Alternative splicing of the Rbm24 gene is essential for cochlear hair cell stereocilia integrity and hearing function in mice - PubMed
2 hours ago
- #hearing loss
- #cochlear hair cells
- #alternative splicing
- Rbm24 gene undergoes alternative splicing involving exon 4, producing a short isoform (RBM24-S) via premature stop.
- Deletion of Rbm24 exon 4 in mice eliminates RBM24-S expression and causes severe hearing loss, stereocilia disorganization, and hair cell loss.
- RBM24 isoforms (long and short) bind distinct mRNA targets to regulate splicing/stability, with dysregulation (e.g., in Strc) contributing to hearing deficits.
- Overexpression of the canonical long isoform (RBM24-L) also leads to stereocilia defects and hearing loss, highlighting the importance of balanced RBM24 expression.