PJ综合征疾病基因STK11/LKB1转录调控的生物信息学分析  

Bioinformatics Analysis of the Transcriptional Regulation of Peutz-Jeghers Syndrome Gene STK11/LKB1

作　　者：王永俊[1] 施小六[1] 姚茂金[1] 宁文锋[1] 周世权[1] 莫烨[1] 汤建光[2] 

机构地区：[1]中南大学湘雅二医院消化内科,湖南长沙410011 [2]中南大学湘雅二医院神经内科,湖南长沙410011

出　　处：《中国医师杂志》2005年第2期145-147,共3页Journal of Chinese Physician

基　　金：国家自然科学基金资助项目 (30 4 0 0 537)

摘　　要：目的　初步了解STK11/LKB1的转录起始位点信息 ,分析其可能的候选启动子区段 ,为以后进行STK11/LKB1的转录调控研究作准备。方法　通过检索网上数据库资料 ,获得STK11/LKB1的转录本信息 ;运用MethPrimer和FirstEF两种程序 ,对包含STK11/LKB1基因“第一外显子”、“第一内含子”及其 5’UTR区上游的gDNA片段序列 ,分别进行CpG岛分析和第一外显子预测 ;利用PromoterInspector等预测程序 ,对STK11/LKB1的启动子进行预测。结果　目前已知的STK11/LKB1转录本中 ,5’UTR区最长的序列为BC0 0 7981(GenBank登录号 ) ;STK11/LKB1基因属于典型的CpG岛相关基因 ,现有的“第一外显子”之 5’上游已不再有外显子 ,已有的 5’UTR区基本已基本接近STK11/LKB1的转录起始位点 ;在BC0 0 7981的 5’上游约 2 0 0bp到 40 0bp内很可能存在有启动子。结论　STK11/LKB1已有的 5’UTR区基本已基本接近STK11/LKB1的转录起始位点 ,在BC0 0 7981的 5’上游数百bp内很可能能找到具有启动活性的区段从而有利于进行下一步的转录调控研究。实验明确其真实的转录起始位点应已相对容易。Objective To map the approximate transcription initiation site of STK11/LKB1 and identify its potential promoter region. Methods All reported transcripts of STK11/LKB1 were colllected through searching online database. The “first exon”, “first intron” and 5' UTR upstream gDNA sequence of STK11/LKB1 were analysed by MethPrimer and FiretEF to predict the CpG island and possible transcription initiation site, respectively. The STK11/LKB1 gDNA sequence was also analysed by softwares such as PromoterInspector to predict the probable promoter region. Results Among all the reported transcripts of STK11/LKB1, 5'UTR of BC007981 was the longest. STK11/LKB1 gene was a typical CpG island associated gene. There was no exon in the upstream region of the “first exon”, and 5'UTR in BC007981 was close to transcription initiation site. Promoters were predicted in the BC007981 5' upstream 200～400bp region. Conclusion The 5'UTR of STK11/LKB1 approaches the transcription initiation site. The transcription initiation site of STK11/LKB1 gene in several hundreds bp region of 5'UTR upstream may be indentified. The data will benefit further research on the trascriptional regulation of STK11/LKB1 through experimental methods.

关 键 词：LKB1 第一外显子 转录调控 疾病基因 生物信息学分析 综合征 CpG岛 启动子 内含子 DNA片段 

分 类 号：R596[医药卫生—内科学]