The 88th Annual Meeting of the American Association of Physical Anthropologists (2019)

Recent regulatory changes shaped human vocal and facial anatomy


1Section of Genetic Medicine, University of Chicago, 2Department of Genetics, The Hebrew University of Jerusalem

March 30, 2019 2:45, CC Ballroom A Add to calendar

Changes in gene regulation are broadly accepted as key drivers of phenotypic differences between closely related species. However, it is largely unknown what regulatory changes occurred during our recent evolution and which of these modifications have shaped human-specific traits. By harnessing the natural degradation processes of methylated and unmethylated cytosines in ancient DNA, we developed a method to reconstruct full DNA methylation maps from ancient individuals. Further, we have assayed methylation patterns in skeletal tissues from several extant nonhuman primate species to determine variation present across the larger primate phylogeny. Here, we use >60 DNA methylation maps of ancient and present-day human groups, as well as six chimpanzee maps, to detect regulatory changes that emerged in modern humans after the split from Neanderthals and Denisovans. We found ~800 differentially methylated regions that emerged along our lineage after the split from archaic humans. We show that genes affecting vocalization and facial features went through particularly extensive methylation changes. Specifically, we identify silencing patterns in a network of genes (SOX9, ACAN, COL2A1 and NFIX), and show that the knockout of NFIX in mice results in vocal tract alterations that mimic the modern human configuration which is optimal for speech. Our results provide insights into the molecular mechanisms that may have shaped the modern human face and voice and suggest that they arose after the split from Neanderthals and Denisovans.

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