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J Clin Invest. 1991 Mar;87(3):1119-22.

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

Author information

1
Department of Medical Genetics, University of Wisconsin, Madison 53706.

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.

PMID:
1900309
PMCID:
PMC329910
DOI:
10.1172/JCI115075
[Indexed for MEDLINE]
Free PMC Article

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