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Molecular basis for the dominant white phenotype in the domestic pig

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Author

  • Stefan Marklund
  • J Kijas
  • H Rodriguez-Martinez
  • Lars Rönnstrand
  • Keiko Funa
  • Maria Moller
  • Dirk Lange
  • I Edfors-Lilja
  • Leif Andersson

Summary, in English

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.]

Publishing year

1998

Language

English

Pages

826-833

Publication/Series

Genome Research

Volume

8

Issue

8

Document type

Journal article

Publisher

Cold Spring Harbor Laboratory Press (CSHL)

Topic

  • Medicinal Chemistry

Keywords

  • 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

Status

Published

ISBN/ISSN/Other

  • ISSN: 1549-5469