ArticleInvestigative ophthalmology & visual science2014
Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
- CLUAP1 variants cause non-syndromic retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Associations between RetNet gene polymorphisms and the efficacy of orthokeratology for myopia control: a retrospective clinical study.Eye and vision (London, England) · 2025Article
- Contribution of intraflagellar transport to compartmentalization and maintenance of the photoreceptor cell.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Integrative QTL mapping and selection signatures in Groningen White Headed cattle inferred from whole-genome sequences.PloS one · 2022Article
- Ischemic Stroke and Sleep: The Linking Genetic Factors.Cardiology and therapy · 2021Review
- Zebrafish Model in Ophthalmology to Study Disease Mechanism and Drug Discovery.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Zebrafish Models of Photoreceptor Dysfunction and Degeneration.Biomolecules · 2021Review
- On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Review
- Review: Intraflagellar transport proteins in the retina.Molecular vision · 2020Review
- Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour.Nature communications · 2019Article
- 661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies.Frontiers in genetics · 2019Article
- CRISPR/Cas9-mediated Genomic Editing of Cluap1/IFT38 Reveals a New Role in Actin Arrangement.Molecular & cellular proteomics : MCP · 2018Article
- Compound heterozygous alterations in intraflagellar transport proteinCold Spring Harbor molecular case studies · 2017Article
- Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish.Biology open · 2016Article
- Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Overall Architecture of the Intraflagellar Transport (IFT)-B Complex Containing Cluap1/IFT38 as an Essential Component of the IFT-B Peripheral Subcomplex.The Journal of biological chemistry · 2016Article
- Genetic Dissection of Dual Roles for the Transcription Factor six7 in Photoreceptor Development and Patterning in Zebrafish.PLoS genetics · 2016Article
- Xenbase, the Xenopus model organism database; new virtualized system, data types and genomes.Nucleic acids research · 2015Article
- Review
- Ordered deployment of distinct ciliary beating machines in growing axonemes of vertebrate multiciliated cells.Differentiation; research in biological diversityArticle
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo identify the mutation and cell biological underpinnings of photoreceptor defects in zebrafish au5 mutants.
methodsWhole genome sequencing and SNP mapping were used to determine the genomic interval that harbors the au5 mutation. A candidate mutation was cloned and sequenced, and mRNA rescue used to validate that the affected gene was correctly identified. In situ hybridization, immunohistochemistry, and confocal imaging were used to determine the effects on photoreceptor development and maintenance in mutant retinae, and to determine if ciliogenesis or cilia-dependent development was affected in mutant embryos. Expression of tagged proteins and high-speed in vivo confocal imaging was used to quantify intraflagellar transport (IFT) and IFT particle localization within multiciliated cells of the Xenopus epidermis.
resultsThe au5 mutants possess a nonsense mutation in cluap1, which encodes a component of the IFT machinery. Photoreceptor defects result from degeneration of photoreceptors, and defects in ciliogenesis precede degeneration. Cilia in the olfactory pit are absent, and left-right heart positioning is aberrant, consistent with a role for cluap1 during ciliogenesis and cilia-dependent development. High-speed in vivo imaging demonstrates that cluap1 undergoes IFT and that it moves along the cilium bidirectionally, with similar localization and kinetics as IFT20, an IFT-B complex component.
conclusionsWe identified a novel mutation in cluap1 and determined that photoreceptor maintenance is dependent on cluap1. Imaging data support a model in which cluap1 is a component of the IFT-B complex, and cilia formation requires cluap1 function. These data may provide new insights into the mechanism of photoreceptor degeneration in retinal ciliopathies.
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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.