Cochlear transcript diversity and its role in auditory functions implied by an otoferlin short isoform
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Le résumé fourni par la source
Isoforms of a gene may contribute to diverse biological functions. In the cochlea, the repertoire of alternative isoforms remains unexplored. We integrated single-cell short-read and long-read RNA sequencing techniques and identified 236,012 transcripts, 126,612 of which were unannotated in the GENCODE database. Then we analyzed and verified the unannotated transcripts using RNA-seq, RT-PCR, Sanger sequencing, and MS-based proteomics approaches. To illustrate the importance of identifying spliced isoforms, we investigated otoferlin, a key protein involved in synaptic transmission in inner hair cells (IHCs). Upon deletion of the canonical otoferlin isoform, the identified short isoform is able to support normal hearing thresholds but with reduced sustained exocytosis of IHCs, and further revealed otoferlin functions in endocytic membrane retrieval that was not well-addressed previously. Furthermore, we found that otoferlin isoforms are associated with IHC functions and auditory phenotypes. This work expands our mechanistic understanding of auditory functions at the level of isoform resolution.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Cochlear transcript diversity and its role in auditory functions implied by an otoferlin short isoform
- Date Crossref
- 29/05/2023
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Shanghai Jiao Tong University Department of Otolaryngology-Head and Neck Surgery pays non établi dans la noticeUniversité ou école supérieure
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Shanghai Ninth People's Hospital pays non établi dans la noticeÉtablissement de santé
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Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases pays non établi dans la noticeStructure de recherche
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Second Military Medical University Department of Otolaryngology-Head and Neck Surgery pays non établi dans la noticeUniversité ou école supérieure
Department of Otolaryngology-Head and Neck Surgery — Shanghai Jiao Tong University, Shanghai Ninth People's Hospital et Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, avec 1 autre affiliation.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.