Codanin-1, defective in congenital dyserythropoietic anemia I (CDA-I), regulates erythroid differentiation.

ABSTRACT:

Background

Congenital dyserythropoietic anemia type I (CDA-I) is an autosomal recessive disorder marked by ineffective erythropoiesis, abnormal morphology of bone marrow erythroblasts, and iron overload. Most cases of CDA-I are caused by mutations in the CDAN1 gene, which encodes a ubiquitous protein of unknown function, Codanin-1.

Methods

To investigate the role of Codanin-1 in the molecular pathways involved in CDA-I, we developed erythroid models using human K562 cells and primary human CD34 + cells from mobilized peripheral blood.

Results

Here we show that Codanin-1 expression is required for erythroid progenitor development and normal erythroid cell differentiation. Erythroid cells lacking Codanin-1 demonstrated morphologic changes similar to those observed in CD

SUBMITTER: Bosques L 

PROVIDER: S-EPMC12619753 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature