ArticleHuman molecular genetics2014
Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 51 citations in OpenAlex.
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- Syntaxin 3B Mediates Light-Dependent Interactions with STXBP1 and Arrestin 4: Distinct Roles in Rods and Cones.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Prime editing for the investigation of aberrant splicing defect associated with a pathogenicMolecular therapy. Nucleic acids · 2025Article
- Review
- Article
- ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.bioRxiv : the preprint server for biology · 2023Article
- Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.Cellular and molecular life sciences : CMLS · 2023Article
- The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.Nature communications · 2023Article
- Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.Investigative ophthalmology & visual science · 2022Article
- Prph2 disease mutations lead to structural and functional defects in the RPE.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- The Neuroprotective Role of Retbindin, a Metabolic Regulator in the Neural Retina.Frontiers in pharmacology · 2022Review
- PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Human mutation · 2021Article
- A complement factor H homolog, heparan sulfation, and syndecan maintain inversin compartment boundaries inProceedings of the National Academy of Sciences of the United States of America · 2021Article
- Retbindin: A riboflavin Binding Protein, Is Critical for Photoreceptor Homeostasis and Survival in Models of Retinal Degeneration.International journal of molecular sciences · 2020Article
- ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.Human molecular genetics · 2020Article
- Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.Human mutation · 2020Article
- Syntaxin 3 is essential for photoreceptor outer segment protein trafficking and survival.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Elimination of a Retinal Riboflavin Binding Protein Exacerbates Degeneration in a Model of Cone-Rod Dystrophy.Investigative ophthalmology & visual science · 2020Article
- Review
- Novel molecular mechanisms for Prph2-associated pattern dystrophy.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in the photoreceptor tetraspanin gene peripherin-2/retinal degeneration slow (PRPH2/RDS) cause both rod- and cone-dominant diseases. While rod-dominant diseases, such as autosomal dominant retinitis pigmentosa, are thought to arise due to haploinsufficiency caused by loss-of-function mutations, the mechanisms underlying PRPH2-associated cone-dominant diseases are unclear. Here we took advantage of a transgenic mouse line expressing an RDS mutant (R172W) known to cause macular degeneration (MD) in humans. To facilitate the study of cones in the heavily rod-dominant mouse retina, R172W mice were bred onto an Nrl(-/-) background (in which developing rods adopt a cone-like fate). In this model the R172W protein and the key RDS-binding partner, rod outer segment (OS) membrane protein 1 (ROM-1), were properly expressed and trafficked to cone OSs. However, the expression of R172W led to dominant defects in cone structure and function with equal effects on S- and M-cones. Furthermore, the expression of R172W in cones induced subtle alterations in RDS/ROM-1 complex assembly, specifically resulting in the formation of abnormal, large molecular weight ROM-1 complexes. Fundus imaging demonstrated that R172W mice developed severe clinical signs of disease nearly identical to those seen in human MD patients, including retinal degeneration, retinal pigment epithlium (RPE) defects and loss of the choriocapillaris. Collectively, these data identify a primary disease-causing molecular defect in cone cells and suggest that RDS-associated disease in patients may be a result of this defect coupled with secondary sequellae involving RPE and choriocapillaris cell loss.
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