Identification of bovine NPC1 gene cSNPs and their effects on body size traits of Qinchuan cattle
Identification of bovine NPC1 gene cSNPs and their effects on body size traits of Qinchuan cattle
复制标题
DOI：
10.1016/j.gene.2014.03.001
复制
发表时间：
2014-05-01
期刊：
影响因子：
3.5
通讯作者：
Chen, Hong
中科院分区：
文献类型：
--
作者：
Dang, Yonglong;Li, Mingxun;Chen, Hong
NPC 1基因是与C型尼曼匹克（Niemann-Pick type C，NPC）密切相关的重要基因。NPC 1基因的突变倾向于导致尼曼-匹克C型，一种溶酶体储存疾病。已有研究表明，NPC 1蛋白在发育过程中的基本代谢活动--亚细胞脂质转运、稳态、血小板功能和形成中起重要作用。为探讨秦川牛NPC 1基因变异与体尺性状的关系，本研究在秦川牛NPC 1基因上检测到4个新的编码单核苷酸多态性（cSNPs），包括1个错义突变（SNP 1）和3个同义突变（SNP 2、SNP 3和SNP 4）。本研究对518个个体进行群体遗传分析，并对cSNPs与牛体尺性状进行关联分析。SNP 1位点的错义突变与胸围、臀宽和体重显著相关（P < 0.01或P < 0.05，3.5岁）。SNP 2和SNP 3两个同义突变也对髋宽有显著影响（P < 0.05，3.5岁）。SNP 4位点的一个同义突变对体重有显著影响（P < 0.05，2.0岁）。H2 H6和H6 H6的组合对3.5龄猪的胸围、臀宽和体重等体尺性状有显著影响（P < 0.01或P < 0.05）。该研究结果表明，NPC 1基因可能参与牛的生长发育调控，并可作为标记辅助选择（MAS）的候选基因应用于肉牛育种。(C)2014由Elsevier B. V.出版
NPC1 gene is an important gene closely related to the Niemann-Pick type C (NPC). Mutations in the NPC1 gene tend to cause Niemann-Pick type C, a lysosomal storage disorder. Previous studies have shown that NPC1 protein plays an important role in subcellular lipid transport, homeostasis, platelet function and formation, which are basic metabolic activities in the process of development. In this study, to explore the association between the NPC1 gene variation and body size traits in Qinchuan cattle, we detected four novel coding single nucleotide polymorphisms (cSNPs) in the bovine NPC1 gene, including one missense mutation (SNP1) and three synonymous mutations (SNP2, SNP3 and SNP4). Population genetic analyses of 518 individuals and association correlations between cSNPs and bovine body size traits were conducted in this research. A missense mutation at SNP1 locus was found to be significantly related to the heart girth, hip width and body weight (P < 0.01 or P < 0.05, 3.5-year-old). Two synonymous mutations at SNP2 and SNP3 loci also showed significant effects on hip width (P < 0.05, 3.5-year-old). One synonymous mutation at SNP4 locus showed significant effect on body weight (P < 0.05, 2.0-year-old). Combined haplotypes H2H6 and H6H6 showed significant effects on body size traits such as heart girth, hip width, and body weight (3.5-year-old, P < 0.01 or P < 0.05). This study provides evidence that the NPC1 gene might be involved in the regulation of bovine growth and body development, and may be considered as a candidate gene for marker assisted selection (MAS) in beef cattle breeding industry. (C) 2014 Published by Elsevier B.V.