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Identification of genes associated with reproductive function in dairy cattle

机译：奶牛生殖功能相关基因的鉴定

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The use of genomics has improved response to selection for functional traits with low heritability such as fertility traits. Much of the work on fertility traits has been performed through use of genome-wide association studies (GWAS) to identify genetic loci associated with reproductive traits. Under a GWAS approach, the assumption is that the markers on the panel are in linkage disequilibrium with causative mutations. In many cases, identification of the causative mutation is difficult because an associated genetic marker can be in intergenic regions and can be in linkage disequilibrium with variants in several nearby genes. Another approach is to identify candidate genes using knowledge of the biological pathways controlling a trait to search for single nucleotide polymorphism (SNP) in genes in those pathways. This should reveal putative causative markers responsible for genetic variation in biological function, and it is expected that the marker will be more strongly associated with a trait than one in linkage disequilibrium. An example of how a series of candidate gene studies demonstrate that identification of markers in genes involved in reproductive processes can lead to discovery of additional markers associated with genetic variation in reproductive traits is presented. In addition, the inclusion of candidate markers for fertility can improve reliability of genetic estimates for fertility traits, and the repeatability of the effects across a separate population of animals gives confidence that association elucidated by this set of markers is likely to be real. More importantly, the use of candidate genes can provide insights into the biology underpinning genetic variation in fertility, and that this understanding can lead to physiological interventions to improve reproductive function.
机译：基因组学的使用改善了对遗传力低的功能性状如生育性状选择的响应。关于生育性状的许多工作是通过使用全基因组关联研究（GWAS）来鉴定与生殖性状相关的遗传基因座而进行的。在GWAS方法下，假设是面板上的标记与因果突变连锁不平衡。在许多情况下，很难确定引起突变的原因，因为相关的遗传标记可能位于基因间区域，并且可能与附近几个基因的变体连锁不平衡。另一种方法是使用控制性状的生物学途径的知识来鉴定候选基因，以在那些途径的基因中搜索单核苷酸多态性（SNP）。这应该揭示导致生物学功能遗传变异的推定的致病标记，并且预期该标记与性状的关联性比连锁不平衡中的一个更强。提供了一个有关一系列候选基因研究如何证明在生殖过程中涉及的基因中鉴定标志物可以导致发现与生殖性状遗传变异相关的其他标志物的例子。此外，纳入生育力候选标记可以提高生育力性状遗传估计的可靠性，而且在单独的动物种群中效应的可重复性使人相信，通过这组标记阐明的关联可能是真实的。更重要的是，候选基因的使用可以提供对生育力遗传变异基础的生物学的深刻见解，并且这种理解可以导致生理干预以改善生殖功能。

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