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GATA factor mutations in hematologic disease.

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.

journal_name

Blood

journal_title

Blood

authors

Crispino JD,Horwitz MS

doi

10.1182/blood-2016-09-687889

subject

Has Abstract

pub_date

2017-04-13 00:00:00

pages

2103-2110

issue

15

eissn

0006-4971

issn

1528-0020

pii

blood-2016-09-687889

journal_volume

129

pub_type

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