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

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 s...

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Bibliographic Details
Published in:The Journal of clinical investigation 1991-03, Vol.87 (3), p.1119-1122
Main Authors: GIEBEL, L. B, TRIPATHI, R. K, KING, R. A, SPRITZ, R. A
Format: Article
Language:English
Subjects:
Adult
Albinism, Oculocutaneous - enzymology
Albinism, Oculocutaneous - genetics
Amino Acid Sequence
Aminoacid disorders
Base Sequence
Biological and medical sciences
Errors of metabolism
Female
Genes
Humans
Medical sciences
Metabolic diseases
Molecular Sequence Data
Monophenol Monooxygenase - genetics
Mutation
Pedigree
Polymerase Chain Reaction
Structure-Activity Relationship
Temperature
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Description
Summary: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.
ISSN:0021-9738
1558-8238
DOI:10.1172/JCI115075