赖氨酸乙酰转移酶8,也称为KAT8,是一种参与表观遗传调控的酶,主要以其调节组蛋白乙酰化的能力而闻名。这篇综述概述了KAT8,强调了它的生物学功能,影响许多细胞过程,从染色质重塑到遗传和表观遗传调控。在许多模型系统中,KAT8的乙酰化组蛋白H4赖氨酸16(H4K16)是染色质结构修饰的关键,影响基因表达,细胞增殖,分化,和凋亡。此外,这篇综述总结了KAT8基因内观察到的遗传变异性,强调影响其功能功效并与不同表型结果相关的各种单核苷酸多态性(SNP)的含义,从代谢特征到神经系统疾病。对KAT8结构生物学的高级见解揭示了它与多蛋白组装体的相互作用,例如男性特异性致死(MSL)和非特异性致死(NSL)复合物,调节广泛的转录活动和发育功能。此外,本文综述了KAT8在细胞稳态中的作用,干细胞身份,DNA损伤修复,和免疫反应,强调其作为治疗靶点的潜力。KAT8对健康和疾病的影响,正如最近的研究所证明的那样,肯定其在细胞生理学和人类病理学中的重要性。
Lysine acetyltransferase 8, also known as KAT8, is an enzyme involved in epigenetic regulation, primarily recognized for its ability to modulate histone acetylation. This review presents an overview of KAT8, emphasizing its biological functions, which impact many cellular processes and range from chromatin remodeling to genetic and epigenetic regulation. In many model systems, KAT8\'s acetylation of histone H4 lysine 16 (H4K16) is critical for chromatin structure modification, which influences gene expression, cell proliferation, differentiation, and apoptosis. Furthermore, this review summarizes the observed genetic variability within the KAT8 gene, underscoring the implications of various single nucleotide polymorphisms (SNPs) that affect its functional efficacy and are linked to diverse phenotypic outcomes, ranging from metabolic traits to neurological disorders. Advanced insights into the structural biology of KAT8 reveal its interaction with multiprotein assemblies, such as the male-specific lethal (MSL) and non-specific lethal (NSL) complexes, which regulate a wide range of transcriptional activities and developmental functions. Additionally, this review focuses on KAT8\'s roles in cellular homeostasis, stem cell identity, DNA damage repair, and immune response, highlighting its potential as a therapeutic target. The implications of KAT8 in health and disease, as evidenced by recent studies, affirm its importance in cellular physiology and human pathology.