Li Zheng, Wu Xingxuan, Liu Liu, Rao Shaohong, Liao Yanting, Liu Mengting, Peng Bin, Zhang Qiongdan, Xia Yisui, Zhai Yuanliang, Takeda Shunichi, Xu Xingzhi
Guangdong Key Laboratory for Genome Stability & Disease Prevention and Carson International Cancer Center, Marshall Laboratory of Biomedical Engineering, Shenzhen University Medical School, Shenzhen University, Shenzhen, China.
Shenzhen University General Hospital-Dehua Hospital Joint Research Center on Precision Medicine (sgh-dhhCPM), Dehua Hospital, Dehua, China.
EMBO J. 2025 Sep 12. doi: 10.1038/s44318-025-00562-6.
Modification with UFM1 (UFMylation) is essential for cell proliferation, but its precise mechanism of action is unclear. Furthermore, the UFMylation pathway has been associated with microcephalic primordial dwarfism (MPD) disorders, and mutations causative for MPD are also identified in genes encoding components of the replicative DNA helicase complex, including the MCM hexamer. Here, we reveal that UFMylation regulates DNA replication, and that all MPD-associated mutations in UFMylation enzymes impair replication. Mechanistically, the UFM1 E3 ligase UFL1 catalyzes Lys583 UFMylation of MCM5, a critical component of the CMG replicative DNA helicase complex. Mutation of Lys583 blocking this UFMylation event destabilizes the helicase complex, delaying origin firing and slowing replication fork progression. We conclude that MCM5 UFMylation is essential for efficient origin firing and replication fork progression, both of which ensure accurate DNA replication, cell proliferation, and prevention of MPD disorders.
用UFM1进行修饰(UFMylation)对细胞增殖至关重要,但其确切作用机制尚不清楚。此外,UFMylation途径与小头原始侏儒症(MPD)疾病有关,并且在编码复制性DNA解旋酶复合物组分的基因中也鉴定出了导致MPD的突变,包括MCM六聚体。在这里,我们揭示UFMylation调节DNA复制,并且UFMylation酶中所有与MPD相关的突变都会损害复制。从机制上讲,UFM1 E3连接酶UFL1催化CMG复制性DNA解旋酶复合物的关键组分MCM5的Lys583位点发生UFMylation。阻断此UFMylation事件的Lys583突变会使解旋酶复合物不稳定,延迟起始点激发并减缓复制叉的推进。我们得出结论,MCM5的UFMylation对于有效的起始点激发和复制叉推进至关重要,这两者都确保了准确的DNA复制、细胞增殖以及预防MPD疾病。