably similar to that of the saeP : : bursa and this similarity is explained by an amino acid substitution in the Newman saeS gene that is predicted to modify profoundly the signalling function of the protein. This concurrence suggests that the saeP : : bursa insertion affects the signalling function of saeS, a suggestion that is supported by the ability of an saeQR clone, but not an saeR clone, to complement the effects of the saeP : : bursa insertion.

  6. Deregulation of small non-coding RNAs at the DLK1-DIO3 imprinted locus predicts lung cancer patient outcome

    PubMed Central

    Enfield, Katey S.S.; Martinez, Victor D.; Marshall, Erin A.; Stewart, Greg L.; Kung, Sonia H.Y.; Enterina, Jhon R.; Lam, Wan L.

    2016-01-01

    Deregulation of the imprinted DLK1-DIO3 locus at chromosome 14q32.1-14q32.31 has been associated with developmental and respiratory disorders, including cancer. In lung cancer, deregulation of imprinting at DLK1-DIO3 was recently described in smokers. Deregulated expression of a microRNA (miRNA) cluster mapping to this locus was also associated with patient outcome, suggesting the importance of this locus to lung cancer disease phenotypes. The DLK1-DIO3 locus is complex, and encodes several protein-coding genes, in addition to long and short non-coding RNAs. While the role of miRNAs is established, the biological importance of another relevant class of small RNAs, PIWI-interacting RNAs (piRNAs), has not been investigated. When somatically expressed, piRNAs regulate gene transcription through DNA methylation. Interestingly, their expression patterns have been observed to be altered in cancer and correlated with patient outcome. Here, we characterize the somatic expression of piRNAs encoded at DLK1-DIO3 in two independent cohorts of lung adenocarcinoma and lung squamous cell carcinoma and investigate their associations with patient outcome. We find that the expression of piRNAs encoded at DLK1-DIO3 enhances the prognostic potential of small non-coding RNAs specific to this locus in predicting patient outcome, further emphasizing the importance of regulation at this locus in lung cancer. PMID:27829231

  7. Gender Differences in the Roles of Religion and Locus of Control on Alcohol Use and Smoking Among African Americans

    PubMed Central

    Holt, Cheryl L.; Roth, David L.; Huang, Jin; Clark, Eddie M.

    2015-01-01

    Objective: Spiritual health locus of control reflects a person’s beliefs about the role of a higher power in one’s health and can take an active or a passive perspective. The purpose of this study was to examine the moderating role of active and passive spiritual health locus of control beliefs on select health risk behaviors—alcohol use and smoking—in a national sample of African Americans. Method: A national U.S. probability sample of study participants (N = 2,370; 906 men; 1,464 women) completed a telephone survey assessing religious involvement, active and passive spiritual health locus of control beliefs, and alcohol consumption and smoking status. Because of previous research suggesting gender-specific associations among these variables, moderation analyses were conducted separately for men and women. Results: For women, higher religious behaviors were associated with less alcohol use, and this effect was more pronounced among those high in active spiritual health locus of control. For men, the combination of lower religious beliefs and higher passive spiritual health locus of control was associated with more alcohol consumption and more days of consuming five or more alcoholic drinks. No moderation effects were found for smoking. Conclusions: This study identified unique patterns of religious involvement and spiritual health locus of control beliefs that are associated with alcohol use, including heavy drinking, among African Americans. These findings have implications for pastoral counseling and other faith-based approaches for addressing heavy drinking in African Americans. PMID:25978836

  8. Locus of control, quality of life, anxiety, and depression among Malaysian breast cancer patients: The mediating role of uncertainty.

    PubMed

    Pahlevan Sharif, Saeed

    2017-04-01

    The main objective of this study was to investigate the mediating role of uncertainty in the relationship between locus of control with quality of life, anxiety, and depression. A descriptive and correlational survey was conducted in a private hospital in Kuala Lumpur, Malaysia. A convenience sample of 118 Malaysian breast cancer patients voluntarily participated in the study and responded to a set of questionnaires including: socio-demographic questionnaire, the short form of Locus of Control Scale, the Functional Assessment of Cancer Therapy-Breast (FACT-B), the Hospital Anxiety and Depression Scale (HADS), and the Short-Form Mishel Uncertainty in Illness Scale (SF-MUIS). The results revealed that breast cancer patients with higher internal locus of control and lower external locus of control experience a higher quality of life, lower anxiety, and lower depression. Also, uncertainty mediated the relationship between locus of control with quality of life and depression (quasi-significant). The findings indicated the need for early, targeted psychological interventions seeking to gradually shift cancer patients' locus of control from external to internal in order to improve their quality of life and reduce their depression and anxiety. Moreover, health care providers by providing relevant information to cancer patients, especially for externally oriented patients, can reduce their uncertainty which in turn would improve their quality of life. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. A root locus based flutter synthesis procedure

    NASA Technical Reports Server (NTRS)

    Hajela, P.

    1983-01-01

    An efficient generalized constraint is proposed in the context of a nonlinear mathematical programming approach for the minimum weight design of wing structures for flutter considerations. The approach is based on a root locus analysis procedure that is better suited for flutter redesign than the conventionally used V-g method. The proposed flutter constraint does not require an actual computation of the flutter speed, allows prescription of meaningful margins of safety in the optimized design and lends itself to elegant computation of sensitivity information. The approach is implemented and results presented for representative structural models.

  10. Root Locus Algorithms for Programmable Pocket Calculators

    NASA Technical Reports Server (NTRS)

    Wechsler, E. R.

    1983-01-01

    Two algorithms are described which allow the plotting of individual points on a root locus diagram with or without time delay. The development was performed during the design of a continuous phase shifter used in the Baseband Antenna Combiner for the Deep Space Network (DSN). The algorithms, which are expected to be useful in similar DSN efforts, are simple enough to be implemented on a programmable pocket calculator. The coordinates of the open-loop zeros and poles, the gain constant K, and the time delay T are the data inputs.

  11. Finding food

    PubMed Central

    Forsyth, Ann; Lytle, Leslie; Riper, David Van

    2011-01-01

    A significant amount of travel is undertaken to find food. This paper examines challenges in measuring access to food using Geographic Information Systems (GIS), important in studies of both travel and eating behavior. It compares different sources of data available including fieldwork, land use and parcel data, licensing information, commercial listings, taxation data, and online street-level photographs. It proposes methods to classify different kinds of food sales places in a way that says something about their potential for delivering healthy food options. In assessing the relationship between food access and travel behavior, analysts must clearly conceptualize key variables, document measurement processes, and be clear about the strengths and weaknesses of data. PMID:21837264

  12. Scrutinizing the FTO locus: compelling evidence for a complex, long-range regulatory context.

    PubMed

    Rask-Andersen, Mathias; Almén, Markus Sällman; Schiöth, Helgi B

    2015-11-01

    Single nucleotide polymorphisms (SNPs) within a genetic region including the first two introns of the gene encoding FTO have consistently been shown to be the strongest genetic factors influencing body mass index (BMI). However, this same also contains several regulatory DNA elements that affect the expression of IRX3 and IRX5, which respectively, are located approximately 500 kb and 1.2 Mbp downstream from the BMI-associated FTO locus. Through these affected regulatory elements, genetic variation at the FTO locus influences adipocyte development leading to decreased thermogenesis and increased lipid storage. These findings provide a genomic model for the functional implications of genetic variations at this locus, and also demonstrate the importance of accounting for chromatin-chromatin interactions when constructing hypotheses for the mechanisms of trait and disease-associated common genetic variants. Several consortia have generated genome-wide datasets describing different aspects of chromatin biology which can be utilized to predict functionality and propose biologically relevant descriptions of specific DNA regions. Here, we review some of the publically available data resources on genome function and organization that can be used to gain an overview of genetic regions of interest and to generate testable hypotheses for future studies. We use the BMI- and obesity-associated FTO locus as a subject as it poses an illustrative example on the value of these resources. We find that public databases strongly support long-range interactions between regulatory elements in the FTO locus with the IRXB cluster genes IRX3 and IRX5. Chromatin configuration capture data also support interactions across a large region stretching across from the RPGRIP1L gene, FTO and the IRXB gene cluster.

  13. Relationships between locus of control and paranormal beliefs.

    PubMed

    Newby, Robert W; Davis, Jessica Boyette

    2004-06-01

    The present study investigated the associations between scores on paranormal beliefs, locus of control, and certain psychological processes such as affect and cognitions as measured by the Linguistic Inquiry and Word Count. Analysis yielded significant correlations between scores on Locus of Control and two subscales of Tobacyk's (1988) Revised Paranormal Beliefs Scale, New Age Philosophy and Traditional Paranormal Beliefs. A step-wise multiple regression analysis indicated that Locus of Control was significantly related to New Age Philosophy. Other correlations were found between Tobacyk's subscales, Locus of Control, and three processes measured by the Linguistic Inquiry and Word Count.

  14. Inside the CBF locus in Poaceae.

    PubMed

    Tondelli, Alessandro; Francia, Enrico; Barabaschi, Delfina; Pasquariello, Marianna; Pecchioni, Nicola

    2011-01-01

    Several molecular evidences have been gathered in Poaceae that point out a central role of the CBF/DREB1 transcription factors in the signal transduction pathways leading to low-temperature tolerance, although to a quite different extent between crops originating from either temperate or tropical climates. A common feature of the CBF/DREB1 genes in Poaceae is their structural organization at the genome level in clusters of tandemly duplicated genes. In temperate cereals such as barley and wheat, expansion of specific multigene phylogenetic clades of CBFs that map at the Frost Resistance-2 locus has been exclusively observed. In addition, copy number variants of CBF genes between frost resistant and frost sensitive genotypes raise the question if multiple copies of the CBF/DREB1s are required to ensure freezing tolerance. On the other hand, in crops of tropical origin such as rice and maize, a smaller or less-responsive CBF regulon may have evolved, and different mechanisms might determine chilling tolerance. In this review, recent advances on the organization and diversity at the CBF cluster locus in the grasses are provided and discussed. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  15. A pilot study: locus of control and spiritual beliefs in alcoholics anonymous and smart recovery members.

    PubMed

    Li, E C; Feifer, C; Strohm, M

    2000-01-01

    To investigate whether Alcoholics Anonymous' (AA's) "higher power" concept encourages externally dependent behavior, this pilot study tested whether AA and Self Management and Recovery Training (SR) members are equal on measures of external locus of control. The AA sample (N = 48) and SR sample (N = 33) were similar in age, gender, and education levels, and both required a minimum of 8 weeks group involvement. A modified spiritual beliefs questionnaire (SBQ) was first administered to each sample to compare them on spiritual beliefs, and the drinking-related locus of control scale (DRIE) was then conducted to compare each sample on locus of control. Significant differences were found between both samples on five out of seven spiritual measures, with the AA group scoring consistently higher on these factors (p < .01). In addition, the AA sample was significantly more external on the DRIE scale than the SR sample (p = .00003). These findings suggest that AA members are generally more spiritually oriented and exhibit greater external locus of control relative to SR members. Future controlled trials are necessary to confirm whether these results are caused by particular programs or primarily due to a self-selective process.

  16. Tissue specific CTCF occupancy and boundary function at the human growth hormone locus.

    PubMed

    Tsai, Yu-Cheng; Cooke, Nancy E; Liebhaber, Stephen A

    2014-04-01

    The robust and tissue-specific activation of the human growth hormone (hGH) gene cluster in the pituitary and placenta constitutes an informative model for analysis of gene regulation. The five-gene hGH cluster is regulated by two partially overlapping sets of DNase I hypersensitive sites (HSs) that constitute the pituitary (HSI, II, III and V) and placental (HSIII, IV, and V) locus control regions (LCRs). The single placenta-specific LCR component, HSIV, is located at -30 kb to the cluster. Here we generate a series of hGH/BAC transgenes specifically modified to identify structural features of the hGH locus required for its appropriate placental expression. We find that placental specificity is dependent on the overall multigene configuration of the cluster whereas the distance between the cluster and its LCR impacts the level of placental expression. We further observe that a major function of the placental hGH LCR is to insulate the transgene locus from site-of-integration effects. This insulation activity is linked to placenta-specific occupancy of the chromatin architectural protein, CTCF, at HSIV. These data reveal a remarkable combination of structural configurations and regulatory determinants that must work in concert to insure robust and tightly controlled expression from a complex multigene locus.

  17. Structure of the MHC A and B locus promoters in hominoids

    SciTech Connect

    Vallejo, A.N.; Pease, L.R.

    1995-04-15

    The expansion and contraction of mammalian class I multigene families raises the issue as to what determines the loss or retention of family members. We propose that accumulating changes in regulatory regions result in the loss of expression of the gene products during times critical to selection, leading to the extinction of misregulated genes. The structures of promoter regions of MHC class I genes in nonhuman primates support this view. The B promoters are more homogeneous and contain regulatory elements also found in the promoters of the homologous class I genes of more distant mammals, whereas the A locus promoters were significantly more heterogeneous, have fewer sequence motifs related to known transcription factor-binding sites and have accumulated nucleotide substitutions within one of the widely conserved class I promoter elements. These findings are consistent with the view that the more polymorphic B locus is the principal MHC locus encoding functional class I Ag-presenting molecules whereas the less polymorphic A locus is assuming a secondary role as a consequence of promoter defects. 50 refs., 5 figs., 2 tabs.

  18. Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis.

    PubMed

    Won, Jungyeon; Charette, Jeremy R; Philip, Vivek M; Stearns, Timothy M; Zhang, Weidong; Naggert, Jürgen K; Krebs, Mark P; Nishina, Patsy M

    2014-01-01

    The identification of genes that modify pathological ocular phenotypes in mouse models may improve our understanding of disease mechanisms and lead to new treatment strategies. Here, we identify modifier loci affecting photoreceptor cell loss in homozygous Mfrp(rd6) mice, which exhibit a slowly progressive photoreceptor degeneration. A cohort of 63 F2 homozygous Mfrp(rd6) mice from a (B6.C3Ga-Mfrp(rd6)/J × CAST/EiJ) F1 intercross exhibited a variable number of cell bodies in the retinal outer nuclear layer at 20 weeks of age. Mice were genotyped with a panel of single nucleotide polymorphism markers, and genotypes were correlated with phenotype by quantitative trait locus (QTL) analysis to map modifier loci. A genome-wide scan revealed a statistically significant, protective candidate locus on CAST/EiJ Chromosome 1 and suggestive modifier loci on Chromosomes 6 and 11. Multiple regression analysis of a three-QTL model indicated that the modifier loci on Chromosomes 1 and 6 together account for 26% of the observed phenotypic variation, while the modifier locus on Chromosome 11 explains only an additional 4%. Our findings indicate that the severity of the Mfrp(rd6) retinal degenerative phenotype in mice depends on the strain genetic background and that a significant modifier locus on CAST/EiJ Chromosome 1 protects against Mfrp(rd6)-associated photoreceptor loss.

  19. Optimization of STR locus enrichment for STR profiling of fragmented DNA.

    PubMed

    Ham, Seon-Kyu; Kim, Se-Yong; Ahn, Jang-Won; Seo, Bo Young; Woo, Kwang-Man; Choi, Cheol Yong; Lee, Seung-Hwan

    2014-11-01

    DNA degradation is a major obstacle in gaining an accurate profile with standard DNA typing technology. Although alternative genotyping strategies such as mini-STRs and SNPs have proven to be more successful in profiling degraded DNA, these approaches also have limitations. Here, we show that locus enrichment by hybridization of degraded genomic DNA with an STR locus-specific biotinylated oligonucleotide is a powerful approach to overcome problems in STR typing of highly degraded DNA. An experimental investigation of factors affecting the efficiency of this method indicates that the choice of primer and molar ratio of primers to genomic DNA are critical factors in improving enrichment of the STR locus before genotyping with multiplex kits. In addition, we find that indirect capture rather than direct capture with magnetic beads yields better enrichment efficiency for STR locus enrichments. Using these strategies, we demonstrate an improvement in STR typing of DNA from cultured cells damaged by exposure to sunlight or UV. We suggest that this approach could be applied to highly degraded forensic samples alone or in combination with mini-STRs.

  20. Locus of Control and Death Anxiety: A Reexamination.

    ERIC Educational Resources Information Center

    Sadowski, Cyril J.; And Others

    1979-01-01

    Examined the relationship between locus of control and death anxiety. The Reid-Ware Three Factor Locus of Control Scale and Templer Death Anxiety Scale were administered to college students aged 17 to 49. Death anxiety loaded significantly on the Fatalism dimension for males and on the Social System Control dimension for females. (Author/BWF)

  1. Metacognition: As a Predictor of One's Academic Locus of Control

    ERIC Educational Resources Information Center

    Arslan, Serhat; Akin, Ahmet

    2014-01-01

    The purpose of this study is to examine the effect of metacognition on one's academic locus of control. The study's sample group consists of 451 university students enrolled in various programs at Sakarya University, Turkey. In this study, the Metacognitive Awareness Inventory and the Academic Locus of Control Scale were used. The correlations and…

  2. Anxiety, locus of control and appraisal of air pollution

    SciTech Connect

    Navarro, P.L.; Simpson-Housley, P.; de Man, A.F.

    1987-06-01

    100 residents of Santiago de Chile took part in a study of the relationship among locus of control, trait-anxiety, and perception of air pollution. Concern over the problem of atmospheric pollution and number of antipollution measures taken was related to trait-anxiety. Locus of control was associated with variation in awareness of pollution hazard.

  3. The Locus of Control Construct in EEG Alpha Rhythm Feedback

    ERIC Educational Resources Information Center

    Johnson, Richard K.; Meyer, Robert G.

    1974-01-01

    The present study investigated locus of control, and performance in a biofeedback situation where the goal was to increase EEG alpha rhythm. Subjects with an internal locus of control were better able to use feedback to increase their alpha activity than external subjects. (Author)

  4. Acculturation and Health Locus of Control among Mexican American Adolescents.

    ERIC Educational Resources Information Center

    Guinn, Bobby

    1998-01-01

    Health locus of control was investigated across culture of origin (Mexicanism), mainstream culture (Americanism), and bicultural linguistic-acculturation domains among 424 Mexican-American adolescents. Belief in powerful others' external control was the strongest explanation of locus of control in the culture-of-origin domain; internal control was…

  5. Locus of Control in Underachieving and Achieving Gifted Students.

    ERIC Educational Resources Information Center

    McClelland, Robert; And Others

    1991-01-01

    This study, with 87 underachieving and 77 achieving gifted students in grades 6-9, found that general locus of control measures did not differentiate between the 2 groups, that both scored significantly higher on positive internal than on negative internal locus of control, and that there were no gender or grade effects. (Author/DB)

  6. Externality and Locus of Control in Obese Children.

    ERIC Educational Resources Information Center

    Isbitsky, Joyce Renee; White, Donna Romano

    1981-01-01

    Significant sex differences indicated that boys generally ate more than girls and held more internal locus of control expectancies. However, obese and normal-weighted children were not differentiated by their performance on either food-related measures nor by their locus of control expectancies. (Author/MP)

  7. The Cajal Body and Histone Locus Body

    PubMed Central

    Nizami, Zehra; Deryusheva, Svetlana; Gall, Joseph G.

    2010-01-01

    The Cajal body (CB) is a nuclear organelle present in all eukaryotes that have been carefully studied. It is identified by the signature protein coilin and by CB-specific RNAs (scaRNAs). CBs contain high concentrations of splicing small nuclear ribonucleoproteins (snRNPs) and other RNA processing factors, suggesting that they are sites for assembly and/or posttranscriptional modification of the splicing machinery of the nucleus. The histone locus body (HLB) contains factors required for processing histone pre-mRNAs. As its name implies, the HLB is associated with the genes that code for histones, suggesting that it may function to concentrate processing factors at their site of action. CBs and HLBs are present throughout the interphase of the cell cycle, but disappear during mitosis. The biogenesis of CBs shows the features of a self-organizing structure. PMID:20504965

  8. Patterns of polymorphism at the self-incompatibility locus in 1,083 Arabidopsis thaliana genomes.

    PubMed

    Tsuchimatsu, Takashi; Goubet, Pauline M; Gallina, Sophie; Holl, Anne-Catherine; Fobis-Loisy, Isabelle; Bergès, Hélène; Marande, William; Prat, Elisa; Meng, Dazhe; Long, Quan; Platzer, Alexander; Nordborg, Magnus; Vekemans, Xavier; Castric, Vincent

    2017-04-04

    Although the transition to selfing in the model plant Arabidopsis thaliana involved the loss of the self-incompatibility (SI) system, it clearly did not occur due to the fixation of a single inactivating mutation at the locus determining the specificities of SI (the S-locus). At least three groups of divergent haplotypes (haplogroups), corresponding to ancient functional S-alleles, have been maintained at this locus, and extensive functional studies have shown that all three carry distinct inactivating mutations. However, the historical process of loss of SI is not well understood, in particular its relation with the last glaciation. Here, we took advantage of recently published genomic re-sequencing data in 1,083 Arabidopsis thaliana accessions that we combined with BAC sequencing to obtain polymorphism information for the whole S-locus region at a species-wide scale. The accessions differed by several major rearrangements including large deletions and inter-haplogroup recombinations, forming a set of haplogroups that are widely distributed throughout the native range and largely overlap geographically. 'Relict' A. thaliana accessions that directly derive from glacial refugia are polymorphic at the S-locus, suggesting that the three haplogroups were already present when glacial refugia from the last Ice Age became isolated. Inter-haplogroup recombinant haplotypes were highly frequent, and detailed analysis of recombination breakpoints suggested multiple independent origins. These findings suggest that the complete loss of SI in A. thaliana involved independent self-compatible mutants that arose prior to the last Ice Age, and experienced further rearrangements during post-glacial colonization.

  9. Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations.

    PubMed

    Noguchi, Yoriko; Onishi, Akira; Nakamachi, Yuji; Hayashi, Nobuhide; Harahap, Nur Imma Fatimah; Rochmah, Mawaddah Ar; Shima, Ai; Yanagisawa, Shinichiro; Morisada, Naoya; Nakagawa, Taku; Iijima, Kazumoto; Kasagi, Shimpei; Saegusa, Jun; Kawano, Seiji; Shinohara, Masakazu; Tairaku, Shinya; Saito, Toshio; Kubo, Yuji; Saito, Kayoko; Nishio, Hisahide

    2016-05-01

    Most patients with spinal muscular atrophy lack the survival motor neuron 1 gene (SMN1) in the telomeric region of the spinal muscular atrophy locus on chromosome 5q13. On the other hand, the copy number of SMN2, a centromeric homolog of SMN1, is increased in many of these patients. This study aimed to clarify the mechanism underlying these structural variations. We determined the copy numbers of telomeric and centromeric genes in the spinal muscular atrophy locus of 86 patients and 22 control subjects using multiplex ligation-dependent probe amplification analysis. Then, we chose 74 patients lacking SMN1 exons 7 and 8, and compared their dataset with that of 22 control subjects retaining SMN1 exons 7 and 8. The SMN2 copy number was shown to vary widely and to correlate with the disease severity of the patients. Interestingly, telomeric NAIP and telomeric GTF2H2 showed similar tendencies. We also noted positive correlations among the copy number of SMN2 and the telomeric genes of the spinal muscular atrophy locus. However, the copy numbers of centromeric NAIP and centromeric GTF2H2 were stable among the patients, with both approximating a value of two. Our findings suggested that the telomeric region of the spinal muscular atrophy locus appears to be susceptible to structural variation, whereas the centromeric region is stable. Moreover, according to our results, new SMN2 copies may be generated in the telomeric region of the spinal muscular atrophy locus, supporting the SMN1-to-SMN2 gene conversion theory. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Perceived parenting style of fathers and adolescents' locus of control in a collectivist culture of Malaysia: the moderating role of fathers' education.

    PubMed

    Keshavarz, Somayeh; Baharudin, Rozumah; Mounts, Nina S

    2013-01-01

    The authors investigated the moderating role of father's education on the associations between perceived paternal parenting styles and locus of control among 382 Malaysian adolescents with an average age of 14.27. Data were collected by means of adolescents' self-report using standardized instruments (i.e., parental authority questionnaire and Nowicki-Strickland Internal-External Control Scale for Children). Results revealed that there were significant negative relationships between fathers' authoritative parenting style (r = -.243, p < .001) and authoritarian parenting style (r = -.130, p < .01) with adolescents' internal locus of control. Furthermore, the findings indicated that father's high level of education moderated the relationship between perceived paternal authoritarian parenting and locus of control (b = -0.147, p < .001). The findings underscore the need to include the role of parents' education when assessing the links between parenting styles and adolescents' locus of control.

  11. Effects of preferred retinal locus placement on text navigation and development of advantageous trained retinal locus.

    PubMed

    Watson, Gale R; Schuchard, Ronald A; De l'Aune, William R; Watkins, Erica

    2006-01-01

    Sixty readers were evaluated for visual function and text-navigation ability. The visual field and preferred retinal locus (PRL) were measured with a scanning laser ophthalmoscope (SLO). We found significant differences in text-navigation ability based on scotoma and PRL placement. Readers with a PRL to the left of or above a scotoma had significantly less text-navigation abilities. Readers with a PRL to the left of a scotoma tended to misread words with similar beginnings and omit the last word on a line. Readers with a PRL above a scotoma tended to skip a line or reread the same line twice. In a follow-up study, seven subjects with a nonadvantageous PRL quickly developed a trained retinal locus (TRL) during instruction with an SLO. Although the readers developed the TRL in about 15 minutes, they read slower with the TRL than the PRL. This TRL research provides promising pilot data.

  12. Identifying regulatory mechanisms underlying tumorigenesis using locus expression signature analysis.

    PubMed

    Lee, Eunjee; de Ridder, Jeroen; Kool, Jaap; Wessels, Lodewyk F A; Bussemaker, Harmen J

    2014-04-15

    Retroviral insertional mutagenesis is a powerful tool for identifying putative cancer genes in mice. To uncover the regulatory mechanisms by which common insertion loci affect downstream processes, we supplemented genotyping data with genome-wide mRNA expression profiling data for 97 tumors induced by retroviral insertional mutagenesis. We developed locus expression signature analysis, an algorithm to construct and interpret the differential gene expression signature associated with each common insertion locus. Comparing locus expression signatures to promoter affinity profiles allowed us to build a detailed map of transcription factors whose protein-level regulatory activity is modulated by a particular locus. We also predicted a large set of drugs that might mitigate the effect of the insertion on tumorigenesis. Taken together, our results demonstrate the potential of a locus-specific signature approach for identifying mammalian regulatory mechanisms in a cancer context.

  13. Locus of the intensity effect in simple reaction time tasks.

    PubMed

    Jaśkowski, Piotr; Kurczewska, Marta; Nowik, Agnieszka; van der Lubbe, Rob H J; Verleger, Rolf

    2007-11-01

    Evidence is still inconclusive regarding the locus of the stimulus intensity effect on information processing in reaction tasks. Miller, Ulrich, and Rinkenauer (1999) addressed this question by assessing the intensity effect on stimulus- and response-locked lateralized readiness potentials (LRPs) as indices of the sensory and motor parts of reaction time (RT). In the case of visual stimuli, they observed that application of brighter stimuli resulted in a shortening of RT and stimulus-locked LRP (S-LRP), but not of response-locked LRP (R-LRP). The results for auditory stimuli, however, were unclear. In spite of a clear RT reduction due to increased loudness, neither S-LRP nor R-LRP onset was affected. A reason for this failure might have been a relatively small range of intensity variation and the type of task. To check for this possibility, we performed three experiments in which broader ranges of stimulus intensities and simple, rather than choice, response tasks were used. Although the intensity effect on the R-LRP was negligible, S-LRP followed RT changes, irrespective of stimulus modality. These findings support the conclusion that stimulus intensity exerts its effect before the start of motoric processes. Finally, S-LRP and R-LRP findings are discussed within a broader information-processing perspective to check the validity of the claim that S-LRP and R-LRP can, indeed, be considered as pure estimates of the duration of sensory and motor processes.

  14. Allelic Variation within the Emv-15 Locus Defines Genomic Sequences Closely Linked to the agouti Locus on Mouse Chromosome 2

    PubMed Central

    Siracusa, Linda D.; Russell, Liane B.; Jenkins, Nancy A.; Copeland, Neal G.

    1987-01-01

    Gene(s) at the agouti locus act within the microenvironment of the hair follicle to switch pigment synthesis in the melanocyte between eumelanin (black or brown pigment) and phaeomelanin (yellow pigment). Many phenotypic variants of this locus have been described. The mechanism(s) of gene action causing such variation in coat-color phenotype is not known. The close linkage of an endogenous ecotropic murine leukemia provirus, Emv-15 , to the lethal yellow mutation of the agouti locus provides a means to molecularly access genes at or near the agouti locus. We have identified and used a unique mouse sequence flanking the Emv-15 provirus to define three alleles of the Emv-15 locus. We found a correlation between the presence of specific Emv-15 alleles and the origins of specific agouti locus mutations, confirming close linkage. However, we found some exceptions which suggest that the Emv-15 locus is closely linked to, but genetically separable from, the agouti locus. PMID:2822532

  15. The Relations of Locus of Control and Social Support to Life-Cycle Related Needs of Widows.

    ERIC Educational Resources Information Center

    Lowenstein, Ariela; Rosan, Aaron

    1995-01-01

    Widows of varying ages (n=246) in urban Israel were investigated to examine the effects of widowhood-related needs along the life cycle and variables hypothesized to be related to it. Findings support previous research regarding the role of locus of control as a support mobilizer. Discusses importance of personal as well as environmental resources…

  16. Cultural Meaning of Perceived Control: A Meta-Analysis of Locus of Control and Psychological Symptoms across 18 Cultural Regions

    ERIC Educational Resources Information Center

    Cheng, Cecilia; Cheung, Shu-fai; Chio, Jasmine Hin-man; Chan, Man-pui Sally

    2013-01-01

    Integrating more than 40 years of studies on locus of control (LOC), this meta-analysis investigated whether (a) the magnitude of the relationship between LOC and psychological symptoms differed among cultures with distinct individualist orientations and (b) depression and anxiety symptoms yielded different patterns of cultural findings with LOC.…

  17. Cultural Meaning of Perceived Control: A Meta-Analysis of Locus of Control and Psychological Symptoms across 18 Cultural Regions

    ERIC Educational Resources Information Center

    Cheng, Cecilia; Cheung, Shu-fai; Chio, Jasmine Hin-man; Chan, Man-pui Sally

    2013-01-01

    Integrating more than 40 years of studies on locus of control (LOC), this meta-analysis investigated whether (a) the magnitude of the relationship between LOC and psychological symptoms differed among cultures with distinct individualist orientations and (b) depression and anxiety symptoms yielded different patterns of cultural findings with LOC.…

  18. The Impact of Prenatal Parental Locus of Control on Children's Psychological Outcomes in Infancy and Early Childhood: A Prospective 5 Year Study

    PubMed Central

    Nowicki, Stephen; Iles-Caven, Yasmin; Gregory, Steven; Ellis, Genette; Golding, Jean

    2017-01-01

    Locus of control is one of the most widely studied concepts in the history of personality psychology. In spite of its popularity and its associations with numerous relevant outcomes, the ability of locus of control to predict future behaviors involving parenting effectiveness has been under researched. The few parent locus of control children's outcome studies are characterized by cross-sectional methodologies that focus on mothers. The present study uses a prospective methodology to compare data on mothers' and fathers' locus of control with their child's behavior outcomes from a large scale research project, the Avon Longitudinal Study of Parents and Children (ALSPAC). Based on Rotter's Social Learning Theory published in 1954 and past empirical research, it was predicted and found that parent internality was associated with more positive child outcomes than parent externality. More specifically, when both parents were internal, their children had more positive outcomes in sleeping, eating, and tantrum behavior as compared to any other parent locus of control combination. However external parents had a less restrictive attitude which appeared to have a more beneficial effect on picky eating. Results confirmed how important parent locus of control is in the lives of children. Based on the findings, researchers are urged to develop interventions to change advice to parents and promote more internal locus of control among parents. PMID:28446887

  19. The Impact of Prenatal Parental Locus of Control on Children's Psychological Outcomes in Infancy and Early Childhood: A Prospective 5 Year Study.

    PubMed

    Nowicki, Stephen; Iles-Caven, Yasmin; Gregory, Steven; Ellis, Genette; Golding, Jean

    2017-01-01

    Locus of control is one of the most widely studied concepts in the history of personality psychology. In spite of its popularity and its associations with numerous relevant outcomes, the ability of locus of control to predict future behaviors involving parenting effectiveness has been under researched. The few parent locus of control children's outcome studies are characterized by cross-sectional methodologies that focus on mothers. The present study uses a prospective methodology to compare data on mothers' and fathers' locus of control with their child's behavior outcomes from a large scale research project, the Avon Longitudinal Study of Parents and Children (ALSPAC). Based on Rotter's Social Learning Theory published in 1954 and past empirical research, it was predicted and found that parent internality was associated with more positive child outcomes than parent externality. More specifically, when both parents were internal, their children had more positive outcomes in sleeping, eating, and tantrum behavior as compared to any other parent locus of control combination. However external parents had a less restrictive attitude which appeared to have a more beneficial effect on picky eating. Results confirmed how important parent locus of control is in the lives of children. Based on the findings, researchers are urged to develop interventions to change advice to parents and promote more internal locus of control among parents.

  20. Low Cost Upper Atmosphere Sounder (LOCUS)

    NASA Astrophysics Data System (ADS)

    Gerber, Daniel; Swinyard, Bruce M.; Ellison, Brian N.; Aylward, Alan D.; Aruliah, Anasuya; Plane, John M. C.; Feng, Wuhu; Saunders, Christopher; Friend, Jonathan; Bird, Rachel; Linfield, Edmund H.; Davies, A. Giles; Parkes, Steve

    2014-05-01

    near future. We describe the current instrument configuration of LOCUS, and give a first preview of the expected science return such a mission would yield. The LOCUS instrument concept calls for four spectral bands, a first band at 4.7 THz to target atomic oxygen (O), a second band at 3.5 THz to target hydroxyl (OH), a third band at 1.1 THz to cover several diatomic species (NO, CO, O3, H2O) and finally a fourth band at 0.8 THz to retrieve pointing information from molecular oxygen (O2). LOCUS would be the first satellite instrument to measure atomic oxygen on a global scale with a precision that will allow the retrieval of the global O distribution. It would also be the first time that annual and diurnal changes in O are measured. This will be a significant step forward in understanding the chemistry and dynamics of the MLT. Current indications (derived from CRISTA measurement) lead us to believe that current models only give a poor representation of upper atmospheric O. The secondary target species can help us to address additional scientific questions related to both Climate (distribution of climate relevant gases, highly geared cooling of the MLT in response to Climate change, increased occurrence of Polar Mesospheric Clouds (PMC), etc) and Space Weather (precipitation of electrically charged particles and impact on NOx chemistry, fluctuations of solar Lyman-alpha flux through shown in the the distribution of photochemically active species, etc).

  1. The relationship between age-stereotypes and health locus of control across adult age-groups.

    PubMed

    Sargent-Cox, Kerry; Anstey, Kaarin J

    2015-01-01

    This study integrates healthy ageing and health psychology theories to explore the mechanisms underlying the relationship between health control expectancies and age-attitudes on the process of ageing well. Specifically, the aim of this study is to investigate the relationship between age-stereotypes and health locus of control. A population-based survey of 739 adults aged 20-97 years (mean = 57.3 years, SD = 13.66; 42% female) explored attitudes towards ageing and health attitudes. A path-analytical approach was used to investigate moderating effects of age and gender. Higher age-stereotype endorsement was associated with higher chance (β = 2.91, p < .001) and powerful other (β = 1.07, p = .012) health expectancies, after controlling for age, gender, education and self-rated health. Significant age and gender interactions were found to influence the relationship between age-stereotypes and internal health locus of control. Our findings suggest that the relationship between age-stereotypes and health locus of control dimensions must be considered within the context of age and gender. The findings point to the importance of targeting health promotion and interventions through addressing negative age-attitudes.

  2. The APOE locus advances disease progression in late onset familial Alzheimer`s disease but is not causative

    SciTech Connect

    Crawford, F.; Bennett, C.; Osborne, A.

    1994-09-01

    An association has been observed in several independent data sets between late onset Alzheimer`s disease (AD) and the APOE locus on chromosomes 19. We have examined the genotype in family history positive (FHP) and family history negative (FHN) cases and find a distortion of the APOE allele frequencies in accord with previous studies. However, when we examined the allele distribution of the at-risk siblings of the FHP group we found an excess of the {epsilon}4 allele which also differs significantly from historic controls but not from the affected siblings. The age distribution of the affected and unaffected siblings was similar, suggesting that the allelic frequency distortion in the unaffected siblings was not due to their being below the mean age of onset. Lod score linkage analysis, with age dependent onset and nonstringent specification of the genetic parameters, did not suggest linkage to the APOE locus. Furthermore, an analysis of variance of the age of disease-free survival suggested that APOE genotype contributes a small fraction of the total variance, indicating that the APOE locus is a poor predictor of disease-free survival time within late onset families. We suggest that the APOE locus enhances the rate of progression of the disease in otherwise predisposed individuals and that variation at this locus is not able in and of itself to cause this disease.

  3. AKT as locus of fragility in robust cancer system.

    PubMed

    Radisavljevic, Ziv

    2008-08-15

    Metastatic cancer is a complex positive feedback loop system. Such as system has a tendency to acquire extreme robustness. Signaling pathways controlling that robustness can fail completely if an essential element from the signaling is removed. That element is a locus of fragility. Targeting that locus represents the best way to target the cancer robustness. This prospect presents another locus of fragility in signaling complex system network, controlling the cell cycle progression through the PI3K/AKT/mTOR/RAN pathway and cell migration and angiogenesis through the VEGF/PI3K/AKT/NO/ICAM-1 pathway. The locus of fragility of these pathways is AKT, which is regulated by a balance of catalase/H2O2 or by AKT inhibitor. Tiny and trivial perturbations such as change in redox state in the cells by antioxidant enzyme catalase, scavenging H2O2 signaling molecule, regulates robust signaling molecule AKT, abolishing its phosporilation and inducing cascading failure of robust signaling pathways for cell growth, proliferation, migration, and angiogenesis. An anticancer effect of the antioxidant is achieved through the AKT locus, by abolishing signals from growth factors VEGF, HGF, HIF-1alpha and H2O2. Previously reported locus of fragility nitric oxide (NO) and locus AKT are close in the complex signaling interactome network, but they regulate distinct signaling modules. Simultaneously targeted loci represents new principles in cancer robustness chemotherapy by blocking cell proliferation, migration, angiogenesis and inducing rather slow then fast apoptosis leading to slow eradication of cancer.

  4. Pupil diameter tracks changes in control state predicted by the adaptive gain theory of locus coeruleus function

    PubMed Central

    Gilzenrat, Mark S.; Nieuwenhuis, Sander; Jepma, Marieke; Cohen, Jonathan D.

    2010-01-01

    An important dimension of cognitive control is the adaptive regulation of the balance between exploitation (pursuing known sources of reward) and exploration (seeking new ones) in response to changes in task utility. Recent studies have suggested that the locus coeruleus–norepinephrine system may play an important role in this function and that pupil diameter can be used to index locus coeruleus activity. On the basis of this, we reasoned that pupil diameter may correlate closely with control state and associated changes in behavior. Specifically, we predicted that increases in baseline pupil diameter would be associated with decreases in task utility and disengagement from the task (exploration), whereas reduced baseline diameter (but increases in task-evoked dilations) would be associated with task engagement (exploitation). Findings in three experiments were consistent with these predictions, suggesting that pupillometry may be useful as an index of both control state and, indirectly, locus coeruleus function. PMID:20498349

  5. Pupil diameter tracks changes in control state predicted by the adaptive gain theory of locus coeruleus function.

    PubMed

    Gilzenrat, Mark S; Nieuwenhuis, Sander; Jepma, Marieke; Cohen, Jonathan D

    2010-05-01

    An important dimension of cognitive control is the adaptive regulation of the balance between exploitation (pursuing known sources of reward) and exploration (seeking new ones) in response to changes in task utility. Recent studies have suggested that the locus coeruleus-norepinephrine system may play an important role in this function and that pupil diameter can be used to index locus coeruleus activity. On the basis of this, we reasoned that pupil diameter may correlate closely with control state and associated changes in behavior. Specifically, we predicted that increases in baseline pupil diameter would be associated with decreases in task utility and disengagement from the task (exploration), whereas reduced baseline diameter (but increases in task-evoked dilations) would be associated with task engagement (exploitation). Findings in three experiments were consistent with these predictions, suggesting that pupillometry may be useful as an index of both control state and, indirectly, locus coeruleus function.

  6. Analysis of microsatellite polymorphisms within the GLC1F locus in Japanese patients with normal tension glaucoma

    PubMed Central

    Murakami, Kaori; Ota, Masao; Shiota, Tomoko; Nomura, Naoko; Kashiwagi, Kenji; Mabuchi, Fumihiko; Iijima, Hiroyuki; Kawase, Kazuhide; Yamamoto, Tetsuya; Nakamura, Makoto; Negi, Akira; Sagara, Takeshi; Nishida, Teruo; Inatani, Masaru; Tanihara, Hidenobu; Aihara, Makoto; Araie, Makoto; Fukuchi, Takeo; Abe, Haruki; Higashide, Tomomi; Sugiyama, Kazuhisa; Kanamoto, Takashi; Kiuchi, Yoshiaki; Iwase, Aiko; Ohno, Shigeaki; Inoko, Hidetoshi; Mizuki, Nobuhisa

    2010-01-01

    Purpose To investigate whether the GLC1F locus is associated with normal tension glaucoma (NTG) in Japanese patients. Methods We recruited 242 unrelated Japanese subjects, including, 141 NTG patients and 101 healthy controls. The patients exhibiting a comparatively early onset were selected as they suggest that genetic factors may show stronger involvement. Genotyping and assessment of allelic diversity was performed on 11 highly polymorphic microsatellite markers in and around the GLC1F locus. Results Individuals carrying the 163 allele of D7S1277i had a statistically significant increased risk of NTG (p=0.0013, pc=0.016, OR=2.47, 95%CI=1.42–4.30). None of the other markers identified significant loci (pc>0.05) after Bonferroni’s correction. Conclusions These findings suggested that the genes in the GLC1F locus may be associated with the pathogenesis of NTG. PMID:20309402

  7. [Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus].

    PubMed

    Axer, H; Hüge, S; Wilhelm, C; Axer, M; Kunze, A; Reichenbach, J R; Freesmeyer, M; Kohlhase, J; Sauer, H; Bär, K-J

    2009-01-01

    We report a patient with early-onset autosomal dominant dementia. The CSF showed increased levels of tau protein and decreased amyloid beta (ratio 42:40) typical for Alzheimer's disease. Cerebral MRI revealed vascular lesions and white-matter changes around the posterior horns of the ventricles with only moderate atrophy of the brain. Susceptibility-weighted imaging detected multiple small hemorrhagic changes. Gene analysis revealed amyloid precursor protein (APP) locus duplication as the cause of hereditary Alzheimer's dementia. The co-occurrence of CSF changes typical for Alzheimer's disease and MRI findings of cerebral amyloid angiopathy is remarkable, as it is also described for APP locus duplication. In conjunction with a family history suggestive of hereditary dementia, such a constellation should lead to enhanced gene analysis.

  8. PECAM-Independent Thioglycollate Peritonitis Is Associated With a Locus on Murine Chromosome 2

    PubMed Central

    Seidman, Michael A.; Chew, Tina W.; Schenkel, Alan R.; Muller, William A.

    2009-01-01

    Background Previous studies have demonstrated that knockout or inhibition of Platelet/Endothelial Cell Adhesion Molecule (PECAM, CD31) in a number of murine strains results in impaired inflammatory responses, but that no such phenotype is seen in the C57BL/6 (B6) murine background. Methodology/Principal Findings We have undertaken a quantitative trait locus (QTL) mapping effort between FVB/n (FVB) and B6 mice deficient for PECAM to identify the gene or genes responsible for this unique feature of B6 mice. We have identified a locus on murine chromosome 2 at approximately 35.8 Mb that is strongly associated (LOD score = 9.0) with inflammatory responses in the absence of PECAM. Conclusions/Significance These data potentiate further study of the diapedesis machinery, as well as potential identification of new components of this machinery. As such, this study is an important step to better understanding the processes of inflammation. PMID:19180231

  9. Association of 4p14 TLR locus with antibodies to Helicobacter pylori

    PubMed Central

    Sung, Hyuna; Camargo, M Constanza; Yu, Kai; Weinstein, Stephanie J.; Morgan, Douglas R.; Albanes, Demetrius; Rabkin, Charles S

    2015-01-01

    A genome-wide association study among Europeans related polymorphisms of the TLR locus at 4p14 and the FCGR2A locus at 1q23.3 to Helicobacter pylori serologic status. We replicated associations of 4p14 but not 1q23.3 with anti-H. pylori antibodies in 1,402 Finnish males. Importantly, our analysis clarified that the phenotype affected by 4p14 is quantitative level of these antibodies rather than association with seropositivity per se. Additionally, we annotated variants at 4p14 as expression quantitative trait loci associated with TLR6/10 and FAM114A1. Our findings suggest that 4p14 polymorphisms are linked to host immune response to H. pylori infection but not to its acquisition. PMID:26312625

  10. AKT as locus of cancer multidrug resistance and fragility.

    PubMed

    Radisavljevic, Ziv

    2013-04-01

    Complexity and robustness of cancer hypoxic microenvironment are supported by the robust signaling networks of autocrine and paracrine elements creating powerful interactome for multidrug resistance. These elements generate a positive feedback loops responsible for the extreme robustness and multidrug resistance in solid cancer, leukemia, myeloma, and lymphoma. Phosphorylated AKT is a cancer multidrug resistance locus. Targeting that locus by oxidant/antioxidant balance modulation, positive feedback loops are converted into negative feedback loops, leading to disappearance of multidrug resistance. This is a new principle for targeting cancer multidrug resistance by the locus chemotherapy inducing a phenomenon of loops conversion. Copyright © 2012 Wiley Periodicals, Inc.

  11. Relation of organizational citizenship behavior and locus of control.

    PubMed

    Turnipseed, David L; Bacon, Calvin M

    2009-12-01

    The relation of organizational citizenship behavior and locus of control was assessed in a sample of 286 college students (52% men; M age = 24 yr.) who worked an average of 26 hr. per week. Measures were Spector's Work Locus of Control Scale and Podsakoff, et al.'s Organization Citizenship Behavior scale. Hierarchical multiple regressions indicated positive association of scores on work locus of control with scores on each of the four tested dimensions of organizational citizenship, as well as total organizational citizenship behavior.

  12. Autism, fever, epigenetics and the locus coeruleus.

    PubMed

    Mehler, Mark F; Purpura, Dominick P

    2009-03-01

    Some children with autism spectrum disorders (ASD) exhibit improved behaviors and enhanced communication during febrile episodes. We hypothesize that febrigenesis and the behavioral-state changes associated with fever in autism depend upon selective normalization of key components of a functionally impaired locus coeruleus-noradrenergic (LC-NA) system. We posit that autistic behaviors result from developmental dysregulation of LC-NA system specification and neural network deployment and modulation linked to the core behavioral features of autism. Fever transiently restores the modulatory functions of the LC-NA system and ameliorates autistic behaviors. Fever-induced reversibility of autism suggests preserved functional integrity of widespread neural networks subserving the LC-NA system and specifically the subsystems involved in mediating the cognitive and behavioral repertoires compromised in ASD. Alterations of complex gene-environmental interactions and associated epigenetic mechanisms during seminal developmental critical periods are viewed as instrumental in LC-NA dysregulation as emphasized by the timing and severity of prenatal maternal stressors on autism prevalence. Our hypothesis has implications for a rational approach to further interrogate the interdisciplinary etiology of ASD and for designing novel biological detection systems and therapeutic agents that target the LC-NA system's diverse network of pre- and postsynaptic receptors, intracellular signaling pathways and dynamic epigenetic remodeling processes involved in their regulation and functional plasticity.

  13. THE LOCUS COERULEUS AND CENTRAL CHEMOSENSITIVITY

    PubMed Central

    Gargaglioni, Luciane H.; Hartzler, Lynn K.; Putnam, Robert W.

    2010-01-01

    The locus coeruleus (LC) lies in the dorsal pons and supplies noradrenergic (NA) input to many regions of the brain, including respiratory control areas. The LC may provide tonic input for basal respiratory drive and is involved in central chemosensitivity since focal acidosis of the region stimulates ventilation and ablation reduces CO2-induced increased ventilation. The output of LC is modulated by both serotonergic and glutamatergic inputs. A large percentage of LC neurons are intrinsically activated by hypercapnia. This percentage and the magnitude of their response are highest in young neonates and decrease dramatically after postnatal day P10. The cellular bases for intrinsic chemosensitivity of LC neurons are comprised of multiple factors, primary among them being reduced extracellular and intracellular pH, which inhibit inwardly rectifying and voltage-gated K+ channels, and activate L-type Ca2+ channels. Activation of KCa channels in LC neurons may limit their ultimate response to hypercapnia. Finally, the LC mediates central chemosensitivity and contains pH-sensitive neurons in amphibians, suggesting that the LC has a long-standing phylogenetic role in respiratory control. PMID:20435170

  14. Sequence variation within the fragile X locus.

    PubMed

    Mathews, D J; Kashuk, C; Brightwell, G; Eichler, E E; Chakravarti, A

    2001-08-01

    The human genome provides a reference sequence, which is a template for resequencing studies that aim to discover and interpret the record of common ancestry that exists in extant genomes. To understand the nature and pattern of variation and linkage disequilibrium comprising this history, we present a study of approximately 31 kb spanning an approximately 70 kb region of FMR1, sequenced in a sample of 20 humans (worldwide sample) and four great apes (chimp, bonobo, and gorilla). Twenty-five polymorphic sites and two insertion/deletions, distributed in 11 unique haplotypes, were identified among humans. Africans are the only geographic group that do not share any haplotypes with other groups. Parsimony analysis reveals two main clades and suggests that the four major human geographic groups are distributed throughout the phylogenetic tree and within each major clade. An African sample appears to be most closely related to the common ancestor shared with the three other geographic groups. Nucleotide diversity, pi, for this sample is 2.63 +/- 6.28 x 10(-4). The mutation rate, mu is 6.48 x 10(-10) per base pair per year, giving an ancestral population size of approximately 6200 and a time to the most recent common ancestor of approximately 320,000 +/- 72,000 per base pair per year. Linkage disequilibrium (LD) at the FMR1 locus, evaluated by conventional LD analysis and by the length of segment shared between any two chromosomes, is extensive across the region.

  15. Conservation of the S10-spc-α Locus within Otherwise Highly Plastic Genomes Provides Phylogenetic Insight into the Genus Leptospira

    PubMed Central

    Zuerner, Richard L.; Ahmed, Niyaz; Bulach, Dieter M.; Quinteiro, Javier; Hartskeerl, Rudy A.

    2008-01-01

    S10-spc-α is a 17.5 kb cluster of 32 genes encoding ribosomal proteins. This locus has an unusual composition and organization in Leptospira interrogans. We demonstrate the highly conserved nature of this region among diverse Leptospira and show its utility as a phylogenetically informative region. Comparative analyses were performed by PCR using primer sets covering the whole locus. Correctly sized fragments were obtained by PCR from all L. interrogans strains tested for each primer set indicating that this locus is well conserved in this species. Few differences were detected in amplification profiles between different pathogenic species, indicating that the S10-spc-α locus is conserved among pathogenic Leptospira. In contrast, PCR analysis of this locus using DNA from saprophytic Leptospira species and species with an intermediate pathogenic capacity generated varied results. Sequence alignment of the S10-spc-α locus from two pathogenic species, L. interrogans and L. borgpetersenii, with the corresponding locus from the saprophyte L. biflexa serovar Patoc showed that genetic organization of this locus is well conserved within Leptospira. Multilocus sequence typing (MLST) of four conserved regions resulted in the construction of well-defined phylogenetic trees that help resolve questions about the interrelationships of pathogenic Leptospira. Based on the results of secY sequence analysis, we found that reliable species identification of pathogenic Leptospira is possible by comparative analysis of a 245 bp region commonly used as a target for diagnostic PCR for leptospirosis. Comparative analysis of Leptospira strains revealed that strain H6 previously classified as L. inadai actually belongs to the pathogenic species L. interrogans and that L. meyeri strain ICF phylogenetically co-localized with the pathogenic clusters. These findings demonstrate that the S10-spc-α locus is highly conserved throughout the genus and may be more useful in comparing evolution of

  16. Conservation of the S10-spc-alpha locus within otherwise highly plastic genomes provides phylogenetic insight into the genus Leptospira.

