title: Rescue of the albino phenotype by introduction of a functional tyrosinase gene into mice.
abstract: The c-locus of the mouse is thought to encode tyrosinase, the key enzyme for melanin synthesis in melanocytes of the skin and the eye. Recently, a mouse cDNA was isolated and shown to confer tyrosine activity on a cell line which expressed no specialized functions for melanin synthesis. To verify that the isolated tyrosinase gene is encoded at the genetically well characterized c-locus, a minigene was assembled from tyrosinase cDNA and tyrosinase genomic DNA and used for generation of transgenic mice. Following microinjection of this construct into fertilized eggs of an albino mouse strain, transgenic mice were obtained which showed pigmentation in skin and eyes. By in situ hybridization, we show expression of the transgene in melanocytes of the hairbulb and in the pigmented cell layers of the eye. We conclude that we have rescued the albino mutation (c/c) by introduction and expression of a functional tyrosinase gene.
authors.affiliation: Institute of Cell and Tumor Biology, German Cancer Research Center, Heidelberg.
authors.forename: F
authors.initials: F
authors.lastname: Beermann
authors.forename: S
authors.initials: S
authors.lastname: Ruppert
authors.forename: E
authors.initials: E
authors.lastname: Hummler
authors.forename: F X
authors.initials: FX
authors.lastname: Bosch
authors.forename: G
authors.initials: G
authors.lastname: Müller
authors.forename: U
authors.initials: U
authors.lastname: Rüther
authors.forename: G
authors.initials: G
authors.lastname: Schütz
mesh_terms: D000417:Albinism / Q000201:enzymology / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D004156:Catechol Oxidase / Q000235:genetics*; D005796:Genes; D006200:Hair Color / Q000235:genetics; D051379:Mice; D008815:Mice, Inbred Strains; D008822:Mice, Transgenic; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D015345:Oligonucleotide Probes; D010957:Plasmids; D015183:Restriction Mapping
chemical_list: D015345:Oligonucleotide Probes; D004156:Catechol Oxidase; D014442:Monophenol Monooxygenase