Ontology highlight
ABSTRACT:
SUBMITTER: Sankaran VG
PROVIDER: S-EPMC3444733 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Genes & development 20120828 18
Genome-wide association studies (GWASs) have identified a genetic variant of moderate effect size at 6p21.1 associated with erythrocyte traits in humans. We show that this variant affects an erythroid-specific enhancer of CCND3. A Ccnd3 knockout mouse phenocopies these erythroid phenotypes, with a dramatic increase in erythrocyte size and a concomitant decrease in erythrocyte number. By examining human and mouse primary erythroid cells, we demonstrate that the CCND3 gene product cyclin D3 regula ...[more]