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  1 / 151 MEDLINE  
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[PMID]:28468909
[Au] Autor:Melchinger AE; Schopp P; Müller D; Schrag TA; Bauer E; Unterseer S; Homann L; Schipprack W; Schön CC
[Ad] Endereço:Institute of Plant Breeding, Seed Science and Population Genetics, University of Hohenheim, 70593 Stuttgart, Germany melchinger@uni-hohenheim.de chris.schoen@tum.de.
[Ti] Título:Safeguarding Our Genetic Resources with Libraries of Doubled-Haploid Lines.
[So] Source:Genetics;206(3):1611-1619, 2017 07.
[Is] ISSN:1943-2631
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Thousands of landraces are stored in seed banks as "gold reserves" for future use in plant breeding. In many crops, their utilization is hampered because they represent heterogeneous populations of heterozygous genotypes, which harbor a high genetic load. We show, with high-density genotyping in five landraces of maize, that libraries of doubled-haploid (DH) lines capture the allelic diversity of genetic resources in an unbiased way. By comparing allelic differentiation between heterozygous plants from the original landraces and 266 derived DH lines, we find conclusive evidence that, in the DH production process, sampling of alleles is random across the entire allele frequency spectrum, and purging of landraces from their genetic load does not act on specific genomic regions. Based on overall process efficiency, we show that generating DH lines is feasible for genetic material that has never been selected for inbreeding tolerance. We conclude that libraries of DH lines will make genetic resources accessible to crop improvement by linking molecular inventories of seed banks with meaningful phenotypes.
[Mh] Termos MeSH primário: Haploidia
Melhoramento Vegetal/métodos
Banco de Sementes
Zea mays/genética
[Mh] Termos MeSH secundário: Alelos
Bases de Dados de Ácidos Nucleicos
Carga Genética
Heterozigoto
Desequilíbrio de Ligação
Polimorfismo Genético
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171213
[Lr] Data última revisão:
171213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1534/genetics.115.186205


  2 / 151 MEDLINE  
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[PMID]:27778313
[Au] Autor:Spigler RB; Theodorou K; Chang SM
[Ad] Endereço:Department of Biology, Temple University, 1900 N. 12th Street, Philadelphia, Pennsylvania, 19122.
[Ti] Título:Inbreeding depression and drift load in small populations at demographic disequilibrium.
[So] Source:Evolution;71(1):81-94, 2017 01.
[Is] ISSN:1558-5646
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Inbreeding depression is a major driver of mating system evolution and has critical implications for population viability. Theoretical and empirical attention has been paid to predicting how inbreeding depression varies with population size. Lower inbreeding depression is predicted in small populations at equilibrium, primarily due to higher inbreeding rates facilitating purging and/or fixation of deleterious alleles (drift load), but predictions at demographic and genetic disequilibrium are less clear. In this study, we experimentally evaluate how lifetime inbreeding depression and drift load, estimated by heterosis, vary with census (N ) and effective (estimated as genetic diversity, H ) population size across six populations of the biennial Sabatia angularis as well as present novel models of inbreeding depression and heterosis under varying demographic scenarios at disequilibrium (fragmentation, bottlenecks, disturbances). Our experimental study reveals high average inbreeding depression and heterosis across populations. Across our small sample, heterosis declined with H , as predicted, whereas inbreeding depression did not vary with H and actually decreased with N . Our theoretical results demonstrate that inbreeding depression and heterosis levels can vary widely across populations at disequilibrium despite similar H and highlight that joint demographic and genetic dynamics are key to predicting patterns of genetic load in nonequilibrium systems.
[Mh] Termos MeSH primário: Genética Populacional
Gentianaceae/genética
Vigor Híbrido
Depressão por Endogamia
[Mh] Termos MeSH secundário: Carga Genética
Variação Genética
North Carolina
Densidade Demográfica
South Carolina
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171130
[Lr] Data última revisão:
171130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE
[do] DOI:10.1111/evo.13103


  3 / 151 MEDLINE  
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[PMID]:28938026
[Au] Autor:Jackson E; Zhang CX; Kiani Z; Lisovsky I; Tallon B; Del Corpo A; Gilbert L; Bruneau J; Thomas R; Côté P; Trottier B; LeBlanc R; Rouleau D; Tremblay C; Tsoukas CM; Routy JP; Ni X; Mabanga T; Bernard NF; Montreal Primary Infection Study Group
[Ad] Endereço:Research Institute of the McGill University Health Center (RI-MUHC), Montreal, Quebec, Canada.
