L B Giebel, R K Tripathi, R A King, R A Spritz
J Clin Invest.
1991;
87(3):1119–1122
doi:10.1172/JCI115075
This article Copyright © 1991, The American Society for Clinical Investigation
Abstract
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T
ype I oculocutaneous albinism (OCA) is an autosomal recessive disorder in which deficient synthesis of melanin pigment results from abnormal activity of melanocyte tyrosinase. A novel type I OCA phenotype in which hypopigmentation is related to local body temperature is associated with a missense substitution in tyrosinase, codon 422 CGG (Arg)----CAG (Gln). This substitution results in a tyrosinase polypeptide that is temperature-sensitive. This form of type I OCA thus is homologous to the temperature-related forms of albinism seen in the Siamese cat and the Himalayan mouse.
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