Human DNA Damage Response Disorders Group, Genome Damage & Stability Centre, University of Sussex, Brighton, BN1 9RQ, UK.
EMBO Rep. 2024 Aug;25(8):3432-3455. doi: 10.1038/s44319-024-00184-9. Epub 2024 Jun 28.
Cyclosporin A (CsA) induces DNA double-strand breaks in LIG4 syndrome fibroblasts, specifically upon transit through S-phase. The basis underlying this has not been described. CsA-induced genomic instability may reflect a direct role of Cyclophilin A (CYPA) in DNA repair. CYPA is a peptidyl-prolyl cis-trans isomerase (PPI). CsA inhibits the PPI activity of CYPA. Using an integrated approach involving CRISPR/Cas9-engineering, siRNA, BioID, co-immunoprecipitation, pathway-specific DNA repair investigations as well as protein expression interaction analysis, we describe novel impacts of CYPA loss and inhibition on DNA repair. We characterise a direct CYPA interaction with the NBS1 component of the MRE11-RAD50-NBS1 complex, providing evidence that CYPA influences DNA repair at the level of DNA end resection. We define a set of genetic vulnerabilities associated with CYPA loss and inhibition, identifying DNA replication fork protection as an important determinant of viability. We explore examples of how CYPA inhibition may be exploited to selectively kill cancers sharing characteristic genomic instability profiles, including MYCN-driven Neuroblastoma, Multiple Myeloma and Chronic Myelogenous Leukaemia. These findings propose a repurposing strategy for Cyclophilin inhibitors.
环孢素 A(CsA)在 LIG4 综合征成纤维细胞中诱导 DNA 双链断裂,特别是在 S 期通过时。其基础尚未描述。CsA 诱导的基因组不稳定性可能反映了亲环蛋白 A(CYPA)在 DNA 修复中的直接作用。CYPA 是一种肽基脯氨酰顺反异构酶(PPI)。CsA 抑制 CYPA 的 PPI 活性。我们采用包括 CRISPR/Cas9 工程、siRNA、BioID、共免疫沉淀、特定途径的 DNA 修复研究以及蛋白质表达相互作用分析在内的综合方法,描述了 CYPA 缺失和抑制对 DNA 修复的新影响。我们描述了 CYPA 与 MRE11-RAD50-NBS1 复合物的 NBS1 成分的直接相互作用,提供了 CYPA 影响 DNA 末端切除水平的证据。我们确定了一组与 CYPA 缺失和抑制相关的遗传脆弱性,确定了 DNA 复制叉保护是生存能力的重要决定因素。我们探讨了如何利用环孢菌素抑制剂选择性杀死具有特征性基因组不稳定性谱的癌症的例子,包括 MYCN 驱动的神经母细胞瘤、多发性骨髓瘤和慢性髓性白血病。这些发现提出了一种重新利用亲环素抑制剂的策略。