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A Single Base Insertion in the Putative Transmembrane Domain of the Tyrosinase Gene as a Cause for Tyrosinase-Negative Oculocutaneous Albinism

Chaya D. Chintamaneni, Ruth Halaban, Yvonne Kobayashi, Carl J. Witkop, Jr. and Byoung S. Kwon
Proceedings of the National Academy of Sciences of the United States of America
Vol. 88, No. 12 (Jun. 15, 1991), pp. 5272-5276
Stable URL: http://www.jstor.org/stable/2356934
Page Count: 5
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Since scans are not currently available to screen readers, please contact JSTOR User Support for access. We'll provide a PDF copy for your screen reader.
A Single Base Insertion in the Putative Transmembrane Domain of the Tyrosinase Gene as a Cause for Tyrosinase-Negative Oculocutaneous Albinism
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Abstract

We have determined a molecular defect to be the likely basis for inactivity of the tyrosinase (EC 1.14.18.1) from a patient with tyrosinase-negative oculocutaneous albinism. A single base (thymine) was inserted in exon 5 of the tyrosinase gene following codon 471 in the putative transmembrane coding region. This insertion caused a shift in the reading frame of 19 amino acids at the 3' end and introduced a premature termination signal that would be expected to truncate the protein by 21 amino acids at the carboxyl terminus. The albino tyrosinase was not recognized by antibodies directed to the carboxyl terminus of tyrosinase. Furthermore, as shown by gel electrophoresis of the immunoprecipitated protein, the tyrosinase was ≈3 kDa smaller than normal. Similar immunoprecipitation data were obtained when cloned normal and mutant tyrosinases were expressed in COS-1 cells.

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