碱基编辑系统及其在构建多点突变模型中的潜在应用  

Base editor and its potential application in constructing multipoint mutation model

作　　者：陶皖豫 黄行许 TAO Wanyu;HUANG Xingxu(School of Life Science and Technology,ShanghaiTech University,Shanghai 201210,China)

机构地区：[1]上海科技大学生命科学与技术学院,上海201210

出　　处：《生命的化学》2020年第11期1917-1923,共7页Chemistry of Life

摘　　要：DNA的点突变是遗传性疾病中最常见的突变形式,因此精确的点突变技术将有助于研究由基因突变导致的疾病模型及其致病机制。基于CRISPR/Cas9基因编辑系统的碱基编辑系统可实现胞嘧啶到胸腺嘧啶(C→T)或腺嘌呤到鸟嘌呤(A→G)的高效突变。与传统的同源重组方法比较,CRISPR/Cas9基因编辑系统在效率和精确方面具有优势,目前已在植物、动物和人胚胎实现高效精准的碱基编辑。通过多条sgRNA,碱基编辑系统可实现多位点同时编辑,为模拟临床疾病多点突变提供了很好的工具。本文回顾了碱基编辑系统的发展,并对其应用做了展望,旨在为疾病模型的构建提供参考。Point mutation is the main form of genetic disease,thus the precise point mutation technique will help to understand disease modeling caused by gene mutation and its pathogenesis.Recently,developed base editor(BE)based on CRISPR/Cas9 gene editing system achieved cytosine-to-thymine(C→T)mutation and adenine-to-guanine(A→G)mutation.Compared with the traditional homologous recombination method,BE has advantages in terms of efficiency and precision and has been applied in plants,animals and even human embryos.Through multiple sgRNAs,BE can achieve simultaneous multiplex genome editing,providing a very excellent tool to simulate multipoint mutation in clinical disease.Here,we reviewed the development of base editor,and discussed the prospect of its applications,which offered the guidance for disease modeling.

关 键 词：碱基编辑系统 多点突变 疾病模型 

分 类 号：R596[医药卫生—内科学]