Mutations of the tyrosinase gene in oculocutaneous albinism.

S. Shibahara

研究成果: Article査読

6 被引用数 (Scopus)


Since our first report showing that the phenotype of tyrosinase-negative or type IA oculocutaneous albinism (OCA) is a consequence of a mutation in the tyrosinase gene (Tomita et al., Biochem. Biophys. Res. Commun., 164:990-996, 1989), a number of mutations were found in the tyrosinase gene of OCA patients. However, to establish the molecular basis of OCA in each patient, we must carry out several important experiments as summarized here. First, we should confirm that the cloned or amplified genomic DNA segments are not derived from the pseudogene or related gene. It should be noted that the putative tyrosinase pseudogene contains the sequence almost identical to exons 4 and 5, including their exon/intron boundaries of the authentic tyrosinase gene. Thus, the mutations, detected in exon 4 or 5 amplified from genomic DNA, must be carefully analyzed to exclude a possibility that the mutation is located in the pseudogene. Second, it is of significance to confirm the promoter activity of the patients' tyrosinase gene. Accordingly, we established the cell-free transcription system derived from melanoma cells where the cloned tyrosinase gene is faithfully transcribed. Finally, transient expression assay of mutant tyrosinase is invaluable to conclude that OCA phenotypes are associated with the mutant tyrosinase alleles. I also discuss the implications of a cluster of mutation sites in exon 1 coding for the amino-terminus of tyrosinase.

ジャーナルPigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society
5 Pt 2
出版ステータスPublished - 1992 11月

ASJC Scopus subject areas

  • 農業および作物学
  • 植物科学
  • 細胞生物学
  • 臨床生化学
  • 発生生物学


「Mutations of the tyrosinase gene in oculocutaneous albinism.」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。