Drosophila Duplication Hotspots Are Associated with Late-Replicating Regions of the Genome 英文参考文献.docVIP
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Drosophila Duplication Hotspots Are Associated with Late-Replicating Regions of the Genome 英文参考文献
DrosophilaDuplicationHotspotsAreAssociatedwith
Late-ReplicatingRegionsoftheGenome
MargaridaCardoso-Moreira1*,J.J.Emerson2,AndrewG.Clark1,ManyuanLong3
1Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York, United States of America, 2Department of Integrative Biology, University of
CaliforniaBerkeley,Berkeley,California,UnitedStatesofAmerica,3DepartmentofEcologyandEvolution,UniversityofChicago,Chicago,Illinois,UnitedStatesofAmerica
Abstract
Duplicationsplayasignificantroleinbothextremesofthephenotypicspectrumofnewlyarisingmutations:theycanhave
severe deleterious effects (e.g. duplications underlie a variety of diseases) but can also be highly advantageous. The
phenotypic potential of newly arisen duplications has stimulated wide interest in both the mutational and selective
processes shaping these variants in the genome. Here we take advantage of the Drosophila simulans–Drosophila
melanogastergeneticsystemtofurtherourunderstandingofbothprocesses.Regardingmutationalprocesses,thestudyof
twocloselyrelatedspeciesallowsinvestigationofthepotentialexistenceofsharedduplicationhotspots,andthesimilarities
anddifferencesbetweenthetwogenomescanbeusedtodissectitsunderlyingcauses.Regardingselection,thedifference
intheeffectivepopulationsizebetweenthetwospeciescanbeleveragedtoaskquestionsaboutthestrengthofselection
actingondifferentclassesofduplications.Inthisstudy,weconductedasurveyofduplicationpolymorphismsin14different
linesofD.simulansusingtilingmicroarraysandcombineditwithananalogoussurveyfortheD.melanogastergenome.By
integratingthetwodatasets,weidentifiedduplicationhotspotsconservedbetweenthetwospecies.However,unlikethe
duplicationhotspotsidentifiedinmammaliangenomes,Drosophiladuplicationhotspotsarenotassociatedwithsequences
of high sequence identity capable of mediating non-allelic homologous recombination. Instead, Drosophila duplication
hotspots are associated with late-replicating regions of the genome, suggesting a link between DNA replica
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