Ask about this productRelated genes to: PCDH15 antibody
- Gene:
- PCDH15 NIH gene
- Name:
- protocadherin related 15
- Previous symbol:
- USH1F, DFNB23
- Synonyms:
- CDHR15
- Chromosome:
- 10q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-02-27
- Date modifiied:
- 2016-06-08
Related products to: PCDH15 antibody
Related articles to: PCDH15 antibody
- Variants of at least twenty-seven human genes are associated with stable or progressive nonsyndromic moderate to severe hearing loss inherited as a recessive condition. We ascertained 54 consanguineous families, predominantly from the Punjab province in Pakistan, with multiple individuals affected by moderate to severe or progressively profound hearing loss. After Sanger sequencing identified 4 families with GJB2 variants or a non-coding pathogenic variant in HGF, exome sequencing was carried out for selected samples from the remaining 50 families. Analyses revealed a total of 24 novel and 33 reported variants in 26 different genes associated with hearing loss. Overall, there were 23 missense variants, 3 in-frame deletions and 1 intronic deletion, while 30 variants likely impacted splicing, introduced premature termination codons or caused frameshifts. Thus, over half of the alleles are predicted to severely impair gene function. Genetic heterogeneity was observed in members of 9 families. Variants of SLC26A4 were key contributors with a frequency of 30%, while those affecting CDH23, MYO15A, GJB2 and OTOF explained 28% of hearing loss. Our findings corroborate the contribution of many well-studied gene variants associated with hearing loss and also implicate LHFPL5 and PCDH15 in the etiology of moderate or progressive hearing loss. - Source: PubMed
Publication date: 2026/05/05
Ramzan MemoonaIdrees HafizaKhan HinaFaridi RabiaMunir ZunairaMuzaffar FarihaShabbir KanwalImtiaz AyeshaNoman MuhammadAhmed AlinaBashir RasheedaKhan Niaz MuhammadMaqsood AzraMujtaba GhulamSalman MidhatBukhari IhtishamMunir Hafiz Muhammad WaqasTariq HumaWaqas MuhammadIqbal Muhammad NWohler ElizabethWitmer P DaneSobreira NaraMorell Robert JSeo Go HunInagaki SayakaFriedman Thomas BNaz Sadaf - Cone-rod dystrophy (CRD) is a macular degeneration disorder characterized by initial cone cell degeneration. Mutations in CDHR1, a photoreceptor-specific cadherin, have been found to be associated with the incidence of CRD. While studying the function of CDHR1, we observed that the localization of the zebrafish homologue, cdhr1a, resembles that of calyceal process (CPs). When co-labeling CPs using pcdh15b, we observed that cdhr1a, in the outer segment (OS), juxtaposes with pcdh15b, found in the CP. Similar localization patterns were detected in human, macaque, xenopus, ducks, gerbil, and mouse. Using immunoprecipitation and K652 cell aggregation assays, we demonstrate that pcdh15b and cdhr1a can interact and thus potentially link the OS and CP. To analyze the consequences of OS-CP interactions in CRD, we established a mutant line (). Homozygous mutants exhibit minor cone OS defects starting at 15 dpf and severe OS disruption and cell loss by 3 months. Shortening of CPs coincided with cone OS defects which were significantly exacerbated when combined with the loss of pcdh15b. Rod OS defects were mild and delayed until 3-6 months. In conclusion, we propose that cdhr1a and pcdh15b function to link cone OSs with CPs and maintain OS integrity. - Source: PubMed
Publication date: 2026/04/17
Patel Meet KPiedade Warlen PereiraFamulski Jakub K - Mature body size and weight of sheep are important traits that significantly influence mutton yield and economic benefits of sheep farming. The exploration for key genes underlying these traits will facilitate the advancement of molecular breeding in meat sheep. In this study, key candidate genes for five body size traits and the body weight were identified in mature Huameng meat sheep through GWAS and ROH analysis. After quality control, 451 individuals and 16 751 761 variants were analyzed using EMMAX software in a linear mixed model (LMM). A total of 3 genome-wide and 35 chromosome-wide significant SNPs were identified, respectively. Several key candidate genes have been uncovered, including ZFAT, ACSL3, and GRID2 for cannon bone circumference; UNC5C and BMPR1B for body weight and chest girth; PCDH15 and NUP93 for hip width; and PTPRD for body height. ROH analysis revealed a high-frequency ROH hotspot region on chrX. In addition, ROH analysis suggested that inbreeding may lead to a significant depression in body height of sheep. This study provides important clues for revealing the molecular mechanisms underlying sheep body morphological traits and identifies key candidate genes for molecular breeding in meat sheep. - Source: PubMed
Wang Y FGong Y MChen H SWang Y FChen Q JChen KSong Y ZMeng ZZhang G QLi HChu M XDi R - Genetic diseases in goats are less well characterized than in other livestock species. This study reports a previously unrecognized congenital neurological disorder in Bunte Deutsche Edelziege goats and identifies its likely genetic cause. Between 2019 and 2023, a dairy goat farm observed 21 kids with congenital vestibular disease. The affected kids displayed pronounced, sometimes exuberant, wide bilateral excursions of the head and neck, delayed standing, wide-based stance, and poor postural control, while remaining alert and physically strong. Motor coordination improved with age. One retained female displayed mild persistent deficits and suspected hearing impairment in adulthood. Postmortem examinations were unremarkable, and infectious or nutritional causes were excluded. The repeated occurrence and pedigree structure suggested an inherited autosomal recessive disorder. Whole-genome sequencing of two affected kids, compared with large control cohorts, revealed a single rare nonsense variant in exon 5 of the gene encoding protocadherin-15. This variant truncates approximately 93% of the protein and is homologous to a pathogenic variant that causes Usher syndrome type 1F in humans. Sanger sequencing confirmed homozygosity in affected animals and heterozygosity in obligate carriers. The variant was absent from 90 unrelated goats of the same breed and over 1600 global controls. These findings indicate a naturally occurring Usher syndrome-like disorder in goats, representing the first such report, and highlight the value of genomic diagnostics for disease prevention and comparative research. The study provides a basis for the molecular diagnosis of similarly affected animals, as well as for genetic testing to prevent further cases. - Source: PubMed
Publication date: 2026/03/18
Petzl EvaJacinto JoanaAroz María ClimentSuntz MichaelKarl MichaelPlobner LutzMatiasek KasparFischer AndreaHannemann ReginaBalasopoulou ViktoriaZerbe HolmBrühschwein AndreasDrögemüller CordLetko Anna - Tip links connect the stereocilia of mechanosensory hair cells in the inner ear and transmit force onto mechanotransduction (MET) channels. Tip links consist of protocadherin 15 (PCDH15) and cadherin 23 (CDH23), which assemble into an extracellular filament approximately 150 nm in length. Rare freeze-etched electron microscopy (EM) images have suggested that tip links could be right-handed double helices in vivo, but direct structural evidence has been lacking. Using cryo-EM we determined the structure of a large part of the extracellular PCDH15 domain. Two PCDH15 molecules form a parallel cis dimer stabilized by several dimerization interfaces, including two strand crossovers and two parallel contacts, yielding a right-handed double helix. Functional studies show that mutations in PCDH15 dimerization-domains impair MET. Our results establish the molecular foundation for how PCDH15 forms a right-handed double helix to enable mechanical sensing. - Source: PubMed
Publication date: 2026/03/04
Liang XiaopingPathak RoshanQiu XufengDillard LucasTwomey Edward CMüller Ulrich