title: Association of a Glu92Lys substitution in MC1R with extended brown in Japanese quail (Coturnix japonica).
abstract: We investigated melanocortin 1 receptor (MC1R) as a candidate locus for the Extended brown phenotype in quail, in which there is a general darkening throughout the plumage. An initial screen of variation in MC1R in Extended brown and in wild-type quails revealed two polymorphic non-synonymous sites. One of these sites, a G-to-A substitution leading to a Glu92Lys mutation, was perfectly associated with plumage phenotype; all Extended brown birds were homozygous for Lys92. Co-segregation of the Glu92Lys mutation with the Extended brown phenotype was confirmed in 24 progeny of an E/e(+) x E/e(+) cross. Glu92Lys is likely to be the causative mutation for the increased melanism in Extended brown, given that the same mutation is associated with melanic plumage in many breeds of domestic chicken, as well as in a wild passerine bird (the bananaquit, Coereba flaveola) and laboratory mice. Interestingly, the increase in melanization with the Glu92Lys mutation is less marked in quails than in most other birds and mammals. Phylogenetic results indicate that the Glu92Lys mutation has independently occurred in quail and chicken lineages.
authors.affiliation: Department of Zoology, University of Cambridge, Downing Street, Cambridge CB2 3EJ, UK.
authors.forename: N J
authors.initials: NJ
authors.lastname: Nadeau
authors.forename: F
authors.initials: F
authors.lastname: Minvielle
authors.forename: N I
authors.initials: NI
authors.lastname: Mundy
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D030161:Avian Proteins / Q000235:genetics* / Q000502:physiology; D003116:Color; D003370:Coturnix / Q000033:anatomy & histology / Q000235:genetics*; D018698:Glutamic Acid / Q000235:genetics; D008239:Lysine / Q000235:genetics; D020125:Mutation, Missense; D010641:Phenotype; D010802:Phylogeny; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics* / Q000502:physiology; D016415:Sequence Alignment; D020539:Sequence Analysis, Protein
chemical_list: D030161:Avian Proteins; D044102:Receptor, Melanocortin, Type 1; D018698:Glutamic Acid; D008239:Lysine