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N-Ethylmaleimide–Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium
Author(s) -
Nicholas J. Hanovice,
Christina M. Daly,
Jeffrey M. Gross
Publication year - 2015
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.15-17704
Subject(s) - biology , zebrafish , microbiology and biotechnology , genetics , retinal pigment epithelium , mutant , complementation , gene , mutation , nonsense mutation , melanosome , single nucleotide polymorphism , retinal , missense mutation , genotype , melanin , biochemistry
Despite 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).

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