Molecular Basis for the Dominant White Phenotype in the Domestic Pig

Abstract

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

Sequence characterization of the melanocortin 1 receptor (MC1R) gene in sheep with different coat colours and identification of the putative e allele at the ovine Extension locus

“…This could be an indirect proof of the fact that the Agouti locus would not have any direct effect on this coat colour and (an)other locus (loci) (epistatic over Extension and Agouti) should be involved in determining white coat colour in these animals. Epistatic effects of white caused by KIT gene alleles have been already described in pigs (Fontanesi et al, in press-b;Marklund et al, 1998).…”

Genetic Architecture of Tameness in a Rat Model of Animal Domestication

“…Allelic variants of homologs of rat Kit, or of the gene for the Kit ligand (Kitl; RefSeq NM_021843), are known to cause white coat color variants in mice ( Jackson 1994), pigs (Marklund et al 1998), horses (Haase et al 2007), and stickleback fish (Miller et al 2007). Thus, Kit is an excellent candidate for causing the white coat spots in the rats studied here.…”

Overexpression of Porcine Kit Gene in Transgenic Mice Does not Affect Melanogenesis

“…All animal experiments were approved by the Institutional Animal Care and Use Committee of KRIBB (approval number: KRIBB-AEC-17103) and were performed in accordance with the Guide for the Care and Use of Laboratory Animals published by the U.S. National Institutes of Health [18][19][20]. All animals had free access to food and water during the experiments.…”