Work

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

Year: 1990

Type: article

Abstract: We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. This mutation thus appears to be a frequent cause of tyrosinase-negative oculocutaneous albinism.

Source: Proceedings of the National Academy of Sciences

DOI: 10.1073/pnas.87.9.3255

Authors: L B Giebel, K M Strunk, R A King, J M Hanifin, R A Spritz

Institution: University of Wisconsin–Madison

Language: English

Topic: melanin and skin pigmentation

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: March of Dimes Foundation, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases