Genomes and Genes
Gene Symbol: Pcdh15
Description: protocadherin related 15
Alias: protocadherin-15, protocadherin 15
- 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 pubmedRecessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F)...
- 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...
- 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. ..
- 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..Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear. ..
- 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 pubmedWe 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...
- 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..A human homologue of av is predicted to lie either on 22q11.2 or on 10q21. The orientation of conserved linkage groups between these two human chromosomal regions relative to mouse Chromosome 10 was determined. ..
- 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. ..
- 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...
- 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 ..
- 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 pubmedMutations 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...
- 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 pubmedMutation in the protocadherin 15 (Pcdh15) gene causes hair cell dysfunction and is associated with abnormal stereocilia development...
- Wright A, Chakarova C, Abd El Aziz M, Bhattacharya S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11:273-84 pubmed publisher..Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise. ..
- 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 pubmedMutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans...
- Kazmierczak P, Muller U. Sensing sound: molecules that orchestrate mechanotransduction by hair cells. Trends Neurosci. 2012;35:220-9 pubmed publisher..We review here recent studies that have both identified some of these molecules and established the mechanisms by which they regulate the activity of the still-elusive mechanotransduction channel. ..
- 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..These changes are followed by degeneration of the cochlear and vestibular neuroepithelium. ..
- 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..However, by 50 days, degenerative changes are evident in the saccular macula, which progresses to total loss of the saccular neuroepithelium in older animals. The new allele of av reported here will be designated av(TgN2742Rpw). ..