Pcdh15

Summary

Gene Symbol: Pcdh15
Description: protocadherin 15
Alias: BB078305, Gm9815, Ush1f, nmf19, roda, protocadherin-15, Ames waltzer, protocadherin 15 CD2, protocadherin 15 CD3 isoform
Species: mouse

Top Publications

  1. ncbi The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15
    Zubair 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
  2. ncbi 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
  3. ncbi Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells
    Piotr Kazmierczak
    The Scripps Research, Institute Department of Cell Biology, La Jolla, California 92037, USA
    Nature 449:87-91. 2007
  4. doi A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth
    Gaelle 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
  5. pmc Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration
    Zubair M Ahmed
    National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA
    Mol Vis 14:2227-36. 2008
  6. pmc A new spontaneous mutation in the mouse protocadherin 15 gene
    Q Y Zheng
    Otolaryngology Head and Neck Surgery, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106, USA
    Hear Res 219:110-20. 2006
  7. ncbi Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts
    Ricky 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. 2006
  8. pmc Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells
    Marisa Zallocchi
    Usher Syndrome Center, Boys Town National Research Hospital, 555 North 30th Street, Omaha, Nebraska 68131, USA
    Biochemistry 49:1236-47. 2010
  9. ncbi Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    Jan 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
  10. pmc Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells
    Mathias 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

Research Grants

  1. GDNF Protection in the Inner Ear
    Yehoash Raphael; Fiscal Year: 2005
  2. Cdh23 Splicing in Hair Cell Development and Function
    STUART WEBB; Fiscal Year: 2008

Scientific Experts

  • S M G Massironi
  • DOMINIC E COSGROVE
  • Elisabeth Verpy
  • K R Johnson
  • Yehoash Raphael
  • Kumar N Alagramam
  • Karen S Pawlowski
  • Stuart W Webb
  • Adriana Huertas-Vazquez
  • Andrea Lelli
  • Marisa Zallocchi
  • Christine Petit
  • Zubair M Ahmed
  • Jan Reiners
  • Uwe Wolfrum
  • Vincent Michel
  • Piotr Kazmierczak
  • Ulrich Muller
  • Qing Yin Zheng
  • Aziz El-Amraoui
  • Paul Avan
  • David P Corey
  • Elise Pepermans
  • Marcos Sotomayor
  • Ruishuang Geng
  • Thomas B Friedman
  • Jean Pierre Hardelin
  • Lori L Hampton
  • Denise Yan
  • Jeffrey R Holt
  • Dominique Weil
  • Fabian Jansen
  • Heping Yu
  • Typhaine Dupont
  • Ricky J L Haywood-Watson
  • Déborah I Scheffer
  • R Ye
  • Reo Maeda
  • Saima Riazuddin
  • James F Battey
  • Isabelle Perfettini
  • Tina Märker
  • Adriana Amorim Torres
  • Karin Jürgens
  • Konrad Noben-Trauth
  • Rachelle Gaudet
  • Amel Bahloul
  • Maria F Chacon-Heszele
  • Wei Xiong
  • David A Roeseler
  • Daniel T Meehan
  • Duane Delimont
  • Daniel H C Chen
  • Elisa Caberlotto
  • Kerstin Nagel-Wolfrum
  • Mark R Chance
  • Richard Goodyear
  • Jean Louis Guenet
  • Peter G Gillespie
  • Guy P Richardson
  • Gaelle Lefevre
  • Xue Zhong Liu
  • Xiao Mei Ouyang
  • Gwenaëlle S G Géléoc
  • Ronald A Bush
  • Paul A Sieving
  • Sten Kjellstrom
  • Mathias Senften
  • Alfredo Calderon
  • Tomoji Mashimo
  • Meghan Drayton
  • Q Y Zheng
  • Jesse L Washington
  • Avital Adato
  • Sherri M Jones
  • Inna A Belyantseva
  • Andrew J Griffith
  • Sheikh Riazuddin
  • Edward R Wilcox
  • Charles G Wright
  • Jacques Boutet de Monvel
  • Montserrat Bosch-Grau
  • Paul Scholz
  • Benjamin Kalbe
  • Marta Mikosz
  • Sabrina Osterloh
  • Stefan Kurtenbach
  • Sherry L Ball
  • Hanns Hatt
  • Kirsten A Wunderlich

