Journal of Heredity 2003:94(1)
© 2003 The American Genetic Association 94:69-73
MC1R Studies in Dogs With Melanistic Mask or Brindle Patterns
From the Department of Animal and Poultry Science, University of Saskatchewan, Saskatoon, Saskatchewan, Canada S7N 5A8 (Schmutz and Berryere); Departments of Pediatrics and Genetics and the Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA (Kerns and Barsh); and Department of Pathobiology, University of Pennsylvania, Philadelphia, PA 19104 (Ellinwood).
Address correspondence to Sheila Schmutz at the address above, or e-mail: schmutz{at}sask.usask.ca.
Black mask is a characteristic pattern in which red, yellow, tan, fawn, or brindle dogs exhibit a melanistic muzzle which may extend up onto the ears. Melanistic mask is inherited in several breeds as an autosomal dominant trait, and appears to be a fixed trait in a few breeds of dogs. A MC1R nonsense mutation, R306ter, has been shown to cause a completely red or yellow coat color in certain breeds such as Irish setters, yellow Labrador retrievers, and golden retrievers. The amino acid sequence for the melanocortin receptor 1 gene (MC1R) was examined in 17 dogs with melanistic masks from seven breeds, 19 dogs without melanistic masks, and 7 dogs in which their coat color made the mask difficult to distinguish. We also examined nine brindle dogs of four breeds, including three dogs who also had a black mask. No consistent amino acid change was observed in the brindle dogs. All dogs with a melanistic mask had at least one copy of a valine substitution for methionine at amino acid 264 (M264V) and none were homozygous for the premature stop codon (R306ter). These results suggest that black mask, but not brindle, is caused by a specific MC1R allele.
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