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Fig. 1 | BMC Evolutionary Biology

Fig. 1

From: Variation in NAT2 acetylation phenotypes is associated with differences in food-producing subsistence modes and ecoregions in Africa

Fig. 1

Schematic diagram of the NAT2 locus on 8p22, including the non-coding 100 bp-long Exon 1, the 8.6 Kb-long intronic region, and the 870 bp-long single protein-coding Exon 2, adapted from [102] and [77]. The first (+1) and last positions (+873) of the open reading frame (ORF) of Exon 2 are indicated at the bottom of it, as well the relative positions of Exon 1 and of the polyadenylation signals. The positions of the 15 polymorphic sites (SNPs) observed among the 287 individuals from the six Sahelian samples sequenced in this study are shown as heavy-black (non-synonymous mutations) or light-gray (synonymous mutations) vertical bars below the diagram. Segments link the SNPs positions to the list of 21 haplotypes inferred from the combination of the 15 SNPs. Haplotypes’ associated acetylation activity (taken from the official NAT2 gene nomenclature, http://nat.mbg.duth.gr/) and average frequency among the six Sahelian samples are shown on the left and right sides of the list, respectively. A diagram displaying the position of the 30 SNPs observed in protein-coding Exon 2 among the 39 African population samples (1,192 individuals) analyzed in this study is shown in Additional file 3: Figure S2

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