Investigation of genes within copy number variation regions in pig chromosome 13 and analysis of the genetic law
Received date: 2013-10-14
Revised date: 2014-12-30
Online published: 2014-03-20
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 of calcineurin 1) gene as the candidate. We quantified the copy number of RCAN1 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.
Key words： copy number variation; chromosome 13; RCAN1 gene; genetic law; Laiwu pigs
Jing Liu, Yanan Wang, Yaqi Sun, Hongyang Wang, Chao Wang, Zhongzhen Peng, Bang Liu . Investigation of genes within copy number variation regions in pig chromosome 13 and analysis of the genetic law[J]. Hereditas(Beijing), 2014 , 36(4) : 354 -359 . DOI: 10.3724/SP.J.1005.2014.0354
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