    PubMed

    Victoria, Berta; Ahmed, Ahmed; Zuerner, Richard L; Ahmed, Niyaz; Bulach, Dieter M; Quinteiro, Javier; Hartskeerl, Rudy A

    2008-07-16

    S10-spc-alpha is a 17.5 kb cluster of 32 genes encoding ribosomal proteins. This locus has an unusual composition and organization in Leptospira interrogans. We demonstrate the highly conserved nature of this region among diverse Leptospira and show its utility as a phylogenetically informative region. Comparative analyses were performed by PCR using primer sets covering the whole locus. Correctly sized fragments were obtained by PCR from all L. interrogans strains tested for each primer set indicating that this locus is well conserved in this species. Few differences were detected in amplification profiles between different pathogenic species, indicating that the S10-spc-alpha locus is conserved among pathogenic Leptospira. In contrast, PCR analysis of this locus using DNA from saprophytic Leptospira species and species with an intermediate pathogenic capacity generated varied results. Sequence alignment of the S10-spc-alpha locus from two pathogenic species, L. interrogans and L. borgpetersenii, with the corresponding locus from the saprophyte L. biflexa serovar Patoc showed that genetic organization of this locus is well conserved within Leptospira. Multilocus sequence typing (MLST) of four conserved regions resulted in the construction of well-defined phylogenetic trees that help resolve questions about the interrelationships of pathogenic Leptospira. Based on the results of secY sequence analysis, we found that reliable species identification of pathogenic Leptospira is possible by comparative analysis of a 245 bp region commonly used as a target for diagnostic PCR for leptospirosis. Comparative analysis of Leptospira strains revealed that strain H6 previously classified as L. inadai actually belongs to the pathogenic species L. interrogans and that L. meyeri strain ICF phylogenetically co-localized with the pathogenic clusters. These findings demonstrate that the S10-spc-alpha locus is highly conserved throughout the genus and may be more useful in comparing

  17. Mutations Affecting Expression of the rosy Locus in Drosophila melanogaster

    PubMed Central

    Lee, Chong Sung; Curtis, Daniel; McCarron, Margaret; Love, Carol; Gray, Mark; Bender, Welcome; Chovnick, Arthur

    1987-01-01

    The rosy locus in Drosophila melanogaster codes for the enzyme xanthine dehydrogenase (XDH). Previous studies defined a "control element" near the 5' end of the gene, where variant sites affected the amount of rosy mRNA and protein produced. We have determined the DNA sequence of this region from both genomic and cDNA clones, and from the ry+10 underproducer strain. This variant strain had many sequence differences, so that the site of the regulatory change could not be fixed. A mutagenesis was also undertaken to isolate new regulatory mutations. We induced 376 new mutations with 1-ethyl-1-nitrosourea (ENU) and screened them to isolate those that reduced the amount of XDH protein produced, but did not change the properties of the enzyme. Genetic mapping was used to find mutations located near the 5' end of the gene. DNA from each of seven mutants was cloned and sequenced through the 5' region. Mutant base changes were identified in all seven; they appear to affect splicing and translation of the rosy mRNA. In a related study (T. P. Keith et al. 1987), the genomic and cDNA sequences are extended through the 3' end of the gene; the combined sequences define the processing pattern of the rosy transcript and predict the amino acid sequence of XDH. PMID:3036645

  18. Pupil diameter covaries with BOLD activity in human locus coeruleus.

    PubMed

    Murphy, Peter R; O'Connell, Redmond G; O'Sullivan, Michael; Robertson, Ian H; Balsters, Joshua H

    2014-08-01

    The locus coeruleus-noradrenergic (LC-NA) neuromodulatory system has been implicated in a broad array of cognitive processes, yet scope for investigating this system's function in humans is currently limited by an absence of reliable non-invasive measures of LC activity. Although pupil diameter has been employed as a proxy measure of LC activity in numerous studies, empirical evidence for a relationship between the two is lacking. In the present study, we sought to rigorously probe the relationship between pupil diameter and BOLD activity localized to the human LC. Simultaneous pupillometry and fMRI revealed a relationship between continuous pupil diameter and BOLD activity in a dorsal pontine cluster overlapping with the LC, as localized via neuromelanin-sensitive structural imaging and an LC atlas. This relationship was present both at rest and during performance of a two-stimulus oddball task, with and without spatial smoothing of the fMRI data, and survived retrospective image correction for physiological noise. Furthermore, the spatial extent of this pupil/LC relationship guided a volume-of-interest analysis in which we provide the first demonstration in humans of a fundamental characteristic of animal LC activity: phasic modulation by oddball stimulus relevance. Taken together, these findings highlight the potential for utilizing pupil diameter to achieve a more comprehensive understanding of the role of the LC-NA system in human cognition.

  19. Polarized gene conversion at the bz locus of maize.

    PubMed

    Dooner, Hugo K; He, Limei

    2014-09-23

    Nucleotide diversity is greater in maize than in most organisms studied to date, so allelic pairs in a hybrid tend to be highly polymorphic. Most recombination events between such pairs of maize polymorphic alleles are crossovers. However, intragenic recombination events not associated with flanking marker exchange, corresponding to noncrossover gene conversions, predominate between alleles derived from the same progenitor. In these dimorphic heterozygotes, the two alleles differ only at the two mutant sites between which recombination is being measured. To investigate whether gene conversion at the bz locus is polarized, two large diallel crossing matrices involving mutant sites spread across the bz gene were performed and more than 2,500 intragenic recombinants were scored. In both diallels, around 90% of recombinants could be accounted for by gene conversion. Furthermore, conversion exhibited a striking polarity, with sites located within 150 bp of the start and stop codons converting more frequently than sites located in the middle of the gene. The implications of these findings are discussed with reference to recent data from genome-wide studies in other plants.

  20. Comparative genomic analysis of the compound Brassica napus Rf locus.

    PubMed

    Gaborieau, Lydiane; Brown, Gregory G

    2016-10-26

    The plant trait of cytoplasmically-inherited male sterility (CMS) and its suppression by nuclear restorer-of-fertility (Rf) genes can be viewed as a genetic arms race between the mitochondrial and nuclear genomes. Most nuclear Rf genes have been shown to encode P-type pentatricopeptide repeat proteins (PPRs). Phylogenetic analysis of P-class PPRs from sequenced plants genomes has shown that Rf-proteins cluster in a distinct clade of P-class PPRs, RFL-PPRs, that display hallmarks of positive evolutionary selection. Genes encoding RFL-PPRs (RFLs) within a given plant genome tend to be closely related both in sequence and position, but a detailed understanding of how such species-specific expansion occurs is lacking. In the canola, (oilseed rape) species Brassica napus, previous work has indicated the nuclear restorer genes for the two native forms of CMS, Rfn (for nap CMS) and Rfp (pol CMS), represent alternate haplotypes, or alleles, of a single nuclear locus. Fine genetic mapping indicates that Rfn does indeed localize to the same genomic region as Rfp. We find this region is enriched in RFL genes, three of which, based on their position and expression, represent potential candidates for Rfn; one of these genes, designated PPR4, is a preferred candidate in that it is not expressed in the nap CMS line. Comparison of the corresponding regions of the genomes of B. rapa, B. oleracea, Arabidopsis thaliana and A. lyrata provides insight into the expansion of this group of RFL genes in different lines of evolutionary descent. Unlike other nuclear restorer loci containing multiple RFL genes, the RFL genes in the Rf region of B. napus are not present in tandem arrays but rather are dispersed in genomic location. The genes do not share similar flanking non-coding regions and do not contain introns, indicating that they have duplicated primarily through a retrotransposition-mediated process. In contrast, segmental duplication has been responsible for the distribution of the

  1. The Role of Health Locus of Control in Predicting Depression Symptoms in a Sample of Iranian Older Adults with Chronic Diseases.

    PubMed

    Aflakseir, Abdul-Aziz; Mohammad-Abadi, Mohammad-Saleh

    2016-04-01

    The purpose of this study was to examine the prediction of depression on a group of Iranian older adults based on components of health locus of control. Sixty-six men and 42 women over the age of 55 were recruited from the retirement clubs in Shiraz, using convenience sampling. The participants completed the research questionnaires including the Geriatric Depression Scale (GDS) and the Multidimensional Health Locus of Control Scale (MHLC). The findings on health locus of control revealed that the highest score was on internal locus of control followed by God, powerful others and chance. The mean score on depression was on a normal range. Multiple regression analysis showed that two independent variables including internal control (ß = -.32, p < 0.01) and God control (ß = -.20, = p < 0.03) significantly predicted depression. The other components of health locus of control such as chance and powerful others as well as age did not predict depression. Findings also revealed that the independents variables explained 26% of the total variance of depression (R2 = .26, p <0.001). his study provides more support for the application of theory of health locus of control on depression.

  2. Telomerase Reverse Transcriptase Locus Polymorphisms and Cancer Risk: A Field Synopsis and Meta-Analysis

    PubMed Central

    Verdi, Daunia; Pooley, Karen A.; Landi, Maria T.; Egan, Kathleen M.; Baird, Duncan M.; Prescott, Jennifer; De Vivo, Immaculata; Nitti, Donato

    2012-01-01

    polymorphisms (TERT rs2736100, intergenic rs4635969, and CLPTM1L rs402710) was 41%. Strong evidence for lack of association was identified for five polymorphisms in three tumor types. Conclusions To our knowledge, this is the largest collection of data for associations between TERT locus polymorphisms and cancer risk. Our findings support the hypothesis that genetic variability in this genomic region can modulate cancer susceptibility in humans. PMID:22523397

  3. Multidimensional profiles of health locus of control in Hispanic Americans

    PubMed Central

    Champagne, Brian R; Fox, Rina S; Mills, Sarah D; Sadler, Georgia Robins; Malcarne, Vanessa L

    2016-01-01

    Latent profile analysis identified health locus of control profiles among 436 Hispanic Americans who completed the Multidimensional Health Locus of Control scales. Results revealed four profiles: Internally Oriented-Weak, -Moderate, -Strong, and Externally Oriented. The profile groups were compared on sociocultural and demographic characteristics, health beliefs and behaviors, and physical and mental health outcomes. The Internally Oriented-Strong group had less cancer fatalism, religiosity, and equity health attributions, and more alcohol consumption than the other three groups; the Externally Oriented group had stronger equity health attributions and less alcohol consumption. Deriving multidimensional health locus of control profiles through latent profile analysis allows examination of the relationships of health locus of control subtypes to health variables. PMID:25855212

  4. Multidimensional profiles of health locus of control in Hispanic Americans.

    PubMed

    Champagne, Brian R; Fox, Rina S; Mills, Sarah D; Sadler, Georgia Robins; Malcarne, Vanessa L

    2016-10-01

    Latent profile analysis identified health locus of control profiles among 436 Hispanic Americans who completed the Multidimensional Health Locus of Control scales. Results revealed four profiles: Internally Oriented-Weak, -Moderate, -Strong, and Externally Oriented. The profile groups were compared on sociocultural and demographic characteristics, health beliefs and behaviors, and physical and mental health outcomes. The Internally Oriented-Strong group had less cancer fatalism, religiosity, and equity health attributions, and more alcohol consumption than the other three groups; the Externally Oriented group had stronger equity health attributions and less alcohol consumption. Deriving multidimensional health locus of control profiles through latent profile analysis allows examination of the relationships of health locus of control subtypes to health variables. © The Author(s) 2015.

  5. Healthy elderly: social bonds and locus of control.

    PubMed

    Thomas, P D; Hooper, E M

    1983-03-01

    An investigation into social relationships and their connection to health was integrated into a 5-year prospective study of nutrition and immunobiology in 300 healthy elderly persons. The data were collected from a subsample of 40 individuals by interview, using the Interview Schedule for Social Interaction (ISSI), the Rotter I-E Locus of Control Scale, and the Multidimensional Health Locus of Control Scale (MHLC). This group did not differ from the general population in terms of their social relationships. The mean locus of control expectancy score was 6.5 +/- 3.3, indicating an internal group. There was a statistically significant relationship between internality and availability of social integration, but no differences based upon sex or age for the ISSI or Rotter's I-E Locus of Control Scale.

  6. Independence of Foveal Retinal Locus and Visual Detection Paradigm.

    DTIC Science & Technology

    1980-02-09

    F O-AO.. 17 ILLINOIS UNIV AT URBANA-CHAMPAIGN HUMAN ATTENTION RES -ETC F/A 5/10 INDEPENDENCE OF FOVEAL RETINAL LOCUS AND VISUAL DETECTION PARAD -ETC...variably mapped, and frame time of 100 or 200 msec for the consistent or variably mapped conditions, respectively. The main effects of experimental paradigm...Foveal Retinal Locus and Visual Detection Paradigm Walter Schneider and Arthur D. Fisk Report 8001 Human Attention Research Laboratory University of

  7. [Health locus of control of patients in disease management programmes].

    PubMed

    Schnee, M; Grikscheit, F

    2013-06-01

    Health locus of control beliefs plays a major role in improving self-management skills of the chronically ill - a main goal in disease management programmes (DMP). This study aims at characterising participants in disease management regarding their health locus of control. Data are based on 4 cross-sectional postal surveys between spring and autumn of 2006 and 2007 within the Health Care Monitor of the Bertelsmann Foundation. Among the 6 285 respondents, 1 266 are chronically ill and not enrolled in a DMP and 327 are participating in a DMP. A high internal locus of control (HLC) occurs significantly less often in DMP patients than in normal chronically ill patients (and healthy people) controlling for age, gender and social class. With increasing age, a high internal locus of control is also significantly less likely. When comparing healthy people, the chronically ill and the DMP participants a social gradient of a high internal locus of control belief can be observed. The weaker internal and higher doctor-related external locus of control of DMP participants should be carefully observed by the physician when trying to strengthen the patients' self-management skills. Evaluators of DMP should take into account the different baselines of DMP patients and relevant control groups and incorporate these differences into the evaluation. © Georg Thieme Verlag KG Stuttgart · New York.

  8. Strategies for conditional two-locus nonparametric linkage analysis.

    PubMed

    Angquist, Lars; Hössjer, Ola; Groop, Leif

    2008-01-01

    In this article we deal with two-locus nonparametric linkage (NPL) analysis, mainly in the context of conditional analysis. This means that one incorporates single-locus analysis information through conditioning when performing a two-locus analysis. Here we describe different strategies for using this approach. Cox et al. [Nat Genet 1999;21:213-215] implemented this as follows: (i) Calculate the one-locus NPL process over the included genome region(s). (ii) Weight the individual pedigree NPL scores using a weighting function depending on the NPL scores for the corresponding pedigrees at speci fi c conditioning loci. We generalize this by conditioning with respect to the inheritance vector rather than the NPL score and by separating between the case of known (prede fi ned) and unknown (estimated) conditioning loci. In the latter case we choose conditioning locus, or loci, according to prede fi ned criteria. The most general approach results in a random number of selected loci, depending on the results from the previous one-locus analysis. Major topics in this article include discussions on optimal score functions with respect to the noncentrality parameter (NCP), and how to calculate adequate p values and perform power calculations. We also discuss issues related to multiple tests which arise from the two-step procedure with several conditioning loci as well as from the genome-wide tests.

  9. Fixation probability in a two-locus intersexual selection model.

    PubMed

    Durand, Guillermo; Lessard, Sabin

    2016-06-01

    We study a two-locus model of intersexual selection in a finite haploid population reproducing according to a discrete-time Moran model with a trait locus expressed in males and a preference locus expressed in females. We show that the probability of ultimate fixation of a single mutant allele for a male ornament introduced at random at the trait locus given any initial frequency state at the preference locus is increased by weak intersexual selection and recombination, weak or strong. Moreover, this probability exceeds the initial frequency of the mutant allele even in the case of a costly male ornament if intersexual selection is not too weak. On the other hand, the probability of ultimate fixation of a single mutant allele for a female preference towards a male ornament introduced at random at the preference locus is increased by weak intersexual selection and weak recombination if the female preference is not costly, and is strong enough in the case of a costly male ornament. The analysis relies on an extension of the ancestral recombination-selection graph for samples of haplotypes to take into account events of intersexual selection, while the symbolic calculation of the fixation probabilities is made possible in a reasonable time by an optimizing algorithm.

  10. Two-locus linkage analysis in multiple sclerosis (MS)

    SciTech Connect

    Tienari, P.J. Univ. of Helsinki ); Terwilliger, J.D.; Ott, J. ); Palo, J. ); Peltonen, L. )

    1994-01-15

    One of the major challenges in genetic linkage analyses is the study of complex diseases. The authors demonstrate here the use of two-locus linkage analysis in multiple sclerosis (MS), a multifactorial disease with a complex mode of inheritance. In a set of Finnish multiplex families, they have previously found evidence for linkage between MS susceptibility and two independent loci, the myelin basic protein gene (MBP) on chromosome 18 and the HLA complex on chromosome 6. This set of families provides a unique opportunity to perform linkage analysis conditional on two loci contributing to the disease. In the two-trait-locus/two-marker-locus analysis, the presence of another disease locus is parametrized and the analysis more appropriately treats information from the unaffected family member than single-disease-locus analysis. As exemplified here in MS, the two-locus analysis can be a powerful method for investigating susceptibility loci in complex traits, best suited for analysis of specific candidate genes, or for situations in which preliminary evidence for linkage already exists or is suggested. 41 refs., 6 tabs.

  11. DNA Modification Study of Major Depressive Disorder: Beyond Locus-by-Locus Comparisons

    PubMed Central

    Oh, Gabriel; Wang, Sun-Chong; Pal, Mrinal; Chen, Zheng Fei; Khare, Tarang; Tochigi, Mamoru; Ng, Catherine; Yang, Yeqing A.; Kwan, Andrew; Kaminsky, Zachary A.; Mill, Jonathan; Gunasinghe, Cerisse; Tackett, Jennifer L.; Gottesman, Irving I.; Willemsen, Gonneke; de Geus, Eco J.C.; Vink, Jacqueline M.; Slagboom, P. Eline; Wray, Naomi R.; Heath, Andrew C.; Montgomery, Grant W.; Turecki, Gustavo; Martin, Nicholas G.; Boomsma, Dorret I.; McGuffin, Peter; Kustra, Rafal; Petronis, Art

    2014-01-01

    Background Major depressive disorder (MDD) exhibits numerous clinical and molecular features that are consistent with putative epigenetic misregulation. Despite growing interest in epigenetic studies of psychiatric diseases, the methodologies guiding such studies have not been well defined. Methods We performed DNA modification analysis in white blood cells from monozygotic twins discordant for MDD, in brain prefrontal cortex, and germline (sperm) samples from affected individuals and control subjects (total N = 304) using 8.1K CpG island microarrays and fine mapping. In addition to the traditional locus-by-locus comparisons, we explored the potential of new analytical approaches in epigenomic studies. Results In the microarray experiment, we detected a number of nominally significant DNA modification differences in MDD and validated selected targets using bisulfite pyrosequencing. Some MDD epigenetic changes, however, overlapped across brain, blood, and sperm more often than expected by chance. We also demonstrated that stratification for disease severity and age may increase the statistical power of epimutation detection. Finally, a series of new analytical approaches, such as DNA modification networks and machine-learning algorithms using binary and quantitative depression phenotypes, provided additional insights on the epigenetic contributions to MDD. Conclusions Mapping epigenetic differences in MDD (and other psychiatric diseases) is a complex task. However, combining traditional and innovative analytical strategies may lead to identification of disease-specific etiopathogenic epimutations. PMID:25108803

  12. Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease.

    PubMed

    Khor, Chiea Chuen; Davila, Sonia; Breunis, Willemijn B; Lee, Yi-Ching; Shimizu, Chisato; Wright, Victoria J; Yeung, Rae S M; Tan, Dennis E K; Sim, Kar Seng; Wang, Jie Jin; Wong, Tien Yin; Pang, Junxiong; Mitchell, Paul; Cimaz, Rolando; Dahdah, Nagib; Cheung, Yiu-Fai; Huang, Guo-Ying; Yang, Wanling; Park, In-Sook; Lee, Jong-Keuk; Wu, Jer-Yuarn; Levin, Michael; Burns, Jane C; Burgner, David; Kuijpers, Taco W; Hibberd, Martin L

    2011-11-13

    Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from five independent sample collections. Two loci exceeded the formal threshold for genome-wide significance. The first locus is a functional polymorphism in the IgG receptor gene FCGR2A (encoding an H131R substitution) (rs1801274; P = 7.35 × 10(-11), odds ratio (OR) = 1.32), with the A allele (coding for histadine) conferring elevated disease risk. The second locus is at 19q13, (P = 2.51 × 10(-9), OR = 1.42 for the rs2233152 SNP near MIA and RAB4B; P = 1.68 × 10(-12), OR = 1.52 for rs28493229 in ITPKC), which confirms previous findings(1). The involvement of the FCGR2A locus may have implications for understanding immune activation in Kawasaki disease pathogenesis and the mechanism of response to intravenous immunoglobulin, the only proven therapy for this disease.

  13. Molecular and Recombinational Mapping of Mutations in the Ace Locus of Drosophila melanogaster

    PubMed Central

    Nagoshi, Rodney N.; Gelbart, William M.

    1987-01-01

    The Ace locus in Drosophila melanogaster is known to be the structural gene for acetylcholinesterase. Ace is located in a region of chromosome arm 3R which has been subjected to intensive genetic and molecular analysis. Previous deletion mapping studies have identified a 40-kb region within which the Ace gene resides. This report focuses on the further localization of Ace within this 40-kb interval. Within this region, selective fine structure recombinational analysis was employed to localize three recessive Ace lethals relative to unselected restriction site variations. These three mutations fall into a segment of 7 kb within the Ace interval. Fine structure recombinational analysis was also used to confirm that the Ace- phenotype of one deletion, Df(3R)AceHD1, co-segregated with the molecular deletion. This deletion does not fully remove Ace activity, but it behaves as a recessive Ace lethal. Df(3R)AceHD1 is the most distal Ace lesion identified and indicates that the Ace locus must extend at least 16 kb. Several poly(A)transcripts are detectable in the region defined by the Ace lesions. The position and extent of the Ace locus, as well as the types of transcripts found, is consistent with the recent findings which identified Torpedo-AChE homologous cDNA sequences in this region. PMID:2826288

  14. A putative regulatory genetic locus modulates virulence in the pathogen Leptospira interrogans.

    PubMed

    Eshghi, Azad; Becam, Jérôme; Lambert, Ambroise; Sismeiro, Odile; Dillies, Marie-Agnès; Jagla, Bernd; Wunder, Elsio A; Ko, Albert I; Coppee, Jean-Yves; Goarant, Cyrille; Picardeau, Mathieu

    2014-06-01

    Limited research has been conducted on the role of transcriptional regulators in relation to virulence in Leptospira interrogans, the etiological agent of leptospirosis. Here, we identify an L. interrogans locus that encodes a sensor protein, an anti-sigma factor antagonist, and two genes encoding proteins of unknown function. Transposon insertion into the gene encoding the sensor protein led to dampened transcription of the other 3 genes in this locus. This lb139 insertion mutant (the lb139(-) mutant) displayed attenuated virulence in the hamster model of infection and reduced motility in vitro. Whole-transcriptome analyses using RNA sequencing revealed the downregulation of 115 genes and the upregulation of 28 genes, with an overrepresentation of gene products functioning in motility and signal transduction and numerous gene products with unknown functions, predicted to be localized to the extracellular space. Another significant finding encompassed suppressed expression of the majority of the genes previously demonstrated to be upregulated at physiological osmolarity, including the sphingomyelinase C precursor Sph2 and LigB. We provide insight into a possible requirement for transcriptional regulation as it relates to leptospiral virulence and suggest various biological processes that are affected due to the loss of native expression of this genetic locus.

  15. A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

    PubMed

    Calpena, E; Martínez-Rubio, D; Arpa, J; García-Peñas, J J; Montaner, D; Dopazo, J; Palau, F; Espinós, C

    2014-08-01

    Hereditary recurrent neuropathies are uncommon. Disorders with a known molecular basis falling within this group include hereditary neuropathy with liability to pressure palsies (HNPP) due to the deletion of the PMP22 gene or to mutations in this same gene, and hereditary neuralgic amyotrophy (HNA) caused by mutations in the SEPT9 gene. We report a three-generation family presenting a hereditary recurrent neuropathy without pathological changes in either PMP22 or SEPT9 genes. We performed a genome-wide mapping, which yielded a locus of 12.4 Mb on chromosome 21q21. The constructed haplotype fully segregated with the disease and we found significant evidence of linkage. After mutational screening of genes located within this locus, encoding for proteins and microRNAs, as well as analysis of large deletions/insertions, we identified 71 benign polymorphisms. Our findings suggest a novel genetic locus for a recurrent hereditary neuropathy of which the molecular defect remains elusive. Our results further underscore the clinical and genetic heterogeneity of this group of neuropathies. Copyright © 2014 Elsevier B.V. All rights reserved.

  16. Molecular and recombinational mapping of mutations in the Ace locus of Drosophila melanogaster

    SciTech Connect

    Nagoshi, R.N.; Gelbart, W.M.

    1987-11-01

    The Ace locus in Drosophila melanogaster is known to be the structural gene for acetylcholinesterase. Ace is located in a region of chromosome arm 3R which has been subjected to intensive genetic and molecular analysis. Previous deletion mapping studies have identified a 40-kb region with which the Ace gene resides. This report focuses on the further localization of Ace within this 40-kb interval. Within this region, selective fine structure recombinational analysis was employed to localize three recessive Ace lethals relative to unselected restriction site variations. These three mutations fall into a segment of 7 kb within the Ace interval. Fine structure recombinational analysis was also used to confirm that the Ace/sup -/ phenotype of one deletion, Df(3R)Ace/sup HD1/, co-segregated with the molecular deletion. This deletion does not fully remove Ace activity, but it behaves as a recessive Ace lethal. Df(3R)Ace/sup HD1/ is the most distal Ace lesion identified and indicates that the Ace locus must extend at least 16 kb. Several poly(A)transcripts are detectable in the region defined by the Ace lesions. The position and extent of the Ace locus, as well as the types of transcripts found, is consistent with the recent findings which identified Torpedo-AChE homologous cDNA sequences in this region.

  17. Transcription factor ICBP90 regulates the MIF promoter and immune susceptibility locus.

    PubMed

    Yao, Jie; Leng, Lin; Sauler, Maor; Fu, Weiling; Zheng, Junsong; Zhang, Yi; Du, Xin; Yu, Xiaoqing; Lee, Patty; Bucala, Richard

    2016-02-01

    The immunoregulatory cytokine macrophage migration inhibitory factor (MIF) is encoded in a functionally polymorphic locus that is linked to the susceptibility of autoimmune and infectious diseases. The MIF promoter contains a 4-nucleotide microsatellite polymorphism (-794 CATT) that repeats 5 to 8 times in the locus, with greater numbers of repeats associated with higher mRNA levels. Because there is no information about the transcriptional regulation of these common alleles, we used oligonucleotide affinity chromatography and liquid chromatography-mass spectrometry to identify nuclear proteins that interact with the -794 CATT5-8 site. An analysis of monocyte nuclear lysates revealed that the transcription factor ICBP90 (also known as UHRF1) is the major protein interacting with the MIF microsatellite. We found that ICBP90 is essential for MIF transcription from monocytes/macrophages, B and T lymphocytes, and synovial fibroblasts, and TLR-induced MIF transcription is regulated in an ICBP90- and -794 CATT5-8 length-dependent manner. Whole-genome transcription analysis of ICBP90 shRNA-treated rheumatoid synoviocytes uncovered a subset of proinflammatory and immune response genes that overlapped with those regulated by MIF shRNA. In addition, the expression levels of ICBP90 and MIF were correlated in joint synovia from patients with rheumatoid arthritis. These findings identify ICBP90 as a key regulator of MIF transcription and provide functional insight into the regulation of the polymorphic MIF locus.

  18. Locus- and cell type-specific epigenetic switching during cellular differentiation in mammals

    PubMed Central

    Zhao, Ying-Tao; Fasolino, Maria; Zhou, Zhaolan

    2016-01-01

    BACKGROUND Epigenomic reconfiguration, including changes in DNA methylation and histone modifications, is crucial for the differentiation of embryonic stem cells (ESCs) into somatic cells. However, the extent to which the epigenome is reconfigured and the interplay between components of the epigenome during cellular differentiation remain poorly defined. METHODS We systematically analyzed and compared DNA methylation, various histone modification, and transcriptome profiles in ESCs with those of two distinct types of somatic cells from human and mouse. RESULTS We found that global DNA methylation levels are lower in somatic cells compared to ESCs in both species. We also found that 80% of regions with histone modification occupancy differ between human ESCs and the two human somatic cell types. Approximately 70% of the reconfigurations in DNA methylation and histone modifications are locus- and cell type-specific. Intriguingly, the loss of DNA methylation is accompanied by the gain of different histone modifications in a locus- and cell type-specific manner. Further examination of transcriptional changes associated with epigenetic reconfiguration at promoter regions revealed an epigenetic switching for gene regulation—a transition from stable gene silencing mediated by DNA methylation in ESCs to flexible gene repression facilitated by repressive histone modifications in somatic cells. CONCLUSIONS Our findings demonstrate that the epigenome is reconfigured in a locus- and cell type-specific manner and epigenetic switching is common during cellular differentiation in both human and mouse. PMID:28261266

  19. Parameter-dependent behaviour of periodic channels in a locus of boundary crisis

    NASA Astrophysics Data System (ADS)

    Rankin, James; Osinga, Hinke M.

    2017-06-01

    A boundary crisis occurs when a chaotic attractor outgrows its basin of attraction and suddenly disappears. As previously reported, the locus of a boundary crisis is organised by homo- or heteroclinic tangencies between the stable and unstable manifolds of saddle periodic orbits. In two parameters, such tangencies lead to curves, but the locus of boundary crisis along those curves exhibits gaps or channels, in which other non-chaotic attractors persist. These attractors are stable periodic orbits which themselves can undergo a cascade of period-doubling bifurcations culminating in multi-component chaotic attractors. The canonical diffeomorphic two-dimensional Hénon map exhibits such periodic channels, which are structured in a particular ordered way: each channel is bounded on one side by a saddle-node bifurcation and on the other by a period-doubling cascade to chaos; furthermore, all channels seem to have the same orientation, with the saddle-node bifurcation always on the same side. We investigate the locus of boundary crisis in the Ikeda map, which models the dynamics of energy levels in a laser ring cavity. We find that the Ikeda map features periodic channels with a richer and more general organisation than for the Hénon map. Using numerical continuation, we investigate how the periodic channels depend on a third parameter and characterise how they split into multiple channels with different properties.

  20. The locus of impairment in English developmental letter position dyslexia

    PubMed Central

    Kezilas, Yvette; Kohnen, Saskia; McKague, Meredith; Castles, Anne

    2014-01-01

    Many children with reading difficulties display phonological deficits and struggle to acquire non-lexical reading skills. However, not all children with reading difficulties have these problems, such as children with selective letter position dyslexia (LPD), who make excessive migration errors (such as reading slime as “smile”). Previous research has explored three possible loci for the deficit – the phonological output buffer, the orthographic input lexicon, and the orthographic-visual analysis stage of reading. While there is compelling evidence against a phonological output buffer and orthographic input lexicon deficit account of English LPD, the evidence in support of an orthographic-visual analysis deficit is currently limited. In this multiple single-case study with three English-speaking children with developmental LPD, we aimed to both replicate and extend previous findings regarding the locus of impairment in English LPD. First, we ruled out a phonological output buffer and an orthographic input lexicon deficit by administering tasks that directly assess phonological processing and lexical guessing. We then went on to directly assess whether or not children with LPD have an orthographic-visual analysis deficit by modifying two tasks that have previously been used to localize processing at this level: a same-different decision task and a non-word reading task. The results from these tasks indicate that LPD is most likely caused by a deficit specific to the coding of letter positions at the orthographic-visual analysis stage of reading. These findings provide further evidence for the heterogeneity of dyslexia and its underlying causes. PMID:24917802

  1. The locus of impairment in English developmental letter position dyslexia.

    PubMed

    Kezilas, Yvette; Kohnen, Saskia; McKague, Meredith; Castles, Anne

    2014-01-01

    Many children with reading difficulties display phonological deficits and struggle to acquire non-lexical reading skills. However, not all children with reading difficulties have these problems, such as children with selective letter position dyslexia (LPD), who make excessive migration errors (such as reading slime as "smile"). Previous research has explored three possible loci for the deficit - the phonological output buffer, the orthographic input lexicon, and the orthographic-visual analysis stage of reading. While there is compelling evidence against a phonological output buffer and orthographic input lexicon deficit account of English LPD, the evidence in support of an orthographic-visual analysis deficit is currently limited. In this multiple single-case study with three English-speaking children with developmental LPD, we aimed to both replicate and extend previous findings regarding the locus of impairment in English LPD. First, we ruled out a phonological output buffer and an orthographic input lexicon deficit by administering tasks that directly assess phonological processing and lexical guessing. We then went on to directly assess whether or not children with LPD have an orthographic-visual analysis deficit by modifying two tasks that have previously been used to localize processing at this level: a same-different decision task and a non-word reading task. The results from these tasks indicate that LPD is most likely caused by a deficit specific to the coding of letter positions at the orthographic-visual analysis stage of reading. These findings provide further evidence for the heterogeneity of dyslexia and its underlying causes.

  2. The cytochrome P450 genesis locus: the origin and evolution of animal cytochrome P450s

    PubMed Central

    Nelson, David R.; Goldstone, Jared V.; Stegeman, John J.

    2013-01-01

    The neighbourhoods of cytochrome P450 (CYP) genes in deuterostome genomes, as well as those of the cnidarians Nematostella vectensis and Acropora digitifera and the placozoan Trichoplax adhaerens were examined to find clues concerning the evolution of CYP genes in animals. CYP genes created by the 2R whole genome duplications in chordates have been identified. Both microsynteny and macrosynteny were used to identify genes that coexisted near CYP genes in the animal ancestor. We show that all 11 CYP clans began in a common gene environment. The evidence implies the existence of a single locus, which we term the ‘cytochrome P450 genesis locus’, where one progenitor CYP gene duplicated to create a tandem set of genes that were precursors of the 11 animal CYP clans: CYP Clans 2, 3, 4, 7, 19, 20, 26, 46, 51, 74 and mitochondrial. These early CYP genes existed side by side before the origin of cnidarians, possibly with a few additional genes interspersed. The Hox gene cluster, WNT genes, an NK gene cluster and at least one ARF gene were close neighbours to this original CYP locus. According to this evolutionary scenario, the CYP74 clan originated from animals and not from land plants nor from a common ancestor of plants and animals. The CYP7 and CYP19 families that are chordate-specific belong to CYP clans that seem to have originated in the CYP genesis locus as well, even though this requires many gene losses to explain their current distribution. The approach to uncovering the CYP genesis locus overcomes confounding effects because of gene conversion, sequence divergence, gene birth and death, and opens the way to understanding the biodiversity of CYP genes, families and subfamilies, which in animals has been obscured by more than 600 Myr of evolution. PMID:23297357

  3. Gene Conversion Occurs within the Mating-Type Locus of Cryptococcus neoformans during Sexual Reproduction

    PubMed Central

    Sun, Sheng; Hsueh, Yen-Ping; Heitman, Joseph

    2012-01-01

    Meiotic recombination of sex chromosomes is thought to be repressed in organisms with heterogametic sex determination (e.g. mammalian X/Y chromosomes), due to extensive divergence and chromosomal rearrangements between the two chromosomes. However, proper segregation of sex chromosomes during meiosis requires crossing-over occurring within the pseudoautosomal regions (PAR). Recent studies reveal that recombination, in the form of gene conversion, is widely distributed within and may have played important roles in the evolution of some chromosomal regions within which recombination was thought to be repressed, such as the centromere cores of maize. Cryptococcus neoformans, a major human pathogenic fungus, has an unusually large mating-type locus (MAT, >100 kb), and the MAT alleles from the two opposite mating-types show extensive nucleotide sequence divergence and chromosomal rearrangements, mirroring characteristics of sex chromosomes. Meiotic recombination was assumed to be repressed within the C. neoformans MAT locus. A previous study identified recombination hot spots flanking the C. neoformans MAT, and these hot spots are associated with high GC content. Here, we investigated a GC-rich intergenic region located within the MAT locus of C. neoformans to establish if this region also exhibits unique recombination behavior during meiosis. Population genetics analysis of natural C. neoformans isolates revealed signals of homogenization spanning this GC-rich intergenic region within different C. neoformans lineages, consistent with a model in which gene conversion of this region during meiosis prevents it from diversifying within each lineage. By analyzing meiotic progeny from laboratory crosses, we found that meiotic recombination (gene conversion) occurs around the GC-rich intergenic region at a frequency equal to or greater than the meiotic recombination frequency observed in other genomic regions. We discuss the implications of these findings with regards to the

  4. Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus.

    PubMed

    Labbé, Catherine; Ogaki, Kotaro; Lorenzo-Betancor, Oswaldo; Carrasquillo, Minerva M; Heckman, Michael G; McCarthy, Allan; Soto-Ortolaza, Alexandra I; Walton, Ronald L; Lynch, Timothy; Siuda, Joanna; Opala, Grzegorz; Krygowska-Wajs, Anna; Barcikowska, Maria; Czyzewski, Krzysztof; Dickson, Dennis W; Uitti, Ryan J; Wszolek, Zbigniew K; Ross, Owen A

    2015-01-01

    Genome-wide association studies (GWAS) in Parkinson's disease (PD) have identified over 20 genomic regions associated with disease risk. Many of these loci include several candidate genes making it difficult to pinpoint the causal gene. The locus on chromosome 2q24.3 encompasses three genes: B3GALT1, STK39, and CERS6. In order to identify if the causal variants are simple missense changes, we sequenced all 31 exons of these three genes in 187 patients with PD. We identified 13 exonic variants including four non-synonymous and three insertion/deletion variants (indels). These non-synonymous variants and rs2102808, the GWAS tag SNP, were genotyped in three independent series consisting of a total of 1976 patients and 1596 controls. Our results show that the seven identified 2q24.3 coding variants are not independently responsible for the GWAS association signal at the locus; however, there is a haplotype, which contains both rs2102808 and a STK39 exon 1 6bp indel variant, that is significantly associated with PD risk (Odds Ratio [OR] = 1.35, 95% CI: 1.11-1.64, P = 0.003). This haplotype is more associated than each of the two variants independently (OR = 1.23, P = 0.005 and 1.10, P = 0.10, respectively). Our findings suggest that the risk variant is likely located in a non-coding region. Additional sequencing of the locus including promoter and regulatory regions will be needed to pinpoint the association at this locus that leads to an increased risk to PD.

  5. High-density SNP genotyping to define beta-globin locus haplotypes.

    PubMed

    Liu, Li; Muralidhar, Shalini; Singh, Manisha; Sylvan, Caprice; Kalra, Inderdeep S; Quinn, Charles T; Onyekwere, Onyinye C; Pace, Betty S

    2009-01-01

    Five major beta-globin locus haplotypes have been established in individuals with sickle cell disease (SCD) from the Benin, Bantu, Senegal, Cameroon, and Arab-Indian populations. Historically, beta-haplotypes were established using restriction fragment length polymorphism (RFLP) analysis across the beta-locus, which consists of five functional beta-like globin genes located on chromosome 11. Previous attempts to correlate these haplotypes as robust predictors of clinical phenotypes observed in SCD have not been successful. We speculate that the coverage and distribution of the RFLP sites located proximal to or within the globin genes are not sufficiently dense to accurately reflect the complexity of this region. To test our hypothesis, we performed RFLP analysis and high-density single nucleotide polymorphism (SNP) genotyping across the beta-locus using DNA samples from healthy African Americans with either normal hemoglobin A (HbAA) or individuals with homozygous SS (HbSS) disease. Using the genotyping data from 88 SNPs and Haploview analysis, we generated a greater number of haplotypes than that observed with RFLP analysis alone. Furthermore, a unique pattern of long-range linkage disequilibrium between the locus control region and the beta-like globin genes was observed in the HbSS group. Interestingly, we observed multiple SNPs within the HindIII restriction site located in the Ggamma-globin intervening sequence II which produced the same RFLP pattern. These findings illustrated the inability of RFLP analysis to decipher the complexity of sequence variations that impacts genomic structure in this region. Our data suggest that high-density SNP mapping may be required to accurately define beta-haplotypes that correlate with the different clinical phenotypes observed in SCD.

  6. Organization of the murine Cd22 locus

    SciTech Connect

    Law, Che-Leung; Torres, R.M.; Sundeberg, H.A.; Clark, E.A ); Parkhouse, R.M.E. ); Brannan, C.I.; Copeland, N.G.; Jenkins, N.A. )

    1993-07-01

    Murine CD22 (mCD22) is a B cell-associated adhesion protein with seven extracellular Ig-like domains that has 62% amino acid identify to its human homologue. Southern analysis on genomic DNA isolated from tissues and cell lines from several mouse strains using mCD22 cDNA demonstrated that the Cd22 locus encoding mCD22 is a single copy gene of [le]30 kb. Digestion of genomic DNA preparations with four restriction endonucleases revealed the presence of restriction fragment length polymorphisms (RFLP) in BALB/c, C57BL/6, and C3H strains vs DBA/2j, NZB, and NZC strains, suggesting the presence of two or more Cd22 alleles. Using a mCD22 cDNA clone derived from the BALB/c strain, the authors isolated genomic clones from a DBA/2 genomic library that contained all the exons necessary to encode the full length mCD22 cDNA. Fifteen exons, including exon 3 that encodes the translation start codon, were identified. Each extracellular Ig-like domain of mCD22 is encoded by a single exon. A comparison between the nucleotide sequences of the BALB/c CD22 cDNA and the exons of the DBA/2j CD22 genomic clones revealed an 18-nucleotide deletion in exon 4 (encoding the most distal Ig-like domain 1 of mCD22) of the DBA/2j genomic sequence in addition to a number of substitutions, insertions, and deletions in other exons. These nucleotide differences were also present in a cDNA clone isolated from total RNA of LPS-activated DBA/2j splenocytes mosome 7, a region sytenic to human chromosome 19q, close to the previously reported loci, Lyb-8 and Mag (a homologue of Cd22). An antibody (CY34) against the Lyb-8.2 B cell marker reacted with a BHK transfectant expressing the full length mCd22 cDNA, thus demonstrating that Lyb-8 and Cd22 loci are identical. Furthermore, a rat anti-mCD22 mAb, NIM-R6, bound to slgM[sup +] DBA/2j B cells, confirming the expression of a CD22 protein by the Cd22[sup a]/lyb-8[sup a] allele. 63 refs., 7 figs., 1 tab.

  7. Histone Chaperone Nap1 Is a Major Regulator of Histone H2A-H2B Dynamics at the Inducible GAL Locus

    PubMed Central

    Chen, Xu; D'Arcy, Sheena; Radebaugh, Catherine A.; Krzizike, Daniel D.; Giebler, Holli A.; Huang, Liangquan; Nyborg, Jennifer K.; Luger, Karolin

    2016-01-01

    Histone chaperones, like nucleosome assembly protein 1 (Nap1), play a critical role in the maintenance of chromatin architecture. Here, we use the GAL locus in Saccharomyces cerevisiae to investigate the influence of Nap1 on chromatin structure and histone dynamics during distinct transcriptional states. When the GAL locus is not expressed, cells lacking Nap1 show an accumulation of histone H2A-H2B but not histone H3-H4 at this locus. Excess H2A-H2B interacts with the linker DNA between nucleosomes, and the interaction is independent of the inherent DNA-binding affinity of H2A-H2B for these particular sequences as measured in vitro. When the GAL locus is transcribed, excess H2A-H2B is reversed, and levels of all chromatin-bound histones are depleted in cells lacking Nap1. We developed an in vivo system to measure histone exchange at the GAL locus and observed considerable variability in the rate of exchange across the locus in wild-type cells. We recapitulate this variability with in vitro nucleosome reconstitutions, which suggests a contribution of DNA sequence to histone dynamics. We also find that Nap1 is required for transcription-dependent H2A-H2B exchange. Altogether, these results indicate that Nap1 is essential for maintaining proper chromatin composition and modulating the exchange of H2A-H2B in vivo. PMID:26884462

  8. [The significance of the relationship between external/internal locus of control and adolescent substance use in behavioral medicine].

    PubMed

    Pikó, Bettina; Kovács, Eszter; Kriston, Pálma

    2011-02-27

    Prevention and treatment of the addictions are key public health priorities in modern society. In medical practice, in relation to the biochemical processes, mapping the addiction-prone personality traits, like external/internal locus of control are getting more and more attention. Individuals with high level on internal locus of control, for example, tend to take care of their health behavior; the lack of it, on the other hand, may worsen the effectiveness of stress release which may increase the likelihood of turning to substance use. The main goal of the present study was to investigate the relationship between adolescent substance use (both lifetime prevalence and the actual substance user status) and external/internal locus of control). The data collection of the questionnaire survey was going on among 656 high school students in Szeged (age range between 14-21 years, mean = 16.5 years, S.D. = 1.5 years of age, 49.1% of the sample was female). Associations between indicators of substance use (as dependent variables) and scale points of external/internal locus of control (as independent variables) were assessed using odds ratios calculated by logistic regression analyses, whereas gender was used as a controlling variable. Among boys, scale points of external, among girls, those of internal locus of control showed higher values. External locus of control increased, whereas internal locus of control decreased the risk of substance use, however, the relative role of external/internal locus of control was different according to the type of substance use and the prevalence values. In terms of smoking, lifetime prevalence, whereas in terms of marijuana use, the actual user status was influenced. In addition, while the latter one was also affected by gender, it did not play a role at all in the previous one. All these findings suggest that behavioral control may play a particularly important role in prevention of adolescent substance use. For developing this, methods

  9. Comparative Genomics of the Ectomycorrhizal Sister Species Rhizopogon vinicolor and Rhizopogon vesiculosus (Basidiomycota: Boletales) Reveals a Divergence of the Mating Type B Locus

    PubMed Central

    Mujic, Alija Bajro; Kuo, Alan; Tritt, Andrew; Lipzen, Anna; Chen, Cindy; Johnson, Jenifer; Sharma, Aditi; Barry, Kerrie; Grigoriev, Igor V.; Spatafora, Joseph W.

    2017-01-01

    Divergence of breeding system plays an important role in fungal speciation. Ectomycorrhizal fungi, however, pose a challenge for the study of reproductive biology because most cannot be mated under laboratory conditions. To overcome this barrier, we sequenced the draft genomes of the ectomycorrhizal sister species Rhizopogon vinicolor Smith and Zeller and R. vesiculosus Smith and Zeller (Basidiomycota, Boletales)—the first genomes available for Basidiomycota truffles—and characterized gene content and organization surrounding their mating type loci. Both species possess a pair of homeodomain transcription factor homologs at the mating type A-locus as well as pheromone receptor and pheromone precursor homologs at the mating type B-locus. Comparison of Rhizopogon genomes with genomes from Boletales, Agaricales, and Polyporales revealed synteny of the A-locus region within Boletales, but several genomic rearrangements across orders. Our findings suggest correlation between gene content at the B-locus region and breeding system in Boletales with tetrapolar species possessing more diverse gene content than bipolar species. Rhizopogon vinicolor possesses a greater number of B-locus pheromone receptor and precursor genes than R. vesiculosus, as well as a pair of isoprenyl cysteine methyltransferase genes flanking the B-locus compared to a single copy in R. vesiculosus. Examination of dikaryotic single nucleotide polymorphisms within genomes revealed greater heterozygosity in R. vinicolor, consistent with increased rates of outcrossing. Both species possess the components of a heterothallic breeding system with R. vinicolor possessing a B-locus region structure consistent with tetrapolar Boletales and R. vesiculosus possessing a B-locus region structure intermediate between bipolar and tetrapolar Boletales. PMID:28450370

  10. Subcultural Determinants of Locus of Control (IE) Development. A Locus of Control (IE) Measure for Preschool-Age Children: Model, Method, and Validity.

    ERIC Educational Resources Information Center

    Stephens, Mark; Delys, Pamela

    Both papers are concerned with locus of control (of reinforcement) expectancies among young children, especially preschoolers. The first reviews a number of studies which examined the relationship between locus of control, socioeconomic status, and ethnicity. The results indicate that (1) economic status is consistently related to locus of…

  11. Degeneration of the locus ceruleus noradrenergic neurons in the stress-induced depression of rats.

    PubMed

    Kitayama, Isao T; Otani, Masato; Murase, Sumio

    2008-12-01

    We produced a model of depression in rats which have been exposed to 2-weeks forced walking stress. Electron microscopic observation on the locus ceruleus (LC) cells of the model rats disclosed low dense areas, destroyed membranes, aggregation of intracellular organs, and increased microglia. Density of LC axon terminals in the frontal cortex stained with dopamine beta-hydroxylase antiserum and percentage of LC cells stained with horseradish peroxidase or activated by electrical stimulation antidromically were low in the model. These indices increased in the model treated with imipramine. These findings suggest that the LC noradrenergic neurons degenerate in depression, but regenerate in remission.

  12. Sequential design of linear quadratic state regulators via the optimal root-locus techniques

    NASA Technical Reports Server (NTRS)

    Shieh, L. S.; Dib, H. M.; Yates, R. E.

    1988-01-01

    The use of well-known root-locus techniques for sequentially finding the weighting matrices and the linear quadratic state regulators of multivariable control systems in the frequency domain is considered. This sequential design method permits the retention of some stable open-loop poles and the associated eigenvectors in the closed-loop system; it also allows some optimal closed-loop poles to be placed in a specific region of the complex plane. In addition, it provides a design procedure for determining the weighting matrices and linear quadratic state regulators for the optimal control of multivariable systems in the frequency domain.

  13. Sequential design of linear quadratic state regulators via the optimal root-locus techniques

    NASA Technical Reports Server (NTRS)

    Shieh, L. S.; Dib, H. M.; Yates, R. E.

    1988-01-01

    The use of well-known root-locus techniques for sequentially finding the weighting matrices and the linear quadratic state regulators of multivariable control systems in the frequency domain is considered. This sequential design method permits the retention of some stable open-loop poles and the associated eigenvectors in the closed-loop system; it also allows some optimal closed-loop poles to be placed in a specific region of the complex plane. In addition, it provides a design procedure for determining the weighting matrices and linear quadratic state regulators for the optimal control of multivariable systems in the frequency domain.

  14. [Influence of B locus on avian viral induced tumours].

    PubMed

    Cauchy, L; Dambrine, G; Coudert, F

    1982-01-01

    Since early in the century Avian Cancers were described as induced by viruses which later were known of DNA and RNA types. The susceptibility of birds was found different according to the genetic lines of the chickens and specially to the B locus blood group. Since the B locus of birds was strongly associated with the Major Histocompatibility Complex (MHC) it was of interest to review the last reports on the influence of the B locus on viral induced tumours. In Marek's Disease due to a DNA virus (Herpes type) the B21 allele expresses the greater resistance compared with other B alleles although non-B factors could be involved as demonstrated with the lymphocyte factor Ly-4. The possible mechanisms of the influence of B locus on the resistance against Marek's Disease are discussed. The tumours induced by RNA viruses (Avian Leucosis Sarcomas) develop or regress following genetic characters closely related to MHC. Differences of resistance exist between B alleles. Complementary genes should be present to fully express the resistance. The relationship between MHC-B locus and resistance to tumors stimulates the actual assays. Since a number of parameters remain still unknown further researches should be done in order to evidence the involved mechanisms of the resistance.

  15. Impulsiveness, locus of control, motivation and problem gambling.

    PubMed

    Clarke, Dave

    2004-01-01

    A questionnaire consisting of demographic items, questions about gambling behavior, the South Oaks Gambling Screen (SOGS), a depression inventory, the Eysenck Impulsiveness Questionnaire, Levenson's Internality, Powerful Others and Chance Scales of locus of control and the Gambling Motivation Scale, was completed by a non-random sample of 147 New Zealand university students who gambled for money, median age 24 years. Approximately 17 of the sample was classified as problem gamblers, the rest as non-problem gamblers. Multivariate analysis of variance showed that there were significant differences between problem and non-problem gamblers on gambling frequency, number of activities, parents' gambling, depression, impulsiveness and motivation, but not on locus of control. Amotivation (apathy) and motivation towards stimulation correlated with powerful others and chance locus of control, and motivation to impress others with powerful others locus of control. Hierarchical regression analysis showed that: (1) beyond gambling frequency, number of activities and parents' gambling, motivation explained a substantial proportion of variance in SOGS scores, with impulsiveness accounting for a lesser amount, and (2) predictors of problem gambling included impulsiveness, amotivation and the motivations for accomplishment and tension release. It was concluded that gambling motivation is a more useful construct than locus of control in explaining problem gambling. Suggestions were made for future research, and aspects of gambling motivation were discussed in terms of a treatment program with groups of problem gamblers.

  16. Inferring Demographic History Using Two-Locus Statistics.

    PubMed

    Ragsdale, Aaron P; Gutenkunst, Ryan N

    2017-06-01

    Population demographic history may be learned from contemporary genetic variation data. Methods based on aggregating the statistics of many single loci into an allele frequency spectrum (AFS) have proven powerful, but such methods ignore potentially informative patterns of linkage disequilibrium (LD) between neighboring loci. To leverage such patterns, we developed a composite-likelihood framework for inferring demographic history from aggregated statistics of pairs of loci. Using this framework, we show that two-locus statistics are more sensitive to demographic history than single-locus statistics such as the AFS. In particular, two-locus statistics escape the notorious confounding of depth and duration of a bottleneck, and they provide a means to estimate effective population size based on the recombination rather than mutation rate. We applied our approach to a Zambian population of Drosophila melanogaster Notably, using both single- and two-locus statistics, we inferred a substantially lower ancestral effective population size than previous works and did not infer a bottleneck history. Together, our results demonstrate the broad potential for two-locus statistics to enable powerful population genetic inference. Copyright © 2017 by the Genetics Society of America.

