人类基因组上CpG岛的定位和系统分析  

Identification and systematic analysis of CpG island in the human genome

作　　者：屠鞠传礼 王建军[3] 

机构地区：[1]中国科学院北京基因组研究所,北京100029 [2]中国科学院研究生院,北京100049 [3]中国科学院微生物研究所,北京100101

出　　处：《生物信息学》2010年第3期254-257,262,共5页Chinese Journal of Bioinformatics

基　　金：教育部创新团队发展计划项目(IRT0453)

摘　　要：为了研究CpG岛产生和消失机制以及位于基因启动子区域外的CpG岛保守性等问题,我们通过序列比对和进化保守性分析等方法,分析在人类和小鼠中保守的基因上的CpG岛。结果显示已有保守序列的突变以及序列插入删除是CpG岛产生和消失的主要原因,进一步分析发现52%的在小鼠基因组上保守序列完全缺失的CpG岛位于两个转座子之间,提示转座子所介导的序列插入是CpG岛形成和消失的重要原因。人类基因组上在启动子区域外的CpG岛中约有79%为新产生的CpG岛,显著高于启动子区域内新产生的CpG岛比例(41%)。GO分析表明与这些CpG岛相关的部分基因与神经系统发育显著相关,提示新产生的CpG岛参与神经发育过程。In oder to study the gain and loss of CpG island and the conservation of CpG island located beyond the promoter region,Here we conduct a systematic sequence alignment and evolutionary analysis to explore CpG island located in conservational gene region in both the human and mouse genome.The results indicate that mutation of original sequence combined with insertion and deletion（indel） are major results of dynamic change of CpG island.Then we investigate the role of transposor in indel of CpG island,the results show 52% CpG island which have no conservational sequences in the mouse genome are located between two transposons,It is an important mechanism of CpG island.79% CpG islands distributed out of promoter region are newly evolved,GO analysis indicate genes related to CpG island located beyond the promoter region are highly correlated with neural development.The results indicate newly evolved CpG island could involved in neural development.

关 键 词：CPG岛 进化保守分析 CpG岛起源 转座子 

分 类 号：Q811.462[生物学—生物工程]