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[PMID]: 29230876 [Au] Autor: Casellas J [Ad] Endereço: Grup de Recerca en Millora Genètica Molecular Veterinària, Departament de Ciència Animal i dels Aliments, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Ti] Título: On individual-specific prediction of hidden inbreeding depression load. [So] Source: J Anim Breed Genet;135(1):37-44, 2018 Feb. [Is] ISSN: 1439-0388 [Cp] País de publicação: Germany [La] Idioma: eng [Ab] Resumo: Inbreeding depression is caused by increased homozygosity in the genome and merges two genetic mechanisms, a higher impact from recessive mutations and the waste of overdominance contributions. It is of major concern for the conservation of endangered populations of plants and animals, as major abnormalities are more frequent in inbred families than in outcrosses. Nevertheless, we lack appropriate analytical methods to estimate the hidden inbreeding depression load (IDL) in the genome of each individual. Here, a new mixed linear model approach has been developed to account for the inbreeding depression-related background of each individual in the pedigree. Within this context, inbred descendants contributed relevant information to predict the IDL contained in the genome of a given ancestor; moreover, known relationships spread these predictions to the remaining individuals in the pedigree, even if not contributing inbred offspring. Results obtained from the analysis of weaning weight in the MARET rabbit population demonstrated that the genetic background of inbreeding depression distributed heterogeneously across individuals and inherited generation by generation. Moreover, this approach was clearly preferred in terms of model fit and complexity when compared with classical approaches to inbreeding depression. This methodology must be viewed as a new tool for a better understanding of inbreeding in domestic and wild populations. [Mh] Termos MeSH primário: Genômica Depressão por Endogamia [Mh] Termos MeSH secundário: Animais Peso Corporal/genética Feminino Modelos Lineares Masculino Linhagem Coelhos Desmame [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1802 [Cu] Atualização por classe: 180213 [Lr] Data última revisão: 180213 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 171213 [St] Status: MEDLINE [do] DOI: 10.1111/jbg.12308

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[PMID]: 28748554 [Au] Autor: Martikainen K; Tyrisevä AM; Matilainen K; Pösö J; Uimari P [Ad] Endereço: Department of Agricultural Sciences, University of Helsinki, Helsinki, Finland. [Ti] Título: Estimation of inbreeding depression on female fertility in the Finnish Ayrshire population. [So] Source: J Anim Breed Genet;134(5):383-392, 2017 Oct. [Is] ISSN: 1439-0388 [Cp] País de publicação: Germany [La] Idioma: eng [Ab] Resumo: Single nucleotide polymorphism (SNP) data enable the estimation of inbreeding at the genome level. In this study, we estimated inbreeding levels for 19,075 Finnish Ayrshire cows genotyped with a low-density SNP panel (8K). The genotypes were imputed to 50K density, and after quality control, 39,144 SNPs remained for the analysis. Inbreeding coefficients were estimated for each animal based on the percentage of homozygous SNPs (F ), runs of homozygosity (F ) and pedigree (F ). Phenotypic records were available for 13,712 animals including non-return rate (NRR), number of inseminations (AIS) and interval from first to last insemination (IFL) for heifers and up to three parities for cows, as well as interval from calving to first insemination (ICF) for cows. Average F was 0.02, F 0.06 and F 0.63. A correlation of 0.71 was found between F and F , 0.66 between F and F and 0.94 between F and F . Pedigree-based inbreeding coefficients did not show inbreeding depression in any of the traits. However, when F or F was used as a covariate, significant inbreeding depression was observed; a 10% increase in F was associated with 5 days longer IFL0 and IFL1, 2 weeks longer IFL3 and 3 days longer ICF2 compared to non-inbred cows. [Mh] Termos MeSH primário: Bovinos/genética Bovinos/fisiologia Fertilidade Depressão por Endogamia Polimorfismo de Nucleotídeo Único Característica Quantitativa Herdável [Mh] Termos MeSH secundário: Animais Feminino Finlândia Genômica Endogamia Fenótipo Reprodução [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1802 [Cu] Atualização por classe: 180207 [Lr] Data última revisão: 180207 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170728 [St] Status: MEDLINE [do] DOI: 10.1111/jbg.12285

