title: Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.
abstract: The melanocortin receptor 1 (MC1R) plays a central role in regulation of eumelanin (black/brown) and phaeomelanin (red/yellow) synthesis within the mammalian melanocyte and is encoded by the classical Extension (E) coat color locus. Sequence analysis of MC1R from seven porcine breeds revealed a total of four allelic variants corresponding to five different E alleles. The European wild boar possessed a unique MC1R allele that we believe is required for the expression of a wild-type coat color. Two different MC1R alleles were associated with the dominant black color in pigs. MC1R*2 was found in European Large Black and Chinese Meishan pigs and exhibited two missense mutations compared with the wild-type sequence. Comparative data strongly suggest that one of these, L99P, may form a constitutively active receptor. MC1R*3 was associated with the black color in the Hampshire breed and involved a single missense mutation D121N. This same MC1R variant was also associated with EP, which results in black spots on a white or red background. Two different missense mutations were identified in recessive red (e/e) animals. One of these, A240T, occurs at a highly conserved position, making it a strong candidate for disruption of receptor function.
authors.affiliation: Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, S-751 24, Uppsala, Sweden.
authors.forename: J M
authors.initials: JM
authors.lastname: Kijas
authors.forename: R
authors.initials: R
authors.lastname: Wales
authors.forename: A
authors.initials: A
authors.lastname: Törnsten
authors.forename: P
authors.initials: P
authors.lastname: Chardon
authors.forename: M
authors.initials: M
authors.lastname: Moller
authors.forename: L
authors.initials: L
authors.lastname: Andersson
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D008969:Molecular Sequence Data; D009154:Mutation; D010858:Pigmentation / Q000235:genetics*; D018043:Receptors, Corticotropin / Q000235:genetics*; D044101:Receptors, Melanocortin; D016415:Sequence Alignment; D017421:Sequence Analysis; D013552:Swine
chemical_list: D018043:Receptors, Corticotropin; D044101:Receptors, Melanocortin