Interactome analysis of FAM50A via affinity purification coupled to mass spectrometry

ABSTRACT: FAM50A missense variants are present in Armfield XLID syndrome patients. Zebrafish lacking fam50a display related phenotypes and show dysregulation of the transcriptome, increased spliceosome mRNAs and a preponderance of 3’ alternative splicing events, suggesting a role for Fam50a in the spliceosome C complex. Fam50A protein-protein interaction studies show that in 293T cells FAM50A interacts with spliceosome components. In sum, aberrant mRNA processing caused by FAM50A mutation underpins Armfield XLID syndrome.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Hek-293t Cell

SUBMITTER: James Wright  

LAB HEAD: Jyoti Choudhary

PROVIDER: PXD017642 | Pride | 2020-05-08

REPOSITORIES: Pride