Department of Gastroenterology, Hubei Clinical Center and Key Laboratory of Intestinal and Colorectal Disease, Ministry of Education Key Laboratory of Combinatorial Biosynthesis and Drug Discovery, Taikang Center for Life and Medical Sciences, Zhongnan Hospital of Wuhan University, School of Pharmaceutical Sciences, Wuhan University, Wuhan, 430071, China.
Department of Infectious Diseases, Institute of Pediatrics, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518038, China.
Adv Sci (Weinh). 2024 Aug;11(30):e2307751. doi: 10.1002/advs.202307751. Epub 2024 Jun 18.
Genomic instability is not only a hallmark of senescent cells but also a key factor driving cellular senescence, and replication stress is the main source of genomic instability. Defective prelamin A processing caused by lamin A/C (LMNA) or zinc metallopeptidase STE24 (ZMPSTE24) gene mutations results in premature aging. Although previous studies have shown that dysregulated lamin A interferes with DNA replication and causes replication stress, the relationship between lamin A dysfunction and replication stress remains largely unknown. Here, an increase in baseline replication stress and genomic instability is found in prelamin A-expressing cells. Moreover, prelamin A confers hypersensitivity of cells to exogenous replication stress, resulting in decreased cell survival and exacerbated genomic instability. These effects occur because prelamin A promotes MRE11-mediated resection of stalled replication forks. Fanconi anemia (FA) proteins, which play important roles in replication fork maintenance, are downregulated by prelamin A in a retinoblastoma (RB)/E2F-dependent manner. Additionally, prelamin A inhibits the activation of the FA pathway upon replication stress. More importantly, FA pathway downregulation is an upstream event of p53-p21 axis activation during the induction of prelamin A expression. Overall, these findings highlight the critical role of FA pathway dysfunction in driving replication stress-induced genomic instability and cellular senescence in prelamin A-expressing cells.
基因组不稳定性不仅是衰老细胞的标志,也是驱动细胞衰老的关键因素,而复制应激是基因组不稳定性的主要来源。核纤层蛋白 A/C(LMNA)或锌金属肽酶 STE24(ZMPSTE24)基因突变导致的前层粘连蛋白 A 处理缺陷会导致早衰。尽管先前的研究表明,失调的核纤层蛋白 A 会干扰 DNA 复制并导致复制应激,但核纤层蛋白 A 功能障碍与复制应激之间的关系在很大程度上仍不清楚。在这里,发现表达前层粘连蛋白 A 的细胞中存在基线复制应激和基因组不稳定性增加。此外,前层粘连蛋白 A 使细胞对外源复制应激更加敏感,导致细胞存活减少和基因组不稳定性加剧。这些效应是因为前层粘连蛋白 A 促进了 MRE11 介导的停滞复制叉的切除。在复制叉维持中发挥重要作用的范可尼贫血(FA)蛋白以前层粘连蛋白 A 依赖的方式被下调。此外,前层粘连蛋白 A 在复制应激时抑制 FA 途径的激活。更重要的是,FA 途径下调是前层粘连蛋白 A 表达诱导期间 p53-p21 轴激活的上游事件。总的来说,这些发现强调了 FA 途径功能障碍在驱动前层粘连蛋白 A 表达细胞中复制应激诱导的基因组不稳定性和细胞衰老中的关键作用。