[Ti] Título:HIV exposed seronegative (HESN) compared to HIV infected individuals have higher frequencies of telomeric Killer Immunoglobulin-like Receptor (KIR) B motifs; Contribution of KIR B motif encoded genes to NK cell responsiveness.
[So] Source:PLoS One;12(9):e0185160, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Previously, we showed that Killer Immunoglobulin-like Receptor (KIR)3DS1 homozygotes (hmz) are more frequent in HIV exposed seronegative (HESN) than in recently HIV infected (HIV+) individuals. KIR3DS1 encodes an activating Natural Killer (NK) cell receptor (NKR). The link between KIR genotype and HIV outcomes likely arises from the function that NK cells acquire through expression of particular NKRs. An initial screen of 97 HESN and 123 HIV+ subjects for the frequency of KIR region gene carriage observed between-group differences for several telomeric KIR region loci. In a larger set of up to 106 HESN and 439 HIV+ individuals, more HESN than HIV+ subjects were KIR3DS1 homozygotes, lacked a full length KIR2DS4 gene and carried the telomeric group B KIR haplotype motif, TB01. TB01 is characterized by the presence of KIR3DS1, KIR2DL5A, KIR2DS3/5 and KIR2DS1, in linkage disequilibrium with each other. We assessed which of the TB01 encoded KIR gene products contributed to NK cell responsiveness by stimulating NK cells from 8 HIV seronegative KIR3DS1 and TB01 motif homozygotes with 721.221 HLA null cells and evaluating the frequency of KIR3DS1+/-KIR2DL5+/-, KIR3DS1+/-KIR2DS1+/-, KIR3DS1+/-KIR2DS5+/- NK cells secreting IFN-γ and/or expressing CD107a. A higher frequency of NK cells expressing, versus not, KIR3DS1 responded to 721.221 stimulation. KIR2DL5A+, KIR2DS1+ and KIR2DS5+ NK cells did not contribute to 721.221 responses or modulate those by KIR3DS1+ NK cells. Thus, of the TB01 KIR gene products, only KIR3DS1 conferred responsiveness to HLA-null stimulation, demonstrating its ligation can activate ex vivo NK cells.
[Mh] Termos MeSH primário: Infecções por HIV/imunologia
Soronegatividade para HIV
Células Matadoras Naturais/imunologia
Ativação Linfocitária
Receptores KIR3DS1/genética
Receptores KIR3DS1/metabolismo
[Mh] Termos MeSH secundário: Células Cultivadas
Técnicas de Cocultura
Frequência do Gene
Carga Genética
Infecções por HIV/genética
Antígenos HLA/imunologia
Haplótipos
Seres Humanos
Desequilíbrio de Ligação
Estudos Prospectivos
Receptores KIR/genética
Receptores KIR/metabolismo
Receptores KIR2DL5/genética
Receptores KIR2DL5/metabolismo
Receptores KIR3DS1/química
Telômero
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HLA Antigens); 0 (KIR2DS1 protein, human); 0 (KIR2DS5 protein, human); 0 (Receptors, KIR); 0 (Receptors, KIR2DL5); 0 (Receptors, KIR3DS1)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170923
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0185160


  4 / 151 MEDLINE  
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[PMID]:27974502
[Au] Autor:Traglia M; Bseiso D; Gusev A; Adviento B; Park DS; Mefford JA; Zaitlen N; Weiss LA
[Ad] Endereço:Department of Psychiatry and Institute for Human Genetics, University of California, San Francisco, California 94143.
[Ti] Título:Genetic Mechanisms Leading to Sex Differences Across Common Diseases and Anthropometric Traits.
[So] Source:Genetics;205(2):979-992, 2017 Feb.
[Is] ISSN:1943-2631
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Common diseases often show sex differences in prevalence, onset, symptomology, treatment, or prognosis. Although studies have been performed to evaluate sex differences at specific SNP associations, this work aims to comprehensively survey a number of complex heritable diseases and anthropometric traits. Potential genetically encoded sex differences we investigated include differential genetic liability thresholds or distributions, gene-sex interaction at autosomal loci, major contribution of the X-chromosome, or gene-environment interactions reflected in genes responsive to androgens or estrogens. Finally, we tested the overlap between sex-differential association with anthropometric traits and disease risk. We utilized complementary approaches of assessing GWAS association enrichment and SNP-based heritability estimation to explore explicit sex differences, as well as enrichment in sex-implicated functional categories. We do not find consistent increased genetic load in the lower-prevalence sex, or a disproportionate role for the X-chromosome in disease risk, despite sex-heterogeneity on the X for several traits. We find that all anthropometric traits show less than complete correlation between the genetic contribution to males and females, and find a convincing example of autosome-wide genome-sex interaction in multiple sclerosis (P = 1 × 10 ). We also find some evidence for hormone-responsive gene enrichment, and striking evidence of the contribution of sex-differential anthropometric associations to common disease risk, implying that general mechanisms of sexual dimorphism determining secondary sex characteristics have shared effects on disease risk.
