人类基因组中巢式基因对的系统分析.pdfVIP

HEREDITAS (Beijing) 2010 9 , 32(9): 914 ―920 ISSN 0253-9772 研究报告 DOI: 10.3724/SP.J.1005.2010.00914 人类基因组中巢式基因对的系统分析 1, 2 1 1 屠鞠传礼 , 吕贯廷 , 曾长青 1. , 100029; 2. , 100039 基因组上一个基因的所有或大部分外显子位于另一基因内含子和UTR 中被称为巢式基因(Nested gene) 。 巢式基因对(Nested gene pair)是由主基因(Host gene)和巢式基因组成的基因对。文章针对人类基因组上的顺式巢 式基因对(简称为巢式基因对)进行全基因组鉴定, 并通过比较巢式基因对在人和小鼠基因组上的保守性分布, 研究巢式基因对的进化方式。保守性分析表明基因转座、序列原位突变和主基因转录起始/终止位点突变是巢 式基因对进化的主要原因, 其中主基因转录起始/终止位点突变是巢式基因对独特的一种进化方式。Gene On- tology 分析揭示大部分巢式基因与主基因的产物在功能上没有相关性。 巢式基因对; 巢式基因; 主基因; 进化机制 Systematic analysis of cis-nested gene pairs in the human genome 1, 2 1 1 TUJU Chuan-Li , LÜ Guan-Ting , ZENG Chang-Qing 1. Beijing Genomics Institute, Chinese Academy of Sciences, Beijing 100029, China; 2. Graduate University of Chinese Academy of Sciences, Beijing 100039, China Abstract: In the genome one gene, whose entire or the most part of the sequence localizes in an intronic or UTR region of another larger gene, is called nested gene. A nested gene pair consists of a host and a nested gene. Here, we conducted a systematic scanning and analysis to identify all cis-nested gene pairs and their structural features in the human genome. Meanwhile, we also explored possible mechanism for evolution of nested gene and the relationship between the host and the cis-nested gene (denoted as nested gene in short). Our analysis indicated that evolution of nested gene pair probably arose from the transposition, de novo mutation, and the mutations occurred in transcription start or termination sites. The change in transcription starting or ending site could be a unique mechanism driving evolution of nested gene pair. Gene Ontology analysis indicated the gene products of