内蒙古绒山羊PRDM6基因插入/缺失(InDel)检测及其与生长性状的关联分析

Detection of insertion/deletion(InDel)of PRDM6 gene in Inner Mongolia cashmere goats and its association analysis with growth traits

PRDM6属于PRDM蛋白家族的一员,PRDM6基因编码1个转录抑制因子,具有与DNA、RNA、蛋白质结合的能力,同时还具有组蛋白赖氨酸N-甲基转移酶活性。全基因组关联分析结果显示,PRDM6基因遗传变异与骨密度和体质量等性状显著相关,且该基因插入/缺失(Indel)遗传变异还被发现与陕北白绒山羊的多个生长性状显著相关。因此,本研究将PRDM6基因作为研究对象,以期挖掘到与内蒙古绒山羊生长性状相关的关键遗传变异位点。结合Ensembl数据库提供的山羊PRDM6遗传变异信息和已发表文章中的遗传变异位点,本研究探究了2个InDel位点(rs656578433、rs651603667)多态性及其在内蒙古绒山羊群体中的分布规律。发现在本研究检测的群体中,只有第一内含子区的12 bp InDel(rs651603667)存在多态性。不同基因型与生长性状的关联分析结果显示,rs651603667存在3种基因型,即纯合插入型(II)、杂合型(ID)和纯合缺失型(DD),频率分别为0.399、0.444、0.159。在育成羊群体中,此rs651603667突变与体质量、胸深显著相关(P<0.05);在成年羊群体中,rs651603667突变与体长、髋宽显著相关(P<0.05),和体高、胸深极极显著相关(P<0.01);此外,皮尔逊(Pearson)相关分析结果显示,该突变位点显著影响的生长性状均与体质量存在极显著相关(P<0.01)。综上,PRDM6基因12 bp InDel突变位点与内蒙古绒山羊体长、髋宽和体高、胸深具有显著或极显著相关性,可作为内蒙古绒山羊生长性状选育的有效分子标记。

PRDM6 is a member of PRDM protein family.PRDM6 gene encodes a transcriptional repressor,which can bind to DNA,RNA and proteins,and also has histone lysine N-methyltransferase activity.The results of genome-wide association analysis showed that genetic variations of PRDM6 gene were significantly associated with bone mineral density and body weight.In addition,the insertion/deletion(InDel)genetic variations of PRDM6 were significantly associated with multiple growth traits in Shanbei white cashmere goats.Therefore,this study took PRDM6 as the research object in order to dig out the key genetic variation sites related to the growth traits of Inner Mongolia cashmere goats.Based on the genetic variation information of goat PRDM6 provided by Ensembl database and the genetic variation loci in the published articles,the polymorphism of two InDel loci(rs656578433,rs651603667)and their distribution in Inner Mongolia cashmere goat population were investigated in this study.Only the 12 bp InDel(rs651603667)in the first intron region was polymorphic in the population tested in this study.Different genotypes of 638 Inner Mongolia cashmere goats rs651603667 were identified,and the correlation between different genotypes and growth traits was analyzed.The results showed that there were three genotypes of rs651603667,namely homozygous insertion type(II),heterozygous type(ID)and homozygous deletion type(DD),with frequencies of 0.399(II),0.444(ID)and 0.159(DD).In yearling goat population,the rs651603667 mutation was significantly correlated with body weight and chest depth(P<0.05).In adult goat population,rs651603667 mutation was significantly correlated with body length and hip width(P<0.05),and extremely significantly correlated with body height and chest depth(P<0.01).In addition,the results of Pearson correlation analysis indicated that the growth traits significantly affected by the mutation site were significantly correlated with body weight(P<0.01).In conclusion,the 12 bp InDel mutation site of PRDM6 gene is significantly or extremely significantly correlated with body length,hip width,body height and chest depth of Inner Mongolia cashmere goats,which can be used as an effective molecular marker for the breeding of growth traits of Inner Mongolia cashmere goats.