PUBLICATION

A dominant mutation in tyrp1A leads to melanophore death in zebrafish

Authors
Krauss, J., Geiger-Rudolph, S., Koch, I., Nüsslein-Volhard, C., Irion, U.
ID
ZDB-PUB-140604-4
Date
2014
Source
Pigment cell & melanoma research   27(5): 827-30 (Journal)
Registered Authors
Geiger-Rudolph, Silke, Irion, Uwe, Krauss, Jana, Nüsslein-Volhard, Christiane
Keywords
none
MeSH Terms
  • Animals
  • Cell Death
  • Cell Membrane/metabolism
  • Gene Expression Regulation, Developmental
  • Genes, Dominant*
  • Intramolecular Oxidoreductases/genetics*
  • Intramolecular Oxidoreductases/metabolism
  • Melanins/metabolism
  • Melanocytes/cytology*
  • Mutation*
  • Phenotype
  • Phenylthiourea/chemistry
  • Pigmentation
  • Regeneration
  • Zebrafish
  • Zebrafish Proteins/genetics*
  • Zebrafish Proteins/metabolism
PubMed
24891189 Full text @ Pigment Cell Melanoma Res.
Abstract
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. This article is protected by copyright. All rights reserved.
Genes / Markers
Figures
Expression
Phenotype
Mutation and Transgenics
Human Disease / Model Data
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping
Errata and Notes