Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, West Mains Road, Edinburgh, EH9 3JT, UK.
Mol Ecol. 2014 Jul;23(14):3434-51. doi: 10.1111/mec.12827. Epub 2014 Jun 26.
The estimation of quantitative genetic parameters in wild populations is generally limited by the accuracy and completeness of the available pedigree information. Using relatedness at genomewide markers can potentially remove this limitation and lead to less biased and more precise estimates. We estimated heritability, maternal genetic effects and genetic correlations for body size traits in an unmanaged long-term study population of Soay sheep on St Kilda using three increasingly complete and accurate estimates of relatedness: (i) Pedigree 1, using observation-derived maternal links and microsatellite-derived paternal links; (ii) Pedigree 2, using SNP-derived assignment of both maternity and paternity; and (iii) whole-genome relatedness at 37 037 autosomal SNPs. In initial analyses, heritability estimates were strikingly similar for all three methods, while standard errors were systematically lower in analyses based on Pedigree 2 and genomic relatedness. Genetic correlations were generally strong, differed little between the three estimates of relatedness and the standard errors declined only very slightly with improved relatedness information. When partitioning maternal effects into separate genetic and environmental components, maternal genetic effects found in juvenile traits increased substantially across the three relatedness estimates. Heritability declined compared to parallel models where only a maternal environment effect was fitted, suggesting that maternal genetic effects are confounded with direct genetic effects and that more accurate estimates of relatedness were better able to separate maternal genetic effects from direct genetic effects. We found that the heritability captured by SNP markers asymptoted at about half the SNPs available, suggesting that denser marker panels are not necessarily required for precise and unbiased heritability estimates. Finally, we present guidelines for the use of genomic relatedness in future quantitative genetics studies in natural populations.
在野生种群中,定量遗传参数的估计通常受到可用系谱信息的准确性和完整性的限制。使用全基因组标记的亲缘关系可以潜在地消除这种限制,并导致偏差更小、更精确的估计。我们使用三种越来越完整和准确的亲缘关系估计方法,在圣基尔达的一个未经管理的长期研究群体中估计了无角多塞特羊的体型性状的遗传力、母系遗传效应和遗传相关性:(i)系谱 1,使用观察到的母系联系和微卫星衍生的父系联系;(ii)系谱 2,使用 SNP 衍生的母系和父系分配;(iii)37037 个常染色体 SNP 的全基因组亲缘关系。在初始分析中,所有三种方法的遗传力估计值都非常相似,而基于系谱 2 和基因组亲缘关系的分析的标准误差则系统较低。遗传相关性通常很强,在三种亲缘关系估计值之间差异不大,标准误差仅略有下降,随着亲缘关系信息的改善而略有下降。当将母系效应划分为单独的遗传和环境成分时,在三种亲缘关系估计值中,幼体性状的母系遗传效应显著增加。与仅拟合母系环境效应的平行模型相比,遗传力下降,这表明母系遗传效应与直接遗传效应混淆,并且更准确的亲缘关系估计值能够更好地将母系遗传效应与直接遗传效应分开。我们发现,SNP 标记捕获的遗传力在大约一半的可用 SNP 处趋于平稳,这表明更密集的标记面板不一定需要精确和无偏的遗传力估计值。最后,我们为未来自然种群的数量遗传学研究中使用基因组亲缘关系提供了指导方针。