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proteins. Page last changed on 14 Mar 2013.
Protocadherin-related 15
PCDH15, protocadherin 15, USH1F, Ames waltzer
This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008] (from
NCBI)
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Papers on
PCDH15
Cyclic Nucleotide-gated Channel α-3 (CNGA3) Interacts with Stereocilia Tip-Link Cadherin 23 + Exon 68 or Alternatively with Myosin VIIa, Two Proteins Required for Hair Cell Mechanotransduction.
New
In J Biol Chem, 08 Apr 2013
Together with the demonstration of protein-protein interaction between HCN1 and tip-link protein protocadherin 15 CD3 (Ramakrishnan, N. A., Drescher, M. J., Barretto, R. L., Beisel, K. W., Hatfield, J. S., and Drescher, D. G. (2009) J. Biol.
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.
New
Cleveland, United States. In J Neurosci, 06 Apr 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.
Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.
New
St. John's, Canada. In Eur J Hum Genet, 27 Mar 2013
We identified a multiplex (n=28 affected) family from the genetic isolate of Newfoundland, Canada with variable SNHL and used a targeted sequencing approach based on population-specific alleles in WFS1, TMPRSS3 and PCDH15; recurrent mutations in GJB2 and GJB6; and frequently mutated exons of KCNQ4, COCH and TECTA.
Contribution of genetic factors to noise-induced hearing loss: a human studies review.
New
Łódź, Poland. In Mutat Res, Jan 2013
So far, the most promising results were obtained for two genes encoding potassium ion channels (KCNQ4 and KCNE1), catalase (CAT), protocadherin 15 (PCDH15), myosin 14 (MYH14) and heat shock protein (HSP70), because they were replicated in two (Polish and Swedish) or three (Polish, Swedish and Chinese) populations, and were sufficient in size to yield high power for the detection of a causative allele.
TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells.
New
Impact
Los Angeles, United States. In Cell, Jan 2013
TMHS binds to the tip-link component PCDH15 and regulates tip-link assembly, a process that is disrupted by deafness-causing Tmhs mutations.
Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction.
New
Impact
Boston, United States. In Nature, Jan 2013
Mechanical force from sound waves or head movements is conveyed 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).
Hair cells, plasma membrane Ca²⁺ ATPase and deafness.
Review
New
Padova, Italy. In Int J Biochem Cell Biol, May 2012
They are organized in bundles by tip-link filaments composed of cadherin 23 and protocadherin 15.
Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2.
Columbia, United States. In Plos One, 2011
Several of the top candidate 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.
The plasma membrane calcium pump in the hearing process: physiology and pathology.
Review
Padova, Italy. In Sci China Life Sci, 2011
The tip links that organize the bundle are formed by the Ca(2+) binding protein cadherin 23 and by protocadherin 15: Disturbances of the Ca(2+) binding by cadherin 23 and/or of the ability of the PMCA2 variant of the stereocilia to export Ca(2+) to the endolymph generate hearing loss phenotypes.
Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain.
GeneRIF
Los Angeles, United States. In Development, 2011
Findings reveal an essential role for PCDH15-CD2 in the formation of kinociliary links and hair bundle polarization, and show that several PCDH15 isoforms can function redundantly at tip links.
Non-clustered protocadherin.
Review
Seoul, South Korea. In Cell Adh Migr, 2011
The phylogenetic analysis with full sequences of non-clustered PCDHs enabled them to be further classified into three subgroups: δ1 (PCDH1, PCDH7, PCDH9, PCDH11 and PCDH20), δ2 (PCDH8, PCDH10, PCDH12, PCDH17, PCDH18 and PCDH19) and ε (PCDH15, PCDH16, PCDH21 and MUCDHL).
Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice.
GeneRIF
Miami, United States. In Int J Exp Pathol, 2011
we examine the effects of null mutation of the Ush1c gene on subcellular localization of Myo7a, Pcdh15 and Sans in the inner ear.
Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells.
GeneRIF
Cleveland, United States. In Plos One, 2010
results therefore provide genetic evidence consistent with PCDH15 and CDH23 being part of the tip-link complex and necessary for normal mechanotransduction
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.
GeneRIF
Valencia, Spain. In Invest Ophthalmol Vis Sci, 2010
a combination of PCR-based mutation screening, together with deletion and duplication analysis, is mandatory for the accurate screening of the PCDH15 gene in Usher patients.
Development and regeneration of sensory transduction in auditory hair cells requires functional interaction between cadherin-23 and protocadherin-15.
GeneRIF
Charlottesville, United States. In J Neurosci, 2010
The development and regeneration of sensory transduction in auditory hair cells requires the functional interaction of protocadherin-15 with cadherin-23.
Cadherins as targets for genetic diseases.
Review
Paris, France. In Cold Spring Harb Perspect Biol, 2010
Studies of USH1 brought to light the crucial role of transient fibrous links formed by cadherin 23 and protocadherin 15 in the cohesion of the developing hair bundle, the mechanoreceptive structure of the auditory sensory cells, as well as the involvement of these cadherins in the formation of the tip-link, a key component of the mechano-electrical transduction machinery.
Tip links in hair cells: molecular composition and role in hearing loss.
Review
Kyoto, Japan. In Curr Opin Otolaryngol Head Neck Surg, 2009
RESULTS: Structural, histological and biochemical studies show that the extracellular domains of two deafness-associated cadherins, cadherin 23 (CDH23) and protocadherin 15 (PCDH15), interact in trans to form the upper and lower part of each tip link, respectively.
Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.
Impact
Los Angeles, United States. In Nature, 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.
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.
Impact
Cleveland, United States. In Nat Genet, 2001
Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia.
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Impact
Hamburg, Germany. In Nat Genet, 2001
So far, six loci (USH1A-USH1F) have been mapped, but only two USH1 genes have been identified: MYO7A for USH1B and the gene encoding harmonin for USH1C.
