荷斯坦牛二酰基甘油酰基转移酶1基因外显子8的单核苷酸多态性位点对蛋白质结构和功能的影响及其进化分析  

Effect of Holstein Cows Diacylglycerol Acyltransferase 1 Gene in Exon 8 on the Protein Structure and Function of Single Nucleotide Polymorphism and its Relationship with its Evolution Analysis

作　　者：刘贤慧[1] 常玲玲[1] 吴正常[1] 李蕊[1] 朱怡慧[1] 毛永江[1] 倪海球[1] 郭娉婷[1] 杨章平[1] 

机构地区：[1]扬州大学动物科学与技术学院,江苏扬州225009

出　　处：《中国畜牧兽医》2013年第7期14-17,共4页China Animal Husbandry & Veterinary Medicine

基　　金：国家自然科学基金(3127407);国家863项目(2008AA10Z144);江苏高校优势学科建设工程资助项目(PAPD)

摘　　要：为了检测荷斯坦牛二酰基甘油酰基转移酶1(diacylglycerol acyltransferase 1,DGAT1)基因外显子8的单核苷酸多态性(SNPs)位点,预测分析碱基突变对蛋白质结构和功能的影响,并讨论不同物种间DGAT1的进化关系。本研究利用PCR-SSCP综合测序方法检测DGAT1基因外显子8的SNPs位点,用生物信息学方法分析DGAT1蛋白的基本性质和结构功能,并分析不同物种间DGAT1氨基酸同源性及构建其进化树。PCR-SSCP分析结果显示,DGAT1基因外显子8存在1个双突变位点,即M694和M695;蛋白质结构和功能预测结果显示,该双突变不影响蛋白质的理化性质和结构,但能引起蛋白质功能域组成发生改变;进化分析结果显示,荷斯坦牛DGAT1氨基酸序列与绵羊同源性最高(99.1%),与黑猩猩同源性最低(65.3%)。This study was aimed to detect the single nucleotide polymorphism （SNPs） of Holstein cows diacylglycerol acyl- transferase 1 （DGAT1） gene in exon 8, and to predict the protein structure and function caused by the mutations and discuss the evolution relationship of DGAT1. PCR-SSCP combined with sequencing was used to detect the SNPs in exon 8 of DGAT1 gene. Bioinformatics approach was used to predict the physicochemical properties and structures of DGAT1 protein. The ap- proach was also used to analyze the amino acid homology of DGAT1 between different species, and to build the evolutionary tree. The PCR-SSCP analysis results showed that a double mutations existed in exon 8 of DGAT1 gene, namely M694 and M695. The prediction of protein structure and function displayed that the double mutation had no influence on the physicochem- ical properties and structures of the protein, but led to the changes in the component of its protein function domain. The evolu- tion analysis results indicated that amino acid sequence homology of DGAT1 between Holstein cows and sheep was the highest （99.1%）, and the homology between Holstein cows and chimpanzees was the lowest （65.3%）.

关 键 词：荷斯坦牛 二酰基甘油酰基转移酶1基因 单核苷酸多态性 生物信息学 

分 类 号：Q753[生物学—分子生物学]