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Article

Gata2 noncoding genetic variation as a determinant of hematopoietic stem/progenitor cell mobilization efficiency.

Blood advances - 26 Dec 2023

Soukup Alexandra A, Bresnick Emery H

Abstract excerpt

Germline genetic variants alter the coding and enhancer sequences of GATA2, which encodes a master regulator of hematopoiesis. The conserved murine Gata2 enhancer (+9.5) promotes hematopoietic stem cell (HSC) genesis during embryogenesis. Heterozygosity for a single-nucleotide Ets motif variant in the human enhancer creates a bone marrow failure and acute myeloid leukemia predisposition termed GATA2 deficiency...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37871305
DOI: 10.1182/bloodadvances.2023011003
PMCID: PMC10761364

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