The change of phenotypic traits in domestic animals and crops as a res
ponse to selective breeding mimics the much slower evolutionary change
in natural populations. Here, we describe that the dominant white phe
notype in domestic pigs is caused by two mutations in the KIT gene enc
oding the mast/stem cell growth factor receptor (MGF), one gene duplic
ation associated with a partially dominant phenotype and a splice muta
tion in one of the copies leading to the fully dominant allele. The sp
lice mutation is a G to A substitution in the first nucleotide of intr
on 17 and leads to skipping of exon 17. The duplication is most likely
a regulatory mutation affecting KIT expression, whereas the splice mu
tation is expected to cause a receptor with impaired or absent tyrosin
e kinase activity. Immunocytochemistry showed that this variant form i
s expressed in 17- to 19-day-old pig embryos. Hundreds of millions of
white pigs around the world are assumed to be heterozygous or homozygo
us for the two mutations.