title: Identification of a tyrosinase (TYR) exon 4 deletion in albino ferrets (Mustela putorius furo).
abstract: Albinism is due to a lack of pigmentation in hair, skin and eye, and has been shown to occur in several animal species. Mutations of the tyrosinase (TYR) gene account for albinism in domestic cats, rabbits, cattle, mice and rats. In this study, we demonstrate that a TYR mutation accounts for albinism in the ferret (Mustela putorius furo). The coding sequence of the five exons of TYR was determined in genomic DNA from wild-type pigmented 'sable' coloured and albino ferrets. It was not possible to amplify TYR exon 4 in albino ferrets originating from different breeds. The deletion of exon 4 in albino ferrets was confirmed by Southern blot hybridization of genomic DNA from albino and pigmented ferrets. This is the first report of a deletion of a TYR exon in a non-human mammal.
authors.affiliation: General Zoology & Neurobiology, and International Graduate School of Neuroscience, Ruhr-University, 44780 Bochum, Germany. wanda@neurobiologie.rub.de
authors.forename: W M
authors.initials: WM
authors.lastname: Blaszczyk
authors.forename: C
authors.initials: C
authors.lastname: Distler
authors.forename: G
authors.initials: G
authors.lastname: Dekomien
authors.forename: L
authors.initials: L
authors.lastname: Arning
authors.forename: K-P
authors.initials: KP
authors.lastname: Hoffmann
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D000417:Albinism / Q000235:genetics / Q000662:veterinary*; D000818:Animals; D015139:Blotting, Southern; D005091:Exons; D005289:Ferrets / Q000033:anatomy & histology / Q000235:genetics*; D014442:Monophenol Monooxygenase / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D014442:Monophenol Monooxygenase