ArticleInvestigative ophthalmology & visual science2015
N-Ethylmaleimide-Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium.
Article in Investigative ophthalmology & visual science, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- DNA damage at an early developmental stage affects neurodevelopment in sterlet (Acipenser ruthenus).BMC biology · 2026Article
- Defects in Exosome Biogenesis Are Associated with Sensorimotor Defects in ZebrafishThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.Investigative ophthalmology & visual science · 2024Article
- Sensory deficit screen identifies nsf mutation that differentially affects SNARE recycling and quality control.Cell reports · 2023Article
- Forward genetic analysis using OCT screening identifiesProceedings of the National Academy of Sciences of the United States of America · 2020Article
- Conversations with Ray Guillery on albinism: linking Siamese cat visual pathway connectivity to mouse retinal development.The European journal of neuroscience · 2019Review
- Regeneration of the zebrafish retinal pigment epithelium after widespread genetic ablation.PLoS genetics · 2019Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
purposeDespite the number of albinism-causing mutations identified in human patients and animal models, there remain a significant number of cases for which no mutation has been identified, suggesting that our understanding of melanogenesis is incomplete. Previously, we identified two oculocutaneous albinism mutations in zebrafish, au13 and au18. Here, we sought to identify the mutated loci and determine how the affected proteins contribute to normal pigmentation of the retinal pigment epithelium (RPE).
methodsComplementation analyses revealed that au13 and au18 belonged to a single complementation group, suggesting that they affected the same locus. Whole-genome sequencing and single nucleotide polymorphism (SNP) analysis was performed to identify putative mutations, which were confirmed by cDNA sequencing and mRNA rescue. Transmission electron microscopy (TEM) and image quantification were used to identify the cellular basis of hypopigmentation.
resultsWhole-genome sequencing and SNP mapping identified a nonsense mutation in the N-ethylmaleimide-sensitive factor b (nsfb) gene in au18 mutants. Complementary DNA sequencing confirmed the presence of the mutation (C893T), which truncates the nsfb protein by roughly two-thirds (Y297X). No coding sequence mutations were identified in au13, but quantitative PCR revealed a significant decrease in nsfb expression, and nsfb mRNA injection rescued the hypopigmentation phenotype, suggesting a regulatory mutation. In situ hybridization revealed that nsfb is broadly expressed during embryonic development, including in the RPE. Transmission electron microscopy analyses indicated that average melanosome density and maturity were significantly decreased in nsfb mutants.
conclusionsau18 and au13 contain mutations in nsfb, which encodes a protein that is required for the maturation of melanosomes in zebrafish RPE.
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