超级增强子的发现与研究进展

Research Progess of Super Enhancers

超级增强子(super enhancers,SEs)是一种由连续排列的调控元件串联形成的超长增强子,可以强力驱动细胞相关基因的表达,细胞中的数百个SEs控制着关键基因,决定细胞命运走向。在肿瘤发生、老年痴呆、糖尿病及许多自身免疫疾病中,均发现致病基因的表达与部分超级增强子的异常活化高度相关。现概述SEs的发现历程与基本概念,阐明超级增强子的鉴定方法,并介绍目前SEs的相关数据库。随后对SEs在胚胎干细胞、多系统恶性肿瘤、免疫相关性疾病中的研究进展进行综述,并对其在妇科疾病临床治疗中的应用前景进行展望。

Super enhancers （ SEs） are composed by consecutive regulatory elements in series, which is actually an extraordinary long cluster of transcriptional enhancers. SEs manipulate the expressions of relevant genes, and hundreds of SEs control the cellular destiny by regulating key genes. Recent studies showed that the expression of pathogenic genes were highly related to the aberrant activation of SEs, in malignancies, Alzheimer’ s disease, diabetes and many autoimmune diseases. In this paper, we reviewed the discovery of SEs, the method to identify SEs, and databases related to SEs. We also summarizd the recent progress of SEs involving in embryonic stem cells, malignancies tumor and immune-related diseases, as well as the potential application in gynecological diseases.