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
Products:     Pcdh15

Top Publications

  1. Ahmed Z, Goodyear R, Riazuddin S, Lagziel A, Legan P, Behra M, et al. The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15. J Neurosci. 2006;26:7022-34 pubmed
    ..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. Schwander M, Xiong W, Tokita J, Lelli A, Elledge H, Kazmierczak P, et al. A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. Proc Natl Acad Sci U S A. 2009;106:5252-7 pubmed publisher
    ..We propose that mutations in other genes that cause USH1 and nonsyndromic deafness may also have distinct effects on hair cell development and function. ..
  3. Caberlotto E, Michel V, Foucher I, Bahloul A, Goodyear R, Pepermans E, et al. Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. Proc Natl Acad Sci U S A. 2011;108:5825-30 pubmed publisher
    ..They are made of cadherin-23 and protocadherin-15, products of the Usher syndrome type 1 genes USH1D and USH1F, respectively...
  4. Haywood Watson R, Ahmed Z, Kjellstrom S, Bush R, Takada Y, Hampton L, et al. Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Invest Ophthalmol Vis Sci. 2006;47:3074-84 pubmed
    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...
  5. Lelli A, Kazmierczak P, Kawashima Y, Muller U, Holt J. Development and regeneration of sensory transduction in auditory hair cells requires functional interaction between cadherin-23 and protocadherin-15. J Neurosci. 2010;30:11259-69 pubmed publisher
    ..by calcium-dependent interactions between the N-terminal domains of cadherin-23 (CDH23) and protocadherin-15 (PCDH15)...
  6. Ahmed Z, Riazuddin S, Ahmad J, Bernstein S, Guo Y, Sabar M, et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. 2003;12:3215-23 pubmed
    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)...
  7. Alagramam K, Yuan H, Kuehn M, Murcia C, Wayne S, Srisailpathy C, et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet. 2001;10:1709-18 pubmed
    ..By fluorescence in situ hybridization, we placed the human homolog of the mouse protocadherin Pcdh15 in the linkage interval defined by the USH1F locus...
  8. Lefevre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, et al. A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development. 2008;135:1427-37 pubmed publisher
    ..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 ..
  9. Reiners J, Märker T, Jürgens K, Reidel B, Wolfrum U. Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Mol Vis. 2005;11:347-55 pubmed
    ..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 ..

More Information

Publications68

  1. Hampton L, Wright C, Alagramam K, Battey J, Noben Trauth K. A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15. Hear Res. 2003;180:67-75 pubmed
    ..As shown by complementation testing, the new mutation is allelic with Ames waltzer (Pcdh15(av))...
  2. Pawlowski K, Kikkawa Y, Wright C, Alagramam K. Progression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell development. J Assoc Res Otolaryngol. 2006;7:83-94 pubmed
    The Ames waltzer (av) mouse mutant exhibits auditory and vestibular abnormalities resulting from mutation of protocadherin 15 (Pcdh15)...
  3. Kazmierczak P, Sakaguchi H, Tokita J, Wilson Kubalek E, Milligan R, Muller U, et al. Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature. 2007;449:87-91 pubmed
    ..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. Webb S, Grillet N, Andrade L, Xiong W, Swarthout L, Della Santina C, et al. Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain. Development. 2011;138:1607-17 pubmed publisher
    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...
  5. Ahmed Z, Kjellstrom S, Haywood Watson R, Bush R, Hampton L, Battey J, et al. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration. Mol Vis. 2008;14:2227-36 pubmed
    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. Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam K, Weil D, et al. Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet. 2005;14:347-56 pubmed
    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)...
  7. Zallocchi M, Sisson J, Cosgrove D. Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells. Biochemistry. 2010;49:1236-47 pubmed publisher
    ..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 ..
  8. Reiners J, Nagel Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006;83:97-119 pubmed
    ..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)...
  9. El Amraoui A, Petit C. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci. 2005;118:4593-603 pubmed
    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 ..
  10. Elledge H, Kazmierczak P, Clark P, Joseph J, Kolatkar A, Kuhn P, et al. Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members. Proc Natl Acad Sci U S A. 2010;107:10708-12 pubmed publisher
    ..Here, we have determined the structure of the EC1-EC2 domains of cadherin 23 (CDH23), which binds to protocadherin 15 (PCDH15) to form tip links of mechanosensory hair cells...
