Molecular basis for the dominant white phenotype in the domestic pig.

• 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.]

Ämnesord

LANTBRUKSVETENSKAPER  -- Bioteknologi med applikationer på växter och djur -- Genetik och förädling inom lantbruksvetenskap (hsv//swe)

AGRICULTURAL SCIENCES  -- Agricultural Biotechnology -- Genetics and Breeding in Agricultural Sciences (hsv//eng)

Nyckelord

Alternative Splicing

Animals

Base Sequence

Exons

Genes

Dominant

Genetic Variation

Genotype

Hair Color

genetics

Introns

Leukocyte Count

Molecular Sequence Data

Multigene Family

genetics

Phenotype

Point Mutation

Polymorphism

Restriction Fragment Length

Proto-Oncogene Proteins c-kit

biosynthesis

genetics

Swine

blood

genetics

Transcription

Genetic

Publikations- och innehållstyp

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