CRISPR/Cas基因编辑技术在增强子功能分析及鉴定中的研究进展*

增强子是生物体内重要的顺式基因表达调控元件,参与众多生物学过程,与癌症的发生发展及多种疾病的产生紧密相关。虽然基于生物信息学的方法可以对增强子进行鉴定和筛选,然而由于增强子与靶基因的位置和方向不确定,大大增加了深入研究增强子调控机制的难度。近年来,CRISPR/Cas技术的不断发展创新,为揭示和验证增强子的分子机制提供了可操作性。因此,在系统回顾CRISPR/Cas技术的发展过程及在生物学中的应用基础上,重点总结近年来CRISPR/Cas技术在增强子研究中的创新应用,包括不同CRISPR/Cas技术的作用原理及CRISPR/Cas技术如何编辑增强子等,以期为利用CRISPR/Cas技术研究增强子功能机制提供可行性参考。

Research Progress of CRISPR/Cas Gene Editing Technology in Enhancer Function Analysis and Identification

Enhancers are essential cis-regulatory DNA elements, which are involved in many biological processes and closely associated with the initiation and progression of cancer and various human diseases. Although bioinformatics-based methods can identify and screen enhancers, the uncertainty in the orientation and distance between enhancers and target genes makes it difficult to study the functional mechanism of enhancers in-depth. Recently, the continuous development and innovation of CRISPR/Cas technology makes it applicable to the investigation and validation on the molecular mechanisms of enhancers. This article reviews the progression of CRISPR/Cas technology and its application in biology and focuses on the innovative applications of CRISPR/Cas technology in enhancer research in recent years (e.g., how CRISPR/Cas technology edits enhancers and the principles of different CRISPR/Cas technologies), aiming to provide a feasible reference for further study on the enhancer functional analysis.