GATA1-deficient mice die in utero on 12.5 embryonic day (E12.5) due to a complete block of primitive erythropoiesis in the yolk sac, while GATA2-deficient mice die on E10.5 due to severe anemia and hemorrhage, since GATA2 is essential for the development of hemangioblasts, which are common precursor cells of hematopoietic stem cells and endothelial cells. In contrast, GATA3 is critical to the development of Th2 cells. However, GATA3-deficient mice die in utero before the particular phenotype of hematopoietic system emerges, which is caused by a defect in the development of nervous and renal urinary systems. It has been well elucidated that defects in the hematopoietic GATA factors disturb hematopoietic homeostasis. However, details on how GATA factor dysfunction leads to human hematopoietic diseases remain to be clarified. At the end of the twentieth century, several mutations in GATA1 gene were identified as the cause of familial thrombocytopenia. Since then, various types of hematopoietic diseases elicited by GATA1 and GATA2 dysfunctions have been reported. This review summarizes recent topics of GATA factor-related hematopoietic diseases.
Keywords: GATA transcription factors; Germline mutation; Somatic mutation.