ArticleJournal of cell science2021
Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases.
Article in Journal of cell science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies.European journal of clinical investigation · 2026Article
- Impact of maternal compensation on developmental phenotypes in a zebrafish model of severe congenital muscular dystrophy.PLoS genetics · 2026Article
- Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.Biomolecules · 2025Review
- PSKH1 kinase activity is differentially modulated via allosteric binding of CaProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Follistatin like-1 (Adipocyte · 2024Article
- Review
- Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors.Disease models & mechanisms · 2024Article
- The recent advances and future perspectives of genetic compensation studies in the zebrafish model.Genes & diseases · 2023Review
- Model organisms for functional validation in genetic renal disease.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants.Disease models & mechanisms · 2022Article
- The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.Nature communications · 2022Article
- Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes.PLoS genetics · 2022Article
- The ARF GAPs ELMOD1 and ELMOD3 act at the Golgi and cilia to regulate ciliogenesis and ciliary protein traffic.Molecular biology of the cell · 2022Article
- Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome.Frontiers in genetics · 2022Review
- Zebrafish models of inherited retinal dystrophies.Journal of translational genetics and genomics · 2022Article
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 5 countries.
Funding
Abstract
Mutations in CEP290 (also known as NPHP6), a large multidomain coiled coil protein, are associated with multiple cilia-associated syndromes. Over 130 CEP290 mutations have been linked to a wide spectrum of human ciliopathies, raising the question of how mutations in a single gene cause different disease syndromes. In zebrafish, the expressivity of cep290 deficiencies were linked to the type of genetic ablation: acute cep290 morpholino knockdown caused severe cilia-related phenotypes, whereas deficiencies in a CRISPR/Cas9 genetic mutant were restricted to photoreceptor defects. Here, we show that milder phenotypes in genetic mutants were associated with the upregulation of genes encoding the cilia-associated small GTPases arl3, arl13b and unc119b. Upregulation of UNC119b was also observed in urine-derived renal epithelial cells from human Joubert syndrome CEP290 patients. Ectopic expression of arl3, arl13b and unc119b in cep290 morphant zebrafish embryos rescued Kupffer's vesicle cilia and partially rescued photoreceptor outer segment defects. The results suggest that genetic compensation by upregulation of genes involved in a common subcellular process, lipidated protein trafficking to cilia, may be a conserved mechanism contributing to genotype-phenotype variations observed in CEP290 deficiencies. This article has an associated First Person interview with the first author of the paper.
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