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Fig. 4 | Genome Biology

Fig. 4

From: Adaptively introgressed Neandertal haplotype at the OAS locus functionally impacts innate immune responses in humans

Fig. 4

Pervasive impact of the Neandertal haplotype on the regulation of OAS genes in primary macrophages. a –log 10 Ps (y-axis) for the association between genotypes for SNPs with a MAF > 10% in the OAS region and expression levels of OAS3 in non-infected (black) and Salmonella-infected macrophages (orange). The dashed line shows the P cutoff corresponding to an FDR of 10%. The right panel shows a boxplot for the association between genotypes at the NLS rs4767031 (x-axis) and the expression levels of OAS3 in TPM (transcripts per kilobase million) (y-axis). The lower expression level of OAS3 in individuals harboring the Neandertal haplotype were confirmed by real-time polymerase chain reaction (Additional file 1: Figure S11). b –log 10 Ps (y-axis) for the association between genotypes in the OAS regions and the percentage usage of isoform ENST00000202917 (i.e. p46 in the text) in non-infected (black) and Salmonella-infected macrophages (orange). The dashed line shows the P cutoff corresponding to an FDR of 1%. The right panel shows a boxplot for the association between genotypes at the splicing variant rs10774671 (x-axis) and the percentage usage of isoform p46 (y-axis). c Similar to (b) but for the percentage usage of isoform ENST00000449768 of OAS2. In all the panels NLS are highlighted by blue dots. The arrows on (a)–(c) highlight the location of the SNPs for which the boxplots are shown on the right

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