Tohoku J. Exp. Med., 2017 June, 242(2)

Invited Review

GATA Transcription Factors: Basic Principles and Related Human Disorders

TOHRU FUJIWARA¹

¹Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan

The development of mature blood cell from hematopoietic stem cells is regulated by transcription factors that coordinate the expression of lineage-specific genes. GATA transcription factors are zinc finger DNA-binding proteins that play crucial roles in various biological processes, including hematopoiesis. Among GATA family proteins, GATA-1, GATA-2, and GATA-3 are essential for hematopoiesis. GATA-1 functions to promote development of erythrocytes, megakaryocytes, eosinophils, and mast cells. Mutations in GATA-1 are associated with acute megakaryoblastic leukemia (AMKL), congenital erythroid hypoplasia (Diamond-Blackfan anemia; DBA), and X-linked anemia and/or thrombocytopenia. Conversely, GATA-2 functions early in hematopoiesis and is required for maintenance and expansion of hematopoietic stem cells (HSCs) and/or multipotent progenitors. GATA-2 mutations are associated with immunodeficiency, lymphedema, myelodysplastic syndrome (MDS), and leukemia. Furthermore, decreased GATA-2 expression may contribute to the pathophysiology of aplastic anemia. GATA-3 has an important role in T cell development, and has been suggested to be involved in the pathophysiology of acute lymphoblastic leukemias. This review summarizes current knowledge on hematological disorders associated with GATA-1 and GATA-2 mutations.

keywords —— GATA-1; GATA-2; hematological disease; hematopoiesis; transcription factor

© 2017 Tohoku University Medical Press

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Tohoku J. Exp. Med., 2017, 242, 83-91

Correspondence: Tohru Fujiwara, M.D., Ph.D., Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan.

e-mail: fujiwara-to@apple.email.ne.jp