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Genetic Basis for Dosage Sensitivity in Arabidopsis thaliana 英文参考文献
GeneticBasisforDosageSensitivity
inArabidopsisthaliana
Isabelle M.Henry¤a,Brian P.Dilkes¤b,Luca Comai¤b*
DepartmentofBiology,UniversityofWashington,Seattle,Washington,UnitedStatesofAmerica
Aneuploidy,therelativeexcessordeficiencyofspecificchromosometypes,resultsingenedosageimbalance.Plants
canproduceviableandfertileaneuploidindividuals,whilemostanimalaneuploidsareinviableordevelopmentally
abnormal. The swarms of aneuploid progeny produced by Arabidopsis triploids constitute an excellent model to
investigate the mechanisms governing dosage sensitivity and aneuploid syndromes. Indeed, genotype alters the
frequencyofaneuploidtypeswithintheseswarms.Recombinantinbredlinesthatwerederivedfromatriploidhybrid
segregated into diploid and tetraploid individuals. In these recombinant inbred lines, a single locus, which we call
SENSITIVETODOSAGEIMBALANCE(SDI),exhibitedsegregationdistortioninthetetraploidsubpopulationonly.Recent
progressinquantitativegenotypingnowallowsmolecularkaryotypingandgeneticanalysisofaneuploidpopulations.
Inthisstudy,weinvestigatedthecausesoftheploidy-specificdistortionatSDI.Allelefrequencywasdistortedinthe
aneuploid swarms produced by the triploid hybrid. We developed a simple quantitative measure for aneuploidy
lethality and using this measure demonstrated that distortion was greatest in the aneuploids facing the strongest
viabilityselection.Whentriploidswerecrossedtoeuploids,theprogeny,whichlacksevereaneuploids,exhibitedno
distortionatSDI.GeneticcharacterizationofSDIintheaneuploidswarmidentifiedamechanismgoverninganeuploid
survival,perhapsbybufferingtheeffectsofdosageimbalance.Assuch,SDIcouldincreasethelikelihoodofretaining
genomicrearrangementssuchassegmentalduplications.Additionally,inspecieswheretriploidsarefertile,aneuploid
survival would facilitate gene flow between diploid and tetraploid populations via a triploid bridge and prevent
polyploidspeciation.Ourresultsdemonstratethatpositionalcloningoflociaffectingtraitsinpopulationscontaining
ploidy
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