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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

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[PMID]: 28410022 [Au] Autor: Richardson J; Smiseth PT [Ti] Título: Intraspecific Competition and Inbreeding Depression: Increased Competitive Effort by Inbred Males Is Costly to Outbred Opponents. [So] Source: Am Nat;189(5):539-548, 2017 May. [Is] ISSN: 1537-5323 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: A recent theoretical model suggests that intraspecific competition is an important determinant of the severity of inbreeding depression. The reason for this is that intraspecific competition is density dependent, leading to a stronger negative effect on inbred individuals if they are weaker competitors than outbred ones. In support of this prediction, previous empirical work shows that inbred individuals are weaker competitors than outbred ones and that intraspecific competition often exacerbates inbreeding depression. Here, we report an experiment on the burying beetle Nicrophorus vespilloides, in which we recorded the outcome of competition over a small vertebrate carcass between an inbred or outbred male resident caring for a brood and a size-matched inbred or outbred male intruder. We found that inbred males were more successful as intruders in taking over a carcass from a male resident and were injured more frequently as either residents or intruders. Furthermore, inbred males gained less mass during the breeding attempt and had a shorter adult life span than outbred males. Finally, successful resident males reared a substantially smaller brood comprised of lighter larvae when the intruder was inbred than when it was outbred. Our results shows that inbred males increased their competitive effort, thus contradicting previous work suggesting that inbred males are weaker competitors. Furthermore, our results shows that inbred intruders impose a greater cost to resident males, suggesting that outbred individuals can suffer fitness costs as a result of competition with inbred ones. [Mh] Termos MeSH primário: Coleópteros/fisiologia Depressão por Endogamia [Mh] Termos MeSH secundário: Animais Coleópteros/genética Coleópteros/crescimento & desenvolvimento Comportamento Competitivo Larva/crescimento & desenvolvimento Masculino Comportamento Paterno Comportamento Social [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1705 [Cu] Atualização por classe: 171116 [Lr] Data última revisão: 171116 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170415 [St] Status: MEDLINE [do] DOI: 10.1086/691328

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[PMID]: 27892699 [Au] Autor: Fareed M; Afzal M [Ad] Endereço: a Human Genetics and Toxicology Laboratory, Section of Genetics, Department of Zoology, Faculty of Life Sciences , Aligarh Muslim University , Aligarh , Uttar Pradesh , India. [Ti] Título: Genetics of consanguinity and inbreeding in health and disease. [So] Source: Ann Hum Biol;44(2):99-107, 2017 Mar. [Is] ISSN: 1464-5033 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: CONTEXT: Inbreeding increases the level of homozygotes for autosomal recessive disorders and is the major objective in clinical studies. The prevalence of consanguinity and the degree of inbreeding vary from one population to another depending on ethnicity, religion, culture and geography. Global epidemiological studies have revealed that consanguineous unions have been significantly associated with increased susceptibility to various forms of inherited diseases. OBJECTIVE: The study aimed to determine the role of consanguinity in human health and to highlight the associated risks for various diseases or disorders. METHODS: PubMed and Google Scholar search engines were used to explore the published literature on consanguinity and its associated risks using the key words "consanguinity", "prevalence", "inbreeding depression", "coefficient of inbreeding", "child health", "mortality", "human health", "homozygosity" and "complex diseases" in different combinations. The studies were screened for eligibility on the basis of their epidemiological relevance. RESULTS: This comprehensive assessment highlights the deleterious consequences in populations with a higher prevalence of consanguinity among different countries worldwide. CONCLUSIONS: To avoid the inbreeding load there is the need to improve socioeconomic and educational status and to increase public awareness of reproductive health and anticipated deleterious effects. Pre-marital and pre-conception counselling of consanguineous populations should be an integral part of health policy to train people and make people aware of its harmful consequences. Furthermore, runs of homozygosity (ROH) and whole-exome sequencing (WES) are useful tools in exploring new genomic signatures for the cause of inbreeding depression. [Mh] Termos MeSH primário: Consanguinidade Doenças Genéticas Inatas/epidemiologia Doenças Genéticas Inatas/genética [Mh] Termos MeSH secundário: Doenças Genéticas Inatas/mortalidade Seres Humanos Depressão por Endogamia Prevalência Fatores Socioeconômicos [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Em] Mês de entrada: 1701 [Cu] Atualização por classe: 170118 [Lr] Data última revisão: 170118 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161129 [St] Status: MEDLINE [do] DOI: 10.1080/03014460.2016.1265148

