Ontology highlight
ABSTRACT:
SUBMITTER: Soukup AA
PROVIDER: S-EPMC6391105 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Soukup Alexandra A AA Zheng Ye Y Mehta Charu C Wu Jun J Liu Peng P Cao Miao M Hofmann Inga I Zhou Yun Y Zhang Jing J Johnson Kirby D KD Choi Kyunghee K Keles Sunduz S Bresnick Emery H EH
The Journal of clinical investigation 20190211 3
The development and function of stem and progenitor cells that produce blood cells are vital in physiology. GATA-binding protein 2 (GATA2) mutations cause GATA-2 deficiency syndrome involving immunodeficiency, myelodysplastic syndrome, and acute myeloid leukemia. GATA-2 physiological activities necessitate that it be strictly regulated, and cell type-specific enhancers fulfill this role. The +9.5 intronic enhancer harbors multiple conserved cis-elements, and germline mutations of these cis-eleme ...[more]