  17. Lack of direct evidence for natural selection at the candidate thrifty gene locus, PPARGC1A.

    PubMed

    Cadzow, Murray; Merriman, Tony R; Boocock, James; Dalbeth, Nicola; Stamp, Lisa K; Black, Michael A; Visscher, Peter M; Wilcox, Phillip L

    2016-11-15

    The gene PPARGC1A, in particular the Gly482Ser variant (rs8192678), had been proposed to be subject to natural selection, particularly in recent progenitors of extant Polynesian populations. Reasons include high levels of population differentiation and increased frequencies of the derived type 2 diabetes (T2D) risk 482Ser allele, and association with body mass index (BMI) in a small Tongan population. However, no direct statistical tests for selection have been applied. Using a range of Polynesian populations (Tongan, Māori, Samoan) we re-examined evidence for association between Gly482Ser with T2D and BMI as well as gout. Using also Asian, European, and African 1000 Genome Project samples a range of statistical tests for selection (F ST, integrated haplotype score (iHS), cross population extended haplotype homozygosity (XP-EHH), Tajima's D and Fay and Wu's H) were conducted on the PPARGC1A locus. No statistically significant evidence for association between Gly482Ser and any of BMI, T2D or gout was found. Population differentiation (F ST) was smallest between Asian and Pacific populations (New Zealand Māori ≤ 0.35, Samoan ≤ 0.20). When compared to European (New Zealand Māori ≤ 0.40, Samoan ≤ 0.25) or African populations (New Zealand Māori ≤ 0.80, Samoan ≤ 0.66) this differentiation was larger. We did not find any strong evidence for departure from neutral evolution at this locus when applying any of the other statistical tests for selection. However, using the same analytical methods, we found evidence for selection in specific populations at previously identified loci, indicating that lack of selection was the most likely explanation for the lack of evidence of selection in PPARGC1A. We conclude that there is no compelling evidence for selection at this locus, and that this gene should not be considered a candidate thrifty gene locus in Pacific populations. High levels of population differentiation at this locus and the

  18. Multidimensional health locus of control and depressive symptoms in the multi-ethnic population of the Netherlands.

    PubMed

    van Dijk, Tobias K; Dijkshoorn, Henriëtte; van Dijk, Ad; Cremer, Stephan; Agyemang, Charles

    2013-12-01

    Ethnic inequalities in health in Western societies are well-documented but poorly understood. We examined associations between health locus of control (HLC) and depressive symptoms among native and non-native Dutch people in the Netherlands. We used hierarchical multiple linear regression analyses on a representative sample of the multi-ethnic population of Amsterdam and The Hague (n = 10,302). HLC was measured with the multidimensional health locus of control scale. Depressive symptoms were measured with the Kessler Psychological Distress scale. Multivariate analyses showed that HLC contributes to ethnic differences in the prevalence of depressive symptoms. Respondents who scored high on external locus of control (PHLC) were more likely to have depressive symptoms than those with a low score on PHLC (β = 0.133, p < 0.001). Conversely, respondents scoring high on internal locus of control (IHLC) were less likely to have depressive symptoms compared to those scoring low on IHLC (β = -0.134, p < 0.001). The associations were most pronounced among Turkish-Dutch and Moroccan-Dutch respondents. Our findings suggest that HLC contributes to ethnic inequalities in depressive symptoms, especially among Turkish and Moroccan ethnic groups. Professionals (e.g. clinicians and policy makers) need to take HLC into account when assessing and treating depression among ethnic minority groups, particularly in Turkish and Moroccan populations. Future research should look further into the associations within these groups.

  19. Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B

    SciTech Connect

    Soares, V.M.; Brzustowicz, L.M.; Kleyn, P.W.; Knowles, J.A.; Palmer, D.A.; Asokan, S.; Penchaszadeh, G.K.; Gilliam, T.C. ); Munsat, T.L. )

    1993-02-01

    The childhood-onset SMA locus has been mapped to chromosome 5q13, in a region bounded by the proximal locus, D5S6, and the closely linked distal loci, D5S112 and MAP1B. We now describe a highly polymorphic, tightly linked microsatellite marker (D5S435) that is very likely the closet proximal marker to the SMA locus. Multipoint linkage analysis firmly establishes the following order of markers at 5q13; centromere-D5S76-D5S6-D5S435-MAP1B/D5S112-D5S39-telomere. The data indicate that SMA resides in an approximately 0.7-cM (range 01.-2.1) region between D5S435 and MAP1B. This finding reduces by approximately fourfold the genetic region that most likely harbors the SMA locus and will facilitate the physical mapping and cloning of the disease gene region. 24 refs., 3 figs., 1 tab.

  20. Examining relations between locus of control, loneliness, subjective well-being, and preference for online social interaction.

    PubMed

    Ye, Yinghua; Lin, Lin

    2015-02-01

    The unprecedented popularity of online communication has raised interests and concerns among the public as well as in scholarly circles. Online communications have pushed people farther away from one another. This study is a further examination of the effects of online communications on well-being, in particular: Locus of control, Loneliness, Subjective well-being, and Preference for online social interaction. Chinese undergraduate students (N = 260; 84 men, 176 women; M age = 20.1 yr., SD = 1.2) were questioned about demographic information and use of social media as well as four previously validated questionnaires related to well-being. Most participants used QQ, a popular social networking program, as the major channel for online social interactions. Locus of control was positively related to Loneliness and Preference for online social interaction, but negatively related to Subjective well-being; Loneliness (positively) and Subjective well-being (negatively) were related to Preference for online social interaction; and Loneliness and Subjective well-being had a full mediating effect between the relationships of Locus of control and Preference for online social interaction. The findings of the study showed that more lonely, unhappy, and externally controlled students were more likely to be engaged in online social interaction. Improving students' locus of control, loneliness, and happiness may help reduce problematic Internet use.

  1. Mental health promotion of Iranian university students: the effect of self-esteem and health locus of control.

    PubMed

    Moshki, M; Amiri, M; Khosravan, S

    2012-10-01

    The purpose of this study was to investigate the effect of self-esteem and health control belief on promoting students' mental health. In so doing, 144 students from two medical universities in the north-east of Iran were recruited into study. They were pair-matched and randomly assigned to case and control groups. The data were collected through Goldberg's General Health Questionnaire-28, Multidimensional Health Locus of Control and Rosenberg's Self-Esteem Scales. The results showed that there were significant differences between the groups before and after the intervention. The external components of health locus of control (chance and powerful others) showed a significant decrease but the internal health locus of control and self-esteem revealed a significant increase after the intervention (P < 0.0001). Moreover, the students' mental health had a significant increase after 3 months of intervention (P < 0.0001). The findings emphasize that the programme can improve the health locus of control beliefs, self-esteem and mental health promotion of the students. This will require additional monitoring and uninterrupted attempts to be effective. © 2011 Blackwell Publishing.

  2. Two-Locus Heterogeneity Cannot Be Distinguished from Two-Locus Epistasis on the Basis of Affected-Sib-Pair Data

    PubMed Central

    Vieland, Veronica J.; Huang, Jian

    2003-01-01

    The observation of multiple linkage signals in the course of conducting genome screens for complex disorders raises the question of whether distinct genes represent independent causes of disease (heterogeneity) or whether they interact to produce the phenotype of interest (epistasis); and there has been a corresponding interest in statistical methods for detecting and/or exploiting the distinction between these two possibilities. At the same time, researchers are increasingly relying on affected-sib-pair (ASP) data. Here, we demonstrate an apparently unrecognized fact about two-locus (2L) models and ASP data, namely, 2L heterogeneity and 2L epistasis cannot, in general, be distinguished from one another on the basis of ASP marker data, as a matter of mathematical principle and therefore regardless of sample size. By the same token, correlations across ASPs in single-locus LOD scores or other measures also cannot be used to distinguish 2L heterogeneity from 2L epistasis. This raises questions about the measurement of gene-gene interactions in terms of patterns of correlation in marker data. Portions of our results carry over to larger pedigree structures as well, as long as only affected individuals are included in analyses; the extent to which our overall findings apply to general pedigrees (including unaffected individuals) remains to be investigated. PMID:12830401

  3. Characterization of the spv locus in Salmonella enterica serovar Arizona.

    PubMed

    Libby, Stephen J; Lesnick, Marc; Hasegawa, Patricia; Kurth, Michael; Belcher, Christopher; Fierer, Joshua; Guiney, Donald G

    2002-06-01

    Salmonella enterica serovar Arizona (S. enterica subspecies IIIa) is a common Salmonella isolate from reptiles and can cause serious systemic disease in humans. The spv virulence locus, found on large plasmids in Salmonella subspecies I serovars associated with severe infections, was confirmed to be located on the chromosome of serovar Arizona. Sequence analysis revealed that the serovar Arizona spv locus contains homologues of spvRABC but lacks the spvD gene and contains a frameshift in spvA, resulting in a different C terminus. The SpvR protein functions as a transcriptional activator for the spvA promoter, and SpvB and SpvC are highly conserved. The analysis supports the proposal that the chromosomal spv sequence more closely corresponds to the ancestral locus acquired during evolution of S. enterica, with plasmid acquisition of spv genes in the subspecies I strains involving addition of spvD and polymorphisms in spvA.

  4. Lupus vulgaris occurring in a locus minoris resistentiae.

    PubMed

    Long, Richard; Beatch, Anita; Lee, Mao-Cheng; Cheung-Lee, Melody; Wasel, Norman

    2009-01-01

    The pathogenesis of lupus vulgaris, a form of cutaneous tuberculosis, is not always clear, especially in patients who do not have coexistent extracutaneous tuberculosis and in patients with single lesions. To report a case of lupus vulgaris in a locus minoris resistentiae (a site of reduced resistance) and to use a unique set of clinical circumstances and laboratory tests to reconstruct the pathogenesis of the lesion and the response to treatment. Lupus vulgaris can occur in a locus minoris resistentiae; local trauma and possibly other factors, such as increased temperature, topical corticosteroids, and the virulence of the infecting strain, may facilitate the growth of Mycobacterium tuberculosis present at a locus minoris resistentiae as a result of a silent bacillemia.

  5. Tension versus ecological zones in a two-locus system.

    PubMed

    Hu, Xin-Sheng

    2005-08-01

    Previous theories show that tension and ecological zones are indistinguishable in terms of gene frequency clines. Here I analytically show that these two types of zones can be distinguished in terms of genetic statistics other than gene frequency. A two-locus cline model is examined with the assumptions of random mating, weak selection, no drift, no mutation, and multiplicative viabilities. The genetic statistics for distinguishing the two types of zones are the deviations of one- or two-locus genotypic frequencies from Hardy-Weinberg equilibrium (HWE) or from random association of gametes (RAG), and the deviations of additive and dominance variances from the values at HWE. These deviations have a discontinuous distribution in space and different extents of interruptions in the ecological zone with a sharp boundary, but exhibit a continuous distribution in the tension zone. Linkage disequilibrium enhances the difference between the deviations from HWE and from RAG for any two-locus genotypic frequency.

  6. Organization of the locus coeruleus-norepinephrine system.

    PubMed

    Schwarz, Lindsay A; Luo, Liqun

    2015-11-02

    The release of the neurotransmitter norepinephrine throughout the mammalian brain is important for modulating attention, arousal, and cognition during many behaviors. Furthermore, disruption of norepinephrine-mediated signaling is strongly associated with several psychiatric and neurodegenerative disorders in humans, emphasizing the clinical importance of this system. Most of the norepinephrine released in the brain is supplied by a very small, bilateral nucleus in the brainstem called the locus coeruleus. The goal of this minireview is to emphasize the complexity of the locus coeruleus beyond its primary definition as a norepinephrine-producing nucleus. Several recent studies utilizing innovative technologies highlight how the locus coeruleus-norepinephrine system can now be targeted with increased accuracy and resolution, in order to better understand its role in modulating diverse behaviors.

  7. Locus-specific view of flax domestication history

    PubMed Central

    Fu, Yong-Bi; Diederichsen, Axel; Allaby, Robin G

    2012-01-01

    Crop domestication has been inferred genetically from neutral markers and increasingly from specific domestication-associated loci. However, some crops are utilized for multiple purposes that may or may not be reflected in a single domestication-associated locus. One such example is cultivated flax (Linum usitatissimum L.), the earliest oil and fiber crop, for which domestication history remains poorly understood. Oil composition of cultivated flax and pale flax (L. bienne Mill.) indicates that the sad2 locus is a candidate domestication locus associated with increased unsaturated fatty acid production in cultivated flax. A phylogenetic analysis of the sad2 locus in 43 pale and 70 cultivated flax accessions established a complex domestication history for flax that has not been observed previously. The analysis supports an early, independent domestication of a primitive flax lineage, in which the loss of seed dispersal through capsular indehiscence was not established, but increased oil content was likely occurred. A subsequent flax domestication process occurred that probably involved multiple domestications and includes lineages that contain oil, fiber, and winter varieties. In agreement with previous studies, oil rather than fiber varieties occupy basal phylogenetic positions. The data support multiple paths of flax domestication for oil-associated traits before selection of the other domestication-associated traits of seed dispersal loss and fiber production. The sad2 locus is less revealing about the origin of winter tolerance. In this case, a single domestication-associated locus is informative about the history of domesticated forms with the associated trait while partially informative on forms less associated with the trait. PMID:22408732

  8. Dual-task performance with ideomotor-compatible tasks: is the central processing bottleneck intact, bypassed, or shifted in locus?

    NASA Technical Reports Server (NTRS)

    Lien, Mei-Ching; McCann, Robert S.; Ruthruff, Eric; Proctor, Robert W.

    2005-01-01

    The present study examined whether the central bottleneck, assumed to be primarily responsible for the psychological refractory period (PRP) effect, is intact, bypassed, or shifted in locus with ideomotor (IM)-compatible tasks. In 4 experiments, factorial combinations of IM- and non-IM-compatible tasks were used for Task 1 and Task 2. All experiments showed substantial PRP effects, with a strong dependency between Task 1 and Task 2 response times. These findings, along with model-based simulations, indicate that the processing bottleneck was not bypassed, even with two IM-compatible tasks. Nevertheless, systematic changes in the PRP and correspondence effects across experiments suggest that IM compatibility shifted the locus of the bottleneck. The findings favor an engage-bottleneck-later hypothesis, whereby parallelism between tasks occurs deeper into the processing stream for IM- than for non-IM-compatible tasks, without the bottleneck being actually eliminated.

  9. Healthcare associated infection: good practices, knowledge and the locus of control in heatlhcare professionals.

    PubMed

    Taffurelli, Chiara; Sollami, Alfonso; Camera, Carmen; Federa, Francesca; Grandi, Annise; Marino, Marcella; Marrosu, Tiziano; Sarli, Leopoldo

    2017-07-18

    awareness about HAI , Knowledge, and Locus of Control. The study findings demonstrated that good practice awareness towards HAI among nurse and physician was good but not completely optimal. Findings revealed that knowledge toward HAI prevention and HAI related device prevention were not completely adequate. The educational courses, according to our correlational findings, should definitely take into account the psycho-social aspects of this phenomenon.

  10. Neighborhood Vigilance, Health Locus of Control, and Smoking Abstinence

    PubMed Central

    Reitzel, Lorraine R.; Lahoti, Sejal; Li, Yisheng; Cao, Yumei; Wetter, David W.; Waters, Andrew J.; Vidrine, Jennifer Irvin

    2012-01-01

    Objectives To examine whether health locus of control mediated relations of self-reported neighborhood vigilance and biochemically verified, continuous short-term smoking abstinence among 200 smokers enrolled in a cohort study. Methods A nonparametric bootstrapping procedure was used to assess mediation. Results Health locus of control-chance mediated relations between neighborhood vigilance and smoking abstinence in analyses adjusted for sociodemographics and tobacco dependence (p < .05). Greater vigilance was associated with greater attributions that health was affected by chance, which was associated with a lower likelihood of smoking abstinence. Conclusions Results suggest that neighborhood perceptions influence residents’ attributions for health outcomes, which can affect smoking abstinence. PMID:23985180

  11. Controlling-Element Events at the Shrunken Locus in Maize

    PubMed Central

    Burr, B.; Burr, F. A.

    1981-01-01

    We have examined insertions of the controlling element Ds at the Shrunken locus of maize. A cDNA probe complementary to a portion of the Shrunken locus mRNA was prepared. This probe recognizes a unique sequence in maize DNA. Using lines carrying derivatives of the same short arm of chromosome 9, we have detected modifications at the nucleic acid level caused by Ds. The changes appear to be large insertions, one of which may be more than 20 kilobase pairs in length. These observations provide a basis for the isolation and molecular characterization of one of the maize controlling elements. PMID:17249083

  12. Locus of control and attitudes toward large carnivores.

    PubMed

    Bjerke, T; Vittersø, J; Kaltenborn, B P

    2000-02-01

    It has been hypothesized tha the negative attitudes toward carnivores found among rural groups is only one element embedded in a larger sociopolitical complex of disputes over resource use and rural development. Negative attitudes may reflect a protest against increased control of land use by central political authorities. In a survey among sheep farmers, wildlife managers, and research biologists in Norway we found that the sheep farmers expressed an external locus of control, indicating a belief that external forces control events, relative to the two other groups. Among sheep farmers and research biologists a positive association was found between an external locus of control and negative attitudes toward large carnivores.

  13. History of the discovery of a master locus producing piRNAs: the flamenco/COM locus in Drosophila melanogaster

    PubMed Central

    Coline, Goriaux; Théron, Emmanuelle; Brasset, Emilie; Vaury, Chantal

    2014-01-01

    The discovery of transposable elements (TEs) in the 1950s by B. McClintock implied the existence of cellular regulatory systems controlling TE activity. The discovery of flamenco (flam) an heterochromatic locus from Drosophila melanogaster and its ability to survey several TEs such as gypsy, ZAM, and Idefix contributed to peer deeply into the mechanisms of the genetic and epigenetic regulation of TEs. flam was the first cluster producing small RNAs to be discovered long before RNAi pathways were identified in 1998. As a result of the detailed genetic analyses performed by certain laboratories and of the sophisticated genetic tools they developed, this locus has played a major role in our understanding of piRNA mediated TE repression in animals. Here we review the first discovery of this locus and retrace decades of studies that led to our current understanding of the relationship between genomes and their TE targets. PMID:25136352

  14. History of the discovery of a master locus producing piRNAs: the flamenco/COM locus in Drosophila melanogaster.

    PubMed

    Goriaux, Coline; Théron, Emmanuelle; Brasset, Emilie; Vaury, Chantal

    2014-01-01

    The discovery of transposable elements (TEs) in the 1950s by B. McClintock implied the existence of cellular regulatory systems controlling TE activity. The discovery of flamenco (flam) an heterochromatic locus from Drosophila melanogaster and its ability to survey several TEs such as gypsy, ZAM, and Idefix contributed to peer deeply into the mechanisms of the genetic and epigenetic regulation of TEs. flam was the first cluster producing small RNAs to be discovered long before RNAi pathways were identified in 1998. As a result of the detailed genetic analyses performed by certain laboratories and of the sophisticated genetic tools they developed, this locus has played a major role in our understanding of piRNA mediated TE repression in animals. Here we review the first discovery of this locus and retrace decades of studies that led to our current understanding of the relationship between genomes and their TE targets.

  15. Heterotic trait locus (HTL) mapping identifies intra-locus interactions that underlie reproductive hybrid vigor in Sorghum bicolor.

    PubMed

    Ben-Israel, Imri; Kilian, Benjamin; Nida, Habte; Fridman, Eyal

    2012-01-01

    Identifying intra-locus interactions underlying heterotic variation among whole-genome hybrids is a key to understanding mechanisms of heterosis and exploiting it for crop and livestock improvement. In this study, we present the development and first use of the heterotic trait locus (HTL) mapping approach to associate specific intra-locus interactions with an overdominant heterotic mode of inheritance in a diallel population using Sorghum bicolor as the model. This method combines the advantages of ample genetic diversity and the possibility of studying non-additive inheritance. Furthermore, this design enables dissecting the latter to identify specific intra-locus interactions. We identified three HTLs (3.5% of loci tested) with synergistic intra-locus effects on overdominant grain yield heterosis in 2 years of field trials. These loci account for 19.0% of the heterotic variation, including a significant interaction found between two of them. Moreover, analysis of one of these loci (hDPW4.1) in a consecutive F2 population confirmed a significant 21% increase in grain yield of heterozygous vs. homozygous plants in this locus. Notably, two of the three HTLs for grain yield are in synteny with previously reported overdominant quantitative trait loci for grain yield in maize. A mechanism for the reproductive heterosis found in this study is suggested, in which grain yield increase is achieved by releasing the compensatory tradeoffs between biomass and reproductive output, and between seed number and weight. These results highlight the power of analyzing a diverse set of inbreds and their hybrids for unraveling hitherto unknown allelic interactions mediating heterosis.

  16. Germline mosaicism at the fragile X locus

    SciTech Connect

    Prior, T.W.; Papp, A.C.; Snyder, P.J.

    1995-01-30

    We have identified a fragile X syndrome pedigree where the disorder is associated with a molecular deletion. The deletion was present in the DNA of 2 sons but was absent in the mother`s somatic cell (lymphocyte) DNA. The results are consistent with the deletion arising as a postzygotic event in the mother, who therefore is germinally mosaic. This finding has important implications for counseling fragile X families with deletion mutations. 13 refs., 2 figs.

  17. Germline mosaicism at the fragile X locus.

    PubMed

    Prior, T W; Papp, A C; Snyder, P J; Sedra, M S; Guida, M; Enrile, B G

    1995-01-30

    We have identified a fragile X syndrome pedigree where the disorder is associated with a molecular deletion. The deletion was present in the DNA of 2 sons but was absent in the mother's somatic cell (lymphocyte) DNA. The results are consistent with the deletion arising as a postzygotic event in the mother, who therefore is germinally mosaic. This finding has important implications for counseling fragile X families with deletion mutations.

  18. Mapping of the nadB Locus Adjacent to a Previously Undescribed Purine Locus in Escherichia coli K-12

    PubMed Central

    Tritz, Gerald J.; Matney, Thomas S.; Gholson, Robert K.

    1970-01-01

    It is proposed that all mutants blocked in the de novo pathway of nicotinamide adenine dinucleotide biosynthesis be designated nad rather than nic. It is further suggested that mutants blocked in the pyridine nucleotide cycle be designated pnc. The nadB locus and a previously unidentified pur locus are cotransducible. These two loci have been mapped near minute 49 on the standard genetic map of Escherichia coli. The order of genes in that region is purC-guaB-purG-glyA-pur-nadB-tyrA-pheA. PMID:4315893

  19. Mapping of the nadB locus adjacent to a previously undescribed purine locus in Escherichia coli K-12.

    PubMed

    Tritz, G J; Matney, T S; Gholson, R K

    1970-05-01

    It is proposed that all mutants blocked in the de novo pathway of nicotinamide adenine dinucleotide biosynthesis be designated nad rather than nic. It is further suggested that mutants blocked in the pyridine nucleotide cycle be designated pnc. The nadB locus and a previously unidentified pur locus are cotransducible. These two loci have been mapped near minute 49 on the standard genetic map of Escherichia coli. The order of genes in that region is purC-guaB-purG-glyA-pur-nadB-tyrA-pheA.

  20. Region-Urbanicity Differences in Locus of Control: Social Disadvantage, Structure, or Cultural Exceptionalism?

    PubMed Central

    Shifrer, Dara; Sutton, April

    2014-01-01

    People with internal rather than external locus of control experience better outcomes in multiple domains. Previous studies on spatial differences in control within America only focused on the South, relied on aggregate level data or historical evidence, or did not account for other confounding regional distinctions (such as variation in urbanicity). Using data from the National Education Longitudinal Study, we find differences in adolescents' loci of control depending on their region and urbanicity are largely attributable to differences in their social background, and only minimally to structural differences (i.e., differences in the qualities of adolescents' schools). Differences that persist net of differences across adolescents and their schools suggest the less internal control of rural Southern adolescents, and the more internal control of rural and urban Northeastern adolescents, may be due to cultural distinctions in those areas. Results indicate region is more closely associated than urbanicity with differences in locus of control, with Western and Northeastern cultures seemingly fostering more internal control than Midwestern and Southern cultures. These findings contribute to research on spatial variation in a variety of psychological traits. PMID:25382875

  1. Region-Urbanicity Differences in Locus of Control: Social Disadvantage, Structure, or Cultural Exceptionalism?

    PubMed

    Shifrer, Dara; Sutton, April

    2014-11-01

    People with internal rather than external locus of control experience better outcomes in multiple domains. Previous studies on spatial differences in control within America only focused on the South, relied on aggregate level data or historical evidence, or did not account for other confounding regional distinctions (such as variation in urbanicity). Using data from the National Education Longitudinal Study, we find differences in adolescents' loci of control depending on their region and urbanicity are largely attributable to differences in their social background, and only minimally to structural differences (i.e., differences in the qualities of adolescents' schools). Differences that persist net of differences across adolescents and their schools suggest the less internal control of rural Southern adolescents, and the more internal control of rural and urban Northeastern adolescents, may be due to cultural distinctions in those areas. Results indicate region is more closely associated than urbanicity with differences in locus of control, with Western and Northeastern cultures seemingly fostering more internal control than Midwestern and Southern cultures. These findings contribute to research on spatial variation in a variety of psychological traits.

  2. Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility.

    PubMed

    Haller, Gabe; Torgerson, Dara G; Ober, Carole; Thompson, Emma E

    2009-12-01

    Common genetic variations in the IL4 gene have been associated with asthma and atopy in European and Asian populations, but not in African Americans. Because populations of African descent have increased levels of genetic variation compared with other populations, particularly with respect to low frequency or rare variants, we hypothesized that rare variants in the IL4 gene contribute to the development of asthma in African Americans. To test this hypothesis, we sequenced the IL4 locus in 72 African Americans with asthma and 70 African American controls without asthma to identify novel and rare polymorphisms in the IL4 gene that may be contributing to asthma susceptibility. We report an excess of private noncoding single nucleotide polymorphisms (SNPs) in the subjects with asthma compared with control subjects without asthma (P = .031). Tajima's D is significantly more negative in subjects with asthma (-0.375) than controls (-0.073; P = .04), reflecting an excess of rare variants in the subjects with asthma. Our findings indicate that SNPs at the IL4 locus that are potentially exclusive to African Americans are associated with susceptibility to asthma. Only 3 of the 26 private SNPs (ie, SNPs present only in the subjects with asthma or only in the controls) are tagged by single SNPs on one of the common genotyping platforms used in genome-wide association studies. We also find that most of the private SNPs cannot be reliably imputed, highlighting the importance of sequencing to identify genetic variants contributing to common diseases in African Americans.

  3. The SDSS-2MASS-WISE 10-dimensional stellar colour locus

    NASA Astrophysics Data System (ADS)

    Davenport, James R. A.; Ivezić, Željko; Becker, Andrew C.; Ruan, John J.; Hunt-Walker, Nicholas M.; Covey, Kevin R.; Lewis, Alexia R.; AlSayyad, Yusra; Anderson, Lauren M.

    2014-06-01

    We present the fiducial main-sequence stellar locus traced by 10 photometric colours observed by Sloan Digital Sky Survey (SDSS), Two Micron All Sky Survey (2MASS), and Wide-field Infrared Survey Explorer (WISE). Median colours are determined using 1052 793 stars with r-band extinction less than 0.125. We use this locus to measure the dust extinction curve relative to the r band, which is consistent with previous measurements in the SDSS and 2MASS bands. The WISE band extinction coefficients are larger than predicted by standard extinction models. Using 13 lines of sight, we find variations in the extinction curve in H, Ks, and WISE bandpasses. Relative extinction decreases towards Galactic anticentre, in agreement with prior studies. Relative extinction increases with Galactic latitude, in contrast to previous observations. This indicates a universal mid-IR extinction law does not exist due to variations in dust grain size and chemistry with Galactocentric position. A preliminary search for outliers due to warm circumstellar dust is also presented, using stars with high signal-to-noise ratio in the W3 band. We find 199 such outliers, identified by excess emission in Ks - W3. Inspection of SDSS images for these outliers reveals a large number of contaminants due to nearby galaxies. Six sources appear to be genuine dust candidates, yielding a fraction of systems with infrared excess of 0.12 ± 0.05 per cent.

  4. Influence of excitatory amino acids on basal and sensory stimuli-induced release of 5-HT in the locus coeruleus

    PubMed Central

    Singewald, Nicolas; Kaehler, Stefan T; Hemeida, Ramadan; Philippu, Athineos

    1998-01-01

    The interactions between 5-hydroxytryptaminergic neurones and excitatory amino acid utilizing neurones were studied in the locus coeruleus of conscious, freely moving rats. The locus coeruleus was superfused with artificial cerebrospinal fluid through a push-pull cannula and 5-hydroxytryptamine (5-HT) was determined in the superfusate that was continuously collected in time periods of 10 min. Superfusion of the locus coeruleus with the NMDA receptor antagonist AP5 (10 μM), kynurenic acid (1 mM), or the AMPA/kainate receptor antagonist DNQX (10 μM) reduced the 5-HT release in the locus coeruleus. Superfusion with the agonists NMDA (50 μM), kainic acid (50 μM) or AMPA (10 μM) enhanced the release rate of 5-HT. AP5 (10 μM) blocked the stimulant effect of NMDA, while tetrodotoxin (1 μM) failed to influence the NMDA-induced release of 5-HT. In the presence of 10 μM DNQX, the releasing effect of 50 μM kainic acid was abolished. Pain elicited by tail pinch, as well as noise-induced stress, increased the release of 5-HT. Superfusion of the locus coeruleus with 10 μM AP5 reduced the tail pinch-induced 5-HT release. AP5 (10 μM) did not affect the noise-induced release of 5-HT which was reduced, when the locus coeruleus was superfused simultaneously with this concentration of AP5 and 1 μM kynurenic acid. DNQX (10 mM) failed to influence the release of 5-HT induced by tail pinch or noise. The findings suggest that 5-hydroxytryptaminergic neurones of the locus coeruleus are tonically modulated by excitatory amino acids via NMDA and AMPA/kainate receptors. The release of 5-HT elicited by tail pinch and noise is mediated to a considerable extent through endogenous excitatory amino acids acting on NMDA receptors, while AMPA/kainate receptors are not involved in this process. PMID:9517395

  5. Molecular genetic analysis of the Phaseolus vulgaris P locus

    USDA-ARS?s Scientific Manuscript database

    Common bean market classes are distinguished by their many seed colors, patterns, and size. At least 23 genes, acting independently or in an epistatic manner, affect the seed coat color and pattern. The P locus which is described as the “ground factor” by Emerson, has multiple alleles and controls a...

  6. Parenting style, locus of control, and oral hygiene in adolescents.

    PubMed

    Aleksejūnienė, Jolanta; Brukienė, Vilma

    2012-01-01

    The aim of the study was to test if variations in oral hygiene levels in adolescents were associated with locus of control and parenting styles after controlling for demographic factors. The study sample comprised 237 adolescents aged 12-13 years. The structured questionnaire included demographic characteristics and items about parenting style and locus of control. The Individual Quantitative Plaque % Index (IQPI) and toothbrushing frequency were used as clinical outcome measures. In the bivariate analyses, socioeconomic status (P=0.012), number of children in the family (P=0.003), and frequency of toothbrushing (P=0.001) were related to dental plaque levels. Gender (P<0.001), socioeconomic status (P=0.022), and external locus of control (Spearman rho, -0.144, P=0.027) were statistically significantly associated with toothbrushing frequency. In the multivariate analyses, only socioeconomic status and toothbrushing frequency were statistically significantly related to the IQPI. When toothbrushing frequency as the second outcome variable was used, the IQPI and gender were statistically significant. The association with socioeconomic status did not reach statistical significance (P=0.07). Only socioeconomic status and toothbrushing frequency explained variation in dental plaque levels among adolescents. The expected relationship among parenting styles, locus of control, and oral hygiene levels was not confirmed.

  7. Fetal Health Locus of Control Scale: Development and Validation.

    ERIC Educational Resources Information Center

    Labs, Sharon M.; Wurtele, Sandy K.

    1986-01-01

    Describes development of the Fetal Health Locus of Control scale, the scale's utility in predicting maternal health-related behavior during pregnancy, normative data, and information on factor structure and internal consistency. Reports that cigarette and caffeine consumption during pregnancy, and women's intentions to participate in prepared…

  8. Attitudes toward Nutrition, Locus of Control and Smoking Behavior.

    ERIC Educational Resources Information Center

    Corfield, V. Kilian; And Others

    Research has shown that many behaviors previously thought to be purely psychological in origin do, in fact, have a physiological basis. To examine the relationship of smoking behavior to locus of control, and to attitudes toward, knowledge about, and behavior with respect to nutrition, 116 Canadian undergraduate students completed the Nutrition…

  9. Locus of Control Correlates in an Alcoholic Population

    ERIC Educational Resources Information Center

    Nowicki, Stephen, Jr.; Hopper, Allen E.

    1974-01-01

    Assesses the locus of control orientation within an alcoholic population and relates this orientation to the degree of cognitive dysfunction. Results suggest that female alcoholics, specifically those who need inpatient treatment, may be a relatively more disturbed group compared to alcoholic male inpatients. (Author/PC)

  10. Comparison of Locus of Control with Levels of Creativity.

    ERIC Educational Resources Information Center

    Kneipp, Karen B.; Gadzella, Bernadette M.

    This study was undertaken to determine whether external locus of control orientation was significantly negatively correlated with levels of creativity. Subjects were 13 male and 13 female undergraduate students enrolled in psychology classes at a southwestern university. Mean age of the subjects was 28.6. Instruments used were Levenson's (1972) I…

  11. Motive to Avoid Success, Locus of Control, and Reinforcement Avoidance.

    ERIC Educational Resources Information Center

    Katovsky, Walter

    Subjects were four groups of 12 college women, high or low in motive to avoid success (MAS) and locus of control (LC), were reinforced for response A on a fixed partial reinforcement schedule on three concept learning tasks, one task consisting of combined reward and punishment, another of reward only, and one of punishment only. Response B was…

  12. Fetal Health Locus of Control Scale: Development and Validation.

    ERIC Educational Resources Information Center

    Labs, Sharon M.; Wurtele, Sandy K.

    1986-01-01

    Describes development of the Fetal Health Locus of Control scale, the scale's utility in predicting maternal health-related behavior during pregnancy, normative data, and information on factor structure and internal consistency. Reports that cigarette and caffeine consumption during pregnancy, and women's intentions to participate in prepared…

  13. Attitudes toward Nutrition, Locus of Control and Smoking Behavior.

    ERIC Educational Resources Information Center

    Corfield, V. Kilian; And Others

    Research has shown that many behaviors previously thought to be purely psychological in origin do, in fact, have a physiological basis. To examine the relationship of smoking behavior to locus of control, and to attitudes toward, knowledge about, and behavior with respect to nutrition, 116 Canadian undergraduate students completed the Nutrition…

  14. Dealing with Malfunction: Locus of Control in Web-Conferencing

    ERIC Educational Resources Information Center

    Klebl, Michael

    2014-01-01

    This paper considers how students deal with malfunctions that occur during the use of web conferencing systems in learning arrangements. In a survey among participants in online courses that make use of a web-conferencing system (N = 129), the relationship between a preference for internal or external locus of control and the perception of…

  15. Locus of Responsibility as an Aid to Training.

    ERIC Educational Resources Information Center

    Mattran, Kenneth J.

    1984-01-01

    Human resource development specialists have employed analytical devices to assist them in identifying the trainees' personal, occupational, and professional characteristics. A new instrument called the Locus of Responsibility Inventory assumes that leadership is an unconscious choice that the individuals make as a result of their perception of how…

  16. The Locus of the Focus of a Rolling Parabola

    ERIC Educational Resources Information Center

    Agarwal, Anurag; Marengo, James

    2010-01-01

    The catenary is usually introduced as the shape assumed by a hanging flexible cable. This is a "physical" description of a catenary. In this article we give a "geometrical" description of a catenary. Specifically we show that the catenary is the locus of the focus of a certain parabola as it rolls on the x-axis.

  17. 40 CFR 798.5200 - Mouse visible specific locus test.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... of data for exposed spermatagonial stem cells thereafter. Repeated mating cycles should be conducted... visible characteristics of certain mouse strains. (2) The germ line is the cells in the gonads of higher... mouse germ cells: (A) The visible specific locus test using either 5 or 7 loci. (B) The...

  18. 40 CFR 798.5200 - Mouse visible specific locus test.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... of data for exposed spermatagonial stem cells thereafter. Repeated mating cycles should be conducted... visible characteristics of certain mouse strains. (2) The germ line is the cells in the gonads of higher... mouse germ cells: (A) The visible specific locus test using either 5 or 7 loci. (B) The...

  19. 40 CFR 798.5200 - Mouse visible specific locus test.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... of data for exposed spermatagonial stem cells thereafter. Repeated mating cycles should be conducted... visible characteristics of certain mouse strains. (2) The germ line is the cells in the gonads of higher... mouse germ cells: (A) The visible specific locus test using either 5 or 7 loci. (B) The...

  20. Marathon Group: Changes in Perceived Locus of Control

    ERIC Educational Resources Information Center

    Foulds, Melvin L.; And Others

    1974-01-01

    Fifteen college students participated in a 24-hour marathon group and responded to the Internal-External Scale immediately before and after the experience. The results disclosed significant positive change at the .001 level in perceived locus of internal-external control of reinforcement expectancies in the direction of increased internality.…

  1. Confirmatory Factor Analysis of the Cancer Locus of Control Scale.

    ERIC Educational Resources Information Center

    Henderson, Jessica W.; Donatelle, Rebecca J.; Acock, Alan C.

    2002-01-01

    Conducted a confirmatory factor analysis of the Cancer Locus of Control scale (M. Watson and others, 1990), administered to 543 women with a history of breast cancer. Results support a three-factor model of the scale and support use of the scale to assess control dimensions. (SLD)

  2. Relationship between Locus of Control and Health-Related Variables

    ERIC Educational Resources Information Center

    Graffeo, Lisa Cotlar; Silvestri, Lynette

    2006-01-01

    Locus of Control (LOC) deals with an individual's personal attribution of successful or failure. Those with internal LOC believe that events in their lives are under their personal control while individuals with external LOC feel that their lives are dominated by the environment. The theory has been applied to achievement and health-related issues…

  3. Molecular Epidemiology of sil Locus in Clinical Streptococcus pyogenes Strains

    PubMed Central

    Plainvert, Céline; Dinis, Márcia; Ravins, Miriam; Hanski, Emanuel; Touak, Gérald; Dmytruk, Nicolas; Fouet, Agnès

    2014-01-01

    Streptococcus pyogenes (group A Streptococcus [GAS]) causes a wide variety of diseases, ranging from mild noninvasive to severe invasive infections. Mutations in regulatory components have been implicated in the switch from colonization to invasive phenotypes. The inactivation of the sil locus, composed of six genes encoding a quorum-sensing complex, gives rise to a highly invasive strain. However, studies conducted on limited collections of GAS strains suggested that sil prevalence is around 15%; furthermore, whereas a correlation between the presence of sil and the genetic background was suggested, no link between the presence of a functional sil locus and the invasive status was assessed. We established a collection of 637 nonredundant strains covering all emm genotypes present in France and of known clinical history; 68%, 22%, and 10% were from invasive infections, noninvasive infections, and asymptomatic carriage, respectively. Among the 637 strains, 206 were sil positive. The prevalence of the sil locus varied according to the emm genotype, being present in >85% of the emm4, emm18, emm32, emm60, emm87, and emm90 strains and absent from all emm1, emm28, and emm89 strains. A random selection based on 2009 French epidemiological data indicated that 16% of GAS strains are sil positive. Moreover, due to mutations leading to truncated proteins, only 9% of GAS strains harbor a predicted functional sil system. No correlation was observed between the presence or absence of a functional sil locus and the strain invasiveness status. PMID:24671796

  4. Relationships Among Locus of Control, Grades, and Student Ratings.

    ERIC Educational Resources Information Center

    Owen, Steven V.; Froman, Robin D.

    This research examines the interaction between college students' control orientation and a discrepancy score of GPA minus expected grade in course, on the dependent measure of 13 student rating items. It was hypothesized that students with an external locus of control who also showed a discrepancy between expected and actual grades would distort…

  5. Marathon Group: Changes in Perceived Locus of Control

    ERIC Educational Resources Information Center

    Foulds, Melvin L.; And Others

    1974-01-01

    Fifteen college students participated in a 24-hour marathon group and responded to the Internal-External Scale immediately before and after the experience. The results disclosed significant positive change at the .001 level in perceived locus of internal-external control of reinforcement expectancies in the direction of increased internality.…

  6. Locus of Control and Completion in an Adult Retraining Program.

    ERIC Educational Resources Information Center

    Taylor, Maurice C.

    Since attrition is often a problem in adult training programs, a study was conducted to investigate the relationship between locus of control and course completion of adults enrolled in a retraining program. Rotter's Social Learning Theory of Personality was used as a starting point for the study. The study population was a sample of 108…

  7. Exploring Learner Autonomy: Language Learning Locus of Control in Multilinguals

    ERIC Educational Resources Information Center

    Peek, Ron

    2016-01-01

    By using data from an online language learning beliefs survey (n?=?841), defining language learning experience in terms of participants' multilingualism, and using a domain-specific language learning locus of control (LLLOC) instrument, this article examines whether more experienced language learners can also be seen as more autonomous language…

  8. Reminiscences of a mouse specific-locus test addict.

    PubMed

    Russell, W L

    1989-01-01

    This paper describes some of the historical events surrounding the development of and achievements with the mouse specific-locus test in radiation and chemical mutagenesis. Some ongoing and future contributions of the test to research in molecular genetics are also mentioned.

  9. Locus of Control and Likelihood of Nuclear War: Two Studies.

    ERIC Educational Resources Information Center

    Erdahl, Paul; Rounds, James B.

    The Nuclear Locus of Control (NLOC) scales were constructed to assess beliefs as to whether nuclear war and nuclear policy decisions are, or can be, influenced by oneself, powerful others, or chance. Three scales measuring internal, powerful others, and chance nuclear LOC show internal consistency estimates (Cronbach's Alpha) of .87, .76, and .85,…

  10. Relationships among Impulsiveness, Locus of Control, Sex, and Music Practice

    ERIC Educational Resources Information Center

    Miksza, Peter

    2006-01-01

    This study is an investigation of relationships among impulsiveness, locus of control, sex, observed practice behaviors, practice effectiveness, and self-reported practice habits in a sample of 40 college brass players. Practice effectiveness was defined by the amount of change in pretest and posttest performance achievement scores over one…

  11. Biallelic Germline Transcription at the κ Immunoglobulin Locus

    PubMed Central

    Singh, Nandita; Bergman, Yehudit; Cedar, Howard; Chess, Andrew

    2003-01-01

    Rearrangement of antigen receptor genes generates a vast array of antigen receptors on lymphocytes. The establishment of allelic exclusion in immunoglobulin genes requires differential treatment of the two sequence identical alleles. In the case of the κ immunoglobulin locus, changes in chromatin structure, methylation, and replication timing of the two alleles are all potentially involved in regulating rearrangement. Additionally, germline transcription of the κ locus which precedes rearrangement has been proposed to reflect an opening of the chromatin structure rendering it available for rearrangement. As the initial restriction of rearrangement to one allele is critical to the establishment of allelic exclusion, a key question is whether or not germline transcription at the κ locus is monoallelic or biallelic. We have used a sensitive reverse transcription-polymerase chain reaction (RT-PCR) assay and an RNA–fluorescence in situ hybridization (FISH) to show that germline transcription of the κ locus is biallelic in wild-type immature B cells and in recombination activating gene (RAG)−/−, μ+ B cells. Therefore, germline transcription is unlikely to dictate which allele will be rearranged first and rather reflects a general opening on both alleles that must be accompanied by a mechanism allowing one of the two alleles to be rearranged first. PMID:12629064

  12. The Locus of the Focus of a Rolling Parabola

    ERIC Educational Resources Information Center

    Agarwal, Anurag; Marengo, James

    2010-01-01

    The catenary is usually introduced as the shape assumed by a hanging flexible cable. This is a "physical" description of a catenary. In this article we give a "geometrical" description of a catenary. Specifically we show that the catenary is the locus of the focus of a certain parabola as it rolls on the x-axis.

  13. Validation of a Five-Level Locus of Control Scale.

    ERIC Educational Resources Information Center

    Fournier, Genevieve; Jeanrie, Chantale

    1999-01-01

    Interviews with 1,011 students and employed adults explored seven work-related themes: decision making, self-knowledge, meaning of work, career planning, social/work environment, educational institutions, and job market. Results supported the validity of the Vocational Locus of Control Scale. (SK)

  14. Locus of control as predictive of goal-directed behavior.

    PubMed

    Collins, H A; Taylor, G A; Burger, G K

    1976-04-01

    EEO Upward Mobility Program participants were compared with three different control groups along I-E locus of control dimensions. With this instrument and these Ss, no significant differences were found when participation in the program was used as an indicator of goal-directed behavior.

  15. Should Farmers' Locus of Control Be Used in Extension?

    ERIC Educational Resources Information Center

    Nuthall, Peter L.

    2010-01-01

    To explore whether Farmers' Locus of Control (LOC) could be useful in agricultural extension programmes to improve managerial ability. This test records a farmer's belief in her/his control over production outcomes. A mail survey of 2300 New Zealand farmers was used to obtain a range of variables, and to measure their LOC using a question set…

  16. Modification of Locus of Control among Rehabilitation Counseling Graduate Students.

    ERIC Educational Resources Information Center

    Pinkard, Calvin M.; Gross, Pincus

    1984-01-01

    Investigated changes in locus of control orientation during graduate education in rehabilitation counseling by comparing students (N=20) who received experiential training with controls who received didactic training. Results indicated movement toward internality was determined by the types of instruction and the level of the initial external…

  17. Exploring Learner Autonomy: Language Learning Locus of Control in Multilinguals

    ERIC Educational Resources Information Center

    Peek, Ron

    2016-01-01

    By using data from an online language learning beliefs survey (n?=?841), defining language learning experience in terms of participants' multilingualism, and using a domain-specific language learning locus of control (LLLOC) instrument, this article examines whether more experienced language learners can also be seen as more autonomous language…

  18. Inferring relationships between pairs of individuals from locus heterozygosities

    PubMed Central

    Presciuttini, Silvano; Toni, Chiara; Tempestini, Elena; Verdiani, Simonetta; Casarino, Lucia; Spinetti, Isabella; Stefano, Francesco De; Domenici, Ranieri; Bailey-Wilson, Joan E

    2002-01-01

    Background The traditional exact method for inferring relationships between individuals from genetic data is not easily applicable in all situations that may be encountered in several fields of applied genetics. This study describes an approach that gives affordable results and is easily applicable; it is based on the probabilities that two individuals share 0, 1 or both alleles at a locus identical by state. Results We show that these probabilities (zi) depend on locus heterozygosity (H), and are scarcely affected by variation of the distribution of allele frequencies. This allows us to obtain empirical curves relating zi's to H for a series of common relationships, so that the likelihood ratio of a pair of relationships between any two individuals, given their genotypes at a locus, is a function of a single parameter, H. Application to large samples of mother-child and full-sib pairs shows that the statistical power of this method to infer the correct relationship is not much lower than the exact method. Analysis of a large database of STR data proves that locus heterozygosity does not vary significantly among Caucasian populations, apart from special cases, so that the likelihood ratio of the more common relationships between pairs of individuals may be obtained by looking at tabulated zi values. Conclusions A simple method is provided, which may be used by any scientist with the help of a calculator or a spreadsheet to compute the likelihood ratios of common alternative relationships between pairs of individuals. PMID:12441003

  19. 40 CFR 798.5200 - Mouse visible specific locus test.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... visible characteristics of certain mouse strains. (2) The germ line is the cells in the gonads of higher... mouse germ cells: (A) The visible specific locus test using either 5 or 7 loci. (B) The biochemical.... Offspring are examined in the next generation for evidence that a new mutation has arisen. (3) Animal...

  20. 40 CFR 798.5200 - Mouse visible specific locus test.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... visible characteristics of certain mouse strains. (2) The germ line is the cells in the gonads of higher... mouse germ cells: (A) The visible specific locus test using either 5 or 7 loci. (B) The biochemical.... Offspring are examined in the next generation for evidence that a new mutation has arisen. (3) Animal...

  1. [Drug compliance and health locus of control in schizophrenia].

    PubMed

    Combes, C; Feral, F

    2011-05-01

    Schizophrenia is a frequent disorder since it affects about 1% of the general population. Drug compliance, that is to say patients' adherence to their treatment, remains rather poor concerning this disease with, on an average, one patient out of two not complying with his/her medication. Among the factors influencing drug compliance, we focused on patients' beliefs in terms of health control, a concept known as health locus of control. This is a concept that originated from social psychology and derived from the Rotters' original concept of locus of control: it corresponds to the type of connexion established by an individual between subsequent events in the history of his/her disease and internal (personal abilities) or external factors (chance, powerful others). Nowadays, the tridimensional structure of this concept is commonly admitted as being in three dimensions: internality, chance externality and powerful others externality, the latter group being divided between doctors and others. We have assumed that there is a correlation between the degree of drug compliance and the internal and/or doctors' external health locus of control. For this purpose, we have determined the quality of drug compliance by using the Medical Adherence Rating Scale (MARS) and the type of health locus of control by using the Multidimensional Health Locus of Control (MHLC) scale among 65 schizophrenic patients. We have also considered it was important to evaluate patients' insight by using the Amador's scale (Scale of Unawareness of Mental Disorder) because many researchers have established a strong correlation between insight and drug compliance in schizophrenia. Associations between the four dimensions of health locus of control ("internal", "chance external", "others external" and "doctors' external") and drug compliance were assessed by estimating Spearman's rank correlation coefficient (r) and its degree of significance (p). These associations were judged significant at an alpha

  2. The Role of Locus of Control of Reinforcement in Interpersonal Attraction

    ERIC Educational Resources Information Center

    Nowicki, Stephen, Jr.; Blumberg, Neil

    1975-01-01

    The purpose of the present study was to relate subjects' locus of control orientation to the degree of initial interpersonal attraction expressed toward a stranger who differed from the subjects only in degree of expressed locus of control orientation. (Author)

  3. Coordinated forms of noradrenergic plasticity in the locus coeruleus and primary auditory cortex

    PubMed Central

    Martins, Ana Raquel O.; Froemke, Robert C.

    2015-01-01

    The cerebral cortex is plastic and represents the world according to the significance of sensory stimuli. However, cortical networks are embodied within complex circuits including neuromodulatory systems such as the noradrenergic locus coeruleus, providing information about internal state and behavioral relevance. While norepinephrine is important for cortical plasticity, it is unknown how modulatory neurons themselves respond to changes of sensory input. Here we examine how locus coeruleus neurons are modified by experience, and the consequences of locus coeruleus plasticity on cortical representations and sensory perception. We made whole-cell recordings from rat locus coeruleus and primary auditory cortex (AI), pairing sounds with locus coeruleus activation. Although initially unresponsive, locus coeruleus neurons developed and maintained auditory responses afterwards. Locus coeruleus plasticity induced changes in AI responses lasting at least hours and improved auditory perception for days to weeks. Our results demonstrate that locus coeruleus is highly plastic, leading to substantial changes in regulation of brain state by norepinephrine. PMID:26301326

  4. Receptor protein kinase gene encoded at the self-incompatibility locus

    DOEpatents

    Nasrallah, June B.; Nasrallah, Mikhail E.; Stein, Joshua

    1996-01-01

    Described herein is a S receptor kinase gene (SRK), derived from the S locus in Brassica oleracea, having a extracellular domain highly similar to the secreted product of the S-locus glycoprotein gene.

  5. Age-Related Differences in Locus of Control Orientation in Three Behavior Domains

    ERIC Educational Resources Information Center

    Bradley, Robert H.; Webb, Roger

    1976-01-01

    Age correlated differences in locus of control orientation were examined for 306 persons aged 13 to 90 in three areas of activity: intellectual, social and physical. The Locus of Control Inventory for Three Achievement Domains was administered. (MS)

  6. Homozygosity mapping of the Werner syndrome locus (WRN)

    SciTech Connect

    Nakura, J.; Miki, T.; Kamino, K.

    1994-10-01

    Werner syndrome (WS) is an autosomal recessive disorder characterized by the early onset of several age-related diseases. The locus for this disease was recently mapped to 8p12. We studied 27 WS kindreds of mixed ethnic origins, 26 of which were consanguineous. In 24 of these families, the affected subject was given the diagnosis of {open_quotes}definite{close_quotes} WS and affected subjects in the remaining 3 pedigrees were given the diagnosis of {open_quotes}probable{close_quotes} WS. Affected subjects from each kindred were genotyped for 13 short tandem repeat polymorphic sites. Two-point linkage analysis yielded significant evidence for linkage to D8S137, D8S339, D8S87, PLAT, D8S165, and D8S166. The locus yielding a maximum lod score at the smallest recombination fraction was D8S339, suggesting that this marker is the closest to the WS gene (WRN locus) of those tested. D8S339 gave significant lod scores (Z{sub max}{>=}3.0) for both Japanese and non-Japanese (mostly Caucasian) families, demonstrating that a single locus is responsible for WS in both groups. Multipoint analysis of these markers yielded a maximum lod score of 17.05 at a distance of approximately 0.6 cM from D8S339. The combined evidence from 2-point analysis, multipoint analysis, and analysis of regions of homozygosity in subjects from inbred pedigrees indicates that the WRN locus is between D8S131 and D8S87, in an 8.3-cM interval containing D8S339. 32 refs., 1 fig., 5 tabs.

  7. Effect of a Summer Enrichment Program for At-Risk Youths on Locus of Control and the Relation to Motivational Orientation.

    ERIC Educational Resources Information Center

    Ayersman, David J.

    Children presently in school face a multitude of problems new and unique to their age group. To combat these problems educators must find new solutions and search out ways of reaching young people before it is too late for them to respond. By examining locus of control, and showing an effective treatment program for transitioning from externality…

  8. Homozygosity Mapping Identifies an Additional Locus for Wolfram Syndrome on Chromosome 4q

    PubMed Central

    El-Shanti, Hatem; Lidral, Andrew C.; Jarrah, Nadim; Druhan, Lawrence; Ajlouni, Kamel

    2000-01-01

    Wolfram syndrome, which is sometimes referred to as “DIDMOAD” (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an autosomal recessive neurodegenerative disorder for which only insulin-dependent diabetes mellitus and optic atrophy are necessary to make the diagnosis. Researchers have mapped Wolfram syndrome to chromosome 4p16.1, and, recently, a gene encoding a putative transmembrane protein has been cloned and mutations have been identified in patients. To pursue the possibility of locus heterogeneity, 16 patients from four different families were recruited. These patients, who have the Wolfram syndrome phenotype, also have additional features that have not previously been reported. There is an absence of diabetes insipidus in all affected family members. In addition, several patients have profound upper gastrointestinal ulceration and bleeding. With the use of three microsatellite markers (D4S432, D4S3023, and D4S2366) reported to be linked to the chromosome 4p16.1 locus, we significantly excluded linkage in three of the four families. The two affected individuals in one family showed homozygosity for all three markers from the region of linkage on chromosome 4p16.1. For the other three families, genetic heterogeneity for Wolfram syndrome was verified by demonstration of linkage to chromosome 4q22-24. In conclusion, we report the unique clinical findings and linkage-analysis results of 16 patients with Wolfram syndrome and provide further evidence for the genetic heterogeneity of this disorder. We also provide data on a new locus that plays a role in the etiology of insulin-dependent diabetes mellitus. PMID:10739754

  9. Detection of the signature of natural selection in humans: evidence from the Duffy blood group locus.

    PubMed Central

    Hamblin, M T; Di Rienzo, A

    2000-01-01

    The Duffy blood group locus, which encodes a chemokine receptor, is characterized by three alleles-FY*A, FY*B, and FY*O. The frequency of the FY*O allele, which corresponds to the absence of Fy antigen on red blood cells, is at or near fixation in most sub-Saharan African populations but is very rare outside Africa. The FST value for the FY*O allele is the highest observed for any allele in humans, providing strong evidence for the action of natural selection at this locus. Homozygosity for the FY*O allele confers complete resistance to vivax malaria, suggesting that this allele has been the target of selection by Plasmodium vivax or some other infectious agent. To characterize the signature of directional selection at this locus, we surveyed DNA sequence variation, both in a 1.9-kb region centered on the FY*O mutation site and in a 1-kb region 5-6 kb away from it, in 17 Italians and in a total of 24 individuals from five sub-Saharan African populations. The level of variation across both regions is two- to threefold lower in the Africans than in the Italians. As a result, the pooled African sample shows a significant departure from the neutral expectation for the number of segregating sites, whereas the Italian sample does not. The FY*O allele occurs on two major haplotypes in three of the five African populations. This finding could be due to recombination, recurrent mutation, population structure, and/or mutation accumulation and drift. Although we are unable to distinguish among these alternative hypotheses, it is likely that the two major haplotypes originated prior to selection on the FY*O mutation. PMID:10762551

  10. The TNFα locus is Altered in Monocytes from Patients with Systemic Lupus Erythematosus

    PubMed Central

    Sullivan, Kathleen E.; Suriano, April; Dietzmann, Kelly; Lin, Janice; Goldman, Daniel; Petri, Michelle A.

    2007-01-01

    In systemic lupus erythematosus, TNFα is elevated in the serum and correlates with disease activity and triglyceride levels. The stimuli that drive TNFα in this setting are incompletely understood. This study was designed to evaluate monocyte chromatin at the TNFα locus to identify semi-permanent changes that might play a role in altered expression of TNFα. SLE patients with relatively quiescent disease (mean Physician Global Assessment=0.6) and healthy controls were recruited for this study. TNFα expression was measured by intracellular cytokine staining of different monocyte subsets in patients (n=24) and controls (n=12). Histone acetylation at the TNFα locus was measured by chromatin immunoprecipitation using a normalized quantitative PCR in patients (n=46) and controls (n=24). There were no differences in the overall fractions of cells expressing CD14 in SLE patients compared to controls, however, the fraction of DR+/CD16+ cells expressing CD14 was slightly higher as was true in the monocyte subset defined by DR+/CD11b+. Within the monocyte population defined by physical characteristics and DR+/CD14+, TNFα expressing cells were more frequent in SLE patients compared to controls. Both the fraction of positive cells and the mean fluorescence intensity were higher in patients than controls. Consistent with this was the finding that monocytes from patients had increased TNFα transcripts and more highly acetylated histones at the TNFα locus compared to controls. Furthermore, patients with the highest levels of TNFα histone acetylation were more likely to have had consistently elevated erythrocyte sedimentation rates, and to have required cytotoxic use. Histone acetylation, associated with increased transcriptional competence of TNFα, may play a role in certain inflammatory aspects of the disease. PMID:17276734

  11. Allele-specific locus binding and genome editing by CRISPR at the p16INK4a locus

    PubMed Central

    Fujita, Toshitsugu; Yuno, Miyuki; Fujii, Hodaka

    2016-01-01

    The clustered regularly interspaced short palindromic repeats (CRISPR) system has been adopted for a wide range of biological applications including genome editing. In some cases, dissection of genome functions requires allele-specific genome editing, but the use of CRISPR for this purpose has not been studied in detail. In this study, using the p16INK4a gene in HCT116 as a model locus, we investigated whether chromatin states, such as CpG methylation, or a single-nucleotide gap form in a target site can be exploited for allele-specific locus binding and genome editing by CRISPR in vivo. First, we showed that allele-specific locus binding and genome editing could be achieved by targeting allele-specific CpG-methylated regions, which was successful for one, but not all guide RNAs. In this regard, molecular basis underlying the success remains elusive at this stage. Next, we demonstrated that an allele-specific single-nucleotide gap form could be employed for allele-specific locus binding and genome editing by CRISPR, although it was important to avoid CRISPR tolerance of a single nucleotide mismatch brought about by mismatched base skipping. Our results provide information that might be useful for applications of CRISPR in studies of allele-specific functions in the genomes. PMID:27465215

  12. Allele-specific locus binding and genome editing by CRISPR at the p16INK4a locus.

    PubMed

    Fujita, Toshitsugu; Yuno, Miyuki; Fujii, Hodaka

    2016-07-28

    The clustered regularly interspaced short palindromic repeats (CRISPR) system has been adopted for a wide range of biological applications including genome editing. In some cases, dissection of genome functions requires allele-specific genome editing, but the use of CRISPR for this purpose has not been studied in detail. In this study, using the p16INK4a gene in HCT116 as a model locus, we investigated whether chromatin states, such as CpG methylation, or a single-nucleotide gap form in a target site can be exploited for allele-specific locus binding and genome editing by CRISPR in vivo. First, we showed that allele-specific locus binding and genome editing could be achieved by targeting allele-specific CpG-methylated regions, which was successful for one, but not all guide RNAs. In this regard, molecular basis underlying the success remains elusive at this stage. Next, we demonstrated that an allele-specific single-nucleotide gap form could be employed for allele-specific locus binding and genome editing by CRISPR, although it was important to avoid CRISPR tolerance of a single nucleotide mismatch brought about by mismatched base skipping. Our results provide information that might be useful for applications of CRISPR in studies of allele-specific functions in the genomes.

  13. Rasch Analysis of the Locus-of-Hope Scale. Brief Report

    ERIC Educational Resources Information Center

    Gadiana, Leny G.; David, Adonis P.

    2015-01-01

    The Locus-of-Hope Scale (LHS) was developed as a measure of the locus-of-hope dimensions (Bernardo, 2010). The present study adds to the emerging literature on locus-of-hope by assessing the psychometric properties of the LHS using Rasch analysis. The results from the Rasch analyses of the four subscales of LHS provided evidence on the…

  14. On the Relation of Locus of Control and L2 Reading and Writing Achievement

    ERIC Educational Resources Information Center

    Ghonsooly, Behzad; Shirvan, Majid Elahi

    2011-01-01

    Locus of control, a psychological construct, has been the focus of attention in recent decades. Psychologists have discussed the effect of locus of control on achieving life goals in social/psychological interactions. While learning a foreign language involves both social interactions and psychological processes, the role and relation of locus of…

  15. On the Locus Formed by the Maximum Heights of Projectile Motion with Air Resistance

    ERIC Educational Resources Information Center

    Hernandez-Saldana, H.

    2010-01-01

    We present an analysis on the locus formed by the set of maxima of the trajectories of a projectile launched in a medium with linear drag. Such a place, the locus of apexes, is written in terms of the Lambert "W" function in polar coordinates, confirming the special role played by this function in the problem. To characterize the locus, a study of…

  16. Locus of Control in Offenders and Alleged Offenders with Learning Disabilities

    ERIC Educational Resources Information Center

    Goodman, Wendy; Leggett, Janice; Garrett, Tanya

    2007-01-01

    Locus of control can be a useful measure of treatment outcome in offenders from the general population. However, there is little information regarding locus of control and offenders with learning disabilities. Existing measures of locus of control use complex language and abstract ideas that may not be accessible to individuals in this group. A…

  17. Reframing Student Affairs Leadership: An Analysis of Organizational Frames of Reference and Locus of Control

    ERIC Educational Resources Information Center

    Tull, Ashley; Freeman, Jerrid P.

    2011-01-01

    Examined in this study were the identified frames of reference and locus of control used by 478 student affairs administrators. Administrator responses were examined to identify frames of reference most commonly used and their preference order. Locus of control most commonly used and the relationship between frames of reference and locus of…

  18. On the Locus Formed by the Maximum Heights of Projectile Motion with Air Resistance

    ERIC Educational Resources Information Center

    Hernandez-Saldana, H.

    2010-01-01

    We present an analysis on the locus formed by the set of maxima of the trajectories of a projectile launched in a medium with linear drag. Such a place, the locus of apexes, is written in terms of the Lambert "W" function in polar coordinates, confirming the special role played by this function in the problem. To characterize the locus, a study of…

  19. Muller's ratchet and the pattern of variation at a neutral locus.

    PubMed Central

    Gordo, Isabel; Navarro, Arcadio; Charlesworth, Brian

    2002-01-01

    The levels and patterns of variation at a neutral locus are analyzed in a haploid asexual population undergoing accumulation of deleterious mutations due to Muller's ratchet. We find that the movement of Muller's ratchet can be associated with a considerable reduction in genetic diversity below classical neutral expectation. The extent to which variability is reduced is a function of the deleterious mutation rate, the fitness effects of the mutations, and the population size. Approximate analytical expressions for the expected genetic diversity are compared with simulation results under two different models of deleterious mutations: a model where all deleterious mutations have equal effects and a model where there are two classes of deleterious mutations. We also find that Muller's ratchet can produce a considerable distortion in the neutral frequency spectrum toward an excess of rare variants. PMID:12072478

  20. Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus.

    PubMed

    Mackelprang, Rachel; Livingston, Robert J; Eberle, Michael A; Carlson, Christopher S; Yi, Qian; Akey, Joshua M; Nickerson, Deborah A

    2006-04-01

    T cell receptors (TR), through their interaction with the major histocompatibility complex, play a central role in immune responsiveness and potentially immune-related disorders. We resequenced all 57 variable (V) genes in the human T cell receptor alpha and delta (TRA/TRD) locus in 40 individuals of Northern European, Mexican, African-American and Chinese descent. Two hundred and eighty-four single nucleotide polymorphisms (SNPs) were identified. The distribution of SNPs between V genes was heterogeneous, with an average of five SNPs per gene and a range of zero to 15. We describe the patterns of linkage disequilibrium for these newly discovered SNPs and compare these patterns with other emerging large-scale datasets (e.g. Perlegen and HapMap projects) to place our findings into a framework for future analysis of genotype-phenotype associations across this locus. Furthermore, we explore signatures of natural selection across V genes. We find evidence of strong directional selection at this locus as evidenced by unusually high values of Fst.

  1. Health-related locus of control and health behaviour among university students in North Rhine Westphalia, Germany

    PubMed Central

    2012-01-01

    Background Health control beliefs were postulated to be associated with health behaviour. However, the results of studies assessing these associations suggest that they might not be universal. Among young adults associations have been reported, but the evidence is limited. The objective of this analysis was to re-examine these associations in a sample of university students in Germany. Findings Data from a multicentre cross-sectional study among university students in North Rhine-Westphalia, Germany was used (N=3,306). The Multidimensional Health Locus of Control Scale with three dimensions (one internal and two external) and six aspects of health behaviour (smoking habits, alcohol use, drug consumption, being over-/ or underweight, physical activity, and importance of healthy nutrition) were evaluated. Students with stronger internal locus of control paid more attention to healthy nutrition and displayed a higher level of physical activity. Individuals with a stronger belief in health professionals were less likely to use drugs and paid more attention to healthy nutrition. Furthermore, higher scores in the second external locus of control dimension (beliefs in luck or chance) were associated with a higher likelihood of current smoking, lower physical activity and less attention to healthy nutrition. Conclusions Students engaged more strongly in unhealthy behaviour if they believed that luck determines health. In contrast, believing in having control over one’s own health was associated with more healthy behaviour. These findings support the need to consider health control beliefs while designing preventive strategies in this specific population. PMID:23273039

  2. Maternal Control Behavior and Locus of Control: Examining Mechanisms in the Relation Between Maternal Anxiety Disorders and Anxiety Symptomatology in Children

    PubMed Central

    Ginsburg, Golda S.; Domingues, Janine; Tein, Jenn-Yun

    2012-01-01

    This study tested components of a proposed model of child anxiety and examined the mediational roles of (1) maternal control behavior, (2) maternal external locus of control, and (3) child external locus of control in the association between maternal and child anxiety. Thirty-eight clinically anxious mothers and 37 nonanxious mothers participated along with one of their children aged 6 to 14 (52.0% female; 78.7% Caucasian). Path analysis indicated that the overall model fit the data very well. Analyses also indicated that child external locus of control mediated the associations between (1) maternal and child anxiety and (2) maternal control behavior and child anxiety. Maternal anxiety was not related to maternal control behavior and maternal external locus of control was not associated with child anxiety. Findings are discussed in the context of theoretical models (e.g., Chorpita and Barlow 1998) regarding the transmission of maternal anxiety to their children and the specific roles of maternal behavior and child locus of control. PMID:20108034

  3. Loss of a histidine residue at the active site of S-locus ribonuclease is associated with self-compatibility in Lycopersicon peruvianum.

    PubMed Central

    Royo, J; Kunz, C; Kowyama, Y; Anderson, M; Clarke, A E; Newbigin, E

    1994-01-01

    Gametophytic self-incompatibility in the Solanaceae is controlled by a single, multiallelic locus, the S locus. We have recently described an allele of the S locus of Lycopersicon peruvianum that caused this normally self-incompatible plant to become self-compatible. We have now characterized two glycoproteins present in the styles of self-compatible and self-incompatible accessions of L. peruvianum: one is a ribonuclease that cosegregates with a functional self-incompatibility allele (S6 allele); the other cosegregates with the self-compatible allele (Sc allele) but has no ribonuclease activity. The derived amino acid sequences of the cDNAs encoding the S6 and Sc glycoproteins resemble sequences of other ribonucleases encoded by the S locus. The derived sequence for the Sc glycoprotein differs from the others by lacking one of the histidine residues found in all other S-locus ribonucleases. These findings demonstrate the essential role of ribonuclease activity in self-incompatibility and lend further weight to evidence that this histidine residue is involved in the catalytic site of the enzyme. Images PMID:8022814

  4. The roles of internal locus of control and neighborhood affluence in predicting the continuity of negative self-feelings from adolescence to young adulthood.

    PubMed

    Pals, Heili; Kaplan, Howard B

    2013-10-01

    The present study examines the moderating effect of locus of control on the continuity in negative self-feelings from adolescence to young adulthood. We use longitudinal data of 1296 respondents from adolescence (11-13 years old) to young adulthood (20-24 years old). Using interaction effects in linear regression with robust standard errors we find that those with an internal locus of control experience stronger continuity in negative self-feelings from adolescence to young adulthood. Furthermore, based on both self-reported and objective measures of neighborhood status, internal locus of control increases the continuity in negative self-feelings in the transition to adulthood in disadvantaged neighborhoods but not in advantaged neighborhoods. Thus, locus of control acts as a maladaptive mechanism in less affluent neighborhoods. This result demonstrates the importance of considering both the individual social psychological and the contextual sociological perspectives when investigating the role of internal locus of control on the perpetuation of negative self-feelings.

  5. Work locus of control and its relationship to stress perception, related affections, attitudes and behaviours from a domain-specific perspective.

    PubMed

    Tong, Jiajin; Wang, Lei

    2012-08-01

    This research aims to examine the value of applying the Work Locus of Control Scale in predicting work-related outcomes. Study 1 surveyed 323 employees from different companies in China and found that the domain-specific scale was more predictive than the general scale in predicting perceived stressors, rather than in predicting organizational affective commitment and altruistic behaviour. Study 2 applied a multi-wave and multi-source design and used commensurate Likert scales to measure work and general locus of control. Participants were 344 employees from one corporation. Work locus of control was found to be more useful in predicting supervisor-rated job performance, conscientious and altruistic behaviours. These findings help understand the theory-based and measurement-based reasons for the advantages of using domain-specific measures. They claim the importance for employing the domain-specific measure to predict work-related perceptions and behaviours. Implications for the theory and practice are discussed.

  6. TCR gene segments from at least one third of V alpha subfamilies rearrange at the delta locus.

    PubMed

    Genevée, C; Chung, V; Diu, A; Hercend, T; Triebel, F

    1994-02-01

    Using PCR and an experimentally validated V alpha subfamily-specific oligonucleotide panel (V alpha 1-w29), we have investigated whether the TCR delta chain may increase its combinatorial diversity by using V genes considered as alpha chain-specific. We show that at least 10 distinct human V alpha segments rearrange at the J delta locus, leading to scrambling of the two V gene repertoires. Fifty-five per cent of the V alpha/J delta transcripts characterized here were in frame. The 17 V alpha/C delta chains analysed included an extended CDR3 region with up to 18 aa encoded by the junctional region. In addition, a new J delta segment (J delta 4) has been characterized. Together, these findings demonstrate that combinatorial diversity in the human delta locus is larger than previously thought.

  7. Potential linkage disequilibrium between schizophrenia and locus D22S278 on the long arm of chromosome 22

    SciTech Connect

    Moises, H.W.; Yang, L.; Havsteen, B.

    1995-10-09

    Locus D22S278 at 22q12 has been implicated in schizophrenia by sib-pair analysis. In order to replicate these results, we performed the transmission test for linkage disequilibrium (TDT) in 113 unrelated schizophrenic patients and their 226 parents. Evidence for potential linkage disequilibrium was obtained between schizophrenia and allele 243 of the marker AFM 182xd12 at the locus D22S278 (P = 0.02). The results of our study suggest a detectable oligogenic gene in a multigene system for schizophrenia closely linked to D22S278 on the long arm of chromosome 22. If confirmed by others, this finding could lead to the identification of a schizophrenia susceptibility gene. 12 refs., 1 tab.

  8. Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

    PubMed Central

    Toomes, Carmel; Bottomley, Helen M.; Jackson, Richard M.; Towns, Katherine V.; Scott, Sheila; Mackey, David A.; Craig, Jamie E.; Jiang, Li; Yang, Zhenglin; Trembath, Richard; Woodruff, Geoffrey; Gregory-Evans, Cheryl Y.; Gregory-Evans, Kevin; Parker, Michael J.; Black, Graeme C. M.; Downey, Louise M.; Zhang, Kang; Inglehearn, Chris F.

    2004-01-01

    Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Autosomal dominant FEVR is genetically heterogeneous, but its principal locus, EVR1, is on chromosome 11q13-q23. The gene encoding the Wnt receptor frizzled-4 (FZD4) was recently reported to be the EVR1 gene, but our mutation screen revealed fewer patients harboring mutations than expected. Here, we describe mutations in a second gene at the EVR1 locus, low-density-lipoprotein receptor–related protein 5 (LRP5), a Wnt coreceptor. This finding further underlines the significance of Wnt signaling in the vascularization of the eye and highlights the potential dangers of using multiple families to refine genetic intervals in gene-identification studies. PMID:15024691

  9. Recapitulation of the ovum mutant (Om) phenotype and loss of Om locus polarity in cloned mouse embryos.

    PubMed

    Gao, Shaorong; Wu, Guangming; Han, Zhiming; de la Casa-Esperón, Elena; Sapienza, Carmen; Latham, Keith E

    2005-02-01

    The ovum mutant (Om) locus in mice affects early interactions between sperm and egg that in turn affect viability of embryos beyond the morula stage. Crosses of DDK females to males of many other inbred strains are 95% lethal around the morula stage, whereas reciprocal crosses are fully viable. Available data indicate that the early lethality is the result of an interaction between a factor in the ooplasm and the paternal genome. In this study, we examined whether this lethal interaction would likewise occur in cloned embryos produced by somatic cell nuclear transfer. We find that the Om effect is recapitulated but that the parental origin effect at the Om locus is no longer evident in cloned embryos.

  10. Relationship between parental locus of control and caries experience in preschool children - cross-sectional survey.

    PubMed

    Lencová, Erika; Pikhart, Hynek; Broukal, Zdenek; Tsakos, Georgios

    2008-06-12

    Due to high prevalence and serious impacts, childhood caries represents a public health issue. Behavioural risk factors such as locus of health control have been implicated in the development of the disease; however their association with childhood caries has not been thoroughly studied. The aim of this cross-sectional survey was to assess the relationship between parental locus of health control and caries experience and untreated caries of their preschool children in a representative sample in Czech Republic, adjusting for relevant sociodemographic characteristics. A representative sample of 285 preschool children and their parents was recruited. Study data included children's dental status recorded in nurseries and parental questionnaires with 13 attitudinal items regarding locus of control (LoC) in caries prevention. The association between parental locus of control and children's caries experience and level of untreated caries was analysed using logistic regression, adjusting for the effect of key sociodemographic variables. There was a statistically highly significant linear trend between increased parental LoC and higher probability of the children to be free from untreated caries, independent from the effect of sociodemographic variables of children and parents. A similar highly statistically significant trend, although not entirely linear, and independent from sociodemographic variables was observed with respect to the chance of the children to be free from caries experience with increasing strength of parental LoC. After full adjustment, children in the strongest parental LoC quintile were 2.81 (1.23-6.42, p< 0.05) times more likely to be free from untreated caries in comparison to the weakest parental LoC quintile and 2.32 (1.02-5.25, p< 0.05) times more likely to be free from caries experience in comparison to the weakest parental LoC quintile. The findings support the hypothesis that higher internal parental LoC is associated with better control of

  11. Germline mosaicism at the fragile X locus

    SciTech Connect

    Papp, A.C.; Snyder, P.J.; Sedra, M.S.

    1994-09-01

    The fragile X full mutation, which is associated with the phenotypic expression of the disorder, is characterized by an expansion of CGG repeat and hypermethylation of the CpG island adjacent to the FMR1 gene. New mutations leading to amplification of the CGG repeat have not been reported. We have identified a fragile X syndrome pedigree where the disorder is associated with a molecular deletion. The deletion was present in the DNA of two affected sons but was absent in the mother`s somatic cell (lymphocyte) DNA. This was confirmed by dosage analysis of the Southern blot using StB12-3 and an additional probe against the dystrophin gene and by PCR analysis of DXS548 alleles. The results are consistent with the deletion arising as a postzygotic event in the mother, who therefore is germinally mosaic. The case reported here clearly demonstrates that FMR1 deletions, unlike the expansions, are not always inherited and the finding of heterozygosity or normal dosage from lymphocyte DNA in the mother of a deletion case does not necessarily rule out the possibility of having a second affected child. The deletion of FMR1 gene may be responsible for a small but significant number of fragile X cases. Therefore, it is imperative that those involved in genetic counseling recognize this diagnostic pitfall. Since it depends upon the size of the mutant clone in the mosaic mother, the exact recurrence risk in germline carriers is unknown. However, prenatal and carrier testing should be performed independently of the outcome of the mother. Furthermore, it is possible that the deletion may not be restricted to the germline, and therefore the mother may actually be a somatic mosaic.

  12. The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.

    PubMed

    Hippolyte, Loyse; Maillard, Anne M; Rodriguez-Herreros, Borja; Pain, Aurélie; Martin-Brevet, Sandra; Ferrari, Carina; Conus, Philippe; Macé, Aurélien; Hadjikhani, Nouchine; Metspalu, Andres; Reigo, Anu; Kolk, Anneli; Männik, Katrin; Barker, Mandy; Isidor, Bertrand; Le Caignec, Cédric; Mignot, Cyril; Schneider, Laurence; Mottron, Laurent; Keren, Boris; David, Albert; Doco-Fenzy, Martine; Gérard, Marion; Bernier, Raphael; Goin-Kochel, Robin P; Hanson, Ellen; Green Snyder, LeeAnne; Ramus, Franck; Beckmann, Jacques S; Draganski, Bogdan; Reymond, Alexandre; Jacquemont, Sébastien

    2016-07-15

    Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of these two CNVs have not yet been reported. This study investigates the relationship between the number of genomic copies at the 16p11.2 locus and cognitive domains assessed in 62 deletion carriers, 44 duplication carriers, and 71 intrafamilial control subjects. IQ is decreased in deletion and duplication carriers, but we demonstrate contrasting cognitive profiles in these reciprocal CNVs. Deletion carriers present with severe impairments of phonology and of inhibition skills beyond what is expected for their IQ level. In contrast, for verbal memory and phonology, the data may suggest that duplication carriers outperform intrafamilial control subjects with the same IQ level. This finding is reminiscent of special isolated skills as well as contrasting language performance observed in autism spectrum disorder. Some domains, such as visuospatial and working memory, are unaffected by the 16p11.2 locus beyond the effect of decreased IQ. Neuroimaging analyses reveal that measures of inhibition covary with neuroanatomic structures previously identified as sensitive to 16p11.2 CNVs. The simultaneous study of reciprocal CNVs suggests that the 16p11.2 genomic locus modulates specific cognitive skills according to the number of genomic copies. Further research is warranted to replicate these findings and elucidate the molecular mechanisms modulating these cognitive performances. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  13. A copy number variant at the KITLG locus likely confers risk for canine squamous cell carcinoma of the digit.

    PubMed

    Karyadi, Danielle M; Karlins, Eric; Decker, Brennan; vonHoldt, Bridgett M; Carpintero-Ramirez, Gretchen; Parker, Heidi G; Wayne, Robert K; Ostrander, Elaine A

    2013-03-01

    The domestic dog is a robust model for studying the genetics of complex disease susceptibility. The strategies used to develop and propagate modern breeds have resulted in an elevated risk for specific diseases in particular breeds. One example is that of Standard Poodles (STPOs), who have increased risk for squamous cell carcinoma of the digit (SCCD), a locally aggressive cancer that causes lytic bone lesions, sometimes with multiple toe recurrence. However, only STPOs of dark coat color are at high risk; light colored STPOs are almost entirely unaffected, suggesting that interactions between multiple pathways are necessary for oncogenesis. We performed a genome-wide association study (GWAS) on STPOs, comparing 31 SCCD cases to 34 unrelated black STPO controls. The peak SNP on canine chromosome 15 was statistically significant at the genome-wide level (P(raw) = 1.60 × 10(-7); P(genome) = 0.0066). Additional mapping resolved the region to the KIT Ligand (KITLG) locus. Comparison of STPO cases to other at-risk breeds narrowed the locus to a 144.9-Kb region. Haplotype mapping among 84 STPO cases identified a minimal region of 28.3 Kb. A copy number variant (CNV) containing predicted enhancer elements was found to be strongly associated with SCCD in STPOs (P = 1.72 × 10(-8)). Light colored STPOs carry the CNV risk alleles at the same frequency as black STPOs, but are not susceptible to SCCD. A GWAS comparing 24 black and 24 light colored STPOs highlighted only the MC1R locus as significantly different between the two datasets, suggesting that a compensatory mutation within the MC1R locus likely protects light colored STPOs from disease. Our findings highlight a role for KITLG in SCCD susceptibility, as well as demonstrate that interactions between the KITLG and MC1R loci are potentially required for SCCD oncogenesis. These findings highlight how studies of breed-limited diseases are useful for disentangling multigene disorders.

  14. Association between prostate cancer in black Americans and an allele of the PADPRP pseudogene locus on chromosome 13

    SciTech Connect

    Doll, J.A.; Suarez, B.K.; Donis-Keller, H.

    1996-02-01

    Black American men have a higher incidence of cancer of the prostate (CAP), multiple myeloma, and lung cancer than do white American men. The basis for these differences no doubt includes environmental influences, because American blacks have also been found to have a higher incidence of CAP than do African blacks. However, genetic factors may play a role as well. For example, Lyn et al. reported an increase in the frequency of an allele of the poly(ADP-ribose) polymerase (PADPRP) pseudogene locus on chromosome 13 in black Americans with CAP, suggesting the presence of a disease-susceptibility locus. Since only nine CAP patients were studied, proof of the significance of the finding for the general population of black Americans will rely on independent replication of the result and studies with larger sample sizes. We have doubled the number of black American CAP patients studied at the PADPRP pseudogene locus on chromosome 13 and compared them with white Americans with CAP, along with reference samples. In addition, we have determined allele frequencies by using a larger number of white individuals, from the CEPH reference pedigree resource, and a larger number of black Americans than previously reported, which may reflect more accurately the allele frequencies in these populations. We also find a statistically significant association between an allele at the PADPRP pseudogene locus and CAP in black Americans; however, it is not the same allele reported by Lyn et al. Furthermore, we tested CAP tumor DNA for chromosome 13 PADPRP pseudogene region deletions. In contrast to the report of Bhatia et al., we found no evidence for deletions that would suggest the presence of a tumor-suppressor gene in this region of chromosome 13. 16 refs., 2 tabs.

  15. Targeting a CAR to the TRAC locus with CRISPR/Cas9 enhances tumour rejection

    PubMed Central

    Eyquem, Justin; Mansilla-Soto, Jorge; Giavridis, Theodoros; van der Stegen, Sjoukje J. C.; Hamieh, Mohamad; Cunanan, Kristen M.; Odak, Ashlesha; Gönen, Mithat; Sadelain, Michel

    2017-01-01

    Chimeric antigen receptors (CARs) are synthetic receptors that redirect and reprogram T cells to mediate tumour rejection1. The most successful CARs used to date are those targeting CD19 (ref. 2), which offer the prospect of complete remission in patients with chemorefractory or relapsed B-cell malignancies3. CARs are typically transduced into the T cells of a patient using γ-retroviral4 vectors or other randomly integrating vectors5, which may result in clonal expansion, oncogenic transformation, variegated transgene expression and transcriptional silencing6–8. Recent advances in genome editing enable efficient sequence-specific interventions in human cells9,10, including targeted gene delivery to the CCR5 and AAVS1 loci11,12. Here we show that directing a CD19-specific CAR to the T-cell receptor α constant (TRAC) locus not only results in uniform CAR expression in human peripheral blood T cells, but also enhances T-cell potency, with edited cells vastly outperforming conventionally generated CAR T cells in a mouse model of acute lymphoblastic leukaemia. We further demonstrate that targeting the CAR to the TRAC locus averts tonic CAR signalling and establishes effective internalization and re-expression of the CAR following single or repeated exposure to antigen, delaying effector T-cell differentiation and exhaustion. These findings uncover facets of CAR immunobiology and underscore the potential of CRISPR/Cas9 genome editing to advance immunotherapies. PMID:28225754

  16. Confirmation of susceptibility locus on chromosome 13 in Australian breast cancer families.

    PubMed

    Grimmond, S M; Palmer, J M; Walters, M K; Scott, C; Nancarrow, D J; Teh, B T; Elmes, C; Pyke, C; Khoo, S K; Bennett, I; Wetzig, N; Hayward, N K

    1996-07-01

    Two major genes determining predisposition to breast cancer, termed BRCA1 and BRCA2, have been mapped to the long arms of chromosomes 17 and 13, respectively. Each locus is believed to account for approximately 40% of cases of familial breast cancer. We used linkage and haplotype analysis with simple tandem repeat polymorphisms at chromosomal bands 17q21 and 13q12 to determine the contribution of the BRCA1 and BRCA2 genes to predisposition to breast cancer in four Australian breast cancer kindreds, one of which had two male cousins with breast cancer. Surprisingly all families segregated a haplotype of markers on 13q and showed positive lod scores supporting linkage to BRCA2. In addition, haplotype analysis identified an informative recombination between D13S260 and D13S171 in one affected individual, which refines the localisation of BRCA2 to between D13S260 and D13S267; a distance of 2-3 cM. Tumours of the stomach and cervix, as well as melanoma and leukaemia/lymphoma also occur in these pedigrees but the numbers are too low to determine whether they may be significantly associated with BRCA2 carrier status. Our results confirm the existence of BRCA2 on the long arm of chromosome 13 and support previous findings that this locus is likely to confer risk in families with affected males. Furthermore, our observations suggest that the BRCA2 gene may also contribute to the development of other neoplasma.

  17. Segregation distortion of the CTG repeats at the myotonic dystrophy locus

    SciTech Connect

    Chakraborty, R.; Stivers, D.N.; Deka, R.; Yu, Ling M.; Shriver, M.D.; Ferrell, R.E.

    1996-07-01

    Myotonic dystrophy (DM), an autosomal dominant neuromuscular disease, is caused by a CTG-repeat expansion, with affected individuals having {ge}50 repeats of this trinucleotide, at the DMPK locus of human chromosome 19q13.3. Severely affected individuals die early in life; the milder form of this disease reduces reproductive ability. Alleles in the normal range of CTG repeats are not as unstable as the (CTG){sub {ge}50} alleles. In the DM families, anticipation and parental bias of allelic expansions have been noted. However, data on mechanism of maintenance of DM in populations are conflicting. We present a maximum-likelihood model for examining segregation distortion of CTG-repeat alleles in normal families. Analyzing 726 meiotic events in 95 nuclear families from the CEPH panel pedigrees, we find evidence of preferential transmission of larger alleles (of size {le}29 repeats) from females (the probability of transmission of larger alleles is .565 {plus_minus} 0.03, different from .5 at P {approx} .028). There is no evidence of segregation distortion during male meiosis. We propose a hypothesis that preferential transmission of larger CTG-repeat alleles during female meiosis can compensate for mutational contraction of repeats within the normal allelic size range, and reduced viability and fertility of affected individuals. Thus, the pool of premutant alleles at the DM locus can be maintained in populations, which can subsequently mutate to the full mutation status to give rise to DM. 31 refs., 1 fig., 5 tabs.

  18. Statistical epistasis networks reduce the computational complexity of searching three-locus genetic models.

    PubMed

    Hu, Ting; Andrew, Angeline S; Karagas, Margaret R; Moore, Jason H

    2013-01-01

    The rapid development of sequencing technologies makes thousands to millions of genetic attributes available for testing associations with various biological traits. Searching this enormous high-dimensional data space imposes a great computational challenge in genome-wide association studies. We introduce a network-based approach to supervise the search for three-locus models of disease susceptibility. Such statistical epistasis networks (SEN) are built using strong pairwise epistatic interactions and provide a global interaction map to search for higher-order interactions by prioritizing genetic attributes clustered together in the networks. Applying this approach to a population-based bladder cancer dataset, we found a high susceptibility three-way model of genetic variations in DNA repair and immune regulation pathways, which holds great potential for studying the etiology of bladder cancer with further biological validations. We demonstrate that our SEN-supervised search is able to find a small subset of three-locus models with significantly high associations at a substantially reduced computational cost.

  19. Targeting a CAR to the TRAC locus with CRISPR/Cas9 enhances tumour rejection.

    PubMed

    Eyquem, Justin; Mansilla-Soto, Jorge; Giavridis, Theodoros; van der Stegen, Sjoukje J C; Hamieh, Mohamad; Cunanan, Kristen M; Odak, Ashlesha; Gönen, Mithat; Sadelain, Michel

    2017-03-02

    Chimeric antigen receptors (CARs) are synthetic receptors that redirect and reprogram T cells to mediate tumour rejection. The most successful CARs used to date are those targeting CD19 (ref. 2), which offer the prospect of complete remission in patients with chemorefractory or relapsed B-cell malignancies. CARs are typically transduced into the T cells of a patient using γ-retroviral vectors or other randomly integrating vectors, which may result in clonal expansion, oncogenic transformation, variegated transgene expression and transcriptional silencing. Recent advances in genome editing enable efficient sequence-specific interventions in human cells, including targeted gene delivery to the CCR5 and AAVS1 loci. Here we show that directing a CD19-specific CAR to the T-cell receptor α constant (TRAC) locus not only results in uniform CAR expression in human peripheral blood T cells, but also enhances T-cell potency, with edited cells vastly outperforming conventionally generated CAR T cells in a mouse model of acute lymphoblastic leukaemia. We further demonstrate that targeting the CAR to the TRAC locus averts tonic CAR signalling and establishes effective internalization and re-expression of the CAR following single or repeated exposure to antigen, delaying effector T-cell differentiation and exhaustion. These findings uncover facets of CAR immunobiology and underscore the potential of CRISPR/Cas9 genome editing to advance immunotherapies.

  20. Validation of an adaptation of Levenson's locus of control scale with adult male incarcerated sexual offenders.

    PubMed

    Huntley, Fay L; Palmer, Emma J; Wakeling, Helen C

    2012-02-01

    This article examines the psychometric properties of an adaptation of Levenson's Locus of Control (LoC) measure that is used by the English and Welsh Prison Service as part of the psychometric assessment battery for sexual offenders participating in the Sex Offender Treatment Programme (SOTP). Reliability and validity analyses were conducted on a sample of 2,497 sexual offenders who had completed SOTP. Internal consistency, convergent validity, and relationship to socially desirable responding were investigated. Construct validity was assessed via exploratory factor analysis (EFA) and confirmatory factor analysis (CFA). Test-retest reliability data were collected from an additional sample of 26 sexual offenders. The scale was found to have excellent internal consistency, good test-retest reliability, and weak to moderate convergent validity with measures of self-esteem, attachment styles, emotional loneliness, and social problem solving. There was a moderate correlation between the scale and socially desirable responding. EFA and CFA suggested that a four-factor solution provided an acceptable fit to the data, with the factors relating to constructs of chance, problem solving, powerful others, and internal control. The findings of the present study suggest that the adapted LoC Scale is a useful tool for assessing sexual offenders' locus of control.

  1. Perifoveal function in patients with North Carolina macular dystrophy: the importance of accounting for fixation locus.

    PubMed

    Seiple, William; Szlyk, Janet P; Paliga, Jennifer; Rabb, Maurice F

    2006-04-01

    To quantify the extent of visual function losses in patients with North Carolina Macular Dystrophy (NCMD) and to demonstrate the importance of accounting for eccentric fixation when making comparisons with normal data. Five patients with NCMD who were from a single family were examined. Multifocal electroretinograms (mfERGs) and psychophysical assessments of acuity and luminance visual field sensitivities were measured throughout the central retina. Comparisons of responses from equivalent retinal areas were accomplished by shifting normal templates to be centered at the locus of fixation for each patient. Losses of psychophysically measured visual function in patients with NCMD extend to areas adjacent to the locations of visible lesions. The multifocal ERG amplitude was reduced only within the area of visible lesion. Multifocal ERG implicit times were delayed throughout the entire central retinal area assessed. ERG timing is a sensitive assay of retinal function, and our results indicate that NCMD has a widespread effect at the level of the mid and outer retina. The findings also demonstrated that it is necessary to account for fixation locus and to ensure that equivalent retinal areas are compared when testing patients with macular disease who have eccentric fixation.

  2. Adapting in vitro embryonic stem cell differentiation to the study of locus control regions.

    PubMed

    Lahiji, Armin; Kučerová-Levisohn, Martina; Holmes, Roxanne; Zúñiga-Pflücker, Juan Carlos; Ortiz, Benjamin D

    2014-05-01

    Numerous locus control region (LCR) activities have been discovered in gene loci important to immune cell development and function. LCRs are a distinct class of cis-acting gene regulatory elements that appear to contain all the DNA sequence information required to establish an independently and predictably regulated gene expression program at any genomic site in native chromatin of a whole animal. As such, LCR-regulated transgenic reporter systems provide invaluable opportunities to investigate the mechanisms of gene regulatory DNA action during development. Furthermore the qualities of LCR-driven gene expression, including spatiotemporal specificity and "integration site-independence" would be highly desirable to incorporate into vectors used in therapeutic genetic engineering. Thus, advancement in the methods used to investigate LCRs is of considerable basic and translational significance. We study the LCR present in the mouse T cell receptor (TCR)-α gene locus. Until recently, transgenic mice provided the only experimental model capable of supporting the entire spectrum of LCR activities. We have recently reported complete manifestation of TCRα LCR function in T cells derived in vitro from mouse embryonic stem cells (ESC), thus validating a complete cell culture model for the full range of LCR activities seen in transgenic mice. Here we discuss the critical parameters involved in studying LCR-regulated gene expression during in vitro hematopoietic differentiation from ESCs. This advance provides an approach to speed progress in the LCR field, and facilitate the clinical application of its findings, particularly to the genetic engineering of T cells.

  3. A Comprehensive Study of Molecular Evolution at the Self-Incompatibility Locus of Rosaceae.

    PubMed

    Ashkani, Jahanshah; Rees, D J G

    2016-03-01

    The family Rosaceae includes a range of important fruit trees, most of which have the S-RNase-based self-incompatibility (SI). Several models have been developed to explain how pollen (SLF) and pistil (S-RNase) components of the S-locus interact. It was discovered in 2010 that additional SLF proteins are involved in pollen specificity, and a Collaborative Non-Self Recognition model has been proposed for SI in Solanaceae; however, the validity of such model remains to be elucidated for other species. The results of this study support the divergent evolution of the S-locus genes from two Rosaceae subfamilies, Prunoideae/Amygdaloideae and Maloideae, The difference identified in the selective pressures between the two lineages provides evidence for positive selection at specific sites in both the S-RNase and the SLF proteins. The evolutionary findings of this study support the role of multiple SLF proteins leading to a Collaborative Non-Self Recognition model for SI in the Maloideae. Furthermore, the identification of the sites responsible for SI specificity determination and the mapping of these sites onto the modelled tertiary structure of ancestor proteins provide useful information for rational functional redesign and protein engineering for the future engineering of new functional alleles providing increased diversity in the SI system in the Maloideae.

  4. Unusual Haplotypic Structure of IL8, a Susceptibility Locus for a Common Respiratory Virus

    PubMed Central

    Hull, Jeremy; Ackerman, Hans; Isles, Kate; Usen, Stanley; Pinder, Margaret; Thomson, Anne; Kwiatkowski, Dominic

    2001-01-01

    Interleukin-8 (IL8) is believed to play a role in the pathogenesis of bronchiolitis, a common viral disease of infancy, and a recent U.K. family study identified an association between this disease and the IL8−251A allele. In the present study we report data, from a different set of families, which replicate this finding; combined analysis of 194 nuclear families through use of the transmission/disequilibrium test gives P=.001. To explore the underlying genetic cause, we identified nine single-nucleotide polymorphisms (SNPs) in a 7.6-kb segment spanning the IL8 gene and its promoter region and used six of these SNPs to define the haplotypic structure of the IL8 locus. The IL8−251A allele resides on two haplotypes, only one of which is associated with disease, suggesting that this may not be the functional allele. Europeans show an unusual haplotype genealogy that is dominated by two common haplotypes differing at multiple sites, whereas Africans have much greater haplotypic diversity. These marked haplotype-frequency differences give an FST of .25, and, in the European sample, both Tajima’s D statistic (D=2.58,P=.007) and the Hudson/Kreitman/Aguade test (χ2=4.9,P=.03) reject neutral equilibrium, suggesting that selective pressure may have acted on this locus. PMID:11431705

  5. Locus of word frequency effects in spelling to dictation: Still at the orthographic level!

    PubMed

    Bonin, Patrick; Laroche, Betty; Perret, Cyril

    2016-11-01

    The present study was aimed at testing the locus of word frequency effects in spelling to dictation: Are they located at the level of spoken word recognition (Chua & Rickard Liow, 2014) or at the level of the orthographic output lexicon (Delattre, Bonin, & Barry, 2006)? Words that varied on objective word frequency and on phonological neighborhood density were orally presented to adults who had to write them down. Following the additive factors logic (Sternberg, 1969, 2001), if word frequency in spelling to dictation influences a processing level, that is, the orthographic output level, different from that influenced by phonological neighborhood density, that is, spoken word recognition, the impact of the 2 factors should be additive. In contrast, their influence should be overadditive if they act at the same processing level in spelling to dictation, namely the spoken word recognition level. We found that both factors had a reliable influence on the spelling latencies but did not interact. This finding is in line with an orthographic output locus hypothesis of word frequency effects in spelling to dictation. (PsycINFO Database Record

  6. Causal attributions as a function of locus of control, initial confidence, and performance outcomes.

    PubMed

    Lefcourt, H M; Hogg, E; Struthers, S; Holmes, C

    1975-09-01

    Causal attributions and body movements indicative of tension were recorded while subjects completed an anagrams task that was more extensive than most similar tasks used in attribution studies. Nine trials each containing 10 anagrams were presented such that most subjects succeeded on three sets of relatively simple anagrams, failed on three sets of difficult anagrams, and either succeeded or failed on three sets of intermediately difficult anagrams. Attributions and body movements were predicted by a combination of locus of control, initial confidence, and type of outcome. High-confident internals attributed responsibility for outcomes to themselves more than did low-confident externals, and this difference was most prominent when subjects failed. Tension-indicating body movements were also less common among the former than the latter subjects and were in greater evidence with failure than with success. The data indicate that there is consistency between locus of control and causal attributions obtained during performances. The data also correspond to the findings on helplessness in which aversive agents prove to be more deleterious when individuals perceive themselves as unable to alter their negative circumstances.

  7. Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.

    PubMed

    Reynolds, J E; Arnos, K S; Landa, B; Stevens, C A; Salbert, B A; Wright, L; Duke, B; Hunt, W; Marazita, M L; Ploughman, L

    1995-01-01

    We performed linkage and locus heterogeneity analyses of Waardenburg syndrome (WS) types 1 and 2 using 9 DNA markers from 2q35-q37, including two highly polymorphic microsatellites very closely linked to the PAX3 candidate gene. None of 5 WS type 2 (WS2) families showed linkage to the PAX3 candidate region. We localized the marker D2S102 to less than 1 cM from PAX3 (lod = 33.7, theta = 0), but a complete absence of crossovers prevented determining whether it maps distal or proximal to PAX3. Study of 14 WS type 1 (WS1) families yielded a maximum lod score of 27.81 at PAX3, theta f = 0.010, theta = 0.007 assuming homogeneity. However, we found significant evidence of locus heterogeneity, with one family initially classified as WS1 unlinked to the PAX3 region. Reevaluation of the clinical features of this family revealed atypical morphology of inner canthi. This produced the appearance of dystopia canthorum and high W-index scores. While our one unlinked WS1 family exhibits atypical canthal morphology, our type 1 families with classic dystopia appear to be homogeneously linked to PAX3. These and other findings identify precautions that need to be addressed before using PAX3-linked markers for diagnostic purposes.

  8. Genome-wide identification of lineage and locus specific variation associated with pneumococcal carriage duration

    PubMed Central

    Croucher, Nicholas J; Goldblatt, David; Nosten, François; Parkhill, Julian; Turner, Claudia

    2017-01-01

    Streptococcus pneumoniae is a leading cause of invasive disease in infants, especially in low-income settings. Asymptomatic carriage in the nasopharynx is a prerequisite for disease, but variability in its duration is currently only understood at the serotype level. Here we developed a model to calculate the duration of carriage episodes from longitudinal swab data, and combined these results with whole genome sequence data. We estimated that pneumococcal genomic variation accounted for 63% of the phenotype variation, whereas the host traits considered here (age and previous carriage) accounted for less than 5%. We further partitioned this heritability into both lineage and locus effects, and quantified the amount attributable to the largest sources of variation in carriage duration: serotype (17%), drug-resistance (9%) and other significant locus effects (7%). A pan-genome-wide association study identified prophage sequences as being associated with decreased carriage duration independent of serotype, potentially by disruption of the competence mechanism. These findings support theoretical models of pneumococcal competition and antibiotic resistance. PMID:28742023

  9. Genetic diversity and evolution of the human leptin locus tetranucleotide repeat.

    PubMed

    Moffett, Susan; Martinson, Jeremy; Shriver, Mark D; Deka, Ranjan; McGarvey, Stephen T; Barrantes, Ramiro; Ferrell, Robert E

    2002-05-01

    To better understand the evolutionary history of the gene region containing the multifunctional adipose tissue hormone leptin, we genotyped 1,957 individuals from 12 world populations for a highly variable tetranucleotide repeat polymorphism located 476 bp 3' of exon 3 of the leptin gene. Common alleles shared among populations, alleles specific to geographically defined populations, and the homologous alleles in the common and pygmy chimpanzee, the gorilla and the orangutan, were sequenced to define the allelic variation at the nucleotide level. These data reveal a common set of alleles shared among world populations, presumed to have arisen from a great ape ancestral allele prior to the divergence of the major geographical subdivisions of the human population, a subset of alleles specific to populations of African ancestry and a second set of alleles that arose by tandem duplication of the core repeat unit following the separation of African and non-African populations. These findings emphasize the complex evolutionary history of this locus and raise cautions about the pooling of alleles at this locus in association studies.

  10. Accessory Gene Regulator-1 Locus Is Essential for Virulence and Pathogenesis of Clostridium difficile

    PubMed Central

    Odo, Chioma; DuPont, Herbert L.

    2016-01-01

    ABSTRACT Clostridium difficile infection (CDI) is responsible for most of the definable cases of antibiotic- and hospital-associated diarrhea worldwide and is a frequent cause of morbidity and mortality in older patients. C. difficile, a multidrug-resistant anaerobic pathogen, causes disease by producing toxins A and B, which are controlled by an accessory gene regulator (Agr) quorum signaling system. Some C. difficile strains encode two Agr loci in their genomes, designated agr1 and agr2. The agr1 locus is present in all of the C. difficile strains sequenced to date, whereas the agr2 locus is present in a few strains. The functional roles of agr1 and agr2 in C. difficile toxin regulation and pathogenesis were unknown until now. Using allelic exchange, we deleted components of both agr loci and examined the mutants for toxin production and virulence. The results showed that the agr1 mutant cannot produce toxins A and B; toxin production can be restored by complementation with wild-type agr1. Furthermore, the agr1 mutant is able to colonize but unable to cause disease in a murine CDI model. These findings have profound implications for CDI treatment because we have uncovered a promising therapeutic target for the development of nonantibiotic drugs to treat this life-threatening emerging pathogen by targeting the toxins directly responsible for disease. PMID:27531912

  11. The Demise of the Synapse As the Locus of Memory: A Looming Paradigm Shift?

    PubMed Central

    Trettenbrein, Patrick C.

    2016-01-01

    Synaptic plasticity is widely considered to be the neurobiological basis of learning and memory by neuroscientists and researchers in adjacent fields, though diverging opinions are increasingly being recognized. From the perspective of what we might call “classical cognitive science” it has always been understood that the mind/brain is to be considered a computational-representational system. Proponents of the information-processing approach to cognitive science have long been critical of connectionist or network approaches to (neuro-)cognitive architecture, pointing to the shortcomings of the associative psychology that underlies Hebbian learning as well as to the fact that synapses are practically unfit to implement symbols. Recent work on memory has been adding fuel to the fire and current findings in neuroscience now provide first tentative neurobiological evidence for the cognitive scientists' doubts about the synapse as the (sole) locus of memory in the brain. This paper briefly considers the history and appeal of synaptic plasticity as a memory mechanism, followed by a summary of the cognitive scientists' objections regarding these assertions. Next, a variety of tentative neuroscientific evidence that appears to substantiate questioning the idea of the synapse as the locus of memory is presented. On this basis, a novel way of thinking about the role of synaptic plasticity in learning and memory is proposed. PMID:27909400

  12. Control over speeded actions: a common processing locus for micro- and macro-trade-offs?

    PubMed

    Jentzsch, Ines; Leuthold, Hartmut

    2006-08-01

    Cognitive control processes associated with long- and short-term adjustments of human behaviour have attracted much interest recently. It is still unclear, however, whether the mechanisms underlying these adjustments share a common locus within the chain of stimulus-response processing. In order to address this issue, the present study employed a speed-accuracy instruction producing a macro-trade-off, whereas micro-trade-off was studied by means of posterror slowing in reaction time (RT). Participants performed a spatially compatible or incompatible four-stimuli-to-two-response alternative choice RT task. Reliable variations in micro-and macro-trade-off as well as effects of spatial compatibility were found in RT and error rate. Most importantly, posterror slowing was larger when instruction stressed accuracy rather than speed, an effect being independent of spatial compatibility. Because the influence of speed-accuracy instruction and posterror slowing on performance was strongest for response alternations, together present findings suggest that the mechanisms underlying micro- and macro-trade-offs have one common locus at the level of motor processing. Additional influences of macro-trade-off on premotoric processing are likely.

  13. Lactobacillus buchneri genotyping on the basis of clustered regularly interspaced short palindromic repeat (CRISPR) locus diversity.

    PubMed

    Briner, Alexandra E; Barrangou, Rodolphe

    2014-02-01

    Clustered regularly interspaced short palindromic repeats (CRISPR) in combination with associated sequences (cas) constitute the CRISPR-Cas immune system, which uptakes DNA from invasive genetic elements as novel "spacers" that provide a genetic record of immunization events. We investigated the potential of CRISPR-based genotyping of Lactobacillus buchneri, a species relevant for commercial silage, bioethanol, and vegetable fermentations. Upon investigating the occurrence and diversity of CRISPR-Cas systems in Lactobacillus buchneri genomes, we observed a ubiquitous occurrence of CRISPR arrays containing a 36-nucleotide (nt) type II-A CRISPR locus adjacent to four cas genes, including the universal cas1 and cas2 genes and the type II signature gene cas9. Comparative analysis of CRISPR spacer content in 26 L. buchneri pickle fermentation isolates associated with spoilage revealed 10 unique locus genotypes that contained between 9 and 29 variable spacers. We observed a set of conserved spacers at the ancestral end, reflecting a common origin, as well as leader-end polymorphisms, reflecting recent divergence. Some of these spacers showed perfect identity with phage sequences, and many spacers showed homology to Lactobacillus plasmid sequences. Following a comparative analysis of sequences immediately flanking protospacers that matched CRISPR spacers, we identified a novel putative protospacer-adjacent motif (PAM), 5'-AAAA-3'. Overall, these findings suggest that type II-A CRISPR-Cas systems are valuable for genotyping of L. buchneri.