  11. Senften M, Schwander M, Kazmierczak P, Lillo C, Shin J, Hasson T, et al. Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J Neurosci. 2006;26:2060-71 pubmed
    ..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...
  12. Alagramam K, Murcia C, Kwon H, Pawlowski K, Wright C, Woychik R. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet. 2001;27:99-102 pubmed
    ..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. Zheng Q, Yan D, Ouyang X, Du L, Yu H, Chang B, et al. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet. 2005;14:103-11 pubmed
    Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans...
  14. Zheng Q, Yu H, Washington J, Kisley L, Kikkawa Y, Pawlowski K, et al. A new spontaneous mutation in the mouse protocadherin 15 gene. Hear Res. 2006;219:110-20 pubmed
    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. Mahendrasingam S, Fettiplace R, Alagramam K, Cross E, Furness D. Spatiotemporal changes in the distribution of LHFPL5 in mice cochlear hair bundles during development and in the absence of PCDH15. PLoS ONE. 2017;12:e0185285 pubmed publisher
    ..transmembrane channel-like protein subunit 1 (TMC1), lipoma HMGIC fusion partner-like 5 protein (LHFPL5) and protocadherin 15 (PCDH15), a lower-end component of the tip link...
  16. Alagramam K, Goodyear R, Geng R, Furness D, van Aken A, Marcotti W, et al. Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells. PLoS ONE. 2011;6:e19183 pubmed publisher
    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...
  17. Drayton M, Noben Trauth K. Mapping quantitative trait loci for hearing loss in Black Swiss mice. Hear Res. 2006;212:128-39 pubmed
    ..Cadherin 23 (Cdh23) and protocadherin 15 (Pcdh15), mapping within the 95% confidence interval of ahl5, bear nucleotide polymorphisms in coding exons, ..
  18. Zheng Q, Scarborough J, Zheng Y, Yu H, Choi D, Gillespie P. Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. Hum Mol Genet. 2012;21:2588-98 pubmed publisher
    ..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...
  19. Alagramam K, Zahorsky Reeves J, Wright C, Pawlowski K, Erway L, Stubbs L, et al. Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer. Hear Res. 2000;148:181-91 pubmed
    ..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)...
  20. Geng R, Sotomayor M, Kinder K, Gopal S, Gerka Stuyt J, Chen D, et al. 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. J Neurosci. 2013;33:4395-404 pubmed publisher
    ..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. Johnson K, Zheng Q, Noben Trauth K. Strain background effects and genetic modifiers of hearing in mice. Brain Res. 2006;1091:79-88 pubmed
    ..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. ..
  22. Cunningham C, Wu Z, Jafari A, Zhao B, Schrode K, Harkins Perry S, et al. The murine catecholamine methyltransferase mTOMT is essential for mechanotransduction by cochlear hair cells. elife. 2017;6: pubmed publisher
    ..Defects in this process are likely mechanistically linked to deafness caused by mutations in LRTOMT/Tomt. ..
  23. Massironi S, Reis B, Carneiro J, Barbosa L, Ariza C, Santos G, et al. Inducing mutations in the mouse genome with the chemical mutagen ethylnitrosourea. Braz J Med Biol Res. 2006;39:1217-26 pubmed
    ..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. ..
  24. Xiong W, Grillet N, Elledge H, Wagner T, Zhao B, Johnson K, et al. TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell. 2012;151:1283-95 pubmed publisher
    ..TMHS binds to the tip-link component PCDH15 and regulates tip-link assembly, a process that is disrupted by deafness-causing Tmhs mutations...
  25. Chance M, Chang J, Liu S, Gokulrangan G, Chen D, Lindsay A, et al. 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. Hum Mol Genet. 2010;19:1515-27 pubmed publisher
    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...
  26. Libé Philippot B, Michel V, Boutet de Monvel J, Le Gal S, Dupont T, Avan P, et al. Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction. Proc Natl Acad Sci U S A. 2017;114:7765-7774 pubmed publisher
    ..These findings open up new perspectives for auditory rehabilitation and cortical therapies in patients. ..
  27. Cosgrove D, Zallocchi M. Usher protein functions in hair cells and photoreceptors. Int J Biochem Cell Biol. 2014;46:80-9 pubmed publisher
    ..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 ..
  28. Roeseler D, Sachdev S, Buckley D, Joshi T, Wu D, Xu D, et al. Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2. PLoS ONE. 2012;7:e47366 pubmed publisher
    ..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...
  29. Raphael Y, Kobayashi K, Dootz G, Beyer L, Dolan D, Burmeister M. Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice. Hear Res. 2001;151:237-249 pubmed
    ..Here we report the first phenotypic characterization of three alleles of Ames waltzer (av)...
  30. Torres A, Rzadzinska A, Ribeiro A, Silva D, Guenet J, Massironi S, et al. The circling mutant Pcdh15roda is a new mouse model for hearing loss. Mutat Res. 2013;751-752:29-35 pubmed publisher
    ..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...
  31. Murcia C, Woychik R. Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo. Mech Dev. 2001;105:163-6 pubmed
    We previously determined that Protocadherin 15 (Pcdh15) is associated with the Ames waltzer mutation in the mouse...
  32. Ball S, Bardenstein D, Alagramam K. Assessment of retinal structure and function in Ames waltzer mice. Invest Ophthalmol Vis Sci. 2003;44:3986-92 pubmed
    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. Verpy E, Leibovici M, Michalski N, Goodyear R, Houdon C, Weil D, et al. Stereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane. J Comp Neurol. 2011;519:194-210 pubmed publisher
    ..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. Maeda R, Kindt K, Mo W, Morgan C, Erickson T, Zhao H, et al. Tip-link protein protocadherin 15 interacts with transmembrane channel-like proteins TMC1 and TMC2. Proc Natl Acad Sci U S A. 2014;111:12907-12 pubmed publisher
    The tip link protein protocadherin 15 (PCDH15) is a central component of the mechanotransduction complex in auditory and vestibular hair cells...
  35. Giese A, Tang Y, Sinha G, Bowl M, Goldring A, Parker A, et al. CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells. Nat Commun. 2017;8:43 pubmed publisher
    ..Here the authors show that protein responsible for Usher syndrome, CIB2, interacts with these channels and is essential for their function and hearing in mice. ..
  36. Alagramam K, Stahl J, Jones S, Pawlowski K, Wright C. Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F. J Assoc Res Otolaryngol. 2005;6:106-18 pubmed
    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...
  37. Alagramam K, Kwon H, Cacheiro N, Stubbs L, Wright C, Erway L, et al. A new mouse insertional mutation that causes sensorineural deafness and vestibular defects. Genetics. 1999;152:1691-9 pubmed
    ..The mutant locus was mapped to a region on mouse chromosome 10, where other spontaneous, recessive mutations causing deafness in mice have been mapped. ..
  38. Ye R, Carneiro A, Han Q, Airey D, Sanders Bush E, Zhang B, et al. Quantitative trait loci mapping and gene network analysis implicate protocadherin-15 as a determinant of brain serotonin transporter expression. Genes Brain Behav. 2014;13:261-75 pubmed publisher
    ..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...
  39. Jones S, Johnson K, Yu H, Erway L, Alagramam K, Pollak N, et al. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol. 2005;6:297-310 pubmed
    ..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. ..
  40. Zallocchi M, Meehan D, Delimont D, Rutledge J, Gratton M, Flannery J, et al. Role for a novel Usher protein complex in hair cell synaptic maturation. PLoS ONE. 2012;7:e30573 pubmed publisher
    ..Analysis of the ribbon synapses in Ames waltzer(av3J) mice also suggests a delay in hair cell synaptogenesis...
  41. Pepermans E, Michel V, Goodyear R, Bonnet C, Abdi S, Dupont T, et al. The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells. EMBO Mol Med. 2014;6:984-92 pubmed publisher
    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...
  42. Scheffer D, Shen J, Corey D, Chen Z. Gene Expression by Mouse Inner Ear Hair Cells during Development. J Neurosci. 2015;35:6366-80 pubmed publisher
    ..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. ..
  43. Lelli A, Asai Y, Forge A, Holt J, Géléoc G. Tonotopic gradient in the developmental acquisition of sensory transduction in outer hair cells of the mouse cochlea. J Neurophysiol. 2009;101:2961-73 pubmed publisher
    ..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...
