Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104.
Center for Functional Anatomy and Evolution, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Proc Natl Acad Sci U S A. 2019 Oct 22;116(43):21484-21492. doi: 10.1073/pnas.1910606116. Epub 2019 Oct 8.
The relative contributions of genetics and environment to temporal and geographic variation in human height remain largely unknown. Ancient DNA has identified changes in genetic ancestry over time, but it is not clear whether those changes in ancestry are associated with changes in height. Here, we directly test whether changes over the past 38,000 y in European height predicted using DNA from 1,071 ancient individuals are consistent with changes observed in 1,159 skeletal remains from comparable populations. We show that the observed decrease in height between the Early Upper Paleolithic and the Mesolithic is qualitatively predicted by genetics. Similarly, both skeletal and genetic height remained constant between the Mesolithic and Neolithic and increased between the Neolithic and Bronze Age. Sitting height changes much less than standing height-consistent with genetic predictions-although genetics predicts a small post-Neolithic increase that is not observed in skeletal remains. Geographic variation in stature is also qualitatively consistent with genetic predictions, particularly with respect to latitude. Finally, we hypothesize that an observed decrease in genetic heel bone mineral density in the Neolithic reflects adaptation to the decreased mobility indicated by decreased femoral bending strength. This study provides a model for interpreting phenotypic changes predicted from ancient DNA and demonstrates how they can be combined with phenotypic measurements to understand the relative contribution of genetic and developmentally plastic responses to environmental change.
人类身高在时间和空间上的变化,其遗传和环境因素的相对贡献在很大程度上仍然未知。古 DNA 已经确定了遗传祖先随时间的变化,但尚不清楚这些祖先的变化是否与身高的变化有关。在这里,我们直接测试了使用来自 1071 个古代个体的 DNA 预测的过去 38000 年来欧洲身高的变化,是否与来自可比人群的 1159 具骨骼遗骸中的观察到的变化一致。我们表明,在古石器时代和中石器时代之间观察到的身高下降,在遗传上是可以预测的。同样,骨骼和遗传身高在中石器时代和新石器时代之间保持不变,在新石器时代和青铜时代之间增加。坐姿变化小于站姿——与遗传预测一致——尽管遗传预测了一个小的后新石器时代增加,但在骨骼遗骸中没有观察到。身高的地理差异与遗传预测也定性一致,特别是与纬度有关。最后,我们假设在新石器时代观察到的遗传跟骨矿物质密度下降反映了对股骨弯曲强度下降所表明的活动减少的适应。这项研究为解释来自古 DNA 的预测表型变化提供了一个模型,并展示了如何将它们与表型测量相结合,以了解遗传和发育可塑性对环境变化的相对贡献。