生物技术通报 ›› 2013, Vol. 0 ›› Issue (6): 104-109.

• 研究报告 • 上一篇    下一篇

JAK2基因启动子区多态及生物信息学研究

龚俞1, 杨永强2, 焦仁刚1, 惠嫣婷2, 刘若余2   

  1. (1.贵州省畜牧技术推广站, 贵阳 550001;2.贵州大学动物科学学院 高原山地动物遗传育种与繁殖教育部重点实验室贵州省动物遗传育种与繁殖重点实验室, 贵阳 550025)
  • 收稿日期:2013-06-20 修回日期:2013-06-20 出版日期:2013-06-20 发布日期:2013-06-20
  • 作者简介:龚俞, 男, 硕士, 畜牧师, 研究方向: 动物遗传育种与繁殖;E-mail: yituo-28@163.com
  • 基金资助:
    贵州省重大科技专项计划项目

Study on the SNP and Bioinformatics of Promoter Region of JAK2 Gene in Cattle

Gong Yu1 Yang Yongqiang2 Jiao Rengang1 Hui Yanting2 Liu Ruoyu2   

  1. (1. Animal Science and Technology Station of Guizhou, Guiyang 550001;2. College of Animal Sciences, Guizhou University, Key Laboratory of Animal Genetics, Breeding and Reproduction in the Plateau Mountainous Region, Ministry of Education, Guizhou Key Laboratory of Animal Genetics, Breeding and Reproduction, Guiyang 550025)
  • Received:2013-06-20 Revised:2013-06-20 Published:2013-06-20 Online:2013-06-20

摘要: 为筛选JAK2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, JAK2基因5'调控区及第1外显子存在2个SNPs位点, 分别为G+5A、G+104A。生物信息学软件预测得到JAK2基因核心启动子区, SNP位点导致9个转录因子结合位点消失, 而产生1个新的转录因子结合位点。G+5A对转录因子结合位点、RNA二级结构和CpG岛均有显著影响。

关键词: JAK2, SNP, 启动子, 贵州荷斯坦奶牛, 务川黑牛

Abstract: In order to screen the polymorphisms of JAK2 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. Results showed that 2 single nucleotide polymorphisms(SNPs)were found in the 5' flanking region and part of exon 1 which included G+5A and G+104A. Furthermore, bioinformatics tools were used to predict the core region of the promoter. It demonstrated that 1 new transcription factors binding sites emerged while 9 previous transcription factors binding sites disappeared based on the SNPs found in this study, and it also showed that SNP of G+5A could change the secondary structure of RNA, transcription factors binding sites and range of CpG island dramatically by using various softwares.

Key words: JAK2, SNP, Promoter, Guizhou Holstein cow, Wuchuan black cattle