Molecular basis for the dominant white phenotype in the domestic pig

Research output: Contribution to journalArticle


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 the KIT 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 porcine KIT1*0101, KIT1*0202, KIT2*0202, and KIT2*0101 are AJ223228-AJ223231, respectively.]


  • Stefan Marklund
  • J Kijas
  • H Rodriguez-Martinez
  • Lars Rönnstrand
  • Keiko Funa
  • Maria Moller
  • Dirk Lange
  • I Edfors-Lilja
  • Leif Andersson
External organisations
  • External Organization - Unknown
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medicinal Chemistry


  • Alternative Splicing Animals Base Sequence Exons Genes, Restriction Fragment Length Proto-Oncogene Proteins c-kit/biosynthesis/*genetics Swine/blood/*genetics *Transcription, Dominant Genetic Variation Genotype Hair Color/*genetics Introns Leukocyte Count Molecular Sequence Data Multigene Family/genetics Phenotype Point Mutation Polymorphism, Genetic
Original languageEnglish
Pages (from-to)826-833
JournalGenome Research
Issue number8
Publication statusPublished - 1998
Publication categoryResearch
Externally publishedYes

Bibliographic note

The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Experimental Clinical Chemistry (013016010)