Fig. 4: Hypermethylation of SOX9, ACAN, and COL2A1 in AMHs.
From: Differential DNA methylation of vocal and facial anatomy genes in modern humans
a Methylation levels in the AMH-derived DMRs in SOX9, ACAN, and COL2A1. AMH samples are marked with red lines, archaic human samples are marked with blue lines and chimpanzee samples are marked with gray lines. The distribution of methylation across 52 AMH samples (450K methylation arrays) is presented in red. b SOX9 and its upstream regulatory elements. AMH-derived DMRs are marked with red rectangles. Previously identified putative enhancers are marked with circles: human craniofacial (orange), human craniofacial, chimpanzee-biased (blue), human skeletal (yellow), human non-skeletal (dark gray), and mouse (light gray). Numbers above skeletal enhancers show the difference in mean bone methylation between AMHs and archaic humans (top) and between AMHs and chimpanzee (bottom). Across almost all SOX9 enhancers, AMHs are hypermethylated compared to archaic humans and the chimpanzee.
