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Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene

Author

Michèle Ramsay

Published in: American Journal of Human Genetics

Date of publication: November 1, 1997

Language: English

Main subject: oculocutaneous albinism

Bibliographic databases:

Cites articles 29

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Albinism in Nigeria with delineation of new recessive oculocutaneous type
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Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity
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Tyrosinases from two different loci are expressed by normal and by transformed melanocytes
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The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12
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African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism
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The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids
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A new enzymatic function in the melanogenic pathway. The 5,6-dihydroxyindole-2-carboxylic acid oxidase activity of tyrosinase-related protein-1 (TRP1)
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An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids
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Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"

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