Differential Allelic Expression in the Human Genome A Robust Approach To Identify Genetic and Epigenetic Cis-Acting Mechanisms Regulating Gene Expression 英文参考文献.docVIP

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Differential Allelic Expression in the Human Genome A Robust Approach To Identify Genetic and Epigenetic Cis-Acting Mechanisms Regulating Gene Expression 英文参考文献.doc

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Differential Allelic Expression in the Human Genome A Robust Approach To Identify Genetic and Epigenetic Cis-Acting Mechanisms Regulating Gene Expression 英文参考文献

DifferentialAllelicExpressionintheHumanGenome:A RobustApproachToIdentifyGeneticandEpigeneticCis- ActingMechanismsRegulatingGeneExpression DavidSerre1,2¤a*,ScottGurd1,BingGe1,2,RobertSladek1,DonnaSinnett1,2,EefHarmsen1,2 ,Marina Bibikova3,EugeneChudin3¤b,DavidL.Barker3,ToddDickinson3,Jian-BingFan3,ThomasJ.Hudson1,2¤c 1McGillUniversity,Montreal,Quebec,Canada,2GenomeQuebecInnovationCentre,Montreal,Quebec,Canada,3IlluminaInc.,SanDiego,California,UnitedStatesof America Abstract Therecentdevelopmentofwholegenomeassociationstudieshasleadtotherobustidentificationofseverallociinvolved indifferentcommonhumandiseases.Interestingly,someofthestrongestsignalsofassociationobservedinthesestudies arisefromnon-codingregionslocatedinverylargeintronsorfarawayfromanyannotatedgenes,raisingthepossibilitythat theseregionsareinvolvedintheetiologyofthediseasethroughsomeunidentifiedregulatorymechanisms.Thesefindings highlighttheimportanceofbetterunderstandingthemechanismsleadingtointer-individualdifferencesingeneexpression in humans. Most of the existing approaches developed to identify common regulatory polymorphisms are based on linkage/association mapping of gene expression to genotypes. However, these methods have some limitations, notably their cost and the requirement of extensive genotyping information from all the individuals studied which limits their applications to a specific cohort or tissue. Here we describe a robust and high-throughput method to directly measure differencesinallelicexpressionforalargenumberofgenesusingtheIlluminaAllele-SpecificExpressionBeadArrayplatform andquantitativesequencingofRT-PCRproducts.Weshowthatthisapproachallowsreliableidentificationofdifferencesin therelativeexpressionofthetwoalleleslargerthan1.5-fold(i.e.,deviationsoftheallelicratiolargerthan60:40)andoffers severaladvantagesoverthemappingoftotalgeneexpression,particularlyforstudyinghumansoroutbredpopulations. Ouranalysisofmorethan80individualsfor2,968SNPslocatedin1,380genesconfirmsthatdifferentia