title: A point mutation in the tyrosinase gene of BALB/c albino mouse causing the cysteine----serine substitution at position 85.
abstract: Murine albinism is characterized by complete lack of melanin pigments in skin and retina. In order to study the molecular basis of albinism, we have cloned and characterized the tyrosinase gene of BALB/c mice (c/c). Sequence analysis of this gene reveals a point mutation at nucleotide residue 387 (G----C transversion) causing a Cys----Ser substitution at position 85 in one of the cysteine-rich domains of the tyrosinase molecule. Since this G----C transversion creates an additional DdeI site, we were able to confirm that this mutation is actually present in BALB/c genomic DNA using DNA amplification techniques. In contrast, both C57BL/6 (C/C) and DBA/2 (C/C) mouse strains carry the G residue at the same position, suggesting that this point mutation is specific for the albino mutation at the c locus. Moreover, we were able to show that the tyrosinase containing Ser-85 is not functional in transient expression of its cDNA. We therefore suggest that a G----C transversion at nucleotide residue 387 of the tyrosinase gene could lead to the albino phenotype of BALB/c mouse.
authors.affiliation: Department of Applied Physiology, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Shibahara
authors.forename: S
authors.initials: S
authors.lastname: Okinaga
authors.forename: Y
authors.initials: Y
authors.lastname: Tomita
authors.forename: A
authors.initials: A
authors.lastname: Takeda
authors.forename: H
authors.initials: H
authors.lastname: Yamamoto
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: T
authors.initials: T
authors.lastname: Takeuchi
mesh_terms: D000417:Albinism / Q000201:enzymology / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D004156:Catechol Oxidase / Q000235:genetics*; D003545:Cysteine; D005091:Exons; D005784:Gene Amplification; D015723:Gene Library; D051379:Mice; D008807:Mice, Inbred BALB C; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D015345:Oligonucleotide Probes; D010641:Phenotype; D011401:Promoter Regions, Genetic; D015183:Restriction Mapping; D012694:Serine
chemical_list: D015345:Oligonucleotide Probes; D012694:Serine; D004156:Catechol Oxidase; D014442:Monophenol Monooxygenase; D003545:Cysteine