Fig. 3. Neanderthal introgression in 1q32.3 and facial variation in the CANDELA sample.

a At the top is shown the frequency of introgression tracts (i.e. stacking tracts across CANDELA individuals) overlaid onto the GWAS SNP P-values with ILD D223. The 100 kb segment displayed includes the GWAS and introgression peaks. Below are shown association P-values from an admixture mapping analysis of the Neanderthal introgression tracts with four ILDs (D166, D203, D223 and D117). Diamonds mark the center of an admixture mapping segment with whiskers marking its extent (details on these segments are in Supplementary Table 6). At the bottom are shown genes in the region. The dotted line beneath the genes displays craniofacial annotations from the Epigenomic and Transcriptomic Atlas of Human Craniofacial Development (colored in accordance with the Roadmap Epigenomics project https://egg2.wustl.edu/roadmap/web_portal/imputed.html#chr_imp; red/brown boxes representing craniofacial-specific super-enhancers). b, c ILDs tested in panel a: D166 (landmarks 13–19), D203 (landmarks 13–23), D223 (landmarks 13–25), and D117 (landmarks 12–18). In b the color scale indicates admixture mapping association P-value. In c color scale indicates direction and magnitude of the association. d Box plots for nasal height (NLH) in skulls from 1190 modern humans (from three continental populations) and 10 Neanderthals. Modern human data is from Howells’ database (http://web.utk.edu/~auerbach/HOWL.htreilm;⁹⁴ Supplementary Table 7). Neanderthal data is from Weaver and Stringer⁹⁵. P-value shown is from a Mann–Whitney U test contrasting modern human and Neanderthal data. e Example skulls from a modern human (Native American) and a Neanderthal (Amud 1). The 3D images are reproduced on the scale shown underneath. Nasal height (distance between the nasion and sub-spinale landmarks) is shown as a red line (modern human = 50.2 mm; Neanderthal = 63.8 mm). The modern human image is from the collection of the División de Antropología, Museo de La Plata (Argentina). The Neanderthal image was obtained from the MorphoSource repository (https://www.morphosource.org/concern/media/000005749).