猪13号染色体上拷贝数变异区内基因信息发掘及遗传规律分析

Investigation of genes within copy number variation regions in pig chromosome 13 and analysis of the genetic law

拷贝数变异(Copy number variation,CNV)是染色体上发生的一种微结构变异,已引起越来越多研究者的关注。本课题组前期已获得猪13号染色体上的32个CNV区域(CNV region,CNVR),为了发掘CNVR内的基因信息,文章在线检索了上述CNVR内的基因并进行基因本体(Gene Ontology)分析。结果共发现236个基因,其中有注释基因169个,主要参与蛋白质水解、细胞粘附、大分子降解等生物过程。为了探索这些基因拷贝数变异的遗传规律,文章选择RCAN1(Regulators of calcineurin 1)基因为候选基因,利用QPCR方法在莱芜猪群中检测了该基因的拷贝数,并分析了CNV在莱芜猪3个家系中的遗传规律。结果表明,RCAN1基因在莱芜猪群体中存在拷贝数的缺失、重复现象,其拷贝数变异的遗传规律符合孟德尔遗传方式。

Copy number variation （CNV）,referring to a genome structure variation,has attracted researchers＇ great interests.Thirty-two CNV regions （CNV region,CNVR） have been detected on chromosome 13 in our previous work.In order to detect the genes located in these CNVRs,we first obtained the annotated information from Ensembl database,and searched gene functional enrichments using DAVID online tools.In the 32 CNVRs,a total of 236 genes were identified,in which 169 genes were annotated.Gene Ontology （GO） analysis revealed that these genes mainly participate in proteolysis,cell adhesion,and macromolecular catabolic process.To study the genetic law of these CNVs,we chose the RCAN1 （regulators ofcalcineurin 1） gene as the candidate.We quantified the copy number ofRCAN1 gene in 38 Laiwu pigs by using QPCR method,and analyzed the genetic laws in three Laiwu families including 15 pigs.QPCR results showed that both duplication and deletion occurred in RCAN1 gene among Laiwu pigs and the heredity mode corresponds with Mendelian genetic law.