ArticleThe Journal of biological chemistry2014
Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.
Article in The Journal of biological chemistry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 58 citations in OpenAlex.
- Current Advances and Applications of Retinal Organoids.Neuroscience bulletin · 2026Review
- Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.Molecular & cellular proteomics : MCP · 2026Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.BMC medical genomics · 2024Article
- Novel pathogenic WHRN variant causing hearing loss in a moroccan family.Molecular biology reports · 2023Article
- Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Adenylyl cyclase 6 plays a minor role in the mouse inner ear and retina.Scientific reports · 2023Article
- Temporal and spatial assembly of inner ear hair cell ankle link condensate through phase separation.Nature communications · 2023Article
- Liquid-liquid phase separation in hair cell stereocilia development and maintenance.Computational and structural biotechnology journal · 2023Review
- Deafness-related protein PDZD7 forms complex with the C-terminal tail of FCHSD2.The Biochemical journal · 2022Article
- Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.BMC medical genomics · 2022Article
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022Review
- Targeting PDZ domains as potential treatment for viral infections, neurodegeneration and cancer.Biology direct · 2021Review
- Characteristics of Retinitis Pigmentosa Associated withInternational journal of molecular sciences · 2021Article
- A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.BMC medical genomics · 2021Article
- Structure and Membrane Targeting of the PDZD7 Harmonin Homology Domain (HHD) Associated With Hearing Loss.Frontiers in cell and developmental biology · 2021Article
- N-Terminus of GRXCR2 Interacts With CLIC5 and Is Essential for Auditory Perception.Frontiers in cell and developmental biology · 2021Article
- USH2A-retinopathy: From genetics to therapeutics.Experimental eye research · 2020Review
- Atypical and ultra-rare Usher syndrome: a review.Ophthalmic genetics · 2020Review
- Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation.Clinical and experimental otorhinolaryngology · 2020Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Usher syndrome (USH) is the leading genetic cause of combined hearing and vision loss. Among the three USH clinical types, type 2 (USH2) occurs most commonly. USH2A, GPR98, and WHRN are three known causative genes of USH2, whereas PDZD7 is a modifier gene found in USH2 patients. The proteins encoded by these four USH genes have been proposed to form a multiprotein complex, the USH2 complex, due to interactions found among some of these proteins in vitro, their colocalization in vivo, and mutual dependence of some of these proteins for their normal in vivo localizations. However, evidence showing the formation of the USH2 complex is missing, and details on how this complex is formed remain elusive. Here, we systematically investigated interactions among the intracellular regions of the four USH proteins using colocalization, yeast two-hybrid, and pull-down assays. We show that multiple domains of the four USH proteins interact among one another. Importantly, both WHRN and PDZD7 are required for the complex formation with USH2A and GPR98. In this USH2 quaternary complex, WHRN prefers to bind to USH2A, whereas PDZD7 prefers to bind to GPR98. Interaction between WHRN and PDZD7 is the bridge between USH2A and GPR98. Additionally, the USH2 quaternary complex has a variable stoichiometry. These findings suggest that a non-obligate, short term, and dynamic USH2 quaternary protein complex may exist in vivo. Our work provides valuable insight into the physiological role of the USH2 complex in vivo and informs possible reconstruction of the USH2 complex for future therapy.
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