Sex-Biased Evolutionary Forces Shape Genomic Patterns of Human Diversity 英文参考文献.docVIP

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Sex-Biased Evolutionary Forces Shape Genomic Patterns of Human Diversity 英文参考文献.doc

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Sex-Biased Evolutionary Forces Shape Genomic Patterns of Human Diversity 英文参考文献

Sex-BiasedEvolutionaryForcesShapeGenomicPatterns ofHumanDiversity MichaelF.Hammer1,2*,FernandoL.Mendez2,MurrayP.Cox1,AugustE.Woerner1,JeffreyD.Wall3 1ARL Division of Biotechnology, University of Arizona, Tucson, Arizona, United States of America, 2Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, Arizona, United States of America, 3Institute for Human Genetics, University of California San Francisco, San Francisco, California, United States of America Abstract ComparisonsoflevelsofvariabilityontheautosomesandXchromosomecanbeusedtotesthypothesesaboutfactors influencing patterns of genomic variation. While a tremendous amount of nucleotide sequence data from across the genomeisnowavailableformultiplehumanpopulations,therehasbeennosystematicefforttoexaminerelativelevelsof neutral polymorphism on the X chromosome versus autosomes. We analyzed ,210kb of DNA sequencing data representing40independentnoncodingregionsontheautosomesandXchromosomefromeachof90humansfromsix geographicallydiversepopulations.Wecorrectfordifferencesinmutationratesbetweenmalesandfemalesbyconsidering the ratio of within-humandiversity to human-orangutan divergence. We find that relative levels of genetic variation are higherthanexpectedontheXchromosomeinallsixhumanpopulations.Wetestanumberofalternativehypothesesto explaintheexcesspolymorphismontheXchromosome,includingmodelsofbackgroundselection,changesinpopulation size,andsex-specificmigrationinastructuredpopulation.Whileeachoftheseprocessesmayhaveasmalleffectonthe relative ratio of X-linked to autosomal diversity, our results point to a systematic difference between the sexes in the variance in reproductive success; namely, the widespread effects of polygyny in human populations. We conclude that factors leading to a lower male versus female effective population size must be considered as important demographic variablesineffortstoconstructmodelsofhumandemographichistoryandforunderstandingtheforcesshapingpatternsof humang