Nucleic Acids Research, 1990, Vol. 18, No. 24 7293-7298
© 1990
Articles |
Conserved cysteine to serine mutation in tyrosinase is responsible for the classical albino mutation in laboratory mice
Howard Hughes Medical Institute, Department of Cell Biology and Institute for Molecular Genetics, Baylor College of Medicine Houston, TX 77030 1Department of Microbiology and Immunology, Indiana University School of Medicine Indianapolis, IN 46223, USA 2Biological Institute, Tohoku University Sendai 980, Japan
*To whom correspondence should be addressed
Received September 25, 1990. Revised November 13, 1990. Accepted November 13, 1990.
Albinism, due to a lack of melanin pigment, is one of the oldest known mutations in mice. Tyrosinase (monophenol oxygenase, EC 1.14.18.1 [EC] ) is the first enzyme in the pathway for melanin synthesis, and the gene encoding this enzyme has been mapped to the mouse albino (c) locus. We have used mouse tyrosinase cDNA clones and genomic sequencing to study the albino mutation in laboratory mice. Within the tyrosinase gene coding sequences, a G to C transversion at nucleotide 308, causing a cysteine to serine mutation at amino acid 103, is sufficient to abrogate pigment production in transgenic mice. This same base pair change is fully conserved in classical albino strains of laboratory mice. These results indicate that a conserved mutation in the tyrosinase coding sequences is responsible for the classical albino mutation in laboratory mice, and also that most albino laboratory mouse strains have been derived from a common ancestor.
Present address: University of Montreal, Faculty of Veterinaiy Medicine, Saint-Hyacinthe, Quebec J25 7C6, Canada
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