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RESEARCH PRODUCT

Analysis of the melanocortin receptor 1 (MC1R) gene in Sicilian goat breeds

Vincenzo RussoLuca FontanesiRoberta DavoliB. PortolanoFrancesca BerettiRaffaella Finocchiaro

subject

GeneticsCoatintegumentary systemMUTATIONSdigestive oral and skin physiologygoatLocus (genetics)Phenotypic traitCOAT COLOUR GENESBiologySettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoBREEDSMC1RMelanocortin Receptor 1EpistasisAnimal Science and Zoologylcsh:Animal cultureMc1r genelcsh:SF1-1100Melanocortin 1 receptor

description

AbstractMammalian coat colour is mainly determined by the distribution of two different types of melanins: pheomelanin (red/yellow pigments) and eumelanin (black pigments). Their synthesis is regulated by the melanocortin 1 receptor (MC1R/Extension locus) that binds the α-melanocyte-stimulating hormone (α-MSH) and the agouti signalling protein (ASIP, coded by the Agouti locus). In mammals, several studies have reported that loss-of-function mutations in MC1R lead to red/yellow pigmentation, while gain-of-function mutations lead to black/dark colours. Mutations at the Agouti locus exert, in general, epistatic interactions on the Extension locus. In goats, classical genetic studies have indicated that variations at the Agouti locus may be the main source of colour variability within and between breeds, while the effect of the Extension locus on this phenotypic trait has been only partially deduced. In order to better understand the role of the Extension locus on coat colour in this species, here we analysed...

http://hdl.handle.net/10447/40942