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Genomes and Genes
| Pcdh15SummaryGene Symbol: Pcdh15 Description: protocadherin 15 Alias: BB078305, ENSMUSG00000046980, Gm9815, Ush1f, nmf19, Ames waltzer, protocadherin 15 CD2, protocadherin 15 CD3 isoform, protocadherin-15 Species: mouse Top Publications
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Publications
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15Zubair M Ahmed
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA
J Neurosci 26:7022-34. 2006..Protocadherin-15 is therefore associated with the tip-link complex and may be an integral component of this structure and/or required for its formation...
A new spontaneous mutation in the mouse protocadherin 15 geneQ Y Zheng
Otolaryngology Head and Neck Surgery, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106, USA
Hear Res 219:110-20. 2006We have characterized a new allele of the protocadherin 15 gene (designatedPcdh15(av-6J)) that arose as a spontaneous, recessive mutation in the C57BL/6J inbred strain at Jackson Laboratory...- Development and regeneration of sensory transduction in auditory hair cells requires functional interaction between cadherin-23 and protocadherin-15Andrea Lelli
Departments of Neuroscience and Otolaryngology, University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA
J Neurosci 30:11259-69. 2010..by calcium-dependent interactions between the N-terminal domains of cadherin-23 (CDH23) and protocadherin-15 (PCDH15)... - Progression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell developmentKaren S Pawlowski
Department of Otolaryngology Head and Neck Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390 9035, USA
J Assoc Res Otolaryngol 7:83-94. 2006The Ames waltzer (av) mouse mutant exhibits auditory and vestibular abnormalities resulting from mutation of protocadherin 15 (Pcdh15)... - Interactions in the network of Usher syndrome type 1 proteinsAvital Adato
Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
Hum Mol Genet 14:347-56. 2005Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1)... - Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cellsPiotr Kazmierczak
The Scripps Research, Institute Department of Cell Biology, La Jolla, California 92037, USA
Nature 449:87-91. 2007..Immunohistochemical studies using rodent hair cells show that cadherin 23 (CDH23) and protocadherin 15 (PCDH15) localize to the upper and lower part of tip links, respectively... - Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C)Jan Reiners
Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Mainz, Germany
Mol Vis 11:347-55. 2005..The aim of the present study was to analyze whether or not the fifth identified USH1 protein protocadherin 15 (Pcdh15) also binds to harmonin and where these putative protein complexes might be localized in mammalian .. - Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cellsMathias Senften
Department of Cell Biology, The Scripps Research Institute, Institute for Childhood and Neglected Disease, La Jolla, California 92037, USA
J Neurosci 26:2060-71. 2006..We link here two gene products that have been associated with deafness and hair bundle defects, protocadherin 15 (PCDH15) and myosin VIIa (MYO7A), into a common pathway... - Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher diseaseJan Reiners
Institute of Zoology, Department of Cell and Matrix Biology, Johannes Gutenberg University of Mainz, Müllerweg 6, D 55099 Mainz, Germany
Exp Eye Res 83:97-119. 2006..molecular motor myosin VIIa (USH1B); the two cell-cell adhesion cadherin proteins, cadherin 23 (USH1D) and protocadherin 15, (USH1F) and the scaffold proteins, harmonin (USH1C) and SANS (USH1G)... - Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcriptsRicky J L Haywood-Watson
National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20850, and the Molecular and Cellular Biology Program, Tulane University, New Orleans, LA, USA
Invest Ophthalmol Vis Sci 47:3074-84. 2006Mutations of PCDH15, the gene encoding protocadherin 15, cause either nonsyndromic deafness DFNB23 or Usher syndrome type 1F (USH1F) in humans and deafness with balance problems in Ames waltzer (av) mice... - Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humansQing Yin Zheng
Jackson Laboratory, Bar Harbor, ME 04609, USA
Hum Mol Genet 14:103-11. 2005Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans... - PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23Zubair M Ahmed
Section of Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
Hum Mol Genet 12:3215-23. 2003Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F)... - A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15Lori L Hampton
G Protein Coupled Receptors Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Hear Res 180:67-75. 2003..As shown by complementation testing, the new mutation is allelic with Ames waltzer (Pcdh15(av))... - The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin geneK N Alagramam
Department of Pediatrics, Rainbow Babies and Children s Hospital, Case Western Reserve University, Cleveland, Ohio, USA
Nat Genet 27:99-102. 2001..Mutations affecting these neuroepithelia cause deafness and vestibular dysfuction in humans. Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the .. - Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1FK N Alagramam
Department of Pediatrics, Rainbow Babies and Children s Hospital, University Hospitals of Cleveland, Case Western Reserve University, Cleveland, OH, USA
Hum Mol Genet 10:1709-18. 2001..By fluorescence in situ hybridization, we placed the human homolog of the mouse protocadherin Pcdh15 in the linkage interval defined by the USH1F locus... - Tonotopic gradient in the developmental acquisition of sensory transduction in outer hair cells of the mouse cochleaAndrea Lelli
Department of Neuroscience, University of Virginia School of Medicine, Charlottesville, Virginia 22908 1392, USA
J Neurophysiol 101:2961-73. 2009..We found spatiotemporal expression patterns for mRNA that encodes cadherin 23, protocadherin 15, myosins 3a, 7a, 15a, and PMCA2 that preceded the acquisition of transduction... - Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereociliaElisa Caberlotto
Unite de Genetique et Physiologie de l Audition, Institut Pasteur, 75724 Paris Cedex 15, France
Proc Natl Acad Sci U S A 108:5825-30. 2011..They are made of cadherin-23 and protocadherin-15, products of the Usher syndrome type 1 genes USH1D and USH1F, respectively... - Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domainStuart W Webb
Dorris Neuroscience Center and Department of Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
Development 138:1607-17. 2011b>Protocadherin 15 (PCDH15) is expressed in hair cells of the inner ear and in photoreceptors of the retina. Mutations in PCDH15 cause Usher Syndrome (deaf-blindness) and recessive deafness... - Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout miceDenise Yan
Department of Otolaryngology, University of Miami, Miami, FL, USA
Int J Exp Pathol 92:66-71. 2011..Our data indicate that the disassembly of the USH1 network caused by absence of harmonin may have led to the mis-localization of the Protocadherin 15 and Sans proteins in the cochlear hair cells of Ush1c(-/-) knockout mice. - Two quantitative trait loci affecting progressive hearing loss in 101/H miceTomoji Mashimo
Departement de Biologie du Developpement, Institut Pasteur, Paris, France
Mamm Genome 17:841-50. 2006..Finally, we found some evidence of epistatic interaction between Phl1 and Phl2... - Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1FMark R Chance
Center for Proteomics and Bioinformatics, School of Medicine, Case Western Reserve University, 10900 Euclid Ave, Cleveland, OH 44106, USA
Hum Mol Genet 19:1515-27. 2010Proteins and protein networks associated with cochlear pathogenesis in the Ames waltzer (av) mouse, a model for deafness in Usher syndrome 1F (USH1F), were identified... - Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouseAlfredo Calderon
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
Hear Res 221:44-58. 2006..Genome-wide linkage scans of backcross, intercross, and congenic progeny revealed a complex pattern of genetic and stochastic effects... 
A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growthGaelle Lefevre
Unité de Génétique des Déficits Sensoriels, UMRS587 INSERM Université Paris VI, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
Development 135:1427-37. 2008..Mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15 or sans cause Usher syndrome type I (USH1, characterized by congenital deafness, vestibular dysfunction and ..- A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemiaAdriana Huertas-Vazquez
Heart Institute, Cedars Sinai Medical Center, Los Angeles, CA, USA
Hum Genet 127:83-9. 2010..In a previous study, we identified an intragenic microsatellite marker within the protocadherin 15 (PCDH15) gene to be associated with high triglycerides (TGs) in Finnish dyslipidemic families... - Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degenerationZubair M Ahmed
National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA
Mol Vis 14:2227-36. 2008To determine whether cadherin 23 and protocadherin 15 can substitute for one another in the maintenance of the retina and other tissues in the mouse. Does homozygosity for both v and av mutant alleles (i.e... - Electron microscopic studies of capillary permeability in normal and ames waltzer deaf miceS Osako
Acta Otolaryngol 71:365-76. 1971 - Strain background effects and genetic modifiers of hearing in miceKenneth R Johnson
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Brain Res 1091:79-88. 2006..Because modifier genes and digenic inheritance are not always distinguishable, we also include in this review several examples of digenic inheritance of hearing loss that have been reported in both mice and humans... - Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10E Zobeley
Mental Health Research Institute, University of Michigan, Ann Arbor 48109 0720, USA
Genomics 50:260-6. 1998The Ames waltzer (av) mouse mutant is an autosomal recessive deafness mutation on mouse Chromosome 10. Previously, av had not been mapped relative to molecular markers... - A new mouse insertional mutation that causes sensorineural deafness and vestibular defectsK N Alagramam
