Department and Graduate Institute of Pharmacology, College of Medicine, National Taiwan University, Taipei 100233, Taiwan.
Institute of Molecular and Cellular Biology, National Taiwan University, Taipei 106319, Taiwan.
Nucleic Acids Res. 2024 Jan 11;52(1):204-222. doi: 10.1093/nar/gkad973.
Aberrant DNA/RNA hybrids (R-loops) formed during transcription and replication disturbances pose threats to genome stability. DHX9 is an RNA helicase involved in R-loop resolution, but how DHX9 is regulated in response to genotoxic stress remains unclear. Here we report that DHX9 is phosphorylated at S321 and S688, with S321 phosphorylation primarily induced by ATR after DNA damage. Phosphorylation of DHX9 at S321 promotes its interaction with γH2AX, BRCA1 and RPA, and is required for its association with R-loops under genotoxic stress. Inhibition of ATR or expression of the non-phosphorylatable DHX9S321A prevents DHX9 from interacting with RPA and R-loops, leading to the accumulation of stress-induced R-loops. Furthermore, depletion of RPA reduces the association between DHX9 and γH2AX, and in vitro binding analysis confirms a direct interaction between DHX9 and RPA. Notably, cells with the non-phosphorylatable DHX9S321A variant exhibit hypersensitivity to genotoxic stress, while those expressing the phosphomimetic DHX9S321D variant prevent R-loop accumulation and display resistance to DNA damage agents. In summary, we uncover a new mechanism by which ATR directly regulates DHX9 through phosphorylation to eliminate stress-induced R-loops.
异常的 DNA/RNA 杂交(R 环)在转录和复制干扰过程中形成,对基因组稳定性构成威胁。DHX9 是一种参与 R 环解析的 RNA 解旋酶,但 DHX9 如何响应遗传毒性应激进行调节尚不清楚。在这里,我们报告 DHX9 在 S321 和 S688 位点发生磷酸化,其中 S321 磷酸化主要由 DNA 损伤后的 ATR 诱导。DHX9 在 S321 位点的磷酸化促进其与 γH2AX、BRCA1 和 RPA 的相互作用,并且在遗传毒性应激下与 R 环的结合是必需的。ATR 的抑制或非磷酸化 DHX9S321A 的表达阻止了 DHX9 与 RPA 和 R 环的相互作用,导致应激诱导的 R 环积累。此外,RPA 的耗竭减少了 DHX9 与 γH2AX 之间的结合,体外结合分析证实了 DHX9 与 RPA 之间的直接相互作用。值得注意的是,表达非磷酸化 DHX9S321A 变体的细胞对遗传毒性应激表现出超敏性,而表达磷酸化模拟 DHX9S321D 变体的细胞则防止 R 环积累并对 DNA 损伤剂表现出抗性。总之,我们揭示了一种新的机制,即 ATR 通过磷酸化直接调节 DHX9 以消除应激诱导的 R 环。