[Mh] Termos MeSH primário: Predisposição Genética para Doença
Modelos Genéticos
Caracteres Sexuais
[Mh] Termos MeSH secundário: Tamanho Corporal/genética
Cromossomos Humanos X/genética
Feminino
Carga Genética
Seres Humanos
Masculino
Polimorfismo de Nucleotídeo Único
Característica Quantitativa Herdável
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161216
[St] Status:MEDLINE
[do] DOI:10.1534/genetics.116.193623


  5 / 151 MEDLINE  
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[PMID]:27903613
[Au] Autor:Pedersen CT; Lohmueller KE; Grarup N; Bjerregaard P; Hansen T; Siegismund HR; Moltke I; Albrechtsen A
[Ad] Endereço:Department of Biology, Section for Computational and RNA Biology, University of Copenhagen, 2200 Copenhagen N, Denmark ida@binf.ku.dk albrecht@binf.ku.dk.
[Ti] Título:The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit.
[So] Source:Genetics;205(2):787-801, 2017 Feb.
[Is] ISSN:1943-2631
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The genetic consequences of population bottlenecks on patterns of deleterious genetic variation in human populations are of tremendous interest. Based on exome sequencing of 18 Greenlandic Inuit we show that the Inuit have undergone a severe ∼20,000-year-long bottleneck. This has led to a markedly more extreme distribution of allele frequencies than seen for any other human population tested to date, making the Inuit the perfect population for investigating the effect of a bottleneck on patterns of deleterious variation. When comparing proxies for genetic load that assume an additive effect of deleterious alleles, the Inuit show, at most, a slight increase in load compared to European, East Asian, and African populations. Specifically, we observe <4% increase in the number of derived deleterious alleles in the Inuit. In contrast, proxies for genetic load under a recessive model suggest that the Inuit have a significantly higher load (20% increase or more) compared to other less bottlenecked human populations. Forward simulations under realistic models of demography support our empirical findings, showing up to a 6% increase in the genetic load for the Inuit population across all models of dominance. Further, the Inuit population carries fewer deleterious variants than other human populations, but those that are present tend to be at higher frequency than in other populations. Overall, our results show how recent demographic history has affected patterns of deleterious variants in human populations.
[Mh] Termos MeSH primário: Carga Genética
Migração Humana
Inuítes/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Evolução Molecular
Exoma
Frequência do Gene
Groenlândia
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170530
[Lr] Data última revisão:
170530
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161202
[St] Status:MEDLINE
[do] DOI:10.1534/genetics.116.193821


  6 / 151 MEDLINE  
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[PMID]:27632780
[Au] Autor:Fareed M; Kaisar Ahmad M; Azeem Anwar M; Afzal M
[Ad] Endereço:Department of Zoology, Aligarh Muslim University, Aligarh, India.
[Ti] Título:Impact of consanguineous marriages and degrees of inbreeding on fertility, child mortality, secondary sex ratio, selection intensity, and genetic load: a cross-sectional study from Northern India.
[So] Source:Pediatr Res;81(1-1):18-26, 2017 Jan.
[Is] ISSN:1530-0447
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The aim of our study was to understand the relationship between consanguineous marriages and reproductive outcomes. METHODS: A total of 999 families were recruited from five Muslim populations of Jammu region. Family pedigrees were drawn to access the family history and inbreeding status in terms of coefficient of inbreeding (F). Fertility, mortality, secondary sex ratio, selection intensity, and lethal equivalents were measured using standard methods. RESULTS: The significant differences for gross fertility was found to be higher among inbred groups as compared to the unrelated families (P < 0.05) and higher mortality rates were observed among consanguineous families of all populations in comparison with the non-consanguineous family groups. Moreover, the prenatal and postnatal child mortality rates (i.e., U5MR and U18MR) have presented a persuasive increase with an upsurge in the homozygosity level. The mortality rate was found to be maximum among families with the highest value of coefficient of inbreeding (F). The selection intensity (SI) also showed inflations among families with respect to their increasing inbreeding coefficients. The greater values of lethal equivalents per gamete (LEs/gamete) were observed for autosomal inheritance in comparison with sex-linked inheritance. CONCLUSION: Our conclusive assessment brings out the deleterious consequence of consanguineous marriages on reproductive outcomes.
