遗传 ›› 2020, Vol. 42 ›› Issue (9): 817-831.doi: 10.16288/j.yczz.20-097

• 综述 •    下一篇

增强子的鉴定及其在肿瘤研究中的应用

刘倩1, 李春燕1,2()   

  1. 1. 北京航空航天大学,大数据精准医疗高精尖创新中心和医学科学与工程学院,北京 100191
    2. 工业和信息化部大数据精准医疗重点实验室(北京航空航天大学),北京 100191;
  • 收稿日期:2020-04-09 修回日期:2020-07-23 出版日期:2020-09-20 发布日期:2020-08-04
  • 通讯作者: 李春燕 E-mail:lichunyan@buaa.edu.cn
  • 作者简介:刘倩,在读硕士研究生,专业方向:生物医学工程。E-mail: ZY1910219@buaa.edu.cn
  • 基金资助:
    国家自然科学基金青年科学基金项目资助编号:(31801094)

The identification of enhancers and its application in cancer studies

Liu Qian1, Li Chunyan1,2()   

  1. 1. Beijing Advanced Innovation Center for Big Data-Based Precision Medicine & School of Medical Sciences and Engineering, Beihang University, Beijing 100191, China;
    2. Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing 100191, China;
  • Received:2020-04-09 Revised:2020-07-23 Online:2020-09-20 Published:2020-08-04
  • Contact: Li Chunyan E-mail:lichunyan@buaa.edu.cn
  • Supported by:
    Supported by the National Natural Science Foundation of China No(31801094)

摘要:

增强子是一类增强靶基因转录活性的DNA顺式作用元件。但是增强子与靶基因的方向和距离不确定,大大增加了研究增强子调控的靶基因及其作用机制的困难。已有大量研究显示,增强子的突变或功能异常与疾病发生发展相关;仅有少量研究报道增强子通过促进靶基因的表达,引发癌症或产生抗药性。目前与癌症发生发展和在癌症治疗过程中抗药性产生相关的增强子尚未得到充分鉴定,这些增强子的调控机制也未得到充分解析。本文对目前可在全基因组水平上预测和鉴定增强子以及解析增强子调控机制的方法进行总结和对比,并对近几年增强子在肿瘤诊断、治疗和发生发展机制中的研究进展进行综述。期望本文为筛选与癌症发生发展相关的增强子和解析这些增强子的调控机制提供参考,为提高癌症的诊断和制定癌症的治疗策略提供新的视角。

关键词: 增强子, 超级增强子, 鉴定, 肿瘤

Abstract:

Enhancers are a type of cis-acting DNA elements that enhance transcriptional activity of target genes. However, the uncertainty in the orientation and distance between enhancers and target genes could post significant difficulties in identifying the target genes and the regulatory mechanisms of the enhancers. Numerous studies have shown that the mutations and/or abnormalities in the functions of enhancers are associated with development of diseases. A few studies have reported that enhancers could activate cancer development or drug resistance by promoting the expression of target genes. At present, enhancers involved in carcinogenesis and drug resistance have not been fully identified, and the underlying mechanism are still largely unknown. This paper summarizes the main methods used in identifying and characterizing enhancers and analyzing the regulatory mechanism at the genome-wide level. It further reviews the recent research progress of enhancers in cancer diagnosis, treatment, and the underlying mechanism during carcinogenesis, thereby providing a reference for the screening of these enhancers involved in carcinogenesis and drug resistance and exploring their regulatory mechanisms of target genes. It also provides a new perspective for improving the diagnosis of cancer and insights for formulating cancer therapeutic strategies.

Key words: enhancer, super enhancer, identification, cancer