Detail Information

Publications60

  1. ncbi The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15
    Zubair 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...
  2. ncbi 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 ..
  3. ncbi Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells
    Piotr 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...
  4. doi A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth
    Gaelle 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 ..
  5. pmc Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration
    Zubair M Ahmed
    National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA
    Mol Vis 14:2227-36. 2008
    To 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...
  6. pmc A new spontaneous mutation in the mouse protocadherin 15 gene
    Q Y Zheng
    Otolaryngology Head and Neck Surgery, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106, USA
    Hear Res 219:110-20. 2006
    We 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...
  7. ncbi Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts
    Ricky 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. 2006
    Mutations 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...
  8. pmc Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells
    Marisa Zallocchi
    Usher Syndrome Center, Boys Town National Research Hospital, 555 North 30th Street, Omaha, Nebraska 68131, USA
    Biochemistry 49:1236-47. 2010
    ..At least two complexes were evident after the first gradient: one formed by specific isoforms of CDH23, PCDH15, and VLGR-1 and a different one at the top of the gradient that included all of the Usher proteins and rab5, a ..
  9. ncbi Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    Jan 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)...
  10. pmc Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells
    Mathias 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...
  11. pmc Development and regeneration of sensory transduction in auditory hair cells requires functional interaction between cadherin-23 and protocadherin-15
    Andrea 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)...
  12. pmc Progression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell development
    Karen 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. 2006
    The Ames waltzer (av) mouse mutant exhibits auditory and vestibular abnormalities resulting from mutation of protocadherin 15 (Pcdh15)...
  13. pmc Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain
    Stuart W Webb
    Dorris Neuroscience Center and Department of Cell Biology, The Scripps Research Institute, La Jolla, CA 92037, USA
    Development 138:1607-17. 2011
    b>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...
  14. pmc Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia
    Elisa 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...
  15. ncbi Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells
    Aziz 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. 2005
    Defects 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 ..
  16. ncbi Interactions in the network of Usher syndrome type 1 proteins
    Avital 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. 2005
    Defects 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)...
  17. pmc Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans
    Qing Yin Zheng
    Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 14:103-11. 2005
    Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans...
  18. ncbi PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
    Zubair 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. 2003
    Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F)...
  19. ncbi A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15
    Lori 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))...
  20. ncbi Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
    K 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...
  21. ncbi The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
    K 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 ..
  22. ncbi Inducing mutations in the mouse genome with the chemical mutagen ethylnitrosourea
    S M G Massironi
    Departamento de Imunologia, Instituto de Ciencias Biomedicas, Universidade de Sao Paulo, Sao Paulo, SP, Brasil
    Braz J Med Biol Res 39:1217-26. 2006
    ..More mutations would certainly be discovered using more sophisticated phenotyping protocols. Seven of the 11 new mutant alleles induced in our experiment have been localized on the genetic map as a first step towards positional cloning...
  23. pmc Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2
    David A Roeseler
    Division of Biological Sciences, University of Missouri, Columbia, Missouri, United States of America
    PLoS ONE 7:e47366. 2012
    ..genes include EEF1A1, ROBO1, PLXNA4, SLIT3, NRP1, and NOTCH2, as well as genes associated with the Usher syndrome, PCDH15 and USH2A, and are plausible candidates contributing to the developmental defects in Gbx2(-/-) mice...
  24. doi The circling mutant Pcdh15roda is a new mouse model for hearing loss
    Adriana Amorim Torres
    Laboratório de Genética Animal e Humana, Departamento de Biologia Geral, Instituto de Ciencias Biologicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil
    Mutat Res 751:29-35. 2013
    ..The mutation was mapped to mouse chromosome 10, and characterization of the gene Pcdh15 revealed an AT-to-GC transition in intron 23 of mutant animals...