  14. Lactobacillus buchneri Genotyping on the Basis of Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR) Locus Diversity

    PubMed Central

    Briner, Alexandra E.

    2014-01-01

    Clustered regularly interspaced short palindromic repeats (CRISPR) in combination with associated sequences (cas) constitute the CRISPR-Cas immune system, which uptakes DNA from invasive genetic elements as novel “spacers” that provide a genetic record of immunization events. We investigated the potential of CRISPR-based genotyping of Lactobacillus buchneri, a species relevant for commercial silage, bioethanol, and vegetable fermentations. Upon investigating the occurrence and diversity of CRISPR-Cas systems in Lactobacillus buchneri genomes, we observed a ubiquitous occurrence of CRISPR arrays containing a 36-nucleotide (nt) type II-A CRISPR locus adjacent to four cas genes, including the universal cas1 and cas2 genes and the type II signature gene cas9. Comparative analysis of CRISPR spacer content in 26 L. buchneri pickle fermentation isolates associated with spoilage revealed 10 unique locus genotypes that contained between 9 and 29 variable spacers. We observed a set of conserved spacers at the ancestral end, reflecting a common origin, as well as leader-end polymorphisms, reflecting recent divergence. Some of these spacers showed perfect identity with phage sequences, and many spacers showed homology to Lactobacillus plasmid sequences. Following a comparative analysis of sequences immediately flanking protospacers that matched CRISPR spacers, we identified a novel putative protospacer-adjacent motif (PAM), 5′-AAAA-3′. Overall, these findings suggest that type II-A CRISPR-Cas systems are valuable for genotyping of L. buchneri. PMID:24271175

  15. Natural variation in teosinte at the domestication locus teosinte branched1 (tb1)

    PubMed Central

    Vann, Laura; Kono, Thomas; Pyhäjärvi, Tanja

    2015-01-01

    The teosinte branched1(tb1) gene is a major QTL controlling branching differences between maize and its wild progenitor, teosinte. The insertion of a transposable element (Hopscotch) upstream of tb1 is known to enhance the gene’s expression, causing reduced tillering in maize. Observations of the maize tb1 allele in teosinte and estimates of an insertion age of the Hopscotch that predates domestication led us to investigate its prevalence and potential role in teosinte. We assessed the prevalence of the Hopscotch element across an Americas-wide sample of 837 maize and teosinte individuals using a co-dominant PCR assay. Additionally, we calculated population genetic summaries using sequence data from a subset of individuals from four teosinte populations and collected phenotypic data using seed from a single teosinte population where Hopscotch was found segregating at high frequency. Genotyping results indicate the Hopscotch element is found in a number of teosinte populations and linkage disequilibrium near tb1 does not support recent introgression from maize. Population genetic signatures are consistent with selection on the tb1 locus, revealing a potential ecological role, but a greenhouse experiment does not detect a strong association between the Hopscotch and tillering in teosinte. Our findings suggest the role of Hopscotch differs between maize and teosinte. Future work should assess tb1 expression levels in teosinte with and without the Hopscotch and more comprehensively phenotype teosinte to assess the ecological significance of the Hopscotch insertion and, more broadly, the tb1 locus in teosinte. PMID:25909039

  16. An investigation on the mediating role of coping strategies on locus of control-- wellbeing relationship.

    PubMed

    Thiruchelvi, Arunachalam; Supriya, Mangatvadakkeveetil V

    2012-03-01

    The relationship among coping strategies, locus of control, and workplace wellbeing is examined. The model hypothesizes that coping strategies mediate the relationship between locus of control and work place well being. To test the model, data was collected from 154 software professionals using separate tools to assess coping strategies, locus of control and work place wellbeing. Model fit for the collected data was examined using structural equation modeling technique with the help of AMOS. Results support the view that coping strategies mediate the relationship between locus of control and work place wellbeing. While the path between locus of control and wellbeing is significant, the path between coping distraction and wellbeing is not significant.

  17. A locus affecting nucleoid segregation in Salmonella typhimurium.

    PubMed Central

    Schmid, M B

    1990-01-01

    Thirteen temperature-sensitive lethal mutations of Salmonella typhimurium map near metC at 65 min and form the clmF (conditional lethal mutation) locus. The mutations in this region were ordered by three-point transduction crosses. After a shift to the nonpermissive temperature, many of these clmF mutants failed to complete the segregation of nucleoids into daughter cells; daughter nucleoids appeared incompletely separated and asymmetrically positioned within cells. Some clmF mutants showed instability of F' episomes at permissive growth temperatures yet showed no detectable defect with smaller multicopy plasmids such as pSC101 or pBR322. In addition, many of the clmF mutants rapidly lost viability yet continued DNA replication at the nonpermissive temperature. These results suggest that the clmF locus encodes at least one indispensable gene product that is required for faithful partitioning of the bacterial nucleoid and F-plasmid replicons. Images PMID:2203751

  18. The immunoglobulin heavy chain locus in the reptile Anolis carolinensis.

    PubMed

    Gambón Deza, Francisco; Sánchez Espinel, Christian; Magadán Mompó, Susana

    2009-05-01

    We describe the entire immunoglobulin heavy chain (IgH) locus from the reptile Anolis carolinensis. The heavy chain constant (C(H)) region includes C mu, C delta and C upsilon genes. This is the first description of a C upsilon gene in the reptilian class. Variable (V(H)), diversity (D(H)) and joining (J(H)) genes are located 5' from the constant (C(H)) chain complex locus. The C mu and C upsilon genes encode antibodies with four immunoglobulin domains. The C delta gene encoded an 11 domain delta heavy chain as in Eublepharis macularius. Seventy V(H) genes, belonging to 28 families, were identified, and they can be sorted into five broader groups. The similarity of the organization of the reptilian genes with those of amphibians and mammals suggests the existence of a process of heavy chain genomic reorganization before the radiation of tetrapod vertebrates.

  19. Teacher psychological needs, locus of control and engagement.

    PubMed

    Betoret, Fernando Doménech

    2013-01-01

    This study examines the relationships among psychological needs, locus of control and engagement in a sample of 282 Spanish secondary school teachers. Nine teacher needs were identified based on the study of Bess (1977) and on the Self-Determination Theory (Deci & Ryan, 1985, 2000, 2002). Self-report questionnaires were used to measure the construct selected for this study and their interrelationships were examined by conducting hierarchical regression analyses. An analysis of teacher responses using hierarchical regression reveals that psychological needs have significant positive effects on the three engagement dimensions (vigor, dedication and absorption). Furthermore, the results show the moderator role played by locus of control in the relationship between teacher psychological needs and the so-called core of engagement (vigor and dedication). Finally, practical implications are discussed.

  20. The locus of microRNA-10b

    PubMed Central

    Biagioni, Francesca; Bossel Ben-Moshe, Noa; Fontemaggi, Giulia; Yarden, Yosef; Domany, Eytan; Blandino, Giovanni

    2013-01-01

    Contemporary microRNA research has led to significant advances in our understanding of the process of tumorigenesis. MicroRNAs participate in different events of a cancer cell’s life, through their ability to target hundreds of putative transcripts involved in almost every cellular function, including cell cycle, apoptosis, and differentiation. The relevance of these small molecules is even more evident in light of the emerging linkage between their expression and both prognosis and clinical outcome of many types of human cancers. This identifies microRNAs as potential therapeutic modifiers of cancer phenotypes. From this perspective, we overview here the miR-10b locus and its involvement in cancer, focusing on its role in the establishment (miR-10b*) and spreading (miR-10b) of breast cancer. We conclude that targeting the locus of microRNA 10b holds great potential for cancer treatment. PMID:23839045

  1. The Molecular Revolution in Cutaneous Biology: EDC and Locus Control.

    PubMed

    Oh, Inez Y; de Guzman Strong, Cristina

    2017-05-01

    The epidermal differentiation complex (EDC) locus consists of a cluster of genes important for the terminal differentiation of the epidermis. While early studies identified the functional importance of individual EDC genes, the recognition of the EDC genes as a cluster with its shared biology, homology, and physical linkage was pivotal to later studies that investigated the transcriptional regulation of the locus. Evolutionary conservation of the EDC and the transcriptional activation during epidermal differentiation suggested a cis-regulatory mechanism via conserved noncoding elements or enhancers. This line of pursuit led to the identification of CNE 923, an epidermal-specific enhancer that was found to mediate chromatin remodeling of the EDC in an AP-1 dependent manner. These genomic studies, as well as the advent of high-throughput sequencing and genome engineering techniques, have paved the way for future investigation into enhancer-mediated regulatory networks in cutaneous biology. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  2. The permuted locus trial--Well suited for emerging pathogens?

    PubMed

    Porco, Travis C; Keenan, Jeremy D; Enanoria, Wayne T A; Lietman, Thomas M

    2016-03-01

    The recent Ebola virus epidemic was waning by the time stakeholders were ready to field vaccines for testing but an evidence-based response to a novel pathogen will surely be required again. Here, we present a design for such a randomized controlled trial. The permuted locus trial was originally intended for studying the influence of water wells on trachoma. While outcomes can be measured in individuals, neither individuals nor groups are themselves randomized to arms, just potential well-sites, or in the case of an epidemic, index cases. The permuted locus trial may be used when classic individual and cluster-randomized trial design and analyses may not be optimal. Copyright © 2015 Elsevier Inc. All rights reserved.

  3. Refined localization of the Prieto-syndrome locus

    SciTech Connect

    Martinez, F.; Prieto, F.; Gal, A.

    1996-07-12

    PRS designates the locus for a syndromal form of X-linked mental retardation (Prieto syndrome) characterized by minor facial anomalies, ear malformation, abnormal growth of teeth, clinodactyly, sacral dimple, patellar luxation, malformation of lower limbs, abnormalities of the fundus of the eye, and subcortical cerebral atrophy. Linkage analysis localized the disease locus between DXS84 (Xp21.1) and DXS255. Here we present additional linkage data that provide further support and refinement of this localization. Individual III-18 gave birth to a male, currently aged 2 7/12 years, who clearly shows delayed psychomotor development. He began to walk at 23 months and his speech is delayed. In addition, he shows the characteristic facial anomalies, {open_quotes}dysplastic{close_quotes} ears, sacral dimple, and clinodactyly, as do all other affected males in this family. 7 refs., 1 tab.

  4. FE, a phloem-specific Myb-related protein, promotes flowering through transcriptional activation of FLOWERING LOCUS T and FLOWERING LOCUS T INTERACTING PROTEIN 1.

    PubMed

    Abe, Mitsutomo; Kaya, Hidetaka; Watanabe-Taneda, Ayako; Shibuta, Mio; Yamaguchi, Ayako; Sakamoto, Tomoaki; Kurata, Tetsuya; Ausín, Israel; Araki, Takashi; Alonso-Blanco, Carlos

    2015-09-01

    In many flowering plants, the transition to flowering is primarily affected by seasonal changes in day length (photoperiod). An inductive photoperiod promotes flowering via synthesis of a floral stimulus, called florigen. In Arabidopsis thaliana, the FLOWERING LOCUS T (FT) protein is an essential component of florigen, which is synthesized in leaf phloem companion cells and is transported through phloem tissue to the shoot apical meristem where floral morphogenesis is initiated. However, the molecular mechanism involved in the long-distance transport of FT protein remains elusive. In this study, we characterized the classic Arabidopsis mutant fe, which is involved in the photoperiodic induction of flowering, and showed that FE encodes a phloem-specific Myb-related protein that was previously reported as ALTERED PHLOEM DEVELOPMENT. Phenotypic analyses of the fe mutant showed that FT expression is reduced in leaf phloem companion cells. In addition, the transport of FT protein from leaves to the shoot apex is impaired in the fe mutant. Expression analyses further demonstrated that FE is also required for transcriptional activation of FLOWERING LOCUS T INTERACTING PROTEIN 1 (FTIP1), an essential regulator for selective trafficking of the FT protein from companion cells to sieve elements. These findings indicate that FE plays a dual role in the photoperiodic induction of flowering: as a transcriptional activator of FT on the one hand, and its transport machinery component, FTIP1, on the other hand. Thus, FE is likely to play a role in regulating FT by coordinating FT synthesis and FT transport in phloem companion cells.

  5. COMMON POLYMORPHISMS AT THE CYP17A1 LOCUS ASSOCIATE WITH STEROID PHENOTYPE: SUPPORT FOR BLOOD PRESSURE GWAS SIGNALS AT THIS LOCUS

    PubMed Central

    Fraser, Robert; McManus, Frances; Freel, E. Marie; Alvarez-Madrazo, Samantha; McClure, John D.; Friel, Elaine C.; Hanley, Neil A.; Dominiczak, Anna F.; Caulfield, Mark J.; Munroe, Patricia B.; Connell, John M.; Davies, Eleanor

    2016-01-01

    Genome-wide association studies (GWAS) implicate the CYP17A1 gene in human blood pressure regulation although the causative polymorphisms are as yet unknown. We sought to identify common polymorphisms likely to explain this association. We sequenced the CYP17A1 locus in 60 normotensive individuals and observed 24 previously identified single nucleotide polymorphisms with minor allele frequency >0.05. From these, we selected for further study 7 polymorphisms located up to 2 kilobases upstream of the CYP17A1 transcription start site. In vitro reporter gene assays identified three of these (rs138009835, rs2150927 and rs2486758) as having significant functional effects. We then analysed association between the 7 polymorphisms and urinary steroid metabolites in a hypertensive cohort (n=232). Significant associations included that of rs138009835 with aldosterone metabolite excretion; rs2150927 associated with the ratio of tetrahydrodeoxycorticosterone to tetrahydrodeoxycortisol, which we employed as an index of 17α-hydroxylation. Linkage analysis showed rs138009835 to be the only one of the 7 polymorphisms in strong linkage disequilibrium with the blood pressure-associated polymorphisms identified in previous studies. In conclusion, we have identified, characterised and investigated common polymorphisms at the CYP17A1 locus that have functional effects on gene transcription in vitro and associate with corticosteroid phenotype in vivo. Of these, rs138009835 – which we associate with changes in aldosterone level – is in strong linkage disequilibrium with polymorphisms linked by genome-wide association studies to blood pressure regulation. This finding clearly has implications for the development of high blood pressure in a large proportion of the population and justifies further investigation of rs138009835 and its effects. PMID:26902494

  6. A 6.4MB duplication of the alpha-synuclein locus causing fronto-temporal dementia and parkinsonism - phenotype-genotype correlations

    PubMed Central

    Kara, Eleanna; Kiely, Aoife P; Proukakis, Christos; Giffin, Nicola; Love, Seth; Hehir, Jason; Rantell, Khadija; Pandraud, Amelie; Hernandez, Dena G; Nacheva, Elizabeth; Pittman, Alan M; Nalls, Mike A; Singleton, Andrew B; Revesz, Tamas; Bhatia, Kailash P; Quinn, Niall; Hardy, John; Holton, Janice L; Houlden, Henry

    2015-01-01

    . Conclusions and relevance These findings further expand the phenotypic spectrum of SNCA locus duplications. Increased dosage of genes located within the duplicated region probably cannot increase disease risk and disease severity without the contribution of additional risk factors. Identification of disease modifiers accounting for the substantial phenotypic heterogeneity of patients with SNCA locus duplications could provide insight into molecular events involved in α-synuclein aggregation. PMID:25003242

  7. Contactin 4 as a Possible Autism Susceptibility Locus

    DTIC Science & Technology

    2011-01-27

    using a carefully phenotyped local registry of autism families (CORA*) with DNA samples collected at Nationwide Children’s Hospital and WPAFB...Central Ohio Registry for Autism 3 2011 MHS Conference BACKGROUND: CORA – Recruit 250-300 carefully phenotyped probands with ASD + family members...Sharing Knowledge: Achieving Breakthrough Performance 2010 Military Health System Conference CONTACTIN 4 AS A POSSIBLE AUTISM SUSCEPTIBILITY LOCUS

  8. Mechanisms Underlying the Breast Cancer Susceptibility Locus Mcs5a

    DTIC Science & Technology

    2010-07-01

    Mcs5a2) down regulates the expression of the Fbxo10 gene in the T cells and that this reduced expression is associated with reduced mammary tumor...in primary T cells is conserved between rat and human. We demonstrate that the function of the non-coding Mcs5a locus likely is repressive gene ...regulation. We present a model that begins to explain how the Fbxo10 gene could be regulated in T cells. 15. SUBJECT TERMS mammary carcinogenesis

  9. Pressure sore survey. Part 3: Locus of control.

    PubMed

    Maylor, M; Torrance, C

    1999-03-01

    This is the third in a three-part article which investigates the prevalence, knowledge and attitudes to pressure sores in one NHS trust. This study describes the methodology used in choosing and developing attitude scales to explore whether there are any relationships between the locus of control and pressure sore prevention. Factors to do with attitude and the value associated with pressure sore prevention have a central role. Attitudes and beliefs affect what we do and may contribute to pressure sore development.

  10. Interarticulator phasing, locus equations, and degree of coarticulation

    PubMed Central

    Löfqvist, Anders

    2010-01-01

    A locus equation plots the frequency of the second formant at vowel onset against the target frequency of the same formant for the vowel in a consonant–vowel sequence, across different vowel contexts. It has generally been assumed that the slope of the locus equation reflects the degree of coarticulation between the consonant and the vowel, with a steeper slope showing more coarticulation. This study examined the articulatory basis for this assumption. Four subjects participated and produced VCV sequences of the consonants /b, d, g/ and the vowels /i, a, u/. The movements of the tongue and the lips were recorded using a magnetometer system. One articulatory measure was the temporal phasing between the onset of the lip closing movement for the bilabial consonant and the onset of the tongue movement from the first to the second vowel in a VCV sequence. A second measure was the magnitude of the tongue movement during the oral stop closure, averaged across four receivers on the tongue. A third measure was the magnitude of the tongue movement from the onset of the second vowel to the tongue position for that vowel. When compared with the corresponding locus equations, no measure showed any support for the assumption that the slope serves as an index of the degree of coarticulation between the consonant and the vowel. PMID:10530025

  11. Genetic analysis of the claret locus of Drosophila melanogaster

    SciTech Connect

    Sequeira, W.; Nelson, C.R.; Szauter, P. )

    1989-11-01

    The claret (ca) locus of Drosophila melanogaster comprises two separately mutable domains, one responsible for eye color and one responsible for proper disjunction of chromosomes in meiosis and early cleavage divisions. Previously isolated alleles are of three types: (1) alleles of the claret (ca) type that affect eye color only, (2) alleles of the claret-nondisjunctional (ca{sup nd}) type that affect eye color and chromosome behavior, and (3) a meiotic mutation, non-claret disjunctional (ncd), that affects chromosome behavior only. In order to investigate the genetic structure of the claret locus, the authors have isolated 19 radiation-induced alleles of claret on the basis of the eye color phenotype. Two of these 19 new alleles are of the ca{sup nd} type, while 17 are of the ca type, demonstrating that the two domains do not often act as a single target for mutagenesis. This suggests that the two separately mutable functions are likely to be encoded by separate or overlapping genes rather than by a single gene. One of the new alleles of the ca{sup nd} type is a chromosome rearrangement with a breakpoint at the position of the claret locus. If this breakpoint is the cause of the mutant phenotype and there are no other mutations associated with the rearrangement, the two functions must be encoded by overlapping genes.

  12. Genomic characterization of the Atlantic cod sex-locus

    PubMed Central

    Star, Bastiaan; Tørresen, Ole K.; Nederbragt, Alexander J.; Jakobsen, Kjetill S.; Pampoulie, Christophe; Jentoft, Sissel

    2016-01-01

    A variety of sex determination mechanisms can be observed in evolutionary divergent teleosts. Sex determination is genetic in Atlantic cod (Gadus morhua), however the genomic location or size of its sex-locus is unknown. Here, we characterize the sex-locus of Atlantic cod using whole genome sequence (WGS) data of 227 wild-caught specimens. Analyzing more than 55 million polymorphic loci, we identify 166 loci that are associated with sex. These loci are located in six distinct regions on five different linkage groups (LG) in the genome. The largest of these regions, an approximately 55 Kb region on LG11, contains the majority of genotypes that segregate closely according to a XX-XY system. Genotypes in this region can be used genetically determine sex, whereas those in the other regions are inconsistently sex-linked. The identified region on LG11 and its surrounding genes have no clear sequence homology with genes or regulatory elements associated with sex-determination or differentiation in other species. The functionality of this sex-locus therefore remains unknown. The WGS strategy used here proved adequate for detecting the small regions associated with sex in this species. Our results highlight the evolutionary flexibility in genomic architecture underlying teleost sex-determination and allow practical applications to genetically sex Atlantic cod. PMID:27499266

  13. Population genetics of the HRAS1 minisatellite locus

    SciTech Connect

    Devlin, B.; Risch, N. ); Krontiris, T. New England Medical Center Hospital, Boston, MA )

    1993-12-01

    Several years ago it was reported that rare HRAS1 VNTR alleles occurred more frequently in US Caucasian cancer patients than in unaffected controls. Such an association, in theory, could be caused by undetected population heterogeneity. Also, in a study clearly relevant to this issue, it was recently reported that significant deviations from Hardy-Weinberg equilibrium exist at this locus in a sample of US Caucasians. These considerations motivate population genetic analysis of the HRAS1 locus. From published studies of the HRAS1 VNTR locus, which classified alleles into types, the authors found only small differences in the allele frequency distributions of samples from various European nations, although there were larger differences among ethnic groups (African American, Caucasian, and Oriental). In an analysis of variation of rare-allele frequencies among samples from four European nations, most of the variance was attributable to molecular methodology, and very little of the variance was accounted for by nationality. In addition, the authors showed that mixture of European subpopulations should result in only minor deviations from expected genotype proportions in a Caucasian database and demonstrated that there was no significant deviation from Hardy-Weinberg equilibrium in the HRAS1 data. 35 refs., 4 tabs.

  14. Characterization of frequently deleted 6q locus in prostate cancer.

    PubMed

    Sun, Mei; Srikantan, Vasantha; Ma, Lanfeng; Li, Jia; Zhang, Wei; Petrovics, Gyorgy; Makarem, Mazen; Strovel, Jeffrey W; Horrigan, Stephen G; Augustus, Meena; Sesterhenn, Isabell A; Moul, Judd W; Chandrasekharappa, Settara; Zou, Zhiqiang; Srivastava, Shiv

    2006-11-01

    The long arm of chromosome 6 is frequently deleted in diverse human neoplasms. Our previous study showed a minimum deletion region between markers D6S1056 and D6S300 on chromosome 6q in primary prostate cancer (CaP). In this study, we further refined a 200-kb minimal region of deletion (6qTSG1) centered around D6S1013 marker. The 6qTSG1 transcripts contained complex multiple splicing variants with low or absent expression in CaP cells. None of the transcripts identified contained open reading frames that code for a protein in the NCBI database. The expression of 6qTSG transcripts revealed interesting hormonal regulation relevant to CaP biology. Expression of 6q TSG transcript was induced in LNCaP cells that were cultured in charcoal-stripped serum medium suggesting an upregulation of 6qTSG transcript by androgen ablation and cell growth inhibition/apoptosis. Induction of 6qTSG1 expression in response to androgen ablation was abrogated in androgen-independent derivatives of LNCaP cells. In summary, we have defined a candidate CaP suppressor locus on chromosome 6q16.1, and deletions of this locus are frequently associated with prostate tumorigenesis. In the light of emerging role of noncoding RNAs in cancer biology including CaP, future investigations of 6qTSG11 locus is warranted.

  15. Transvection at the vestigial locus of Drosophila melanogaster.

    PubMed

    Coulthard, Alistair B; Nolan, Nadia; Bell, John B; Hilliker, Arthur J

    2005-08-01

    Transvection is a phenomenon wherein gene expression is effected by the interaction of alleles in trans and often results in partial complementation between mutant alleles. Transvection is dependent upon somatic pairing between homologous chromosome regions and is a form of interallelic complementation that does not occur at the polypeptide level. In this study we demonstrated that transvection could occur at the vestigial (vg) locus by revealing that partial complementation between two vg mutant alleles could be disrupted by changing the genomic location of the alleles through chromosome rearrangement. If chromosome rearrangements affect transvection by disrupting somatic pairing, then combining chromosome rearrangements that restore somatic pairing should restore transvection. We were able to restore partial complementation in numerous rearrangement trans-heterozygotes, thus providing substantial evidence that the observed complementation at vg results from a transvection effect. Cytological analyses revealed this transvection effect to have a large proximal critical region, a feature common to other transvection effects. In the Drosophila interphase nucleus, paired chromosome arms are separated into distinct, nonoverlapping domains. We propose that if the relative position of each arm in the nucleus is determined by the centromere as a relic of chromosome positions after the last mitotic division, then a locus will be displaced to a different territory of the interphase nucleus relative to its nonrearranged homolog by any rearrangement that links that locus to a different centromere. This physical displacement in the nucleus hinders transvection by disrupting the somatic pairing of homologous chromosomes and gives rise to proximal critical regions.

  16. Congenic mapping and sequence analysis of the Renin locus

    PubMed Central

    Flister, Michael J.; Hoffman, Matthew J.; Reddy, Prajwal; Jacob, Howard J.; Moreno, Carol

    2013-01-01

    Renin was the first blood pressure (BP) quantitative trait locus (QTL) mapped by linkage analysis in the rat. Subsequent BP linkage and congenic studies capturing different portions of the renin region have returned conflicting results, suggesting that multiple interdependent BP loci may be residing in the chromosome 13 BP QTL that includes Renin. We used SS-13BN congenic strains to map 2 BP loci in the Renin region (chr13:45.2–49.0 Mb). We identified a 1.1 Mb protective Brown Norway (BN) region around Renin (chr13:46.1–47.2 Mb) that significantly decreased BP by 32 mmHg. The Renin protective BP locus was offset by an adjacent hypertensive locus (chr13:47.2–49.0 Mb) that significantly increased BP by 29 mmHg. Sequence analysis of the protective and hypertensive BP loci revealed 1,433 and 2,063 variants between Dahl salt-sensitive/Mcwi (SS) and BN rats, respectively. To further reduce the list of candidate variants, we re-genotyped an overlapping SS-13SR congenic strain (S/renrr) with a previously reported BP phenotype. Sequence comparison between SS, Dahl R (SR), and BN reduced the number of candidate variants in the 2 BP loci by 42% for further study. Combined with previous studies, these data suggest that at least 4 BP loci reside within the 30 cM chromosome 13 BP QTL that includes Renin. PMID:23460292

  17. The SCL gene is formed from a transcriptionally complex locus.

    PubMed Central

    Aplan, P D; Begley, C G; Bertness, V; Nussmeier, M; Ezquerra, A; Coligan, J; Kirsch, I R

    1990-01-01

    We describe the structural organization of the human SCL gene, a helix-loop-helix family member which we believe plays a fundamental role in hematopoietic differentiation. The SCL locus is composed of eight exons distributed over 16 kb. SCL shows a pattern of expression quite restricted to early hematopoietic tissues, although in malignant states expression of the gene may be somewhat extended into later developmental stages. A detailed analysis of the transcript(s) arising from the SCL locus revealed that (i) the 5' noncoding portion of the SCL transcript, which resides within a CpG island, has a complex pattern of alternative exon utilization as well as two distinct transcription initiation sites; (ii) the 5' portions of the SCL transcript contain features that suggest a possible regulatory role for these segments; (iii) the pattern of utilization of the 5' exons is cell lineage dependent; and (iv) all of the currently studied chromosomal aberrations that affect the SCL locus either structurally or functionally eliminate the normal 5' transcription initiation sites. These data suggest that the SCL gene, and specifically its 5' region, may be a target for regulatory interactions during early hematopoietic development. Images PMID:2247063

  18. Interarticulator phasing, locus equations, and degree of coarticulation.

    PubMed

    Löfqvist, A

    1999-10-01

    A locus equation plots the frequency of the second formant at vowel onset against the target frequency of the same formant for the vowel in a consonant-vowel sequence, across different vowel contexts. It has generally been assumed that the slope of the locus equation reflects the degree of coarticulation between the consonant and the vowel, with a steeper slope showing more coarticulation. This study examined the articulatory basis for this assumption. Four subjects participated and produced VCV sequences of the consonants /b, d, g/ and the vowels /i, a, u/. The movements of the tongue and the lips were recorded using a magnetometer system. One articulatory measure was the temporal phasing between the onset of the lip closing movement for the bilabial consonant and the onset of the tongue movement from the first to the second vowel in a VCV sequence. A second measure was the magnitude of the tongue movement during the oral stop closure, averaged across four receivers on the tongue. A third measure was the magnitude of the tongue movement from the onset of the second vowel to the tongue position for that vowel. When compared with the corresponding locus equations, no measure showed any support for the assumption that the slope serves as an index of the degree of coarticulation between the consonant and the vowel.

  19. The Effects of Locus of Control and Task Difficulty on Procrastination.

    PubMed

    Janssen, Tracy; Carton, John S

    1999-12-01

    The authors investigated the effects of locus of control expectancies and task difficulty on procrastination. Forty-two college students were administered an academic locus of control scale and a task that was similar to a typical college homework assignment. The students were randomly assigned to 1 of 2 task difficulty levels. Although none of the results involving task difficulty was significant, several results involving locus of control were significant. Specifically, analyses revealed that students with internal locus of control expectancies tended to begin working on the assignment sooner than students with external locus of control expectancies. In addition, students with internal locus of control completed and returned the assignment sooner than students with external locus of control. The results are discussed within the context of J. B. Rotter's (1966, 1975, 1982) social learning theory.

  20. 'Locus of control', health-related quality of life, emotional distress and disability in Parkinson's disease.

    PubMed

    Rizza, Federica; Gison, Annalisa; Bonassi, Stefano; Dall'Armi, Valentina; Tonto, Francesca; Giaquinto, Salvatore

    2017-06-01

    This cross-sectional study evaluated locus of control and its subscales in Parkinson's disease. A total of 50 consecutive Parkinson's disease participants and 50 healthy volunteers (control group) were enrolled. External locus of control was significantly higher in Parkinson's disease participants, whereas internal locus of control had no significant differences. External locus of control and internal locus of control were correlated in control group, but not in Parkinson's disease. In Parkinson's disease participants, external locus of control was negatively associated with health-related quality of life as well as positively associated with emotional distress and disease severity (but not with disability). After adjusting to confound variables, the associations remained. On the other hand, internal locus of control was negatively associated with depression.

  1. High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus

    PubMed Central

    Zonana, J.; Jones, M.; Browne, D.; Litt, M.; Kramer, P.; Becker, H. W.; Brockdorff, N.; Rastan, S.; Davies, K. P.; Clarke, A.; Thomas, N. S. T.

    1992-01-01

    The X-linked hypohidrotic ectodermal dysplasia (EDA) locus has been previously localized to the subchromosomal region Xq11-q21.1. We have extended our previous linkage studies and analyzed linkage between the EDA locus and 10 marker loci, including five new loci, in 41 families. Four of the marker loci showed no recombination with the EDA locus, and six other loci were also linked to the EDA locus with recombination fractions of .009–.075. Multipoint analyses gave support to the placement of the PGK1P1 locus proximal to the EDA locus and the DXS453 and PGK1 loci distal to EDA. Further ordering of the loci could be inferred from a human/rodent somatic cell hybrid derived from an affected female with EDA and an X;9 translocation and from studies of an affected male with EDA and a submicroscopic deletion. Three of the proximal marker loci, which showed no recombination with the EDA locus, when used in combination, were informative in 92% of females. The closely linked flanking polymorphic loci DXS339 and DXS453 had heterozygosities of 72% and 76%, respectively, and when used jointly, they were doubly informative in 52% of females. The human DXS732 locus was defined by a conserved mouse probe pcos169E/4 (DXCrc169 locus) that cosegregates with the mouse tabby (Ta) locus, a potential homologue to the EDA locus. The absence of recombination between EDA and the DXS732 locus lends support to the hypothesis that the DXCrc169 locus in the mouse and the DXS732 locus in humans may contain candidate sequences for the Ta and EDA genes, respectively. PMID:1357963

  2. High-resolution mapping of the x-linked hypohidrotic ectodermal dysplasia (EDA) locus

    SciTech Connect

    Zonana, J.; Jones, M.; Litt, M.; Kramer, P.; Browne, D.; Becker, H.W. ); Brockdorff, N.; Rastan, S. ); Davies, K.P.; Clarke, A. )

    1992-11-01

    The X-linked hypohidrotic ectodermal dysplasia (EDA) locus has been previously localized to the subchromosomal region Xq11-q21.1. The authors have extended previous linkage studies and analyzed linkage between the EDA locus and 10 marker loci, including five new loci, in 41 families. Four of the marker loci showed no recombination with the EDA locus, and six other loci were also linked to the EDA locus with recombination fractions of .009-.075. Multipoint analysis gave support to the placement of the PGK1P1 locus proximal to the EDA locus and the DXS453 and PGK1 loci distal to EDA. Further ordering of the loci could be inferred from a human-rodent somatic cell hybrid derived from an affected female with EDA and an X;9 translocation and from studies of an affected male with EDA and a submicroscopic deletion. Three of the proximal marker loci, which showed no recombination with the EDA locus, when used in combination, were informative in 92% of females. The closely linked flanking polymorphic loci DXS339 and DXS453 had heterozygosites of 72% and 76%, respectively, and when used jointly, they were doubly informative in 52% of females. The human DXS732 locus was defined by a conserved mouse probe pcos169E/4 (DXCrc169 locus) that consegregates with the mouse tabby (Ta) locus, a potential homologue to the EDA locus. The absence of recombination between EDA and the DXSA732 locus lends support to the hypothesis that the DXCrc169 locus in the mouse and the DXS732 locus in humans may contain candidate sequences for the Ta and EDA genes, respectively. 36 refs., 1 fig., 5 tabs.

  3. Finding Dental Care

    MedlinePlus

    ... Finding Dental Care Where can I find low-cost dental care? Dental schools often have clinics that allow dental ... can I find more information? See Finding Low Cost Dental Care . ​​​​ WWNRightboxRadEditor2 Contact Us 1-866-232-4528 nidcrinfo@ ...

  4. Reducing alcohol-related aggression: Effects of a self-awareness manipulation and locus of control in heavy drinking males.

    PubMed

    Purvis, Danielle M; Gallagher, Kathryn E; Parrott, Dominic J

    2016-07-01

    Alcohol Myopia Theory (AMT; Steele & Josephs, 1990) purports that alcohol facilitates aggression by narrowing attentional focus onto salient and instigatory cues common to conflict situations. However, few tests of its counterintuitive prediction - that alcohol may decrease aggression when inhibitory cues are most salient - have been conducted. The present study examined whether an AMT-inspired self-awareness intervention manipulation would reduce heavy drinking men's intoxicated aggression toward women and also examined whether a relevant individual variable, locus of control, would moderate this effect. Participants were 102 intoxicated male heavy drinkers who completed a self-report measure of locus of control and completed the Taylor Aggression Paradigm (Taylor, 1967). In this task, participants administered electric shocks to, and received electric shocks from, a fictitious female opponent while exposed to an environment saturated with or devoid of self-awareness cues. Results indicated that the self-awareness manipulation was associated with less alcohol-related aggression toward the female confederate for men who reported an internal, but not an external, locus of control. Findings support AMT as a theoretical framework to inform preventative interventions for alcohol-related aggression and highlight the importance of individual differences in receptivity to such interventions.

  5. The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure.

    PubMed

    Scerri, Thomas S; Darki, Fahimeh; Newbury, Dianne F; Whitehouse, Andrew J O; Peyrard-Janvid, Myriam; Matsson, Hans; Ang, Qi W; Pennell, Craig E; Ring, Susan; Stein, John; Morris, Andrew P; Monaco, Anthony P; Kere, Juha; Talcott, Joel B; Klingberg, Torkel; Paracchini, Silvia

    2012-01-01

    Independent studies have shown that candidate genes for dyslexia and specific language impairment (SLI) impact upon reading/language-specific traits in the general population. To further explore the effect of disorder-associated genes on cognitive functions, we investigated whether they play a role in broader cognitive traits. We tested a panel of dyslexia and SLI genetic risk factors for association with two measures of general cognitive abilities, or IQ, (verbal and non-verbal) in the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort (N>5,000). Only the MRPL19/C2ORF3 locus showed statistically significant association (minimum P = 0.00009) which was further supported by independent replications following analysis in four other cohorts. In addition, a fifth independent sample showed association between the MRPL19/C2ORF3 locus and white matter structure in the posterior part of the corpus callosum and cingulum, connecting large parts of the cortex in the parietal, occipital and temporal lobes. These findings suggest that this locus, originally identified as being associated with dyslexia, is likely to harbour genetic variants associated with general cognitive abilities by influencing white matter structure in localised neuronal regions.

  6. The Dyslexia Candidate Locus on 2p12 Is Associated with General Cognitive Ability and White Matter Structure

    PubMed Central

    Scerri, Thomas S.; Darki, Fahimeh; Newbury, Dianne F.; Whitehouse, Andrew J. O.; Peyrard-Janvid, Myriam; Matsson, Hans; Ang, Qi W.; Pennell, Craig E.; Ring, Susan; Stein, John; Morris, Andrew P.; Monaco, Anthony P.; Kere, Juha; Talcott, Joel B.; Klingberg, Torkel; Paracchini, Silvia

    2012-01-01

    Independent studies have shown that candidate genes for dyslexia and specific language impairment (SLI) impact upon reading/language-specific traits in the general population. To further explore the effect of disorder-associated genes on cognitive functions, we investigated whether they play a role in broader cognitive traits. We tested a panel of dyslexia and SLI genetic risk factors for association with two measures of general cognitive abilities, or IQ, (verbal and non-verbal) in the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort (N>5,000). Only the MRPL19/C2ORF3 locus showed statistically significant association (minimum P = 0.00009) which was further supported by independent replications following analysis in four other cohorts. In addition, a fifth independent sample showed association between the MRPL19/C2ORF3 locus and white matter structure in the posterior part of the corpus callosum and cingulum, connecting large parts of the cortex in the parietal, occipital and temporal lobes. These findings suggest that this locus, originally identified as being associated with dyslexia, is likely to harbour genetic variants associated with general cognitive abilities by influencing white matter structure in localised neuronal regions. PMID:23209710

  7. FHSA-SED: Two-Locus Model Detection for Genome-Wide Association Study with Harmony Search Algorithm.

    PubMed

    Tuo, Shouheng; Zhang, Junying; Yuan, Xiguo; Zhang, Yuanyuan; Liu, Zhaowen

    2016-01-01

    Two-locus model is a typical significant disease model to be identified in genome-wide association study (GWAS). Due to intensive computational burden and diversity of disease models, existing methods have drawbacks on low detection power, high computation cost, and preference for some types of disease models. In this study, two scoring functions (Bayesian network based K2-score and Gini-score) are used for characterizing two SNP locus as a candidate model, the two criteria are adopted simultaneously for improving identification power and tackling the preference problem to disease models. Harmony search algorithm (HSA) is improved for quickly finding the most likely candidate models among all two-locus models, in which a local search algorithm with two-dimensional tabu table is presented to avoid repeatedly evaluating some disease models that have strong marginal effect. Finally G-test statistic is used to further test the candidate models. We investigate our method named FHSA-SED on 82 simulated datasets and a real AMD dataset, and compare it with two typical methods (MACOED and CSE) which have been developed recently based on swarm intelligent search algorithm. The results of simulation experiments indicate that our method outperforms the two compared algorithms in terms of detection power, computation time, evaluation times, sensitivity (TPR), specificity (SPC), positive predictive value (PPV) and accuracy (ACC). Our method has identified two SNPs (rs3775652 and rs10511467) that may be also associated with disease in AMD dataset.

  8. FHSA-SED: Two-Locus Model Detection for Genome-Wide Association Study with Harmony Search Algorithm

    PubMed Central

    Tuo, Shouheng; Zhang, Junying; Yuan, Xiguo; Zhang, Yuanyuan; Liu, Zhaowen

    2016-01-01

    Motivation Two-locus model is a typical significant disease model to be identified in genome-wide association study (GWAS). Due to intensive computational burden and diversity of disease models, existing methods have drawbacks on low detection power, high computation cost, and preference for some types of disease models. Method In this study, two scoring functions (Bayesian network based K2-score and Gini-score) are used for characterizing two SNP locus as a candidate model, the two criteria are adopted simultaneously for improving identification power and tackling the preference problem to disease models. Harmony search algorithm (HSA) is improved for quickly finding the most likely candidate models among all two-locus models, in which a local search algorithm with two-dimensional tabu table is presented to avoid repeatedly evaluating some disease models that have strong marginal effect. Finally G-test statistic is used to further test the candidate models. Results We investigate our method named FHSA-SED on 82 simulated datasets and a real AMD dataset, and compare it with two typical methods (MACOED and CSE) which have been developed recently based on swarm intelligent search algorithm. The results of simulation experiments indicate that our method outperforms the two compared algorithms in terms of detection power, computation time, evaluation times, sensitivity (TPR), specificity (SPC), positive predictive value (PPV) and accuracy (ACC). Our method has identified two SNPs (rs3775652 and rs10511467) that may be also associated with disease in AMD dataset. PMID:27014873

  9. Reducing Alcohol-Related Aggression: Effects of a Self-Awareness Manipulation and Locus of Control in Heavy Drinking Males

    PubMed Central

    Purvis, Danielle M.; Gallagher, Kathryn E.; Parrott, Dominic J.

    2016-01-01

    Alcohol Myopia Theory (AMT; Steele & Josephs, 1990) purports that alcohol facilitates aggression by narrowing attentional focus onto salient and instigatory cues common to conflict situations. However, few tests of its counterintuitive prediction – that alcohol may decrease aggression when inhibitory cues are most salient – have been conducted. The present study examined whether an AMT-inspired self-awareness intervention manipulation would reduce heavy drinking men’s intoxicated aggression toward women and also examined whether a relevant individual variable, locus of control, would moderate this effect. Participants were 102 intoxicated male heavy drinkers who completed a self-report measure of locus of control and completed the Taylor Aggression Paradigm (Taylor, 1967). In this task, participants administered electric shocks to, and received electric shocks from, a fictitious female opponent while exposed to an environment saturated with or devoid of self-awareness cues. Results indicated that the self-awareness manipulation was associated with less alcohol-related aggression toward the female confederate for men who reported an internal, but not an external, locus of control. Findings support AMT as a theoretical framework to inform preventative interventions for alcohol-related aggression and highlight the importance of individual differences in receptivity to such interventions. PMID:26905761

  10. Work stress and depression among direct support professionals: the role of work support and locus of control

    PubMed Central

    Gray-Stanley, J. A.; Muramatsu, N.; Heller, T.; Hughes, S.; Johnson, T. P.; Ramirez-Valles, J.

    2013-01-01

    Background Although work stress can impede the capacity of direct support professionals and contribute to mental health challenges, external (i.e. work social support) and internal resources (i.e. an internal locus of control) have been shown to help DSPs cope more actively. We examined how work stress was associated with depression, with a particular focus on the role of resources. Method Direct support professionals (n = 323) who serve adults with intellectual and developmental disabilities from five community-based organisations completed a cross-sectional, self-administered survey which measured work stress, work support, locus of control, and depression. Results Multiple regression analyses demonstrated that work stress was positively associated with depression, while resources were negatively associated with depression. In particular, work support moderated the effects of client disability stress, supervisory support lessened the effects of role conflict, and locus of control moderated the effects of workload. Conclusions Such findings suggest the importance of external and internal resources for staff mental health. This research underscores the need for strong work social support systems and interventions to help staff manage work stressors. PMID:20633203

  11. Work stress and depression among direct support professionals: the role of work support and locus of control.

    PubMed

    Gray-Stanley, J A; Muramatsu, N; Heller, T; Hughes, S; Johnson, T P; Ramirez-Valles, J

    2010-08-01

    Although work stress can impede the capacity of direct support professionals and contribute to mental health challenges, external (i.e. work social support) and internal resources (i.e. an internal locus of control) have been shown to help DSPs cope more actively. We examined how work stress was associated with depression, with a particular focus on the role of resources. Direct support professionals (n = 323) who serve adults with intellectual and developmental disabilities from five community-based organisations completed a cross-sectional, self-administered survey which measured work stress, work support, locus of control, and depression. Multiple regression analyses demonstrated that work stress was positively associated with depression, while resources were negatively associated with depression. In particular, work support moderated the effects of client disability stress, supervisory support lessened the effects of role conflict, and locus of control moderated the effects of workload. Such findings suggest the importance of external and internal resources for staff mental health. This research underscores the need for strong work social support systems and interventions to help staff manage work stressors.

  12. Health-related locus of control and health behaviour among university students in North Rhine Westphalia, Germany.

    PubMed

    Helmer, Stefanie M; Krämer, Alexander; Mikolajczyk, Rafael T

    2012-12-29

    Health control beliefs were postulated to be associated with health behaviour. However, the results of studies assessing these associations suggest that they might not be universal. Among young adults associations have been reported, but the evidence is limited. The objective of this analysis was to re-examine these associations in a sample of university students in Germany. Data from a multicentre cross-sectional study among university students in North Rhine-Westphalia, Germany was used (N=3,306). The Multidimensional Health Locus of Control Scale with three dimensions (one internal and two external) and six aspects of health behaviour (smoking habits, alcohol use, drug consumption, being over-/ or underweight, physical activity, and importance of healthy nutrition) were evaluated. Students with stronger internal locus of control paid more attention to healthy nutrition and displayed a higher level of physical activity. Individuals with a stronger belief in health professionals were less likely to use drugs and paid more attention to healthy nutrition. Furthermore, higher scores in the second external locus of control dimension (beliefs in luck or chance) were associated with a higher likelihood of current smoking, lower physical activity and less attention to healthy nutrition. Students engaged more strongly in unhealthy behaviour if they believed that luck determines health. In contrast, believing in having control over one's own health was associated with more healthy behaviour. These findings support the need to consider health control beliefs while designing preventive strategies in this specific population.

  13. The highly recombinogenic bz locus lies in an unusually gene-rich region of the maize genome.

    PubMed

    Fu, H; Park, W; Yan, X; Zheng, Z; Shen, B; Dooner, H K

    2001-07-17

    The bronze (bz) locus exhibits the highest rate of recombination of any gene in higher plants. To investigate the possible basis of this high rate of recombination, we have analyzed the physical organization of the region around the bz locus. Two adjacent bacterial artificial chromosome clones, comprising a 240-kb contig centered around the Bz-McC allele, were isolated, and 60 kb of contiguous DNA spanning the two bacterial artificial chromosome clones was sequenced. We find that the bz locus lies in an unusually gene-rich region of the maize genome. Ten genes, at least eight of which are shown to be transcribed, are contained in a 32-kb stretch of DNA that is uninterrupted by retrotransposons. We have isolated nearly full length cDNAs corresponding to the five proximal genes in the cluster. The average intertranscript distance between them is just 1 kb, revealing a surprisingly compact packaging of adjacent genes in this part of the genome. At least 11 small insertions, including several previously described miniature inverted repeat transposable elements, were detected in the introns and 3' untranslated regions of genes and between genes. The gene-rich region is flanked at the proximal and distal ends by retrotransposon blocks. Thus, the maize genome appears to have scattered regions of high gene density similar to those found in other plants. The unusually high rate of intragenic recombination seen in bz may be related to the very high gene density of the region.

  14. Meta analysis of candidate gene variants outside the LPA locus with Lp(a) plasma levels in 14,500 participants of six White European cohorts.

