Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

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Abstract

Tyrosinase-negative oculocutaneous albinism (OCA) is an inborn error of metabolism, characterized by a complete lack of melanin pigments in the eyes and skin. We have isolated and characterized the tyrosinase gene of one affected child (S.S.) with tyrosinase-negative OCA. Sequence analysis reveals a single-base insertion in the exon 2 that shifts the reading frame and introduces a premature termination signal (TGA codon) after the amino acid residue 298. Functional analysis of the mutated gene indicates that such a truncated tyrosinase lacking one potential copper-binding region is catalytically inactive. We therefore conclude that the albino phenotype of the patient S.S. is a consequence of the inactive tyrosinase caused by the nonsense mutation in the tyrosinase gene.

References (14)

  • A.B. Lerner et al.

    J. Biol. Chem

    (1949)
  • A. Takeda et al.

    Biochem. Biophys. Res. Commun

    (1989)
  • A.M. Maxam et al.

    Methods Enzymol

    (1980)
  • S. Shibahara et al.

    J. Biol. Chem

    (1987)
  • C.J. Witkop et al.

    Am. J. Hum. Genet

    (1970)
  • C.J. Witkop et al.
  • H. Tohda et al.

    Cancer Res

    (1978)
There are more references available in the full text version of this article.

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