  44. Washington J, Pitts D, Wright C, Erway L, Davis R, Alagramam K. Characterization of a new allele of Ames waltzer generated by ENU mutagenesis. Hear Res. 2005;202:161-9 pubmed
    Mutation in the protocadherin 15 (Pcdh15) gene causes hair cell dysfunction and is associated with abnormal stereocilia development...
  45. Lelli A, Michel V, Boutet de Monvel J, Cortese M, Bosch Grau M, Aghaie A, et al. Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth. J Cell Biol. 2016;212:231-44 pubmed publisher
  46. Choudhary D, Kumar A, Magliery T, Sotomayor M. Using thermal scanning assays to test protein-protein interactions of inner-ear cadherins. PLoS ONE. 2017;12:e0189546 pubmed publisher
    ..fluorescent dye (SYPRO orange) is used to monitor melting temperature (Tm) shifts of protocadherin-15 EC1+2 (pcdh15) in the presence of increasing concentrations of cadherin-23 EC1+2 (cdh23)...
  47. Osako S, Hilding D. Electron microscopic studies of capillary permeability in normal and ames waltzer deaf mice. Acta Otolaryngol. 1971;71:365-76 pubmed
  48. Yan D, Kamiya K, Ouyang X, Liu X. Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice. Int J Exp Pathol. 2011;92:66-71 pubmed publisher
    ..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.
  49. Huertas Vazquez A, Plaisier C, Geng R, Haas B, Lee J, Greevenbroek M, et al. A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia. Hum Genet. 2010;127:83-9 pubmed publisher
    ..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...
  50. Nie H, Liu Y, Yin X, Cao H, Wang Y, Xiong W, et al. Plasma Membrane Targeting of Protocadherin 15 Is Regulated by the Golgi-Associated Chaperone Protein PIST. Neural Plast. 2016;2016:8580675 pubmed
    b>Protocadherin 15 (PCDH15) is a core component of hair cell tip-links and crucial for proper function of inner ear hair cells. Mutations of PCDH15 gene cause syndromic and nonsyndromic hearing loss...
  51. Jansen F, Kalbe B, Scholz P, Mikosz M, Wunderlich K, Kurtenbach S, et al. Impact of the Usher syndrome on olfaction. Hum Mol Genet. 2016;25:524-33 pubmed publisher
    ..In summary, this study provides novel insights into the presence and purpose of the Usher proteins in olfactory signal transduction. ..
  52. Calderon A, Derr A, Stagner B, Johnson K, Martin G, Noben Trauth K. Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res. 2006;221:44-58 pubmed
    ..Genome-wide linkage scans of backcross, intercross, and congenic progeny revealed a complex pattern of genetic and stochastic effects. ..
  53. Zallocchi M, Delimont D, Meehan D, Cosgrove D. Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells. J Neurosci. 2012;32:13841-59 pubmed publisher
    ..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...
  54. Chacon Heszele M, Ren D, Reynolds A, Chi F, Chen P. Regulation of cochlear convergent extension by the vertebrate planar cell polarity pathway is dependent on p120-catenin. Development. 2012;139:968-78 pubmed publisher
    ..Conversely, we found that Pcdh15 interacts genetically with PCP genes to regulate the formation of polar hair bundles, but not CE defects in the ..
  55. Benito A, Milner L, Leisenring W, Deeg H, Woolfrey A. Absence of major histocompatibility class II expression does not impair hematopoiesis in mice. Exp Hematol. 2001;29:1070-5 pubmed
  56. Mashimo T, Erven A, Spiden S, Guenet J, Steel K. Two quantitative trait loci affecting progressive hearing loss in 101/H mice. Mamm Genome. 2006;17:841-50 pubmed
    ..Finally, we found some evidence of epistatic interaction between Phl1 and Phl2. ..
  57. Zobeley E, Sufalko D, Adkins S, Burmeister M. Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10. Genomics. 1998;50:260-6 pubmed
    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...
  58. Sotomayor M, Weihofen W, Gaudet R, Corey D. Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction. Nature. 2012;492:128-32 pubmed publisher
    ..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)...
  59. Reiners J, Van Wijk E, Märker T, Zimmermann U, Jürgens K, te Brinke H, et al. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005;14:3933-43 pubmed
    ..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. ..