Genetics, Vol. 160, 305-311, January 2002, Copyright © 2002

Unexpectedly High Allelic Diversity at the KIT Locus Causing Dominant White Color in the Domestic Pig

G. Pielberga, C. Olssonb,c, A.-C. Syvänenb, and L. Anderssona
a Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, S-751 24 Uppsala, Sweden,
b Molecular Medicine, Department of Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden and
c Department of Genetics and Pathology, Uppsala University, S-751 85 Uppsala, Sweden

Corresponding author: L. Andersson, Department of Animal Breeding and Genetics, BMC, Box 597, S-751 24 Uppsala, Sweden., leif.andersson{at}hgen.slu.se (E-mail)

Communicating editor: C. HALEY

Mutations in KIT encoding the mast/stem cell growth factor receptor (MGF) are responsible for coat color variation in domestic pigs. The dominant white phenotype is caused by two mutations, a gene duplication and a splice mutation in one of the copies leading to skipping of exon 17. Here we applied minisequencing and pyrosequencing for quantitative analysis of the number of copies with the splice form. An unexpectedly high genetic diversity was revealed in white pigs. We found four different KIT alleles in a small sample of eight Large White females used as founder animals in a wild boar intercross. A similar number of KIT alleles was found in commercial populations of white Landrace and Large White pigs. We provide evidence for at least two new KIT alleles in pigs, both with a triplication of the gene. The results imply that KIT alleles with the duplication are genetically unstable and new alleles are most likely generated by unequal crossing over. This study provides an improved method for genotyping the complicated Dominant white/KIT locus in pigs. The results also suggest that some alleles may be associated with negative pleiotropic effects on other traits.




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