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GATA factor mutations in hematologic disease

John D. Crispino and Marshall S. Horwitz

Abstract

GATA family proteins play essential roles in development of many cell types, including hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1,2 and 3, are essential for normal hematopoiesis, and their mutations are responsible for a variety of blood disorders. Acquired and inherited GATA1 mutations contribute to Diamond Blackfan anemia, acute megakaryoblastic leukemia, transient myeloproliferative disorder and a group of related congenital dyserythropoietic anemias with thrombocytopenia. On the other hand, germline mutations in GATA2 are associated with GATA2-deficiency syndrome, while acquired mutations are seen in myelodysplastic syndrome, acute myeloid leukemia and in blast crisis transformation of chronic myeloid leukemia. The fact that mutations in these genes are commonly seen in blood disorders underscores their critical roles and highlights the need to develop targeted therapies for transcription factors. This review focuses on hematopoietic disorders that are associated with mutations in two prominent GATA family members, GATA1 and GATA2.

  • Submitted September 2, 2016.
  • Accepted October 11, 2016.