Department of Medicine, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229.
Center for Genomic Integrity, Institute for Basic Science, Ulsan 689-798, Republic of Korea.
Proc Natl Acad Sci U S A. 2019 Aug 27;116(35):17438-17443. doi: 10.1073/pnas.1903150116. Epub 2019 Aug 8.
Defects in DNA repair give rise to genomic instability, leading to neoplasia. Cancer cells defective in one DNA repair pathway can become reliant on remaining repair pathways for survival and proliferation. This attribute of cancer cells can be exploited therapeutically, by inhibiting the remaining repair pathway, a process termed synthetic lethality. This process underlies the mechanism of the Poly-ADP ribose polymerase-1 (PARP1) inhibitors in clinical use, which target BRCA1 deficient cancers, which is indispensable for homologous recombination (HR) DNA repair. HR is the major repair pathway for stressed replication forks, but when BRCA1 is deficient, stressed forks are repaired by back-up pathways such as alternative nonhomologous end-joining (aNHEJ). Unlike HR, aNHEJ is nonconservative, and can mediate chromosomal translocations. In this study we have found that miR223-3p decreases expression of PARP1, CtIP, and Pso4, each of which are aNHEJ components. In most cells, high levels of microRNA (miR) 223-3p repress aNHEJ, decreasing the risk of chromosomal translocations. Deletion of the miR223 locus in mice increases PARP1 levels in hematopoietic cells and enhances their risk of unprovoked chromosomal translocations. We also discovered that cancer cells deficient in BRCA1 or its obligate partner BRCA1-Associated Protein-1 (BAP1) routinely repress miR223-3p to permit repair of stressed replication forks via aNHEJ. Reconstituting the expression of miR223-3p in BRCA1- and BAP1-deficient cancer cells results in reduced repair of stressed replication forks and synthetic lethality. Thus, miR223-3p is a negative regulator of the aNHEJ DNA repair and represents a therapeutic pathway for BRCA1- or BAP1-deficient cancers.
DNA 修复缺陷会导致基因组不稳定,进而引发肿瘤。在一条 DNA 修复途径有缺陷的癌细胞可能会依赖于其他剩余的修复途径来生存和增殖。癌细胞的这种特性可以被治疗性地利用,通过抑制剩余的修复途径,这一过程被称为合成致死。这种过程是聚 ADP 核糖聚合酶 1(PARP1)抑制剂在临床上的作用机制,这些抑制剂针对的是 BRCA1 缺陷型癌症,这种蛋白对于同源重组(HR)DNA 修复是必不可少的。HR 是有压力的复制叉的主要修复途径,但当 BRCA1 缺失时,有压力的叉会被备用途径修复,如替代性非同源末端连接(aNHEJ)。与 HR 不同,aNHEJ 是非保守的,并且可以介导染色体易位。在这项研究中,我们发现 miR223-3p 降低了 PARP1、CtIP 和 Pso4 的表达,它们都是 aNHEJ 的组成部分。在大多数细胞中,高水平的 microRNA(miR)223-3p 抑制 aNHEJ,降低了染色体易位的风险。在小鼠中删除 miR223 基因座会增加造血细胞中的 PARP1 水平,并增加它们发生无端染色体易位的风险。我们还发现,BRCA1 或其必需伴侣 BRCA1 相关蛋白 1(BAP1)缺失的癌细胞通常会抑制 miR223-3p,以允许通过 aNHEJ 修复有压力的复制叉。在 BRCA1 和 BAP1 缺失的癌细胞中重建 miR223-3p 的表达会导致有压力的复制叉修复减少和合成致死。因此,miR223-3p 是 aNHEJ DNA 修复的负调节剂,是 BRCA1 或 BAP1 缺失型癌症的治疗途径。