Hematopoietic regulation of transcription factor GATA1 and mutations causing hereditary erythroid and megakaryocytic disorders
10.13303/j.cjbt.issn.1004-549x.2023.01.022
- VernacularTitle: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
- Author:
Biying DING
1
;
Xuefeng WANG
1
Author Information
1. Department of Clinical Laboratory, Ruijin Hospital Affiliated to Shanghai Jiaotong University, Shanghai 200025, China
- Publication Type:Journal Article
- Keywords:
GATA-binding protein 1;
erythroid lineage;
megakaryoid lineage;
hematopoietic regulatory disorder;
transcriptional regulation;
zinc finger;
mutation
- From:
Chinese Journal of Blood Transfusion
2023;36(1):85-90
- CountryChina
- Language:Chinese
-
Abstract:
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.
