Department of Experimental Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan.
Department of Biochemistry and Molecular Biology and Zhejiang Key Laboratory of Pathophysiology, School of Basic Medical Sciences, Health Science Center, Ningbo University, Ningbo, China.
Cancer Sci. 2024 Jun;115(6):1808-1819. doi: 10.1111/cas.16159. Epub 2024 Apr 4.
Rev1 has two important functions in the translesion synthesis pathway, including dCMP transferase activity, and acts as a scaffolding protein for other polymerases involved in translesion synthesis. However, the role of Rev1 in mutagenesis and tumorigenesis in vivo remains unclear. We previously generated Rev1-overexpressing (Rev1-Tg) mice and reported that they exhibited a significantly increased incidence of intestinal adenoma and thymic lymphoma (TL) after N-methyl-N-nitrosourea (MNU) treatment. In this study, we investigated mutagenesis of MNU-induced TL tumorigenesis in wild-type (WT) and Rev1-Tg mice using diverse approaches, including whole-exome sequencing (WES). In Rev1-Tg TLs, the mutation frequency was higher than that in WT TL in most cases. However, no difference in the number of nonsynonymous mutations in the Catalogue of Somatic Mutations in Cancer (COSMIC) genes was observed, and mutations involved in Notch1 and MAPK signaling were similarly detected in both TLs. Mutational signature analysis of WT and Rev1-Tg TLs revealed cosine similarity with COSMIC mutational SBS5 (aging-related) and SBS11 (alkylation-related). Interestingly, the total number of mutations, but not the genotypes of WT and Rev1-Tg, was positively correlated with the relative contribution of SBS5 in individual TLs, suggesting that genetic instability could be accelerated in Rev1-Tg TLs. Finally, we demonstrated that preleukemic cells could be detected earlier in Rev1-Tg mice than in WT mice, following MNU treatment. In conclusion, Rev1 overexpression accelerates mutagenesis and increases the incidence of MNU-induced TL by shortening the latency period, which may be associated with more frequent DNA damage-induced genetic instability.
Rev1 在跨损伤合成途径中具有两个重要功能,包括 dCMP 转移酶活性,并作为参与跨损伤合成的其他聚合酶的支架蛋白。然而,Rev1 在体内诱变和肿瘤发生中的作用尚不清楚。我们之前生成了 Rev1 过表达(Rev1-Tg)小鼠,并报告说它们在 N-甲基-N-亚硝脲(MNU)处理后表现出明显增加的肠道腺瘤和胸腺淋巴瘤(TL)发生率。在这项研究中,我们使用多种方法,包括全外显子组测序(WES),研究了 MNU 诱导的 TL 肿瘤发生中的诱变,包括 Rev1-Tg 小鼠和野生型(WT)小鼠。在 Rev1-Tg TL 中,突变频率在大多数情况下高于 WT TL。然而,在 COSMIC 基因中未观察到非同义突变数量的差异,并且在两种 TL 中均检测到 Notch1 和 MAPK 信号通路参与的突变。WT 和 Rev1-Tg TL 的突变特征分析显示与 COSMIC 突变 SBS5(与年龄相关)和 SBS11(与烷基化相关)具有余弦相似性。有趣的是,突变总数,但不是 WT 和 Rev1-Tg 的基因型,与个体 TL 中 SBS5 的相对贡献呈正相关,这表明 Rev1-Tg TL 中的遗传不稳定性可能会加速。最后,我们证明了在 MNU 处理后,Rev1-Tg 小鼠中可以更早地检测到白血病前细胞,而不是在 WT 小鼠中。总之,Rev1 过表达通过缩短潜伏期加速了突变,并增加了 MNU 诱导的 TL 的发生率,这可能与更频繁的 DNA 损伤诱导的遗传不稳定性有关。