Fig. 4

Global frequency distribution of archaic alleles at the OAS gene cluster and differential expression for OAS3. The frequency of the archaic locus (orange) spanning the OAS gene cluster in present-day human populations from the 1000 Genomes phase III (light blue) and Simons Genome Diversity Project (dark blue) datasets are shown in the upper panel. The sizes of the pie charts are proportional to the number of individuals in each population. The lower panel shows the genotype-dependence of expression (log-transformed read counts) of OAS3 in pancreas (left) and fibroblasts (right). The expression distributions for both homozygote and the heterozygote states are shown as box plots and expression in each individual is plotted as a black square. The Spearman correlation coefficient and the corresponding P value for both tissues are shown above each graph. The introgressed Neandertal allele is the “A” (chr12:113366899)