Section of Mechanisms Biomarkers and Models, Department of Environment and Health, Istituto Superiore di Sanita, Rome, Italy.
Elife. 2024 Mar 15;12:RP89981. doi: 10.7554/eLife.89981.
R-loops are non-canonical DNA structures that form during transcription and play diverse roles in various physiological processes. Disruption of R-loop homeostasis can lead to genomic instability and replication impairment, contributing to several human diseases, including cancer. Although the molecular mechanisms that protect cells against such events are not fully understood, recent research has identified fork protection factors and DNA damage response proteins as regulators of R-loop dynamics. In this study, we identify the Werner helicase-interacting protein 1 (WRNIP1) as a novel factor that counteracts transcription-associated DNA damage upon replication perturbation. Loss of WRNIP1 leads to R-loop accumulation, resulting in collisions between the replisome and transcription machinery. We observe co-localization of WRNIP1 with transcription/replication complexes and R-loops after replication perturbation, suggesting its involvement in resolving transcription-replication conflicts. Moreover, WRNIP1-deficient cells show impaired replication restart from transcription-induced fork stalling. Notably, transcription inhibition and RNase H1 overexpression rescue all the defects caused by loss of WRNIP1. Importantly, our findings highlight the critical role of WRNIP1 ubiquitin-binding zinc finger (UBZ) domain in preventing pathological persistence of R-loops and limiting DNA damage, thereby safeguarding genome integrity.
R 环是转录过程中形成的非规范 DNA 结构,在各种生理过程中发挥着多样化的作用。R 环平衡的破坏可导致基因组不稳定性和复制损伤,从而导致多种人类疾病,包括癌症。尽管保护细胞免受此类事件的分子机制尚未完全阐明,但最近的研究已经确定了叉保护因子和 DNA 损伤反应蛋白作为 R 环动力学的调节剂。在这项研究中,我们确定 Werner 解旋酶相互作用蛋白 1(WRNIP1)是一种在复制扰动时可拮抗转录相关 DNA 损伤的新型因子。WRNIP1 的缺失会导致 R 环积累,从而导致复制体和转录机器之间发生碰撞。我们观察到复制扰动后 WRNIP1 与转录/复制复合物和 R 环的共定位,提示其参与解决转录-复制冲突。此外,WRNIP1 缺陷细胞显示出从转录诱导的叉停顿中复制起始的能力受损。值得注意的是,转录抑制和 RNase H1 的过表达可挽救 WRNIP1 缺失引起的所有缺陷。重要的是,我们的研究结果强调了 WRNIP1 泛素结合锌指(UBZ)结构域在防止 R 环病理性持续存在和限制 DNA 损伤,从而保护基因组完整性方面的关键作用。