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《lincRNA的基因調(diào)節(jié)--Genetic and Epigenetic Regulation of Human lincRNA Gene Expression》由會員上傳分享，免費在線閱讀，更多相關(guān)內(nèi)容在學(xué)術(shù)論文-天天文庫。
1、Pleasecitethisarticleinpressas:Popadinetal.,GeneticandEpigeneticRegulationofHumanlincRNAGeneExpression,TheAmericanJour-nalofHumanGenetics(2013),http://dx.doi.org/10.1016/j.ajhg.2013.10.022ARTICLEGeneticandEpigeneticRegulationofHumanlincRNAGeneExpressionKonstantinPopad
2、in,1,2,3,6MariaGutierrez-Arcelus,1,2,4,6EmmanouilT.Dermitzakis,1,2,4,5,*andStylianosE.Antonarakis1,2,*LargeintergenicnoncodingRNAs(lincRNAs)arestillpoorlyfunctionallycharacterized.Weanalyzedthegeneticandepigeneticregula-tionofhumanlincRNAexpressionintheGenCordcollecti
3、onbyusingthreecelltypesfrom195unrelatedEuropeanindividuals.Wedetectedaconsiderablenumberofcisexpressionquantitativetraitloci(cis-eQTLs)anddemonstratedthatthegeneticregulationoflincRNAexpressionisindependentoftheregulationofneighboringprotein-codinggenes.lincRNAshavere
4、lativelymorecis-eQTLsthandoequallyexpressedprotein-codinggeneswiththesameexonnumber.lincRNAcis-eQTLsarelocatedclosertotranscriptionstartsites(TSSs)andtheireffectsizesarehigherthancis-eQTLsfoundforprotein-codinggenes,suggestingthatlincRNAexpressionlevelsarelessconstrai
5、nedthanthatofprotein-codinggenes.Additionally,lincRNAcis-eQTLscanin?uencetheexpressionlevelofnearbyprotein-codinggenesandthuscouldbeconsideredasQTLsforenhanceractivity.EnrichmentofexpressedlincRNApromotersinenhancermarksprovidesanadditionalargumentfortheinvolvementofl
6、incRNAsintheregulationoftranscriptionincis.ByinvestigatingtheepigeneticregulationoflincRNAs,weobservedbothpositiveandnegativecorrelationsbetweenDNAmethylationandgeneexpression(expressionquantitativetraitmethylation[eQTMs]),asexpected,andfoundthatthelandscapesofpassive
7、andactiverolesofDNAmethylationingeneregulationaresimilartoprotein-codinggenes.However,lincRNAeQTMsarelocatedclosertoTSSsthanareprotein-codinggeneeQTMs.ThesesimilaritiesanddifferencesingeneticandepigeneticregulationbetweenlincRNAsandprotein-codinggenescontributetotheel
8、ucidationofpotentialfunctionsoflincRNAs.Introductionmakecell-type-speci?c‘‘?exiblescaffolds’’wheredistinctsetsoftranscribedl
