The Genom of Homo sapiens.pdf

STRATIFICATION OF LINKAGE DISEQUILIBRIUM 87Figure 2. Relative positions of 39 worldwide populations in relation to the English for haplotype composition (measured as an Fst geneticdistance) and for LD pattern (measured by the correlation coefficient between each population and the English of the LD measurefor twelve neighboring markers). See text for details.ACKNOWLEDGMENTSWe thank Michelle Gardner for careful revision of themanuscript and Oscar Lao for his help with the analysisand figures. We also thank Aida Andrés and Tomàs Marquèsfor their helpful comments and assistance. Thisstudy was supported by the European Commission projectQLG2-CT-2001-00916, by the Dirección General deInvestigación (Spanish Government) grant BMC2001-0772, and Grup de Recerca Consolidat SGR2001-00285from Generalitat de Catalunya.REFERENCESArnheim N., Calabrese P., and Nordborg M. 2003. Hot and coldspots of recombination in the human genome: The reason weshould find them and how this can be achieved. Am. J. Hum.Genet. 73: 5.Bertranpetit J. and Calafell F. 2001. Genome versus populationunderstanding in human population studies. In Genes, fossilsand behaviour (ed. P. Donnelly and R.A. Foley), p. 49. IOSPress, Amsterdam, The Netherlands._______ . 2003. Genome views on human evolution. In Evolution:From molecules to ecosystems (ed. A. Moya and E. Font), p.260. Oxford University Press, Oxford, United Kingdom.Cann H.M., de Toma C., Cazes L., Legrand M.F., Morel V., PiouffreL., Bodmer J., Bodmer W.F., Bonne-Tamir B., Cambon-ThomsenA., Chen Z., Chu J., Carcassi C., Contu L., DuR., Excoffier L., Ferrara G.B., Friedlaender J.S., Groot H.,Gurwitz D., Jenkins T., Herrera R.J., Huang X., Kidd J., andKidd K.K., et al. 2002. A human genome diversity cell linepanel. Science 296: 261.Daly M.J., Rioux J.D., Schaffner S.F., Hudson T.J., and LanderE.S. 2001. High-resolution haplotype structure in the humangenome. Nat. Genet. 29: 229.Dawson E., Abecasis G.R., Bumpstead S., Chen Y., Hunt S.,Beare D.M., Pabial J., Dibling T., Tinsley E., Kirby S., CarterD., Papaspyridonos M., Livingstone S., Ganske R., LohmussaarE., Zernant J., Tonisson N., Remm M., Magi R., PuurandT., Vilo J., Kurg A., Rice K., Deloukas P., Mott R., MetspaluA., Bentley D.R., Cardon L.R., and Dunham I. 2002. A firstgenerationlinkage disequilibrium map of human chromosome22. Nature 418: 544.DeMille M.M., Kidd J.R., Ruggeri V., Palmatier M.A., GoldmanD., Odunsi A., Okonofua F., Grigorenko E., Schulz L.O.,Bonne-Tamir B., Lu R.B., Parnas J., Pakstis A.J., and KiddK.K. 2002. Population variation in linkage disequilibriumacross the COMT gene considering promoter region and codingregion variation. Hum. Genet. 111: 521.Ding Y.C., Chi H.C., Grady D.L., Morishima A., Kidd J.R.,Kidd K.K., Flodman P., Spence M.A., Schuck S., SwansonJ.M., Zhang Y.P., and Moyzis R.K. 2002. Evidence of positiveselection acting at the human dopamine receptor D4 genelocus. Proc. Natl. Acad. Sci. 99: 309.Fullerton S.M., Bartoszewicz A., Ybazeta G., Horikawa Y., BellG.I., Kidd K.K., Cox N.J., Hudson R.R., and Di Rienzo A.2002. Geographic and haplotype structure of candidate type 2diabetes susceptibility variants at the calpain-10 locus. Am. J.Hum. Genet. 70: 1096.Gabriel S.B., Schaffner S.F., Nguyen H., Moore J.M., Roy J.,Blumenstiel B., Higgins J., DeFelice M., Lochner A., FaggartM., Liu-Cordero S.N., Rotimi C., Adeyemo A., Cooper R.,Ward R., Lander E.S., Daly M.J., and Altshuler D. 2002. Thestructure of haplotype blocks in the human genome. Science296: 2225.Gelernter J., Cubells J.F., Kidd J.R., Pakstis A.J., and Kidd K.K.