Deutsche Forschungsgemeinschaft Center for Advanced Studies "Words, Bones, Genes, Tools," University of Tübingen, 72070 Tübingen, Germany
Deutsche Forschungsgemeinschaft Center for Advanced Studies "Words, Bones, Genes, Tools," University of Tübingen, 72070 Tübingen, Germany.
Proc Natl Acad Sci U S A. 2020 May 19;117(20):10769-10777. doi: 10.1073/pnas.1914330117. Epub 2020 May 6.
Researchers commonly rely on human dental morphological features in order to reconstruct genetic affinities among past individuals and populations, particularly since teeth are often the best preserved part of a human skeleton. Tooth form is considered to be highly heritable and selectively neutral and, therefore, to be an excellent proxy for DNA when none is available. However, until today, it remains poorly understood whether certain dental traits or trait combinations preserve neutral genomic signatures to a greater degree than others. Here, we address this long-standing research gap by systematically testing the utility of 27 common dental traits and >134 million possible trait combinations in reflecting neutral genomic variation in a worldwide sample of modern human populations. Our analyses reveal that not all traits are equally well-suited for reconstructing population affinities. Whereas some traits largely reflect neutral variation and therefore evolved primarily as a result of genetic drift, others can be linked to nonstochastic processes such as natural selection or hominin admixture. We also demonstrate that reconstructions of population affinity based on many traits are not necessarily more reliable than those based on only a few traits. Importantly, we find a set of highly diagnostic trait combinations that preserve neutral genetic signals best (up to [Formula: see text] = 0.580; 95% range = 0.293 to 0.758; = 0.001). We propose that these trait combinations should be prioritized in future research, as they allow for more accurate inferences about past human population dynamics when using dental morphology as a proxy for DNA.
研究人员通常依赖人类牙齿的形态特征,以便重建过去个体和人群之间的遗传亲缘关系,尤其是因为牙齿通常是人类骨骼中保存最好的部分。牙齿形态被认为具有高度遗传性和选择性中性,因此在没有 DNA 时,可以作为 DNA 的良好替代物。然而,直到今天,人们仍然不清楚某些牙齿特征或特征组合是否比其他特征更能保留中性基因组特征。在这里,我们通过系统地测试 27 种常见牙齿特征和超过 13400 万种可能的特征组合在反映现代人类群体全球样本中性基因组变异方面的效用,来解决这个长期存在的研究空白。我们的分析表明,并非所有特征都同样适合重建种群亲缘关系。虽然有些特征主要反映中性变异,因此主要是由于遗传漂变而进化的,但其他特征可能与非随机过程(如自然选择或人类混合)有关。我们还证明,基于许多特征的种群亲缘关系重建不一定比基于少数特征的重建更可靠。重要的是,我们发现了一组高度诊断性的特征组合,它们可以最好地保留中性遗传信号(高达 [公式:见文本] = 0.580;95%范围 = 0.293 至 0.758; = 0.001)。我们建议在未来的研究中优先考虑这些特征组合,因为当使用牙齿形态作为 DNA 的替代物时,它们可以更准确地推断过去人类种群动态。