牛STAT1基因启动子区多态性研究

Study on the Polymorphism of Promoter Region of STAT1 Gene in Cattle

为筛选STAT1基因启动子区SNP及研究其对启动子功能元件的影响。选择品种差异较大的贵州荷斯坦奶牛和务川黑牛构建不同DNA池,直接测序筛选SNP位点。结果表明:STAT1基因5'调控区及第1外显子存在3个SNPs位点,分别为:T-537G、T-508A、C+10T。生物信息学软件预测得到STAT1基因核心启动子区和转录因子结合位点,SNP位点导致1个转录因子结合位点消失,而产生10个新的转录因子结合位点。CpG岛范围未受到突变位点影响,但STAT1基因RNA二级结构在突变后显著改变。研究结果为进一步确定STAT1启动子功能奠定试验基础。

In order to screen the polymorphisms of STAT1 promoter in cattle and analyze the effect of SNPs on function elements of promoter, two cattle breeds （Wuchuan Black Cattle and Guizhou Holstein cow） with significant difference in breeds property were selected to construct DNA pools, SNP sites were screened by direct sequencing subsequently. The results showed that 3 single nucleotide polymorphisms （SNPs） were found in the 5＇ flanking region which included T-537G, T-508A and C＋ 10T. Furthermore, bioinformatics tools were used to predict the core region of the promoter and identify various transcription factors binding sites. It demonstrated that 10 new transcription factors binding sites emerged while 1 pre- vious transcription factors binding sites disappeared based on the SNPs found in this study, the remarkable change of secondary structure of RNA were also detected but the range of CpG islands were not influenced by the analysis of various softwares. This work could lay the experimental foundation for the identification of function of STAT1 promoter.