Effects of Aneuploidy on Genome Structure, Expression, and Interphase Organization in Arabidopsis thaliana 英文参考文献.docVIP

EffectsofAneuploidyonGenomeStructure,Expression, andInterphaseOrganizationinArabidopsisthaliana BrunoHuettel1.¤,DavidP.Kreil2.,MarjoriMatzke1*,AntoniusJ.M.Matzke1 1GregorMendelInstituteofMolecularPlantBiology,AustrianAcademyofSciences,Vienna,Austria,2ChairofBioinformatics,BokuUniversityVienna,Vienna,Austria Abstract Aneuploidyreferstolossesand/orgainsofindividualchromosomesfromthenormalchromosomeset.Theresultinggene dosage imbalance has a noticeable affect on the phenotype, as illustrated by aneuploid syndromes, including Down syndromeinhumans,andbyhumansolidtumorcells,whicharehighlyaneuploid.Althoughthephenotypicmanifestations ofaneuploidyareusuallyapparent,informationabouttheunderlyingalterationsinstructure,expression,andinterphase organizationofunbalancedchromosomesetsisstillsparse.Plantsgenerallytolerateaneuploidybetterthananimals,and, throughcolchicinetreatmentandbreedingstrategies,itispossibletoobtaininbredsiblingplantswithdifferentnumbersof chromosomes.Thispossibility,combinedwiththegeneticandgenomicstoolsavailableforArabidopsisthaliana,providesa powerful means to assess systematically the molecular and cytological consequences of aberrant numbers of specific chromosomes.Here,wereportonthegenerationofArabidopsisplantsinwhichchromosome5ispresentintriplicate.We comparetheglobaltranscriptprofilesofnormaldiploidsandchromosome5trisomics,andassessgenomeintegrityusing array comparative genome hybridization. We use live cell imaging to determine the interphase 3D arrangement of transgene-encodedfluorescenttagsonchromosome5intrisomicandtriploidplants.Theresultsindicatethattrisomy5 disrupts gene expression throughout the genome and supports the production and/or retention of truncated copies of chromosome 5. Although trisomy 5 does not grossly distort the interphase arrangement of fluorescent-tagged sites on chromosome 5, it may somewhat enhance associations between transgene alleles. Our analysis reveals the complex genomicchangesthatcanoccurinaneuploidsandunderscor