Loss-of-function of RNA-binding protein PRRC2B causes translational defects and congenital cardiovascular malformation.

ABSTRACT: Alternative splicing generates variant forms of proteins for a given gene and accounts for functional redundancy or diversification. A novel RNA-binding protein, Pro-rich Coiled-coil Containing Protein 2B (PRRC2B), has been reported by multiple laboratories to mediate uORF-dependent and independent regulation of translation initiation required for cell cycle progression and proliferation. We identified two alternative spliced isoforms in human and mouse hearts and HEK293T cells, full-length (FL) and exon 16-excluded isoform ΔE16. A congenital heart disease-associated human mutation-mimicry knock-in of the equivalent variant in the mouse genome leads to the depletion of the full-length Prrc2b mRNA but not the alternative spliced truncated form ΔE16, does not cause any apparent struct

SUBMITTER: Das D 

PROVIDER: S-EPMC11469349 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature