PCDH15 Pre-design Chimera RNAi
- Known as:
- PCDH15 Pre-design Chimera RNAi
- Catalog number:
- H00065217-R01
- Product Quantity:
- 20 nmol
- Category:
- -
- Supplier:
- Abno
- Gene target:
- PCDH15 Pre-design Chimera RNAi
Related genes to: PCDH15 Pre-design Chimera RNAi
- 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 Pre-design Chimera RNAi
Related articles to: PCDH15 Pre-design Chimera RNAi
- To identify rare and common copy number variants (CNVs) associated with strabismus and amblyopia. - Source: PubMed
Lee Kyoung A ViolaWhitman Mary C - 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, 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: 2026/06/09
Liang XiaopingPathak RoshanQiu XufengDillard LucasTwomey Edward CMüller Ulrich
- Source: PubMed
- Source: PubMed
- With orthologs for >70% of human genes, zebrafish represent a popular model for investigating development and disease, particularly when murine models are unsuitable. One caveat of zebrafish genetic models is the prevalence of paralogs, where compensation and transcriptional adaptation can complicate our understanding. Usher syndrome type 1 F (USH1F), caused by PCDH15 mutations, exemplifies the need for alternatives models; the primary site of injury, calyceal processes (CP), are uniquely lacking from photoreceptors of nocturnal rodents. Here we demonstrate that contrary to previous reports, zebrafish pcdh15a/b paralogs are not absolutely restricted to ear and eye tissues respectively. Instead, both paralogs are expressed and required in the mechanosensitive hair cells and retinal photoreceptors. Double mutants present the most severe phenotypes: loss of kinocilial and stereocilial links in the ear, and disorganization of CPs, inner/outer segment detachment, and photoreceptor cell death. We also demonstrate that ear and eye-specific phenotypes may be isolated via isoform-specific knockout. These data highlight the strengths of zebrafish to study pathomechanism in vivo. They should also caution researchers from defining paralogs as discrete, absolutely restricted functional units without exceptional evidence. When possible, double mutants may be preferable for studying gene function, and modelling diseases where humans have a single ortholog. - Source: PubMed
Publication date: 2026/05/18
Chrystal Paul WKuzmanova LisaLiu JingpinIzvorean AlexaMajeed IshmaelTjoenardi Jefferson FLin QianTropepe Vincent