ArticleMolecular vision2003
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.
Article in Molecular vision, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 51 citations in OpenAlex.
- Cone dystrophy in patient with homozygous RP1L1 mutation.BioMed research international · 2015Trial
- Evolution of vitelliform maculopathy in a pediatric patient with a homozygousAmerican journal of ophthalmology case reports · 2025Article
- Review of Four Refined Clinical Entities in Hereditary Retinal Disorders from Japan.International journal of molecular sciences · 2025Review
- Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.Investigative ophthalmology & visual science · 2025Article
- A graph neural network approach for accurate prediction of pathogenicity in multi-type variants.Briefings in bioinformatics · 2025Article
- Axonemal microtubule dynamics in the assembly and disassembly of cilia.Biochemical Society transactions · 2025Review
- Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy.BMC ophthalmology · 2024Article
- PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner.Human genetics · 2024Article
- New recessive compound heterozygous variants ofInternational journal of ophthalmology · 2024Article
- Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes.BMJ open ophthalmology · 2022Article
- Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features inCells · 2020Article
- Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.Investigative ophthalmology & visual science · 2020Article
- Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families.International journal of ophthalmology · 2019Article
- Photoreceptor Cilia and Retinal Ciliopathies.Cold Spring Harbor perspectives in biology · 2017Review
- Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.Frontiers in genetics · 2017Article
- Divergence of dim-light vision among bats (order: Chiroptera) as estimated by molecular and electrophysiological methods.Scientific reports · 2015Article
- Occult macular dystrophy.Japanese journal of ophthalmology · 2015Review
- Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene.Documenta ophthalmologica. Advances in ophthalmology · 2013Article
- Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Orphanet journal of rare diseases · 2012Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
Abstract
purposeTo determine the full-length sequence of a gene with similarity to RP1 and to screen for mutations in this newly characterized gene, named retinitis pigmentosa 1-like 1(RP1L1). Since mutations in the RP1 gene cause autosomal dominant retinitis pigmentosa, it is possible that mutations in RP1's most sequence similar relative, RP1L1, may also be a cause of inherited retinal degeneration.
methodsA combination of cDNA clone sequencing, RACE, and database analysis were used to determine the RP1L1 mRNA sequence and its genomic organization. PCR analysis, semi-quantitative RT PCR, and in situ hybridization were used to determine the expression pattern of RP1L1. Single-strand conformational analysis and automated sequencing were used to screen probands from 60 adRP families for potential disease-causing mutations in RP1L1.
resultsThe human RP1L1 gene is encoded in 4 exons, which span 50 kb on chromosome 8p. The length of the RP1L1 mRNA is large, over 7 kb, but its exact length is variable between individuals due to the presence of several length polymorphisms, including a 48 bp repeat. RP1L1 encodes a protein with a minimal length of 2,400 amino acids and a predicted weight of 252 kDa. Expression of RP1L1 is limited to the retina and appears to be specific to photoreceptors. Mutational analysis of 60 autosomal dominant retinitis pigmentosa probands revealed the presence of 38 sequence substitutions in RP1L1. Over half of these substitutions result in alteration of the RP1L1 protein, but none of these substitutions appear to be pathogenic.
conclusionsThe RP1L1 gene encodes a large, highly polymorphic, retinal-specific protein. No RP1L1 disease-causing mutations were identified in any of the samples tested, making it unlikely that mutations in RP1L1 are a frequent cause of autosomal dominant retinitis pigmentosa. Additional experiments will be needed to determine if mutations in RP1L1 cause other forms of inherited retinal degeneration.
Indexed as
Identifiers
12724644PMC2580755W2156555211What OpenQuestion holds
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.