    PubMed

    Zabaneh, Delilah; Kumari, Meena; Sandhu, Manj; Wareham, Nick; Wainwright, Nick; Papamarkou, Theodore; Hopewell, Jemma; Clarke, Robert; Li, KaWah; Palmen, Jutta; Talmud, Philippa J; Kronenberg, Florian; Lamina, Claudia; Summerer, Monika; Paulweber, Bernhard; Price, Jackie; Fowkes, Gerry; Stewart, Marlene; Drenos, Fotios; Shah, Sonia; Shah, Tina; Casas, Juan-Pablo; Kivimaki, Mika; Whittaker, John; Hingorani, Aroon D; Humphries, Steve E

    2011-08-01

    Both genome-wide association studies and candidate gene studies have reported that the major determinant of plasma levels of the Lipoprotein (a) [Lp(a)] reside within the LPA locus on chromosome 6. We have used data from the HumanCVD BeadChip to explore the contribution of other candidate genes determining Lp(a) levels. 48,032 single nucleotide polymorphisms (SNPs) from the Illumina HumanCVD BeadChip were genotyped in 5059 participants of the Whitehall II study (WHII) of randomly ascertained healthy men and women. SNPs showing association with Lp(a) levels of p<10(-4) outside the LPA locus were selected for replication in a total of an additional 9463 participants of five European based studies (EAS, EPIC-Norfolk, NPHSII, PROCARDIS, and SAPHIR). In Whitehall II, apart from the LPA locus (where p values for several SNPs were <10(-30)) there was significant association at four loci GALNT2, FABP1, PPARGC1A and TNFRSFF11A. However, a meta-analysis of the six studies did not confirm any of these findings. Results from this meta analysis of 14,522 participants revealed no candidate genes from the HumanCVD BeadChip outside the LPA locus to have an effect on Lp(a) levels. Further studies with genome-wide and denser SNP coverage are required to confirm or refute this finding. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  15. Meta analysis of candidate gene variants outside the LPA locus with Lp(a) plasma levels in 14,500 participants of six White European cohorts

    PubMed Central

    Zabaneh, Delilah; Kumari, Meena; Sandhu, Manj; Wareham, Nick; Wainwright, Nick; Papamarkou, Theodore; Hopewell, Jemma; Clarke, Robert; Li, KaWah; Palmen, Jutta; Talmud, Philippa J; Kronenberg, Florian; Lamina, Claudia; Summerer, Monika; Paulweber, Bernhard; Price, Jackie; Fowkes, Gerry; Drenos, Marlene Stewart Fotios; Shah, Sonia; Shah, Tina; Casas, Juan Pablo; Kivimaki, Mika; Whittaker, John; Hingorani, Aroon D

    2014-01-01

    Background Both genome-wide association studies and candidate gene studies have reported that the major determinant of plasma levels of the Lipoprotein (a) [Lp(a)] reside within the LPA locus on chromosome 6. We have used data from the Human CVD bead chip to explore the contribution of other candidate genes determining Lp(a) levels. Methods 48,032 single nucleotide polymorphisms (SNPs) from the Illumina Human CVD bead chip were genotyped in 5,059 participants of the Whitehall II study (WHII) of randomly ascertained healthy men and women. SNPs showing association with Lp(a) levels of p< 10−4 outside the LPA locus were selected for replication in a total of an additional 9,463 participants of five European based studies (EAS, EPIC-Norfolk, NPHSII, PROCARDIS, and SAPHIR) Results In Whitehall II, apart from the LPA locus (where p values for several SNPs were < 10−30) there was significant association at four loci GALNT2, FABP1, PPARGC1A and TNFRSFF11A. However, a meta-analysis of the six studies did not confirm any of these findings. Conclusion Results from this meta analysis of 14,522 participants revealed no candidate genes from the Human CVD bead chip outside the LPA locus to have an effect on Lp(a) levels. Further studies with genome-wide and denser SNP coverage are required to confirm or refute this finding. PMID:21592478

  16. A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups.

    PubMed

    Londono, Douglas; Kou, Ikuyo; Johnson, Todd A; Sharma, Swarkar; Ogura, Yoji; Tsunoda, Tatsuhiko; Takahashi, Atsushi; Matsumoto, Morio; Herring, John A; Lam, Tsz-Ping; Wang, Xingyan; Tam, Elisa M S; Song, You-Qiang; Fan, Yan-Hui; Chan, Danny; Cheah, Kathryn S E; Qiu, Xusheng; Jiang, Hua; Huang, Dongsheng; TSRHC IS Clinical Group; International Consortium for Scoliosis Genetics; Su, Peiqiang; Sham, Pak; Cheung, Kenneth M C; Luk, Keith D K; Gordon, Derek; Qiu, Yong; Cheng, Jack; Tang, Nelson; Ikegawa, Shiro; Wise, Carol A

    2014-06-01

    Adolescent idiopathic scoliosis (AIS) is a common rotational deformity of the spine that presents in children worldwide, yet its etiology is poorly understood. Recent genome-wide association studies (GWAS) have identified a few candidate risk loci. One locus near the chromosome 10q24.31 LBX1 gene (OMIM #604255) was originally identified by a GWAS of Japanese subjects and replicated in additional Asian populations. To extend this result, and to create larger AIS cohorts for the purpose of large-scale meta-analyses in multiple ethnicities, we formed a collaborative group called the International Consortium for Scoliosis Genetics (ICSG). Here, we report the first ICSG study, a meta-analysis of the LBX1 locus in six Asian and three non-Asian cohorts. We find significant evidence for association of this locus with AIS susceptibility in all nine cohorts. Results for seven cohorts containing both genders yielded P=1.22×10-43 for rs11190870, and P=2.94×10-48 for females in all nine cohorts. Comparing the regional haplotype structures for three populations, we refined the boundaries of association to a ∼25 kb block encompassing the LBX1 gene. The LBX1 protein, a homeobox transcription factor that is orthologous to the Drosophila ladybird late gene, is involved in proper migration of muscle precursor cells, specification of cardiac neural crest cells, and neuronal determination in developing neural tubes. Our results firmly establish the LBX1 region as the first major susceptibility locus for AIS in Asian and non-Hispanic white groups, and provide a platform for larger studies in additional ancestral groups. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  17. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

    PubMed

    Painter, Jodie N; O'Mara, Tracy A; Batra, Jyotsna; Cheng, Timothy; Lose, Felicity A; Dennis, Joe; Michailidou, Kyriaki; Tyrer, Jonathan P; Ahmed, Shahana; Ferguson, Kaltin; Healey, Catherine S; Kaufmann, Susanne; Hillman, Kristine M; Walpole, Carina; Moya, Leire; Pollock, Pamela; Jones, Angela; Howarth, Kimberley; Martin, Lynn; Gorman, Maggie; Hodgson, Shirley; De Polanco, Ma Magdalena Echeverry; Sans, Monica; Carracedo, Angel; Castellvi-Bel, Sergi; Rojas-Martinez, Augusto; Santos, Erika; Teixeira, Manuel R; Carvajal-Carmona, Luis; Shu, Xiao-Ou; Long, Jirong; Zheng, Wei; Xiang, Yong-Bing; Montgomery, Grant W; Webb, Penelope M; Scott, Rodney J; McEvoy, Mark; Attia, John; Holliday, Elizabeth; Martin, Nicholas G; Nyholt, Dale R; Henders, Anjali K; Fasching, Peter A; Hein, Alexander; Beckmann, Matthias W; Renner, Stefan P; Dörk, Thilo; Hillemanns, Peter; Dürst, Matthias; Runnebaum, Ingo; Lambrechts, Diether; Coenegrachts, Lieve; Schrauwen, Stefanie; Amant, Frederic; Winterhoff, Boris; Dowdy, Sean C; Goode, Ellen L; Teoman, Attila; Salvesen, Helga B; Trovik, Jone; Njolstad, Tormund S; Werner, Henrica M J; Ashton, Katie; Proietto, Tony; Otton, Geoffrey; Tzortzatos, Gerasimos; Mints, Miriam; Tham, Emma; Hall, Per; Czene, Kamila; Liu, Jianjun; Li, Jingmei; Hopper, John L; Southey, Melissa C; Ekici, Arif B; Ruebner, Matthias; Johnson, Nicola; Peto, Julian; Burwinkel, Barbara; Marme, Frederik; Brenner, Hermann; Dieffenbach, Aida K; Meindl, Alfons; Brauch, Hiltrud; Lindblom, Annika; Depreeuw, Jeroen; Moisse, Matthieu; Chang-Claude, Jenny; Rudolph, Anja; Couch, Fergus J; Olson, Janet E; Giles, Graham G; Bruinsma, Fiona; Cunningham, Julie M; Fridley, Brooke L; Børresen-Dale, Anne-Lise; Kristensen, Vessela N; Cox, Angela; Swerdlow, Anthony J; Orr, Nicholas; Bolla, Manjeet K; Wang, Qin; Weber, Rachel Palmieri; Chen, Zhihua; Shah, Mitul; French, Juliet D; Pharoah, Paul D P; Dunning, Alison M; Tomlinson, Ian; Easton, Douglas F; Edwards, Stacey L; Thompson, Deborah J; Spurdle, Amanda B

    2015-03-01

    Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of Type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or epigenetic effects on HNF1B gene expression. We previously found single-nucleotide polymorphisms (SNPs) at the HNF1B locus to be associated with endometrial cancer, and now report extensive fine-mapping and in silico and laboratory analyses of this locus. Analysis of 1184 genotyped and imputed SNPs in 6608 Caucasian cases and 37 925 controls, and 895 Asian cases and 1968 controls, revealed the best signal of association for SNP rs11263763 (P = 8.4 × 10(-14), odds ratio = 0.86, 95% confidence interval = 0.82-0.89), located within HNF1B intron 1. Haplotype analysis and conditional analyses provide no evidence of further independent endometrial cancer risk variants at this locus. SNP rs11263763 genotype was associated with HNF1B mRNA expression but not with HNF1B methylation in endometrial tumor samples from The Cancer Genome Atlas. Genetic analyses prioritized rs11263763 and four other SNPs in high-to-moderate linkage disequilibrium as the most likely causal SNPs. Three of these SNPs map to the extended HNF1B promoter based on chromatin marks extending from the minimal promoter region. Reporter assays demonstrated that this extended region reduces activity in combination with the minimal HNF1B promoter, and that the minor alleles of rs11263763 or rs8064454 are associated with decreased HNF1B promoter activity. Our findings provide evidence for a single signal associated with endometrial cancer risk at the HNF1B locus, and that risk is likely mediated via altered HNF1B gene expression. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

    PubMed Central

    Painter, Jodie N.; O'Mara, Tracy A.; Batra, Jyotsna; Cheng, Timothy; Lose, Felicity A.; Dennis, Joe; Michailidou, Kyriaki; Tyrer, Jonathan P.; Ahmed, Shahana; Ferguson, Kaltin; Healey, Catherine S.; Kaufmann, Susanne; Hillman, Kristine M.; Walpole, Carina; Moya, Leire; Pollock, Pamela; Jones, Angela; Howarth, Kimberley; Martin, Lynn; Gorman, Maggie; Hodgson, Shirley; De Polanco, Ma. Magdalena Echeverry; Sans, Monica; Carracedo, Angel; Castellvi-Bel, Sergi; Rojas-Martinez, Augusto; Santos, Erika; Teixeira, Manuel R.; Carvajal-Carmona, Luis; Shu, Xiao-Ou; Long, Jirong; Zheng, Wei; Xiang, Yong-Bing; Montgomery, Grant W.; Webb, Penelope M.; Scott, Rodney J.; McEvoy, Mark; Attia, John; Holliday, Elizabeth; Martin, Nicholas G.; Nyholt, Dale R.; Henders, Anjali K.; Fasching, Peter A.; Hein, Alexander; Beckmann, Matthias W.; Renner, Stefan P.; Dörk, Thilo; Hillemanns, Peter; Dürst, Matthias; Runnebaum, Ingo; Lambrechts, Diether; Coenegrachts, Lieve; Schrauwen, Stefanie; Amant, Frederic; Winterhoff, Boris; Dowdy, Sean C.; Goode, Ellen L.; Teoman, Attila; Salvesen, Helga B.; Trovik, Jone; Njolstad, Tormund S.; Werner, Henrica M.J.; Ashton, Katie; Proietto, Tony; Otton, Geoffrey; Tzortzatos, Gerasimos; Mints, Miriam; Tham, Emma; Hall, Per; Czene, Kamila; Liu, Jianjun; Li, Jingmei; Hopper, John L.; Southey, Melissa C.; Ekici, Arif B.; Ruebner, Matthias; Johnson, Nicola; Peto, Julian; Burwinkel, Barbara; Marme, Frederik; Brenner, Hermann; Dieffenbach, Aida K.; Meindl, Alfons; Brauch, Hiltrud; Lindblom, Annika; Depreeuw, Jeroen; Moisse, Matthieu; Chang-Claude, Jenny; Rudolph, Anja; Couch, Fergus J.; Olson, Janet E.; Giles, Graham G.; Bruinsma, Fiona; Cunningham, Julie M.; Fridley, Brooke L.; Børresen-Dale, Anne-Lise; Kristensen, Vessela N.; Cox, Angela; Swerdlow, Anthony J.; Orr, Nicholas; Bolla, Manjeet K.; Wang, Qin; Weber, Rachel Palmieri; Chen, Zhihua; Shah, Mitul; French, Juliet D.; Pharoah, Paul D.P.; Dunning, Alison M.; Tomlinson, Ian; Easton, Douglas F.; Edwards, Stacey L.; Thompson, Deborah J.; Spurdle, Amanda B.

    2015-01-01

    Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of Type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or epigenetic effects on HNF1B gene expression. We previously found single-nucleotide polymorphisms (SNPs) at the HNF1B locus to be associated with endometrial cancer, and now report extensive fine-mapping and in silico and laboratory analyses of this locus. Analysis of 1184 genotyped and imputed SNPs in 6608 Caucasian cases and 37 925 controls, and 895 Asian cases and 1968 controls, revealed the best signal of association for SNP rs11263763 (P = 8.4 × 10−14, odds ratio = 0.86, 95% confidence interval = 0.82–0.89), located within HNF1B intron 1. Haplotype analysis and conditional analyses provide no evidence of further independent endometrial cancer risk variants at this locus. SNP rs11263763 genotype was associated with HNF1B mRNA expression but not with HNF1B methylation in endometrial tumor samples from The Cancer Genome Atlas. Genetic analyses prioritized rs11263763 and four other SNPs in high-to-moderate linkage disequilibrium as the most likely causal SNPs. Three of these SNPs map to the extended HNF1B promoter based on chromatin marks extending from the minimal promoter region. Reporter assays demonstrated that this extended region reduces activity in combination with the minimal HNF1B promoter, and that the minor alleles of rs11263763 or rs8064454 are associated with decreased HNF1B promoter activity. Our findings provide evidence for a single signal associated with endometrial cancer risk at the HNF1B locus, and that risk is likely mediated via altered HNF1B gene expression. PMID:25378557

  19. Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson’s Disease Locus

    PubMed Central

    Labbé, Catherine; Ogaki, Kotaro; Lorenzo-Betancor, Oswaldo; Carrasquillo, Minerva M.; Heckman, Michael G.; McCarthy, Allan; Soto-Ortolaza, Alexandra I.; Walton, Ronald L.; Lynch, Timothy; Siuda, Joanna; Opala, Grzegorz; Krygowska-Wajs, Anna; Barcikowska, Maria; Czyzewski, Krzysztof; Dickson, Dennis W.; Uitti, Ryan J.; Wszolek, Zbigniew K.; Ross, Owen A.

    2015-01-01

    Genome-wide association studies (GWAS) in Parkinson’s disease (PD) have identified over 20 genomic regions associated with disease risk. Many of these loci include several candidate genes making it difficult to pinpoint the causal gene. The locus on chromosome 2q24.3 encompasses three genes: B3GALT1, STK39, and CERS6. In order to identify if the causal variants are simple missense changes, we sequenced all 31 exons of these three genes in 187 patients with PD. We identified 13 exonic variants including four non-synonymous and three insertion/deletion variants (indels). These non-synonymous variants and rs2102808, the GWAS tag SNP, were genotyped in three independent series consisting of a total of 1976 patients and 1596 controls. Our results show that the seven identified 2q24.3 coding variants are not independently responsible for the GWAS association signal at the locus; however, there is a haplotype, which contains both rs2102808 and a STK39 exon 1 6bp indel variant, that is significantly associated with PD risk (Odds Ratio [OR] = 1.35, 95% CI: 1.11–1.64, P = 0.003). This haplotype is more associated than each of the two variants independently (OR = 1.23, P = 0.005 and 1.10, P = 0.10, respectively). Our findings suggest that the risk variant is likely located in a non-coding region. Additional sequencing of the locus including promoter and regulatory regions will be needed to pinpoint the association at this locus that leads to an increased risk to PD. PMID:26090850

  20. Reduced abundance of the E3 ubiquitin ligase E6AP contributes to decreased expression of the INK4/ARF locus in non-small cell lung cancer.

    PubMed

    Gamell, Cristina; Gulati, Twishi; Levav-Cohen, Yaara; Young, Richard J; Do, Hongdo; Pilling, Pat; Takano, Elena; Watkins, Neil; Fox, Stephen B; Russell, Prudence; Ginsberg, Doron; Monahan, Brendon J; Wright, Gavin; Dobrovic, Alex; Haupt, Sue; Solomon, Ben; Haupt, Ygal

    2017-01-10

    The tumor suppressor p16(INK4a), one protein encoded by the INK4/ARF locus, is frequently absent in multiple cancers, including non-small cell lung cancer (NSCLC). Whereas increased methylation of the encoding gene (CDKN2A) accounts for its loss in a third of patients, no molecular explanation exists for the remainder. We unraveled an alternative mechanism for the silencing of the INK4/ARF locus involving the E3 ubiquitin ligase and transcriptional cofactor E6AP (also known as UBE3A). We found that the expression of three tumor suppressor genes encoded in the INK4/ARF locus (p15(INK4b), p16(INK4a), and p19(ARF)) was decreased in E6AP(-/-) mouse embryo fibroblasts. E6AP induced the expression of the INK4/ARF locus at the transcriptional level by inhibiting CDC6 transcription, a gene encoding a key repressor of the locus. Luciferase assays revealed that E6AP inhibited CDC6 expression by reducing its E2F1-dependent transcription. Chromatin immunoprecipitation analysis indicated that E6AP reduced the amount of E2F1 at the CDC6 promoter. In a subset of NSCLC samples, an E6AP-low/CDC6-high/p16(INK4a)-low protein abundance profile correlated with low methylation of the gene encoding p16(INK4a) (CDKN2A) and poor patient prognosis. These findings define a previously unrecognized tumor-suppressive role for E6AP in NSCLC, reveal an alternative silencing mechanism of the INK4/ARF locus, and reveal E6AP as a potential prognostic marker in NSCLC. Copyright © 2017, American Association for the Advancement of Science.

  1. Histone Chaperone Nap1 Is a Major Regulator of Histone H2A-H2B Dynamics at the Inducible GAL Locus.

    PubMed

    Chen, Xu; D'Arcy, Sheena; Radebaugh, Catherine A; Krzizike, Daniel D; Giebler, Holli A; Huang, Liangquan; Nyborg, Jennifer K; Luger, Karolin; Stargell, Laurie A

    2016-04-01

    Histone chaperones, like nucleosome assembly protein 1 (Nap1), play a critical role in the maintenance of chromatin architecture. Here, we use the GAL locus in Saccharomyces cerevisiae to investigate the influence of Nap1 on chromatin structure and histone dynamics during distinct transcriptional states. When the GAL locus is not expressed, cells lacking Nap1 show an accumulation of histone H2A-H2B but not histone H3-H4 at this locus. Excess H2A-H2B interacts with the linker DNA between nucleosomes, and the interaction is independent of the inherent DNA-binding affinity of H2A-H2B for these particular sequences as measured in vitro When the GAL locus is transcribed, excess H2A-H2B is reversed, and levels of all chromatin-bound histones are depleted in cells lacking Nap1. We developed an in vivo system to measure histone exchange at the GAL locus and observed considerable variability in the rate of exchange across the locus in wild-type cells. We recapitulate this variability with in vitro nucleosome reconstitutions, which suggests a contribution of DNA sequence to histone dynamics. We also find that Nap1 is required for transcription-dependent H2A-H2B exchange. Altogether, these results indicate that Nap1 is essential for maintaining proper chromatin composition and modulating the exchange of H2A-H2B in vivo. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

  2. Genetic overlap between Alzheimer’s disease and Parkinson’s disease at the MAPT locus

    PubMed Central

    Desikan, Rahul S.; Schork, Andrew J.; Wang, Yunpeng; Witoelar, Aree; Sharma, Manu; McEvoy, Linda K.; Holland, Dominic; Brewer, James B.; Chen, Chi-Hua; Thompson, Wesley K.; Harold, Denise; Williams, Julie; Owen, Michael J.; O’Donovan, Michael C.; Pericak-Vance, Margaret A.; Mayeux, Richard; Haines, Jonathan L.; Farrer, Lindsay A.; Schellenberg, Gerard D.; Heutink, Peter; Singleton, Andrew B.; Brice, Alexis; Wood, Nicolas W.; Hardy, John; Martinez, Maria; Choi, Seung Hoi; DeStefano, Anita; Ikram, M. Arfan; Bis, Joshua C.; Smith, Albert; Fitzpatrick, Annette L.; Launer, Lenore; van Duijn, Cornelia; Seshadri, Sudha; Ulstein, Ingun Dina; Aarsland, Dag; Fladby, Tormod; Djurovic, Srdjan; Hyman, Bradley T.; Snaedal, Jon; Stefansson, Hreinn; Stefansson, Kari; Gasser, Thomas; Andreassen, Ole A.; Dale, Anders M.

    2015-01-01

    We investigated genetic overlap between Alzheimer’s disease (AD) and Parkinson’s disease (PD). Using summary statistics (p-values) from large recent genomewide association studies (GWAS) (total n = 89,904 individuals), we sought to identify single nucleotide polymorphisms (SNPs) associating with both AD and PD. We found and replicated association of both AD and PD with the A allele of rs393152 within the extended MAPT region on chromosome 17 (meta analysis p-value across 5 independent AD cohorts = 1.65 × 10−7). In independent datasets, we found a dose-dependent effect of the A allele of rs393152 on intra-cerebral MAPT transcript levels and volume loss within the entorhinal cortex and hippocampus. Our findings identify the tau-associated MAPT locus as a site of genetic overlap between AD and PD and extending prior work, we show that the MAPT region increases risk of Alzheimer’s neurodegeneration. PMID:25687773

  3. Molecular mapping of the putative gonadoblastoma locus on the Y chromosome.

    PubMed

    Salo, P; Kääriäinen, H; Petrovic, V; Peltomäki, P; Page, D C; de la Chapelle, A

    1995-11-01

    Based on the high incidence of gonadoblastoma in females with XY gonadal dysgenesis or 45,X/46,XY mosaicism, the existence of a susceptibility locus on the Y chromosome (GBY) has been postulated. We attempted to map GBY by making use of a recently developed dense map of Y-chromosomal sequence-tagged sites (STSs). In two female patients with gonadoblastoma, small marker chromosomes contained portions of the Y chromosome, and a single region of overlap could be defined extending from probe pDP97 in interval 4B, which contains the centromere, to marker sY182 in interval 5E of the proximal long arm. This interval is contained in a YAC contig that comprises approximately 4 Mb of DNA. Our findings confirm the previous localization of GBY and greatly refine it. The localization of GBY overlaps with the region to which a putative growth determinant, GCY, was recently assigned.

  4. Global distribution of allele frequencies at the human dopamine D4 receptor locus

    SciTech Connect

    Chang, F.M.; Kidd, J.R.; Livak, K.J.

    1994-09-01

    The dopamine D4 receptor (DRD4) is a candidate gene for schizophrenia because the dopaminergic system has been implicated in this neuropsychiatric disorder. Several research groups have reported an association between allelic variants at DRD4 and schizophrenia, while others have been unable to replicate that finding. Knowledge of the appropriate gene frequencies in the underlying populations may resolve these inconsistencies. We have determined the frequencies of 8 different alleles of the 48 bp imperfect tandem repeat of exon 3 at the DRD4 locus in samples from 33 populations around the world. The frequencies vary considerably in the different populations with the most common allele ranging from 16% to 95%. Frequencies and Fst values will be presented for the 3 most common alleles (4-, 7-, and 2- repeat) by continental groupings, but the individual populations vary significantly around the averages. The populations averaged 4.3 alleles (range 2 to 7).

  5. The lta4h Locus Modulates Susceptibility to Mycobacterial Infection in Zebrafish and Humans

    PubMed Central

    Tobin, David M.; Vary, Jay C.; Ray, John P.; Walsh, Gregory S.; Dunstan, Sarah J.; Bang, Nguyen D.; Hagge, Deanna A.; Khadge, Saraswoti; King, Mary-Claire; Hawn, Thomas R.; Moens, Cecilia B.; Ramakrishnan, Lalita

    2010-01-01

    SUMMARY Exposure to Mycobacterium tuberculosis produces varied early outcomes, ranging from resistance to infection to progressive disease. Here we report results from a forward genetic screen in zebrafish larvae that identify multiple mutant classes with distinct patterns of innate susceptibility to Mycobacterium marinum. A hypersusceptible mutant maps to the lta4h locus encoding leukotriene A4 hydrolase, which catalyzes the final step in the synthesis of leukotriene B4 (LTB4), a potent chemoattractant and proinflammatory eicosanoid. lta4h mutations confer hypersusceptibility independent of LTB4 reduction, by redirecting eicosanoid substrates to anti-inflammatory lipoxins. The resultant anti-inflammatory state permits increased mycobacterial proliferation by limiting production of tumor necrosis factor. In humans, we find that protection from both tuberculosis and multibacillary leprosy is associated with heterozygosity for LTA4H polymorphisms that have previously been correlated with differential LTB4 production. Our results suggest conserved roles for balanced eicosanoid production in vertebrate resistance to mycobacterial infection. PMID:20211140

  6. Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q

    PubMed Central

    Desautels, Alex; Turecki, Gustavo; Montplaisir, Jacques; Sequeira, Adolfo; Verner, Andrei; Rouleau, Guy A.

    2001-01-01

    Restless legs syndrome (RLS) is a neurological disorder characterized by leg paresthesia associated with an irresistible urge to move that often interferes with nocturnal sleep, leading to chronic sleep deprivation. To map genes that may play a role in the vulnerability to RLS, a genomewide scan was conducted in a large French-Canadian family. Significant linkage was established on chromosome 12q, for a series of adjacent microsatellite markers with a maximum two-point LOD score of 3.42 (recombination fraction .05; P=6×10-4; autosomal recessive mode of inheritance), whereas multipoint linkage calculations yielded a LOD score of 3.59. Haplotype analysis refined the genetic interval, positioning the RLS-predisposing gene in a 14.71-cM region between D12S1044 and D12S78. These findings represent the first mapping of a locus conferring susceptibility to RLS. PMID:11704926

  7. A case study of SNPSTR efficiency in paternity testing with locus incompatibility.

    PubMed

    Ye, Yi; Luo, Haibo; Liao, Linchuan; Zhang, Ji; Wei, Wei; Wang, Zheng; Hou, Yiping

    2014-03-01

    Instead of testing the additional STR loci, SNPSTR was included in the paternity testing for an alleged father-son duo case, with one inconsistency at the CSF1PO locus. We have chosen CSF1PO STR and five closely linked SNPs rs10077461, rs2569076, rs2228422, rs3733673 and rs3829987 to establish the SNPSTR and examined its potential use in paternity testing. A total of 152 haplotypes from 76 unrelated individuals were obtained by the nested-AS-PCR and 60 SNPSTR haplotypes were observed. The discrimination power of the SNPSTR haplotype was greater than either the STR or SNP haplotype alone. Its SNP part could be used to distinguish fathers from uncles. When SNPSTR was introduced into the calculation of parentage statistics, the paternity probability increased to 99.998%. Based on our findings, we concluded that SNPSTR could be considered a useful tool in forensic science. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  8. Ideal gender identity related to parent images and locus of control: Jungian and social learning perspectives.

    PubMed

    Shimoda, Hiroko; Keskinen, Soili

    2004-06-01

    In this research, we wanted to clarify how gender images are different or invariant and related to parents, attributes, and the attitude of controlling life (locus of control) in two cultural contexts, Japan and Finland. For this purpose, students' ideal gender images, consisting of ideal mother, female, father and male images, and parents' similarity to the four ideal gender images were studied in 135 Japanese and 119 Finnish university students. Major findings were (a) Japanese students' ideal gender images were more stereotypic than those of Finnish students; (b) students' ideal mother image and parents' similarity to the ideal mother image were related only to their sex, which supports Jung's theory; (c) students socially learned other ideal gender images, but these did not fit with expectation from social learning theory; (d) Japanese students' mothers are models or examples of gender images, but Finnish male students did not seem to base their ideal gender images on their parents. Implication of measures was discussed.

  9. Multimode Root locus for a Matrix with uncertainty using convex lowbar Hull

    SciTech Connect

    Hussein, Mohammed Tawfik

    2009-03-05

    The goal of this paper is to investigate the robust stability of the uncertain system based on the edge theorem and the Bhattacharyya and Keel algorithm. Firstly, the dynamic model for the system will be derived, then, Depending on the uncertainty, which appears in the elements of matrix A, the system will generates a set of interval matrices, secondly the procedures of the proposed algorithm to find convex hull of the system by Using the method of Andrew's Monotone Chain Algorithm will be implemented, and lastly root locus method will be utilized and applied to the exposed edges of the convex polygon and yet; the sharp and tight bounds of the eigenvalues of the proposed uncertain systems will be computed. An Electrical engineering system will be presented as practical example to validate the proposed method.

  10. The impact of visual impairments in self-esteem and locus of control.

    PubMed

    Papadopoulos, Konstantinos; Montgomery, Anthony J; Chronopoulou, Elena

    2013-12-01

    This study investigates the differences between adults with visual impairments and sighted adults with regard to locus of control (LOC) and self-esteem. One hundred and eight adults with visual impairments (blindness or low vision) and fifty-five sighted adults took part in this study. Sighted adults showed a higher score on the self-esteem scale than either the individuals with low vision or with blindness. Moreover, analysis indicated no significant differences amongst the three groups of participants regarding LOC. Significant predictors of self-esteem were vision status and age at loss of sight. Significant predictors of LOC were vision status and independent movement. Findings are discussed with regard to their implications for parents, social workers, teachers, and rehabilitation specialists. Copyright © 2013 Elsevier Ltd. All rights reserved.

  11. Genomic amplification of the caprine EDNRA locus might lead to a dose dependent loss of pigmentation

    PubMed Central

    Menzi, Fiona; Keller, Irene; Reber, Irene; Beck, Julia; Brenig, Bertram; Schütz, Ekkehard; Leeb, Tosso; Drögemüller, Cord

    2016-01-01

    The South African Boer goat displays a characteristic white spotting phenotype, in which the pigment is limited to the head. Exploiting the existing phenotype variation within the breed, we mapped the locus causing this white spotting phenotype to chromosome 17 by genome wide association. Subsequent whole genome sequencing identified a 1 Mb copy number variant (CNV) harboring 5 genes including EDNRA. The analysis of 358 Boer goats revealed 3 alleles with one, two, and three copies of this CNV. The copy number is correlated with the degree of white spotting in goats. We propose a hypothesis that ectopic overexpression of a mutant EDNRA scavenges EDN3 required for EDNRB signaling and normal melanocyte development and thus likely lead to an absence of melanocytes in the non-pigmented body areas of Boer goats. Our findings demonstrate the value of domestic animals as reservoir of unique mutants and for identifying a precisely defined functional CNV. PMID:27329507

  12. Allelic diversity at the DLA-88 locus in Golden Retriever and Boxer breeds is limited

    PubMed Central

    Ross, Peter; Buntzman, Adam S.; Vincent, Benjamin G.; Grover, Elise N.; Gojanovich, Gregory S.; Collins, Edward J.; Frelinger, Jeffrey A.; Hess, Paul R.

    2012-01-01

    In the dog, previous analyses of major histocompatibility complex (MHC) class I genes suggest a single polymorphic locus, Dog Leukocyte Antigen (DLA)-88. While 51 alleles have been reported, estimates of prevalence have not been made. We hypothesized that, within a breed, DLA-88 diversity would be restricted, and one or more dominant alleles could be identified. Accordingly, we determined allele usage in 47 Golden Retrievers and 39 Boxers. In each population, 10 alleles were found; 4 were shared. Seven novel alleles were identified. DLA-88*05101 and *50801 predominated in Golden Retrievers, while most Boxers carried *03401. In these breeds DLA-88 polymorphisms are limited and largely non-overlapping. The finding of highly prevalent alleles fulfills an important prerequisite for studying canine CD8+ T-cell responses. PMID:22571293

  13. Trans-Ancestral Studies Fine Map the SLE-Susceptibility Locus TNFSF4

    PubMed Central

    Manku, Harinder; Langefeld, Carl D.; Guerra, Sandra G.; Malik, Talat H.; Alarcon-Riquelme, Marta; Anaya, Juan-Manuel; Bae, Sang-Cheol; Boackle, Susan A.; Brown, Elizabeth E.; Criswell, Lindsey A.; Freedman, Barry I.; Gaffney, Patrick M.; Gregersen, Peter A.; Guthridge, Joel M.; Han, Sang-Hoon; Harley, John B.; Jacob, Chaim O.; James, Judith A.; Kamen, Diane L.; Kaufman, Kenneth M.; Kelly, Jennifer A.; Martin, Javier; Merrill, Joan T.; Moser, Kathy L.; Niewold, Timothy B.; Park, So-Yeon; Pons-Estel, Bernardo A.; Sawalha, Amr H.; Scofield, R. Hal; Shen, Nan; Stevens, Anne M.; Sun, Celi; Gilkeson, Gary S.; Edberg, Jeff C.; Kimberly, Robert P.; Nath, Swapan K.; Tsao, Betty P.; Vyse, Tim J.

    2013-01-01

    We previously established an 80 kb haplotype upstream of TNFSF4 as a susceptibility locus in the autoimmune disease SLE. SLE-associated alleles at this locus are associated with inflammatory disorders, including atherosclerosis and ischaemic stroke. In Europeans, the TNFSF4 causal variants have remained elusive due to strong linkage disequilibrium exhibited by alleles spanning the region. Using a trans-ancestral approach to fine-map the locus, utilising 17,900 SLE and control subjects including Amerindian/Hispanics (1348 cases, 717 controls), African-Americans (AA) (1529, 2048) and better powered cohorts of Europeans and East Asians, we find strong association of risk alleles in all ethnicities; the AA association replicates in African-American Gullah (152,122). The best evidence of association comes from two adjacent markers: rs2205960-T (P = 1.71×10−34, OR = 1.43[1.26–1.60]) and rs1234317-T (P = 1.16×10−28, OR = 1.38[1.24–1.54]). Inference of fine-scale recombination rates for all populations tested finds the 80 kb risk and non-risk haplotypes in all except African-Americans. In this population the decay of recombination equates to an 11 kb risk haplotype, anchored in the 5′ region proximal to TNFSF4 and tagged by rs2205960-T after 1000 Genomes phase 1 (v3) imputation. Conditional regression analyses delineate the 5′ risk signal to rs2205960-T and the independent non-risk signal to rs1234314-C. Our case-only and SLE-control cohorts demonstrate robust association of rs2205960-T with autoantibody production. The rs2205960-T is predicted to form part of a decameric motif which binds NF-κBp65 with increased affinity compared to rs2205960-G. ChIP-seq data also indicate NF-κB interaction with the DNA sequence at this position in LCL cells. Our research suggests association of rs2205960-T with SLE across multiple groups and an independent non-risk signal at rs1234314-C. rs2205960-T is associated with autoantibody production and

  14. Glycosylated a-lactalbumin-based nanocomplex for curcumin: physicochemical stability and DPPH-scavenging activity

    USDA-ARS?s Scientific Manuscript database

    Low stability at high salt concentrations, iso-electric point, and high temperature restricted the application of proteins as stabilizers in nutraceutical encapsulation. Protein-polysaccharide conjugates made with Maillard reaction may be better alternatives. In this study, the characteristics of cu...

  15. Fine mapping of the 9q31 Hirschsprung’s disease locus

    PubMed Central

    Tang, C. S.; Sribudiani, Y.; Miao, X. P.; de Vries, A. R.; Burzynski, G.; So, M. T.; Leon, Y. Y.; Yip, B. H.; Osinga, J.; Hui, K. J. W. S.; Verheij, J. B. G. M.; Cherny, S. S.; Tam, P. K. H.; Sham, P. C.

    2010-01-01

    Hirschsprung’s disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene. Reduced penetrance of RET mutations and phenotypic variability suggest the involvement of additional modifying genes in the disease. A RET-dependent modifier locus was mapped to 9q31 in families bearing no coding sequence (CDS) RET mutations. Yet, the 9q31 causative locus is to be identified. To fine-map the 9q31 region, we genotyped 301 tag-SNPs spanning 7 Mb on 137 HSCR Dutch trios. This revealed two HSCR-associated regions that were further investigated in 173 Chinese HSCR patients and 436 controls using the genotype data obtained from a genome-wide association study recently conducted. Within one of the two identified regions SVEP1 SNPs were found associated with Dutch HSCR patients in the absence of RET mutations. This ratifies the reported linkage to the 9q31 region in HSCR families with no RET CDS mutations. However, this finding could not be replicated. In Chinese, HSCR was found associated with IKBKAP. In contrast, this association was stronger in patients carrying RET CDS mutations with p = 5.10 × 10−6 [OR = 3.32 (1.99, 5.59)] after replication. The HSCR-association found for IKBKAP in Chinese suggests population specificity and implies that RET mutation carriers may have an additional risk. Our finding is supported by the role of IKBKAP in the development of the nervous system. Electronic supplementary material The online version of this article (doi:10.1007/s00439-010-0813-8) contains supplementary material, which is available to authorized users. PMID:20361209

  16. Find a Surgeon

    MedlinePlus

    ... find out more. Head, Neck and Oral Pathology Head, Neck and Oral Pathology Close to 49,750 Americans ... find out more. Head, Neck and Oral Pathology Head, Neck and Oral Pathology Close to 49,750 Americans ...

  17. Find a Massage Therapist

    MedlinePlus

    ... Newsletter Student Experience Newsletter AMTA News Find a Massage Therapist Find a qualified massage therapist near you ... massage therapy school Proprietary Information and Legal Notice Massage is Good Medicine 25 Reasons to Get a ...

  18. Genetic locus for streptolysin S production by group A streptococcus.

    PubMed

    Nizet, V; Beall, B; Bast, D J; Datta, V; Kilburn, L; Low, D E; De Azavedo, J C

    2000-07-01

    Group A streptococcus (GAS) is an important human pathogen that causes pharyngitis and invasive infections, including necrotizing fasciitis. Streptolysin S (SLS) is the cytolytic factor that creates the zone of beta-hemolysis surrounding GAS colonies grown on blood agar. We recently reported the discovery of a potential genetic determinant involved in SLS production, sagA, encoding a small peptide of 53 amino acids (S. D. Betschel, S. M. Borgia, N. L. Barg, D. E. Low, and J. C. De Azavedo, Infect. Immun. 66:1671-1679, 1998). Using transposon mutagenesis, chromosomal walking steps, and data from the GAS genome sequencing project (www.genome.ou.edu/strep. html), we have now identified a contiguous nine-gene locus (sagA to sagI) involved in SLS production. The sag locus is conserved among GAS strains regardless of M protein type. Targeted plasmid integrational mutagenesis of each gene in the sag operon resulted in an SLS-negative phenotype. Targeted integrations (i) upstream of the sagA promoter and (ii) downstream of a terminator sequence after sagI did not affect SLS production, establishing the functional boundaries of the operon. A rho-independent terminator sequence between sagA and sagB appears to regulate the amount of sagA transcript produced versus transcript for the entire operon. Reintroduction of the nine-gene sag locus on a plasmid vector restored SLS activity to the nonhemolytic sagA knockout mutant. Finally, heterologous expression of the intact sag operon conferred the SLS beta-hemolytic phenotype to the nonhemolytic Lactococcus lactis. We conclude that gene products of the GAS sag operon are both necessary and sufficient for SLS production. Sequence homologies of sag operon gene products suggest that SLS is related to the bacteriocin family of microbial toxins.

  19. Role of a Putative Polysaccharide Locus in Bordetella Biofilm Development▿

    PubMed Central

    Parise, Gina; Mishra, Meenu; Itoh, Yoshikane; Romeo, Tony; Deora, Rajendar

    2007-01-01

    Bordetellae are gram-negative bacteria that colonize the respiratory tracts of animals and humans. We and others have recently shown that these bacteria are capable of living as sessile communities known as biofilms on a number of abiotic surfaces. During the biofilm mode of existence, bacteria produce one or more extracellular polymeric substances that function, in part, to hold the cells together and to a surface. There is little information on either the constituents of the biofilm matrix or the genetic basis of biofilm development by Bordetella spp. By utilizing immunoblot assays and by enzymatic hydrolysis using dispersin B (DspB), a glycosyl hydrolase that specifically cleaves the polysaccharide poly-β-1,6-N-acetyl-d-glucosamine (poly-β-1,6-GlcNAc), we provide evidence for the production of poly-β-1,6-GlcNAc by various Bordetella species (Bordetella bronchiseptica, B. pertussis, and B. parapertussis) and its role in their biofilm development. We have investigated the role of a Bordetella locus, here designated bpsABCD, in biofilm formation. The bps (Bordetella polysaccharide) locus is homologous to several bacterial loci that are required for the production of poly-β-1,6-GlcNAc and have been implicated in bacterial biofilm formation. By utilizing multiple microscopic techniques to analyze biofilm formation under both static and hydrodynamic conditions, we demonstrate that the bps locus, although not essential at the initial stages of biofilm formation, contributes to the stability and the maintenance of the complex architecture of Bordetella biofilms. PMID:17114249

  20. Genetic Locus for Streptolysin S Production by Group A Streptococcus

    PubMed Central

    Nizet, Victor; Beall, Bernard; Bast, Darrin J.; Datta, Vivekananda; Kilburn, Laurie; Low, Donald E.; De Azavedo, Joyce C. S.

    2000-01-01

    Group A streptococcus (GAS) is an important human pathogen that causes pharyngitis and invasive infections, including necrotizing fasciitis. Streptolysin S (SLS) is the cytolytic factor that creates the zone of beta-hemolysis surrounding GAS colonies grown on blood agar. We recently reported the discovery of a potential genetic determinant involved in SLS production, sagA, encoding a small peptide of 53 amino acids (S. D. Betschel, S. M. Borgia, N. L. Barg, D. E. Low, and J. C. De Azavedo, Infect. Immun. 66:1671–1679, 1998). Using transposon mutagenesis, chromosomal walking steps, and data from the GAS genome sequencing project (www.genome.ou.edu/strep.html), we have now identified a contiguous nine-gene locus (sagA to sagI) involved in SLS production. The sag locus is conserved among GAS strains regardless of M protein type. Targeted plasmid integrational mutagenesis of each gene in the sag operon resulted in an SLS-negative phenotype. Targeted integrations (i) upstream of the sagA promoter and (ii) downstream of a terminator sequence after sagI did not affect SLS production, establishing the functional boundaries of the operon. A rho-independent terminator sequence between sagA and sagB appears to regulate the amount of sagA transcript produced versus transcript for the entire operon. Reintroduction of the nine-gene sag locus on a plasmid vector restored SLS activity to the nonhemolytic sagA knockout mutant. Finally, heterologous expression of the intact sag operon conferred the SLS beta-hemolytic phenotype to the nonhemolytic Lactococcus lactis. We conclude that gene products of the GAS sag operon are both necessary and sufficient for SLS production. Sequence homologies of sag operon gene products suggest that SLS is related to the bacteriocin family of microbial toxins. PMID:10858242

  1. Locus minimization in breed prediction using artificial neural network approach.

    PubMed

    Iquebal, M A; Ansari, M S; Sarika; Dixit, S P; Verma, N K; Aggarwal, R A K; Jayakumar, S; Rai, A; Kumar, D

    2014-12-01

    Molecular markers, viz. microsatellites and single nucleotide polymorphisms, have revolutionized breed identification through the use of small samples of biological tissue or germplasm, such as blood, carcass samples, embryos, ova and semen, that show no evident phenotype. Classical tools of molecular data analysis for breed identification have limitations, such as the unavailability of referral breed data, causing increased cost of collection each time, compromised computational accuracy and complexity of the methodology used. We report here the successful use of an artificial neural network (ANN) in background to decrease the cost of genotyping by locus minimization. The webserver is freely accessible (http://nabg.iasri.res.in/bisgoat) to the research community. We demonstrate that the machine learning (ANN) approach for breed identification is capable of multifold advantages such as locus minimization, leading to a drastic reduction in cost, and web availability of reference breed data, alleviating the need for repeated genotyping each time one investigates the identity of an unknown breed. To develop this model web implementation based on ANN, we used 51,850 samples of allelic data of microsatellite-marker-based DNA fingerprinting on 25 loci covering 22 registered goat breeds of India for training. Minimizing loci to up to nine loci through the use of a multilayer perceptron model, we achieved 96.63% training accuracy. This server can be an indispensable tool for identification of existing breeds and new synthetic commercial breeds, leading to protection of intellectual property in case of sovereignty and bio-piracy disputes. This server can be widely used as a model for cost reduction by locus minimization for various other flora and fauna in terms of variety, breed and/or line identification, especially in conservation and improvement programs.

  2. Locus of control and home mortgage loan behaviour.

    PubMed

    Wang, Mingji; Chen, Hong; Wang, Lei

    2008-04-01

    The present study investigated the impact of locus of control on home mortgage loan behaviours. The results showed that participants with stronger external control were more likely to purchase a lower priced home, have a lower ratio of mortgage loan amount to the total home value, and have a shorter term of mortgage loan. Moreover, among participants who have owned a home, those not using mortgage loans showed more external control than those using mortgage loans; among participants who have not owned a home but want to buy a home, those not planning to use mortgage loans showed more external control than those planning to use mortgage loans.

  3. Measurement of supernatural belief: sex differences and locus of control.

    PubMed

    Randall, T M; Desrosiers, M

    1980-10-01

    Although we live in an age dominated by science and technology, there exists an increasingly popular anti-science sentiment. This study describes the development of a scale to assess the degree of personal acceptance of supernatural causality versus acceptance of scientific explanation. In addition to the psychometric data concerning validity and reliability of the scale, data are presented which showed the personality factor of supernaturalism to be independent of orthodox religious attitudes. Results indicated a significantly greater supernatural acceptance for women, and a positive relation of supernaturalism with external locus of control.

  4. Platinum coat color locus in the deer mouse.

    PubMed

    Dodson, K M; Dawson, W D; Van Ooteghem, S O; Cushing, B S; Haigh, G R

    1987-01-01

    Platinum coat color in the deer mouse, Peromyscus maniculatus, is an autosomal recessive trait marking a locus, pt, distinct from silver (si), albino (c), blonde (bl), brown (b), and agouti (a). Platinum deer mice are conspicuously pale, with light ears and tail stripe. The pewter trait is allelic with and phenotypically identical to platinum, and represents an independent recurrence of this mutant. The rate of recoveries of coat color mutations from wild deer mice is consistent with available data for recurring mutation rates balanced by strong selection against the recessive phenotype.

  5. [Polymorphism of the DXS1062 locus in a Polish population].

    PubMed

    Cybulska, Lidia; Szczerkowska, Zofia

    2004-01-01

    This paper presents the results of a population study of a dinucleotide STR marker DXS1062. Blood samples were obtained from unrelated adult individuals (males and females) living in the northern part of Poland. In the analyzed population, 21 different phenotypes and 9 alleles of the DXS1062 locus were found. The alleles were sequenced and used for the construction of an allelic ladder. The nomenclature in accordance with ISFG guidelines was proposed. The most frequent alleles were 20 and 21. Statistical parameters (PR, PM, PD, PIC) showed that the examined system is useful in forensic medicine.

  6. Recent advances of flowering locus T gene in higher plants.

    PubMed

    Xu, Feng; Rong, Xiaofeng; Huang, Xiaohua; Cheng, Shuiyuan

    2012-01-01

    Flowering Locus T (FT) can promote flowering in the plant photoperiod pathway and also facilitates vernalization flowering pathways and other ways to promote flowering. The expression of products of the FT gene is recognized as important parts of the flowering hormone and can induce flowering by long-distance transportation. In the present study, many FT-like genes were isolated, and the transgenic results show that FT gene can promote flowering in plants. This paper reviews the progress of the FT gene and its expression products to provide meaningful information for further studies of the functions of FT genes.

  7. Semiparametric approach to match probability calculations using single locus probes.

    PubMed

    Cao, R; Alemany, J; Cabrero, C; Carracedo, A; Díez, A; Valverde, E

    1996-01-01

    A semiparametric approach to match probability calculations using single locus probes has been developed and compared graphically with other standard methods by a one-sample simulation. The density functions obtained using this method are closer to the real distributions than those obtained by conventional approaches. Our method does not need to establish an arbitrary match threshold, which has been a source of problems in practical applications of standard methods. Moreover, it can be adjusted to any particular conditions by setting the experimental error and correlation of each laboratory. To assess the practical performance of this method we carried out a comparison experiment using a sample of 229 individuals analysed in duplicate.

  8. Role of health locus of control between uncertainty and uncertainty appraisal among patients with atrial fibrillation.

    PubMed

    Kang, Younhee

    2009-03-01

    The purpose of this study was to determine the role of health locus of control in the model of uncertainty in illness among patients with atrial fibrillation. This study employed a descriptive, correlational survey. A total of 81 patients with atrial fibrillation were recruited from two large medical centers in the United States. Only the interaction term of uncertainty and internal health locus of control had a significant moderating effect on appraisal of danger. Greater internal health locus of control was associated with greater appraisal of danger at the given degree of uncertainty. Therefore, the internal health locus of control played a significant role in magnifying the relationship of uncertainty on appraisal of danger. However, health locus of control did not moderate the relationship between uncertainty and appraisal of opportunity. Finally, this study concluded that internal health locus of control had a moderating effect on the relationship between uncertainty and appraisal of danger.

  9. Factor structure, reliability, and validity of the Levenson's Locus of Control Scale in Iranian infertile people.

    PubMed

    Maroufizadeh, Saman; Omani Samani, Reza; Amini, Payam; Navid, Behnaz

    2016-09-01

    This study examined psychometric properties of the Levenson's Locus of Control Scale among Iranian infertile patients. In all, 312 infertile patients completed the Levenson's Locus of Control Scale and Hospital Anxiety and Depression Scale. The confirmatory factor analysis indicated that the original three-factor model of Levenson's Locus of Control Scale was adequate ( χ(2)/ df = 2.139; goodness-of-fit index = 0.88; root mean square error of approximation = 0.061; and standardized root mean square residual = 0.076). The Cronbach's alpha of the subscales ranged from 0.56 to 0.67. The Levenson's Locus of Control Scale subscales significantly correlated with anxiety and depression, showing an acceptable convergent validity. In conclusion, the Levenson's Locus of Control Scale has adequate reliability and validity and can be used to measure locus of control orientation in Iranian infertile patients.

  10. [Repeated exposure in hypergravity: morphology of locus coeruleus, hypothalamic paraventricular nucleus and vagal nerve dorsal nucleus in rats].

    PubMed

    Krasnov, I B; Fidelina, O V; Gorbatiuk, O S; Vikhreva, O V

    2000-01-01

    As compared to analogous single rotation at 2 g and in contrast to 5-d single and repeated exposures to Coriolis accelerations, repeated 5-day hypergravity (2 g generated by centrifuge rotation) gave rise to structural alterations in rat's neurons of locus coeruleus, vasopressinergic neurons of the lateral magnocellular subnucleus paraventricular nucleus and nervi vagi dorsal nucleus suggesting involvement of these structures of brain in the mechanism of facilitation of adaptation to repeated long-term hypergravity. Results of the study point to the ability of mammals to remember changes in gravity. Findings of the study may help develop an algorithm of intermittent exposure to artificial gravity aboard space vehicle.

  11. Japanese American reactions to World War II incarceration redress: Just world belief, locus of control, and coping.

    PubMed

    Kim, Jackie H J; Nagata, Donna K; Akiyama, Mark

    2015-07-01

    This study examines second generation (Nisei) Japanese Americans' reactions to government redress for their unjust incarceration during World War II. Structural equation modeling (SEM) was used to explore the roles of individual difference factors-Belief in a Just World (BJW), Locus of Control (LOC)-and Incarceration-Related Coping in predicting (a) reported redress-related Suffering Relief and (b) Positive Redress Impacts. Findings show that BJW was a stronger predictor of redress reactions than LOC, with higher BJW associated with more affirmative views of redress. In addition, Incarceration-Related Coping mediated a majority of the relationships between the individual difference factors and redress reactions.

  12. The Mediating Effects of Social Support and Locus of Control on the Relationship between Post-Traumatic Stress and Depressive Symptoms in a Jamaican University Sample.

    PubMed

    Seixas, Azizi A; James, Caryl; Jean-Louis, Girardin; Butler, Mark; Zizi, Ferdinand; Gardner, Alex

    2015-07-01

    The increasing rate of comorbid posttraumatic stress and depressive symptoms among young adults presents a unique symptom presentation and challenges to treatment. The current study examined psychosocial barriers--external locus of control-- and facilitators-- social support-- in the posttraumatic stress and depressive symptoms association. The current cross-sectional study was conducted among 701 Jamaican university participants, ages 18-30 years. Participants completed self-report measures of general demographic information as well as target variables which include the CES-D-10, Sense of control (external and internal locus of control), Short screening scale for DSM-IV posttraumatic stress disorder and social support measures. Majority of the sample was female (76.2%; n=534); and slightly more than half of the sample self-identified as Black/African ancestry (59.7%). External locus of control (LOC) partially mediated the relationship between posttraumatic stress and depressive symptoms, external locus of control (LOC) had a greater mediation magnitude than social support in the posttraumatic stress-depressive symptoms association (Indirect Effect=0.133, 95% CI-0.075-0.211). In post-hoc analyses women appeared more highly traumatized than their male counterparts (14.3%, χ(2) =8.032, p=0.005). The sub-sample of highly traumatized individuals reported higher levels of depression, posttraumatic stress symptoms, external LOC, and lower levels of social support and internal LOC than did individuals with lower levels of trauma. Contrary to previous research, our findings indicate that external LOC partially mediated the relationship between posttraumatic stress and depressive symptoms among a Jamaica university sample more so than social support. These findings therefore suggest that psychosocial treatments should consider locus of control focused interventions or skill building for young adults who suffer from posttraumatic stress and depressive symptoms.

  13. The Mediating Effects of Social Support and Locus of Control on the Relationship between Post-Traumatic Stress and Depressive Symptoms in a Jamaican University Sample

    PubMed Central

    Seixas, Azizi A.; James, Caryl; Jean-Louis, Girardin; Butler, Mark; Zizi, Ferdinand; Gardner, Alex

    2015-01-01

    Background The increasing rate of comorbid posttraumatic stress and depressive symptoms among young adults presents a unique symptom presentation and challenges to treatment. The current study examined psychosocial barriers--external locus of control-- and facilitators-- social support-- in the posttraumatic stress and depressive symptoms association. Methods The current cross-sectional study was conducted among 701 Jamaican university participants, ages 18–30 years. Participants completed self-report measures of general demographic information as well as target variables which include the CES-D-10, Sense of control (external and internal locus of control), Short screening scale for DSM-IV posttraumatic stress disorder and social support measures. Results Majority of the sample was female (76.2%; n=534); and slightly more than half of the sample self-identified as Black/African ancestry (59.7%). External locus of control (LOC) partially mediated the relationship between posttraumatic stress and depressive symptoms, external locus of control (LOC) had a greater mediation magnitude than social support in the posttraumatic stress-depressive symptoms association (Indirect Effect=0.133, 95% CI-0.075–0.211). In post-hoc analyses women appeared more highly traumatized than their male counterparts (14.3%, χ2 =8.032, p=0.005). The sub-sample of highly traumatized individuals reported higher levels of depression, posttraumatic stress symptoms, external LOC, and lower levels of social support and internal LOC than did individuals with lower levels of trauma. Conclusion Contrary to previous research, our findings indicate that external LOC partially mediated the relationship between posttraumatic stress and depressive symptoms among a Jamaica university sample more so than social support. These findings therefore suggest that psychosocial treatments should consider locus of control focused interventions or skill building for young adults who suffer from posttraumatic

  14. Amygdalar Gating of Early Sensory Processing through Interactions with Locus Coeruleus.

    PubMed

    Fast, Cynthia D; McGann, John P

    2017-03-15

    Fear- and stress-induced activity in the amygdala has been hypothesized to influence sensory brain regions through the influence of the amygdala on neuromodulatory centers. To directly examine this relationship, we used optical imaging to observe odor-evoked activity in populations of olfactory bulb inhibitory interneurons and of synaptic terminals of olfactory sensory neurons (the primary sensory neurons of the olfactory system, which provide the initial olfactory input to the brain) during pharmacological inactivation of amygdala and locus coeruleus (LC) in mice. Although the amygdala does not directly project to the olfactory bulb, joint pharmacological inactivation of the central, basolateral, and lateral nuclei of the amygdala nonetheless strongly suppressed odor-evoked activity in GABAergic inhibitory interneuron populations in the OB. This suppression was prevented by inactivation of LC or pretreatment of the olfactory bulb with a broad-spectrum noradrenergic receptor antagonist. Visualization of synaptic output from olfactory sensory neuron terminals into the olfactory bulb of the brain revealed that amygdalar inactivation preferentially strengthened the odor-evoked synaptic output of weakly activated populations of sensory afferents from the nose, thus demonstrating a change in sensory gating potentially mediated by local inhibition of olfactory sensory neuron terminals. We conclude that amygdalar activity influences olfactory processing as early as the primary sensory input to the brain by modulating norepinephrine release from the locus coeruleus into the olfactory bulb. These findings show that the amygdala and LC state actively determines which sensory signals are selected for processing in sensory brain regions. Similar local circuitry operates in the olfactory, visual, and auditory systems, suggesting a potentially shared mechanism across modalities.SIGNIFICANCE STATEMENT The affective state is increasingly understood to influence early neural

  15. 19p13.1 is a triple negative-specific breast cancer susceptibility locus

    PubMed Central

    Stevens, Kristen N.; Fredericksen, Zachary; Vachon, Celine M.; Wang, Xianshu; Margolin, Sara; Lindblom, Annika; Nevanlinna, Heli; Greco, Dario; Aittomäki, Kristiina; Blomqvist, Carl; Chang-Claude, Jenny; Vrieling, Alina; Flesch-Janys, Dieter; Sinn, Hans-Peter; Wang-Gohrke, Shan; Nickels, Stefan; Brauch, Hiltrud; Ko, Yon-Dschun; Fischer, Hans-Peter; Schmutzler, Rita K.; Meindl, Alfons; Bartram, Claus R.; Schott, Sarah; Engel, Christof; Godwin, Andrew K.; Weaver, JoEllen; Pathak, Harsh B.; Sharma, Priyanka; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Stegmaier, Christa; Miron, Penelope; Yannoukakos, Drakoulis; Stavropoulou, Alexandra; Fountzilas, George; Gogas, Helen J.; Swann, Ruth; Dwek, Miriam; Perkins, Annie; Milne, Roger L.; Benítez, Javier; Zamora, M Pilar; Pérez, José Ignacio Arias; Bojesen, Stig E.; Nielsen, Sune F.; Nordestgaard, Børge G; Flyger, Henrik; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Cordina-Duverger, Emilie; Burwinkel, Barbara; Marmé, Frederick; Schneeweiss, Andreas; Sohn, Christof; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael J.; Peto, Julian; Johnson, Nichola; Fletcher, Olivia; Silva, Isabel dos Santos; Fasching, Peter A.; Beckmann, Matthias W.; Hartmann, Arndt; Ekici, Arif B.; Lophatananon, Artitaya; Muir, Kenneth; Puttawibul, Puttisak; Wiangnon, Surapon; Schmidt, Marjanka K; Broeks, Annegien; Braaf, Linde M; Rosenberg, Efraim H; Hopper, John L.; Apicella, Carmel; Park, Daniel J.; Southey, Melissa C.; Swerdlow, Anthony J.; Ashworth, Alan; Orr, Nicholas; Schoemaker, Minouk J.; Anton-Culver, Hoda; Ziogas, Argyrios; Bernstein, Leslie; Dur, Christina Clarke; Shen, Chen-Yang; Yu, Jyh-Cherng; Hsu, Huan-Ming; Hsiung, Chia-Ni; Hamann, Ute; Dünnebier, Thomas; Rüdiger, Thomas; Ulmer, Hans Ulrich; Pharoah, Paul P.; Dunning, Alison M; Humphreys, Manjeet K.; Wang, Qin; Cox, Angela; Cross, Simon S.; Reed, Malcom W.; Hall, Per; Czene, Kamila; Ambrosone, Christine B.; Ademuyiwa, Foluso; Hwang, Helena; Eccles, Diana M.; Garcia-Closas, Montserrat; Figueroa, Jonine D.; Sherman, Mark E.; Lissowska, Jolanta; Devilee, Peter; Seynaeve, Caroline; Tollenaar, R.A.E.M.; Hooning, Maartje J.; Andrulis, Irene L.; Knight, Julia A.; Glendon, Gord; Mulligan, Anna Marie; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; John, Esther M.; Miron, Alexander; Alnæs, Grethe Grenaker; Kristensen, Vessela; Børresen-Dale, Anne-Lise; Giles, Graham G.; Baglietto, Laura; McLean, Catriona A; Severi, Gianluca; Kosel, Matthew L.; Pankratz, V.S.; Slager, Susan; Olson, Janet E.; Radice, Paolo; Peterlongo, Paolo; Manoukian, Siranoush; Barile, Monica; Lambrechts, Diether; Hatse, Sigrid; Dieudonne, Anne-Sophie; Christiaens, Marie-Rose; Chenevix-Trench, Georgia; Beesley, Jonathan; Chen, Xiaoqing; Mannermaa, Arto; Kosma, Veli-Matti; Hartikainen, Jaana M.; Soini, Ylermi; Easton, Douglas F.; Couch, Fergus J.

