Selective Constraint on Copy Number Variation in Human Piwi-Interacting RNA Loci 英文参考文献.docVIP

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Selective Constraint on Copy Number Variation in Human Piwi-Interacting RNA Loci 英文参考文献.doc

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Selective Constraint on Copy Number Variation in Human Piwi-Interacting RNA Loci 英文参考文献

SelectiveConstraintonCopyNumberVariationin HumanPiwi-InteractingRNALoci DavidW.Gould,SergioLukic¤,KevinC.Chen* BioMaPSInstituteforQuantitativeBiologyandDepartmentofGenetics,Rutgers,TheStateUniversityofNewJersey,Piscataway,NewJersey,UnitedStatesofAmerica Abstract Piwi-interacting RNAs (piRNAs) are a recently discovered class of small non-coding RNA found in animals. PiRNAs are primarily expressed in the germline where their best understood function is to repress transposable elements. Unlike previousstudiesthatinvestigatedtheevolutionofpiRNA-generatinglociatthelevelofnucleotidesubstitutions,herewe studiedtheevolutionofpiRNA-generatinglociatthelevelofcopynumbervariation(i.e.duplicationsanddeletions)using genome-wide copy number variation data from three human populations. Our analysis shows that at the level of copy numbervariationthereisstrongselectiveconstraintandaveryhighmutationrateinhumanpiRNA-generatingloci.Our resultsdifferfromamodelofpositiveselectiononcopynumbervariationinpiRNA-generatinglocipreviouslyproposedin rodents.Wediscusspossiblereasonsforthisdifferencebasedonthetransposableelementinsertionhistoriesintherodent andprimatelineages. Citation: Gould DW, Lukic S, Chen KC (2012) Selective Constraint on Copy Number Variation in Human Piwi-Interacting RNA Loci. PLoS ONE 7(10): e46611. doi:10.1371/journal.pone.0046611 Editor:DaleJ.Hedges,UniversityofMiami,UnitedStatesofAmerica ReceivedApril18,2012;AcceptedSeptember6,2012;PublishedOctober4,2012 Copyright: ? 2012 Gould et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalauthorandsourcearecredited. Funding:ThisworkwasfundedbytheNationalInstitutesofHealth(R00HG004515toKC).Thefunderhadnoroleinstudydesign,datacollectionandanalysis, decisiontopublish,orpreparationofthemanuscript. CompetingInterests:Theauthorshavedeclaredthatnocompetinginterestsexist. *E-mail:kcchen@ ¤Curr