ArticleInvestigative ophthalmology & visual science2017
The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival.
Article in Investigative ophthalmology & visual science, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 39 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
- Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development.Journal of cell science · 2025Article
- Genomic Insights into the Population Genetics and Adaptive Evolution of Yellow Seabream (Animals : an open access journal from MDPI · 2025Article
- Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.bioRxiv : the preprint server for biology · 2025Article
- Review
- The role of cilia during organogenesis in zebrafish.Open biology · 2023Review
- Embryonic hyperglycemia perturbs the development of specific retinal cell types, including photoreceptors.Journal of cell science · 2022Article
- The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.Annual review of genomics and human genetics · 2022Review
- Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome.Frontiers in genetics · 2022Review
- A highly conserved zebrafish IMPDH retinal isoform produces the majority of guanine and forms dynamic protein filaments in photoreceptor cells.The Journal of biological chemistry · 2022Article
- Zebrafish models of inherited retinal dystrophies.Journal of translational genetics and genomics · 2022Article
- Zebrafish Models of Autosomal Recessive Ataxias.Cells · 2021Review
- Zebrafish Models of Photoreceptor Dysfunction and Degeneration.Biomolecules · 2021Review
- Zebrafish Crb1, Localizing Uniquely to the Cell Membranes around Cone Photoreceptor Axonemes, Alleviates Light Damage to Photoreceptors and Modulates Cones' Light Responsiveness.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- Cone Photoreceptor Degeneration and Neuroinflammation in the Zebrafish Bardet-Biedl Syndrome 2 (Frontiers in cell and developmental biology · 2020Article
- Genomic non-redundancy of the mir-183/96/182 cluster and its requirement for hair cell maintenance.Scientific reports · 2019Article
- Disrupted Plasma Membrane Protein Homeostasis in aThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Insights into photoreceptor ciliogenesis revealed by animal models.Progress in retinal and eye research · 2019Review
- Article
- Mutant Ahi1 Affects Retinal Axon Projection in ZebrafishFrontiers in cellular neuroscience · 2019Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Purpose: Joubert syndrome (JBTS) is an autosomal recessive ciliopathy with considerable phenotypic variability. In addition to central nervous system abnormalities, a subset of JBTS patients exhibit retinal dystrophy and/or kidney disease. Mutations in the AHI1 gene are causative for approximately 10% of all JBTS cases. The purpose of this study was to generate ahi1 mutant alleles in zebrafish and to characterize the retinal phenotypes. Methods: Zebrafish ahi1 mutants were generated using transcription activator-like effector nucleases (TALENs). Expression analysis was performed by whole-mount in situ hybridization. Anatomic and molecular characterization of photoreceptors was investigated by histology, electron microscopy, and immunohistochemistry. The optokinetic response (OKR) behavior assay was used to assess visual function. Kidney cilia were evaluated by whole-mount immunostaining. Results: The ahi1lri46 mutation in zebrafish resulted in shorter cone outer segments but did not affect visual behavior at 5 days after fertilization (dpf). No defects in rod morphology or rhodopsin localization were observed at 5 dpf. By 5 months of age, cone degeneration and rhodopsin mislocalization in rod photoreceptors was observed. The connecting cilium formed normally and Cc2d2a and Cep290 localized properly. Distal pronephric duct cilia were absent in mutant fish; however, only 9% of ahi1 mutants had kidney cysts by 5 dpf, suggesting that the pronephros remained largely functional. Conclusions: The results indicate that Ahi1 is required for photoreceptor disc morphogenesis and outer segment maintenance in zebrafish.
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Registered trials
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