A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity

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 (Gin) allele was not detected in Oriental populat...

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Bibliographic Details
Published in:Gene expression 1991-05, Vol.1 (2), p.103-110
Main Authors: Tripathi, Ram K., Giebel, Lutz B., Strunk, Kathleen M., Spritz, Richard A.
Format: Article
Language:English
Subjects:
Base Sequence
Codon
Ethnicity - genetics
HeLa Cells
Humans
Kinetics
Mini-Review
Molecular Sequence Data
Monophenol Monooxygenase - genetics
Monophenol Monooxygenase - metabolism
Polymorphism, Genetic
Temperature
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Summary: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 (Gin) 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°C as compared to 31°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.
ISSN:1052-2166
1555-3884