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潘金春,闵凡贵,王希龙.五指山小型猪PPARγ2 基因启动子多态性分析[J].中国比较医学杂志,2018,28(9):21~26.
五指山小型猪PPARγ2 基因启动子多态性分析
Analysis of polymorphisms in the promoter region of the PPARγ2 gene in Wuzhishan minipigs
投稿时间:2018-03-30  
DOI:10.3969/j. issn. 1671 -7856. 2018. 09. 004
中文关键词:  五指山小型猪  PPARγ2  启动子  单核苷酸多态性  生物信息学
英文关键词:Wuzhishan minipig(WZSP)  PPARγ2  promoter  single?nucleotide polymorphism(SNP)  bioinformatics
基金项目:广东省科技计划项目(编号:2017B030314171,2017A070702001);广州市科技计划项目(编号:201707010376)
作者单位E-mail
潘金春 1. 广东省实验动物监测所,广州 510663
2. 广东省实验动物重点实验室,广州 510663 
jcpan@ sina. com 
闵凡贵 1. 广东省实验动物监测所,广州 510663
2. 广东省实验动物重点实验室,广州 510663 
 
王希龙 1. 广东省实验动物监测所,广州 510663
2. 广东省实验动物重点实验室,广州 510663 
hnxsswxl@ yahoo. com. cn 
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中文摘要:
      目的 对五指山小型猪PPARγ2 基因启动子调控区域多态性进行分析?方法 根据猪PPARγ2 启动子调控区域2200 bp 设计5 对引物,对57 头封闭群五指山小型猪的多态性进行检测,并用多种生物信息学软件对调控区域的启动子?转录因子结合位点?RNA 二级结构?CpG 岛进行预测分析?结果 筛选到9 个单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点,分别是: - 1595T/ C?- 1534G/ A?- 1262C/ A?- 1220C/ A?- 1017A/G?-963A/ G?-955G/ A?- 866A/ G?- 333G/ A?SNPs 都没有处在软件识别的启动子区域中,但- 333G/ A 突变位于核心启动子( -656 ~ -23 bp)区域?突变的SNP 位点附近转录因子结合位点会发生改变,突变前后RNA 二级结构最小自由能发生变化,其结构也发生显著变化?目标序列未找到CpG 岛?结论 筛选到的五指山小型猪PPARγ2 启动子调控区域SNPs 可能对该基因的表达调控产生影响,为进一步研究其功能奠定基础?
英文摘要:
      Objective To screen the polymorphisms of the promoter regulatory region of the PPARγ2 gene in Wuzhishan minipigs. Methods Five pairs of primers were designed based on the promoter regulatory region of the PPARγ2 gene in pigs. Then, the polymorphisms of 57 outbred Wuzhishan minipigs were detected; moreover, the promoters, transcription factor?binding sites, and secondary structures of RNA and CpG islands of the regulatory region were predicted and analyzed by various types of bioinformatic software. Results Nine single?nucleotide polymorphisms (SNPs) were found, which were - 1595T/ C, - 1534G/ A, - 1262C/ A, - 1220C/ A, - 1017A/ G, - 963A/ G, -955G/ A, -866A/ G, and - 333G/ A. SNPs were not located in the region of promoters that were identified by the software, but the -333G/ A mutation was located in the core promoter region ( - 656 to - 23 bp). Transcription factor?binding sites were altered near the mutational locus. The minimum free energy of secondary structures of RNA was changed and the structure of RNA was significantly altered. CpG islands were not found in the target sequence. Conclusions The screened SNPs of the promoter region of the PPARγ2 gene in Wuzhishan minipigs may affect regulation of the expression of this gene, which lays the foundation for further study of its function.
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