Research

RNA-Binding Protein in DCM

Dilated cardiomyopathy (DCM) is a disease in which the heart becomes enlarged and no longer pumps blood effectively. Autosomal-dominant familial DCM is linked to mutations in a variety of genes including a splicing regulator RBM20.


We reported for the first time that phosphorylation of the two serine residues in an RSRSP stretch, a hotspot of the DCM mutations in the RBM20 gene, were essential for nuclear localization, which allows RBM20 to interact with its target pre-mRNAs (Sci Rep, 2018; Front Mol Biosci, 2018).