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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
Genome-wide association study on progression of carotid artery intima media thickness over 10 years in a Chinese cohort.
Wu et al., Beijing, China. In Atherosclerosis, 30 Nov 2015
However, using MLM, after adjusting for age, sex, number of cigarettes smoked per day, systolic blood pressure, use of antihypertensive drugs in the past 2 weeks, serum cholesterol, body mass index, fasting glucose levels, use of insulin or hypoglycemic drugs, time of measuring IMT and its interaction with SNP, we identified two novel SNPs (rs36071027 in EBF1 gene on chromosome 5 and rs975809 close to PCDH15 gene on chromosome 10) that are significantly associated with carotid IMT at genome level (p < 1 × 10(-7)) and seven novel SNPs (rs2230307 in AGL gene on chromosome 1, rs12040273 in GALNT2 gene on chromosome 1, rs4536103 in NEUROG3 gene on chromosome 10, rs9855415 in LOC647323 gene on chromosome 3, rs2472647 in PCDHGA1 gene on chromosome 5, rs17433780 in GBP3 gene on chromosome 1, and rs7625806 in DLEC1 gene on chromosome 3) which are suggestive of significant association (p < 10(-5)).
High-throughput alternative splicing detection using dually constrained correspondence analysis (DCCA).
Brutsche et al., Sankt Gallen, Switzerland. In J Biomed Inform, 16 Nov 2015
Splicing candidates reveal a series of genes related to carcinogenesis (SFTPB), cell adhesion (STAB2, PCDH15, HABP2), tumor aggressiveness (ARNTL2), apoptosis, proliferation and differentiation (PDE4D, FLT3, IL1R2), cell invasion (ETV1), as well as tumor growth (OLFM4, FGF14), tumor necrosis (AFF3) or tumor suppression (TUSC3, CSMD1, RHOBTB2, SERPINB5), with indication of known alternative splicing in a majority of genes.
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Najmabadi et al., Iowa City, United States. In J Med Genet, 07 Nov 2015
RESULTS: We established a genetic diagnosis for 67% of probands and their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23 and PCDH15.
Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss.
Wu et al., Shanghai, China. In Int J Pediatr Otorhinolaryngol, 31 Oct 2015
PCDH15 codes for protocadherin-15, a member of the cadherin superfamily of calcium-dependent cell-cell adhesion molecules.
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Sui et al., Houston, United States. In Orphanet J Rare Dis, Dec 2014
In addition, we identify mutations in CLRN1, DFNB31, GPR98 and PCDH15 for the first time in Chinese USH patients.
Usher protein functions in hair cells and photoreceptors.
Zallocchi et al., Omaha, United States. In Int J Biochem Cell Biol, 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.
Contribution of genetic factors to noise-induced hearing loss: a human studies 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.
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.
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).
Hair cells, plasma membrane Ca²⁺ ATPase and deafness.
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.
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.
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.
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.
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.
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.
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.
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
Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells.
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.
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.
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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