Laboratory of Molecular Gerontology, National Institute on Aging, NIH, Baltimore, MD, USA.
Department of Cancer Biology, University of Massachusetts Medical School - UMASS Memorial Cancer Center, Worcester, MA, USA.
Nucleic Acids Res. 2020 Sep 18;48(16):9161-9180. doi: 10.1093/nar/gkaa660.
FANCJ, a DNA helicase and interacting partner of the tumor suppressor BRCA1, is crucial for the repair of DNA interstrand crosslinks (ICL), a highly toxic lesion that leads to chromosomal instability and perturbs normal transcription. In diploid cells, FANCJ is believed to operate in homologous recombination (HR) repair of DNA double-strand breaks (DSB); however, its precise role and molecular mechanism is poorly understood. Moreover, compensatory mechanisms of ICL resistance when FANCJ is deficient have not been explored. In this work, we conducted a siRNA screen to identify genes of the DNA damage response/DNA repair regime that when acutely depleted sensitize FANCJ CRISPR knockout cells to a low concentration of the DNA cross-linking agent mitomycin C (MMC). One of the top hits from the screen was RAP80, a protein that recruits repair machinery to broken DNA ends and regulates DNA end-processing. Concomitant loss of FANCJ and RAP80 not only accentuates DNA damage levels in human cells but also adversely affects the cell cycle checkpoint, resulting in profound chromosomal instability. Genetic complementation experiments demonstrated that both FANCJ's catalytic activity and interaction with BRCA1 are important for ICL resistance when RAP80 is deficient. The elevated RPA and RAD51 foci in cells co-deficient of FANCJ and RAP80 exposed to MMC are attributed to single-stranded DNA created by Mre11 and CtIP nucleases. Altogether, our cell-based findings together with biochemical studies suggest a critical function of FANCJ to suppress incompletely processed and toxic joint DNA molecules during repair of ICL-induced DNA damage.
FANCJ 是一种 DNA 解旋酶,也是肿瘤抑制因子 BRCA1 的相互作用伙伴,对于 DNA 链间交联(ICL)的修复至关重要,ICL 是一种高度毒性的损伤,可导致染色体不稳定并扰乱正常转录。在二倍体细胞中,FANCJ 被认为参与 DNA 双链断裂(DSB)的同源重组(HR)修复;然而,其确切作用和分子机制尚不清楚。此外,当 FANCJ 缺失时,对 ICL 耐药的补偿机制尚未得到探索。在这项工作中,我们进行了 siRNA 筛选,以鉴定 DNA 损伤反应/DNA 修复途径中的基因,这些基因在急性消耗时会使 FANCJ CRISPR 敲除细胞对低浓度 DNA 交联剂丝裂霉素 C(MMC)敏感。该筛选的一个主要命中是 RAP80,这是一种将修复机制募集到断裂 DNA 末端并调节 DNA 末端处理的蛋白质。FANCJ 和 RAP80 的同时缺失不仅加剧了人细胞中的 DNA 损伤水平,而且还对细胞周期检查点产生不利影响,导致严重的染色体不稳定。遗传互补实验表明,当 RAP80 缺失时,FANCJ 的催化活性及其与 BRCA1 的相互作用对于 ICL 耐药都很重要。在 MMC 处理下,FANCJ 和 RAP80 共缺失的细胞中 RPA 和 RAD51 焦点的增加归因于 Mre11 和 CtIP 核酸酶产生的单链 DNA。总之,我们基于细胞的研究结果与生化研究一起表明,FANCJ 在修复 ICL 诱导的 DNA 损伤过程中具有抑制不完全加工和毒性联合 DNA 分子的关键功能。