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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 02 Oct 2014.

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)
Top mentioned proteins: Protocadherin, HAIR, CDH23, myosin VIIa, CAN
Papers on PCDH15
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
New
De Baere et al., Gent, Belgium. In Genet Med, 30 Sep 2014
RESULTS: We identified mutations in 14 known retinal dystrophy genes in 20/26 (77%) families: ABCA4, CERKL, CLN3, CNNM4, C2orf71, IQCB1, LRAT, MERTK, NMNAT1, PCDH15, PDE6B, RDH12, RPGRIP1, and USH2A.
Usher protein functions in hair cells and photoreceptors.
New
Zallocchi et al., Omaha, United States. In Int J Biochem Cell Biol, Jan 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 actin cytoskeleton core to the shorter adjacent stereocilia and the elusive mechanotransduction channels, explaining the deafness phenotype when these molecular interactions are perturbed.
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
New
Usami et al., Matsumoto, Japan. In Plos One, Dec 2013
We report here four patients, who had probable pathogenic mutations in two different Usher syndrome type 1 genes, and one case of MYO7A/PCDH15 digenic inheritance.
The circling mutant Pcdh15roda is a new mouse model for hearing loss.
New
Godard et al., Belo Horizonte, Brazil. In Mutat Res, Nov 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.
Contribution of genetic factors to noise-induced hearing loss: a human studies review.
Review
Pawelczyk et al., Łódź, Poland. In Mutat Res, 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.
Impact
Müller et al., Los Angeles, United States. In Cell, 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.
Impact
Corey et al., Boston, United States. In Nature, 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).
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
Matsunaga et al., Tokyo, Japan. In Orphanet J Rare Dis, 2012
These genes were ACTG1, DFNA5, POU4F3, SLC26A5, SIX1, MYO7A, CDH23, PCDH15, and USH2A, suggesting that a variety of genes underlie early-childhood hearing loss in Japanese patients.
Hair cells, plasma membrane Ca²⁺ ATPase and deafness.
Review
Carafoli et al., Padova, Italy. In Int J Biochem Cell Biol, 2012
They are organized in bundles by tip-link filaments composed of cadherin 23 and protocadherin 15.
Role for a novel Usher protein complex in hair cell synaptic maturation.
GeneRIF
Cosgrove et al., Omaha, United States. In Plos One, 2011
A novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1, was identified.
Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.
GeneRIF
MacDonald et al., Beijing, China. In Mol Vis, 2011
Alberta Hutterites with Usher syndrome type I do not carry the exon 10 mutation in the PCDH15 gene.
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
GeneRIF
Kimberling et al., Valencia, Spain. In Mol Vis, 2011
Seven different point mutations, five novel, were detected in PCDH15 gene in Spanish patients with Usher syndrome type I.
The plasma membrane calcium pump in the hearing process: physiology and pathology.
Review
Carafoli, 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
Müller et al., 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
Kim et al., 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).
Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells.
GeneRIF
Richardson et al., 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
Cadherins as targets for genetic diseases.
Review
Petit et al., 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.
Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.
Impact
Kachar et al., 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
Woychik et al., 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
Kubisch et al., 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.
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