Yadav Priyanka, Jain Ronit, Yadav Rajesh Kumar
Cancer Epigenomics Laboratory, National Institute of Immunology, New Delhi, India.
Front Cell Dev Biol. 2024 Oct 8;12:1455572. doi: 10.3389/fcell.2024.1455572. eCollection 2024.
Epigenetic mechanisms often fuel the quick evolution of cancer cells from normal cells. Mutations or aberrant expressions in the enzymes of DNA methylation, histone post-translational modifications, and chromatin remodellers have been extensively investigated in cancer pathogenesis; however, cancer-associated histone mutants have gained momentum in recent decades. Next-generation sequencing of cancer cells has identified somatic recurrent mutations in all the histones (H3, H4, H2A, H2B, and H1) with different frequencies for various tumour types. Importantly, the well-characterised H3K27M, H3G34R/V, and H3K36M mutations are termed as oncohistone mutants because of their wide roles, from defects in cellular differentiation, transcriptional dysregulation, and perturbed epigenomic profiles to genomic instabilities. Mechanistically, these histone mutants impart their effects on histone modifications and/or on irregular distributions of chromatin complexes. Recent studies have identified the crucial roles of the H3K27M and H3G34R/V mutants in the DNA damage response pathway, but their impacts on chemotherapy and tumour progression remain elusive. In this review, we summarise the recent developments in their functions toward genomic instabilities and tumour progression. Finally, we discuss how such a mechanistic understanding can be harnessed toward the potential treatment of tumours harbouring the H3K27M, H3G34R/V, and H3K36M mutations.
表观遗传机制常常推动癌细胞从正常细胞快速演变。DNA甲基化、组蛋白翻译后修饰及染色质重塑酶的突变或异常表达在癌症发病机制中已得到广泛研究;然而,近几十年来,癌症相关的组蛋白突变体受到了更多关注。对癌细胞进行的新一代测序已在所有组蛋白(H3、H4、H2A、H2B和H1)中鉴定出体细胞复发性突变,不同肿瘤类型的突变频率各异。重要的是,特征明确的H3K27M、H3G34R/V和H3K36M突变因其广泛作用——从细胞分化缺陷、转录失调、表观基因组图谱紊乱到基因组不稳定——而被称为癌组蛋白突变体。从机制上讲,这些组蛋白突变体对组蛋白修饰和/或染色质复合物的不规则分布产生影响。最近的研究已经确定了H3K27M和H3G34R/V突变体在DNA损伤反应途径中的关键作用,但其对化疗和肿瘤进展的影响仍不清楚。在这篇综述中,我们总结了它们在基因组不稳定和肿瘤进展方面功能的最新进展。最后,我们讨论如何利用这种机制性认识来潜在治疗携带H3K27M、H3G34R/V和H3K36M突变的肿瘤。