Molecular basis of mouse Himalayan mutation

Biochem Biophys Res Commun. 1989 May 30;161(1):252-60. doi: 10.1016/0006-291x(89)91588-x.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Albinism / genetics
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Northern
  • Blotting, Southern
  • Catechol Oxidase / genetics*
  • Cloning, Molecular
  • DNA / isolation & purification
  • Melanocytes / enzymology
  • Melanocytes / physiology*
  • Mice
  • Mice, Inbred C57BL / genetics*
  • Mice, Mutant Strains / genetics*
  • Molecular Sequence Data
  • Monophenol Monooxygenase / genetics*
  • Monophenol Monooxygenase / isolation & purification
  • Mutation*
  • Polymorphism, Restriction Fragment Length


  • DNA
  • Catechol Oxidase
  • Monophenol Monooxygenase

Associated data

  • GENBANK/M26729