Institute of Animal Breeding and Husbandry, Christian-Albrechts-University Kiel, D-24098 Kiel, Germany.
Genetics. 2013 Feb;193(2):431-42. doi: 10.1534/genetics.112.144535. Epub 2012 Dec 5.
The estimation of dominance effects requires the availability of direct phenotypes, i.e., genotypes and phenotypes in the same individuals. In dairy cattle, classical QTL mapping approaches are, however, relying on genotyped sires and daughter-based phenotypes like breeding values. Thus, dominance effects cannot be estimated. The number of dairy bulls genotyped for dense genome-wide marker panels is steadily increasing in the context of genomic selection schemes. The availability of genotyped cows is, however, limited. Within the current study, the genotypes of male ancestors were applied to the calculation of genotype probabilities in cows. Together with the cows' phenotypes, these probabilities were used to estimate dominance effects on a genome-wide scale. The impact of sample size, the depth of pedigree used in deriving genotype probabilities, the linkage disequilibrium between QTL and marker, the fraction of variance explained by the QTL, and the degree of dominance on the power to detect dominance were analyzed in simulation studies. The effect of relatedness among animals on the specificity of detection was addressed. Furthermore, the approach was applied to a real data set comprising 470,000 Holstein cows. To account for relatedness between animals a mixed-model two-step approach was used to adjust phenotypes based on an additive genetic relationship matrix. Thereby, considerable dominance effects were identified for important milk production traits. The approach might serve as a powerful tool to dissect the genetic architecture of performance and functional traits in dairy cattle.
优势效应的估计需要直接表型的可用性,即同一个体的基因型和表型。然而,在奶牛中,经典的 QTL 映射方法依赖于经过基因分型的种公牛和基于女儿的表型,如育种值。因此,无法估计优势效应。在基因组选择计划的背景下,越来越多的奶牛被基因分型用于密集的全基因组标记面板。然而,经过基因分型的奶牛的可用性是有限的。在当前的研究中,雄性祖先的基因型被应用于计算奶牛的基因型概率。这些概率与奶牛的表型一起用于在全基因组范围内估计优势效应。在模拟研究中分析了样本量、用于推导基因型概率的系谱深度、QTL 和标记之间的连锁不平衡、由 QTL 解释的方差分数以及优势程度对检测优势的能力的影响。还解决了动物之间的亲缘关系对检测特异性的影响。此外,该方法还应用于一个包含 47 万头荷斯坦奶牛的真实数据集。为了考虑动物之间的亲缘关系,使用混合模型两步法基于加性遗传关系矩阵来调整表型。从而,为重要的产奶性状确定了相当大的优势效应。该方法可以作为一种强大的工具,用于剖析奶牛性能和功能性状的遗传结构。