2017
DOI: 10.1182/blood-2016-09-687889
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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 thrombocyt… Show more

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Cited by 167 publications
(146 citation statements)
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References 112 publications
(73 reference statements)
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“…In both the deletion cells and cells overexpressing HOXA13, GATA2 is upregulated. GATA2 is a factor normally involved in hematopoiesis and mutations in GATA2 are seen in myelodysplastic syndrome, acute myeloid leukemia, and chronic myeloid leukemia (Crispino and Horwitz, 2017). However, GATA2 is also associated with prostate cancer (Chiang et al, 2014; Crispino and Horwitz, 2017; He et al, 2014; Xiao et al, 2016).…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…In both the deletion cells and cells overexpressing HOXA13, GATA2 is upregulated. GATA2 is a factor normally involved in hematopoiesis and mutations in GATA2 are seen in myelodysplastic syndrome, acute myeloid leukemia, and chronic myeloid leukemia (Crispino and Horwitz, 2017). However, GATA2 is also associated with prostate cancer (Chiang et al, 2014; Crispino and Horwitz, 2017; He et al, 2014; Xiao et al, 2016).…”
Section: Discussionmentioning
confidence: 99%
“…GATA2 is a factor normally involved in hematopoiesis and mutations in GATA2 are seen in myelodysplastic syndrome, acute myeloid leukemia, and chronic myeloid leukemia (Crispino and Horwitz, 2017). However, GATA2 is also associated with prostate cancer (Chiang et al, 2014; Crispino and Horwitz, 2017; He et al, 2014; Xiao et al, 2016). GATA2 is considered to be a pioneer transcription factor that facilitates coactivator recruitment to the androgen receptor transcription complex to regulate a key set of genes related to prostate cancer.…”
Section: Discussionmentioning
confidence: 99%
“…GATA1 is the founding member of a family of transcription factors which bind the consensus sequence GATA (hence their name) present in the regulatory regions of all the erythroid-specific genes including the erythropoietin (EPO) receptor (EPO-R) and Gata1 itself [1,2]. The members of this family are characterized by a highly conserved tertiary structure which include an NH- terminal domain, that may establish association with the retinoblastoma protein [3], two DNA-binding zinc finger domains, the NH-terminal zinc finger which binds DNA with the transcription factor friend of GATA1 (FOG-1) as obligatory partner, and the COOH-terminal zinc finger which binds DNA directly and whose binding activity is inhibited by association with the myeloid-specific purine-rich binding box 1 (PU-1) transcription factor.…”
Section: Introductionmentioning
confidence: 99%
“…X-linked dyserythropoietic anemia and/or thrombocytopenia was reported in several families (Freson et al 2001;Mehaffey et al 2001;Nichols et al 2002;Yu et al 2002b;Balduini et al 2004;Phillips et al 2007;Tubman et al 2007;Ludwig et al 2014;Gao et al 2015;Crispino and Horwitz 2017). Whereas all related mutations concentrate in the N-terminal zinc finger of GATA-1, clinical phenotypes vary among patients (Fig.…”
Section: Gata-1 Mutations In Inherited and Acquired Hematological Dismentioning
confidence: 99%
“…While G208S is associated with thrombocytopenia (Massey et al 2006) and R216Q is linked to thrombocytopenia and beta thalassemia (Yu et al 2002b, Balduini et al 2004Tubman et al 2007), R216W leads to congenial erythropoietic porphyria (Di Pierro et al 2015). All mutations in the N-terminal zinc finger of GATA-1, except for R216 which interferes with DNA binding (Yu et al 2002b), disrupt FOG1 interaction (Crispino and Horwitz 2017). While these mutations could affect the interaction of GATA-1 with TAL1, the contribution of TAL1 and its interacting partners to the various clinical phenotypes of X-linked dyserythropoietic anemia and/or thrombocytopenia remains to be elucidated.…”
Section: Gata-1 Mutations In Inherited and Acquired Hematological Dismentioning
confidence: 99%