Identification of mutations in the bovine KIT gene, a candidate for the Spotted locus in cattle

In mammals, abnormal migration of melanoblasts from the neural crest during embryonic development may be the reason of the pielbaldism phenotype that is a mixture of pigmented and unpigmented areas in the coat. Several cattle breeds, like for example Holstein, show the piebald spotted coat colour phenotype, that, according to crossbreeding studies, is due to a recessive allele (s), member of the allele series of the Spotted (S) locus. Dominant alleles at this locus act as suppressors of the spotted pattern and produce uniformly pigmented animals while others determine the colour-sided pattern known, for example, in the Hereford breed. The bovine v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene (KIT) gene was localized in the region of chromosome 6 where the Spotted locus was mapped. KIT plays a major role during the embryonic development in directing the migration of the melanoblasts from the neural crest. Mutations in this gene cause different coat colour patterns in mouse and human. In pigs.