CYP3A Variation and the Evolution of Salt-Sensitivity Variants E.E. Thompson, H. Kuttab-Boulos, D. Witonsky, L. Yang, B.A. Roe, A. Di Rienzo  The American Journal of Human Genetics  Volume 75, Issue 6, Pages 1059-1069 (December 2004) DOI: 10.1086/426406 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Inferred haplotypes at CYP3A4 and CYP3A5. Neither singleton sites nor multiallelic indels were included. The chimpanzee sequence was used to infer the ancestral allele at each site. The numbers on the right indicate the number of haplotypes in each population. The asterisk (*) indicates the position of CYP3A5*1/*3. Numbers below the gene names indicate the position of each polymorphic site relative to the reference sequence for each gene (GenBank accession numbers AC069294 and AC005020 for CYP3A4 and CYP3A5, respectively). The American Journal of Human Genetics 2004 75, 1059-1069DOI: (10.1086/426406) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Geographic distribution of the CYP3A5*3 and AGT Met235 allele frequencies. A, Plot of CYP3A5*3 and AGT Met235 allele frequencies and distance from the equator (measured in degrees of latitude). B, Plot of CYP3A5*3 versus AGT Met235 allele frequencies, by subpopulation. The American Journal of Human Genetics 2004 75, 1059-1069DOI: (10.1086/426406) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure A1 MultiPipMaker plots that illustrate cross-species conservation at CYP3A4 and CYP3A5. The vertical axis ranges between 50% and 100% sequence identity; areas within the plots shaded in light green and pink correspond to the exons of the CYP3A4 and CYP3A5 genes, respectively. Bars below the plots indicate the segments included in the resequencing survey; red bars indicate the sequence included only because of cross-species conservation, green bars indicate the sequence included because of both cross-species conservation and predicted cluster of transcription-factor-binding sites, and blue bars indicate sequences that contain regulatory elements based on prior functional evidence. Numbers on the horizontal axis indicate the position relative to the reference sequence for each gene (GenBank accession numbers AC069294 and AC005020 for CYP3A4 and CYP3A5, respectively). The American Journal of Human Genetics 2004 75, 1059-1069DOI: (10.1086/426406) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure A2 Decay of pairwise LD with distance, as measured by |D′| (blue symbols) and r2 (red symbols) across three human population samples. The blackened circles represent the average values of |D′| (blue) and r2 (red) in 10-kb windows. The American Journal of Human Genetics 2004 75, 1059-1069DOI: (10.1086/426406) Copyright © 2004 The American Society of Human Genetics Terms and Conditions