title: A SINE insertion causes the black-and-tan and saddle tan phenotypes in domestic dogs.
abstract: Agouti Signaling Protein (ASIP) controls the localized expression of red and black pigment in the domestic dog through interaction with other genes, such as Melanocortin 1 Receptor and Beta-Defensin 103. Specific ASIP alleles are necessary for many of the coat color patterns, such as black-and-tan and saddle tan. Mutations in 2 ASIP alleles, a(y) and a, have previously been identified. Here, we characterize a mutation consisting of a short interspersed nuclear element (SINE) insertion in intron 1 of ASIP that allows for the differentiation of the a(w) wolf sable and a(t) black-and-tan alleles. The SINE insertion is present in dogs with the a(t) and a alleles but absent from dogs with the a(w) and a(y) alleles. Dogs with the saddle tan phenotype were all a(t)/a(t). Schnauzers were all a(w)/a(w). Genotypes of 201 dogs of 35 breeds suggest that there are only 4 ASIP alleles, as opposed to the 5 or 6 predicted in previous literature. These data demonstrate that the dominance hierarchy of ASIP is a(y) > a(w) > a(t) > a.
authors.affiliation: Department of Animal and Poultry Science, University of Saskatchewan, Saskatoon, Canada. dld842@mail.usask.ca
authors.forename: Dayna L
authors.initials: DL
authors.lastname: Dreger
authors.forename: Sheila M
authors.initials: SM
authors.lastname: Schmutz
mesh_terms: D054366:Agouti Signaling Protein / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D004285:Dogs / Q000235:genetics* / Q000502:physiology; D005838:Genotype; D006197:Hair / Q000502:physiology*; D040582:Inheritance Patterns / Q000235:genetics; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D010641:Phenotype; D010858:Pigmentation / Q000235:genetics* / Q000502:physiology; D017422:Sequence Analysis, DNA; D020086:Short Interspersed Nucleotide Elements / Q000235:genetics*; D013045:Species Specificity
chemical_list: D054366:Agouti Signaling Protein; D017931:DNA Primers