Ontology highlight
ABSTRACT:
SUBMITTER: Soukup AA
PROVIDER: S-EPMC8664263 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
Soukup Alexandra A AA Matson Daniel R DR Liu Peng P Johnson Kirby D KD Bresnick Emery H EH
Science advances 20211210 50
Human genetic variants are classified on the basis of potential pathogenicity to guide clinical decisions. However, mechanistic uncertainties often preclude definitive categorization. Germline coding and enhancer variants within the hematopoietic regulator <i>GATA2</i> create a bone marrow failure and leukemia predisposition. The conserved murine enhancer promotes hematopoietic stem cell (HSC) genesis, and a single-nucleotide human variant in an Ets motif attenuates chemotherapy-induced hematopo ...[more]