ArticleThe Journal of biological chemistry2005
RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.
Article in The Journal of biological chemistry, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.
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Who cites it
84 citing papers in PubMed, 170 citations in OpenAlex.
- Cohesin protein Smc3 influences kinocilial structure and function.Biology open · 2025Article
- RPGRORF15 Mutations Disrupt Lysosomal Lipid Metabolism in Retinal Pigment Epithelium Cells and Cause Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.Molecular genetics & genomic medicine · 2025Article
- Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.International journal of molecular sciences · 2024Review
- Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.Molecular genetics & genomic medicine · 2024Article
- Review
- CiliaMiner: an integrated database for ciliopathy genes and ciliopathies.Database : the journal of biological databases and curation · 2023Article
- Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.eLife · 2023Article
- Retinal degeneration inFrontiers in cell and developmental biology · 2023Article
- Exon Skipping Through Chimeric AntisenseNucleic acid therapeutics · 2022Article
- Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel IntronicJournal of personalized medicine · 2022Article
- Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.BMC ophthalmology · 2021Article
- The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.International journal of molecular sciences · 2021Article
- Article
- X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants inInternational journal of molecular sciences · 2021Article
- X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.Ophthalmology. Retina · 2020Article
- Molecular Strategies for RPGR Gene Therapy.Genes · 2019Review
- Development of a Molecularly Stable Gene Therapy Vector for the Treatment ofHuman gene therapy · 2019Article
- Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies.Translational science of rare diseases · 2019Article
- Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.Human genetics · 2019Review
24 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
Abstract
Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for almost 20% of patients with retinitis pigmentosa. Most mutations are detected in alternatively spliced RPGR-ORF15 isoform(s), which are primarily but not exclusively expressed in the retina. We show that, in addition to the axoneme, the RPGR-ORF15 protein is localized to the basal bodies of photoreceptor connecting cilium and to the tip and axoneme of sperm flagella. Mass spectrometric analysis of proteins that were immunoprecipitated from the retinal axoneme-enriched fraction using an anti-ORF15 antibody identified two chromosome-associated proteins, structural maintenance of chromosomes (SMC) 1 and SMC3. Using pulldown assays, we demonstrate that the interaction of RPGR with SMC1 and SMC3 is mediated, at least in part, by the RCC1-like domain of RPGR. This interaction was not observed with phosphorylation-deficient mutants of SMC1. Both SMC1 and SMC3 localized to the cilia of retinal photoreceptors and Madin-Darby canine kidney cells, suggesting a broader physiological relevance of this interaction. Additional immunoprecipitation studies revealed the association of RPGR-ORF15 isoform(s) with the intraflagellar transport polypeptide IFT88 as well as microtubule motor proteins, including KIF3A, p150Glued, and p50-dynamitin. Inhibition of dynein function by overexpressing p50 abrogated the localization of RPGR-ORF15 to basal bodies. Taken together, these results provide novel evidence for the possible involvement of RPGR-ORF15 in microtubule organization and regulation of transport in primary cilia.
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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.