title: Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral coat color in reindeer (Rangifer tarandus).
abstract: The protein-coding region of melanocortin 1 receptor (MC1R) was sequenced to identify potential variation affecting coat color in reindeer (Rangifer tarandus). A T→C sequence variation at nucleotide position 218 (c.218T>C) causing an amino acid (aa) change from methionine to threonine at aa position 73 (p.Met73Thr) was identified. In addition, a T→G sequence variation was found at nucleotide position 839 (c.839T>G), causing phenylalanine to be exchanged by cysteine at aa position 280 (p.Phe280Cys). The two sequence variants (c.218C and c.839G) were found to be closely associated with a darker belly coat compared with animals not having any of these two variants. The aa acid change p.Met73Thr affects the same position as p.Met73Lys previously reported to give constitutive activation of MC1R in black sheep (Ovis aries), whereas p.Phe280Cys is identical to one of two variants previously reported to be associated with dark coat color in Arctic fox (Alopex lagopus), supporting that the two variants found in reindeer are functional. The complete absence of Thr73 and Cys280 among the 51 wild reindeer analyzed provides some evidence that these variants are more common in the domestic herds.
authors.affiliation: Centre for Integrative Genetics (CIGENE), Department of Animal and Aquacultural Sciences (IHA), Norwegian University of Life Sciences (NMBU), Ås, N-1432, Norway.
authors.forename: D I
authors.initials: DI
authors.lastname: Våge
authors.forename: M
authors.initials: M
authors.lastname: Nieminen
authors.forename: D G
authors.initials: DG
authors.lastname: Anderson
authors.forename: K H
authors.initials: KH
authors.lastname: Røed
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D005838:Genotype; D006197:Hair; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010858:Pigmentation / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012053:Reindeer / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D044102:Receptor, Melanocortin, Type 1
keywords: coding gene; domestication; genetic variant; phenotype