title: Melanism in guinea fowl (Numida meleagris) is associated with a deletion of Phenylalanine-256 in the MC1R gene.
abstract: We have characterized a deletion in the MC1R gene causing the loss of one amino acid (p.Phe256del), which is perfectly associated with melanism in guinea fowl (Numida meleagris). Co-segregation of the p.Phe256del with melanism was confirmed in 25 offspring born from a cross of two heterozygote birds; therefore we suggest that this mutation is responsible for the black phenotype. Interestingly, this is the first case of recessive melanism linked to MC1R.
authors.affiliation: Departament de Biologia, Universitat de Girona, Girona, Catalonia, Spain. oriol.vidal@udg.cat
authors.forename: O
authors.initials: O
authors.lastname: Vidal
authors.forename: R M
authors.initials: RM
authors.lastname: Araguas
authors.forename: E
authors.initials: E
authors.lastname: Fernández
authors.forename: S
authors.initials: S
authors.lastname: Heras
authors.forename: N
authors.initials: N
authors.lastname: Sanz
authors.forename: C
authors.initials: C
authors.lastname: Pla
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics*; D000818:Animals; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D005241:Feathers / Q000737:chemistry; D046094:Galliformes / Q000235:genetics; D005838:Genotype; D008548:Melanosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D010649:Phenylalanine / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D013045:Species Specificity
chemical_list: D017931:DNA Primers; D044102:Receptor, Melanocortin, Type 1; D010649:Phenylalanine; D004247:DNA