生物学杂志

生物学杂志 ›› 2022, Vol. 39 ›› Issue (2): 90-.doi: 10.3969/j.issn.2095-1736.2022.02.090

• 综述与专论 • 上一篇    下一篇

BRCA1在同源重组修复中的作用

  

  1. 浙江大学 医学院， 杭州 310000
  • 出版日期:2022-04-18 发布日期:2022-04-18
  • 通讯作者: 杨小杭，博士，教授，研究方向为遗传学，E-mail：xhyang@zju.edu.cn
  • 作者简介:赵音珺，在读硕士生，研究方向为遗传学与DNA损伤修复，E-mail：zhaoyinjun@zju.edu.cn
  • 基金资助:
    国家重点专项“辅助生殖的遗传安全性研究”（2018YFC1004900）

The role of BRCA1 in homologous recombination

  1. School of Medicine, Zhejiang University, Hangzhou 310000, China
  • Online:2022-04-18 Published:2022-04-18

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摘要： 在综述同源重组（homologous recombination, HR）修复途径的过程及其产物的基础上，重点介绍BRCA1蛋白结构及其在HR修复途径中的2个主要功能：一是促进DNA末端切除，二是介导重组酶RAD51在DSB位点处的装载。指出乳腺癌和卵巢癌相关基因BRCA1所表达的蛋白参与DNA损伤修复，在HR修复途径中发挥重要作用。最后介绍了近年来Brca1基因突变小鼠的胚胎发育与挽救的相关研究进展。

关键词: BRCA1, HR, DNA损伤修复, DNA双链断裂, 胚胎发育

Abstract: On the basis of reviewing the process and products of homologous recombination (HR) repair pathway, this paper focused on the structure of BRCA1 protein and its two main functions in HR repair pathway: one is to promote DNA end resection, the other is to mediate the loading of the recombinase RAD51 at the DSB site. It was pointed out that the protein expressed by the breast and ovarian cancer-related gene BRCA1 was involved in DNA damage repair and played an important role in the HR repair pathway. Finally, the research progress of embryonic development and rescue of Brca1 mutant mice in recent years was introduced.

Key words: BRCA1, homologous recombination, DNA damage repair, DNA double-strand break, embryonic development

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