逆转录转座子LINE-1与肿瘤的发生和发展逆转录转座子LINE-1与肿瘤的发生和发展.pdf

Hereditas (Beijing) 2016 年2 月, 38(2): 93 ―102 综 述 逆转录转座子LINE-1 与肿瘤的发生和发展 1 2 1 1 刘茜 ，王瑾晖 ，李晓宇 ，岑山 1. 中国医学科学院北京协和医学院 医药生物技术研究所免疫生物学室，北京 100050； 2. 中国医学科学院北京协和医学院 北京协和医院妇产科，北京 100730 摘要:LINE- 1 是现今人体内存在的唯一具有自主转座活性的转座子，约有500 000 个拷贝，占人类基因组总量 的17%。LINE- 1 是通过转录和逆转录在内的转座过程产生新的DNA 拷贝，并使新产生的DNA 拷贝插入基因 组的不同位置。LINE- 1 转座会影响基因组中其他基因的表达或调控，因而会对基因组的稳定性产生影响，从 而导致基因疾病或肿瘤的发生。本文总结了近年来国际上对LINE- 1 转座与肿瘤的发生和发展之间关系的研究 进展，为肿瘤的治疗和机制研究提供一些线索。 关键词:转座；逆转录转座子；基因组；LINE- 1；肿瘤；基因稳定性；逆转录酶 The connection between LINE-1 retrotransposition and human tumorigenesis 1 2 1 1 Qian Liu , Jinhui Wang , Xiaoyu Li , Shan Cen 1. Department of Immunology, Institute of Medicinal Biotechnology, Chinese academy of Medical Sciences Peking Union Med i- cal College, Beijing 100050, China; 2. Peking Union Medical College Hospital, Chinese A cademy of Medical Sciences Peking Union Medical College, Beijing 100730, China Abstract: LINE- 1 is the only currently known active autonomous transposon in humans with an estimated 500 000 copies representing 17% of the human genome. LINE- 1 propagates itself through a process called retrotransposi- tion, which includes transcription and reverstranscription, to produce new DNA copies. The new produced DNA copies can integrate into new genomic loci. The insertion of LINE- 1 is able to cause genetic instability by af- fecting the expression or regulation of the nearby genes, thus causing dozens of genetic diseases or tumors. In this review, we summarize the recent research progress on the connection between LINE- 1 retrotransposition and human tumorigenesis, which might shed light on the biology mechanisms and treatment of the tumorigenesis. Keywords: transposition; retrotransp