RUN(X) out of blood: emerging RUNX1 functions beyond hematopoiesis and links to Down syndrome.

ABSTRACT:

Background

RUNX1 is a transcription factor and a master regulator for the specification of the hematopoietic lineage during embryogenesis and postnatal megakaryopoiesis. Mutations and rearrangements on RUNX1 are key drivers of hematological malignancies. In humans, this gene is localized to the 'Down syndrome critical region' of chromosome 21, triplication of which is necessary and sufficient for most phenotypes that characterize Trisomy 21.

Main body

Individuals with Down syndrome show a higher predisposition to leukemias. Hence, RUNX1 overexpression was initially proposed as a critical player on Down syndrome-associated leukemogenesis. Less is known about the functions of RUNX1 in other tissues and organs, although growing reports show important implications in development

SUBMITTER: Rozen EJ 

PROVIDER: S-EPMC10481493 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature