GATA factor mutations in hematologic disease.
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 inheritedGATA1mutations contribute to Diamond-Blackfan anemia, acute megakaryoblastic leukemia, transient myeloproliferative disorder, and a group of related congenital dyserythropoietic anemias with thrombocytopenia. Conversely, germ line mutations inGATA2are associated with GATA2 deficiency syndrome, whereas 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,GATA1andGATA2.
Division of Hematology/Oncology, Northwestern University, Chicago, IL; and.
John D
JD
Crispino
Department of Pathology, University of Washington School of Medicine, Seattle, WA.
Marshall S
MS
Horwitz
D029503:Anemia, Diamond-Blackfan / Q000235:genetics / Q000378:metabolism; D000818:Animals; D050982:GATA1 Transcription Factor / Q000235:genetics / Q000378:metabolism; D050989:GATA2 Transcription Factor / Q000235:genetics / Q000378:metabolism; D006402:Hematologic Diseases / Q000235:genetics / Q000378:metabolism; D006410:Hematopoiesis; D006801:Humans; D009154:Mutation
D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human