Abstract

Sperm-associated antigen 17 (SPAG17) gene encodes a central pair protein, which is involved in flagellar motility, male fertility and skeletal growth in ruminants. The insertions/deletions (indels) and copy number variations (CNVs) influence phenotypic traits by altering the sequences and copy numbers of functional genes, respectively. This study identified a novel 8-bp indel of SPAG17 gene in 1520 individuals from eight different cattle breeds, as well as a novel CNV region in 355 animals. The correlation analysis of indel showed that the individuals of ID genotype had superior performance traits such as body height (p = 0.038) and body slanting length (p = 0.041) as compared to other genotypes in Xianan cattle. For the CNV, different copy numbers were closely related to the body height in Qinchuan (p = 0.045) and body weight in Xianan (p = 0.036) breeds. Importantly, significant difference was observed between the 8-bp indel and the copy number loss in Xianan breed (p < 0.01). These findings indicated that the variations within the bovine SPAG17 gene can be considered as an effective DNA molecular marker for beef cattle breeding.

摘要

精子相关抗原 17 ( SPAG17 ) 基因编码一个中心配对蛋白，该蛋白参与反刍动物的鞭毛运动、雄性生育力和骨骼生长。插入/缺失（indels）和拷贝数变异（CNV）分别通过改变功能基因的序列和拷贝数来影响表型性状。这项研究在来自 8 个不同牛品种的 1520 个个体中发现了SPAG17基因的一个新的 8 bp 插入缺失，以及在 355 只动物中发现了一个新的 CNV 区域。indel相关分析表明， 与其他基因型的夏南牛相比， ID基因型个体具有更优越的体高（ p  =0.038）和体斜长（p =0.041）等性能性状。对于CNV，不同的拷贝数与秦川品种的体高（ p  = 0.045）和夏南品种的体重（p  = 0.036）密切相关。重要的是，在夏南品种中，8 bp 插入缺失和拷贝数丢失之间观察到显着差异（p  < 0.01）。这些发现表明牛SPAG17基因内的变异可以被认为是肉牛育种的有效DNA分子标记。