Pcdh15

Summary

Gene 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

  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 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
  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. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Research Grants

  1. CORE--MORPHOLOGY
    Yehoash Raphael; Fiscal Year: 2002
  2. GDNF Protection in the Inner Ear
    Yehoash Raphael; Fiscal Year: 2005
  3. Cdh23 Splicing in Hair Cell Development and Function
    STUART WEBB; Fiscal Year: 2007

Scientific Experts

  • Elisabeth Verpy
  • K R Johnson
  • Yehoash Raphael
  • Kumar N Alagramam
  • Karen S Pawlowski
  • Stuart W Webb
  • Adriana Huertas-Vazquez
  • Zubair M Ahmed
  • Piotr Kazmierczak
  • Marisa Zallocchi
  • Andrea Lelli
  • Jan Reiners
  • Ulrich Muller
  • Qing Yin Zheng
  • Christine Petit
  • Marcos Sotomayor
  • Ruishuang Geng
  • Uwe Wolfrum
  • Thomas B Friedman
  • Lori L Hampton
  • Denise Yan
  • Jeffrey R Holt
  • Dominique Weil
  • Vincent Michel
  • Heping Yu
  • Ricky J L Haywood-Watson
  • James F Battey
  • Saima Riazuddin
  • Konrad Noben-Trauth
  • Rachelle Gaudet
  • David P Corey
  • Aziz El-Amraoui
  • Wei Xiong
  • Maria F Chacon-Heszele
  • Duane Delimont
  • Daniel T Meehan
  • Dominic Cosgrove
  • Daniel H C Chen
  • Elisa Caberlotto
  • Mark R Chance
  • Jean Pierre Hardelin
  • Peter G Gillespie
  • Guy P Richardson
  • Xue Zhong Liu
  • Xiao Mei Ouyang
  • Gaelle Lefevre
  • Gwenaëlle S G Géléoc
  • Sten Kjellstrom
  • Ronald A Bush
  • Paul A Sieving
  • Meghan Drayton
  • Alfredo Calderon
  • Q Y Zheng
  • Mathias Senften
  • Tomoji Mashimo
  • Karin Jürgens
  • Tina Märker
  • Sherri M Jones
  • Jesse L Washington
  • Avital Adato
  • Andrew J Griffith
  • Edward R Wilcox
  • Sheikh Riazuddin
  • Inna A Belyantseva
  • Charles G Wright
  • Sherry L Ball
  • Rachel E Hardisty-Hughes
  • Steve D Brown
  • John Gerka-Stuyt
  • David Furness
  • Greg Ball
  • Suhasini R Gopal
  • Kimberly J Kinder
  • Andy Parker
  • Ye Zheng
  • C L Murcia
  • Fanglu Chi
  • DongDong Ren
  • Michael Anne Gratton
  • Wilhelm A Weihofen
  • John Flannery
  • A I Benito
  • Bo Zhao
  • Dongseok Choi
  • Ping Chen
  • Nicolas Grillet
  • Thomas F J Wagner
  • John D Scarborough
  • Albert B Reynolds
  • Joseph Rutledge

Detail Information

Publications48

  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 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)...
  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. 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...
  5. 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...
  6. 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...
  7. 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)...
  8. 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...
  9. 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...
  10. 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)...
  11. 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)...
  12. 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 ..
  13. 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 ..
  14. 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...
  15. 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)...
  16. 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 ..
  17. 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 ..
  18. 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))...
  19. 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...
  20. 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...
  21. 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...
  22. 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)...
  23. 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...
  24. 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...
  25. 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...
  26. 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...
  27. 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 ..
  28. ncbi Electron microscopic studies of capillary permeability in normal and ames waltzer deaf mice
    S Osako
    Acta Otolaryngol 71:365-76. 1971
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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)...
  35. 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)...
  36. 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...
  37. 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...
  38. 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.
  39. 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...
  40. 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...
  41. 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...
  42. 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...
  43. 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, ..
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. 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...

Research Grants4

  1. CORE--MORPHOLOGY
    Yehoash Raphael; Fiscal Year: 2002
    ..Dr. Raphael will also be involved in preparing the data for presentation in meetings or peer reviewed papers. ..
  2. 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 ..
  3. Cdh23 Splicing in Hair Cell Development and Function
    STUART 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. ..