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

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%)。

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

This study was aimed to detect the single nucleotide polymorphism (SNPs) of Holstein cows diacylglycerol acyltransferase 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 approach 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 physicochemical properties and structures of the protein, but led to the changes in the component of its protein function domain. The evolution 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%).