Pigs with the dominant white coat color phenotype carry a duplication of the KIT gene encoding the mast/stem cell growth factor receptor |
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Authors: | M Johansson Moller R Chaudhary E Hellmén B Höyheim B Chowdhary L Andersson |
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Institution: | (1) Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, BMC, Box 597, S-75124 Uppsala, Sweden, SE;(2) Department of Pathology, Swedish University of Agricultural Sciences, S-750 07 Uppsala, Sweden, SE;(3) Department of Biochemistry, Physiology and Nutrition, Norwegian College of Veterinary Medicine, N-0033 Oslo, Norway, NO |
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Abstract: | Comparative mapping data suggested that the dominant white coat color in pigs may be due to a mutation in KIT which encodes the mast/stem cell growth factor receptor. We report here that dominant white pigs lack melanocytes in the
skin, as would be anticipated for a KIT mutation. We found a complete association between the dominant white mutation and a duplication of the KIT gene, or part of it, in samples of unrelated pigs representing six different breeds. The duplication was revealed by single
strand conformation polymorphism (SSCP) analysis and subsequent sequence analysis showing that white pigs transmitted two
nonallelic KIT sequences. Quantitative Southern blot and quantitative PCR analysis, as well as fluorescence in situ hybridization (FISH)
analysis, confirmed the presence of a gene duplication in white pigs. FISH analyses showed that KIT and the very closely linked gene encoding the platelet-derived growth factor receptor (PDGFRA) are both located on the short
arm of Chromosome (Chr) 8 at band 8p12. The result revealed an extremely low rate of recombination in the centromeric region
of this chromosome, since the closely linked (0.5 cM) serum albumin (ALB) locus has previously been in situ mapped to the long arm (8q12). Pig Chr 8 shares extensive conserved synteny with human
Chr 4, but the gene order is rearranged.
Received: 22 March 1996 / Accepted: 24 June 1996 |
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