Molecular characterization of the mouse tyrosinase gene: pigment cell-specific expression in transgenic mice

Pigment Cell Res. 1992 Nov;5(5 Pt 2):295-9. doi: 10.1111/j.1600-0749.1992.tb00552.x.


Tyrosinase is the key enzyme in melanin synthesis, and is expressed in the pigment epithelium of the retina, a cell layer derived from the optic cup; and in neural crest-derived melanocytes of skin, hair follicle, choroid, and iris. The tyrosinase gene has been cloned and shown to map to the well-characterized c-locus (albino locus) of the mouse. Subsequent studies demonstrated that a functional tyrosinase minigene was able to rescue the albino phenotype in transgenic mice. The transgene was expressed in a cell type-specific manner in skin and eye. During development of the mouse, the tyrosinase gene is expressed in the pigment epithelium of the retina as early as day 10.5 of gestation. In the hair follicle, tyrosinase gene expression is detected from day 16.5 onwards. This cell-type-specific expression is largely reproduced in transgenic mice. Our results suggest that sequences in the immediate vicinity of the mouse tyrosinase gene are sufficient to provide cell type-specificity and developmental regulation in melanocytes and the pigment epithelium.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Albinism / genetics
  • Animals
  • Choroid / cytology
  • Choroid / enzymology
  • Exons
  • Gene Expression
  • Gene Expression Regulation, Enzymologic / genetics
  • Hair / cytology
  • Hair / enzymology
  • Iris / cytology
  • Iris / enzymology
  • Melanocytes / enzymology
  • Mice
  • Mice, Transgenic / genetics*
  • Monophenol Monooxygenase / genetics*
  • Mutation / genetics
  • Phenotype
  • Pigment Epithelium of Eye / cytology*
  • Pigment Epithelium of Eye / enzymology*
  • Promoter Regions, Genetic
  • Skin / cytology
  • Skin / enzymology


  • Monophenol Monooxygenase