Institut de recherches cliniques de Montréal, Center for Genetic and Neurological Diseases, 110 avenue des Pins Ouest, Montréal, QC H2W 1R7, Canada; Division of Experimental Medicine, Faculty of Medicine, McGill University, Montréal, QC H4A 3J1, Canada.
Institut de recherches cliniques de Montréal, Center for Genetic and Neurological Diseases, 110 avenue des Pins Ouest, Montréal, QC H2W 1R7, Canada.
Cell Rep. 2024 Sep 24;43(9):114738. doi: 10.1016/j.celrep.2024.114738. Epub 2024 Sep 14.
The highly repetitive and transcriptionally active ribosomal DNA (rDNA) genes are exceedingly susceptible to genotoxic stress. Induction of DNA double-strand breaks (DSBs) in rDNA repeats is associated with ataxia-telangiectasia-mutated (ATM)-dependent rDNA silencing and nucleolar reorganization where rDNA is segregated into nucleolar caps. However, the regulatory events underlying this response remain elusive. Here, we identify protein UFMylation as essential for rDNA-damage response in human cells. We further show the only ubiquitin-fold modifier 1 (UFM1)-E3 ligase UFL1 and its binding partner DDRGK1 localize to nucleolar caps upon rDNA damage and that UFL1 loss impairs ATM activation and rDNA transcriptional silencing, leading to reduced rDNA segregation. Moreover, analysis of nuclear and nucleolar UFMylation targets in response to DSB induction further identifies key DNA-repair factors including ATM, in addition to chromatin and actin network regulators. Taken together, our data provide evidence of an essential role for UFMylation in orchestrating rDNA DSB repair.
高度重复且转录活跃的核糖体 DNA(rDNA)基因极易受到遗传毒性应激的影响。rDNA 重复序列中 DNA 双链断裂(DSBs)的诱导与共济失调毛细血管扩张突变(ATM)依赖性 rDNA 沉默和核仁重排有关,其中 rDNA 被分离到核仁帽中。然而,这种反应背后的调节事件仍然难以捉摸。在这里,我们确定蛋白 UFMylation 对于人类细胞中的 rDNA 损伤反应是必不可少的。我们进一步表明,唯一的泛素样修饰物 1(UFM1)-E3 连接酶 UFL1 及其结合伴侣 DDRGK1 在 rDNA 损伤后定位于核仁帽,并且 UFL1 的缺失会损害 ATM 的激活和 rDNA 的转录沉默,导致 rDNA 分离减少。此外,对 DSB 诱导后核和核仁 UFMylation 靶标的分析进一步鉴定了关键的 DNA 修复因子,包括 ATM,以及染色质和肌动蛋白网络调节剂。总之,我们的数据提供了证据表明 UFMylation 在协调 rDNA DSB 修复中具有重要作用。