Deleterious mutations of MC1R in guinea pig

Abstract

In guinea pigs (Cavia porcellus) the Extension locus has three alleles E > ep > e related to black eumelanic, bicolor and brown phaeomelanic phenotypes, respectively. This locus has been molecularly characterized as the melanocortin receptor (MC1R) gene in other animals and it codes for a G-coupled receptor that regulates the synthesis of eumelanins and phaeomelanins. Genetic changes causing the inactivation of the receptor lead to the exclusive production of yellow-brown phaeomelanins, while the constitutive activation is linked to the synthesis of black eumelanins. In this context, the objective of this study is to molecularly characterize MC1R and its variations in guinea pig, and to assess their associations with the coat colors of the Extension locus