上海交通大学学报（医学版）

上海交通大学学报（医学版）

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哺乳动物可变启动子的功能及其与疾病的关系

聂永强，马晴雯   

  1. 上海交通大学附属儿童医院，上海市儿童医院，上海交通大学医学遗传研究所，卫生部医学胚胎分子生物学重点实验室暨上海市胚胎与生殖工程重点实验室，上海 200040
  • 出版日期:2017-04-28 发布日期:2017-05-04
  • 通讯作者: 马晴雯，电子信箱：maqingwen@hotmail.com。
  • 作者简介:聂永强（1989—），男，硕士生；电子信箱：nie_yq@126.com。
  • 基金资助:

    国家重点研发计划项目（2016YFC1000503）

Function of mammalian alternative promoter and its relationship with disease

NIE Yong-qiang, MA Qing-wen   

  1. The Ministry of Health Key Laboratory of Medical Embryo Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai Institute of Medical Genetics, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Shanghai 200040, China
  • Online:2017-04-28 Published:2017-05-04
  • Supported by:

    National Key Research and Development Program of China, 2016YFC1000503

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摘要：

可变启动子是一个基因的转录本起始端所对应的可变区域，可变启动子的使用产生了多样化的细胞类型、组织类型以及复杂的发育基因的调节。在各类疾病的发生和发展过程中，可变启动子的异常使用起着重要的作用。可变启动子作为一个通用的机制在基因表达调节中表现得既多样又灵活。该文结合最近发表的相关研究来综述哺乳动物可变启动子的使用所带来的功能，并讨论可变启动子与疾病发生之间的关系。

关键词: 可变启动子, 基因调节, 转录, 疾病

Abstract:

An alternative promoter is a variable region corresponding to initiating transcription of a gene. The use of alternative promoters has led to the diversification of cell types and tissue types and the regulation of complex developmental genes. Aberrant use of alternative promoters plays an important role in the incidence and development of various diseases. As a common mechanism, alternative promoters are versatile and flexible during gene expression regulation. This paper reviewed functional effects of using mammalian alternative promoters, as well as the relationship between alternative promoters and the incidence of diseases based on the latest published studies.

Key words: alternative promoter, gene regulation, transcription, disease