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[PMID]: 27876804 [Au] Autor: Pemberton JM; Ellis PE; Pilkington JG; Bérénos C [Ad] Endereço: Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh, UK. [Ti] Título: Inbreeding depression by environment interactions in a free-living mammal population. [So] Source: Heredity (Edinb);118(1):64-77, 2017 Jan. [Is] ISSN: 1365-2540 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Experimental studies often find that inbreeding depression is more severe in harsh environments, but the few studies of in situ wild populations available to date rarely find strong support for this effect. We investigated evidence for inbreeding depression by environment interactions in nine traits in the individually monitored Soay sheep population of St Kilda, using genomic inbreeding coefficients based on 37 037 single-nucleotide polymorphism loci, and population density as an axis of environmental variation. All traits showed variation with population density and all traits showed some evidence for depression because of either an individual's own inbreeding or maternal inbreeding. However, only six traits showed evidence for an interaction in the expected direction, and only two interactions were statistically significant. We identify three possible reasons why wild population studies may generally fail to find strong support for interactions between inbreeding depression and environmental variation compared with experimental studies. First, for species with biparental inbreeding only, the amount of observed inbreeding in natural populations is generally low compared with that used in experimental studies. Second, it is possible that experimental studies sometimes actually impose higher levels of stress than organisms experience in the wild. Third, some purging of the deleterious recessive alleles that underpin interaction effects may occur in the wild. [Mh] Termos MeSH primário: Genética Populacional Depressão por Endogamia Ovinos/genética [Mh] Termos MeSH secundário: Animais Tamanho Corporal Meio Ambiente Feminino Aptidão Genética Genótipo Masculino Modelos Genéticos Densidade Demográfica Escócia [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1706 [Cu] Atualização por classe: 170922 [Lr] Data última revisão: 170922 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161124 [St] Status: MEDLINE [do] DOI: 10.1038/hdy.2016.100

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[PMID]: 27870312 [Au] Autor: Duarte MO; Mendes-Rodrigues C; Alves MF; Oliveira PE; Sampaio DS [Ad] Endereço: Instituto de Biologia, Universidade Federal de Uberlândia, Uberlândia, Minas Gerais, Brazil. [Ti] Título: Mixed pollen load and late-acting self-incompatibility flexibility in Adenocalymma peregrinum (Miers) L.G. Lohmann (Bignonieae: Bignoniaceae). [So] Source: Plant Biol (Stuttg);19(2):140-146, 2017 Mar. [Is] ISSN: 1438-8677 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Mixed cross and self-pollen load on the stigma (mixed pollination) of species with late-acting self-incompatibility system (LSI) can lead to self-fertilized seed production. This "cryptic self-fertility" may allow selfed seedling development in species otherwise largely self-sterile. Our aims were to check if mixed pollinations would lead to fruit set in LSI Adenocalymma peregrinum, and test for evidence of early-acting inbreeding depression in putative selfed seeds from mixed pollinations. Experimental pollinations were carried out in a natural population. Fruit and seed set from self-, cross and mixed pollinations were analysed. Further germination tests were carried out for the seeds obtained from treatments. Our results confirm self-incompatibility, and fruit set from cross-pollinations was three-fold that from mixed pollinations. This low fruit set in mixed pollinations is most likely due to a greater number of self- than cross-fertilized ovules, which promotes LSI action and pistil abortion. Likewise, higher percentage of empty seeds in surviving fruits from mixed pollinations compared with cross-pollinations is probably due to ovule discounting caused by self-fertilization. Moreover, germinability of seeds with developed embryos was lower in fruits from mixed than from cross-pollinations, and the non-viable seeds from mixed pollinations showed one-third of the mass of those from cross-pollinations. The great number of empty seeds, lower germinability, lower mass of non-viable seeds, and higher variation in seed mass distribution in mixed pollinations, strongly suggests early-acing inbreeding depression in putative selfed seeds. In this sense, LSI and inbreeding depression acting together probably constrain self-fertilized seedling establishment in A. peregrinum. [Mh] Termos MeSH primário: Bignoniaceae/fisiologia Depressão por Endogamia Polinização Autoincompatibilidade em Angiospermas [Mh] Termos MeSH secundário: Bignoniaceae/genética Bignoniaceae/crescimento & desenvolvimento Biomassa Flores/genética Flores/crescimento & desenvolvimento Flores/fisiologia Frutas/genética Frutas/crescimento & desenvolvimento Frutas/fisiologia Germinação Óvulo Vegetal/genética Óvulo Vegetal/crescimento & desenvolvimento Óvulo Vegetal/fisiologia Pólen/genética Pólen/crescimento & desenvolvimento Pólen/fisiologia Plântulas/genética Plântulas/crescimento & desenvolvimento Plântulas/fisiologia Sementes/genética Sementes/crescimento & desenvolvimento Sementes/fisiologia Autofertilização [Pt] Tipo de publicação: JOURNAL ARTICLE [Em] Mês de entrada: 1703 [Cu] Atualização por classe: 170306 [Lr] Data última revisão: 170306 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161122 [St] Status: MEDLINE [do] DOI: 10.1111/plb.12526

