TY - JOUR
T1 - GATA factor mutations in hematologic disease
AU - Crispino, John D.
AU - Horwitz, Marshall S.
N1 - Funding Information:
This work was supported by grants from the National Institutes of Health National Institute of Diabetes and Digestive and Kidney Diseases (R01 DK101329) (J.D.C.), National Cancer Institute (R01 CA101774) (J.D.C.), and National Heart, Lung, and Blood Institute (R01 HL130472) (M.S.H.).
PY - 2017/4/13
Y1 - 2017/4/13
N2 - 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 GATA1mutations 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.
AB - 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 GATA1mutations 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.
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U2 - 10.1182/blood-2016-09-687889
DO - 10.1182/blood-2016-09-687889
M3 - Review article
C2 - 28179280
AN - SCOPUS:85018863155
VL - 129
SP - 2103
EP - 2110
JO - Blood
JF - Blood
SN - 0006-4971
IS - 15
ER -