ArticlePloS one2012
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan.Japanese journal of ophthalmology · 2024Guideline
- Exome sequencing identifies a homozygous splice site variant inAnnals of medicine · 2025Article
- RP1 Dual-AAV Gene Therapy Preserves Retinal Structure and Ameliorates Photoreceptor Degeneration in a Murine Model of Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde · 2025Article
- Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies.International journal of molecular sciences · 2022Review
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:Genes · 2022Article
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- Relevance of Peptide Homeostasis in Metabolic Retinal Degenerative Disorders: Curative Potential in Genetically Modified Mice.Frontiers in pharmacology · 2021Review
- Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due toFrontiers in cell and developmental biology · 2021Article
- Pax6 modulates intra-retinal axon guidance and fasciculation of retinal ganglion cells during retinogenesis.Scientific reports · 2020Article
- BiallelicMolecular vision · 2020Article
- Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.International journal of molecular sciences · 2019Review
- CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.Retina (Philadelphia, Pa.) · 2017Review
- Molecular basis for photoreceptor outer segment architecture.Progress in retinal and eye research · 2016Review
- Gene Therapy and Stem Cell Transplantation in Retinal Disease: The New Frontier.Ophthalmology · 2016Review
- Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.Experimental eye research · 2016Review
- A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds.Genetics, selection, evolution : GSE · 2016Article
- A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.The American journal of pathology · 2014Article
- Stem cells for investigation and treatment of inherited retinal disease.Human molecular genetics · 2014Review
- Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.PloS one · 2013Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in the retinitis pigmentosa 1 (RP1) gene are a common cause of autosomal dominant retinitis pigmentosa (adRP), and have also been found to cause autosomal recessive RP (arRP) in a few families. The 33 dominant mutations and 6 recessive RP1 mutations identified to date are all nonsense or frameshift mutations, and almost exclusively (38 out of 39) are located in the 4(th) and final exon of RP1. To better understand the underlying disease mechanisms of and help develop therapeutic strategies for RP1 disease, we performed a series of human genetic and animal studies using gene targeted and transgenic mice. Here we report that a frameshift mutation in the 3(rd) exon of RP1 (c.686delC; p.P229QfsX35) found in a patient with recessive RP1 disease causes RP in the homozygous state, whereas the heterozygous carriers are unaffected, confirming that haploinsufficiency is not the causative mechanism for RP1 disease. We then generated Rp1 knock-in mice with a nonsense Q662X mutation in exon 4, as well as Rp1 transgenic mice carrying a wild-type BAC Rp1 transgene. The Rp1-Q662X allele produces a truncated Rp1 protein, and homozygous Rp1-Q662X mice experience a progressive photoreceptor degeneration characterized disorganization of photoreceptor outer segments. This phenotype could be prevented by expression of a normal amount of Rp1 protein from the BAC transgene without removal of the mutant Rp1-Q662X protein. Over-expression of Rp1 protein in additional BAC Rp1 transgenic lines resulted in retinal degeneration. These findings suggest that the truncated Rp1-Q662X protein does not exert a toxic gain-of-function effect. These results also imply that in principle gene augmentation therapy could be beneficial for both recessive and dominant RP1 patients, but the levels of RP1 protein delivered for therapy will have to be carefully controlled.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.