title: Association of an Agouti allele with fawn or sable coat color in domestic dogs.
abstract: The type of pigment synthesized in mammalian hair, yellow-red pheomelanin or black-brown eumelanin, depends on the interaction between Agouti protein and the Melanocortin 1 receptor. Although the genetics of pigmentation is broadly conserved across most mammalian species, pigment type-switching in domestic dogs is unusual because a yellow-tan coat with variable amounts of dark hair is thought to be caused by an allele of the Agouti locus referred to as fawn or sable (a(y)). In a large survey covering thirty seven breeds, we identified an Agouti allele with two missense alterations, A82S and R83H, which was present (heterozygous or homozygous) in 41 dogs (22 breeds) with a fawn or sable coat, but was absent from 16 dogs (8 breeds) with a black-and-tan or tricolor phenotype. In an additional 33 dogs (14 breeds) with a eumelanic coat, 8 (German Shepherd Dogs, Groenendaels, Schipperkes, or Shetland Sheepdogs) were homozygous for a previously reported mutation, non-agouti R96C; the remainder are likely to have carried dominant black, which is independent of and epistatic to Agouti. This work resolves some of the complexity in dog coat color genetics and provides diagnostic opportunities and practical guidelines for breeders.
authors.affiliation: Department of Animal and Poultry Science, University of Saskatchewan, 51 Campus Drive, Saskatoon, Saskatchewan, Canada S7N 5A8.
authors.forename: Tom G
authors.initials: TG
authors.lastname: Berryere
authors.forename: Julie A
authors.initials: JA
authors.lastname: Kerns
authors.forename: Gregory S
authors.initials: GS
authors.lastname: Barsh
authors.forename: Sheila M
authors.initials: SM
authors.lastname: Schmutz
mesh_terms: D054366:Agouti Signaling Protein; D000483:Alleles; D000818:Animals; D001483:Base Sequence; D017931:DNA Primers; D004285:Dogs / Q000235:genetics*; D006197:Hair / Q000502:physiology*; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010858:Pigmentation / Q000235:genetics* / Q000502:physiology; D017422:Sequence Analysis, DNA; D013045:Species Specificity
chemical_list: D054366:Agouti Signaling Protein; D017931:DNA Primers; D036341:Intercellular Signaling Peptides and Proteins