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Inferring population history and demography using microsatellites, mitochondrial DNA, and major histocompatibility complex (MHC) genes

机译:使用微卫星,线粒体DNA和主要组织相容性复合体(MHC)基因推断人口历史和人口统计学

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Microsatellites and mitochondrial DNA (mtDNA) have traditionally been used in population genetics because of their variability and presumed neutrality, whereas genes of the major histocompatibility complex (MHC) are increasingly of interest because strong selective pressures shape their standing variation. Despite the potential for MHC genes, microsatellites, and mtDNA sequences to complement one another in deciphering population history and demography, the three are rarely used in tandem. Here we report on MHC, microsatellite, and mtDNA variability in a single large population of the eastern tiger salamander (Ambystoma tigrinum tigrinum). We use the mtDNA mismatch distribution and, on microsatellite data, the imbalance index and bottleneck tests to infer aspects of population history and demography. Haplotype and allelic variation was high at all loci surveyed, and heterozygosity was high at the nuclear loci. We find concordance among neutral molecular markers that suggests our study population originated from post-Pleistocene expansions of multiple, fragmented sources that shared few migrants. Differences in N-e estimates derived from haploid and diploid genetic markers are potentially attributable to secondary contact among source populations that experienced rapid mtDNA divergence and comparatively low levels of nuclear DNA divergence. We find strong evidence of natural selection acting on MHC genes and estimate long-term effective population sizes (N-e) that are very large, making small selection intensities significant evolutionary forces in this population.
机译:由于微卫星和线粒体DNA(mtDNA)的可变性和假定的中性性,传统上已将其用于群体遗传学,而主要的组织相容性复合体(MHC)的基因却越来越受到关注,因为强大的选择压力会影响它们的站立变异。尽管MHC基因,微卫星和mtDNA序列在解读种群历史和人口统计学方面具有互补性的潜力,但三者很少串联使用。在这里,我们报告了东部虎sal(Ambystoma tigrinum tigrinum)的单个大种群中的MHC,微卫星和mtDNA变异性。我们使用mtDNA错配分布,并在微卫星数据上使用失衡指数和瓶颈测试来推断人口历史和人口统计学的各个方面。在所有调查的基因座中单倍型和等位基因变异较高,在核基因座处杂合度较高。我们发现中性分子标记之间存在一致性,这表明我们的研究人群起源于更新世后的扩张,这些扩张的零散来源共享很少的移民。来自单倍体和二倍体遗传标记的N-e估计值的差异可能归因于经历快速mtDNA差异和相对较低水平的核DNA差异的源种群之间的二次接触。我们发现自然选择作用于MHC基因的有力证据,并估计了很大的长期有效种群规模(N-e),使得小的选择强度成为该种群的重要进化力。

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