Experts and Doctors on monophenol monooxygenase in Miyagi, Japan
Locale: Miyagi, Japan
Topic: monophenol monooxygenase
Shibahara S. Mutations of the tyrosinase gene in oculocutaneous albinism. Pigment Cell Res. 1992;5:279-83 pubmed
..I also discuss the implications of a cluster of mutation sites in exon 1 coding for the amino-terminus of tyrosinase. ..
Shibahara S, Taguchi H, Muller R, Shibata K, Cohen T, Tomita Y, et al
. Structural organization of the pigment cell-specific gene located at the brown locus in mouse. Its promoter activity and alternatively spliced transcript. J Biol Chem. 1991;266:15895-901 pubmed
..Using transient expression assays, we confirmed that such an isoform is able to react with anti-b-locus protein monoclonal antibody, TMH-1, suggesting that a b-locus protein isoform may have some function in pigmentation. ..
Takeda A, Tomita Y, Matsunaga J, Tagami H, Shibahara S. Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. J Biol Chem. 1990;265:17792-7 pubmed
..We therefore propose that the albino phenotype of the patient F. S. is a consequence of the Arg to Gln substitution at position 59 caused by a point mutation in the tyrosinase gene. ..
Takeda A, Tomita Y, Okinaga S, Tagami H, Shibahara S. Functional analysis of the cDNA encoding human tyrosinase precursor. Biochem Biophys Res Commun. 1989;162:984-90 pubmed
..Both tyrosine hydroxylase and dopa oxidase activities were expressed only in the cells transfected with such a full-length cDNA, providing direct evidence that tyrosinase actually possesses a dual catalytic activity. ..
Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun. 1989;164:990-6 pubmed
..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...
Yokoyama K, Yasumoto K, Suzuki H, Shibahara S. Cloning of the human DOPAchrome tautomerase/tyrosinase-related protein 2 gene and identification of two regulatory regions required for its pigment cell-specific expression. J Biol Chem. 1994;269:27080-7 pubmed
..Both regulatory regions contain a CANNTG motif, a well known binding site for a large family of transcription factors possessing a basic helix-loop-helix structure. ..
Yasumoto K, Yokoyama K, Shibata K, Tomita Y, Shibahara S. Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene. Mol Cell Biol. 1994;14:8058-70 pubmed
..These results indicate that MITF is a cell-type-specific factor that is capable of activating transcription of the tyrosinase gene. ..
Amae S, Fuse N, Yasumoto K, Sato S, Yajima I, Yamamoto H, et al
. Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. Biochem Biophys Res Commun. 1998;247:710-5 pubmed
..Moreover, transient cotransfection assays suggested that MITF-A activated transcription of the tyrosinase and tyrosinase-related protein 1 genes. MITF-A/Mitf-a therefore may play an important role in melanogenesis in RPE. ..