Genetic and functional insights into CDA-I prevalence and pathogenesis.

ABSTRACT:

Background

Congenital dyserythropoietic anaemia type I (CDA-I) is a hereditary anaemia caused by biallelic mutations in the widely expressed genes CDAN1 and C15orf41. Little is understood about either protein and it is unclear in which cellular pathways they participate.

Methods

Genetic analysis of a cohort of patients with CDA-I identifies novel pathogenic variants in both known causative genes. We analyse the mutation distribution and the predicted structural positioning of amino acids affected in Codanin-1, the protein encoded by CDAN1. Using western blotting, immunoprecipitation and immunofluorescence, we determine the effect of particular mutations on both proteins and interrogate protein interaction, stability and subcellular localisation.

Resul

SUBMITTER: Olijnik AA 

PROVIDER: S-EPMC7613268 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature