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PMID: 1900309 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

The Journal of clinical investigation ·Vol. 87 ·No. 3 ·1991-03-00 ·Pages 1119-22

Giebel LB, Tripathi RK, King RA, Spritz RA

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.

MeSH Terms
Adult Albinism, Oculocutaneous/enzymology,genetics Amino Acid Sequence Base Sequence Female Genes Humans Molecular Sequence Data Monophenol Monooxygenase/genetics Mutation Pedigree Polymerase Chain Reaction Structure-Activity Relationship Temperature
Chemicals
Monophenol Monooxygenase
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Giebel L B
Department of Medical Genetics, University of Wisconsin, Madison 53706.
Tripathi R K
King R A
Spritz R A
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21 references, click to expand
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
DOI
10.1172/JCI115075
Published
1991-03-00
Pages
1119-22
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC329910
Subset
IM
Grants
NIAMS NIH HHS · AR-39892 · United States
External Links
PubMed source DOI: 10.1172/JCI115075 PMC Full Text View journal details
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