Germline GATA2 mutation and bone marrow failure

LJ McReynolds, KR Calvo… - Hematology/Oncology …, 2018 - hemonc.theclinics.com
GATA2 encodes a zinc finger transcription factor necessary for normal hematopoiesis
located on chromosome 3q21. 2. The protein contains 2 zinc fingers and a nuclear
localization signal. GATA2 binds to the consensus sequence W/GATA/R (W 5 A or T and R 5
A or G) in promoter/enhancer regions of target genes including SPI1 (PU. 1), LMO2, TAL1,
FLI1, and RUNX1 to regulate endothelial to hematopoietic transition in the early embryo, the
formation of hematopoietic stem cells (HSCs) and definitive hematopoiesis. 1 In the adult …