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Blood. 2017 Apr 13;129(15):2103-2110. doi: 10.1182/blood-2016-09-687889. Epub 2017 Feb 8.

GATA factor mutations in hematologic disease.

Author information

1
Division of Hematology/Oncology, Northwestern University, Chicago, IL; and.
2
Department of Pathology, University of Washington School of Medicine, Seattle, WA.

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. Conversely, germ line mutations in GATA2 are 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, GATA1 and GATA2.

PMID:
28179280
PMCID:
PMC5391620
DOI:
10.1182/blood-2016-09-687889
[Indexed for MEDLINE]
Free PMC Article

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