title: GATA transcription factors in hematologic disease.
abstract: GATA family transcription factors play essential roles in broad developmental settings. GATA-1, one of the hematopoietically expressed members, is required for normal erythroid and megakaryocytic differentiation. Over the past few years, mutations in the gene encoding GATA-1 have been linked to several human hematologic disorders, including X-linked dyserythropoietic anemia and thrombocytopenia, X-linked thrombocytopenia and beta-thalassemia, and Down syndrome acute megakaryoblastic leukemia. This review summarizes the role of GATA-1 during normal hematopoiesis and discusses how disease-associated mutations may affect its function.
authors.affiliation: Division of Pediatric Hematology/Oncology, Children's Hospital Boston, Boston, Massachusetts 02115, USA. alan.cantor@childrens.harvard.edu
authors.forename: Alan B
authors.initials: AB
authors.lastname: Cantor
mesh_terms: D000740:Anemia / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics / Q000502:physiology*; D050981:Erythroid-Specific DNA-Binding Factors; D050982:GATA1 Transcription Factor; D006402:Hematologic Diseases / Q000209:etiology / Q000235:genetics*; D006410:Hematopoiesis; D006801:Humans; D007938:Leukemia / Q000235:genetics; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology*
chemical_list: D004268:DNA-Binding Proteins; D050981:Erythroid-Specific DNA-Binding Factors; D050982:GATA1 Transcription Factor; C494688:GATA1 protein, human; D014157:Transcription Factors