GATA结合蛋白1的造血调控功能及其突变导致的红系/巨核系相关遗传病  

Hematopoietic regulation of transcription factor GATA1 and mutations causing hereditary erythroid and megakaryocytic disorders

作　　者：丁碧莹 王学锋[1] DING Biying;WANG Xuefeng(Department of Clinical Laboratory,Ruijin Hospital Affiliated to Shanghai Jiaotong University,Shanghai 200025,China)

机构地区：[1]上海交通大学附属瑞金医院检验科,上海200025

出　　处：《中国输血杂志》2023年第1期85-90,共6页Chinese Journal of Blood Transfusion

摘　　要：GATA结合蛋白1(GATA1)是1个重要的造血谱系转录因子,在转录水平上特异性调控红系和巨核系细胞的增殖和分化,以此维持这2个系细胞的正常发育成熟。GATA1的功能结构由1个N端转录激活域(N-TAD)和2个锌指结构(NF与CF)构成。GATA1的蛋白序列在不同物种中高度保守,其改变将导致红系和巨核系相关基因转录失调,从而产生程度不一的临床表型。本文从GATA1的分子结构、在红系和巨核系细胞中的造血调控功能以及突变导致的遗传性红系/巨核系造血调控紊乱等方面予以综述。GATA-binding protein 1(GATA1), an important hematopoietic transcription factor, specifically regulates the proliferation and differentiation of erythroid and megakaryoid cells at the transcription level, which maintains the normal development and maturation of these two lineages. The functional structure of GATA1 is composed of one N-terminal transactivation domain(N-TAD) and two zinc fingers(NF and CF). GATA1 is highly conserved in different species. Alteration of GATA1 expression or function will lead to transcriptional disorder of erythrocyte and megakaryocyte related genes, resulting in various clinical phenotypes. This article reviews the molecular structure of GATA1, its transcriptional regulation in erythrocyte and megakaryocyte, and the hereditary hematopoietic regulatory disorders of these two lineages caused by GATA1 mutations.

关 键 词：GATA结合蛋白1 红细胞系 巨核细胞系 造血调控紊乱 转录调控 锌指结构 基因突变 

分 类 号：R331.141[医药卫生—人体生理学] R551[医药卫生—基础医学] R446.112