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          Institute: MPI für Entwicklungsbiologie     Collection: Abteilung 3 (bis 2014)- Genetics (C. Nüsslein-Volhard)     Display Documents

ID: 705444.0, MPI für Entwicklungsbiologie / Abteilung 3 (bis 2014)- Genetics (C. Nüsslein-Volhard)
A dominant mutation in tyrp1A leads to melanophore death in zebrafish
Authors:Krauss, J.; Geiger-Rudolph, S.; Koch, I.; Nusslein-Volhard, C.; Irion, U.
Date of Publication (YYYY-MM-DD):2014-09
Title of Journal:Pigment Cell & Melanoma Research
Journal Abbrev.:Pigment Cell Melanoma Res
Issue / Number:5
Start Page:827
End Page:830
Sequence Number of Article:24891189
Review Status:Internal review
Audience:Experts Only
Abstract / Description:Melanin biosynthesis in vertebrates depends on the function of three enzymes of the tyrosinase family, tyrosinase (Tyr), tyrosinase-related protein 1 (Tyrp1), and dopachrome tautomerase (Dct or Tyrp2). Tyrp1 might play an additional role in the survival and proliferation of melanocytes. Here, we describe a mutation in tyrp1A, one of the two tyrp1 paralogs in zebrafish, which causes melanophore death leading to a semi-dominant phenotype. The mutation, an Arg->Cys change in the amino-terminal part of the protein, is similar to mutations in humans and mice where they lead to blond hair (in melanesians) or dark hair with white bases, respectively. We demonstrate that the phenotype in zebrafish depends on the presence of the mutant protein and on melanin synthesis. Ultrastructural analysis shows that the melanosome morphology and pigment content are altered in the mutants. These structural changes might be the underlying cause for the observed cell death, which, surprisingly, does not result in patterning defects.
External Publication Status:published
Document Type:Article
Communicated by:MPI für Entwickungsbiologie
Affiliations:MPI für Entwicklungsbiologie/Abteilung 3 - Genetik (Christiane Nüsslein-Volhard)
Identifiers:ISSN:1755-148X (Electronic) 1755-1471 (Linking) %R 10.1... [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/pubmed/24891189 [ID No:2]
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