[Mh] Termos MeSH primário: Mortalidade da Criança
Consanguinidade
Fertilidade
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Criança
Pré-Escolar
Estudos Transversais
Feminino
Fertilidade/genética
Carga Genética
Seres Humanos
Índia/epidemiologia
Masculino
Casamento
Meia-Idade
Linhagem
Gravidez
Razão de Masculinidade
Fatores Socioeconômicos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160916
[St] Status:MEDLINE
[do] DOI:10.1038/pr.2016.177


  7 / 151 MEDLINE  
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[PMID]:27576130
[Au] Autor:Verduijn J; Milaneschi Y; Peyrot WJ; Hottenga JJ; Abdellaoui A; de Geus EJ; Smit JH; Breen G; Lewis CM; Boomsma DI; Beekman AT; Penninx BW
[Ad] Endereço:Department of Psychiatry and Neuroscience Campus Amsterdam, VU University Medical Center/GGZ inGeest; Amsterdam, the Netherlands; EMGO Institute for Health and Care Research; Amsterdam, the Netherlands. Electronic address: judithverduijn@gmail.com.
[Ti] Título:Using Clinical Characteristics to Identify Which Patients With Major Depressive Disorder Have a Higher Genetic Load for Three Psychiatric Disorders.
[So] Source:Biol Psychiatry;81(4):316-324, 2017 Feb 15.
[Is] ISSN:1873-2402
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Limited successes of gene finding for major depressive disorder (MDD) may be partly due to phenotypic heterogeneity. We tested whether the genetic load for MDD, bipolar disorder, and schizophrenia (SCZ) is increased in phenotypically more homogenous MDD patients identified by specific clinical characteristics. METHODS: Patients (n = 1539) with a DSM-IV MDD diagnosis and control subjects (n = 1792) were from two large cohort studies (Netherlands Study of Depression and Anxiety and Netherlands Twin Register). Genomic profile risk scores (GPRSs) for MDD, bipolar disorder, and SCZ were based on meta-analysis results of the Psychiatric Genomics Consortium. Regression analyses (adjusted for year of birth, sex, three principal components) examined the association between GPRSs with characteristics and GPRSs with MDD subgroups stratified according to the most relevant characteristics. The proportion of liability variance explained by GPRSs for each MDD subgroup was estimated. RESULTS: GPRS-MDD explained 1.0% (p = 4.19e ) of MDD variance, and 1.5% (p = 4.23e ) for MDD endorsing nine DSM symptoms. GPRS-bipolar disorder explained 0.6% (p = 2.97e ) of MDD variance and 1.1% (p = 1.30e ) for MDD with age at onset <18 years. GPRS-SCZ explained 2.0% (p = 6.15e ) of MDD variance, 2.6% (p = 2.88e ) for MDD with higher symptom severity, and 2.3% (p = 2.26e ) for MDD endorsing nine DSM symptoms. An independent sample replicated the same pattern of stronger associations between cases with more DSM symptoms, as compared to overall MDD, and GPRS-SCZ. CONCLUSIONS: MDD patients with early age at onset and higher symptom severity have an increased genetic risk for three major psychiatric disorders, suggesting that it is useful to create phenotypically more homogenous groups when searching for genes associated with MDD.
[Mh] Termos MeSH primário: Transtorno Bipolar/genética
Transtorno Depressivo Maior/genética
Carga Genética
Predisposição Genética para Doença
Esquizofrenia/genética
[Mh] Termos MeSH secundário: Adulto
Idade de Início
Transtorno Bipolar/diagnóstico
Transtorno Depressivo Maior/diagnóstico
Feminino
Seres Humanos
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
Escalas de Graduação Psiquiátrica
Fatores de Risco
Esquizofrenia/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170810
[Lr] Data última revisão:
170810
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160831
[St] Status:MEDLINE


  8 / 151 MEDLINE  
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[PMID]:27806167
[Au] Autor:Riglin L; Collishaw S; Thapar AK; Dalsgaard S; Langley K; Smith GD; Stergiakouli E; Maughan B; O'Donovan MC; Thapar A
[Ad] Endereço:Division of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.