  25. pmc Usher protein functions in hair cells and photoreceptors
    Dominic Cosgrove
    Boys Town National Research Hospital, Omaha, NE, USA Electronic address
    Int J Biochem Cell Biol 46:80-9. 2014
    ..In mature hair cells, homodimers of the Usher cadherins, cadherin 23 and protocadherin 15, interact to form a structural fiber, the tip link, and the linkages that anchor the taller stereocilia's ..
  26. pmc Quantitative trait loci mapping and gene network analysis implicate protocadherin-15 as a determinant of brain serotonin transporter expression
    R Ye
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN, USA
    Genes Brain Behav 13:261-75. 2014
    ..QTLs), one of which associated with male midbrain SERT protein expression, centered on the protocadherin-15 gene (Pcdh15), overlapped with a QTL for midbrain 5-HT levels...
  27. pmc The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells
    Elise Pepermans
    Unite de Genetique et Physiologie de l Audition, Institut Pasteur, Paris, France UMRS 1120, Institut National de la Sante et de la Recherche Medicale INSERM, Paris, France Université Pierre et Marie Curie Paris VI, Paris, France
    EMBO Mol Med 6:984-92. 2014
    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...
  28. pmc Tip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2
    Reo Maeda
    Oregon Hearing Research Center and Vollum Institute, Oregon Health and Science University, Portland, OR 97239
    Proc Natl Acad Sci U S A 111:12907-12. 2014
    The tip link protein protocadherin 15 (PCDH15) is a central component of the mechanotransduction complex in auditory and vestibular hair cells...
  29. pmc Gene Expression by Mouse Inner Ear Hair Cells during Development
    Déborah I Scheffer
    Department of Neurobiology and Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, Department of Otology and Laryngology, Harvard Medical School and Massachusetts Eye and Ear, Boston, Massachusetts 02114, and
    J Neurosci 35:6366-80. 2015
    ..We found that many of the known hereditary deafness genes are much more highly expressed in hair cells than surrounding cells, suggesting that genes preferentially expressed in hair cells are good candidates for unknown deafness genes. ..
  30. doi Impact of the Usher syndrome on olfaction
    Fabian Jansen
    Cell Physiology, Faculty for Biology and Biotechnology, Ruhr University Bochum, 44801 Bochum, Germany and
    Hum Mol Genet 25:524-33. 2016
    ..In summary, this study provides novel insights into the presence and purpose of the Usher proteins in olfactory signal transduction. ..
  31. pmc Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth
    Andrea Lelli
    Unite de Genetique et Physiologie de l Audition, Institut Pasteur, 75724 Paris, Cedex 15, France Unité Mixte de Recherche UMRS1120, Institut National de la Sante et de la Recherche Medicale, 75015 Paris, France Sorbonne Universités, Université Pierre et Marie Curie UPMC Paris VI, Complexité Du Vivant, 75005 Paris, France
    J Cell Biol 212:231-44. 2016
    ....
  32. ncbi Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
    Jan Reiners
    Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, Germany
    Hum Mol Genet 14:3933-43. 2005
    ..These findings provide first evidence for a molecular linkage between the pathophysiology in USH1 and USH2. The organization of USH molecules in a mutual 'interactome' related to the disease can explain the common phenotype in USH...
  33. pmc Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane
    Elisabeth Verpy
    Unite de Genetique et Physiologie de l Audition, Institut Pasteur, Paris, France
    J Comp Neurol 519:194-210. 2011
    ..We conclude that stereocilin is essential to the formation of horizontal top connectors. We propose that these links, which maintain the cohesiveness of the mature OHC hair bundle, are required for tip-link turnover...
  34. pmc Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction
    Marcos Sotomayor
    Howard Hughes Medical Institute and Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nature 492:128-32. 2012
    ..to hair-cell transduction channels by tip links, fine filaments formed by two atypical cadherins known as protocadherin 15 and cadherin 23 (refs 4, 5)...
  35. pmc Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells
    Marisa Zallocchi
    Boys Town National Research Hospital, Omaha, Nebraska 68131, USA
    J Neurosci 32:13841-59. 2012
    ..Immature mouse cochleae and UB/OC-1 cells were used in this work to address whether specific variants of PCDH15 and VLGR1 are being selectively transported to opposite poles of the hair cells...
  36. pmc Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes
    Qing Yin Zheng
    Otolaryngology Head and Neck Surgery, Case Western Reserve University, 11100 Euclid Avenue, Cleveland, OH 44106, USA
    Hum Mol Genet 21:2588-98. 2012
    ..We generated mice that were digenic heterozygotes for Myo7a(sh1-8J) and one of each Cdh23(v-2J), Ush1g(js) or Pcdh15(av-3J) alleles, or an Ush1c null allele...
  37. pmc Role for a novel Usher protein complex in hair cell synaptic maturation
    Marisa Zallocchi
    Boys Town National Research Hospital, Omaha, Nebraska, United States of America
    PLoS ONE 7:e30573. 2012
    ..Analysis of the ribbon synapses in Ames waltzer(av3J) mice also suggests a delay in hair cell synaptogenesis...
