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

Authors
Daverio, Maria Silvana; Rigalt, Francisco Antonio; Romero, Sandra Raquel; Vidal Rioja, Lidia; Di Rocco, Florencia
Publication Year
2016
Language
English
Format
article
Status
Published version
Description
The melanocortin 1-receptor (MC1R) and the agouti signaling protein (ASIP) are the major genes controlling the type and location of pigments produced in mammals. In recent years, polymorphisms in these genes have been associated with coat color variation in a number of species. Llamas (Lama glama) are characterized by a great diversity of coat colors. However, the genetic basis of coat color determination is still unknown. Here, we sequenced the MC1R and ASIP genes in llamas and studied the association between the polymorphisms identified and the coat color. Sequence analysis revealed ten nonsynonymous single nucleotide polymorphisms in the MC1R gene. Three main haplotypes were identified, none of which were completely associated to a particular color phenotype. However, significant association was detected between the MC1R*1 haplotype and the presence of pigmented coat (P < 0.0001). Compared to the wild allele, MC1R*1 carried two amino acid substitutions, p.G126S and p.V87 M. This last replacement occurs at a highly conserved residue among mammals and the same substitution has been previously associated to melanic phenotypes in avian species. Furthermore, two polymorphisms in ASIP exon 4, a 57 bp deletion (c.325_381del) and c.292C > T that are both predicted to have a deleterious effect on the protein, were found in homozygous state or combined in most llamas with eumelanic coat.
EEA Catamarca
Fil: Daverio, Maria Silvana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Rigalt, Francisco Antonio. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Catamarca; Argentina
Fil: Romero, Sandra Raquel. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Abra Pampa; Argentina
Fil: Vidal Rioja, Lidia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Fil: Di Rocco, Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto Multidisciplinario de Biología Celular. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas. Instituto Multidisciplinario de Biología Celular. Universidad Nacional de La Plata. Instituto Multidisciplinario de Biología Celular; Argentina
Source
Small ruminant research 144 : 83-89. (November 2016)
Subject
Llama
Fenotipos
Polimorfismo
Genes
Genética
Llamas
Phenotypes
Polymorphism
Genetics
Access level
Restricted access
License
Repository
INTA Digital (INTA)
Institution
Instituto Nacional de Tecnología Agropecuaria
OAI Identifier
oai:localhost:20.500.12123/1956