RGD Reference Report - Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells.

Authors: Reiners, J  Reidel, B  El-Amraoui, A  Boeda, B  Huber, I  Petit, C  Wolfrum, U 
Citation: Reiners J, etal., Invest Ophthalmol Vis Sci 2003 Nov;44(11):5006-15.
RGD ID: 1303964
Pubmed: PMID:14578428   (View Abstract at PubMed)

PURPOSE: Human Usher syndrome is the most common form of combined deafness and blindness. Usher type I (USH1), the most severe form, is characterized by profound congenital deafness, constant vestibular dysfunction, and prepubertal onset retinitis pigmentosa. Previous studies have shown that the USH1-proteins myosin VIIa, harmonin, and cadherin 23 interact and form a functional network during hair cell differentiation in the inner ear. The purpose of the present study was to analyze the molecular and cellular functions of these USH1 proteins in the mammalian retina. METHODS: Antibodies to USH1 proteins were generated and used in Western blot analysis of subcellular photoreceptor fractions and immunofluorescence and electron microscopy of the retina. RESULTS: Splice variants of harmonin were differentially expressed in the photoreceptor cell compartments. Whereas harmonin b isoforms were restricted to the light-sensitive outer segment, the harmonin a and c isoforms were more ubiquitously distributed in the photoreceptors. At the synaptic terminal of photoreceptor cells, harmonin a and c colocalized with myosin VIIa and cadherin 23. CONCLUSIONS: USH1 molecules can assemble to a supramolecular complex at photoreceptor synapses. Such a complex may contribute to the cortical cytoskeletal matrices of the pre- and postsynaptic regions, which are thought to play a fundamental role in the organization of synaptic junctions. Dysfunction of any of the USH1 complex partners may lead to synaptic dysfunction causing retinitis pigmentosa, the clinical phenotype in the retina of patients with USH1. Furthermore, in photoreceptor outer segments, harmonin may also contribute to the clustering of outer segment proteins into supramolecular complexes.



Gene Ontology Annotations    Click to see Annotation Detail View

Cellular Component

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
Ush1cRatphotoreceptor inner segment  IDA  RGD 
Ush1cRatphotoreceptor outer segment  IDA  RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ush1c  (USH1 protein network component harmonin)

Objects referenced in this article
Gene Cdh23 cadherin related 23 (otocadherin) Mus musculus
Gene Ush1c USH1 protein network component harmonin Mus musculus

Additional Information