人类基因组中的保守非编码元件  

Conserved non-coding elements in human genome

作　　者：田靖[1] 赵志虎[1] 陈惠鹏[1] 

机构地区：[1]军事医学科学院生物工程研究所,北京100071

出　　处：《遗传》2009年第11期1067-1076,共10页Hereditas（Beijing)

摘　　要：比较基因组学的研究发现:人类基因组中约5%的序列受到选择压力的限制,但编码序列只占其中很小一部分,约3.5%是保守、非编码序列。这些保守非编码元件具有重要功能。可能在染色质构型(高级结构)、DNA转录和RNA加工等不同水平参与了基因的表达调控,与哺乳动物的形态发生和人类疾病相关。文章简要综述了保守非编码元件的识别、功能及验证、起源演化以及与人类疾病的关系。Study of comparative genomics has revealed that about 5%of the human genome are under purifying selection, 3.5%of which are conserved non-coding elements（CNEs）.While the coding regions comprise of only a small part.In human,the CNEs are functionally important,which may be associated with the process of the establishment and maintain of chromatin architecture,transcription regulation,and pre-mRNA processing.They are also related to ontogeny of mammals and human diseases.This review outlined the identification,functional significance, evolutionary origin, and effects on human genetic defects of the CNEs.

关 键 词：保守非编码元件 比较基因组学 基因调节 

分 类 号：Q987[生物学—遗传学]