Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture 英文参考文献.docVIP
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Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture 英文参考文献
PopulationBottlenecks
asaPotentialMajorShapingForce
ofHumanGenomeArchitecture
Adrian Gherman1[,Peter E.Chen1[,Tanya M.Teslovich1,Pawel Stankiewicz2,Marjorie Withers2,Carl S.Kashuk1,
Aravinda Chakravarti1,James R.Lupski2,3,4,David J.Cutler1*,Nicholas Katsanis1,5*
1McKusick-NathansInstituteofGeneticMedicine,JohnsHopkinsUniversity,Baltimore,Maryland,UnitedStatesofAmerica,2DepartmentofMolecularandHumanGenetics,
BaylorCollegeofMedicine,Houston,Texas,UnitedStatesofAmerica,3DepartmentofPediatrics,BaylorCollegeofMedicine,Houston,Texas,UnitedStatesofAmerica,
4TexasChildren’sHospital,Houston,Texas,UnitedStatesofAmerica,5WilmerEyeInstitute,JohnsHopkinsUniversity,Baltimore,Maryland,UnitedStatesofAmerica
Themodernsyntheticviewofhumanevolutionproposesthatthefixationofnovelmutationsisdrivenbythebalance
amongselectiveadvantage,selectivedisadvantage,andgeneticdrift.Whenconsideringtheglobalarchitectureofthe
humangenome,thesamemodelcanbeappliedtounderstandingtherapidacquisitionandproliferationofexogenous
DNA.Toexploretheevolutionaryforcesthatmighthavemorphedhumangenomearchitecture,weinvestigatedthe
origin, composition, and functional potential of numts (nuclear mitochondrial pseudogenes), partial copies of the
mitochondrialgenomefoundabundantlyinchromosomalDNA.Ourdataindicatethattheseelementsareunlikelyto
beadvantageous,sincetheypossessnogrosspositional,transcriptional,ortranslationalfeaturesthatmightindicate
beneficialfunctionalitysubsequenttointegration.Usingsequenceanalysisandfossildating,wealsoshowaprobable
burstofintegrationofnumtsintheprimatelineagethatcentersontheprosimian–anthropoidsplit,mimicscloselythe
temporaldistributionofAluandprocessedpseudogeneacquisition,andcoincideswiththemajorclimaticchangeat
thePaleocene–Eoceneboundary.Wethereforeproposeamodelaccordingtowhichthegrossarchitectureandrepeat
distribution ofthehumangenomecanbelargelyaccountedfor byapopulationbottleneckearlyintheanthropoid
lineage and subsequent effectively neutral fixation of repetitive DNA, r
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