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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-eQTLscaninfluencetheexpressionlevelofnearbyprotein-codinggenesandthuscouldbeconsideredasQTLsforenhanceractivity.EnrichmentofexpressedlincRNApromotersinenhancermarksprovidesanadditionalargumentfortheinvolvementofl
6、incRNAsintheregulationoftranscriptionincis.ByinvestigatingtheepigeneticregulationoflincRNAs,weobservedbothpositiveandnegativecorrelationsbetweenDNAmethylationandgeneexpression(expressionquantitativetraitmethylation[eQTMs]),asexpected,andfoundthatthelandscapesofpassive
7、andactiverolesofDNAmethylationingeneregulationaresimilartoprotein-codinggenes.However,lincRNAeQTMsarelocatedclosertoTSSsthanareprotein-codinggeneeQTMs.ThesesimilaritiesanddifferencesingeneticandepigeneticregulationbetweenlincRNAsandprotein-codinggenescontributetotheel
8、ucidationofpotentialfunctionsoflincRNAs.Introductionmakecell-type-specific‘‘flexiblescaffolds’’wheredistinctsetsoftranscribedl
