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.pdfVIP

Hereditas (Beijing) 2014 年4 月, 36(4): 354 ―359 研究报告 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 刘静, 王亚楠, 孙亚奇, 王洪洋, 汪超, 彭中镇, 刘榜 华中农业大学动物科技学院, 农业动物遗传育种与繁殖教育部重点实验室, 武汉 430070 摘要: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。 拷贝数变异; 13 号染色体; RCAN1 基因; 遗传规律; 莱芜猪 关键词: Investigation of genes within copy number variation regions in pig chromosome 13 and analysis of the genetic law Jing Liu, Yanan Wang, Yaqi Sun, Hongyang Wang, Chao Wang, Zhongzhen Peng, Bang Liu Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education , College of Animal Science and Technology, Huazhong Agricultural University, Wuhan 430070, China Abstract: Copy number variation (CNV), referring to a genome structure variation, has attracted researchers’ great inter- ests. 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, c