[Ti] Título:Association of Genetic Risk Variants With Attention-Deficit/Hyperactivity Disorder Trajectories in the General Population.
[So] Source:JAMA Psychiatry;73(12):1285-1292, 2016 Dec 01.
[Is] ISSN:2168-6238
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: Attention-deficit/hyperactivity disorder (ADHD) is a heritable neurodevelopmental disorder that shows clinical and genetic overlap with other childhood neurodevelopmental disorders. Levels of ADHD symptoms typically decline across childhood and adolescence, although they remain elevated for some individuals. The determinants of symptom persistence and decline are not yet fully understood. Objectives: To test the hypothesis that genetic risk variant load for ADHD (indexed by polygenic risk scores [PRS]), but not for other psychiatric disorders, is associated with population-based ADHD symptom trajectories across childhood and adolescence, and to examine whether higher genetic liability for ADHD is correlated with total number of additional neurodevelopmental disorders (multimorbidity) in childhood. Design, Setting, and Participants: The Avon Longitudinal Study of Parents and Children, an ongoing prospective population-based cohort study, has been collecting data on 14 701 children, including 9757 with data on symptoms of ADHD at multiple time points, since September 6, 1990. The primary exposure variables, PRS, were generated using results of a genome-wide association study from the Psychiatric Genomics Consortium. Childhood multimorbidity scores (ages 7-9 years) were measured by total impairments in 4 domains known to share genetic liability with ADHD: IQ, social communication, pragmatic language, and conduct. Data analysis was conducted from March 1 to September 8, 2016. Main Outcomes and Measures: Attention-deficit/hyperactivity disorder symptom trajectories from ages 4 to 17 years (7 time points). Results: Among 9757 children with data on symptoms of ADHD at multiple time points (age range, 4-17 years; 4968 boys and 4789 girls), 4 ADHD symptom trajectories were identified: low (82.6%), intermediate (7.7%), childhood-limited (5.8%), and persistent (3.9%). Mean (SE) PRS for ADHD were higher in children in the persistent trajectory (0.254 [0.069]) compared with each of the other 3 trajectories (low, -0.018 [0.014], χ21 = 14.67, P < .001, odds ratio, 1.31; intermediate, 0.054 [0.055], χ21 = 4.70, P = .03, odds ratio, 1.22; and childhood-limited, 0.017 [0.060], χ21 = 6.50, P = .01, odds ratio, 1.27). Findings were specific to PRS for ADHD; PRS for other psychiatric conditions did not differ across trajectories. The proportion of children with multimorbidity was also highest in those in the persistent trajectory (42.5%; 95% CI, 33.9%-51.1%; P < .001) and was associated with persistence of ADHD symptoms independent of PRS. Conclusions and Relevance: Persistence of ADHD symptoms across childhood and adolescence in the general population is associated with higher PRS for ADHD. Childhood multimorbidity was also associated with persistence of ADHD symptoms and may help to identify children with ADHD whose symptoms are most likely to continue into adolescence.
[Mh] Termos MeSH primário: Transtorno do Deficit de Atenção com Hiperatividade/genética
Carga Genética
Predisposição Genética para Doença/genética
Variação Genética/genética
Herança Multifatorial/genética
[Mh] Termos MeSH secundário: Adolescente
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia
Estudos de Casos e Controles
Criança
Pré-Escolar
Estudos de Coortes
Comorbidade
Transtorno da Conduta/epidemiologia
Transtorno da Conduta/genética
Inglaterra
Feminino
Genética Populacional
Seres Humanos
Estudos Longitudinais
Masculino
Transtornos do Neurodesenvolvimento/epidemiologia
Transtornos do Neurodesenvolvimento/genética
Vigilância da População
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161103
[St] Status:MEDLINE
[do] DOI:10.1001/jamapsychiatry.2016.2817


  9 / 151 MEDLINE  
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[PMID]:27512114
[Au] Autor:Zhang M; Zhou L; Bawa R; Suren H; Holliday JA
[Ad] Endereço:Department of Forest Resources and Environmental Conservation, Virginia Polytechnic Institute and State University.
[Ti] Título:Recombination Rate Variation, Hitchhiking, and Demographic History Shape Deleterious Load in Poplar.
[So] Source:Mol Biol Evol;33(11):2899-2910, 2016 Nov.