    2012-01-01

    The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with risk of ovarian cancer. Here we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 Odds Ratio (OR)=1.10, 95% Confidence Interval (CI) 1.05 – 1.15, p=3.49 × 10-5] and triple negative (TN) (ER, PR and HER2 negative) breast cancer [rs8170 OR=1.22, 95% CI 1.13 – 1.31, p=2.22 × 10-7]. However, rs8170 was no longer associated with ER-negative breast cancer risk when TN cases were excluded [OR=0.98, 95% CI 0.89 – 1.07, p=0.62]. In addition, a combined analysis of TN cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC) (n=3,566) identified a genome-wide significant association between rs8170 and TN breast cancer risk [OR=1.25, 95% CI 1.18 – 1.33, p=3.31 × 10-13]. Thus, 19p13.1 is the first triple negative-specific breast cancer risk locus and the first locus specific to a histological subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple negative tumors and other subtypes likely arise through distinct etiologic pathways. PMID:22331459

  16. The serotonin transporter gene locus in late-life major depressive disorder.

    PubMed

    Seripa, Davide; Panza, Francesco; D'Onofrio, Grazia; Paroni, Giulia; Bizzarro, Alessandra; Fontana, Andrea; Paris, Francesco; Cascavilla, Leandro; Copetti, Massimiliano; Masullo, Carlo; Pilotto, Alberto

    2013-01-01

    Polymorphism C in the solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4) gene has been variously associated with major depressive disorder (MDD). To the best of our knowledge, no data were reported regarding a role of SLC6A4 in late-life MDD. The aim of this study was to explore the possible involvement of the SLC6A4 locus in patients with late-life MDD by means of a haplotype-tagged approach. Case-control study. Older patients attending a geriatric unit. A total of 218 patients with late-life MDD (61 men and 157 women) age 65 to 92 years (76.29 ± 6.53 years) and 363 depression-free healthy subjects (156 men and 207 women) age 41 to 65 years (48.33 ± 5.94 years). Genotyping and haplotype estimation of the three markers rs4795541, rs140701, and rs3813034 spanning a 39-kb block the SLC6A4 locus. Diagnoses of late-life MDD, mild cognitive impairment, Alzheimer disease, vascular dementia, and other dementing diseases were made using current clinical criteria. No significant differences were observed in allele or genotype distribution for the three SLC6A4 markers across the study groups. Because the comparison group could not be matched for age, a sensitivity analysis for the misclassification of controls was performed according to different scenarios. For each simulated scenario, the same nonsignificant result was observed. However, the results are limited to late-life MDD that is specifically not associated with cognitive impairment, and there was limited power for detecting very small effect sizes. Our findings suggested that the SLC6A4 locus play a minor role, if any, in the pathogenesis of late-life MDD. Also, tempering our conclusions, we were unable to account for population stratification, recurrence or chronicity of depression, nor the influence of coexisting medical, cognitive, and psychosocial stressors. Copyright © 2013 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.

  17. External locus of control contributes to racial disparities in memory and reasoning training gains in ACTIVE.

    PubMed

    Zahodne, Laura B; Meyer, Oanh L; Choi, Eunhee; Thomas, Michael L; Willis, Sherry L; Marsiske, Michael; Gross, Alden L; Rebok, George W; Parisi, Jeanine M

    2015-09-01

    Racial disparities in cognitive outcomes may be partly explained by differences in locus of control. African Americans report more external locus of control than non-Hispanic Whites, and external locus of control is associated with poorer health and cognition. The aims of this study were to compare cognitive training gains between African American and non-Hispanic White participants in the Advanced Cognitive Training for Independent and Vital Elderly (ACTIVE) study and determine whether racial differences in training gains are mediated by locus of control. The sample comprised 2,062 (26% African American) adults aged 65 and older who participated in memory, reasoning, or speed training. Latent growth curve models evaluated predictors of 10-year cognitive trajectories separately by training group. Multiple group modeling examined associations between training gains and locus of control across racial groups. Compared to non-Hispanic Whites, African Americans evidenced less improvement in memory and reasoning performance after training. These effects were partially mediated by locus of control, controlling for age, sex, education, health, depression, testing site, and initial cognitive ability. African Americans reported more external locus of control, which was associated with smaller training gains. External locus of control also had a stronger negative association with reasoning training gain for African Americans than for Whites. No racial difference in training gain was identified for speed training. Future intervention research with African Americans should test whether explicitly targeting external locus of control leads to greater cognitive improvement following cognitive training.

  18. A new and simple method to construct root locus of general fractional-order systems.

    PubMed

    Patil, Mukesh D; Vyawahare, Vishwesh A; Bhole, Manisha K

    2014-03-01

    Recently fractional-order (FO) differential equations are widely used in the areas of modeling and control. They are multivalued in nature hence their stability is defined using Riemann surfaces. The stability analysis of FO linear systems using the technique of Root Locus is the main focus of this paper. Procedure to plot root locus of FO systems in s-plane has been proposed by many authors, which are complicated, and analysis using these methods is also difficult and incomplete. In this paper, we have proposed a simple method of plotting root locus of FO systems. In the proposed method, the FO system is transformed into its integer-order counterpart and then root locus of this transformed system is plotted. It is shown with the help of examples that the root locus of this transformed system (which is obviously very easy to plot) has exactly the same shape and structure as the root locus of the original FO system. So stability of the FO system can be directly deduced and analyzed from the root locus of the transformed IO system. This proposed procedure of developing and analyzing the root locus of FO systems is much easier and straightforward than the existing methods suggested in the literature. This root locus plot is used to comment about the stability of FO system. It also gives the range for the amplifier gain k required to maintain this stability. The reliability of the method is verified with analytical calculations.

  19. Relationship of field dependence/independence with learning styles and locus of control among registered nurses.

    PubMed

    Murphy, P H

    1993-06-01

    This study investigated the relations among scores on field dependence/independence, learning styles, and locus of control for 199 Registered Nurses. Hypotheses were that nurses with higher scores on field independence would score higher on internal locus of control and nurses with scores on concrete learning styles would score higher on field independence and internal locus of control. The Group Embedded Figures Test, Learning Style Inventory, and the Internal-External Scale, and a demographic questionnaire were administered. Analysis showed that nurses were field dependent, used the Reflective Observation mode of learning, displayed abstract and active learning styles, and scored as internal on the measure of locus of control.

  20. External locus of control contributes to racial disparities in memory and reasoning training gains in ACTIVE

    PubMed Central

    Zahodne, Laura B.; Meyer, Oanh L.; Choi, Eunhee; Thomas, Michael L.; Willis, Sherry L.; Marsiske, Michael; Gross, Alden L.; Rebok, George W.; Parisi, Jeanine M.

    2015-01-01

    Racial disparities in cognitive outcomes may be partly explained by differences in locus of control. African Americans report more external locus of control than non-Hispanic Whites, and external locus of control is associated with poorer health and cognition. The aims of this study were to compare cognitive training gains between African American and non-Hispanic White participants in the Advanced Cognitive Training for Independent and Vital Elderly (ACTIVE) study and determine whether racial differences in training gains are mediated by locus of control. The sample comprised 2,062 (26% African American) adults aged 65 and older who participated in memory, reasoning, or speed training. Latent growth curve models evaluated predictors of 10-year cognitive trajectories separately by training group. Multiple group modeling examined associations between training gains and locus of control across racial groups. Compared to non-Hispanic Whites, African Americans evidenced less improvement in memory and reasoning performance after training. These effects were partially mediated by locus of control, controlling for age, sex, education, health, depression, testing site, and initial cognitive ability. African Americans reported more external locus of control, which was associated with smaller training gains. External locus of control also had a stronger negative association with reasoning training gain for African Americans than for Whites. No racial difference in training gain was identified for speed training. Future intervention research with African Americans should test whether explicitly targeting external locus of control leads to greater cognitive improvement following cognitive training. PMID:26237116

  1. Mox: a novel modifier of the tomato Xa locus.

    PubMed

    Peterson, P W; Yoder, J I

    1995-01-01

    We have isolated a novel mutation that caused variegated leaf color in a tomato plant which had multiple maize Ac transposable elements and the tomato Xa allele. Xa is a previously characterized semi-dominant mutation that causes tomato leaves to be bright yellow when heterozygous (Xa/xa+). The mutation responsible for the new phenotype was named Mox (Modifier of Xa). The Mox mutation modified the Xa/xa+ yellow leaf phenotype in two ways: it compensated for the Xa allele resulting in a plant with a wildtype green color, and it caused somatic variegation which appeared as white and yellow sectors on the green background. Somatic variegation was visible only if the plant contained both the Mox and Xa loci. Genetic studies indicated that the Mox locus was linked in repulsion to Xa and that the Mox locus was genetically transmitted at a reduced frequency through the male gamete. Molecular characterization of the Ac elements in lines segregating for Mox identified an Ac insertion that appeared to cosegregate with Mox variegation. We propose a model in which the Mox mutation consists of a duplication of the xa+ allele and subsequent Ac-induced breakage of the duplicated region causes variegation.

  2. A familial venous malformation locus is on chromosome 9p

    SciTech Connect

    Boon, L.M.; Mulliken, J.B.; Vikkula, M.

    1994-09-01

    Venous malformation is the most common vascular malformation affecting 0.2% of the population. Depending upon size and location, these slow-flow lesions may cause pain, anatomic distortion and threaten life. Most venous malformations occur sporadically and present as solitary lesions. For this reason, determining their pathogenic bases has proven elusive. However, venous malformations also occur in several rare syndromes, some of which demonstrate Mendelian inheritance. As a first step towards identifying the pathogenic bases for these lesions, we have mapped a locus for an autosomal dominant disorder in a three generation family that manifests as multiple cutaneous and mucosal venous malformations. This locus lies within a 24.5 cM interval on chromosome 9p, defined by the markers D9S157 and D9S163. A maximum LOD score of 4.11 at {theta} = 0.05 is obtained with several markers within the interval. The interferon gene cluster, which has previously been implicated in angiogenesis, and the multiple tumor suppressor gene, responsible for several types of malignant tumors, also lie within this interval and are potential candidates.

  3. Cynomolgus macaque (Macaca fascicularis) immunoglobulin heavy chain locus description.

    PubMed

    Yu, Guo-Yun; Mate, Suzanne; Garcia, Karla; Ward, Michael D; Brueggemann, Ernst; Hall, Matthew; Kenny, Tara; Sanchez-Lockhart, Mariano; Lefranc, Marie-Paule; Palacios, Gustavo

    2016-07-01

    Cynomolgus macaques (Macaca fascicularis) have become an important animal model for biomedical research. In particular, it is the animal model of choice for the development of vaccine candidates associated with emerging dangerous pathogens. Despite their increasing importance as animal models, the cynomolgus macaque genome is not fully characterized, hindering molecular studies for this model. More importantly, the lack of knowledge about the immunoglobulin (IG) locus organization directly impacts the analysis of the humoral response in cynomolgus macaques. Recent advances in next generation sequencing (NGS) technologies to analyze IG repertoires open the opportunity to deeply characterize the humoral immune response. However, the IG locus organization for the animal is required to completely dissect IG repertoires. Here, we describe the localization and organization of the rearranging IG heavy (IGH) genes on chromosome 7 of the cynomolgus macaque draft genome. Our annotation comprises 108 functional genes which include 63 variable (IGHV), 38 diversity (IGHD), and 7 joining (IGHJ) genes. For validation, we provide RNA transcript data for most of the IGHV genes and all of the annotated IGHJ genes, as well as proteomic data to validate IGH constant genes. The description and annotation of the rearranging IGH genes for the cynomolgus macaques will significantly facilitate scientific research. This is particularly relevant to dissect the immune response during vaccination or infection with dangerous pathogens such as Ebola, Marburg and other emerging pathogens where non-human primate models play a significant role for countermeasure development.

  4. Geographic distribution of haplotype diversity at the bovine casein locus

    PubMed Central

    Jann, Oliver C; Ibeagha-Awemu, Eveline M; Özbeyaz, Ceyhan; Zaragoza, Pilar; Williams, John L; Ajmone-Marsan, Paolo; Lenstra, Johannes A; Moazami-Goudarzi, Katy; Erhardt, Georg

    2004-01-01

    The genetic diversity of the casein locus in cattle was studied on the basis of haplotype analysis. Consideration of recently described genetic variants of the casein genes which to date have not been the subject of diversity studies, allowed the identification of new haplotypes. Genotyping of 30 cattle breeds from four continents revealed a geographically associated distribution of haplotypes, mainly defined by frequencies of alleles at CSN1S1 and CSN3. The genetic diversity within taurine breeds in Europe was found to decrease significantly from the south to the north and from the east to the west. Such geographic patterns of cattle genetic variation at the casein locus may be a result of the domestication process of modern cattle as well as geographically differentiated natural or artificial selection. The comparison of African Bos taurus and Bos indicus breeds allowed the identification of several Bos indicus specific haplotypes (CSN1S1*C-CSN2*A2-CSN3*AI/CSN3*H) that are not found in pure taurine breeds. The occurrence of such haplotypes in southern European breeds also suggests that an introgression of indicine genes into taurine breeds could have contributed to the distribution of the genetic variation observed. PMID:15040901

  5. Drosophila histone locus bodies form by hierarchical recruitment of components

    PubMed Central

    White, Anne E.; Burch, Brandon D.; Yang, Xiao-cui; Gasdaska, Pamela Y.; Dominski, Zbigniew; Marzluff, William F.

    2011-01-01

    Nuclear bodies are protein- and RNA-containing structures that participate in a wide range of processes critical to genome function. Molecular self-organization is thought to drive nuclear body formation, but whether this occurs stochastically or via an ordered, hierarchical process is not fully understood. We addressed this question using RNAi and proteomic approaches in Drosophila melanogaster to identify and characterize novel components of the histone locus body (HLB), a nuclear body involved in the expression of replication-dependent histone genes. We identified the transcription elongation factor suppressor of Ty 6 (Spt6) and a homologue of mammalian nuclear protein of the ataxia telangiectasia–mutated locus that is encoded by the homeotic gene multisex combs (mxc) as novel HLB components. By combining genetic manipulation in both cell culture and embryos with cytological observations of Mxc, Spt6, and the known HLB components, FLICE-associated huge protein, Mute, U7 small nuclear ribonucleoprotein, and MPM-2 phosphoepitope, we demonstrated sequential recruitment and hierarchical dependency for localization of factors to HLBs during development, suggesting that ordered assembly can play a role in nuclear body formation. PMID:21576393

  6. The locus for bovine dilated cardiomyopathy maps to chromosome 18.

    PubMed

    Guziewicz, K E; Owczarek-Lipska, M; Küffer, J; Schelling, C; Tontis, A; Denis, C; Eggen, A; Leeb, T; Dolf, G; Braunschweig, M H

    2007-06-01

    Bovine dilated cardiomyopathy (BDCMP) is a severe and terminal disease of the heart muscle observed in Holstein-Friesian cattle over the last 30 years. There is strong evidence for an autosomal recessive mode of inheritance for BDCMP. The objective of this study was to genetically map BDCMP, with the ultimate goal of identifying the causative mutation. A whole-genome scan using 199 microsatellite markers and one SNP revealed an assignment of BDCMP to BTA18. Fine-mapping on BTA18 refined the candidate region to the MSBDCMP06-BMS2785 interval. The interval containing the BDCMP locus was confirmed by multipoint linkage analysis using the software loki. The interval is about 6.7 Mb on the bovine genome sequence (Btau 3.1). The corresponding region of HSA19 is very gene-rich and contains roughly 200 genes. Although telomeric of the marker interval, TNNI3 is a possible positional and a functional candidate for BDCMP given its involvement in a human form of dilated cardiomyopathy. Sequence analysis of TNNI3 in cattle revealed no mutation in the coding sequence, but there was a G-to-A transition in intron 6 (AJ842179:c.378+315G>A). The analysis of this SNP using the study's BDCMP pedigree did not conclusively exclude TNNI3 as a candidate gene for BDCMP. Considering the high density of genes on the homologous region of HSA19, further refinement of the interval on BTA18 containing the BDCMP locus is needed.

  7. The Locus analytical framework for indoor localization and tracking applications

    NASA Astrophysics Data System (ADS)

    Segou, Olga E.; Thomopoulos, Stelios C. A.

    2015-05-01

    Obtaining location information can be of paramount importance in the context of pervasive and context-aware computing applications. Many systems have been proposed to date, e.g. GPS that has been proven to offer satisfying results in outdoor areas. The increased effect of large and small scale fading in indoor environments, however, makes localization a challenge. This is particularly reflected in the multitude of different systems that have been proposed in the context of indoor localization (e.g. RADAR, Cricket etc). The performance of such systems is often validated on vastly different test beds and conditions, making performance comparisons difficult and often irrelevant. The Locus analytical framework incorporates algorithms from multiple disciplines such as channel modeling, non-uniform random number generation, computational geometry, localization, tracking and probabilistic modeling etc. in order to provide: (a) fast and accurate signal propagation simulation, (b) fast experimentation with localization and tracking algorithms and (c) an in-depth analysis methodology for estimating the performance limits of any Received Signal Strength localization system. Simulation results for the well-known Fingerprinting and Trilateration algorithms are herein presented and validated with experimental data collected in real conditions using IEEE 802.15.4 ZigBee modules. The analysis shows that the Locus framework accurately predicts the underlying distribution of the localization error and produces further estimates of the system's performance limitations (in a best-case/worst-case scenario basis).

  8. Single locus complementary sex determination in Hymenoptera: an "unintelligent" design?

    PubMed Central

    van Wilgenburg, Ellen; Driessen, Gerard; Beukeboom, Leo W

    2006-01-01

    The haplodiploid sex determining mechanism in Hymenoptera (males are haploid, females are diploid) has played an important role in the evolution of this insect order. In Hymenoptera sex is usually determined by a single locus, heterozygotes are female and hemizygotes are male. Under inbreeding, homozygous diploid and sterile males occur which form a genetic burden for a population. We review life history and genetical traits that may overcome the disadvantages of single locus complementary sex determination (sl-CSD). Behavioural adaptations to avoid matings between relatives include active dispersal from natal patches and mating preferences for non-relatives. In non-social species, temporal and spatial segregation of male and female offspring reduces the burden of sl-CSD. In social species, diploid males are produced at the expense of workers and female reproductives. In some social species, diploid males and diploid male producing queens are killed by workers. Diploid male production may have played a role in the evolution or maintenance of polygyny (multiple queens) and polyandry (multiple mating). Some forms of thelytoky (parthenogenetic female production) increase homozygosity and are therefore incompatible with sl-CSD. We discuss a number of hypothetical adaptations to sl-CSD which should be considered in future studies of this insect order. PMID:16393347

  9. A novel locus for X-linked retinitis pigmentosa.

    PubMed

    Tong, Zongzhong; Yang, Zhenglin; Meyer, J Jay; McInnes, Allen W; Xue, Lai; Azimi, Asif M; Baird, Jenn; Zhao, Yu; Pearson, Erik; Wang, Changguan; Chen, Yali; Zhang, Kang

    2006-07-01

    Retinitis pigmentosa (RP) is the most prevalent group of inherited retinopathies and demonstrates considerable clinical and genetic heterogeneity, with wide variations in disease severity, progression, and gene involvement. We studied a large family with RP to determine the pattern of inheritance and to identify the disease-causing gene/locus. Ophthalmic examination was performed on 35 family members to identify affected individuals and carriers and to characterise the disease phenotype. Genetic linkage analysis was performed using short tandem repeat (STR) polymorphic markers encompassing the known loci for Xlinked RP (xlRP) including RP2, RP3, RP6, RP23, and RP24. Mutation screening was performed by direct sequencing of PCR-amplified genomic DNA of the RP2 and RPGR genes of the affected individuals. A highly penetrant, X-linked form of RP was observed in this family. Age of onset was from 5 to 8 years and visual acuity ranged from 20/25 in children to light perception in older adults. Linkage analysis and direct sequencing showed that no known loci/genes were associated with the phenotype in this kindred. A novel disease gene locus/loci is responsible for the xlRP phenotype in this family.

  10. [Locus of control in girls with anorexia readiness syndrome].

    PubMed

    Jaros, Katarzyna; Oszwa, Urszula

    2014-01-01

    The aim of the research was to indicate whether there are differences between locus of control (LOC) in girls with anorexia readiness syndrome (ARS) and without this syndrome. There was also a question about the relationship between LOC and the tendency to respond in incorrect attitudes towards food, eating and their bodies under stress. The sample consisted of girls aged 13-18 years randomly selected from five public Polish middle and high schools. Tools: 1) Eating Attitudes Questionnaire (EAQ) by B. Ziółkowska; 2) Locus of Control Questionnaire (LOCQ) by G. Krasowicz, A. Kurzyp-Wojnarska, to assess LOC of the subjects. The criterion group (N=23) was formed by girls who received high score in EAQ (signs of ARS) in the first stage of research (N=189). The control group (N = 23) were girls who received a low score in EAQ (no signs of ARS). Subjects with ARS were characterized by more external LOC than girls without any signs of this syndrome (t = -2.898; p < 0.01). The results did not confirm the hypothesis about the relationship between LOC and the tendency to respond by abnormal attitude to eating and own body in difficult situations in both groups. In pathogenesis of ARS where anorexic behaviors can become a way to a regain lost control, LOC may play a role as a mediating variable rather than a direct determinant of this syndrome.

  11. Role of Oculoproprioception in Coding the Locus of Attention.

    PubMed

    Odoj, Bartholomaeus; Balslev, Daniela

    2016-03-01

    The most common neural representations for spatial attention encode locations retinotopically, relative to center of gaze. To keep track of visual objects across saccades or to orient toward sounds, retinotopic representations must be combined with information about the rotation of one's own eyes in the orbits. Although gaze input is critical for a correct allocation of attention, the source of this input has so far remained unidentified. Two main signals are available: corollary discharge (copy of oculomotor command) and oculoproprioception (feedback from extraocular muscles). Here we asked whether the oculoproprioceptive signal relayed from the somatosensory cortex contributes to coding the locus of attention. We used continuous theta burst stimulation (cTBS) over a human oculoproprioceptive area in the postcentral gyrus (S1EYE). S1EYE-cTBS reduces proprioceptive processing, causing ∼1° underestimation of gaze angle. Participants discriminated visual targets whose location was cued in a nonvisual modality. Throughout the visual space, S1EYE-cTBS shifted the locus of attention away from the cue by ∼1°, in the same direction and by the same magnitude as the oculoproprioceptive bias. This systematic shift cannot be attributed to visual mislocalization. Accuracy of open-loop pointing to the same visual targets, a function thought to rely mainly on the corollary discharge, was unchanged. We argue that oculoproprioception is selective for attention maps. By identifying a potential substrate for the coupling between eye and attention, this study contributes to the theoretical models for spatial attention.

  12. Novel Locus FER Is Associated With Serum HMW Adiponectin Levels

    PubMed Central

    Qi, Lu; Menzaghi, Claudia; Salvemini, Lucia; De Bonis, Concetta; Trischitta, Vincenzo; Hu, Frank B.

    2011-01-01

    OBJECTIVE High molecular weight (HMW) adiponectin is a predominant isoform of circulating adiponectin and has been related to type 2 diabetes. Previous linkage studies suggest that different genetic components might be involved in determining HMW and total adiponectin levels. RESEARCH DESIGN AND METHODS We performed a genome-wide association study (GWAS) of serum HMW adiponectin levels in individuals of European ancestry drawn from the Nurses’ Health Study (NHS) (N = 1,591). The single nucleotide polymorphisms (SNPs) identified in the GWAS analysis were replicated in an independent cohort of Europeans (N = 626). We examined the associations of the identified variations with diabetes risk and metabolic syndrome. RESULTS We identified a novel locus near the FER gene (5q21) at a genome-wide significance level, best represented by SNP rs10447248 (P = 4.69 × 10−8). We also confirmed that variations near the adiponectin-encoding ADIPOQ locus (3q27) were related to serum HMW adiponectin levels. In addition, we found that FER SNP rs10447248 was related to HDL cholesterol levels (P = 0.009); ADIPOQ variation was associated with fasting glucose (P = 0.04), HDL cholesterol (P = 0.04), and a metabolic syndrome score (P = 0.002). CONCLUSIONS Our results suggest that different loci may be involved in regulation of circulating HMW adiponectin levels and provide novel insight into the mechanisms that affect HMW adiponectin homeostasis. PMID:21700879

  13. Synaptic potentials in locus coeruleus neurons in brain slices.

    PubMed

    Williams, J T; Bobker, D H; Harris, G C

    1991-01-01

    Neurons of the locus coeruleus (LC) fire action potentials spontaneously in vitro in the absence of any stimulation. This spontaneous activity is thought to arise from intrinsic membrane properties that include a balance between at least two ion conductances. One is a persistent inward sodium current that is active near the threshold for action potential generation. The second is a calcium-dependent potassium current that is activated following the entry of calcium during the action potential, is responsible for the after-hyperpolarization following the action potential, and decays over a period of 1-2 sec following the action potential. The spontaneous activity of LC neurons can be altered by both excitatory and inhibitory synaptic inputs. One excitatory input has been described that is mediated by glutamate receptors of both the non-NMDA and NMDA subtypes. Inhibitory synaptic potentials include those mediated by GABA (acting on GABAA-receptors), glycine (acting on a strychnine-sensitive receptor) and noradrenaline (acting on alpha 2-adrenoceptors). The presence of synaptic potentials mediated by these transmitters, studied in vitro, correlate with studies made in vivo and with histochemical identification of synaptic inputs to the locus coeruleus.

  14. A new risk variant for multiple sclerosis at the immunoglobulin heavy chain locus associates with intrathecal IgG, IgM index and oligoclonal bands.

    PubMed

    Delgado-García, Mercedes; Matesanz, Fuencisla; Alcina, Antonio; Fedetz, María; García-Sánchez, María Isabel; Ruiz-Peña, Juan Luis; Fernández, Óscar; Pinto Medel, María Jesús; Leyva, Laura; Arnal, Carmen; Delgado, Concepción; López Guerrero, José Antonio; González-Pérez, Antonio; Sáez, María E; Villar, Luisa María; Álvarez-Cermeño, José Carlos; Picón, Carmen; Arroyo, Rafael; Varadé, Jezabel; Urcelay, Elena; Izquierdo, Guillermo; Lucas, Miguel

    2015-08-01

    Recent findings have shown a correlation between the intrathecal IgG index and variants at the immunoglobulin heavy chain (IGHC) locus in patients with multiple sclerosis (MS). The objective of this paper is to analyse the association of the locus with MS susceptibility and its relationship with intrathecal immunoglobulin (Ig) parameters. We genotyped the rs11621145 variant, located at the IGHC locus, in 2726 patients with MS and 2133 healthy controls. Associations of intrathecal IgG and IgM indexes with rs11621145 were analysed by linear regression analysis in 538 MS patients. We found that rs11621145 showed statistically significant evidence for association with susceptibility to MS (odds ratio = 0.69, p = 1.053E-09), though validation of this result in additional cohorts would be desirable. We confirmed the association between the IgG index and the rs11621145 (p = 6.85E-07, Beta = 0.207). Furthermore, rs11621145 was inversely correlated with IgM index (p = 7.24E-04, Beta = -0.277), and therefore marks a decreased likelihood of presenting IgM oligoclonal bands (odds ratio = 0.38, p = 2.35E-06). Our results suggest that the polymorphism of the IGHC locus could be altering the switching of the Ig isotype in B cells and it may be interfering with T-dependent and T-independent antibody responses. © The Author(s), 2014.

  15. Two-locus admixture linkage analysis of bipolar and unipolar affective disorder supports the presence of susceptibility loci on chromosomes 11p15 and 21q22

    SciTech Connect

    Smyth, C.; Kalsi, G.; O`Neill, J.

    1997-02-01

    Following a report of a linkage study that yielded evidence for a susceptibility locus for bipolar affective disorder on the long arm of chromosome 21, we studied 23 multiply affected pedigrees collected from Iceland and the UK, using the markers PFKL, D21S171, and D21S49. Counting only bipolar cases as affected, a two-point LOD of 1.28 was obtained using D21S171 ({theta} = 0.01, {alpha} = 0.35), with three Icelandic families producing LODs of 0.63, 0.62, and 1.74 (all at {theta} = 0.0). Affected sib pair analysis demonstrated increased allele sharing at D21S171 (P = 0.001) when unipolar cases were also considered affected. The same set of pedigrees had previously been typed for a tyrosine hydroxylase gene (TH) polymorphism at 11p15 and had shown some moderate evidence for linkage. When information from TH and the 21q markers was combined in a two-locus admixture analysis, an overall admixture LOD of 3.87 was obtained using the bipolar affection model. Thus the data are compatible with the hypothesis that a locus at or near TH influences susceptibility in some pedigrees, while a locus near D21S171 is active in others. Similar analyses in other datasets should be carried out to confirm or refute our tentative finding. 66 refs., 3 tabs.

  16. Leiomyosarcoma: computed tomographic findings

    SciTech Connect

    McLeod, A.J.; Zornoza, J.; Shirkhoda, A.

    1984-07-01

    The computed tomographic (CT) findings in 118 patients with the diagnosis of leiomyosarcoma were reviewed. The tumor masses visualized in these patients were often quite large; extensive necrotic or cystic change was a frequent finding. Calcification was not observed in these tumors. The liver was the most common site of metastasis in these patients, with marked necrosis of the liver lesions a common finding. Other manifestations of tumor spread included pulmonary metastases, mesenteric or omental metastases, retroperitoneal lymphadenopathy, soft-tissue metastases, bone metastases, splenic metastases, and ascites. Although the CT appearance of leiomyosarcoma is not specific, these findings, when present, suggest consideration of this diagnosis.

  17. Evolutionary method for finding communities in bipartite networks.

    PubMed

    Zhan, Weihua; Zhang, Zhongzhi; Guan, Jihong; Zhou, Shuigeng

    2011-06-01

    An important step in unveiling the relation between network structure and dynamics defined on networks is to detect communities, and numerous methods have been developed separately to identify community structure in different classes of networks, such as unipartite networks, bipartite networks, and directed networks. Here, we show that the finding of communities in such networks can be unified in a general framework-detection of community structure in bipartite networks. Moreover, we propose an evolutionary method for efficiently identifying communities in bipartite networks. To this end, we show that both unipartite and directed networks can be represented as bipartite networks, and their modularity is completely consistent with that for bipartite networks, the detection of modular structure on which can be reformulated as modularity maximization. To optimize the bipartite modularity, we develop a modified adaptive genetic algorithm (MAGA), which is shown to be especially efficient for community structure detection. The high efficiency of the MAGA is based on the following three improvements we make. First, we introduce a different measure for the informativeness of a locus instead of the standard deviation, which can exactly determine which loci mutate. This measure is the bias between the distribution of a locus over the current population and the uniform distribution of the locus, i.e., the Kullback-Leibler divergence between them. Second, we develop a reassignment technique for differentiating the informative state a locus has attained from the random state in the initial phase. Third, we present a modified mutation rule which by incorporating related operations can guarantee the convergence of the MAGA to the global optimum and can speed up the convergence process. Experimental results show that the MAGA outperforms existing methods in terms of modularity for both bipartite and unipartite networks.

  18. A candidate syntenic genetic locus is associated with voluntary exercise levels in mice and humans.

    PubMed

    Kostrzewa, E; Brandys, M K; van Lith, H A; Kas, M J H

    2015-01-01

    Individual levels of physical activity, and especially of voluntary physical exercise, highly contribute to the susceptibility for developing metabolic, cardiovascular diseases, and potentially to psychiatric disorders. Here, we applied a cross-species approach to explore a candidate genetic region for voluntary exercise levels. First, a panel of mouse chromosome substitution strains was used to map a genomic region on mouse chromosome 2 that contributes to voluntary wheel running levels - a behavioral readout considered a model of voluntary exercise in humans. Subsequently, we tested the syntenic region (HSA20: 51,212,545-55,212,986) in a human sample (Saint Thomas Twin Register; n=3038) and found a significant association between voluntary exercise levels (categorized into excessive and non-excessive exercise) and an intergenic SNP rs459465 (adjusted P-value of 0.001). Taking under consideration the methodological challenges embedded in this translational approach in the research of complex phenotypes, we wanted to further test the validity of this finding. Therefore, we repeated the analysis in an independent human population (ALSPAC data set; n=2557). We found a significant association of excessive exercise with two SNPs in the same genomic region (rs6022999, adjusted P-value of P=0.011 and rs6092090, adjusted P-value of 0.012). We explored the locus for possible candidate genes by means of literature search and bioinformatics analysis of gene function and of trans-regulatory elements. We propose three potential human candidate genes for voluntary physical exercise levels (MC3R, CYP24A1, and GRM8). To conclude, the identified genetic variance in the human locus 20q13.2 may affect voluntary exercise levels.

  19. Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

    PubMed Central

    Chase, A; Leung, W; Tapper, W; Jones, A V; Knoops, L; Rasi, C; Forsberg, L A; Guglielmelli, P; Zoi, K; Hall, V; Chiecchio, L; Eder-Azanza, L; Bryant, C; Lannfelt, L; Docherty, L; White, H E; Score, J; Mackay, D J G; Vannucchi, A M; Dumanski, J P; Cross, N C P

    2015-01-01

    Acquired uniparental disomy (aUPD) is a common finding in myeloid malignancies and typically acts to convert a somatically acquired heterozygous mutation to homozygosity. We sought to identify the target of chromosome 14 aUPD (aUPD14), a recurrent abnormality in myeloid neoplasms and population cohorts of elderly individuals. We identified 29 cases with aUPD14q that defined a minimal affected region (MAR) of 11.2 Mb running from 14q32.12 to the telomere. Exome sequencing (n=7) did not identify recurrently mutated genes, but methylation-specific PCR at the imprinted MEG3-DLK1 locus located within the MAR demonstrated loss of maternal chromosome 14 and gain of paternal chromosome 14 (P<0.0001), with the degree of methylation imbalance correlating with the level of aUPD (r=0.76; P=0.0001). The absence of driver gene mutations in the exomes of three individuals with aUPD14q but no known haematological disorder suggests that aUPD14q may be sufficient to drive clonal haemopoiesis. Analysis of cases with both aUPD14q and JAK2 V617F (n=11) indicated that aUPD14q may be an early event in some cases but a late event in others. We conclude that aUPD14q is a recurrent abnormality that targets an imprinted locus and may promote clonal haemopoiesis either as an initiating event or as a secondary change. PMID:26114957

  20. Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus.

    PubMed

    Chase, A; Leung, W; Tapper, W; Jones, A V; Knoops, L; Rasi, C; Forsberg, L A; Guglielmelli, P; Zoi, K; Hall, V; Chiecchio, L; Eder-Azanza, L; Bryant, C; Lannfelt, L; Docherty, L; White, H E; Score, J; Mackay, D J G; Vannucchi, A M; Dumanski, J P; Cross, N C P

    2015-10-01

    Acquired uniparental disomy (aUPD) is a common finding in myeloid malignancies and typically acts to convert a somatically acquired heterozygous mutation to homozygosity. We sought to identify the target of chromosome 14 aUPD (aUPD14), a recurrent abnormality in myeloid neoplasms and population cohorts of elderly individuals. We identified 29 cases with aUPD14q that defined a minimal affected region (MAR) of 11.2 Mb running from 14q32.12 to the telomere. Exome sequencing (n=7) did not identify recurrently mutated genes, but methylation-specific PCR at the imprinted MEG3-DLK1 locus located within the MAR demonstrated loss of maternal chromosome 14 and gain of paternal chromosome 14 (P<0.0001), with the degree of methylation imbalance correlating with the level of aUPD (r=0.76; P=0.0001). The absence of driver gene mutations in the exomes of three individuals with aUPD14q but no known haematological disorder suggests that aUPD14q may be sufficient to drive clonal haemopoiesis. Analysis of cases with both aUPD14q and JAK2 V617F (n=11) indicated that aUPD14q may be an early event in some cases but a late event in others. We conclude that aUPD14q is a recurrent abnormality that targets an imprinted locus and may promote clonal haemopoiesis either as an initiating event or as a secondary change.

  1. Phloem long-distance delivery of FLOWERING LOCUS T (FT) to the apex.

    PubMed

    Yoo, Soo-Cheul; Chen, Cheng; Rojas, Maria; Daimon, Yasufumi; Ham, Byung-Kook; Araki, Takashi; Lucas, William J

    2013-08-01

    Cucurbita moschata FLOWERING LOCUS T-LIKE 2 (hereafter FTL2) and Arabidopsis thaliana (Arabidopsis) FLOWERING LOCUS T (FT), components of the plant florigenic signaling system, move long-distance through the phloem from source leaves to the vegetative apex where they mediate floral induction. The mechanisms involved in long-distance trafficking of FT/FTL2 remain to be elucidated. In this study, we identified the critical motifs on both FT and FTL2 required for cell-to-cell trafficking through mutant analyses using a zucchini yellow mosaic virus expression vector. Western blot analysis, performed on phloem sap collected from just beneath the vegetative apex of C. moschata plants, established that all mutant proteins tested retained the ability to enter the phloem translocation stream. However, immunolocalization studies revealed that a number of these FTL2/FT mutants were defective in the post-phloem zone, suggesting that a regulation mechanism for FT trafficking exists in the post-phloem unloading step. The selective movements of FT/FTL2 were further observed by microinjection and trichome rescue studies, which revealed that FT/FTL2 has the ability to dilate plasmodesmata microchannels during the process of cell-to-cell trafficking, and various mutants were compromised in their capacity to traffic through plasmodesmata. Based on these findings, a model is presented to account for the mechanism by which FT/FTL2 enters the phloem translocation stream and subsequently exits the phloem and enters the apical tissue, where it initiates the vegetative to floral transition.

  2. A novel locus of resistance to severe malaria in a region of ancient balancing selection.

    PubMed

    Band, Gavin; Rockett, Kirk A; Spencer, Chris C A; Kwiatkowski, Dominic P

    2015-10-08

    The high prevalence of sickle haemoglobin in Africa shows that malaria has been a major force for human evolutionary selection, but surprisingly few other polymorphisms have been proven to confer resistance to malaria in large epidemiological studies. To address this problem, we conducted a multi-centre genome-wide association study (GWAS) of life-threatening Plasmodium falciparum infection (severe malaria) in over 11,000 African children, with replication data in a further 14,000 individuals. Here we report a novel malaria resistance locus close to a cluster of genes encoding glycophorins that are receptors for erythrocyte invasion by P. falciparum. We identify a haplotype at this locus that provides 33% protection against severe malaria (odds ratio = 0.67, 95% confidence interval = 0.60-0.76, P value = 9.5 × 10(-11)) and is linked to polymorphisms that have previously been shown to have features of ancient balancing selection, on the basis of haplotype sharing between humans and chimpanzees. Taken together with previous observations on the malaria-protective role of blood group O, these data reveal that two of the strongest GWAS signals for severe malaria lie in or close to genes encoding the glycosylated surface coat of the erythrocyte cell membrane, both within regions of the genome where it appears that evolution has maintained diversity for millions of years. These findings provide new insights into the host-parasite interactions that are critical in determining the outcome of malaria infection.

  3. Characterization of a Single Genomic Locus Encoding the Clustered Protocadherin Receptor Diversity in Xenopus tropicalis

    PubMed Central

    Etlioglu, Hakki E.; Sun, Wei; Huang, Zengjin; Chen, Wei; Schmucker, Dietmar

    2016-01-01

    Clustered protocadherins (cPcdhs) constitute the largest subgroup of the cadherin superfamily, and in mammals are grouped into clusters of α-, β-, and γ-types. Tens of tandemly arranged paralogous Pcdh genes of the Pcdh clusters generate a substantial diversity of receptor isoforms. cPcdhs are known to have important roles in neuronal development, and genetic alterations of cPcdhs have been found to be associated with several neurological diseases. Here, we present a first characterization of cPcdhs in Xenopus tropicalis. We determined and annotated all cPcdh isoforms, revealing that they are present in a single chromosomal locus. We validated a total of 96 isoforms, which we show are organized in three distinct clusters. The X. tropicalis cPcdh locus is composed of one α- and two distinct γ-Pcdh clusters (pcdh-γ1 and pcdh-γ2). Bioinformatics analyses assisted by genomic BAC clone sequencing showed that the X. tropicalis α- and γ-Pcdhs are conserved at the cluster level, but, unlike mammals, X. tropicalis does not contain a β-Pcdh cluster. In contrast, the number of γ-Pcdh isoforms has expanded, possibly due to lineage-specific gene duplications. Interestingly, the number of X. tropicalis α-Pcdhs is identical between X. tropicalis and mouse. Moreover, we find highly conserved as well as novel promoter elements potentially involved in regulating the cluster-specific expression of cPcdh isoforms. This study provides important information for the understanding of the evolutionary history of cPcdh genes and future mechanistic studies. It provides an annotated X. tropicalis cPcdh genomic map and a first molecular characterization essential for functional and comparative studies. PMID:27261006

  4. Identification of a Hashimoto thyroiditis susceptibility locus via a genome-wide comparison with Graves' disease.

    PubMed

    Oryoji, Daisuke; Ueda, Sho; Yamamoto, Ken; Yoshimura Noh, Jaeduk; Okamura, Ken; Noda, Mitsuhiko; Watanabe, Natsuko; Yoshihara, Ai; Ito, Koichi; Sasazuki, Takehiko

    2015-02-01

    Hashimoto thyroiditis (HT) and Graves' disease (GD) share some immunological features. Determining the genetic basis that distinguishes HT from GD is key for a better understanding of the differences between these two related diseases. The aim of this study was to identify a non-HLA susceptibility locus that is specific to either HT or GD. We performed a two-stage genome-wide comparison between HT and GD in Japan. During the discovery stage, we performed a logistic regression analysis adjusting for sex using 727 413 single nucleotide polymorphisms (SNPs) for 265 HT and 261 GD patients. During the replication stage, 35 SNPs were analyzed for 181 HT and 286 GD cases. A combined meta-analysis was performed using the results from these two stages. An SNP showing a genome-wide significant level was further analyzed using 1363 healthy controls to determine the specificity of susceptibility. A genome-wide direct comparison between HT and GD revealed an SNP at the VAV3 locus with genome-wide significant association signals (rs7537605: P(combined) = 3.90 × 10(-8); odds ratio(combined) = 1.77; 95% confidence interval = 1.44-2.17). An association analysis using healthy controls showed that rs7537605 is significantly associated with HT (P = 1.24 × 10(-5); odds ratio = 1.60; 95% confidence interval = 1.30-1.97) but not with GD (P = .50), suggesting that the variant specifically affects susceptibility to HT. A genome-wide direct comparison between HT and GD revealed an HT-specific variant within VAV3 in the Japanese. Considering physiological roles of VAV3, such as a guanine nucleotide exchange factor, our finding provides new insight into the molecular mechanism of HT.

  5. Effects of locus coeruleus lesions upon sleeping and waking in the rabbit.

    PubMed

    Braun, C M; Pivik, R T

    1981-12-28

    The effects of radiofrequency lesions in the region of the locus coeruleus (LC) upon sleep--waking states and behaviors were investigated in chronically implanted New Zealand White rabbits. Polygraphic recordings were taken prior to and at 5- and 14-day intervals following lesioning. In animals exhibiting absence of paradoxical sleep and the presence of bizarre motor behavior, additional recordings were taken 30 days postlesion. Prelesion sleep-wakefulness pattern data were comparable to those previously observed in intact rabbits, including the recently reported absence of sustained PS-related nuchal muscle atonia. Lesions histologically localized to the area of the locus coeruleus were of two types, i.e., those effecting bilateral destruction of greater than or equal to 80% (n = 11) or 30-50% (n = 11) of the LC. A transient period of inactivity was present immediately following lesioning, but by two weeks postlesion animals had generally regained normal waking behavioral and physiological functioning, e.g., eating, drinking and grooming behaviors had returned and respiration, micturition and general urological functioning were normal. The more extensive LC lesions were followed by increases in the proportion of total recording time spent in wakefulness, but primarily in quiet rather than active wakefulness. Sleep was fragmented by phasic muscular activation in proportion to the amount of LC destroyed. In animals with the most extensive lesions, slow wave sleep was interrupted by brief, abrupt episodes of twitching, and episodes of marked phasic muscular activation, often violent in nature, occurred following periods of slow wave sleep. The postlesion occurrence of PS was inversely related to the degree of LC destruction and, accordingly, to the presence of episodes of phasic motor activation. These results did not confirm earlier reports in other species implicating the LC in urogenital functioning and respiration, but do corroborate previous findings indicating

  6. Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q

    SciTech Connect

    Inglehearn, C.; Bhattacharya, S. ); Farrar, J.; Humphries, P. ); Denton, M. ); Gal, A. )

    1993-08-01

    In 1989 McWilliam et al. reported close linkage of the autosomal dominant retinitis pigmentosa (adRP) locus to chromosome 3q marker D3S47 in a large Irish pedigree (McWilliam et al 1989). Subsequent studies confirmed linkage in two other adRP families (Lester et al 1990; Olsson et al. 1990). Shortly afterward, utations in the rhodopsin (RHO) gene, mapping to 3q21-24, were implicated in disease causation, and it is now known that around one-third of adRP results from such mutations (Dryja et al. 1991; Sung et al. 1991; Inglchearn et al. 1992a). At that time, sequencing studies had failed to find rhodopsin mutations in the three families first linked to 3q. Several adRP families in which rhodopsin mutations had been found gave lod scores that, when pooled, had a peak of 4.47 at a theta of .12 (Inglehearn et al. 1992b). The apparent lack of mutations in families TCDM1, adRP3, and 20 together with the linkage data in these and the proved RHO-RP families, led to speculation that two adRP loci existed on chromosome 3q (Olsson et al. 1990; Inglehearn et al. 1992b). However this situation has been reversed by more recent analysis, since rhodopsin mutations have now been found in all three families. There is therefore no longer any evidence to support the hypothesis that a second adRP locus exists close to rhodopsin on chromosome 3q.

  7. Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib.

    PubMed

    Maupetit-Méhouas, Stéphanie; Mariot, Virginie; Reynès, Christelle; Bertrand, Guylène; Feillet, Francois; Carel, Jean-Claude; Simon, Dominique; Bihan, Hélène; Gajdos, Vincent; Devouge, Eve; Shenoy, Savitha; Agbo-Kpati, Placide; Ronan, Anne; Naud-Saudreau, Catherine; Lienhardt, Anne; Silve, Caroline; Linglart, Agnès

    2011-01-01

    Pseudohypoparathyroidism type Ib (PHP-Ib) is due to epigenetic changes at the imprinted GNAS locus, including loss of methylation at the A/B differentially methylated region (DMR) and sometimes at the XL and AS DMRs and gain of methylation at the NESP DMR. To investigate if quantitative measurement of the methylation at the GNAS DMRs identifies subtypes of PHP-Ib. In 19 patients with PHP-Ib and 7 controls, methylation was characterised at the four GNAS DMRs through combined bisulfite restriction analysis and quantified through cytosine specific real-time PCR in blood lymphocyte DNA. A principal component analysis using the per cent of methylation at seven cytosines of the GNAS locus provided three clusters of subjects (controls n=7, autosomal dominant PHP-Ib with loss of methylation restricted to the A/B DMR n=3, and sporadic PHP-Ib with broad GNAS methylation changes n=16) that matched perfectly the combined bisulfite restriction analysis classification. Furthermore, three sub-clusters of patients with sporadic PHP-Ib, that displayed different patterns of methylation, were identified: incomplete changes at all DMRs compatible with somatic mosaicism (n=5), profound epigenetic changes at all DMRs (n=8), and unmodified methylation at XL in contrast with the other DMRs (n=3). Interestingly, parathyroid hormone concentration at the time of diagnosis correlated with the per cent of methylation at the A/B DMR. Quantitative assessment of the methylation in blood lymphocyte DNA is of clinical relevance, allows the diagnosis of PHP-Ib, and identifies subtypes of PHP-Ib. These epigenetic findings suggest mosaicism at least in some patients.

  8. Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus.

    PubMed

    Camp, Nicola J; Lin, Wei-Yu; Bigelow, Alex; Burghel, George J; Mosbruger, Timothy L; Parry, Marina A; Waller, Rosalie G; Rigas, Sushilaben H; Tai, Pei-Yi; Berrett, Kristofer; Rajamanickam, Venkatesh; Cosby, Rachel; Brock, Ian W; Jones, Brandt; Connley, Dan; Sargent, Robert; Wang, Guoying; Factor, Rachel E; Bernard, Philip S; Cannon-Albright, Lisa; Knight, Stacey; Abo, Ryan; Werner, Theresa L; Reed, Malcolm W R; Gertz, Jason; Cox, Angela

    2016-04-01

    The findings from genome-wide association studies hold enormous potential for novel insight into disease mechanisms. A major challenge in the field is to map these low-risk association signals to their underlying functional sequence variants (FSV). Simple sequence study designs are insufficient, as the vast numbers of statistically comparable variants and a limited knowledge of noncoding regulatory elements complicate prioritization. Furthermore, large sample sizes are typically required for adequate power to identify the initial association signals. One important question is whether similar sample sizes need to be sequenced to identify the FSVs. Here, we present a proof-of-principle example of an extreme discordant design to map FSVs within the 2q33 low-risk breast cancer locus. Our approach employed DNA sequencing of a small number of discordant haplotypes to efficiently identify candidate FSVs. Our results were consistent with those from a 2,000-fold larger, traditional imputation-based fine-mapping study. To prioritize further, we used expression-quantitative trait locus analysis of RNA sequencing from breast tissues, gene regulation annotations from the ENCODE consortium, and functional assays for differential enhancer activities. Notably, we implicate three regulatory variants at 2q33 that target CASP8 (rs3769823, rs3769821 in CASP8, and rs10197246 in ALS2CR12) as functionally relevant. We conclude that nested discordant haplotype sequencing is a promising approach to aid mapping of low-risk association loci. The ability to include more efficient sequencing designs into mapping efforts presents an opportunity for the field to capitalize on the potential of association loci and accelerate translation of association signals to their underlying FSVs. Cancer Res; 76(7); 1916-25. ©2016 AACR. ©2016 American Association for Cancer Research.

  9. Evidence for a susceptibility locus for manic-depressive disorder in Xq26

    SciTech Connect

    Pekkarinen, P.; Bredbacka, P.E.; Terwilliger, J.

    1994-09-01

    Manic-depression (MD) is a severe psychiatric disorder affecting 1% of the population. Several linkage studies have provided evidence for a susceptibility locus for MD in chromosome Xq27-28. However, validity of these findings have remained unclear for several reasons: linkage has been suggested to two distinct chromosomal regions (F9 and CB-G6PD) separated by 30 cM, linkage has been found in only few of the pedigrees analyzed and ascertainment bias have probably been introduced when using classical markers like CB. The aim of our study was to analyze several markers expanding both of these regions in one extended Finnish pedigree with 13 affected individuals (bipolar or schizoaffective disorder) and without male-to-male transmission. Together 27 polymorphic X chromosomal markers were studied, 22 of them in Xq25-q28. Linkage analyses were carried out using a dominant model, 0.005 disease gene frequency, age-dependent penetrance with a maximum penetrance of 0.80 and low phenocopy rate. Two-point linkage analyses resulted in clearly negative lod scores (<-2) to almost all markers outside the chromosomal region of Xq26. Three markers DXS458, GABRA3 and G6PD, gave uninformative lod scores but respective chromosomal areas could be excluded by other markers in the vicinity. Opposite to this, several markers on Xq26 resulted in positive lod scores. A maximum lod score of 3.4 was obtained with the marker AFM205wd2 at {theta}=0.0. This marker is located about 7 cM centromeric to F9. When all published linkage data on Xq26-q28 was reanalyzed no evidence for locus heterogeneity emerged suggesting a more general significance of this DNA region in the predisposition to manic-depressive disorder.

