ArticleHuman molecular genetics2009
Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 83 citations in OpenAlex.
- 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
- 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
- The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.bioRxiv : the preprint server for biology · 2024Article
- Functional, Morphological and Molecular Changes Reveal the Mechanisms Associated with Age-Related Vestibular Loss.Biomolecules · 2023Article
- Mechanoelectrical transduction-related genetic forms of hearing loss.Current opinion in physiology · 2023Article
- Review
- Dynamic lipid turnover in photoreceptors and retinal pigment epithelium throughout life.Progress in retinal and eye research · 2022Review
- Repair of surviving hair cells in the damaged mouse utricle.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.Human genetics · 2022Review
- Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.Investigative ophthalmology & visual science · 2022Article
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022Review
- Usher Syndrome.Audiology research · 2022Review
- Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions.Frontiers in neurology · 2022Review
- A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens.BMC medicine · 2021Article
- Review
- Retinal Gene Therapy for Usher Syndrome: Current Developments, Challenges, and Perspectives.International ophthalmology clinics · 2021Article
- Usher Syndrome: Genetics of a Human Ciliopathy.International journal of molecular sciences · 2021Review
- Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
Abstract
Usher syndrome 3A (USH3A) is an autosomal recessive disorder characterized by progressive loss of hearing and vision due to mutation in the clarin-1 (CLRN1) gene. Lack of an animal model has hindered our ability to understand the function of CLRN1 and the pathophysiology associated with USH3A. Here we report for the first time a mouse model for ear disease in USH3A. Detailed evaluation of inner ear phenotype in the Clrn1 knockout mouse (Clrn1(-/-)) coupled with expression pattern of Clrn1 in the inner ear are presented here. Clrn1 was expressed as early as embryonic day 16.5 in the auditory and vestibular hair cells and associated ganglionic neurons, with its expression being higher in outer hair cells (OHCs) than inner hair cells. Clrn1(-/-) mice showed early onset hearing loss that rapidly progressed to severe levels. Two to three weeks after birth (P14-P21), Clrn1(-/-) mice showed elevated auditory-evoked brainstem response (ABR) thresholds and prolonged peak and interpeak latencies. By P21, approximately 70% of Clrn1(-/-) mice had no detectable ABR and by P30 these mice were deaf. Distortion product otoacoustic emissions were not recordable from Clrn1(-/-) mice. Vestibular function in Clrn1(-/-) mice mirrored the cochlear phenotype, although it deteriorated more gradually than cochlear function. Disorganization of OHC stereocilia was seen as early as P2 and by P21 OHC loss was observed. In sum, hair cell dysfunction and prolonged peak latencies in vestibular and cochlear evoked potentials in Clrn1(-/-) mice strongly indicate that Clrn1 is necessary for hair cell function and associated neural activation.
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