  38. pmc Regulation of cochlear convergent extension by the vertebrate planar cell polarity pathway is dependent on p120-catenin
    Maria F Chacon-Heszele
    Department of Cell Biology, Emory University, 615 Michael Street, Atlanta, Georgia 30322, USA
    Development 139:968-78. 2012
    ..Conversely, we found that Pcdh15 interacts genetically with PCP genes to regulate the formation of polar hair bundles, but not CE defects in the ..
  39. pmc TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells
    Wei Xiong
    The Dorris Neuroscience Center, Department of Cell Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Cell 151:1283-95. 2012
    ..TMHS binds to the tip-link component PCDH15 and regulates tip-link assembly, a process that is disrupted by deafness-causing Tmhs mutations...
  40. pmc Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells
    Ruishuang Geng
    Otolaryngology Head and Neck Surgery, University Hospitals Case Medical Center, Case Western Reserve University, Cleveland, Ohio 44106, USA
    J Neurosci 33:4395-404. 2013
    ..Tip links are formed by a tetramer of two cadherin proteins: protocadherin 15 (PCDH15) and cadherin 23 (CDH23), which have 11 and 27 extracellular cadherin (EC) repeats, respectively...
  41. ncbi Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10
    E Zobeley
    Mental Health Research Institute, University of Michigan, Ann Arbor 48109 0720, USA
    Genomics 50:260-6. 1998
    The 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...
  42. ncbi Characterization of a new allele of Ames waltzer generated by ENU mutagenesis
    Jesse L Washington
    Department of Pediatrics, Case Western Reserve University, Cleveland, OH 44106, USA
    Hear Res 202:161-9. 2005
    Mutation in the protocadherin 15 (Pcdh15) gene causes hair cell dysfunction and is associated with abnormal stereocilia development...
  43. ncbi Assessment of retinal structure and function in Ames waltzer mice
    Sherry L Ball
    Research Service, Cleveland VA Medical Center, Cleveland, Ohio, USA
    Invest Ophthalmol Vis Sci 44:3986-92. 2003
    In 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...
  44. ncbi Absence of major histocompatibility class II expression does not impair hematopoiesis in mice
    A 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...
  45. ncbi Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo
    C L Murcia
    Department of Genetics, Case Western Reserve University, 44106, Cleveland, OH, USA
    Mech Dev 105:163-6. 2001
    We previously determined that Protocadherin 15 (Pcdh15) is associated with the Ames waltzer mutation in the mouse...
  46. ncbi Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice
    Y 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)...
  47. ncbi Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer
    K 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)...
  48. pmc A new mouse insertional mutation that causes sensorineural deafness and vestibular defects
    K 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...
  49. ncbi Electron microscopic studies of capillary permeability in normal and ames waltzer deaf mice
    S Osako
    Acta Otolaryngol 71:365-76. 1971
  50. pmc Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F
    Kumar 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. 2005
    The 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...
  51. pmc Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells
    Kumar 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. 2011
    Immunocytochemical 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...
  52. pmc A quantitative survey of gravity receptor function in mutant mouse strains
    Sherri 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...
  53. pmc Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice
    Denise 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.
  54. ncbi Mapping quantitative trait loci for hearing loss in Black Swiss mice
    Meghan 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, ..
  55. pmc 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 1F
    Mark 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. 2010
    Proteins and protein networks associated with cochlear pathogenesis in the Ames waltzer (av) mouse, a model for deafness in Usher syndrome 1F (USH1F), were identified...
  56. pmc Strain background effects and genetic modifiers of hearing in mice
    Kenneth 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...
  57. pmc A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia
    Adriana 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...
  58. pmc Tonotopic gradient in the developmental acquisition of sensory transduction in outer hair cells of the mouse cochlea
    Andrea 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...
  59. ncbi Two quantitative trait loci affecting progressive hearing loss in 101/H mice
    Tomoji 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...
  60. ncbi Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse
    Alfredo 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...

Research Grants2

  1. GDNF Protection in the Inner Ear
    Yehoash 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 ..
  2. Cdh23 Splicing in Hair Cell Development and Function
    STUART WEBB; Fiscal Year: 2008
    ..Taken together, the findings are expected to provide insights into the expression pattern and function of CDH23 isoforms in hair cells. [unreadable] [unreadable] [unreadable]..