Regulatory changes are broadly accepted as key drivers of phenotypic divergence. However, identifying regulatory changes that underlie human-specific traits has proven very challenging. Here, we use 63 DNA methylation maps of ancient and present-day humans, as well as of six chimpanzees, to detect differentially methylated regions that emerged in modern humans after the split from Neanderthals and Denisovans. We show that genes affecting the face and vocal tract went through particularly extensive methylation changes. Specifically, we identify widespread hypermethylation in a network of face- and voice-affecting 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.

中文翻译：

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现代人通过广泛的调节差异影响人声和面部解剖的基因。

监管变化被广泛接受为表型差异的主要驱动力。然而，事实证明，识别出人类特质的基础法规变化非常具有挑战性。在这里，我们使用古代和现今人类以及六个黑猩猩的63个DNA甲基化图谱，来检测从尼安德特人和丹尼索瓦人分离后现代人中出现的差异甲基化区域。我们表明，影响面部和声道的基因经历了特别广泛的甲基化变化。具体来说，我们在影响面部和声音的基因（SOX9，ACAN，COL2A1，NFIX和XYLT1）。我们建议，这些压抑模式是在从尼安德特人和丹尼索瓦人分离之后出现的，它们可能在塑造现代人脸和声道中起了关键作用。