title: Molecular basis of mouse Himalayan mutation.
abstract: Many different coat-colors result from the c-locus mutation in the mouse. One of these interesting mutants is a Himalayan, which produces temperature sensitive tyrosinase, and the basis of this sensitivity remains unknown. We cultured Himalayan mouse melanocytes from the skin and constructed a cDNA library; then, we isolated the Himalayan tyrosinase cDNAs and determined the nucleotide sequence. The tyrosinase gene in the Himalayan mouse contains an A----G change at nucleotide 1259 that alters a histidine residue to an arginine residue at amino acid 420. This histidine residue and the surrounding amino acids are conserved in their evolution from mouse to human. Interestingly, the residue with its surrounding eight amino acids are aligned between mouse b-protein and human tyrosinase. These results indicate the possibility that the altered residue at amino acid 420 of mouse tyrosinase may be important in stabilization of the tyrosinase molecule, or in interaction with other molecules, such as tyrosinase inhibitors.
authors.affiliation: Department of Microbiology & Immunology, Indiana University School of Medicine, Indianapolis 46223.
authors.forename: B S
authors.initials: BS
authors.lastname: Kwon
authors.forename: R
authors.initials: R
authors.lastname: Halaban
authors.forename: C
authors.initials: C
authors.lastname: Chintamaneni
mesh_terms: D000417:Albinism / Q000235:genetics; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D015139:Blotting, Southern; D004156:Catechol Oxidase / Q000235:genetics*; D003001:Cloning, Molecular; D004247:DNA / Q000302:isolation & purification; D008544:Melanocytes / Q000201:enzymology / Q000502:physiology*; D051379:Mice; D008810:Mice, Inbred C57BL / Q000235:genetics*; D008817:Mice, Mutant Strains / Q000235:genetics*; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics* / Q000302:isolation & purification; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D004247:DNA; D004156:Catechol Oxidase; D014442:Monophenol Monooxygenase