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[PMID]: 27994209 [Au] Autor: Huyen NT [Ad] Endereço: Crop Science Faculty, Food Crop Department, Vietnam National University of Agriculture, Trau quy, Gialam, Hanoi, Vietnam. nguyenthienhuyen@gmail.com. [Ti] Título: Another explanation for the cause of heterosis phenomenon. [So] Source: J Genet;95(4):1065-1072, 2016 Dec. [Is] ISSN: 0973-7731 [Cp] País de publicação: India [La] Idioma: eng [Ab] Resumo: The explanation for heterosis phenomenon is based on ideas: (i) every trait of an organism depends on many genes. (ii) Inbreeding depression and heterosis are related to individual genetic diversity. To assess individual genetic diversity of an organism, I suggest the term number of genetic properties. Assessing the changes of individual genetic diversity caused by self-pollination and cross-pollination reveals that self-pollinating plants of natural cross-pollinating leads to the decrease in individual genetic diversity of offspring and crossing between pure lines of genetic difference leads to the increase in individual genetic diversity of hybrids. Therefore, I propose that the decrease in individual genetic diversity is the cause the of depression and the increase in individual genetic diversity is the cause of heterosis. [Mh] Termos MeSH primário: Heterogeneidade Genética Vigor Híbrido/genética [Mh] Termos MeSH secundário: Algoritmos Cruzamentos Genéticos Genes Recessivos Estudos de Associação Genética Variação Genética Hibridização Genética Depressão por Endogamia Modelos Genéticos Fenótipo Plantas/genética Locos de Características Quantitativas Característica Quantitativa Herdável [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Em] Mês de entrada: 1704 [Cu] Atualização por classe: 171108 [Lr] Data última revisão: 171108 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161221 [St] Status: MEDLINE

