ArticleHuman molecular genetics2014
Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed.
- Exploring the potential for gene therapy in Cav1.4-related retinal channelopathies.Channels (Austin, Tex.) · 2025Review
- Cadherin-16 regulates acoustic sensory gating in zebrafish through endocrine signaling.PLoS biology · 2025Article
- Gene therapy shines light on congenital stationary night blindness for future cures.Journal of translational medicine · 2025Review
- Cadherin 16 promotes sensory gating via the endocrine corpuscles of Stannius.bioRxiv : the preprint server for biology · 2024Article
- An Overview towards Zebrafish Larvae as a Model for Ocular Diseases.International journal of molecular sciences · 2023Review
- Calcium Channels in Retinal Function and Disease.Annual review of vision science · 2022Review
- Embryonic Hyperglycemia Delays the Development of Retinal Synapses in a Zebrafish Model.International journal of molecular sciences · 2022Article
- Dynamic functional and structural remodeling during retinal regeneration in zebrafish.Frontiers in molecular neuroscience · 2022Article
- Usher syndrome type 1-associated gene, pcdh15b, is required for photoreceptor structural integrity in zebrafish.Disease models & mechanisms · 2021Article
- Biochemistry and physiology of zebrafish photoreceptors.Pflugers Archiv : European journal of physiology · 2021Review
- The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors.Pflugers Archiv : European journal of physiology · 2021Review
- Function of cone and cone-related pathways in CaScientific reports · 2021Article
- Zebrafish Models of Photoreceptor Dysfunction and Degeneration.Biomolecules · 2021Review
- Molecular Assembly and Structural Plasticity of Sensory Ribbon Synapses-A Presynaptic Perspective.International journal of molecular sciences · 2020Review
- Sensing through Non-Sensing Ocular Ion Channels.International journal of molecular sciences · 2020Review
- Photoreceptor degeneration in a new Cacna1f mutant mouse model.Experimental eye research · 2019Article
- Pregnancy-Associated Plasma Protein-aa Regulates Photoreceptor Synaptic Development to Mediate Visually Guided Behavior.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Relevance of tissue specific subunit expression in channelopathies.Neuropharmacology · 2018Review
- Channeling Vision: CaBioMed research international · 2018Review
- Zebrafish Lacking Circadian GeneFrontiers in behavioral neuroscience · 2018Article
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8 authors.
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Abstract
Mutations in the human CACNA1F gene cause incomplete congenital stationary night blindness type 2 (CSNB2), a non-progressive, clinically heterogeneous retinal disorder. However, the molecular mechanisms underlying CSNB2 have not been fully explored. Here, we describe the positional cloning of a blind zebrafish mutant, wait until dark (wud), which encodes a zebrafish homolog of human CACNA1F. We identified two zebrafish cacna1f paralogs and showed that the cacna1fa transcript (the gene mutated in wud) is expressed exclusively in the photoreceptor layer. We demonstrated that Cacna1fa localizes at the photoreceptor synapse and is absent from wud mutants. Electroretinograms revealed abnormal cone photoreceptor responses from wud mutants, indicating a defect in synaptic transmission. Although there are no obvious morphological differences, we found that wud mutants lacked synaptic ribbons and that wud is essential for the development of synaptic ribbons. We found that Ribeye, the most prominent synaptic ribbon protein, was less abundant and mislocalized in adult wud mutants. In addition to cloning wud, we identified synaptojanin 1 (synj1) as the defective gene in slacker (slak), a blind mutant with floating synaptic ribbons. We determined that Cacna1fa was expressed in slak photoreceptors and that Synj1 was initially expressed wud photoreceptors, but was absent by 5 days postfertilization. Collectively, our data demonstrate that Cacna1fa is essential for cone photoreceptor function and synaptic ribbon formation and reveal a previously unknown yet critical role of L-type voltage-dependent calcium channels in the expression and/or distribution of synaptic ribbon proteins, providing a new model to study the clinical variability in human CSNB2 patients.
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