  10. Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes.

    PubMed

    Pettigrew, Kerry A; Frinton, Emily; Nudel, Ron; Chan, May T M; Thompson, Paul; Hayiou-Thomas, Marianna E; Talcott, Joel B; Stein, John; Monaco, Anthony P; Hulme, Charles; Snowling, Margaret J; Newbury, Dianne F; Paracchini, Silvia

    2016-01-01

    Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits.

  11. Find a Nurse Practitioner

    MedlinePlus

    Find a Nurse Practitioner AANP Home MyAANP Contact Us Find an NP near me or near Search Reset I accept AANP's Terms of Use Overall Focus All Primary ... practice site(s) to NP Finder, and enjoy many more member benefits.

  12. Find a Midwife

    MedlinePlus

    ... The Find a Midwife practice locator is a web-based service that allows you to find midwifery practices in your area. It also supplies you with basic contact information like practice name, address, phone number, e-mail address, web site and a map of the area. If ...

  13. Are there gender differences in locus of control specific to alcohol dependence?

    PubMed

    McPherson, Andrew; Martin, Colin R

    2017-01-01

    To investigate gender differences in locus of control in an alcohol-dependent population. Locus of control helps to explain behaviour in terms of internal (the individual is responsible) or external (outside forces, such as significant other people or chance, are responsible) elements. Past research on gender differences in locus of control in relation to alcohol dependence has shown mixed results. There is a need then to examine gender and locus of control in relation to alcohol dependence to ascertain the veracity of any locus of control differences as a function of gender. The Multidimensional Health Locus of Control form-C was administered to clients from alcohol dependence treatment centres in the West of Scotland. Independent t-tests were carried out to assess gender differences in alcohol dependence severity and internal/external aspects of locus of control. One hundred and eighty-eight (53% females) participants were recruited from a variety of alcohol dependence treatment centres. The majority of participants (72%) came from Alcoholics Anonymous groups. Women revealed a greater internal locus of control compared with men. Women also had a greater 'significant others' locus of control score than men. Men were more reliant on 'chance' and 'doctors' than women. All these trends were not, however, statistically significant. Gender differences in relation to locus of control and alcohol dependence from past studies are ambiguous. This study also found no clear statistically significant differences in locus of control orientation as a function of gender. This article helps nurses to contextualise health behaviours as a result of internal or external forces. It also helps nursing staff to better understand alcohol dependence treatment in relation to self-efficacy and control. Moreover, it highlights an important concept in health education theory. © 2016 John Wiley & Sons Ltd.

  14. Controversial ultrasound findings.

    PubMed

    Rochon, Meredith; Eddleman, Keith

    2004-03-01

    This article has reviewed a few of the more controversial findings in the field of obstetric ultrasound. For each one evidence-based strategies for the management of affected pregnancies have been suggested, derived from what the authors believe is the best information available. In some cases, this information is very limited, which can make counseling these patients extremely difficult. Some physicians find using specific likelihood ratios helpful in these complex discussions. An example of the relative likelihood ratios for several markers of trisomy 21 is illustrated in Table 10. Although the management of each of the findings discussed in this article is different, a few generalizations can be made. To begin with, the detection of any abnormal finding on ultrasound should prompt an immediate detailed ultrasound evaluation of the fetus by someone experienced in the diagnosis of fetal anomalies. If there is more than one abnormal finding on ultrasound, if the patient is over the age of 35, or if the multiple marker screen is abnormal, an amniocentesis to rule out aneuploidy should be recommended. Of the six ultrasound findings reviewed here, the authors believe that only echogenic bowel as an isolated finding confers a high enough risk of aneuploidy to recommend an amniocentesis in a low-risk patient. The other findings in isolation in a low-risk patient seem to confer only a modest increased risk of aneuploidy, if any, and this risk is certainly less than the risk of unintended loss from amniocentesis. Wherever possible, modifiers of this risk, such as maternal age, history, and first and second multiple marker screening, should be used to define more clearly the true risk of aneuploidy. As obstetric ultrasound moves forward, particularly into the uncharted waters of clinical use of three- and four-dimensional ultrasound, one can expect a whole new crop of ultrasound findings with uncertain clinical significance. Clinicians are well advised to await well

  15. Locus of control and pain: Validity of the Form C of the Multidimensional Health Locus of Control scales when used with adolescents.

    PubMed

    Castarlenas, Elena; Solé, Ester; Racine, Mélanie; Sánchez-Rodríguez, Elisabet; Jensen, Mark P; Miró, Jordi

    2016-09-01

    The objective of this study was to examine the factor structure, reliability, and validity of the Form C of the Multidimensional Health Locus of Control scales in adolescents. A confirmatory factor analysis indicated that adequate fit of a four-factor model and the internal consistency of the scales were adequate. Criterion validity of the four scales of the Form C of the Multidimensional Health Locus of Control was also supported by significant correlations with measures of pain-related self-efficacy, anxiety, and coping strategies. The results indicate that the four Form C of the Multidimensional Health Locus of Control scale scores are reliable and valid and therefore support their use to assess pain-related locus of control beliefs in adolescents.

  16. Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.

    PubMed Central

    John, S W; Rozen, R; Scriver, C R; Laframboise, R; Laberge, C

    1990-01-01

    The codon 408 mutation (CGG----TGG, Arg----Trp) in exon 12 of the phenylalanine hydroxylase (PAH) gene occurs on haplotype 1 in French-Canadians; elsewhere this mutation (R408W) occurs on haplotype 2. A CpG dinucleotide is involved. The finding is compatible with a recurrent mutation, gene conversion, or a single recombination between haplotypes 2 and 1. A tabulation of 20 known mutations at the PAH locus reveals three instances of putative recurrent mutation. PMID:1971147

  17. Association between endometriosis and the interleukin 1A (IL1A) locus

    PubMed Central

    Sapkota, Yadav; Low, Siew-Kee; Attia, John; Gordon, Scott D.; Henders, Anjali K.; Holliday, Elizabeth G.; MacGregor, Stuart; Martin, Nicholas G.; McEvoy, Mark; Morris, Andrew P.; Takahashi, Atsushi; Scott, Rodney J.; Kubo, Michiaki; Zondervan, Krina T.; Montgomery, Grant W.; Nyholt, Dale R.

    2015-01-01

    endometriosis at a nominal P < 0.05 in our independent Japanese sample. Fixed-effect meta-analysis of the eight SNPs for moderate-to-severe endometriosis produced a genome-wide significant association for rs6542095 (odds ratio = 1.21; 95% confidence interval = 1.13–1.29; P = 3.43 × 10−8). LIMITATIONS, REASONS FOR CAUTION The meta-analysis for moderate-to-severe endometriosis included results of moderate-to-severe endometriosis cases from our European data sets and all endometriosis cases from the Japanese data sets, as disease stage information was not available for endometriosis cases in the Japanese data sets. WIDER IMPLICATIONS OF THE FINDINGS SNP rs6542095 is located ∼2.3 kb downstream of the IL1A gene and ∼6.9 kb upstream of cytoskeleton-associated protein 2-like (CKAP2L) gene. The IL1A gene encodes the IL1a protein, a member of the interleukin 1 cytokine family which is involved in various immune responses and inflammatory processes. These results provide important replication in an independent Japanese sample and, for the first time, association of the IL1A locus in endometriosis patients of European ancestry. SNPs within the IL1A locus may regulate other genes, but if IL1A is the target, our results provide supporting evidence for a link between inflammatory responses and the pathogenesis of endometriosis. STUDY FUNDING/COMPETING INTEREST(S) The research was funded by grants from the Australian National Health and Medical Research Council and Wellcome Trust. None of the authors has competing interests for the study. PMID:25336714

  18. Hitch-hiking to a locus under balancing selection: high sequence diversity and low population subdivision at the S-locus genomic region in Arabidopsis halleri.

    PubMed

    Ruggiero, Maria Valeria; Jacquemin, Bertrand; Castric, Vincent; Vekemans, Xavier

    2008-02-01

    Hitch-hiking to a site under balancing selection is expected to produce a local increase in nucleotide polymorphism and a decrease in population differentiation compared with the background genomic level, but empirical evidence supporting these predictions is scarce. We surveyed molecular diversity at four genes flanking the region controlling self-incompatibility (the S-locus) in samples from six populations of the herbaceous plant Arabidopsis halleri, and compared their polymorphism with sequences from five control genes unlinked to the S-locus. As a preliminary verification, the S-locus flanking genes were shown to co-segregate with SRK, the gene involved in the self-incompatibility reaction at the pistil level. In agreement with theory, our results demonstrated a significant peak of nucleotide diversity around the S-locus as well as a significant decrease in population genetic structure in the S-locus region compared with both control genes and a set of seven unlinked microsatellite markers. This is consistent with the theoretical expectation that balancing selection is increasing the effective migration rate in subdivided populations. Although only four S-locus flanking genes were investigated, our results suggest that these two signatures of the hitch-hiking effect are localized in a very narrow genomic region.

  19. Relationship of Personality and Locus of Control With Employment Outcomes among Participants with Spinal Cord Injury

    ERIC Educational Resources Information Center

    Krause, James S.; Broderick, Lynne

    2006-01-01

    We investigated relationships among personality, locus of control, and current post-injury employment status for 1,391 participants with spinal cord injury. Participants with higher internality locus-of-control scores and activity scores (personality) reported more favorable employment outcomes. Higher scores on chance and powerful others (locus…

  20. A Study to Investigate the Relationship between Locus of Control and Academic Achievement of Students

    ERIC Educational Resources Information Center

    Gujjar, Aijaz Ahmed; Aijaz, Rukhma

    2014-01-01

    Motivation is regarded as the alpha and omega of learning. It is the heart of teaching learning process. Motivation is defined as an internal state that arouses, directs, and maintains the behavior over time. Thus motivation is the pivotal component of learning and locus of control which is one of the important factors it stems from. Locus of…

  1. Social Self-Efficacy, Academic Locus of Control, and Internet Addiction

    ERIC Educational Resources Information Center

    Iskender, Murat; Akin, Ahmet

    2010-01-01

    The purpose of this research is to examine the relationship of internet addiction, social self-efficacy, and academic locus of control. Participants were 311 university students who completed a questionnaire package that included the Online Cognition Scale, the Academic Locus of Control Scale, and the Perceived Social Self-efficacy Scale. The…

  2. Birth order and locus of control revisited: sex of siblings as a moderating factor.

    PubMed

    Hughes, Brian M

    2005-10-01

    Rotter's Locus of Control scale was administered to 64 first-born and 157 other undergraduate students, and data on the sex of participants' siblings were also obtained. The sex of participants' siblings was significantly correlated with locus of control among first-borns but not among other participants.

  3. Self Esteem, Locus of Control and Multidimensional Perfectionism as the Predictors of Subjective Well Being

    ERIC Educational Resources Information Center

    Karatas, Zeynep; Tagay, Ozlem

    2012-01-01

    The purpose of this study is to determine whether there is a relationship between self-esteem, locus of control and multidimensional perfectionism, and the extent to which the variables of self-esteem, locus of control and multidimensional perfectionism contribute to the prediction of subjective well-being. The study was carried out with 318 final…

  4. Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity

    PubMed Central

    Sapp, Julie C.; Nishimura, Darryl; Johnston, Jennifer J.; Stone, Edwin M.; Héon, Elise; Sheffield, Val C.; Biesecker, Leslie G.

    2011-01-01

    Purpose Bardet-Biedl syndrome is a pleiotropic multiple anomaly syndrome inherited in an autosomal recessive pattern. It is now known that this disorder has locus heterogeneity, with causative mutations identified in as many as 14 genes. The aim of this study was to derive locus-specific recurrence risk estimates for family members of a proband affected with BBS. Methods Mutation data from 187 probands affected with BBS were used. The authors counted the relative proportion of families with mutations at each of ten loci and estimated locus-specific carrier rates for mutations using Hardy-Weinberg principles and an aggregate population frequency of 1/100,000 for the phenotype. Locus-specific recurrence risks were calculated for relatives of an affected proband. Results Locus-specific carrier frequencies range from 1/250 to 1/2200, and the risks for an offspring of the sibling of an affected individual range from 1/1,500 to 1/13,000. The estimate of this risk derived under a locus homogeneity model is 1/960. Conclusion Variation of recurrence risks of this magnitude may have implications for genetic counseling of families with affected individuals, in particular about prenatal testing and other reproductive options. Similar analyses to determine locus-specific carrier frequencies for other phenotypes with significant locus heterogeneity may yield similarly relevant results. PMID:20949666

  5. Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.

    PubMed

    Sapp, Julie C; Nishimura, Darryl; Johnston, Jennifer J; Stone, Edwin M; Héon, Elise; Sheffield, Val C; Biesecker, Leslie G

    2010-10-01

    Bardet-Biedl syndrome is a pleiotropic multiple anomaly syndrome inherited in an autosomal recessive pattern. It is now known that this disorder has locus heterogeneity, with causative mutations identified in as many as 14 genes. The aim of this study was to derive locus-specific recurrence risk estimates for family members of a proband affected with Bardet-Biedl syndrome. Mutation data from 187 probands affected with Bardet-Biedl syndrome were used. The authors counted the relative proportion of families with mutations at each of 10 loci and estimated locus-specific carrier rates for mutations using Hardy-Weinberg principles and an aggregate population frequency of 1/100,000 for the phenotype. Locus-specific recurrence risks were calculated for relatives of an affected proband. Locus-specific carrier frequencies range from 1/250 to 1/2200, and the risks for an offspring of the sibling of an affected individual range from 1/1,500 to 1/13,000. The estimate of this risk derived under a locus homogeneity model is 1/960. Variation of recurrence risks of this magnitude may have implications for genetic counseling of families with affected individuals, in particular about prenatal testing and other reproductive options. Similar analyses to determine locus-specific carrier frequencies for other phenotypes with significant locus heterogeneity may yield similarly relevant results.

  6. The Effect of Locus of Control on Message Acceptance and Recall.

    ERIC Educational Resources Information Center

    Cole, Catherine A.; Singh, Surendra

    Locus of control is a personality trait that influences human behavior in many situations. Internal-external control reactions to a persuasive message and the recall of the message were examined in two studies. In the first study, 35 undergraduate students' locus of control was measured using Duttweiler's Internal Control Measure. On the basis of…

  7. Criterion-Related Validity of the Nowicki-Strickland Locus of Control Scale with Academic Achievement.

    ERIC Educational Resources Information Center

    Nunn, Gary D.; And Others

    1986-01-01

    Investigated the relationships between student locus of control and academic achievement in grades five through eight. The Nowicki-Strickland Locus of Control Scale (NSLOCS) was used to measure motivation, and the Iowa Tests of Basic Skills (ITBS) to assess academic achievement. Results indicated moderate inverse relationships between level of…

  8. Locus of Semantic Interference in Picture Naming: Evidence from Dual-Task Performance

    ERIC Educational Resources Information Center

    Piai, Vitória; Roelofs, Ardi; Schriefers, Herbert

    2014-01-01

    Disagreement exists regarding the functional locus of semantic interference of distractor words in picture naming. This effect is a cornerstone of modern psycholinguistic models of word production, which assume that it arises in lexical response-selection. However, recent evidence from studies of dual-task performance suggests a locus in…

  9. Relationships between Psychological Androgyny, Social Conformity, and Perceived Locus of Control.

    ERIC Educational Resources Information Center

    Brehony, Kathleen A.; Geller, E. Scott

    1981-01-01

    Compared the decisions and attitudes of sex-stereotyped and androgynous individuals in a social conformity paradigm and on two measures of locus of control. Stereotypic females conformed significantly more often than androgynous females and stereotypic males. Androgynous females were more internal in locus of control than stereotypic females.…

  10. Predictors of Parental Locus of Control in Mothers of Pre- and Early Adolescents

    ERIC Educational Resources Information Center

    Freed, Rachel D.; Tompson, Martha C.

    2011-01-01

    Parental locus of control refers to parents' perceived power and efficacy in child-rearing situations. This study explored parental locus of control and its correlates in 160 mothers of children ages 8 to 14 cross-sectionally and 1 year later. Maternal depression, maternal expressed emotion, and child internalizing and externalizing behavior were…

  11. Identification of heat resistant Escherichia coli by qPCR for the locus of heat resistance.

    PubMed

    Ma, Angela; Chui, Linda

    2017-02-01

    Three qPCR assays targeting the locus of heat resistance to identify heat resistant clinical Escherichia coli isolates are described. Of 613 isolates, 3 (0.5%) possessed the locus. The assays are a rapid, highly sensitive and specific alternative to screening by heat shock and can be used in food safety surveillance.

  12. A locus necessary for the transport and catabolism of erythritol in Sinorhizobium meliloti.

    PubMed

    Geddes, Barney A; Pickering, Brad S; Poysti, Nathan J; Collins, Heather; Yudistira, Harry; Oresnik, Ivan J

    2010-10-01

    In this work we have genetically defined an erythritol utilization locus in Sinorhizobium meliloti. A cosmid containing the locus was isolated by complementation of a transposon mutant and was subsequently mutagenized using Tn5 : : B20. The locus was found to consist of five transcriptional units, each of which was necessary for the utilization of erythritol. Genetic complementation experiments using genes putatively annotated as erythritol catabolic genes clearly showed that, of the 17 genes at this locus, six genes are not necessary for the utilization of erythritol as a sole carbon source. The remaining genes encode EryA, EryB, EryC and TpiB as well as an uncharacterized ABC-type transporter. Transport experiments using labelled erythritol showed that components of the ABC transporter are necessary for the uptake of erythritol. The locus also contains two regulators: EryD, a SorC class regulator, and SMc01615, a DeoR class regulator. Quantitative RT-PCR experiments showed that each of these regulators negatively regulates its own transcription. In addition, induction of the erythritol locus was dependent upon EryD and a product of erythritol catabolism. Further characterization of polar mutations revealed that in addition to erythritol, the locus contains determinants for adonitol and l-arabitol utilization. The context of the mutations suggests that the locus is important for both the transport and catabolism of adonitol and l-arabitol.

  13. Health Locus of Control and Preventive Behaviour among Students of Music

    ERIC Educational Resources Information Center

    Spahn, Claudia; Burger, Thorsten; Hildebrandt, Horst; Seidenglanz, Karin

    2005-01-01

    The present study investigated health locus of control, preventive behaviour and previous playing-related health problems of music students; 326 students of music (58% female, mean age 22 years) filled in the Locus of Control Inventory for Illness and Health (Lohaus and Schmitt, 1989) and the Epidemiological Questionnaire for Musicians (Spahn,…

  14. An Examination of Locus of Control, Epistemological Beliefs and Metacognitive Awareness in Preservice Early Childhood Teachers

    ERIC Educational Resources Information Center

    Bedel, Emine Ferda

    2012-01-01

    This study aims to explore the locus of control, epistemological beliefs and metacognitive awareness levels of preservice early childhood education teachers and to determine the interrelations among these variables. 206 teacher candidates have been asked to fill out Rotter's Internal-External Locus of Control Scale, Central Epistemological Beliefs…

  15. Student Locus of Control and Response to Expectations About Self and Teacher.

    ERIC Educational Resources Information Center

    Feldman, Robert S.; And Others

    1983-01-01

    Undergraduate subjects with either an internal or external locus of control were used to investigate the relationship between locus of control and responsiveness to expectations regarding their own and their teacher's competence. As predicted, internal subjects were more receptive to the expectation regarding self than external subjects.…

  16. Perception of Environmental Risk Related to Gender, Community Socioeconomic Setting, Age, and Locus of Control.

    ERIC Educational Resources Information Center

    Riechard, Donald E.; Peterson, Sandra J.

    1998-01-01

    Examines how students' perception of risk for 20 environmental hazards are related to gender, community socioeconomic setting, age, and locus of control. The sample was drawn from a large metropolitan area in the southeast. Females had significantly higher risk-perception scores than males. Participants with an internal locus of control posted the…

  17. Evolution and homoplasy at the bem6 microsatellite locus in three Bemisia tabaci cryptic species

    USDA-ARS?s Scientific Manuscript database

    The evolution of individual microsatellite loci is often complex and homoplasy is common but often goes undetected. Sequencing alleles at a microsatellite locus can provide a more complete picture of the common evolutionary mechanisms occurring at that locus and can reveal cases of homoplasy. Within...

  18. Predictors of Parental Locus of Control in Mothers of Pre- and Early Adolescents

    ERIC Educational Resources Information Center

    Freed, Rachel D.; Tompson, Martha C.

    2011-01-01

    Parental locus of control refers to parents' perceived power and efficacy in child-rearing situations. This study explored parental locus of control and its correlates in 160 mothers of children ages 8 to 14 cross-sectionally and 1 year later. Maternal depression, maternal expressed emotion, and child internalizing and externalizing behavior were…

  19. Internal-External Locus of Control in Middle and Later Life: The Search for Construct Validation.

    ERIC Educational Resources Information Center

    Bielby, Denise D.; Siegler, Ilene C.

    This study validates the developmental nature of internal-external locus of control in middle and old age. Longitudinal stability of locus of control in the face of particular changes in social milieu common during the transition from middle to late life was contrasted with that of verbal intelligence, a known stable characteristic, and that of…

  20. The Effect of Supervisor's Locus of Control and Employee Behavior on Supervisor Attributions.

    ERIC Educational Resources Information Center

    Hillman, Maxine

    Two theoretical areas that lend themselves to study as they relate to supervisor-worker relations are locus of control and attribution theory. This study examined two general problems: (1) how a supervisor behaves toward an employee in relation to how that employee performs in the work place; and (2) how a supervisor's locus of control influences…

  1. Mapping of panda plumage color locus on the microsatellite linkage map of the Japanese quail

    PubMed Central

    Miwa, Mitsuru; Inoue-Murayama, Miho; Kobayashi, Naoki; Kayang, Boniface Baboreka; Mizutani, Makoto; Takahashi, Hideaki; Ito, Shin'ichi

    2006-01-01

    Background Panda (s) is an autosomal recessive mutation, which displays overall white plumage color with spots of wild-type plumage in the Japanese quail (Coturnix japonica). In a previous study, the s locus was included in the same linkage group as serum albumin (Alb) and vitamin-D binding protein (GC) which are mapped on chicken (Gallus gallus) chromosome 4 (GGA4). In this study, we mapped the s locus on the microsatellite linkage map of the Japanese quail by linkage analysis. Results Segregation data on the s locus were obtained from three-generation families (n = 106). Two microsatellite markers derived from the Japanese quail chromosome 4 (CJA04) and three microsatellite markers derived from GGA4 were genotyped in the three-generation families. We mapped the s locus between GUJ0026 and ABR0544 on CJA04. By comparative mapping with chicken, this locus was mapped between 10.0 Mb and 14.5 Mb region on GGA4. In this region, the endothelin receptor B subtype 2 gene (EDNRB2), an avian-specific paralog of the mammalian endothelin receptor B gene (EDNRB), is located. Because EDNRB is responsible for aganglionic megacolon and spot coat color in mouse, rat and equine, EDNRB2 is suggested to be a candidate gene for the s locus. Conclusion The s locus and the five microsatellite markers were mapped on CJA04 of the Japanese quail. EDNRB2 was suggested to be a candidate gene for the s locus. PMID:16405738

  2. Relationship of Personality and Locus of Control With Employment Outcomes among Participants with Spinal Cord Injury

    ERIC Educational Resources Information Center

    Krause, James S.; Broderick, Lynne

    2006-01-01

    We investigated relationships among personality, locus of control, and current post-injury employment status for 1,391 participants with spinal cord injury. Participants with higher internality locus-of-control scores and activity scores (personality) reported more favorable employment outcomes. Higher scores on chance and powerful others (locus…

  3. Health Locus of Control and Preventive Behaviour among Students of Music

    ERIC Educational Resources Information Center

    Spahn, Claudia; Burger, Thorsten; Hildebrandt, Horst; Seidenglanz, Karin

    2005-01-01

    The present study investigated health locus of control, preventive behaviour and previous playing-related health problems of music students; 326 students of music (58% female, mean age 22 years) filled in the Locus of Control Inventory for Illness and Health (Lohaus and Schmitt, 1989) and the Epidemiological Questionnaire for Musicians (Spahn,…

  4. Locus of Control as It Relates to the Teaching Style of Elementary Teachers

    ERIC Educational Resources Information Center

    Ture, Abidemi

    2013-01-01

    This research explored the relationship between elementary teachers' locus of control and teaching style. This research observed elementary teachers in their classrooms coupled with data gathered from information sheets, surveys, and interviews to determine if a relationship exists between the locus of control of the elementary teachers and…

  5. Grades--Who's to Blame? Student Evaluation of Teaching and Locus of Control

    ERIC Educational Resources Information Center

    Grimes, Paul W.; Millea, Meghan J.; Woodruff, Thomas W.

    2004-01-01

    The authors examine the relationship between students' locus of control and their evaluation of teaching in a traditional principles of economics course. Locus of control is a psychological construct that identifies an individual's beliefs about the degree of personal control that can be exercised over his or her environment. Students with an…

  6. [Relationship between work locus of control and occupational stress in oil workers].

    PubMed

    Meng, Xian-Hai; He, Ya-Hui; Yu, Shan-Fa; Qi, Xiu-Ying

    2008-12-01

    To investigate general states of the work locus of control and explore the relationship between work locus of control and occupational stress in oil workers. 582 oil workers were investigated by using the General Questionnaire and Occupational Stress Measure Inventory. There were significant differences in WCLS score between two age groups (= 30 years old group and < 30 years old group) (t = 2.093, P = 0.037). Values of interpersonal relationship, person responsibility, promotion, participation, autonomy, task consistency, challenge, job satisfaction, mental health, self-esteem and coping strategies were higher in the group of internal locus of control; values of role ambiguity, working prospect, depression and social support were higher in the group of external locus of control (P < 0.05). Work locus of control had positive relation with role ambiguity, working prospect, depression, and social support, and negative with interpersonal relationship, promotion, participation, task consistency, challenge, job satisfaction, mental health, self-esteem and coping strategies. In the regression analysis, work locus of control was the major predictive factor of work satisfaction. Work locus of control is associated with many occupational stress factors. The group of extrinsic work locus of control experience more stress in oil workers.

  7. The Relationship between the Perception of Own Locus of Control and Aggression of Adolescent Boys

    ERIC Educational Resources Information Center

    Breet, Lettie; Myburgh, Chris; Poggenpoel, Marie

    2010-01-01

    Aggression is increasingly seen in most parts of South African society. Aggressive behaviour of boys in secondary school often results from frustrations caused by perceived high expectations of others regarding the role, locus of control, and personality of boys. Locus of control plays an important role in a person's perception concerning a…

  8. Goal Orientations, Locus of Control and Academic Achievement in Prospective Teachers: An Individual Differences Perspective

    ERIC Educational Resources Information Center

    Bulus, Mustafa

    2011-01-01

    The aim of this study is to investigate the role of the prospective teachers' locus of control in goal orientations and of both orientations in academic achievement. The participants were 270 undergraduate students studying in different majors at the Faculty of Education in Pamukkale University. Goal Orientations and Locus of Control Scales were…

  9. Re-Examination of the Relationship between Locus of Control and Field Independence/Dependence.

    ERIC Educational Resources Information Center

    Lau, Sing; And Others

    1981-01-01

    A total of 187 American and 90 Filipino college students were given Levenson's locus of control scales and the Thurstone's Gottschaldt hidden figures test. Consistent with past studies, no linear relationship between locus of control and field-independence was found. A similar curvilinear relationship was observed with both groups. (Author/SJL)

  10. Teacher Locus of Control, Teacher Behavior, and Student Behavior as Determinants of Student Achievement.

    ERIC Educational Resources Information Center

    Rose, Janet S.; Medway, Frederic J.

    1981-01-01

    An investigation of the relationships among teacher locus of control, teacher behavior, student behavior, and student academic achievement revealed that teachers with internal locus of control tended to have higher achieving classes, although the relationships among the variables are not clear-cut. (CJ)

  11. Differences in Self-Concept and Locus of Control among Women Who Seek Abortions.

    ERIC Educational Resources Information Center

    Thompson, Linda V.; Robinson, Sharon E.

    1986-01-01

    Three groups of women who varied in abortion status were formed to investigate the self-concept and locus of control of a total of 90 women. No significant differences in self-concept were found among the three groups, nor was there a relationship between locus of control and repeated abortion. (Author/ABB)

  12. Criterion-Related Validity of the Nowicki-Strickland Locus of Control Scale with Academic Achievement.

    ERIC Educational Resources Information Center

    Nunn, Gary D.; And Others

    1986-01-01

    Investigated the relationships between student locus of control and academic achievement in grades five through eight. The Nowicki-Strickland Locus of Control Scale (NSLOCS) was used to measure motivation, and the Iowa Tests of Basic Skills (ITBS) to assess academic achievement. Results indicated moderate inverse relationships between level of…

  13. Social Self-Efficacy, Academic Locus of Control, and Internet Addiction

    ERIC Educational Resources Information Center

    Iskender, Murat; Akin, Ahmet

    2010-01-01

    The purpose of this research is to examine the relationship of internet addiction, social self-efficacy, and academic locus of control. Participants were 311 university students who completed a questionnaire package that included the Online Cognition Scale, the Academic Locus of Control Scale, and the Perceived Social Self-efficacy Scale. The…

  14. Assessing Locus of Control of Reinforcement in Elderly People: Evaluation of the Desired Control Measure.

    ERIC Educational Resources Information Center

    Kelly, Lynn E.; And Others

    1994-01-01

    Reid and Zeigler's Desired Control Measure (DCM); Levenson's Internal, Powerful Other, and Chance Locus of Control scales, Life Satisfaction Index; and Affect Balance Scale were completed by 363 older adults. The DCM apparently does not primarily tap locus of control and would be more appropriately used as a measure of individuals' perceptions of…

  15. Recommendations for Locus-Specific Databases and Their Curation

    PubMed Central

    Cotton, R.G.H.; Auerbach, A.D.; Beckmann, J.S.; Blumenfeld, O.O.; Brookes, A.J.; Brown, A.F.; Carrera, P.; Cox, D.W.; Gottlieb, B.; Greenblatt, M.S.; Hilbert, P.; Lehvaslaiho, H.; Liang, P.; Marsh, S.; Nebert, D.W.; Povey, S.; Rossetti, S.; Scriver, C.R.; Summar, M.; Tolan, D.R.; Verma, I.C.; Vihinen, M.; den Dunnen, J.T.

    2009-01-01

    Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome. PMID:18157828

  16. Recommendations for locus-specific databases and their curation.

    PubMed

    Cotton, R G H; Auerbach, A D; Beckmann, J S; Blumenfeld, O O; Brookes, A J; Brown, A F; Carrera, P; Cox, D W; Gottlieb, B; Greenblatt, M S; Hilbert, P; Lehvaslaiho, H; Liang, P; Marsh, S; Nebert, D W; Povey, S; Rossetti, S; Scriver, C R; Summar, M; Tolan, D R; Verma, I C; Vihinen, M; den Dunnen, J T

    2008-01-01

    Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome. (c) 2007 Wiley-Liss, Inc.

  17. Search for a schizophrenia susceptibility locus of human chromosome 22

    SciTech Connect

    Coon, H.; Hoff, M.; Holik, J.

    1994-06-15

    We used 10 highly informative DNA polymorphic markers and genetic linkage analysis to examine whether a gene locus predisposing to schizophrenia is located on chromosome 22, in 105 families with schizophrenia and schizoaffective disorder. The LOD score method, including analysis for heterogeneity, provided no conclusive evidence of linkage under a dominant, recessive, or penetrance free model of inheritance. Affected sib-pair analysis was inconclusive. Affected Pedigree Member (APM) analysis gave only suggestive evidence for linkage. Multipoint APM analysis, using 4 adjacent loci including D22S281 and IL2RB, a region of interest from the APM analysis, gave non-significant results for the three different weighting functions. 18 refs., 1 fig., 7 tabs.

  18. Multipoint mapping of the central core disease locus

    SciTech Connect

    Schwemmle, S.; Wolff, K.; Grimm, T.; Mueller, C.R. ); Palmucci, L.M. ); Lehmann-Horn, F. ); Huebner, Ch. ); Hauser, E. ); Iles, D.E. ); MacLennan, D.H. )

    1993-07-01

    A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at [theta] = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at [theta] = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint linkage data place the CCO locus at 19q13.1, flanked proximally by D19S191/D19S28 and distally by D19S47. This map location includes the RYR1 gene. The results of the linkage study present no evidence for genetic heterogeneity of CCO. 19 refs., 2 figs., 1 tab.

  19. Dynamic Quantitative Trait Locus Analysis of Plant Phenomic Data.

    PubMed

    Li, Zitong; Sillanpää, Mikko J

    2015-12-01

    Advanced platforms have recently become available for automatic and systematic quantification of plant growth and development. These new techniques can efficiently produce multiple measurements of phenotypes over time, and introduce time as an extra dimension to quantitative trait locus (QTL) studies. Functional mapping utilizes a class of statistical models for identifying QTLs associated with the growth characteristics of interest. A major benefit of functional mapping is that it integrates information over multiple timepoints, and therefore could increase the statistical power for QTL detection. We review the current development of computationally efficient functional mapping methods which provide invaluable tools for analyzing large-scale timecourse data that are readily available in our post-genome era. Copyright © 2015 Elsevier Ltd. All rights reserved.

  20. CSGRqtl: A Comparative Quantitative Trait Locus Database for Saccharinae Grasses.

    PubMed

    Zhang, Dong; Paterson, Andrew H

    2017-01-01

    Conventional biparental quantitative trait locus (QTL) mapping has led to some successes in the identification of causal genes in many organisms. QTL likelihood intervals not only provide "prior information" for finer-resolution approaches such as GWAS but also provide better statistical power than GWAS to detect variants with low/rare frequency in a natural population. Here, we describe a new element of an ongoing effort to provide online resources to facilitate study and improvement of the important Saccharinae clade. The primary goal of this new resource is the anchoring of published QTLs for this clade to the Sorghum genome. Genetic map alignments translate a wealth of genomic information from sorghum to Saccharum spp., Miscanthus spp., and other taxa. In addition, genome alignments facilitate comparison of the Saccharinae QTL sets to those of other taxa that enjoy comparable resources, exemplified herein by rice.

  1. Haplotype mapping of the bronchiolitis susceptibility locus near IL8.

    PubMed

    Hull, Jeremy; Rowlands, Kate; Lockhart, Elizabeth; Sharland, Mike; Moore, Catrin; Hanchard, Neil; Kwiatkowski, Dominic P

    2004-02-01

    Susceptibility to viral bronchiolitis, the commonest cause of infant admissions to hospital in the industrialised world, is associated with polymorphism at the IL8 locus. Here we map the genomic boundaries of the disease association by case-control analysis and TDT in 580 affected UK infants. Markers for association mapping were chosen after determining patterns of linkage disequilibrium across the surrounding region of chromosome 4q, a 550-kb segment containing nine genes, extending from AFP to PPBP. The region has three major clusters of high linkage disequilibrium and is notable for its low haplotypic diversity. We exclude adjacent chemokine genes as the cause of the association, and identify a disease-associated haplotype that spans a 250-kb region from AFM to IL8. In between these two genes there is only one structural feature of interest, a novel gene RASSF6, which is predicted to encode a Ras effector protein.

  2. Chromosomal locus that affects pathogenicity of Rhodococcus fascians.

    PubMed

    Vereecke, Danny; Cornelis, Karen; Temmerman, Wim; Jaziri, Mondher; Van Montagu, Marc; Holsters, Marcelle; Goethals, Koen

    2002-02-01

    The gram-positive plant pathogen Rhodococcus fascians provokes leafy gall formation on a wide range of plants through secretion of signal molecules that interfere with the hormone balance of the host. Crucial virulence genes are located on a linear plasmid, and their expression is tightly controlled. A mutant with a mutation in a chromosomal locus that affected virulence was isolated. The mutation was located in gene vicA, which encodes a malate synthase and is functional in the glyoxylate shunt of the Krebs cycle. VicA is required for efficient in planta growth in symptomatic, but not in normal, plant tissue, indicating that the metabolic requirement of the bacteria or the nutritional environment in plants or both change during the interaction. We propose that induced hyperplasia on plants represents specific niches for the causative organisms as a result of physiological alterations in the symptomatic tissue. Hence, such interaction could be referred to as metabolic habitat modification.

  3. Heterologous transposon tagging of the DRL1 locus in Arabidopsis.

    PubMed Central

    Bancroft, I; Jones, J D; Dean, C

    1993-01-01

    The development of heterologous transposon tagging systems has been an important objective for many laboratories. Here, we demonstrate the use of a Dissociation (Ds) derivative of the maize transposable element Activator (Ac) to tag the DRL1 locus of Arabidopsis. The drl1 mutant shows highly abnormal development with stunted roots, few root hairs, lanceolate leaves, and a highly enlarged, disorganized shoot apex that does not produce an inflorescence. The mutation was shown to be tightly linked to a transposed Ds, and somatic instability was observed in the presence of the transposase source. Some plants showing somatic reversion flowered and produced large numbers of wild-type progeny. These revertant progeny always inherited a DRL1 allele from which Ds had excised. Analysis of the changes in DNA sequence induced by the insertion and excision of the Ds element showed that they were typical of those induced by Ac and Ds in maize. PMID:8392411

  4. Evolution of an expanded sex-determining locus in Volvox.

    PubMed

    Ferris, Patrick; Olson, Bradley J S C; De Hoff, Peter L; Douglass, Stephen; Casero, David; Prochnik, Simon; Geng, Sa; Rai, Rhitu; Grimwood, Jane; Schmutz, Jeremy; Nishii, Ichiro; Hamaji, Takashi; Nozaki, Hisayoshi; Pellegrini, Matteo; Umen, James G

    2010-04-16

    Although dimorphic sexes have evolved repeatedly in multicellular eukaryotes, their origins are unknown. The mating locus (MT) of the sexually dimorphic multicellular green alga Volvox carteri specifies the production of eggs and sperm and has undergone a remarkable expansion and divergence relative to MT from Chlamydomonas reinhardtii, which is a closely related unicellular species that has equal-sized gametes. Transcriptome analysis revealed a rewired gametic expression program for Volvox MT genes relative to Chlamydomonas and identified multiple gender-specific and sex-regulated transcripts. The retinoblastoma tumor suppressor homolog MAT3 is a Volvox MT gene that displays sexually regulated alternative splicing and evidence of gender-specific selection, both of which are indicative of cooption into the sexual cycle. Thus, sex-determining loci affect the evolution of both sex-related and non-sex-related genes.

  5. Evolution of an Expanded Sex Determining Locus in Volvox

    PubMed Central

    Ferris, Patrick; Olson, Bradley J.S.C.; De Hoff, Peter L.; Douglass, Stephen; Diaz-Cano, David Casero; Prochnik, Simon; Geng, Sa; Rai, Rhitu; Grimwood, Jane; Schmutz, Jeremy; Nishii, Ichiro; Hamaji, Takashi; Nozaki, Hisayoshi; Pellegrini, Matteo; Umen, James G.

    2010-01-01

    Although dimorphic sexes have evolved repeatedly in multicellular eukaryotes, their origins are unknown. The mating locus (MT) of the sexually dimorphic multicellular green alga, Volvox carteri, specifies the production of eggs and sperm and has undergone a remarkable expansion and divergence relative to MT from Chlamydomonas reinhardtii, a closely related unicellular species that has equal-sized gametes. Transcriptome analysis revealed a rewired gametic expression program for Volvox MT genes relative to Chlamydomonas, and identified multiple gender-specific and sex-regulated transcripts. The retinoblastoma tumor suppressor homolog MAT3 is a Volvox MT gene that displays sexually regulated alternative splicing and evidence of gender-specific selection, both indicative of cooption into the sexual cycle. Thus, sex-determining loci impact the evolution of both sex-related and non-sex-related genes. PMID:20395508

  6. Quantitative trait locus for reading disability on chromosome 6

    SciTech Connect

    Cardon, L.R. |; Smith, S.D.; Kimberling, W.J.; Fulker, D.W.; DeFries, J.C.; Pennington, B.F.

    1994-10-14

    Interval mapping of data from two independent samples of sib pairs, at least one member of whom was reading disabled, revealed evidence for a quantitative trait locus (QTL) on chromosome 6. Results obtained from analyses of reading performance from 114 sib pairs genotyped for DNA markers localized the QTL to 6p21.3. Analyses of corresponding data from an independent sample of 50 dizygotic twin pairs provided evidence for linkage to the same region. In combination, the replicate samples yielded a x{sup 2} value of 16.73 (P = 0.0002). Examination of twin and kindred siblings with more extreme deficits in reading performance yielded even stronger evidence for a QTL (x{sup 2} = 27.35, P < 0.00001). The position of the QTL was narrowly defined with a 100:1 confidence interval to a 2-centimorgan region within the human leukocyte antigen complex. 23 refs., 4 figs.

  7. [Cajal bodies and histone locus bodies: molecular structure and function].

    PubMed

    Khodiuchenko, T A; Krasikova, A V

    2014-01-01

    The review provides modern classification of evolutionarily conserved coilin-containing nuclear bodies of somatic and germ cells that is based on the characteristic features of their molecular composition and the nature of their functions. The main differences between Cajal bodies and histone locus bodies, which are involved in the biogenesis of small nuclear spliceosomal and nucleolar RNAs and in the 3'-end processing of histone precursor messenger RNA, respectively, are considered. It is shown that a significant contribution to the investigation of the diversity of coilin-containing bodies was made by the studies on the architecture of the RNA processing machinery in oocyte nuclei in a number of model organisms. The characteristics features of the molecular composition of coilin-containing bodies in the nuclei of growing oocytes (the so-called germinal vesicles) of vertebrates, including amphibians and birds, are described.

  8. Cajal bodies and histone locus bodies in Drosophila and Xenopus.

    PubMed

    Nizami, Z F; Deryusheva, S; Gall, J G

    2010-01-01

    The organization of the cell nucleus into specialized compartments is important for nuclear function. We address the significance of compartmentalization by studying the Cajal body, an evolutionarily conserved nuclear organelle proposed to be involved in such diverse functions as assembly of the spliceosome, assembly of the transcription machinery, and modification of spliceosomal small nuclear RNAs. The Cajal body is typically identified by the presence of coilin, a protein of poorly defined function. Here, we demonstrate that coilin is not a unique Cajal body marker but also occurs in a related yet distinct nuclear organelle known as the histone locus body in both Drosophila and Xenopus. We stress the importance of multiple markers not only for identification of nuclear bodies but also for assessing their functional significance.

  9. Natural history of the ERVWE1 endogenous retroviral locus

    PubMed Central

    Bonnaud, Bertrand; Beliaeff, Jean; Bouton, Olivier; Oriol, Guy; Duret, Laurent; Mallet, François

    2005-01-01

    Background The human HERV-W multicopy family includes a unique proviral locus, termed ERVWE1, whose full-length envelope ORF was preserved through evolution by the action of a selective pressure. The encoded Env protein (Syncytin) is involved in hominoid placental physiology. Results In order to infer the natural history of this domestication process, a comparative genomic analysis of the human 7q21.2 syntenic regions in eutherians was performed. In primates, this region was progressively colonized by LTR-elements, leading to two different evolutionary pathways in Cercopithecidae and Hominidae, a genetic drift versus a domestication, respectively. Conclusion The preservation in Hominoids of a genomic structure consisting in the juxtaposition of a retrotransposon-derived MaLR LTR and the ERVWE1 provirus suggests a functional link between both elements. PMID:16176588

  10. Find a Dentist

    MedlinePlus

    ... information you need from the Academy of General Dentistry Sunday, April 9, 2017 About | Contact Find an ... more. Disclaimer of Liabilities The Academy of General Dentistry's (AGD) Web site provides a listing of members ...

  11. Find a Doctor

    MedlinePlus

    ... Doctor Finding a doctor with special training in movement disorders can make a big difference in your ... Goldstein Goldstone Gollomp Goodman Gorman Gottschalk Graff Greeley Green Gregory Griffith Grill Grillone Grist Grossman Groves Gudesblatt ...

  12. Find a Rheumatologist

    MedlinePlus

    ... Opportunities Awards Mentoring Find a Rheumatologist Cart Join Login Keep me signed in Passwords are Case Sensitive. ... as follows: Smith Forgot Username/Password? Toggle navigation Login I Am A Rheumatologist Education Practice & Quality Administrative ...

  13. Finding Treatment Centers

    MedlinePlus

    ... After Treatment Caregivers and Family Children and Cancer End of Life Care Find Support Programs and Services in Your Area Back To Top Imagine a world free from cancer. Help make it a reality. ...

  14. Finding the Correct Location.

    ERIC Educational Resources Information Center

    Seiter, David M.

    1988-01-01

    Provides educational resources from ERIC (Educational Resources Information Center) to help teachers find the material to teach the five themes of geography. An annotated bibliography of seven ERIC documents on geographic location is provided. (LS)

  15. Find a Cancer Doctor

    MedlinePlus

    ... Status message Locating you... The Find an Oncologist Database is made available by ASCO as an informational resource for patients and caregivers. The database includes the names of physicians and other health ...

  16. Somatic cell genotoxicity at the glycophorin A locus in humans

    SciTech Connect

    Jensen, R.H.; Grant, S.G.; Langlois, R.G.; Bigbee, W.L.

    1990-12-28

    We have developed an assay for detecting variant erythrocytes that occur as a result of in vivo allele loss at the glycophorin A (GPA) locus on chromosome 4 in humans. This gene codes for an erythroid- specific cell surface glycoprotein, and with our assay we are able to detect rare variant erythrocytes that have lost expression of one of the two GPA alleles. Two distinctly different variant cell types are detected with this assay. One variant cell type (called N{O}) is hemizygous. Our assay also detects homozygous variant erythrocytes that have lost expression of the GPA(M) allele and express the GPA(N) allele at twice the heterozygous level. The results of this assay are an enumeration of the frequency of N{O} and NN variant cell types for each individual analyzed. These variant cell frequencies provide a measure of the amount of somatic cell genotoxicity that has occurred at the GPA locus. Such genotoxicity could be the result of (1) reactions of toxic chemicals to which the individual has been exposed, or (2) high energy radiation effects on erythroid precursor cells, or (3) errors in DNA replication or repair in these cells of the bone marrow. Thus, the GPA-based variant cell frequency can serve as a biodosimeter that indicates the amount of genotoxic exposure each individual has received. Because two very different kinds of variant cells are enumerated, different kinds of genotoxicity should be distinguishable. Results of the GPA somatic genotoxicity assay may also provide valuable information for cancer-risk estimation on each individual. 16 refs.

  17. Role of CTCF Protein in Regulating FMR1 Locus Transcription

    PubMed Central

    Lanni, Stella; Goracci, Martina; Borrelli, Loredana; Mancano, Giorgia; Chiurazzi, Pietro; Moscato, Umberto; Ferrè, Fabrizio; Helmer-Citterich, Manuela; Tabolacci, Elisabetta; Neri, Giovanni

    2013-01-01

    Fragile X syndrome (FXS), the leading cause of inherited intellectual disability, is caused by epigenetic silencing of the FMR1 gene, through expansion and methylation of a CGG triplet repeat (methylated full mutation). An antisense transcript (FMR1-AS1), starting from both promoter and intron 2 of the FMR1 gene, was demonstrated in transcriptionally active alleles, but not in silent FXS alleles. Moreover, a DNA methylation boundary, which is lost in FXS, was recently identified upstream of the FMR1 gene. Several nuclear proteins bind to this region, like the insulator protein CTCF. Here we demonstrate for the first time that rare unmethylated full mutation (UFM) alleles present the same boundary described in wild type (WT) alleles and that CTCF binds to this region, as well as to the FMR1 gene promoter, exon 1 and intron 2 binding sites. Contrariwise, DNA methylation prevents CTCF binding to FXS alleles. Drug-induced CpGs demethylation does not restore this binding. CTCF knock-down experiments clearly established that CTCF does not act as insulator at the active FMR1 locus, despite the presence of a CGG expansion. CTCF depletion induces heterochromatinic histone configuration of the FMR1 locus and results in reduction of FMR1 transcription, which however is not accompanied by spreading of DNA methylation towards the FMR1 promoter. CTCF depletion is also associated with FMR1-AS1 mRNA reduction. Antisense RNA, like sense transcript, is upregulated in UFM and absent in FXS cells and its splicing is correlated to that of the FMR1-mRNA. We conclude that CTCF has a complex role in regulating FMR1 expression, probably through the organization of chromatin loops between sense/antisense transcriptional regulatory regions, as suggested by bioinformatics analysis. PMID:23874213

  18. Homozygosity mapping of the Achromatopsia locus in the Pingelapese.

    PubMed

    Winick, J D; Blundell, M L; Galke, B L; Salam, A A; Leal, S M; Karayiorgou, M

    1999-06-01

    Achromatopsia, or total color blindness (also referred to as "rod monochromacy"), is a severe retinal disorder characterized clinically by an inability to distinguish colors, impaired visual acuity in daylight, photophobia, and nystagmus. Inherited as an autosomal recessive trait, achromatopsia is rare in the general population (1:20,000-1:50,000). Among the Pingelapese people of the Eastern Caroline Islands, however, the disorder occurs at an extremely high frequency, as recounted in Oliver Sacks's popular book The Island of the Colorblind: 4%-10% of this island population have the disorder and approximately 30% carry the gene. This extraordinary enrichment of the disease allele most likely resulted from a sharp reduction in population in the late 18th century, in the aftermath of a typhoon and subsequent geographic and cultural isolation. To obtain insights into the genetic basis of achromatopsia, as well as into the genetic history of this region of Micronesia, a genomewide search for linkage was performed in three Pingelapese kindreds with achromatopsia. A two-step search was used with a DNA pooling strategy, followed by genotyping of individual family members. Genetic markers that displayed a shift toward homozygosity in the affected DNA pool were used to genotype individual members of the kindreds, and an achromatopsia locus was identified on 8q21-q22. A maximal multipoint LOD score of 9.5 was observed with marker D8S1707. Homozygosity was seen for three adjacent markers (D8S275, D8S1119, and D8S1707), whereas recombination was observed with the flanking markers D8S1757 and D8S270, defining the outer boundaries of the disease-gene locus that spans a distance of <6.5cM.

  19. Quantitative trait locus mapping of soybean maturity gene E5

    PubMed Central

    Dissanayaka, Auchithya; Rodriguez, Tito O.; Di, Shaokang; Yan, Fan; Githiri, Stephen M.; Rodas, Felipe Rojas; Abe, Jun; Takahashi, Ryoji

    2016-01-01

    Time to flowering and maturity in soybean is controlled by loci E1 to E5, and E7 to E9. These loci were assigned to molecular linkage groups (MLGs) except for E5. This study was conducted to map the E5 locus using F2 populations expected to segregate for E5. F2 populations were subjected to quantitative trait locus (QTL) analysis for days to flowering (DF) and maturity (DM). In Harosoy-E5 × Clark-e2 population, QTLs for DF and DM were found at a similar position with E2. In Harosoy × Clark-e2E5 population, QTLs for DF and DM were found in MLG D1a and B1, respectively. In Harosoy-E5Dt2 × Clark-e2 population, a QTL for DF was found in MLG B1. Thus, results from these populations were not fully consistent, and no candidate QTL for E5 was found. In Harosoy × PI 80837 population, from which E5 was originally identified, QTLs corresponding to E1 and E3 were found, but none for E5 existed. Harosoy and PI 80837 had the e2-ns allele whereas Harosoy-E5 had the E2-dl allele. The E2-dl allele of Harosoy-E5 may have been generated by outcrossing and may be responsible for the lateness of Harosoy-E5. We conclude that a unique E5 gene may not exist. PMID:27436951

  20. Fertility restoration locus and cytoplasm types in onion.

    PubMed

    Ferreira, R R; Santos, C A F; Oliveira, V R

    2017-09-21

    The objective of this study was the identification of the cytoplasmic types and the genotyping for the fertility restoration nuclear locus (Ms) in 59 onion accessions, aiming at the selection of 'A' and 'B' lines essential for the obtainment of hybrids. Three markers were used to identify the cytoplasm 5' cob, orfA501, and orf725, and two were used for the Ms locus (AcSKP1 and AcPMS1). The two types of male-sterile cytoplasm ('S' and 'T'), as well as fertile cytoplasm ('N'), and the Ms and ms alleles in both homozygosity and heterozygosity were detected in the 59 genotypes evaluated in the experiment. The frequencies of the 5' cob/orfA501 and orf725 markers, as well as of the markers AcSKP1 and AcPMS1, were close in the onion accessions evaluated in this study. In the Brazilian germplasm, the frequencies of the 'N', 'S', and 'T' cytoplasm were approximately 0.47, 0.28, and 0.25, respectively, whereas the allele frequencies of Ms and ms were 0.52 and 0.48, respectively. The accessions Régia, EHCEB 20146, EHCEB 201427, Alvorada, Serrana, Crioula Mercosul, EHCEB 20142, BRS 367, Rainha, Juporanga, and Alfa SF C-XI have potential for the identification of 'A' and 'B' lines, since they presented mixtures of cytoplasm and different allele frequencies for Ms. All the plants of the accessions EHCEB 20142040/EHCEB 20141040, EHCEB 20142028/EHCEB 20141028, and EHCEB 20112006/EHCEB 20111006 were in the Nmsms and Smsms conditions, and have the potential for 'B' and 'A' lines, respectively, for the CMS-S system. All the plants of the accessions EHCEB 20142027/EHCEB 20141027, EHCEB 20102019/EHCEB 20101019, and Alfa SF 'B'/Alfa SF 'A' were in Nmsms and Tmsms conditions, and have the potential for 'B' and 'A' lines, respectively, for the CMS-T system.