ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2012
The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 59 citations in OpenAlex.
- Review
- CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids.CNS neuroscience & therapeutics · 2026Article
- Müller Glia-Exclusive CLRN1 Expression Drives Non-Cell-Autonomous Photoreceptor Degeneration in Usher Syndrome Type 3A.Investigative ophthalmology & visual science · 2026Article
- Molecular identity of the mechanotransduction machinery in inner ear hair cells and mechanotransduction-linked hearing loss.Fundamental research · 2026Review
- Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Article
- The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.PLoS genetics · 2025Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.bioRxiv : the preprint server for biology · 2024Article
- Mechanoelectrical transduction-related genetic forms of hearing loss.Current opinion in physiology · 2023Article
- Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.Translational vision science & technology · 2023Article
- Charge and lipophilicity are required for effective block of the hair-cell mechano-electrical transducer channel by FM1-43 and its derivatives.Frontiers in cell and developmental biology · 2023Article
- Liquid-liquid phase separation in hair cell stereocilia development and maintenance.Computational and structural biotechnology journal · 2023Review
- Review
- Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.Investigative ophthalmology & visual science · 2022Article
- Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.Human genetics · 2022Review
- Usher Syndrome.Audiology research · 2022Review
- Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions.Frontiers in neurology · 2022Review
- Retinal Gene Therapy for Usher Syndrome: Current Developments, Challenges, and Perspectives.International ophthalmology clinics · 2021Article
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Authors and funding
13 authors at 7 institutions in 3 countries.
Funding
Abstract
Mutation in the clarin-1 gene (Clrn1) results in loss of hearing and vision in humans (Usher syndrome III), but the role of clarin-1 in the sensory hair cells is unknown. Clarin-1 is predicted to be a four transmembrane domain protein similar to members of the tetraspanin family. Mice carrying null mutation in the clarin-1 gene (Clrn1(-/-)) show loss of hair cell function and a possible defect in ribbon synapse. We investigated the role of clarin-1 using various in vitro and in vivo approaches. We show by immunohistochemistry and patch-clamp recordings of Ca(2+) currents and membrane capacitance from inner hair cells that clarin-1 is not essential for formation or function of ribbon synapse. However, reduced cochlear microphonic potentials, FM1-43 [N-(3-triethylammoniumpropyl)-4-(4-(dibutylamino)styryl) pyridinium dibromide] loading, and transduction currents pointed to diminished cochlear hair bundle function in Clrn1(-/-) mice. Electron microscopy of cochlear hair cells revealed loss of some tall stereocilia and gaps in the v-shaped bundle, although tip links and staircase arrangement of stereocilia were not primarily affected by Clrn1(-/-) mutation. Human clarin-1 protein expressed in transfected mouse cochlear hair cells localized to the bundle; however, the pathogenic variant p.N48K failed to localize to the bundle. The mouse model generated to study the in vivo consequence of p.N48K in clarin-1 (Clrn1(N48K)) supports our in vitro and Clrn1(-/-) mouse data and the conclusion that CLRN1 is an essential hair bundle protein. Furthermore, the ear phenotype in the Clrn1(N48K) mouse suggests that it is a valuable model for ear disease in CLRN1(N48K), the most prevalent Usher syndrome III mutation in North America.
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