Unit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège (B34), Liège, Belgium.
PLoS One. 2012;7(8):e43085. doi: 10.1371/journal.pone.0043085. Epub 2012 Aug 29.
Fertility is one of the most important traits in dairy cattle, and has been steadily declining over the last decades. We herein use state-of-the-art genomic tools, including high-throughput SNP genotyping and next-generation sequencing, to identify a 3.3 Kb deletion in the FANCI gene causing the brachyspina syndrome (BS), a rare recessive genetic defect in Holstein dairy cattle. We determine that despite the very low incidence of BS (<1/100,000), carrier frequency is as high as 7.4% in the Holstein breed. We demonstrate that this apparent discrepancy is likely due to the fact that a large proportion of homozygous mutant calves die during pregnancy. We postulate that several other embryonic lethals may segregate in livestock and significantly compromise fertility, and propose a genotype-driven screening strategy to detect the corresponding deleterious mutations.
生育能力是奶牛最重要的特征之一，在过去几十年中一直在稳步下降。我们在此使用最先进的基因组工具，包括高通量 SNP 基因分型和下一代测序，鉴定出 FANCI 基因中的 3.3 Kb 缺失导致短脊柱综合征（BS），这是荷斯坦奶牛中罕见的隐性遗传缺陷。我们确定，尽管 BS 的发病率非常低（<1/100,000），但荷斯坦品种的携带者频率高达 7.4%。我们证明，这种明显的差异可能是由于大量纯合突变的小牛在怀孕期间死亡。我们推测，其他几种胚胎致死基因可能在牲畜中分离出来，并严重影响生育能力，并提出了一种基于基因型的筛选策略来检测相应的有害突变。
