Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions

R. K. Tripathi, K. M. Strunk, L. B. Giebel, Richard Weleber, R. A. Spritz

Research output: Contribution to journalArticle

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Abstract

Type I (tyrosinase-deficient) oculocutaneous albinism (OCA) results from mutations of the gene encoding tyrosinase, the enzyme that catalyzes the first 2 steps of melanin pigment biosynthesis. In type IA (tyrosinase- negative) OCA tyrosinase enzymatic activity is completely absent, and in type IB ('yellow') OCA tyrosinase activity is greatly reduced. Here, we describe 11 novel mutations of the tyrosinase gene in Caucasian patients with these 2 forms of type I OCA. Type I OCA in Caucasians appears to result from a great variety of different uncommon alleles. More than 80% of the known missense substitutions associated with type I OCA cluster within 2 relatively small regions of the tyrosinase polypeptide, suggesting that these may correspond to functionally important sites within the enzyme.

Original languageEnglish (US)
Pages (from-to)865-871
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume43
Issue number5
DOIs
Publication statusPublished - 1992
Externally publishedYes

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Keywords

  • albino
  • melanin
  • mutation
  • pigmentation disorders

ASJC Scopus subject areas

  • Genetics(clinical)

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