Genetic Variation and Recent Positive Selection in Worldwide Human Populations Evidence from Nearly 1 Million SNPs 英文参考文献.docVIP

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Genetic Variation and Recent Positive Selection in Worldwide Human Populations Evidence from Nearly 1 Million SNPs 英文参考文献.doc

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Genetic Variation and Recent Positive Selection in Worldwide Human Populations Evidence from Nearly 1 Million SNPs 英文参考文献

GeneticVariationandRecentPositiveSelectionin WorldwideHumanPopulations:EvidencefromNearly1 MillionSNPs DavidLo′pezHerra′ez1.,MarcBauchet1.,KunTang1,2.,ChristophTheunert1,IrinaPugach1,JingLi3, MadhusudanR.Nandineni1,4,ArndGross5,MarkusScholz5,MarkStoneking1* 1Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany, 2Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese AcademyofSciences,Shanghai,China,3NationalDrugScreeningLaboratory,ChinaPharmaceuticalUniversity,NanjingCity,China,4LaboratoryofDNAFingerprinting, CentreforDNAFingerprintingandDiagnostics,Nampally,Hyderabad,India,5InstituteforMedicalInformatics,StatisticsandEpidemiology,UniversityofLeipzig,Leipzig, Germany Abstract Background:Genome-widescansofhundredsofthousandsofsingle-nucleotidepolymorphisms(SNPs)haveresultedinthe identificationofnewsusceptibilityvariantstocommondiseasesandareprovidingnewinsightsintothegeneticstructure andrelationshipsofhumanpopulations.Moreover,genome-widedatacanbeusedtosearchforsignalsofrecentpositive selection, thereby providing new insights into the genetic adaptations that occurred as modern humans spread out of Africaandaroundtheworld. Methodology: We genotyped approximately 500,000 SNPs in 255 individuals (5 individuals from each of 51 worldwide populations) from the Human Genome Diversity Panel (HGDP-CEPH). When merged with non-overlapping SNPs typed previouslyin250ofthesesameindividuals,theresultingdataconsistofover950,000SNPs.Wethenanalyzedthegenetic relationshipsandancestryofindividualswithoutassigningthemtopopulations,andwealsoidentifiedcandidateregionsof recentpositiveselectionatboththepopulationandregional(continental)level. Conclusions: Our analyses both confirm and extend previous studies; in particular, we highlight the impact of various dispersals, and therole of substructure in Africa, on human genetic diversity. We also identified several novel candidate regionsforrecentpositiveselection,andageneontology(GO)analys