A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1).
Tyrosinase is a rate-limiting enzyme in the melanin biosynthetic pathway and a complete defect of the enzyme activity caused by homozygous mutations of the tyrosinase gene is well known to result in tyrosinase-negative oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment in the skin, hair and eyes throughout life. In this paper, we report a novel missense substitution, R239W(CGG --> TGG) of the tyrosinase gene in a patient with tyrosinase-negative OCA.
Nakamura
Eriko
E
Department of Dermatology, Akita University School of Medicine, 1-1-1 Hondo, 010-8543, Akita, Japan.
Miyamura
Yoshinori
Y
Matsunaga
Jun
J
Kano
Yoko
Y
Dakeishi-Hara
Miwako
M
Tanita
Muneo
M
Kono
Michihiro
M
Tomita
Yasushi
Y
D016115:Albinism, Oculocutaneous / Q000201:enzymology* / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D014442:Monophenol Monooxygenase / Q000172:deficiency* / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree
D004247:DNA; D014442:Monophenol Monooxygenase