Dearborn Donald C, Gager Andrea B, Gilmour Morgan E, McArthur Andrew G, Hinerfeld Douglas A, Mauck Robert A
Department of Biology, Bates College, 44 Campus Ave, Lewiston, ME, USA,
Immunogenetics. 2015 Feb;67(2):111-23. doi: 10.1007/s00251-014-0813-2. Epub 2014 Nov 23.
The major histocompatibility complex (Mhc) is subject to pathogen-mediated balancing selection and can link natural selection with mate choice. We characterized two Mhc class II B loci in Leach's storm-petrel, Oceanodroma leucorhoa, focusing on exon 2 which encodes the portion of the protein that binds pathogen peptides. We amplified and sequenced exon 2 with locus-specific nested PCR and Illumina MiSeq using individually barcoded primers. Repeat genotyping of 78 single-locus genotypes produced identical results in 77 cases (98.7%). Sequencing of messenger RNA (mRNA) from three birds confirmed expression of both loci, consistent with the observed absence of stop codons or frameshifts in all alleles. In 48 birds, we found 9 and 12 alleles at the two loci, respectively, and all 21 alleles translated to unique amino acid sequences. Unlike many studies of duplicated Mhc genes, alleles of the two loci clustered into monophyletic groups. Consistent with this phylogenetic result, interlocus gene conversion appears to have affected only two short fragments of the exon. As predicted under a paradigm of pathogen-mediated selection, comparison of synonymous and non-synonymous substitution rates found evidence of a history of positive selection at putative peptide binding sites. Overall, the results suggest that the gene duplication event leading to these two loci is not recent and that point mutations and positive selection on the peptide binding sites may be the predominant forces acting on these genes. Characterization of these loci sets the stage for population-level work on the evolutionary ecology of Mhc in this species.
主要组织相容性复合体(Mhc)受到病原体介导的平衡选择,并且能够将自然选择与配偶选择联系起来。我们对利奇氏风暴海燕(Oceanodroma leucorhoa)的两个Mhc II类B基因座进行了特征分析,重点关注编码与病原体肽结合的蛋白质部分的第2外显子。我们使用单独带条形码的引物,通过基因座特异性巢式PCR和Illumina MiSeq对第2外显子进行扩增和测序。对78个单基因座基因型进行重复基因分型,77例(98.7%)结果相同。对三只鸟的信使RNA(mRNA)进行测序,证实了两个基因座均有表达,这与在所有等位基因中均未观察到终止密码子或移码的情况一致。在48只鸟中,我们在两个基因座上分别发现了9个和12个等位基因,所有21个等位基因都翻译成了独特的氨基酸序列。与许多对重复Mhc基因的研究不同,这两个基因座的等位基因聚集成单系群。与这一系统发育结果一致,基因座间的基因转换似乎仅影响了第2外显子的两个短片段。正如在病原体介导的选择范式下所预测的那样,同义替换率和非同义替换率的比较发现了在假定的肽结合位点存在正选择历史的证据。总体而言,结果表明导致这两个基因座的基因复制事件并非近期发生,并且肽结合位点上的点突变和正选择可能是作用于这些基因的主要力量。对这些基因座的特征分析为该物种Mhc进化生态学的种群水平研究奠定了基础。