Department of Pediatrics, Rainbow Babies and Children s Hospital, Case Western Reserve University, Cleveland, Ohio 44106, USA
Genetics 152:1691-9. 1999..The mutant locus was mapped to a region on mouse chromosome 10, where other spontaneous, recessive mutations causing deafness in mice have been mapped... - Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzerK N Alagramam
Department of Pediatrics, Rainbow Babies and Children s Hospital, Case Western Reserve University, Cleveland, OH 44106, USA
Hear Res 148:181-91. 2000..was mapped to a region on mouse chromosome 10 close to three spontaneous recessive mutations causing deafness: Ames waltzer (av), Waltzer (v), and Jackson circler (jc)... - Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) miceY Raphael
Kresge Hearing Research Institute, The Department of Otolaryngology, The University of Michigan, Ann Arbor, MI 48109 0648, USA
Hear Res 151:237-249. 2001..Here we report the first phenotypic characterization of three alleles of Ames waltzer (av)... - Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryoC L Murcia
Department of Genetics, Case Western Reserve University, 44106, Cleveland, OH, USA
Mech Dev 105:163-6. 2001We previously determined that Protocadherin 15 (Pcdh15) is associated with the Ames waltzer mutation in the mouse... - Absence of major histocompatibility class II expression does not impair hematopoiesis in miceA I Benito
Program in Human Immunogenetics, Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109 1024, USA
Exp Hematol 29:1070-5. 2001..We examined the role of MHC II antigens during hematopoiesis using a mouse model of MHC II deficiency related to the absence of the critical transcriptional activator, CIITA... - Assessment of retinal structure and function in Ames waltzer miceSherry L Ball
Research Service, Cleveland VA Medical Center, Cleveland, Ohio, USA
Invest Ophthalmol Vis Sci 44:3986-92. 2003In humans, mutations in protocadherin 15 are known to result in Usher Syndrome type 1F (USH1F). Patients with USH1F are born with profound hearing loss and have visual problems that develop in late childhood... - Characterization of a new allele of Ames waltzer generated by ENU mutagenesisJesse L Washington
Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, USA
Hear Res 202:161-9. 2005Mutation in the protocadherin 15 (Pcdh15) gene causes hair cell dysfunction and is associated with abnormal stereocilia development... - Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1FKumar N Alagramam
Department of Otolaryngology Head and Neck Surgery, University Hospitals of Cleveland, Case Western Reserve University, Cleveland, OH 44106, USA
J Assoc Res Otolaryngol 6:106-18. 2005The deaf-circling Ames waltzer (av) mouse harbors a mutation in the protocadherin 15 (Pcdh15) gene and is a model for inner ear defects associated with Usher syndrome type 1F... - Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cellsAziz El-Amraoui
Unité de Génétique des Déficits Sensoriels, INSERM U587, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
J Cell Sci 118:4593-603. 2005Defects in myosin VIIa, the PDZ-domain-containing protein harmonin, cadherin 23 and protocadherin 15 (two cadherins with large extracellular regions), and the putative scaffolding protein Sans underlie five genetic forms of Usher syndrome .. - A quantitative survey of gravity receptor function in mutant mouse strainsSherri M Jones
Department of Communication Sciences and Disorders, East Carolina University, Greenville, NC 27858, USA
J Assoc Res Otolaryngol 6:297-310. 2005..Interestingly, some heterozygote groups also showed abnormalities in one or more VsEP response parameters, suggesting that vestibular dysfunction, although less severe, may be present in some heterozygous animals... - Mapping quantitative trait loci for hearing loss in Black Swiss miceMeghan Drayton
Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA
Hear Res 212:128-39. 2006..Cadherin 23 (Cdh23) and protocadherin 15 (Pcdh15), mapping within the 95% confidence interval of ahl5, bear nucleotide polymorphisms in coding exons, .. - Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cellsKumar N Alagramam
Otolaryngology Head and Neck Surgery, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, Ohio, United States of America
PLoS ONE 6:e19183. 2011Immunocytochemical studies have shown that protocadherin-15 (PCDH15) and cadherin-23 (CDH23) are associated with tip links, structures thought to gate the mechanotransducer channels of hair cells in the sensory epithelia of the inner ear...
Research Grants
- CORE--MORPHOLOGYYehoash Raphael; Fiscal Year: 2002..Dr. Raphael will also be involved in preparing the data for presentation in meetings or peer reviewed papers. ..
- GDNF Protection in the Inner EarYehoash Raphael; Fiscal Year: 2005..The data we propose to generate will enhance our understanding of the mechanisms of action of GDNF in normal and injured inner ear epithelia, knowledge that may eventually lead to better clinical treatments ..
- Cdh23 Splicing in Hair Cell Development and FunctionSTUART WEBB; Fiscal Year: 2007..Taken together, the findings are expected to provide insights into the expression pattern and function of CDH23 isoforms in hair cells. ..