A dominant mutation in tyrp1A leads to melanophore death in zebrafish
| Autor: | Jana Krauss, Uwe Irion, Silke Geiger-Rudolph, Christiane Nüsslein-Volhard, Iris Koch |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Tyrosinase
Dermatology Biology General Biochemistry Genetics and Molecular Biology Melanophore Melanin Mutant protein Animals Regeneration TYRP1 Zebrafish Melanosome Genes Dominant Genetics Melanins Membrane Glycoproteins Cell Death Pigmentation Cell Membrane Gene Expression Regulation Developmental Zebrafish Proteins biology.organism_classification Phenylthiourea Cell biology Intramolecular Oxidoreductases Phenotype Oncology Mutation Melanocytes sense organs Oxidoreductases Dopachrome tautomerase |
| Zdroj: | Pigment cellmelanoma research. 27(5) |
| ISSN: | 1755-148X |
| Popis: | Summary 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. |
| Databáze: | OpenAIRE |
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