College of Animal Science and Technology, China Agricultural University, Beijing 100193, China.
J Dairy Sci. 2012 Oct;95(10):6122-9. doi: 10.3168/jds.2012-5591. Epub 2012 Aug 23.
The decline in reproductive performance in cattle is of major concern to farmers and the dairy industry worldwide. Most fertility studies in cattle have focused on fertility of the cow, whereas the genetics of male fertility have not been thoroughly investigated. The present study hypothesizes that the high conservation of spermatogenesis genes from fly to human implies important roles of these genes in male fertility in cattle. To test this hypothesis, we performed an association analysis between highly conserved spermatogenesis genes and sire conception rate (SCR) in US Holsteins as a measure of bull fertility. Sequencing analysis revealed 24 single nucleotide polymorphisms (SNP) in 9 genes in the bull population using the pooled DNA sequencing approach. Five SNP previously identified in 5 genes from the POU1F1 pathway were also included in this study because they have shown significant associations with female and male fertility traits. Overall, 29 SNP located in 14 candidate genes were tested for association with sire conception rate in a population of 1,988 bulls. Three SNP located in MAP1B and 1 SNP in PPP1R11 showed significant associations with SCR. For the POU1F1 pathway, single gene analysis revealed significant associations of POU1F1 and STAT5A with SCR. Analysis of genotypic interactions between adjacent genes in the pathway revealed significant associations of STAT5A and UTMP genotypic combinations with SCR. The most significant spermatogenesis gene, MAP1B, was found to be associated with fertilization and blastocyst rates. Thus, the association of these genes with bull fertility testifies to the usefulness of the comparative genomics approach in selecting candidate male fertility genes.
牛的繁殖性能下降是全世界农民和奶牛业的主要关注点。大多数牛的生育力研究都集中在母牛的生育力上，而对雄性生育力的遗传学研究还没有得到彻底的研究。本研究假设，从苍蝇到人类的精子发生基因的高度保守性意味着这些基因在牛的雄性生育力中起着重要作用。为了验证这一假设，我们对美国荷斯坦牛的精子发生基因与种公牛受胎率（SCR）进行了关联分析，以作为公牛生育力的衡量标准。通过使用 pooled DNA 测序方法，在公牛群体中发现了 9 个基因中的 24 个单核苷酸多态性（SNP）。本研究还包括了从 POU1F1 途径中鉴定出的 5 个基因中的 5 个 SNP，因为它们与雌性和雄性生育力性状有显著关联。总的来说，在 1988 头公牛的群体中，对位于 14 个候选基因中的 29 个 SNP 与种公牛受胎率进行了关联分析。位于 MAP1B 中的 3 个 SNP 和 PPP1R11 中的 1 个 SNP 与 SCR 显著相关。对于 POU1F1 途径，单基因分析显示 POU1F1 和 STAT5A 与 SCR 显著相关。对途径中相邻基因的基因型相互作用进行分析，发现 STAT5A 和 UTMP 基因型组合与 SCR 显著相关。最显著的精子发生基因 MAP1B 与受精率和囊胚率相关。因此，这些基因与公牛生育力的关联证明了比较基因组学方法在选择候选雄性生育力基因方面的有用性。
