TY - JOUR
T1 - Strong signatures of selection in the domestic pig genome
AU - Rubin, Carl-Johan
AU - Megens, Hendrik-Jan
AU - Barrio, Alvaro Martinez
AU - Maqbool, Khurram
AU - Sayyab, Shumaila
AU - Schwochow, Doreen
AU - Wang, Chao
AU - Carlborg, Örjan
AU - Jern, Patric
AU - Jørgensen, Claus Bøttcher
AU - Archibald, Alan L.
AU - Fredholm, Merete
AU - Groenen, Martien A.M.
AU - Andersson, Leif
PY - 2012/11/27
Y1 - 2012/11/27
N2 - Domestication of wild boar (Sus scrofa) and subsequent selection have resulted in dramatic phenotypic changes in domestic pigs for a number of traits, including behavior, body composition, reproduction, and coat color. Here we have used whole-genome resequencing to reveal some of the loci that underlie phenotypic evolution in European domestic pigs. Selective sweep analyses revealed strong signatures of selection at three loci harboring quantitative trait loci that explain a considerable part of one of the most characteristic morphological changes in the domestic pig—the elongation of the back and an increased number of vertebrae. The three loci were associated with the NR6A1, PLAG1, and LCORL genes. The latter two have repeatedly been associated with loci controlling stature in other domestic animals and in humans. Most European domestic pigs are homozygous for the same haplotype at these three loci. We found an excess of derived nonsynonymous substitutions in domestic pigs, most likely reflecting both positive selection and relaxed purifying selection after domestication. Our analysis of structural variation revealed four duplications at the KIT locus that were exclusively present in white or white-spotted pigs, carrying the Dominant white, Patch, or Belt alleles. This discovery illustrates how structural changes have contributed to rapid phenotypic evolution in domestic animals and how alleles in domestic animals may evolve by the accumulation of multiple causative mutations as a response to strong directional selection.
AB - Domestication of wild boar (Sus scrofa) and subsequent selection have resulted in dramatic phenotypic changes in domestic pigs for a number of traits, including behavior, body composition, reproduction, and coat color. Here we have used whole-genome resequencing to reveal some of the loci that underlie phenotypic evolution in European domestic pigs. Selective sweep analyses revealed strong signatures of selection at three loci harboring quantitative trait loci that explain a considerable part of one of the most characteristic morphological changes in the domestic pig—the elongation of the back and an increased number of vertebrae. The three loci were associated with the NR6A1, PLAG1, and LCORL genes. The latter two have repeatedly been associated with loci controlling stature in other domestic animals and in humans. Most European domestic pigs are homozygous for the same haplotype at these three loci. We found an excess of derived nonsynonymous substitutions in domestic pigs, most likely reflecting both positive selection and relaxed purifying selection after domestication. Our analysis of structural variation revealed four duplications at the KIT locus that were exclusively present in white or white-spotted pigs, carrying the Dominant white, Patch, or Belt alleles. This discovery illustrates how structural changes have contributed to rapid phenotypic evolution in domestic animals and how alleles in domestic animals may evolve by the accumulation of multiple causative mutations as a response to strong directional selection.
U2 - 10.1073/pnas.1217149109
DO - 10.1073/pnas.1217149109
M3 - Journal article
C2 - 23151514
SN - 0027-8424
VL - 109
SP - 19529
EP - 19536
JO - Proceedings of the National Academy of Sciences USA (PNAS)
JF - Proceedings of the National Academy of Sciences USA (PNAS)
IS - 48
ER -