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1、LETTERdoi:10.1038/nature12961ThegenomiclandscapeofNeanderthalancestryinpresent-dayhumans1,21,233331,2SriramSankararaman,SwapanMallick,MichaelDannemann,KayPru¨fer,JanetKelso,SvantePa¨a¨bo,NickPatterson1,2,4&DavidReichGenomicstudieshaveshownthatNeanderthalsinterbredwithmoderninferredNean
2、derthalhaplotypesthatspans1.1gigabases(Gb)over1,2humans,andthatnon-Africanstodayaretheproductsofthismixture.4,437contigs(SupplementaryInformationsection4),thusfillinginTheantiquityofNeanderthalgeneflowintomodernhumansmeansgapsintheNeanderthalsequenceoveranumberofrepetitiveregionsthatge
3、nomicregionsthatderivefromNeanderthalsinanyonehumanthatcannotbereconstructedfromshortancientDNAfragmentstodayareusuallylessthanahundredkilobasesinsize.However,Nean-(ExtendedDataFig.3).derthalhaplotypesarealsodistinctiveenoughthatseveralstudiesFourfeaturesoftheNeanderthalintrogressionma
4、psuggestthatitis1,3–8havebeenabletodetectNeanderthalancestryatspecificloci.producingreasonableresults.First,whenweinferNeanderthalances-1WesystematicallyinferNeanderthalhaplotypesinthegenomesoftryusinglow-coveragedatafromCroatianNeanderthalsweobtain9correlatedinferences(Spearmanrankcor
5、relationr50.88inEuropeans;1,004present-dayhumans.RegionsthatharbourahighfrequencyofNeanderthalallelesareenrichedforgenesaffectingkeratinfila-SupplementaryInformationsection3).Second,intheAfricanLuhyaments,suggestingthatNeanderthalallelesmayhavehelpedmoderninWebuye,Kenya(LWK),theproport
6、ionofthegenomeinferredtobehumanstoadapttonon-Africanenvironments.WeidentifymultipleNeanderthalis0.08%,anorderofmagnitudesmallerthaninnon-Neanderthal-derivedallelesthatconferriskfordisease,suggestingAfricanpopulations(Table1).Third,theproportionofthegenomethatNeanderthalallelescontinuet
7、oshapehumanbiology.Anunex-withconfidentlyinferredNeanderthalancestryhasameanof1.38%inpectedfindingisthatregionswithreducedNeanderthalancestryareeast-Asianand1.15%inEuropeanpopulations(Table1),consistentenrichedingenes,implyingselectiontoremovegeneticmaterialwithpreviousreportsofmoreN
