Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus)

Leslie A Lyons, D. L. Imes, H. C. Rah, Robert A Grahn

Research output: Contribution to journalArticlepeer-review

79 Scopus citations


The Siamese cat has a highly recognized coat colour phenotype that expresses pigment at the extremities of the body, such as the ears, tail and paws. This temperature-sensitive colouration causes a 'mask' on the face and the phenotype is commonly referred to as 'pointed'. Burmese is an allelic variant that is less temperature-sensitive, producing more pigment throughout the torso than Siamese. Tyrosinase (TYR) mutations have been suspected to cause these phenotypes because mutations in TYR are associated with similar phenotypes in other species. Linkage and synteny mapping in the cat has indirectly supported TVR as the causative gene for these feline phenotypes. TYR mutations associated with Siamese and Burmese phenotypes are described herein. Over 200 cats were analysed, representing 12 breeds as well as randomly bred cats. The SNP associated with the Siamese phenotype is an exon 2 G > A transition changing glycine to arginine (G302R). The SNP associated with the Burmese phenotype is an exon 1 G > T transversion changing glycine to tryptophan (G227W). The G302R mutation segregated concordantly within a pedigree of Himalayan (pointed) Persians. All cats that had 'pointed' or the Burmese coat colour phenotype were homozygous for the corresponding mutations, respectively, suggesting that these phenotypes are a result of the identified mutations or unidentified mutations that are in linkage disequilibrium. Because the same mutations were identified in different breeds with similar phenotypes, the mutations are likely to be identical by descent rather than multiple mutation events occurring at the same site.

Original languageEnglish (US)
Pages (from-to)119-126
Number of pages8
JournalAnimal Genetics
Issue number2
StatePublished - Apr 2005


  • Albinism
  • Albino
  • Burmese
  • Domestic cat
  • Felis catus
  • Siamese
  • Temperature-sensitive
  • Tonkinese
  • Tyrosinase

ASJC Scopus subject areas

  • Medicine(all)
  • Animal Science and Zoology
  • Genetics


Dive into the research topics of 'Tyrosinase mutations associated with Siamese and Burmese patterns in the domestic cat (Felis catus)'. Together they form a unique fingerprint.

Cite this