Polymorphisms in MC1R and ASIP genes and their association withcoat color phenotypes in llamas (Lama glama)

• Autores: Daverio, Maria Silvana; Rigalt, Francisco; Romero, Sandra; Vidal Rioja, Lidia Beatriz; Di Rocco, Florencia
• Año de publicación: 2016
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: Biología Celular, Microbiología; Llama; MC1R; ASIP; Polymorphisms; Coat color
• Institución: Comisión de Investigaciones Científicas de la Provincia de Buenos Aires

The melanocortin 1-receptor (MC1R) and the agouti signaling protein (ASIP) are the major genes control-ling the type and location of pigments produced in mammals. In recent years, polymorphisms in thesegenes have been associated with coat color variation in a number of species. Llamas (Lama glama) arecharacterized by a great diversity of coat colors. However, the genetic basis of coat color determinationis still unknown. Here, we sequenced the MC1R and ASIP genes in llamas and studied the associationbetween the polymorphisms identified and the coat color. Sequence analysis revealed ten nonsynony-mous single nucleotide polymorphisms in the MC1R gene. Three main haplotypes were identified, none ofwhich were completely associated to a particular color phenotype. However, significant association wasdetected between the MC1R*1 haplotype and the presence of pigmented coat (P < 0.0001). Compared tothe wild allele, MC1R*1 carried two amino acid substitutions, p.G126S and p.V87 M. This last replacementoccurs at a highly conserved residue among mammals and the same substitution has been previouslyassociated to melanic phenotypes in avian species. Furthermore, two polymorphisms in ASIP exon 4, a57 bp deletion (c.325 381del) and c.292C > T that are both predicted to have a deleterious effect on theprotein, were found in homozygous state or combined in most llamas with eumelanic coat.