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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
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Møller et al., Copenhagen, Denmark. In Eur J Hum Genet, 31 Dec 2015
Duplications and deletions in PCDH15 and USH2A that lead to USH1 and USH2, respectively, have previously been identified in patients from United Kingdom, Spain and Italy.
High-throughput alternative splicing detection using dually constrained correspondence analysis (DCCA).
Brutsche et al., Sankt Gallen, Switzerland. In J Biomed Inform, 31 Dec 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, 31 Dec 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.
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, 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)).
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, Oct 2015
PCDH15 codes for protocadherin-15, a member of the cadherin superfamily of calcium-dependent cell-cell adhesion molecules.
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
Wu et al., Taipei, Taiwan. In Medicine (baltimore), Jul 2015
We identified genetic variants which are associated with poor CI outcomes in 7 (58%) of the 12 cases; 4 cases had bi-allelic PCDH15 pathogenic mutations and 3 cases were homozygous for the DFNB59 p.G292R variant.
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
Jiang et al., Guangzhou, China. In Int J Pediatr Otorhinolaryngol, Jul 2015
CONCLUSION: The novel homozygous mutation in a family segregating non-syndromic hearing loss family supports previous reported observations that PCDH15 does not only causes Usher syndrome type 1F, but also DFNB23.
Cone dystrophy in patient with homozygous RP1L1 mutation.
Takahashi et al., Chiba, Japan. In Biomed Res Int, 2014
NGS identified missense changes in the heterozygous state of the PCDH15, RPGRIP1, and GPR98 genes.
Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.
Wu et al., Shanghai, China. In Plos One, 2014
Novel pathogenic mutations were identified in four probands including the p.L416R/p.A438T compound heterozygous mutations in TMC1, the homozygous p.V1880E mutation in MYO7A, c.1238delT frameshifting deletion in PCDH15 and c.9690+1G>A splice site mutation in MYO15A.
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, 2014
In addition, we identify mutations in CLRN1, DFNB31, GPR98 and PCDH15 for the first time in Chinese USH patients.
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).
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.
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.
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.
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.
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.
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