ArticleInvestigative ophthalmology & visual science2003
RP1 is required for the correct stacking of outer segment discs.
Article in Investigative ophthalmology & visual science, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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Who cites it
72 citing papers in PubMed, 130 citations in OpenAlex.
- Unraveling RP1-Associated Retinal Dystrophies: Comprehensive Genetic, Clinical, and Disease Progression Analysis in China.Translational vision science & technology · 2026Article
- Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.Research square · 2026Article
- Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development.Journal of cell science · 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
- BiallelicInternational journal of molecular sciences · 2025Article
- Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.bioRxiv : the preprint server for biology · 2025Article
- Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.Scientific reports · 2024Article
- Excessive tubulin glutamylation leads to progressive cone-rod dystrophy and loss of outer segment integrity.Human molecular genetics · 2024Article
- Microsomal triglyceride transfer protein is necessary to maintain lipid homeostasis and retinal function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Retinitis pigmentosa-1 due to anClinical case reports · 2024Article
- Microsomal triglyceride transfer protein is necessary to maintain lipid homeostasis and retinal function.bioRxiv : the preprint server for biology · 2023Article
- Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme.JCI insight · 2023Article
- The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.Nature communications · 2023Article
- Compound dominant-null heterozygosity in a family withAmerican journal of ophthalmology case reports · 2022Article
- Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.International journal of molecular sciences · 2022Article
- Retinal Ciliopathy in the Patient with Transplanted Kidney: Case Report.International journal of molecular sciences · 2022Review
- Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1.Molecules (Basel, Switzerland) · 2022Article
- A mouse model of cone photoreceptor function lossFrontiers in molecular neuroscience · 2022Article
- Analysis of rod-cone dystrophy genes reveals unique mutational patterns.BMJ open science · 2022Article
- Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due toFrontiers in cell and developmental biology · 2021Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
purposeMutations in RP1 are a common cause of dominant retinitis pigmentosa (RP), but the mechanism by which the identified mutations lead to photoreceptor cell death and blindness has not been determined. To investigate the function of the RP1 protein in photoreceptors and gain insight into the mechanism of disease, gene-targeting techniques were used to produce mice with a mutant Rp1 allele that mimics the truncation alleles found to cause disease.
methodsRT-PCR was used to amplify illegitimate RP1 transcripts from lymphoblasts. Gene targeting was used to create mice with a mutant Rp1-myc allele. Confocal immunofluorescence microscopy was used to identify the location of the mutant Rp1-myc protein in photoreceptors. The structure of the photoreceptors in the resultant Rp1-myc mice was studied by light and electron microscopy. The retinal function of the mutant mice was investigated using analysis of full-field ERGs.
resultsWild-type and mutant RP1 mRNA were both detected in lymphoblasts from patients with RP1 disease. Rp1-myc mice produced a truncated version of the Rp1 protein, containing the N-terminal 662 amino acids, which localized correctly to the axoneme of the photoreceptor outer segments. Mice homozygous for the mutant Rp1-myc allele underwent a rapid-onset retinal degeneration characterized by incorrectly oriented outer segment discs that failed to stack properly into outer segments. In contrast, the photoreceptors of heterozygous mice remained relatively healthy.
conclusionsThe presence of mutant RP1 mRNA in lymphoblasts from patients with RP1 disease implies that the mutant message can escape nonsense-mediated mRNA decay and that a truncated RP1 protein may be produced in the retina. The truncated Rp1-myc protein appears to be nonfunctional, and not to exert a dominant negative effect in the photoreceptors of heterozygous mice. Results from homozygous Rp1-myc mice indicate that RP1 is required for the correct orientation and higher order stacking of outer segment discs.
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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.