A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.

ABSTRACT: Sensory hair cells are essential for hearing and balance. Their development from epithelial precursors has been extensively characterized with respect to transcriptional regulation, but not in terms of posttranscriptional influences. Here we report on the identification and functional characterization of an alternative-splicing regulator whose inactivation is responsible for defective hair-cell development, deafness, and impaired balance in the spontaneous mutant Bronx waltzer (bv) mouse. We used positional cloning and transgenic rescue to locate the bv mutation to the splicing factor-encoding gene Ser/Arg repetitive matrix 4 (Srrm4). Transcriptome-wide analysis of pre-mRNA splicing in the sensory patches of embryonic inner ears revealed that specific alternative exons were skipped at abno

SUBMITTER: Nakano Y 

PROVIDER: S-EPMC3464207 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature