ArticleHuman molecular genetics2017
The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 42 citations in OpenAlex.
- Age-associated changes in the shell gland transcriptomics and eggshell quality of broiler breeder hens.BMC genomics · 2026Article
- Adeno-associated virus-based rescue of Myo7a expression restores hair-cell function and improves hearing thresholds in a USH1B mouse strain.The Journal of physiology · 2025Article
- Exon Skipping Therapy Restores Ciliary Function in USH2A-Related Retinal Degeneration.Investigative ophthalmology & visual science · 2025Article
- The Diverse Functions of the Calcium- and Integrin-Binding Protein Family.International journal of molecular sciences · 2025Review
- MYO7A is required for the functional integrity of the mechanoelectrical transduction complex in hair cells of the adult cochlea.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to the base of primary cilia.Frontiers in cell and developmental biology · 2025Article
- Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.Communications biology · 2023Article
- Article
- 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
- The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.Nature communications · 2023Article
- Towards a Cure for HARS Disease.Genes · 2023Review
- Myosin motors in sensory hair bundle assembly.Current opinion in cell biology · 2022Review
- Deafness-related protein PDZD7 forms complex with the C-terminal tail of FCHSD2.The Biochemical journal · 2022Article
- Usher Syndrome.Audiology research · 2022Review
- Deciphering the Molecular Interaction Between the Adhesion G Protein-Coupled Receptor ADGRV1 and its PDZ-Containing Regulator PDZD7.Frontiers in molecular biosciences · 2022Article
- SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes.Nucleic acids research · 2021Article
- The many roles of myosins in filopodia, microvilli and stereocilia.Current biology : CB · 2021Review
- Phylogenetic analysis of Harmonin homology domains.BMC bioinformatics · 2021Article
- Atypical and ultra-rare Usher syndrome: a review.Ophthalmic genetics · 2020Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Usher syndrome (USH) is the most common cause of inherited deaf-blindness, manifested as USH1, USH2 and USH3 clinical types. The protein products of USH2 causative and modifier genes, USH2A, ADGRV1, WHRN and PDZD7, interact to assemble a multiprotein complex at the ankle link region of the mechanosensitive stereociliary bundle in hair cells. Defects in this complex cause stereociliary bundle disorganization and hearing loss. The four USH2 proteins also interact in vitro with USH1 proteins including myosin VIIa, USH1G (SANS), CIB2 and harmonin. However, it is unclear whether the interactions between USH1 and USH2 proteins occur in vivo and whether USH1 proteins play a role in USH2 complex assembly in hair cells. In this study, we identified a novel interaction between myosin VIIa and PDZD7 by FLAG pull-down assay. We further investigated the role of the above-mentioned four USH1 proteins in the cochlear USH2 complex assembly using USH1 mutant mice. We showed that only myosin VIIa is indispensable for USH2 complex assembly at ankle links, indicating the potential transport and/or anchoring role of myosin VIIa for USH2 proteins in hair cells. However, myosin VIIa is not required for USH2 complex assembly in photoreceptors. We further showed that, while PDZ protein harmonin is not involved, its paralogous USH2 proteins, PDZD7 and whirlin, function synergistically in USH2 complex assembly in cochlear hair cells. In summary, our studies provide novel insight into the functional relationship between USH1 and USH2 proteins in the cochlea and the retina as well as the disease mechanisms underlying USH1 and USH2.
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