Coat colour in farm animals is one of the most important traits that distinguish breeds and populations. This phenotype is mainly determined by the distribution of eumelanins (black pigments) and pheomelanins (red/yellow pigments). Their synthesis is regulated by the melanocortin 1 receptor (MC1R/extension locus) that binds the a-melanocyte-stimulating hormone (alpha- MSH) and the agouti signalling protein (ASIP, coded by the agouti locus). Loss-of-function mutations in MC1R lead to red/yellow pigmentation, while gain-of-function mutations cause black/dark colours. Mutations at the agouti locus exert, in general, epistatic actions over the extension locus. These two key genes have been already characterized in most farm animal species, including the horse in which a few mutations are associated with different coat colours. Only partial sequence information is already available in donkey (Equus asinus) and no mutations affecting coat colour have been reported in this species so far. In this study, we used primer pairs designed on the horse ASIP and MC1R gene sequences to amplify genomic DNA from 10 donkeys (from Ragusano breed of bay coat colour and other not classified animals) with different coat colours and patterns. ASIP and MC1R gene sequences were obtained in Equus asinus, completing information available in GenBank database. Two polymorphic sites were identified in the MC1R gene whereas no variability was observed in the ASIP gene. Other studies are currently underway to evaluate if the identified mutations affect coat colour in donkeys and to identify other mutations associated with coat colour phenotypes in Equus asinus.

Sequence characterization of the agouti signalling protein and melanocortin receptor genes in donkeys with different coat colours

D'ALESSANDRO, ENRICO;
2013-01-01

Abstract

Coat colour in farm animals is one of the most important traits that distinguish breeds and populations. This phenotype is mainly determined by the distribution of eumelanins (black pigments) and pheomelanins (red/yellow pigments). Their synthesis is regulated by the melanocortin 1 receptor (MC1R/extension locus) that binds the a-melanocyte-stimulating hormone (alpha- MSH) and the agouti signalling protein (ASIP, coded by the agouti locus). Loss-of-function mutations in MC1R lead to red/yellow pigmentation, while gain-of-function mutations cause black/dark colours. Mutations at the agouti locus exert, in general, epistatic actions over the extension locus. These two key genes have been already characterized in most farm animal species, including the horse in which a few mutations are associated with different coat colours. Only partial sequence information is already available in donkey (Equus asinus) and no mutations affecting coat colour have been reported in this species so far. In this study, we used primer pairs designed on the horse ASIP and MC1R gene sequences to amplify genomic DNA from 10 donkeys (from Ragusano breed of bay coat colour and other not classified animals) with different coat colours and patterns. ASIP and MC1R gene sequences were obtained in Equus asinus, completing information available in GenBank database. Two polymorphic sites were identified in the MC1R gene whereas no variability was observed in the ASIP gene. Other studies are currently underway to evaluate if the identified mutations affect coat colour in donkeys and to identify other mutations associated with coat colour phenotypes in Equus asinus.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/2549435
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