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A dominant mutation in tyrp1 A leads to melanophore death in zebrafish
Author(s) -
Krauss Jana,
GeigerRudolph Silke,
Koch Iris,
NüssleinVolhard Christiane,
Irion Uwe
Publication year - 2014
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/pcmr.12272
Subject(s) - zebrafish , melanosome , tyrosinase , melanophore , mutant , biology , mutation , microbiology and biotechnology , phenotype , melanin , programmed cell death , melanocyte , genetics , gene , chromatophore , enzyme , biochemistry , apoptosis , melanoma
Summary Melanin biosynthesis in vertebrates depends on the function of three enzymes of the tyrosinase family, tyrosinase ( T yr), tyrosinase‐related protein 1 ( T yrp1), and dopachrome tautomerase ( D ct or T yrp2). T yrp1 might play an additional role in the survival and proliferation of melanocytes. Here, we describe a mutation in tyrp1 A , one of the two tyrp1 paralogs in zebrafish, which causes melanophore death leading to a semi‐dominant phenotype. The mutation, an A rg‐> C ys 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.