Laboratory of Cenetics, Evolutionary and Comparative Biology, Department of Biochemistry and Biotechnology, University of Thessaly, Larissa, Greece.
Immunogenetics. 2013 Mar;65(3):195-209. doi: 10.1007/s00251-012-0671-8. Epub 2012 Dec 14.
The Major Histocompatibility Complex (MHC) is a multigene family of outstanding polymorphism. MHC molecules bind antigenic peptides in the peptide-binding region (PBR) that consists of five binding pockets (P). In this study, we compared the genetic diversity of domestic pigs to that of the modern representatives of their wild ancestors, the wild boar, in two MHC loci, the oligomorphic DQA and the polymorphic DRB1. MHC nucleotide polymorphism was compared with the actual functional polymorphism in the PBR and the binding pockets P1, P4, P6, P7, and P9. The analysis of approximately 200 wild boars collected throughout Europe and 120 domestic pigs from four breeds (three pureblood, Pietrain, Leicoma, and Landrace, and one mixed Danbred) revealed that wild boars and domestic pigs share the same levels of nucleotide and amino acid polymorphism, allelic richness, and heterozygosity. Domestication did not appear to act as a bottleneck that would narrow MHC diversity. Although the pattern of polymorphism was uniform between the two loci, the magnitude of polymorphism was different. For both loci, most of the polymorphism was located in the PBR region and the presence of positive selection was supported by a statistically significant excess of nonsynonymous substitutions over synonymous substitutions in the PBR. P4 and P6 were the most polymorphic binding pockets. Functional polymorphism, i.e., the number and the distribution of pocket variants within and among populations, was significantly narrower than genetic polymorphism, indicative of a hierarchical action of selection pressures on MHC loci.
主要组织相容性复合体 (MHC) 是一个具有高度多态性的多基因家族。MHC 分子在由五个结合口袋 (P) 组成的肽结合区域 (PBR) 中结合抗原肽。在这项研究中,我们比较了家猪与它们野生祖先野猪的两个 MHC 基因座,即多态性 DQA 和多态性 DRB1 的遗传多样性。MHC 核苷酸多态性与 PBR 以及结合口袋 P1、P4、P6、P7 和 P9 的实际功能多态性进行了比较。对来自欧洲各地的约 200 头野猪和来自四个品种(三个纯种,皮特兰、利科马和长白,以及一个混合丹布德)的 120 头家猪的分析表明,野猪和家猪共享相同水平的核苷酸和氨基酸多态性、等位基因丰富度和杂合度。驯化似乎没有起到缩小 MHC 多样性的瓶颈作用。尽管两个基因座的多态性模式一致,但多态性的程度不同。对于两个基因座,大多数多态性都位于 PBR 区域,并且在 PBR 中同义替换与非同义替换的比例显著超过统计显著性,支持了正选择的存在。P4 和 P6 是最具多态性的结合口袋。功能多态性,即口袋变体在种群内和种群间的数量和分布,明显比遗传多态性窄,表明选择压力对 MHC 基因座的分层作用。