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范可尼贫血核心复合物促进CtIP依赖的末端切除,以驱动DNA双链断裂处的同源重组。

The Fanconi anemia core complex promotes CtIP-dependent end-resection to drive homologous recombination at DNA double-strand breaks.

作者信息

van de Kooij Bert, van der Wal Fenna J, Rother Magdalena B, Creixell Pau, Stout Merula, Wiegant Wouter, Joughin Brian A, Vornberger Julia, van Vugt Marcel A T M, Altmeyer Matthias, Yaffe Michael B, van Attikum Haico

机构信息

Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Current address: Department of Medical Oncology, University Medical Center Groningen, University of Groningen, the Netherlands.

出版信息

bioRxiv. 2023 Sep 6:2023.09.05.556391. doi: 10.1101/2023.09.05.556391.

Abstract

Homologous Recombination (HR) is a high-fidelity repair mechanism of DNA Double-Strand Breaks (DSBs), which are induced by irradiation, genotoxic chemicals or physiological DNA damaging processes. DSBs are also generated as intermediates during the repair of interstrand crosslinks (ICLs). In this context, the Fanconi anemia (FA) core complex, which is effectively recruited to ICLs, promotes HR-mediated DSB-repair. However, whether the FA core complex also promotes HR at ICL-independent DSBs remains controversial. Here, we identified the FA core complex members FANCL and Ube2T as HR-promoting factors in a CRISPR/Cas9-based screen with cells carrying the DSB-repair reporter DSB-Spectrum. Using isogenic cell-line models, we validated the HR-function of FANCL and Ube2T, and demonstrated a similar function for their ubiquitination-substrate FANCD2. We further show that FANCL and Ube2T are directly recruited to DSBs and are required for the accumulation of FANCD2 at these break sites. Mechanistically, we demonstrate that FANCL ubiquitin ligase activity is required for the accumulation of the nuclease CtIP at DSBs, and consequently for optimal end-resection and Rad51 loading. CtIP overexpression rescues HR in FANCL-deficient cells, validating that FANCL primarily regulates HR by promoting CtIP recruitment. Together, these data demonstrate that the FA core complex and FANCD2 have a dual genome maintenance function by promoting repair of DSBs as well as the repair of ICLs.

摘要

同源重组(HR)是一种用于修复DNA双链断裂(DSB)的高保真机制,DNA双链断裂可由辐射、基因毒性化学物质或生理性DNA损伤过程诱导产生。在修复链间交联(ICL)的过程中,双链断裂也作为中间产物产生。在这种情况下,能有效募集到链间交联处的范可尼贫血(FA)核心复合物可促进由同源重组介导的双链断裂修复。然而,FA核心复合物是否也能促进非链间交联依赖性双链断裂处的同源重组仍存在争议。在此,我们在一个基于CRISPR/Cas9的筛选中,利用携带双链断裂修复报告基因DSB-Spectrum的细胞,将FA核心复合物成员FANCL和Ube2T鉴定为促进同源重组的因子。使用同基因细胞系模型,我们验证了FANCL和Ube2T的同源重组功能,并证明了它们的泛素化底物FANCD2也具有类似功能。我们进一步表明,FANCL和Ube2T可直接募集到双链断裂处,并且是FANCD2在这些断裂位点积累所必需的。从机制上来说,我们证明FANCL泛素连接酶活性是核酸酶CtIP在双链断裂处积累所必需的,因此也是最佳末端切除和Rad51装载所必需的。CtIP的过表达可挽救FANCL缺陷细胞中的同源重组,这证实FANCL主要通过促进CtIP的募集来调节同源重组。总之,这些数据表明,FA核心复合物和FANCD2通过促进双链断裂修复以及链间交联修复,具有双重的基因组维持功能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4e2b/10508776/6547771f50f8/nihpp-2023.09.05.556391v2-f0001.jpg

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