贵州地方山羊BMPR-ⅠB基因启动子区多态性及生物信息学分析

doi:10.16431/j.cnki.1671-7236.2020.04.004

摘要/Abstract

摘要： 为探究骨形态发生蛋白受体ⅠB（bone morphogenetic protein receptor ⅠB，BMPR-ⅠB）基因启动子区多态性及其与繁殖性状的相关性，本试验以贵州3个地方山羊品种（黔北麻羊、贵州黑山羊及贵州白山羊）为研究对象，通过构建混合DNA池PCR产物直接测序技术筛选SNPs位点，并采用多种生物信息学软件预测SNPs位点对核心启动子区、CpG岛和转录因子结合位点的影响。结果显示，BMPR-ⅠB基因启动子区存在4个SNPs位点：g.29893005 T > C、g.29893016 C > T、g.29893729 C > G和g.29894370 C > T。生物信息学软件预测得到BMPR-ⅠB基因核心启动子区和CpG岛，SNPs位点导致转录因子结合位点发生改变，g.29893005 T > C和g.29893016 C > T突变使原来的转录因子结合位点Sp1消失；g.29893729 C > G突变使原来转录因子结合位点AP-1消失，从而产生新的转录因子结合位点USF；g.29894370 C > T突变产生新的转录因子结合位点C/EBPalp，使原来的转录因子结合位点Sp1改变为C/EBPalp和Sp1。由此推测，SNPs位点对调控启动子功能元件可能存在重要影响。

关键词: 贵州地方山羊; BMPR-ⅠB基因; 启动子; 生物信息学

Abstract: In order to explore the polymorphism of bone morphogenetic protein receptor ⅠB (BMPR-ⅠB) gene promoter region and its correlation with reproductive traits,three Guizhou local goats,including Qianbei Ma goats,Guizhou Black goats and Guizhou White goats were selected as experimental materials.SNPs were screened by constructing a mixed DNA pool combined with PCR product direct sequencing technology,and various bioinformatics software were used to predict the effects of SNPs on the core promoter region,CpG island and transcription factor binding sites.The results showed that there were 4 SNPs in the promoter region of BMPR-ⅠB gene,which were g.29893005 T > C,g.29893016 C > T,g.29893729 C > G and g.29894370 C > T.The bioinformatics software predicted the core promoter region and CpG island of BMPR-ⅠB gene,and the SNPs site caused the transcription factor binding site to change.The g.29893005 T > C and g.29893016 C > T mutations caused the original transcription factors site binding Sp1 to disappear,g.29893729 C > G mutation caused the original transcription factor binding site AP-1 to disappear,resulting in a new transcription factor binding site USF.g.29894370 C > T mutation produced a new transcription factor binding site C/EBPalp changed the original transcription factor binding site Sp1 to C/EBPalp and Sp1.It was speculated that SNPs might have important effects on regulatory promoter functional elements.

Key words: Guizhou local goats; BMPR-ⅠB gene; promoter; bioinformatics

中图分类号:

S813.3

艾锦新, 龙安炬, 罗卫星, 蔡惠芬. 贵州地方山羊BMPR-ⅠB基因启动子区多态性及生物信息学分析[J]. 中国畜牧兽医, 2020, 47(4): 1000-1008.

AI Jinxin, LONG Anju, LUO Weixing, CAI Huifen. Polymorphism and Bioinformatics Analysis of BMPR-ⅠB Gene Promoter Region in Guizhou Local Goats[J]. China Animal Husbandry and Veterinary Medicine, 2020, 47(4): 1000-1008.

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