表观遗传调控,其特征是可逆和可遗传的遗传改变,而不改变DNA序列,最近越来越多的研究疾病。组蛋白变异调控是表观遗传调控的重要组成部分。组蛋白变体对典型组蛋白的取代深刻地改变了局部染色质结构,并调节了DNA对调节因子的可及性。从而对基因调控和DNA损伤修复产生重要影响。组蛋白H2A变体,主要包括H2A。Z,H2A.B,macroH2A,H2A。X,是具有最大序列多样性的所有组蛋白变体中最丰富的鉴定变体。具有不同的染色质占用和结构,组蛋白H2A变体在基因转录和DNA损伤修复中执行不同的功能。它们与多种病理生理机制和不同疾病的出现有关。癌症,胚胎发育异常,神经系统疾病,代谢性疾病,和心脏病都与组蛋白H2A变异有关。本文综述了H2A组蛋白变异体在哺乳动物中的功能,包括H2A。Z,H2A.B,macroH2A,H2A。X,以及他们目前在各种疾病中的作用。
Epigenetic regulation, which is characterized by reversible and heritable genetic alterations without changing DNA sequences, has recently been increasingly studied in diseases. Histone variant regulation is an essential component of epigenetic regulation. The substitution of canonical histones by histone variants profoundly alters the local chromatin structure and modulates DNA accessibility to regulatory factors, thereby exerting a pivotal influence on gene regulation and DNA damage repair. Histone H2A variants, mainly including H2A.Z, H2A.B, macroH2A, and H2A.X, are the most abundant identified variants among all histone variants with the greatest sequence diversity. Harboring varied chromatin occupancy and structures, histone H2A variants perform distinct functions in gene transcription and DNA damage repair. They are implicated in multiple pathophysiological mechanisms and the emergence of different illnesses. Cancer, embryonic development abnormalities, neurological diseases, metabolic diseases, and heart diseases have all been linked to histone H2A variant alterations. This review focuses on the functions of H2A histone variants in mammals, including H2A.Z, H2A.B, macroH2A, and H2A.X, and their current roles in various diseases.