ArticleHuman molecular genetics2023
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Article in Human molecular genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- Single-cell analysis reveals impaired Müller glia-mediated intercellular communication and photoreceptor pathology in USH1C retinal organoids.Cellular and molecular life sciences : CMLS · 2026Article
- Protocol for the isolation, culturing, and evaluation of primary Müller glial cells from pig retina as cellular models in health and disease.STAR protocols · 2026Article
- Nonsense Mutation inInternational journal of molecular sciences · 2026Article
- Development of Retinal Astroglia.Annual review of vision science · 2025Review
- Single-molecule fluorescence microscopy reveals regulatory mechanisms of MYO7A-driven cargo transport in stereocilia of live inner ear hair cells.Nature communications · 2025Article
- The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.PLoS genetics · 2025Article
- Safety of Human USH1C Transgene Expression Following Subretinal Injection in Wild-Type Pigs.Investigative ophthalmology & visual science · 2025Article
- Identification of Unexpected Pathomechanisms Underlying the Human Usher Syndrome.Advances in experimental medicine and biology · 2025Review
- Phototactic preference and its genetic basis in the planulae of the colonial HydrozoanbioRxiv : the preprint server for biology · 2024Article
- The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.bioRxiv : the preprint server for biology · 2024Article
- Pathogenic Variants inInternational journal of molecular sciences · 2023Article
- Review
- The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling.Frontiers in cell and developmental biology · 2023Article
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Authors and funding
28 authors at 9 institutions in 2 countries.
Funding
Abstract
Usher syndrome (USH) is the most common form of hereditary deaf-blindness in humans. USH is a complex genetic disorder, assigned to three clinical subtypes differing in onset, course and severity, with USH1 being the most severe. Rodent USH1 models do not reflect the ocular phenotype observed in human patients to date; hence, little is known about the pathophysiology of USH1 in the human eye. One of the USH1 genes, USH1C, exhibits extensive alternative splicing and encodes numerous harmonin protein isoforms that function as scaffolds for organizing the USH interactome. RNA-seq analysis of human retinae uncovered harmonin_a1 as the most abundant transcript of USH1C. Bulk RNA-seq analysis and immunoblotting showed abundant expression of harmonin in Müller glia cells (MGCs) and retinal neurons. Furthermore, harmonin was localized in the terminal endfeet and apical microvilli of MGCs, presynaptic region (pedicle) of cones and outer segments (OS) of rods as well as at adhesive junctions between MGCs and photoreceptor cells (PRCs) in the outer limiting membrane (OLM). Our data provide evidence for the interaction of harmonin with OLM molecules in PRCs and MGCs and rhodopsin in PRCs. Subcellular expression and colocalization of harmonin correlate with the clinical phenotype observed in USH1C patients. We also demonstrate that primary cilia defects in USH1C patient-derived fibroblasts could be reverted by the delivery of harmonin_a1 transcript isoform. Our studies thus provide novel insights into PRC cell biology, USH1C pathophysiology and development of gene therapy treatment(s).
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