Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

R A King; D Townsend; W Oetting; C G Summers; D P Olds; J G White; R A Spritz

doi:10.1172/JCI115064

Department of Medicine, University of Minnesota, Minneapolis 55455.

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Department of Medicine, University of Minnesota, Minneapolis 55455.

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Department of Medicine, University of Minnesota, Minneapolis 55455.

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Department of Medicine, University of Minnesota, Minneapolis 55455.

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Department of Medicine, University of Minnesota, Minneapolis 55455.

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Department of Medicine, University of Minnesota, Minneapolis 55455.

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Department of Medicine, University of Minnesota, Minneapolis 55455.

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Published in Volume 87, Issue 3 on March 1, 1991
J Clin Invest. 1991;87(3):1046–1053. https://doi.org/10.1172/JCI115064.
© 1991 The American Society for Clinical Investigation

Published March 1, 1991 - Version history

Several types of autosomal recessive oculocutaneous albinism (OCA) are associated with abnormal tyrosinase function and a generalized reduction in or absence of cutaneous and eye melanin. Each is thought to result from a different mutant allele at the tyrosinase locus, with the mutation producing an enzyme with little or no activity in all involved tissues. In this paper, we report a new type of OCA that results from a tyrosinase allele producing a temperature-sensitive enzyme. The proband had white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities) of her body. Melanocyte and melanosome architecture were normal. Quantitative hairbulb tyrosinase (dopa oxidase) assay demonstrated a loss of activity above 35-37 degrees C. Plasma pheomelanin and urine eumelanin intermediates were reduced and correlated with hair melanin content. This is the first temperature-sensitive tyrosinase mutation to be reported in humans and is analogous to the Siamese mutation in the cat and the Himalayan mutation in the mouse.

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Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

R A King, D Townsend, W Oetting, C G Summers, D P Olds, J G White, and R A Spritz

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Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

R A King, D Townsend, W Oetting, C G Summers, D P Olds, J G White, and R A Spritz

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