ArticleThe American journal of pathology2014
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.
Article in The American journal of pathology, 2014. 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, 18 citations in OpenAlex.
- Article
- Outer Retinal Thickness Is Associated With Cognitive Function in Normal Aging to Intermediate Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2024Article
- A defective structural zipper in photoreceptors causes inherited blindness.PLoS biology · 2022Article
- A mouse model of cone photoreceptor function lossFrontiers in molecular neuroscience · 2022Article
- Role of Optical Coherence Tomography in Identifying Retinal Biomarkers in Frontotemporal Dementia: A Review.Neurology. Clinical practice · 2021Review
- Forward genetic analysis using OCT screening identifiesProceedings of the National Academy of Sciences of the United States of America · 2020Article
- BiallelicMolecular vision · 2020Article
- Functional Genomics of the Retina to Elucidate its Construction and Deconstruction.International journal of molecular sciences · 2019Review
- Reduced expression of theMolecular vision · 2019Article
- Persistent and Progressive Outer Retina Thinning in Frontotemporal Degeneration.Frontiers in neuroscience · 2019Article
- Optical coherence tomography identifies outer retina thinning in frontotemporal degeneration.Neurology · 2017Article
- OCT-Angiography for Non-Invasive Monitoring of Neuronal and Vascular Structure in Mouse Retina: Implication for Characterization of Retinal Neurovascular Coupling.EC ophthalmology · 2017Article
- Intraperitoneal injection of (-)-Epigallocatechin-3-gallate protects against light-induced photoreceptor degeneration in the mouse retina.Molecular vision · 2017Article
- Molecular basis for photoreceptor outer segment architecture.Progress in retinal and eye research · 2016Review
- Berberine protects against light-induced photoreceptor degeneration in the mouse retina.Experimental eye research · 2016Article
- Retinal Pre-Conditioning by CD59a Knockout Protects against Light-Induced Photoreceptor Degeneration.PloS one · 2016Article
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
Abstract
Mutations in the RP1 gene can cause retinitis pigmentosa. We identified a spontaneous L66P mutation caused by two adjacent point mutations in the Rp1 gene in a colony of C57BL/6J mice. Mice homozygous for the L66P mutation exhibited slow, progressive photoreceptor degeneration throughout their lifespan. Optical coherence tomography imaging found abnormal photoreceptor reflectivity at 1 month of age. Histology found shortening and disorganization of the photoreceptor inner and outer segments and progressive thinning of the outer nuclear layer. Electroretinogram a- and b-wave amplitudes were decreased with age. Western blot analysis found that the quantity and size of the mutated retinitis pigmentosa 1 (RP1) protein were normal. However, immunohistochemistry found that the mutant Rp1 protein partially mislocalized to the transition zone of the shortened axonemes. This mutation disrupted colocalization with cytoplasmic microtubules in vitro. In conclusion, the L66P mutation in the first doublecortin domain of the Rp1 gene impairs Rp1 protein localization and function, leading to abnormalities in photoreceptor outer segment structure and progressive photoreceptor degeneration. This is the first missense mutation in Rp1 shown to cause retinal degeneration. It provides a unique, slowly progressive photoreceptor degeneration model that mirrors the slow degeneration kinetics in most patients with retinitis pigmentosa.
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