Brain Transcriptional and Epigenetic Associations with Autism 英文参考文献.docVIP

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Brain Transcriptional and Epigenetic Associations with Autism 英文参考文献.doc

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Brain Transcriptional and Epigenetic Associations with Autism 英文参考文献

BrainTranscriptionalandEpigeneticAssociationswith Autism MatthewR.Ginsberg1,RobertA.Rubin2,TatianaFalcone3,AngelaH.Ting4,MarvinR.Natowicz1,3,4,5* 1ClevelandClinicLernerCollegeofMedicine,Cleveland,Ohio,UnitedStatesofAmerica,2DepartmentofMathematics,WhittierCollege,Whittier,California,UnitedStates ofAmerica,3NeurologicalInstitute,ClevelandClinic,Cleveland,Ohio,UnitedStatesofAmerica,4GenomicMedicineInstitute,ClevelandClinic,Cleveland,Ohio,United StatesofAmerica,5PathologyandLaboratoryMedicineandPediatricsInstitutes,ClevelandClinic,Cleveland,Ohio,UnitedStatesofAmerica Abstract Background: Autism is a common neurodevelopmental syndrome. Numerous rare genetic etiologies are reported; most casesareidiopathic. Methodology/Principal Findings: To uncover important gene dysregulation in autism we analyzed carefully selected idiopathic autistic and control cerebellar and BA19 (occipital) brain tissues using high resolution whole genome gene expressionandwholegenomeDNAmethylationmicroarrays. NochangesinDNAmethylationwereidentifiedinautistic brain but gene expression abnormalities in two areas of metabolism were apparent: down-regulation of genes of mitochondrialoxidativephosphorylationandofproteintranslation.Wealsofoundassociationsbetweenspecificbehavioral domains of autism and specific brain gene expression modules related to myelin/myelination, inflammation/immune responseandpurinergicsignaling. Conclusions/Significance:Thisworkhighlightstwolargelyunrecognizedmolecularpathophysiologicalthemesinautism andsuggestsdifferingmolecularbasesforautismbehavioralendophenotypes. Citation:GinsbergMR,RubinRA,FalconeT,TingAH,NatowiczMR(2012)BrainTranscriptionalandEpigeneticAssociationswithAutism.PLoSONE7(9):e44736. doi:10.1371/journal.pone.0044736 Editor:NicolettaLandsberger,UniversityofInsubria,Italy ReceivedMay29,2012;AcceptedAugust7,2012;PublishedSeptember12,2012 Copyright: ? 2012 Ginsberg et al. This is an open-access article distributed under the terms of the Creative Commons Attr