RT Journal
A1 Marklund, Stefan
A1 Kijas, James
A1 Rodriguez-Martinez, Heriberto
A1 Rönnstrand, Lars
A1 Funa, Keiko
A1 Moller, Maria
A1 Lange, Dirk
A1 Edfors-Lilja, Inger
A1 Andersson, Leif
T1 Molecular Basis for the Dominant White Phenotype in the Domestic Pig
JF Genome Research 
JO Genome Research 
YR 1998 
FD August 01 
VO 8 
IS 8 
SP 826 
OP 833 
DO 10.1101/gr.8.8.826 
UL http://genome.cshlp.org/content/8/8/826.abstract 
AB The change of phenotypic traits in domestic animals and crops as a response to selective breeding mimics the much slower evolutionary change in natural populations. Here, we describe that the dominant white phenotype in domestic pigs is caused by two mutations in theKIT gene encoding the mast/stem cell growth factor receptor (MGF), one gene duplication associated with a partially dominant phenotype and a splice mutation in one of the copies leading to the fully dominant allele. The splice mutation is a G to A substitution in the first nucleotide of intron 17 and leads to skipping of exon 17. The duplication is most likely a regulatory mutation affecting KIT expression, whereas the splice mutation is expected to cause a receptor with impaired or absent tyrosine kinase activity. Immunocytochemistry showed that this variant form is expressed in 17- to 19-day-old pig embryos. Hundreds of millions of white pigs around the world are assumed to be heterozygous or homozygous for the two mutations.[The EMBL accession numbers for porcineKIT1*0101, KIT1*0202, KIT2*0202, and KIT2*0101 areAJ223228–AJ223231, respectively.]