[Is] ISSN:1537-1719
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Deleterious alleles are expected to be purged by purifying selection or maintained at low frequency. However, many additional evolutionary forces may shape the pattern of deleterious mutations across the genome and among populations, including selection, hitchhiking, recombination, and demographic history. We used exome capture data to estimate the genome-wide distribution of deleterious alleles across natural populations of the model tree black cottonwood (Populus trichocarpa). Although deleterious alleles were on average present at low frequency suggesting purifying selection, they were preferentially enriched both within genomic regions of low-recombination and in regions showing evidence of positive selection. The demographic history of this species also appeared to play a role in the distribution of deleterious alleles among populations, with peripheral populations having higher rates of deleterious homozygosity. This be due to less efficient selection arising from smaller effective population sizes at the edges of the range, and possibly also due to recent bottlenecks associated with postglacial recolonization. Finally, correlations between deleterious homozygosity and plant growth suggest a significant effect of deleterious load on fitness. Our results show that both genomic context and historical demography play a role in shaping the distribution of deleterious alleles across the genome and range of P. trichocarpa.
[Mh] Termos MeSH primário: Populus/genética
[Mh] Termos MeSH secundário: Alelos
Bases de Dados de Ácidos Nucleicos
Demografia/métodos
Evolução Molecular
Frequência do Gene
Carga Genética
Variação Genética
Genoma de Planta
Genômica
Homozigoto
Densidade Demográfica
Recombinação Genética
Seleção Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170621
[Lr] Data última revisão:
170621
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160812
[St] Status:MEDLINE


  10 / 151 MEDLINE  
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[PMID]:27510606
[Au] Autor:Michot P; Chahory S; Marete A; Grohs C; Dagios D; Donzel E; Aboukadiri A; Deloche MC; Allais-Bonnet A; Chambrial M; Barbey S; Genestout L; Boussaha M; Danchin-Burge C; Fritz S; Boichard D; Capitan A
[Ad] Endereço:UMR 1313 GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
[Ti] Título:A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds.
[So] Source:Genet Sel Evol;48(1):56, 2016 08 10.
[Is] ISSN:1297-9686
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Domestication and artificial selection have resulted in strong genetic drift, relaxation of purifying selection and accumulation of deleterious mutations. As a consequence, bovine breeds experience regular outbreaks of recessive genetic defects which might represent only the tip of the iceberg since their detection depends on the observation of affected animals with distinctive symptoms. Thus, recessive mutations resulting in embryonic mortality or in non-specific symptoms are likely to be missed. The increasing availability of whole-genome sequences has opened new research avenues such as reverse genetics for their investigation. Our aim was to characterize the genetic load of 15 European breeds using data from the 1000 bull genomes consortium and prove that widespread harmful mutations remain to be detected. RESULTS: We listed 2489 putative deleterious variants (in 1923 genes) segregating at a minimal frequency of 5 % in at least one of the breeds studied. Gene enrichment analysis showed major enrichment for genes related to nervous, visual and auditory systems, and moderate enrichment for genes related to cardiovascular and musculoskeletal systems. For verification purposes, we investigated the phenotypic consequences of a frameshift variant in the retinitis pigmentosa-1 gene segregating in several breeds and at a high frequency (27 %) in Normande cattle. As described in certain human patients, clinical and histological examination revealed that this mutation causes progressive degeneration of photoreceptors leading to complete blindness in homozygotes. We established that the deleterious allele was even more frequent in the Normande breed before 1975 (>40 %) and has been progressively counter-selected likely because of its associated negative effect on udder morphology. Finally, using identity-by-descent analysis we demonstrated that this mutation resulted from a unique ancestral event that dates back to ~2800 to 4000 years. CONCLUSIONS: We provide a list of mutations that likely represent a substantial part of the genetic load of domestication in European cattle. We demonstrate that they accumulated non-randomly and that genes related to cognition and sensory functions are particularly affected. Finally, we describe an ancestral deleterious variant segregating in different breeds causing progressive retinal degeneration and irreversible blindness in adult animals.
[Mh] Termos MeSH primário: Doenças dos Bovinos/genética
Bovinos/genética
Proteínas do Olho/genética
Mutação da Fase de Leitura
Degeneração Retiniana/genética
Genética Reversa
[Mh] Termos MeSH secundário: Animais
Cruzamento
Análise Mutacional de DNA
Frequência do Gene
Genes Recessivos
Carga Genética
Genótipo
Masculino
Fenótipo
Retina/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Eye Proteins)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160812
[St] Status:MEDLINE
[do] DOI:10.1186/s12711-016-0232-y



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