ArticleHuman molecular genetics2015
A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 18 citations in OpenAlex.
- Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.Molecular & cellular proteomics : MCP · 2026Article
- Article
- Cochlear transcript diversity and its role in auditory functions implied by an otoferlin short isoform.Nature communications · 2023Article
- Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina.Scientific reports · 2023Article
- Vestibular Hair Cells Require CAMSAP3, a Microtubule Minus-End Regulator, for Formation of Normal Kinocilia.Frontiers in cellular neuroscience · 2022Article
- Progress in protecting vestibular hair cells.Archives of toxicology · 2021Review
- Effects of Neurod1 Expression on Mouse and Human Schwannoma Cells.The Laryngoscope · 2021Article
- Knockdown ofAging · 2020Article
- Lack of PDZD7 long isoform disrupts ankle-link complex and causes hearing loss in mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.Hearing research · 2019Review
- Effect of M-current modulation on mammalian vestibular responses to transient head motion.Journal of neurophysiology · 2017Article
- Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide.Human molecular genetics · 2017Article
- Noise-induced cochlear synaptopathy in rhesus monkeys (Macaca mulatta).Hearing research · 2017Article
- Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.Molecular therapy : the journal of the American Society of Gene Therapy · 2017Article
- The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.Human molecular genetics · 2017Article
- Electrophysiological Measurements of Peripheral Vestibular Function-A Review of Electrovestibulography.Frontiers in systems neuroscience · 2017Review
- Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia.Cell reports · 2016Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
The DFNB31 gene plays an indispensable role in the cochlea and retina. Mutations in this gene disrupt its various isoforms and lead to non-syndromic deafness, blindness and deaf-blindness. However, the known expression of Dfnb31, the mouse ortholog of DFNB31, in vestibular organs and the potential vestibular-deficient phenotype observed in one Dfnb31 mutant mouse (Dfnb31(wi/wi)) suggest that DFNB31 may also be important for vestibular function. In this study, we find that full-length (FL-) and C-terminal (C-) whirlin isoforms are expressed in the vestibular organs, where their stereociliary localizations are similar to those of developing cochlear inner hair cells. No whirlin is detected in Dfnb31(wi/wi) vestibular organs, while only C-whirlin is expressed in Dfnb31(neo/neo) vestibular organs. Both FL- and C-whirlin isoforms are required for normal vestibular stereociliary growth, although they may play slightly different roles in the central and peripheral zones of the crista ampullaris. Vestibular sensory-evoked potentials demonstrate severe to profound vestibular deficits in Dfnb31(neo/neo) and Dfnb31(wi/wi) mice. Swimming and rotarod tests demonstrate that the two Dfnb31 mutants have balance problems, with Dfnb31(wi/wi) mice being more affected than Dfnb31(neo/neo) mice. Because Dfnb31(wi/wi) and Dfnb31(neo/neo) mice faithfully recapitulate hearing and vision symptoms in patients, our findings of vestibular dysfunction in these Dfnb31 mutants raise the question of whether DFNB31-deficient patients may acquire vestibular as well as hearing and vision loss.
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