ASIP and MC1R Mutations Causing Black Coat Colour in Five Swedish Sheep Breeds

Abstract Text: Black coat colour in sheep can be determined by the recessive black allele (A^a) in Agouti signaling protein (ASIP) and the dominant black allele (E^D) in Melanocortin receptor 1 (MC1R).  A^a is a 5 bp deletion (D₅) or a mutation (g.5172T>A), and E^D is attributed to two mutations; c.218T>A and c.361G>A.  ASIP and MC1R coding regions were sequenced in 26 black and 21 white Swedish sheep from Gute, Finewool, Klövsjö, Roslags and Värmlands breeds.  Three combinations of D₅ and g.5172T>A, where one or both of the mutations were homozygous, were only found in black sheep.  The only wildtype animal was white with the remaining sheep, 10 black and 20 white, heterozygous in one or both of the mutations.  Animals homozygous or heterozygous for mutations c.218T>A and c.361G>A were black Finewool sheep.  Seven black individuals were not black due to A^a or E^D.

Keywords: ASIP
MC1R
sheep