FIGURE 3. Population differences in the frequency of non-synonymous haplotypes within the ACOT11 gene—a cold-induced thioesterase expressed in brown adipose tissue and associated with obesity in mice.
From the following article:
The DNA sequence and biological annotation of human chromosome 1
S. G. Gregory, K. F. Barlow, K. E. McLay, R. Kaul, D. Swarbreck, A. Dunham, C. E. Scott, K. L. Howe, K. Woodfine, C. C. A. Spencer, M. C. Jones, C. Gillson, S. Searle, Y. Zhou, F. Kokocinski, L. McDonald, R. Evans, K. Phillips, A. Atkinson, R. Cooper, C. Jones, R. E. Hall, T. D. Andrews, C. Lloyd, R. Ainscough, J. P. Almeida, K. D. Ambrose, F. Anderson, R. W. Andrew, R. I. S. Ashwell, K. Aubin, A. K. Babbage, C. L. Bagguley, J. Bailey, H. Beasley, G. Bethel, C. P. Bird, S. Bray-Allen, J. Y. Brown, A. J. Brown, D. Buckley, J. Burton, J. Bye, C. Carder, J. C. Chapman, S. Y. Clark, G. Clarke, C. Clee, V. Cobley, R. E. Collier, N. Corby, G. J. Coville, J. Davies, R. Deadman, M. Dunn, M. Earthrowl, A. G. Ellington, H. Errington, A. Frankish, J. Frankland, L. French, P. Garner, J. Garnett, L. Gay, M. R. J. Ghori, R. Gibson, L. M. Gilby, W. Gillett, R. J. Glithero, D. V. Grafham, C. Griffiths, S. Griffiths-Jones, R. Grocock, S. Hammond, E. S. I. Harrison, E. Hart, E. Haugen, P. D. Heath, S. Holmes, K. Holt, P. J. Howden, A. R. Hunt, S. E. Hunt, G. Hunter, J. Isherwood, R. James, C. Johnson, D. Johnson, A. Joy, M. Kay, J. K. Kershaw, M. Kibukawa, A. M. Kimberley, A. King, A. J. Knights, H. Lad, G. Laird, S. Lawlor, D. A. Leongamornlert, D. M. Lloyd, J. Loveland, J. Lovell, M. J. Lush, R. Lyne, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, N. S. W. Matthews, S. McLaren, S. Milne, S. Mistry, M. J. F. M oore, T. Nickerson, C. N. O'Dell, K. Oliver, A. Palmeiri, S. A. Palmer, A. Parker, D. Patel, A. V. Pearce, A. I. Peck, S. Pelan, K. Phelps, B. J. Phillimore, R. Plumb, J. Rajan, C. Raymond, G. Rouse, C. Saenphimmachak, H. K. Sehra, E. Sheridan, R. Shownkeen, S. Sims, C. D. Skuce, M. Smith, C. Steward, S. Subramanian, N. Sycamore, A. Tracey, A. Tromans, Z. Van Helmond, M. Wall, J. M. Wallis, S. White, S. L. Whitehead, J. E. Wilkinson, D. L. Willey, H. Williams, L. Wilming, P. W. Wray, Z. Wu, A. Coulson, M. Vaudin, J. E. Sulston, R. Durbin, T. Hubbard, R. Wooster, I. Dunham, N. P. Carter, G. McVean, M. T. Ross, J. Harrow, M. V. Olson, S. Beck, J. Rogers & D. R. Bentley
Nature 441, 315-321(18 May 2006)
doi:10.1038/nature04727
a, Structure of the ACOT11 gene, with exons indicated by vertical bars numbered 1–17. Three non-synonymous SNPs, rs2304306, rs1702003 and rs2304305 (red, green and blue arrowheads, respectively), which represent the mutations Pro165Leu, Asp202Gly and Met212Ile, respectively (where the direction of the mutation has been inferred by comparison with the chimpanzee sequences), have been typed across the four HapMap populations. b, Different non-synonymous haplotypes in the ACOT11 gene are shown on the left. Light or dark coloured shading of the boxes containing the amino acids indicate the ancestral or derived mutations at the three sites, respectively. The frequency of each haplotype in each population is shown on the right, colour-coded by population: YRI, green; JPT + CHB, purple; CEU, orange (see the text for population definitions). Note that the population of European origin almost exclusively carries a haplotype with the Asp202Gly mutation—a mutation that is nearly absent from the other populations. In contrast to the situation for most genes, the two Asian populations show the greatest diversity (here grouped together as they have very similar haplotype frequencies), with the African population almost exclusively carrying the ancestral haplotype. These patterns indicate strongly varying selection pressures across the three populations; one possible interpretation being the presence of strong purifying selection in Africa, reduced selection pressures in Asia, and a recent selective sweep in Europe.
