title: Variability of the melanocortin 1 receptor (MC1R) gene explains the segregation of the bronze locus in turkey (Meleagris gallopavo).
abstract: By sequencing the full coding region of the turkey melanocortin 1 receptor (MC1R) gene, we have found 4 mutations (c.96G > A, c.364A > T, c.450C > T, and c.887C > T) that are organized in 5 different haplotypes (MC1R*1 to MC1R*5). These haplotypes correlate perfectly with the 3 alleles of the bronze locus (i.e., B, b(+), and b(1)). We suggest that the dominant black phenotype, associated with the B allele, results from the constitutive activation of the receptor, an effect that might be mediated by the missense mutation c.364A > T (p.Ile122Phe). Moreover, we propose that the recessive black-winged bronze phenotype (linked to b(1)) might be produced by 2 deleterious mutations of MC1R (c.96G > A and c.887C > T). This is an unexpected finding because in mammals, MC1R deleterious polymorphisms are usually related with either red or lighter fur colors.
authors.affiliation: Departament de Biologia, Universitat de Girona, E-17071 Girona, Catalonia, Spain. oriol.vidal@udg.cat
authors.forename: O
authors.initials: O
authors.lastname: Vidal
authors.forename: J
authors.initials: J
authors.lastname: Viñas
authors.forename: C
authors.initials: C
authors.lastname: Pla
mesh_terms: D000818:Animals; D002874:Chromosome Mapping / Q000379:methods; D020090:Chromosome Segregation / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D005241:Feathers / Q000737:chemistry; D014644:Genetic Variation; D006239:Haplotypes / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D013045:Species Specificity; D014422:Turkeys / Q000235:genetics*
chemical_list: D017931:DNA Primers; D044102:Receptor, Melanocortin, Type 1; D004247:DNA