Lee Tae-Hee, Qiao Colina X, Kuzin Vladislav, Shi Yuepeng, Ramanaranayan Vijayalalitha, Wu Tongyu, Zhou Xianzhen, Corujo David, Buschbeck Marcus, Baranello Laura, Oberdoerffer Philipp
Department of Radiation Oncology and Molecular Radiation Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
Department of Biochemistry and Molecular Biology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21287.
bioRxiv. 2024 Oct 25:2024.10.22.619113. doi: 10.1101/2024.10.22.619113.
DNA transactions introduce torsional constraints that pose an inherent risk to genome integrity. While topoisomerase 1 (TOP1) activity is essential for removing DNA supercoiling, aberrant stabilization of TOP1:DNA cleavage complexes (TOP1ccs) can result in cytotoxic DNA lesions. What protects genomic hot spots of topological stress from aberrant TOP1 activity remains unknown. Here, we identify chromatin context as an essential means to coordinate TOP1cc resolution. Through its ability to bind poly(ADP-ribose) (PAR), a protein modification required for TOP1cc repair, the histone variant macroH2A1.1 establishes a TOP1-permissive chromatin environment, while the alternatively spliced macroH2A1.2 isoform is unable to bind PAR or protect from TOP1ccs. By visualizing transcription-induced topological stress in single cells, we find that macroH2A1.1 facilitates PAR-dependent recruitment of the TOP1cc repair effector XRCC1 to protect from ssDNA damage. Impaired macroH2A1.1 splicing, a frequent cancer feature, was predictive of increased sensitivity to TOP1 poisons in a pharmaco-genomic screen in breast cancer cells, and macroH2A1.1 inactivation mirrored this effect. Consistent with this, low macroH2A1.1 expression correlated with improved survival in cancer patients treated with TOP1 inhibitors. We propose that macroH2A1 alternative splicing serves as an epigenetic modulator of TOP1-associated genome maintenance and a potential cancer vulnerability.
DNA 交易引入了扭转约束,这对基因组完整性构成了内在风险。虽然拓扑异构酶 1(TOP1)的活性对于消除 DNA 超螺旋至关重要,但 TOP1:DNA 切割复合物(TOP1ccs)的异常稳定会导致细胞毒性 DNA 损伤。是什么保护拓扑应激的基因组热点免受异常 TOP1 活性的影响仍然未知。在这里,我们确定染色质环境是协调 TOP1cc 解决的重要手段。通过其结合聚(ADP - 核糖)(PAR)的能力,PAR 是 TOP1cc 修复所需的蛋白质修饰,组蛋白变体 macroH2A1.1 建立了一个允许 TOP1 的染色质环境,而可变剪接的 macroH2A1.2 异构体则无法结合 PAR 或保护免受 TOP1ccs 的影响。通过可视化单细胞中转录诱导的拓扑应激,我们发现 macroH2A1.1 促进了 TOP1cc 修复效应因子 XRCC1 的 PAR 依赖性募集,以保护免受单链 DNA 损伤。macroH2A1.1 剪接受损是一种常见的癌症特征,在乳腺癌细胞的药物基因组筛选中,它预示着对 TOP1 毒素的敏感性增加,并且 macroH2A1.1 失活也反映了这种效应。与此一致的是,低 macroH2A1.1 表达与接受 TOP1 抑制剂治疗的癌症患者的生存率提高相关。我们提出,macroH2A1 可变剪接作为 TOP1 相关基因组维持的表观遗传调节剂和潜在的癌症脆弱点。