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

Dermatology

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

59 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

Keywords

Albino
Melanin
Pigment disorders

ASJC Scopus subject areas

General

Access to Document

10.1073/pnas.87.9.3255

Fingerprint Dive into the research topics of 'A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism'. Together they form a unique fingerprint.

Cite this

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. / Giebel, Lutz B.; Strunk, Kathleen M.; King, Richard A.; Hanifin, Jon M.; Spritz, Richard A.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 87, No. 9, 05.1990, p. 3255-3258.

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

@article{745bce55395144ed9a24a8243a24c668,

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",

author = "Giebel, {Lutz B.} and Strunk, {Kathleen M.} and King, {Richard A.} and Hanifin, {Jon M.} and Spritz, {Richard A.}",

year = "1990",

month = may,

doi = "10.1073/pnas.87.9.3255",

language = "English (US)",

volume = "87",

pages = "3255--3258",

journal = "Proceedings of the National Academy of Sciences of the United States of America",

issn = "0027-8424",

publisher = "National Academy of Sciences",

number = "9",

}

TY - JOUR

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

UR - http://www.scopus.com/inward/record.url?scp=0025336408&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025336408&partnerID=8YFLogxK

U2 - 10.1073/pnas.87.9.3255

DO - 10.1073/pnas.87.9.3255

M3 - Article

C2 - 1970634

AN - SCOPUS:0025336408

VL - 87

SP - 3255

EP - 3258

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

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

SN - 0027-8424

IS - 9

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this