ArticleInvestigative ophthalmology & visual science2010
Severe retinal degeneration caused by a novel rhodopsin mutation.
Article in Investigative ophthalmology & visual science, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 20 citations in OpenAlex.
- Machine Learning-Based Classification of Active and Latent Phases of Inherited Retinal Dystrophies Using Synthetic Proteomic Data: A Pathway-Based Application Exercise.Healthcare informatics research · 2026Article
- Prediction of Postoperative Length of Stay in Patients with Hip Fracture: A Two-Stage Machine Learning Approach.Healthcare informatics research · 2026Article
- Identification and Characterization of Retinitis Pigmentosa in a Novel Mouse Model Caused by PDE6B-T592I.Biomedicines · 2023Article
- Deletion of the Unfolded Protein Response Transducer IRE1α Is Detrimental to Aging Photoreceptors and to ER Stress-Mediated Retinal Degeneration.Investigative ophthalmology & visual science · 2023Article
- Oxidative stress and mitochondrial transfer: A new dimension towards ocular diseases.Genes & diseases · 2022Review
- Loss of Ciliary GeneFrontiers in cell and developmental biology · 2021Article
- Review
- Pattern of retinal morphological and functional decay in a light-inducible, rhodopsin mutant mouse.Scientific reports · 2017Article
- Article
- Endoplasmic reticulum stress in vertebrate mutant rhodopsin models of retinal degeneration.Advances in experimental medicine and biology · 2014Article
- Induction of endoplasmic reticulum stress genes, BiP and chop, in genetic and environmental models of retinal degeneration.Investigative ophthalmology & visual science · 2012Article
- Selective activation of ATF6 and PERK endoplasmic reticulum stress signaling pathways prevent mutant rhodopsin accumulation.Investigative ophthalmology & visual science · 2012Article
- N -ethyl- N -nitrosourea induces retinal photoreceptor damage in adult rats.Journal of toxicologic pathology · 2012Article
- IRE1 directs proteasomal and lysosomal degradation of misfolded rhodopsin.Molecular biology of the cell · 2012Article
- Gene therapy in animal models of autosomal dominant retinitis pigmentosa.Molecular vision · 2012Review
- Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo identify a new mouse mutation developing early-onset dominant retinal degeneration, to determine the causative gene mutation, and to investigate the underlying mechanism.
methodsRetinal phenotype was examined by indirect ophthalmoscopy, histology, transmission electron microscopy, immunohistochemistry, Western blot analysis, and electroretinography. Causative gene mutation was determined by genomewide linkage analysis and DNA sequencing. Structural modeling was used to predict the impact of the mutation on protein structure.
resultsAn ENU-mutagenized mouse line (R3), displaying attenuated retinal vessels and pigmented patches, was identified by fundus examination. Homozygous R3/R3 mice lost photoreceptors rapidly, leaving only a single row of photoreceptor nuclei at postnatal day 18. The a- and b-waves of ERG were flat in R3/R3 mice, whereas heterozygous R3/+ mice showed reduced amplitude of a- and b-waves. The R3/+ mice had a slower rate of photoreceptor cell loss than compound heterozygous R3/- mice with a null mutant allele. The R3 mutation was mapped and verified to be a rhodopsin point mutation, a c.553T>C for a p.C185R substitution. The side chain of Arg(185) impacted on the extracellular loop of the protein. Mutant rhodopsin-C185R protein accumulated in the photoreceptor inner segments, cellular bodies, or both.
conclusionsRhodopsin C185R mutation leads to severe retinal degeneration in R3 mutant mice. A dosage-dependent accumulation of misfolded mutant proteins likely triggers or stimulates the death of rod photoreceptors. The presence of a wild-type rhodopsin allele can delay the loss of photoreceptor cells in R3/+ mice.
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