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A Worldwide Phylogeography for the Human X Chromosome 英文参考文献
AWorldwidePhylogeographyfortheHumanX
Chromosome
SimoneS.Santos-Lopes1,RinaldoW.Pereira1,2,IanJ.Wilson3,Se′rgioD.J.Pena1*
1Departamento de Bioqu?′mica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil, 2Programa de Po′s
Graduac?a?o em Cie?ncias Geno?micas e Biotecnologia, Catholic University of Bras?′lia (UCB), Bras?′lia, Brazil, 3Institute of Human Genetics, Newcastle
University,Newcastle,UnitedKingdom
Background.WereasonedthatbyidentifyinggeneticmarkersonhumanXchromosomeregionswhererecombinationisrare
or absent, we should be able to construct X chromosome genealogies analogous to those based on Y chromosome and
mitochondrialDNApolymorphisms,withtheadvantageofprovidinginformationaboutbothmaleandfemalecomponentsof
thepopulation.Methodology/PrincipalFindings.Weidentifieda47KbintervalcontaininganAluinsertionpolymorphism
(DXS225)andfourmicrosatellitesincompletelinkagedisequilibriuminalowrecombinationrateregionofthelongarmofthe
humanXchromosome.Thishaplotypeblockwasstudiedin667malesfromtheHGDP-CEPHHumanGenomeDiversityPanel.
ThehaplotypicdiversitywashighestinAfrica(0.99260.0025)andlowestintheAmericas(0.83960.0378),wherenoinsertion
allelesofDXS225wereobserved.Africasharedfewhaplotypeswithothergeographicalareas,whilethoseexhibitedsignificant
sharing among themselves. Median joining networks revealed that the African haplotypes were numerous, occupied the
periphery of the graph and had low frequency, whereas those from the other continents were few, central and had high
frequency.Altogether,ourdatasupportasingleoriginofmodernmaninAfricaandmigrationtooccupytheothercontinents
by serial founder effects. Coalescent analysis permitted estimation of the time of the most recent common ancestor as
182,000years(56,700–479,000)andtheestimatedtimeoftheDXS225Aluinsertionof94,400years(24,300–310,000).These
datesarefullycompatiblewiththecurrentwidelyacceptedscenariooftheoriginofmodernmankindinAfricawithinthelast
195,000years and migration out-of-Af
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