A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

L B Giebel; R K Tripathi; R A King; R A Spritz

doi:10.1172/JCI115075

First published March 1, 1991 - More info

Abstract

Type 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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