Department of Genetics, The Alexander Silberman Institute of Life Sciences, Faculty of Science, The Hebrew University of Jerusalem, 91904, Jerusalem, Israel.
Department of Statistics, The Hebrew University of Jerusalem, 91905, Jerusalem, Israel.
Nat Commun. 2020 Mar 4;11(1):1189. doi: 10.1038/s41467-020-15020-6.
Changes in potential regulatory elements are thought to be key drivers of phenotypic divergence. However, identifying changes to regulatory elements that underlie human-specific traits has proven very challenging. Here, we use 63 reconstructed and experimentally measured DNA methylation maps of ancient and present-day humans, as well as of six chimpanzees, to detect differentially methylated regions that likely emerged in modern humans after the split from Neanderthals and Denisovans. We show that genes associated with face and vocal tract anatomy went through particularly extensive methylation changes. Specifically, we identify widespread hypermethylation in a network of face- and voice-associated genes (SOX9, ACAN, COL2A1, NFIX and XYLT1). We propose that these repression patterns appeared after the split from Neanderthals and Denisovans, and that they might have played a key role in shaping the modern human face and vocal tract.
人们认为，潜在调控元件的改变是表型分化的关键驱动因素。然而，要识别导致人类特有性状的调控元件的改变一直极具挑战性。在这里，我们利用 63 张重建的和经过实验测量的古代和现代人类以及 6 只黑猩猩的 DNA 甲基化图谱，来检测在现代人从尼安德特人和丹尼索瓦人分化出来之后可能出现的差异甲基化区域。我们表明，与面部和声道解剖结构相关的基因经历了特别广泛的甲基化变化。具体来说，我们在一个与面部和声音相关的基因网络（SOX9、ACAN、COL2A1、NFIX 和 XYLT1）中发现了广泛的过度甲基化。我们提出，这些抑制模式出现在与尼安德特人和丹尼索瓦人分化之后，它们可能在塑造现代人类的面部和声道方面发挥了关键作用。
