ArticleHuman molecular genetics2015
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 41 citations in OpenAlex.
- Usher Syndrome Type 2D Associated With a Novel Homozygous Whrn c.74dup Variant: A Case Report.Cureus · 2026Article
- Characterization of Usher Syndrome Type 2-Associated Proteins in the Retina via Affinity Purification-Mass Spectrometry.Molecular & cellular proteomics : MCP · 2026Article
- AFrontiers in cell and developmental biology · 2026Article
- Haploinsufficiency of Whrn Contributes to Progressive Sensorineural Hearing Loss in C57BL6 Mice.Journal of the Association for Research in Otolaryngology : JARO · 2025Article
- Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.Genome research · 2025Article
- Article
- Temporal and spatial assembly of inner ear hair cell ankle link condensate through phase separation.Nature communications · 2023Article
- Alternative splicing in shaping the molecular landscape of the cochlea.Frontiers in cell and developmental biology · 2023Review
- Deafness-related protein PDZD7 forms complex with the C-terminal tail of FCHSD2.The Biochemical journal · 2022Article
- Espin overexpression causes stereocilia defects and provides an anti-capping effect on actin polymerization.Cytoskeleton (Hoboken, N.J.) · 2022Article
- Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated withInternational journal of molecular sciences · 2022Article
- Progress in protecting vestibular hair cells.Archives of toxicology · 2021Review
- Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells.Scientific reports · 2020Article
- Mechanotransduction-Dependent Control of Stereocilia Dimensions and Row Identity in Inner Hair Cells.Current biology : CB · 2020Article
- Molecular characterization of a whirlin-like protein with biomineralization-related functions from the shell of Mytilus coruscus.PloS one · 2020Article
- Lack of PDZD7 long isoform disrupts ankle-link complex and causes hearing loss in mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II.Molecular medicine reports · 2019Article
- Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.Hearing research · 2019Review
- GPSM2-GNAI Specifies the Tallest Stereocilia and Defines Hair Bundle Row Identity.Current biology : CB · 2019Article
- Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.The Journal of molecular diagnostics : JMD · 2018Article
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Authors and funding
11 authors at 2 institutions in 3 countries.
Funding
Abstract
Usher syndrome (USH) is the most common inherited deaf-blindness with the majority of USH causative genes also involved in nonsyndromic recessive deafness (DFNB). The mechanism underlying this disease variation of USH genes is unclear. Here, we addressed this issue by investigating the DFNB31 gene, whose mutations cause USH2D or DFNB31 depending on their position. We found that the mouse DFNB31 ortholog (Dfnb31) expressed different mRNA variants and whirlin protein isoforms in the cochlea and retina, where these isoforms played different roles spatially and temporally. Full-length (FL-) whirlin in photoreceptors and hair cell stereociliary bases is important for the USH type 2 protein complex, while FL- and C-terminal (C-) whirlins in hair cell stereociliary tips participate in stereociliary elongation. Mutations in the whirlin N-terminal region disrupted FL-whirlin isoform in the inner ear and retina but not C-whirlin in the inner ear, and led to retinal degeneration as well as moderate to severe hearing loss. By contrast, a mutation in the whirlin C-terminal region eliminated all normal whirlin isoforms but generated a truncated N-terminal whirlin protein fragment, which was partially functional in the retina and thus prevented retinal degeneration. Mice with this mutation had profound hearing loss. In summary, disruption of distinct whirlin isoforms by Dfnb31 mutations leads to a variety of phenotype configurations and may explain the mechanism underlying the different disease manifestations of human DFNB31 mutations. Our findings have a potential to improve diagnosis and treatment of USH disease and quality of life in USH patients.
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