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

Lutz B. Giebel; Kathleen M. Strunk; Richard A. King; Jon M. Hanifin; Richard A. Spritz

doi:10.1073/pnas.87.9.3255

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

Lutz B. Giebel, Kathleen M. Strunk, Richard A. King, Jon M. Hanifin, Richard A. Spritz

Research output: Contribution to journal › Article › peer-review

61 Scopus citations

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.

Original language	English (US)
Pages (from-to)	3255-3258
Number of pages	4
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	87
Issue number	9
DOIs	https://doi.org/10.1073/pnas.87.9.3255
State	Published - May 1990
Externally published	Yes

Keywords

Albino
Melanin
Pigment disorders

ASJC Scopus subject areas

General

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10.1073/pnas.87.9.3255

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

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.",

keywords = "Albino, Melanin, Pigment disorders",

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year = "1990",

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T1 - A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism

AU - Giebel, Lutz B.

AU - Strunk, Kathleen M.

AU - King, Richard A.

AU - Hanifin, Jon M.

AU - Spritz, Richard A.

PY - 1990/5

Y1 - 1990/5

N2 - 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.

AB - 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.

KW - Albino

KW - Melanin

KW - Pigment disorders

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JO - Proceedings of the National Academy of Sciences of the United States of America

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

Abstract

Keywords

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