GATA1
小结
GATA1编码蛋白是一种转录因子，参与红细胞和血小板发育，是造血分化的主要调节因子。GATA1可以激活许多参与红细胞和巨核细胞发育的关键基因，包括β球蛋白基因和促红细胞生成素受体。GATA1的胚系突变与贫血、血小板减少和卟啉症有关。由于GATA1蛋白表达减少，GATA1胚系突变与Diamond Blackfan贫血症相关。在唐氏综合征患者中，GATA1的突变与急性巨核细胞白血病的发展和短暂性髓系疾病有关。GATA1的表达减少与造血系统恶性肿瘤的发展同时发生。
GATA1 is a transcription factor that functions as a master regulator of hematopoietic differentiation. GATA1 activates the expression of many important genes involved in erythroid and megakaryocyte development, including the beta-globin gene and erythropoietin receptor. Appropriate expression of GATA1 in hematopoietic progenitor cells is critical for the maturation of red blood cells, megakaryocytes, mast cells and eosinophils. Loss of GATA1 expression in murine models suppresses the production of red blood cells, highlighting the importance of GATA1 expression in erythroid development. Germline mutations in GATA1 are associated with anemia, thrombocytopenia and porphyria. Inherited GATA1 mutations have been implicated in Diamond Blackfan anemia due to the reduced translation of GATA1 protein . GATA1 mutations observed in Down Syndrome patients are associated with acute megakaryocytic leukemia development and transient myeloid disorders. Reduced expression of GATA1 corresponds with the development of hematopoietic malignancies due to inadequate production of erythroid cell types.