ArticleDisease models & mechanisms2022
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants.
Article in Disease models & mechanisms, 2022. 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, 30 citations in OpenAlex.
- Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.Clinical genetics · 2026Review
- Loss of U11/U12 spliceosome geneLife science alliance · 2026Article
- Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis.The Journal of clinical investigation · 2026Article
- Cohesin protein Smc3 influences kinocilial structure and function.Biology open · 2025Article
- Article
- CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies.Journal of cell communication and signaling · 2025Review
- Engineering precision zebrafish alleles of human disease.bioRxiv : the preprint server for biology · 2025Article
- Optical genome mapping identifies rare structural variants in neural tube defects.Genome research · 2025Article
- A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification.Nature communications · 2025Article
- Ciliary and Non-Ciliary Roles of IFT88 in Development and Diseases.International journal of molecular sciences · 2025Review
- Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system.Biology open · 2024Article
- New functions of B9D2 in tight junctions and epithelial polarity.Scientific reports · 2024Article
- Article
- Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors.Disease models & mechanisms · 2024Article
- Case report: Successful PGT-M based on the identification of a spliceogenic variant in theFrontiers in genetics · 2024Article
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
Abstract
Meckel syndrome, nephronophthisis, Joubert syndrome and Bardet-Biedl syndrome are caused by mutations in proteins that localize to the ciliary transition zone (TZ). The phenotypically distinct syndromes suggest that these TZ proteins have differing functions. However, mutations in a single TZ gene can result in multiple syndromes, suggesting that the phenotype is influenced by modifier genes. We performed a comprehensive analysis of ten zebrafish TZ mutants, including mks1, tmem216, tmem67, rpgrip1l, cc2d2a, b9d2, cep290, tctn1, nphp1 and nphp4, as well as mutants in ift88 and ift172. Our data indicate that variations in phenotypes exist between different TZ mutants, supporting different tissue-specific functions of these TZ genes. Further, we observed phenotypic variations within progeny of a single TZ mutant, reminiscent of multiple disease syndromes being associated with mutations in one gene. In some mutants, the dynamics of the phenotype became complex with transitory phenotypes that are corrected over time. We also demonstrated that multiple-guide-derived CRISPR/Cas9 F0 'crispant' embryos recapitulate zygotic null phenotypes, and rapidly identified ciliary phenotypes in 11 cilia-associated gene candidates (ankfn1, ccdc65, cfap57, fhad1, nme7, pacrg, saxo2, c1orf194, ttc26, zmynd12 and cfap52).
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