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[PMID]: 27887565 [Au] Autor: Xiang T; Christensen OF; Vitezica ZG; Legarra A [Ad] Endereço: Department of Molecular Biology and Genetics, Center for Quantitative Genetics and Genomics, Aarhus University, 8830, Tjele, Denmark. Tao.Xiang@mbg.au.dk. [Ti] Título: Genomic evaluation by including dominance effects and inbreeding depression for purebred and crossbred performance with an application in pigs. [So] Source: Genet Sel Evol;48(1):92, 2016 11 25. [Is] ISSN: 1297-9686 [Cp] País de publicação: France [La] Idioma: eng [Ab] Resumo: BACKGROUND: Improved performance of crossbred animals is partly due to heterosis. One of the major genetic bases of heterosis is dominance, but it is seldom used in pedigree-based genetic evaluation of livestock. Recently, a trivariate genomic best linear unbiased prediction (GBLUP) model including dominance was developed, which can distinguish purebreds from crossbred animals explicitly. The objectives of this study were: (1) methodological, to show that inclusion of marker-based inbreeding accounts for directional dominance and inbreeding depression in purebred and crossbred animals, to revisit variance components of additive and dominance genetic effects using this model, and to develop marker-based estimators of genetic correlations between purebred and crossbred animals and of correlations of allele substitution effects between breeds; (2) to evaluate the impact of accounting for dominance effects and inbreeding depression on predictive ability for total number of piglets born (TNB) in a pig dataset composed of two purebred populations and their crossbreds. We also developed an equivalent model that makes the estimation of variance components tractable. RESULTS: For TNB in Danish Landrace and Yorkshire populations and their reciprocal crosses, the estimated proportions of dominance genetic variance to additive genetic variance ranged from 5 to 11%. Genetic correlations between breeding values for purebred and crossbred performances for TNB ranged from 0.79 to 0.95 for Landrace and from 0.43 to 0.54 for Yorkshire across models. The estimated correlation of allele substitution effects between Landrace and Yorkshire was low for purebred performances, but high for crossbred performances. Predictive ability for crossbred animals was similar with or without dominance. The inbreeding depression effect increased predictive ability and the estimated inbreeding depression parameter was more negative for Landrace than for Yorkshire animals and was in between for crossbred animals. CONCLUSIONS: Methodological developments led to closed-form estimators of inbreeding depression, variance components and correlations that can be easily interpreted in a quantitative genetics context. Our results confirm that genetic correlations of breeding values between purebred and crossbred performances within breed are positive and moderate. Inclusion of dominance in the GBLUP model does not improve predictive ability for crossbred animals, whereas inclusion of inbreeding depression does. [Mh] Termos MeSH primário: Cruzamento Cruzamentos Genéticos Genes Dominantes Genômica/métodos Depressão por Endogamia/genética Sus scrofa/genética [Mh] Termos MeSH secundário: Alelos Animais Feminino Marcadores Genéticos Padrões de Herança/genética Masculino Reprodutibilidade dos Testes [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Genetic Markers) [Em] Mês de entrada: 1702 [Cu] Atualização por classe: 170227 [Lr] Data última revisão: 170227 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161127 [St] Status: MEDLINE

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[PMID]: 27882704 [Au] Autor: Opedal ØH; Albertsen E; Armbruster WS; Pérez-Barrales R; Falahati-Anbaran M; Pélabon C [Ad] Endereço: Centre for Biodiversity Dynamics, Department of Biology, Norwegian University of Science and Technology, NTNU, 7491, Trondheim, Norway. [Ti] Título: Evolutionary consequences of ecological factors: pollinator reliability predicts mating-system traits of a perennial plant. [So] Source: Ecol Lett;19(12):1486-1495, 2016 12. [Is] ISSN: 1461-0248 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: The reproductive-assurance hypothesis predicts that mating-system traits will evolve towards increased autonomous self-pollination in plant populations experiencing unreliable pollinator service. We tested this long-standing hypothesis by assessing geographic covariation among pollinator reliability, outcrossing rates, heterozygosity and relevant floral traits across populations of Dalechampia scandens in Costa Rica. Mean outcrossing rates ranged from 0.16 to 0.49 across four populations, and covaried with the average rates of pollen arrival on stigmas, a measure of pollinator reliability. Across populations, genetically based differences in herkogamy (anther-stigma distance) were associated with variation in stigmatic pollen loads, outcrossing rates and heterozygosity. These observations are consistent with the hypothesis that, when pollinators are unreliable, floral traits promoting autonomous selfing evolve as a mechanism of reproductive assurance. Extensive covariation between floral traits and mating system among closely related populations further suggests that floral traits influencing mating systems track variation in adaptive optima generated by variation in pollinator reliability. [Mh] Termos MeSH primário: Abelhas/fisiologia Euphorbiaceae/genética Euphorbiaceae/fisiologia Pólen/fisiologia Polinização/fisiologia [Mh] Termos MeSH secundário: Animais Costa Rica Cruzamentos Genéticos Feminino Flores Genótipo Heterozigoto Depressão por Endogamia Masculino Repetições de Microssatélites [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Em] Mês de entrada: 1708 [Cu] Atualização por classe: 171121 [Lr] Data última revisão: 171121 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161125 [St] Status: MEDLINE [do] DOI: 10.1111/ele.12701

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