Department of Molecular and Cell Biology, The Scripps Research Institute, La Jolla, CA, 92037, USA.
College of Life Science, Capital Normal University, Beijing, 100037, China.
Nat Commun. 2024 Oct 5;15(1):8648. doi: 10.1038/s41467-024-52916-z.
Break-induced replication (BIR) is mutagenic, and thus its use requires tight regulation, yet the underlying mechanisms remain elusive. Here we uncover an important role of 53BP1 in suppressing BIR after end resection at double strand breaks (DSBs), distinct from its end protection activity, providing insight into the mechanisms governing BIR regulation and DSB repair pathway selection. We demonstrate that loss of 53BP1 induces BIR-like hyperrecombination, in a manner dependent on Polα-primase-mediated end fill-in DNA synthesis on single-stranded DNA (ssDNA) overhangs at DSBs, leading to PCNA ubiquitination and PIF1 recruitment to activate BIR. On broken replication forks, where BIR is required for repairing single-ended DSBs (seDSBs), SMARCAD1 displaces 53BP1 to facilitate the localization of ubiquitinated PCNA and PIF1 to DSBs for BIR activation. Hyper BIR associated with 53BP1 deficiency manifests template switching and large deletions, underscoring another aspect of 53BP1 in suppressing genome instability. The synthetic lethal interaction between the 53BP1 and BIR pathways provides opportunities for targeted cancer treatment.
断裂诱导复制(BIR)具有诱变作用,因此其使用需要严格的调控,但其潜在机制仍不清楚。在这里,我们揭示了 53BP1 在双链断裂(DSB)末端切除后抑制 BIR 的重要作用,这与它的末端保护活性不同,为理解调控 BIR 的机制和 DSB 修复途径选择提供了线索。我们证明,53BP1 的缺失会诱导类似于 BIR 的超重组,这种方式依赖于 Polα-引发酶介导的在 DSB 上单链 DNA(ssDNA)突出端的末端填补 DNA 合成,导致 PCNA 泛素化和 PIF1 募集以激活 BIR。在断裂的复制叉上,BIR 是修复单端 DSB(seDSB)所必需的,SMARCAD1 取代 53BP1 以促进连接酶介导的 PCNA 和 PIF1 定位于 DSB 以激活 BIR。与 53BP1 缺陷相关的过度 BIR 表现出模板转换和大片段缺失,突出了 53BP1 抑制基因组不稳定性的另一个方面。53BP1 和 BIR 途径之间的合成致死相互作用为靶向癌症治疗提供了机会。