A genome-wide scan study identifies a single nucleotide substitution in MC1R gene associated with white coat colour in fallow deer (Dama dama)

Background: The coat colour of fallow deer can be highly variable and even white animals can regularly be observed in game farming and in the wild. Affected animals show a dilution of coat colour, but no albinism. Eyes and claws of the animals are pigmented. To facilitate the conservation and management of the animals, it would be helpful to know the responsible gene and mutation. We collected 102 samples from 22 white animals and from 80 animals with differently pigmented coat colour. The samples came from 12 different wild flocks or game conservations located in different regions in Germany, at the Border to Luxembourg and in Poland. One white hind and her brown calf were shot and their genomes were sequenced. Results: Based on a list of colour genes of the International Federation of Pigment Cell Societies (http://www.ifpcs.org/albinism/), a non-synonymous mutation with exchange of a leucine by proline at position 48 of the MC1R receptor protein was identified as the cause of coat colour dilution. A gene test led to exactly matching genotypes in all examined animals. The study showed that 14% of the pigmented (brown or black) animals carried the white gene variant.Conclusions: A genome-wide scan study lead to a molecular test to determine the coat colour of fallow deer. Identification of the MC1R gene provides a deeper insight into the mechanism of dilution. The gene marker is now available for the conservation of white fallow deer in wild and farm animals.