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dc.contributor.authorLi, Nen_US
dc.contributor.authorJohnson, DCen_US
dc.contributor.authorWeinhold, Nen_US
dc.contributor.authorKimber, Sen_US
dc.contributor.authorDobbins, SEen_US
dc.contributor.authorMitchell, JSen_US
dc.contributor.authorKinnersley, Ben_US
dc.contributor.authorSud, Aen_US
dc.contributor.authorLaw, PJen_US
dc.contributor.authorOrlando, Gen_US
dc.contributor.authorScales, Men_US
dc.contributor.authorWardell, CPen_US
dc.contributor.authorFörsti, Aen_US
dc.contributor.authorHoang, PHen_US
dc.contributor.authorWent, Men_US
dc.contributor.authorHolroyd, Aen_US
dc.contributor.authorHariri, Fen_US
dc.contributor.authorPastinen, Ten_US
dc.contributor.authorMeissner, Ten_US
dc.contributor.authorGoldschmidt, Hen_US
dc.contributor.authorHemminki, Ken_US
dc.contributor.authorMorgan, GJen_US
dc.contributor.authorKaiser, Men_US
dc.contributor.authorHoulston, RSen_US
dc.date.accessioned2017-11-22T11:28:34Z
dc.date.issued2017-09en_US
dc.identifier.citationCell reports, 2017, 20 (11), pp. 2556 - 2564en_US
dc.identifier.issn2211-1247en_US
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/923
dc.identifier.eissn2211-1247en_US
dc.identifier.doi10.1016/j.celrep.2017.08.062en_US
dc.description.abstractMultiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant at 5q15 and the mechanism by which it influences tumorigenesis. We show that rs6877329 G > C resides in a predicted enhancer element that physically interacts with the transcription start site of ELL2. The rs6877329-C risk allele is associated with reduced enhancer activity and lowered ELL2 expression. Since ELL2 is critical to the B cell differentiation process, reduced ELL2 expression is consistent with inherited genetic variation contributing to arrest of plasma cell development, facilitating MM clonal expansion. These data provide evidence for a biological mechanism underlying a hereditary risk of MM at 5q15.en_US
dc.formatPrinten_US
dc.format.extent2556 - 2564en_US
dc.languageengen_US
dc.language.isoengen_US
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en_US
dc.subjectChromosomes, Human, Pair 5en_US
dc.subjectHumansen_US
dc.subjectMultiple Myelomaen_US
dc.subjectGenetic Predisposition to Diseaseen_US
dc.subjectNuclear Proteinsen_US
dc.subjectTranscriptional Elongation Factorsen_US
dc.subjectPrognosisen_US
dc.subjectRisk Factorsen_US
dc.subjectPhysical Chromosome Mappingen_US
dc.subjectEpigenesis, Geneticen_US
dc.subjectProtein Bindingen_US
dc.subjectDiploidyen_US
dc.subjectPolymorphism, Single Nucleotideen_US
dc.subjectAllelesen_US
dc.subjectEnhancer Elements, Geneticen_US
dc.subjectGenetic Locien_US
dc.subjectUnfolded Protein Responseen_US
dc.subjectEpigenomicsen_US
dc.subjectTranscription Elongation, Geneticen_US
dc.titleGenetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism.en_US
dc.typeJournal Article
dcterms.dateAccepted2017-08-18en_US
rioxxterms.versionofrecord10.1016/j.celrep.2017.08.062en_US
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0en_US
rioxxterms.licenseref.startdate2017-09en_US
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfCell reportsen_US
pubs.issue11en_US
pubs.notesNot knownen_US
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Molecular & Population Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Molecular & Population Genetics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Myeloma Group
pubs.publication-statusPublisheden_US
pubs.volume20en_US
pubs.embargo.termsNot knownen_US
icr.researchteamMolecular & Population Geneticsen_US
icr.researchteamMyeloma Groupen_US
dc.contributor.icrauthorHoulston, Richarden_US
dc.contributor.icrauthorJohnson, Daviden_US
dc.contributor.icrauthorKinnersley, Benjaminen_US
dc.contributor.icrauthorLaw, Philipen_US
dc.contributor.icrauthorKaiser, Martinen_US
dc.contributor.icrauthorSud, Amiten_US
dc.contributor.icrauthorHoang, Phucen_US
dc.contributor.icrauthorLi, Nien_US


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Except where otherwise noted, this item's license is described as http://creativecommons.org/licenses/by/4.0/