title: A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity.
abstract: We have identified a common nonpathological polymorphism of the human tyrosinase gene. In Caucasians codon 402 can be either CGA (arginine) [p = .85] or CAA (glutamine) [p = .15]. This polymorphism also occurs in American Blacks, but the codon 402CAA (Gln) allele was not detected in Oriental populations. The substitution of glutamine for arginine at codon 402 results in moderate thermoinstability of the corresponding tyrosinase polypeptide. Tyrosinase enzymatic activity expressed in HeLa cells transfected with a codon 402Gln tyrosinase cDNA is reduced by approximately 75 percent when cells are cultured at 37 degrees C as compared to 31 degrees C, whereas enzymatic activity of codon 402Arg tyrosinase is not temperature-sensitive. However, the genotype at codon 402 of tryosinase is not correlated with the apparent pigmentation phenotype in normal Caucasians.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, Madison 53706.
authors.forename: R K
authors.initials: RK
authors.lastname: Tripathi
authors.forename: L B
authors.initials: LB
authors.lastname: Giebel
authors.forename: K M
authors.initials: KM
authors.lastname: Strunk
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D001483:Base Sequence; D003062:Codon; D005006:Ethnicity / Q000235:genetics; D006367:HeLa Cells; D006801:Humans; D007700:Kinetics; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics* / Q000378:metabolism*; D011110:Polymorphism, Genetic; D013696:Temperature
chemical_list: D003062:Codon; D014442:Monophenol Monooxygenase