Key Laboratory of Yak Breeding Engineering, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, China; Laboratory of Animal Genome and Gene Function, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100, China.
Laboratory of Animal Genome and Gene Function, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100, China.
Gene. 2021 Nov 15;802:145867. doi: 10.1016/j.gene.2021.145867. Epub 2021 Aug 2.
Genome-wide association studies (GWAS) have identified DENND1A as a potential candidate gene linked to the fertility-related phenotypes in dairy cows. However, to date, no studies have examined the association of the DENND1A insertion/deletions (indels) to bovine fertility on a large scale. Herein, two indel sites, including P4-del-26-bp and P8-ins-15-bp were identified in 1064 Holstein cows. The values of the minor allelic frequency (MAF) ranged between 0.471 (deletion) and 0.230 (deletion), respectively, and combined four different haplotypes by analyzing the haplotype combination. It is noteworthy that P4-del-26-bp is associated with the ovarian width (P = 0.0004) and corpus luteum diameter (P = 0.004). Meanwhile, P8-ins-15-bp was found to have a significant association with the ovarian width (P = 0.020), ovarian weight (P = 0.004), the number of mature follicles (P = 0.020), and diameter of the mature follicles (P = 0.016). Furthermore, the combinatorial analysis showed that the two indel combined-genotypes were significantly related to several reproductive traits (ovarian width, ovarian weight, etc.). Collectively, our findings indicated that these two novel indels and their combinations are correlated with the reproductive traits, and hence, they can serve in the marker-assisted selection (MAS) in cattle breeding. Nevertheless, further functional experiments are needed for understanding the mechanisms of these indels in cattle reproduction in a better way.
全基因组关联研究（GWAS）已经确定 DENND1A 是与奶牛生殖相关表型相关的潜在候选基因。然而，迄今为止，尚无研究大规模检查 DENND1A 插入/缺失（indels）与牛繁殖力的关联。在此，在 1064 头荷斯坦奶牛中发现了两个 indel 位点，包括 P4-del-26-bp 和 P8-ins-15-bp。次要等位基因频率（MAF）的取值范围分别为 0.471（缺失）和 0.230（缺失），并通过分析单倍型组合组合了四个不同的单倍型。值得注意的是，P4-del-26-bp 与卵巢宽度（P = 0.0004）和黄体直径（P = 0.004）相关。同时，发现 P8-ins-15-bp 与卵巢宽度（P = 0.020），卵巢重量（P = 0.004），成熟卵泡数量（P = 0.020）和成熟卵泡直径（P = 0.016）有显著相关性。此外，组合分析表明，这两个 indel 组合基因型与几个生殖性状（卵巢宽度，卵巢重量等）显著相关。总之，我们的研究结果表明，这两个新的 indels 及其组合与生殖性状相关，因此可以用于牛的标记辅助选择（MAS）。然而，需要进一步的功能实验来更好地理解这些 indels 在牛繁殖中的作用机制。
