Razavi Arezousadat, Varela-Castillo Paulina, Yang Xiang-Jiao
Rosalind and Morris Goodman Cancer Institute, McGill University, Montreal, Quebec, Canada.
Department of Medicine, McGill University, Montreal, Quebec, Canada.
Results Probl Cell Differ. 2025;75:411-434. doi: 10.1007/978-3-031-91459-1_15.
Bromodomain and PHD finger-containing protein 1 (BRPF1) is an essential epigenetic regulator and plays a key role in post-translational modification of histones. It is a chromatin reader that recognizes acetylated histones and interacts with the paralogous lysine acetyltransferases KAT6A and KAT6B to promote histone acetylation and related acylations, such as propionylation, at lysine 23 of histone H3, thereby influencing gene expression and regulating developmental programs. BRPF1 contributes to a variety of cellular processes such as cell cycle progression, cell proliferation, cell differentiation, and responses to cellular stresses, including DNA damage. Moreover, BRPF1 is implicated in hematopoiesis, embryonic development, skeletal development, neurodevelopment, neurogenesis, learning, and memory. BRPF1 gene knockout in mice leads to severe bone marrow failure, anemia, and eventual death in a few weeks after birth. This review provides a brief overview of BRPF1 and its contribution to the molecular structure and biological functions of KAT6A and KAT6B complexes. We will explore the emerging evidence linking BRPF1 dysfunction to human diseases, particularly cancer and abnormal neurodevelopment, to highlight promising therapeutic opportunities for treating associated pathology.
含溴结构域和PHD结构域蛋白1(BRPF1)是一种重要的表观遗传调节因子,在组蛋白的翻译后修饰中起关键作用。它是一种染色质阅读器,可识别乙酰化组蛋白,并与同源赖氨酸乙酰转移酶KAT6A和KAT6B相互作用,以促进组蛋白H3赖氨酸23位的乙酰化及相关酰化,如丙酰化,从而影响基因表达并调节发育程序。BRPF1参与多种细胞过程,如细胞周期进程、细胞增殖、细胞分化以及对包括DNA损伤在内的细胞应激的反应。此外,BRPF1还与造血、胚胎发育、骨骼发育、神经发育、神经发生、学习和记忆有关。小鼠中BRPF1基因敲除会导致严重的骨髓衰竭、贫血,并在出生后几周内最终死亡。本综述简要概述了BRPF1及其对KAT6A和KAT6B复合物分子结构和生物学功能的贡献。我们将探讨将BRPF1功能障碍与人类疾病,特别是癌症和异常神经发育联系起来的新证据,以突出治疗相关病理学的潜在治疗机会。