title: A Tyrosinase missense mutation causes albinism in the Wistar rat.
abstract: Tyrosinase serves as a key enzyme in the synthesis of melanin. In humans mutations in the TYR gene are associated with type 1 oculocutaneous albinism (OCA1) that leads to reduced or absent pigmentation of skin, hair and eye. Various mutations causing OCA in man, mouse, rabbit and cattle have been identified throughout the Tyrosinase gene including nonsense, missense, frameshift and splice site alterations. Here we report a missense substitution at codon R299H in exon 2 of the Tyr gene in the albino Wistar rat. As this very exchange has already been described in OCA patients, our findings reinforce the significance of this region for normal catalytic activity of tyrosinase protein.
authors.affiliation: General Zoology and Neurobiology, Ruhr-University, 44780 Bochum, Germany. wanda@neurobiologie.rub.de
authors.forename: Wanda M
authors.initials: WM
authors.lastname: Blaszczyk
authors.forename: Larissa
authors.initials: L
authors.lastname: Arning
authors.forename: Klaus-Peter
authors.initials: KP
authors.lastname: Hoffmann
authors.forename: Joerg T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D000417:Albinism / Q000201:enzymology / Q000235:genetics*; D000818:Animals; D014442:Monophenol Monooxygenase / Q000235:genetics*; D020125:Mutation, Missense; D010858:Pigmentation / Q000235:genetics*; D051381:Rats; D020318:Rats, Long-Evans; D017208:Rats, Wistar
chemical_list: D014442:Monophenol Monooxygenase