ArticleEMBO molecular medicine2014
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.
Article in EMBO molecular medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 77 citations in OpenAlex.
- Cryo-EM reveals a right-handed double-helix dimer architecture of PCDH15.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Tonotopic specialization of MYO7A isoforms in auditory hair cells.Nature communications · 2026Article
- Overlapping expression and co-operative function of the zebrafish pcdh15 paralogs.Communications biology · 2026Article
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- Compensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Genetic diversity of Usher syndrome in Moroccan patients.Human genetics · 2026Article
- Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The bidirectional interplay between RNA processing and mechanotransduction.Cell reports · 2025Review
- Role of Pcdh15 in the development of intrinsic polarity of inner ear hair cells.PLoS genetics · 2025Article
- SHANK2 establishes auditory hair bundle architecture essential for mammalian hearing.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Outcomes of cochlear implants in patients withFrontiers in genetics · 2025Article
- LOXHD1 is indispensable for maintaining TMC1 auditory mechanosensitive channels at the site of force transmission.Nature communications · 2024Article
- LOXHD1 is indispensable for coupling auditory mechanosensitive channels to the site of force transmission.Research square · 2024Article
- TMTC4 is a hair cell-specific human deafness gene.JCI insight · 2023Article
- Rescue of hearing by adenine base editing in a humanized mouse model of Usher syndrome type 1F.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.Nature communications · 2023Article
- The tetraspan LHFPL5 is critical to establish maximal force sensitivity of the mechanotransduction channel of cochlear hair cells.Cell reports · 2023Article
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- Selective binding and transport of protocadherin 15 isoforms by stereocilia unconventional myosins in a heterologous expression system.Scientific reports · 2022Article
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Authors and funding
16 authors at 9 institutions in 3 countries.
Funding
Abstract
Protocadherin-15 (Pcdh15) is a component of the tip-links, the extracellular filaments that gate hair cell mechano-electrical transduction channels in the inner ear. There are three Pcdh15 splice isoforms (CD1, CD2 and CD3), which only differ by their cytoplasmic domains; they are thought to function redundantly in mechano-electrical transduction during hair-bundle development, but whether any of these isoforms composes the tip-link in mature hair cells remains unknown. By immunolabelling and both morphological and electrophysiological analyses of post-natal hair cell-specific conditional knockout mice (Pcdh15ex38-fl/ex38-fl Myo15-cre+/-) that lose only this isoform after normal hair-bundle development, we show that Pcdh15-CD2 is an essential component of tip-links in mature auditory hair cells. The finding, in the homozygous or compound heterozygous state, of a PCDH15 frameshift mutation (p.P1515Tfs*4) that affects only Pcdh15-CD2, in profoundly deaf children from two unrelated families, extends this conclusion to humans. These results provide key information for identification of new components of the mature auditory mechano-electrical transduction machinery. This will also serve as a basis for the development of gene therapy for deafness caused by PCDH15 defects.
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