| Literature DB >> 32887533 |
Longqing Zheng1, Huijun Yuan2, Mengkai Zhang1, Cuicui Wang2, Xuemin Cai1, Jing Liu1,3, Xiu Qin Xu1.
Abstract
Tissue-specific alternative splicing (AS) is emerging as one of the most exciting types of mechanisms associated with organ development and disease. In the auditory system, many hearing-related genes undergo AS, and errors in this process result in syndromic or non-syndromic hearing loss. However, little is known about the factors and mechanisms directing AS in the inner ear. In the present study, we identified a novel RNA-binding protein, Rbm24, which was critically involved in regulating inner-ear-specific AS. Rbm24 deletion resulted in hearing loss and defects in motor coordination. Global splicing analysis showed Rbm24 was required for correct splicing of a subset of pre-mRNA transcripts with essential roles in stereocilia integrity and survival of hair cells. Furthermore, we identified that Rbm24 directly regulated the splicing of Cdh23, a known disease gene responsible for human Usher syndrome 1D and non-syndromic autosomal recessive deafness DFNB12. In conclusion, our findings demonstrated that Rbm24 was a critical factor in regulating inner-ear-specific splicing and maintaining the hearing and motor coordination function of the inner ear. Our data not only offer mechanistic insights but also provide functional annotation of Rbm24 splicing targets that contribute to hearing loss.Entities:
Keywords: RNA binding protein; Rbm24; alternative splicing; hair cells; hearing loss; motor coordination; stereocilia
Year: 2020 PMID: 32887533 PMCID: PMC7971244 DOI: 10.1080/15476286.2020.1817265
Source DB: PubMed Journal: RNA Biol ISSN: 1547-6286 Impact factor: 4.652