id,collection,dc.contributor.author[],dc.date.accessioned[],dc.date.available[],dc.date.issued[],dc.description.abstract[en],dc.format.extent[],dc.identifier.uri,dc.identifier.uri[],dc.language[],dc.rights.uri[],dc.subject.ddc,dc.subject[],dc.title[],dc.type[],dcterms.accessRights.openaire,dcterms.bibliographicCitation.doi[],dcterms.bibliographicCitation.url[],dcterms.bibliographicCitation[],refubium.affiliation[de],refubium.mycore.derivateId[],refubium.mycore.fudocsId[],refubium.note.author[],refubium.resourceType.isindependentpub[] "061efb1f-f91f-4e89-82bc-dfa55d255a9b","fub188/15","Hartmann, Luise||Dutta, Sayantanee||Opatz, Sabrina||Vosberg, Sebastian||Reiter, Katrin||Leubolt, Georg||Metzeler, Klaus H.||Herold, Tobias||Bamopoulos, Stefanos A.||Bräundl, Kathrin||Zellmeier, Evelyn||Ksienzyk, Bianka||Konstandin, Nikola P.||Schneider, Stephanie||Hopfner, Karl-Peter||Graf, Alexander||Krebs, Stefan||Blum, Helmut||Middeke, Jan Moritz||Stölzel, Friedrich||Thiede, Christian||Wolf, Stephan||Bohlander, Stefan K.||Preiss, Caroline||Chen-Wichmann, Linping||Wichmann, Christian||Sauerland, Maria Cristina||Büchner, Thomas||Berdel, Wolfgang E.||Wörmann, Bernhard J.||Braess, Jan||Hiddemann, Wolfgang||Spiekermann, Karsten||Greif, Philipp A.","2018-06-08T04:02:34Z","2016-07-08T09:39:30.766Z","2016","The t(8;21) translocation is one of the most frequent cytogenetic abnormalities in acute myeloid leukaemia (AML) and results in the RUNX1/RUNX1T1 rearrangement. Despite the causative role of the RUNX1/RUNX1T1 fusion gene in leukaemia initiation, additional genetic lesions are required for disease development. Here we identify recurring ZBTB7A mutations in 23% (13/56) of AML t(8;21) patients, including missense and truncating mutations resulting in alteration or loss of the C-terminal zinc-finger domain of ZBTB7A. The transcription factor ZBTB7A is important for haematopoietic lineage fate decisions and for regulation of glycolysis. On a functional level, we show that ZBTB7A mutations disrupt the transcriptional repressor potential and the anti-proliferative effect of ZBTB7A. The specific association of ZBTB7A mutations with t(8;21) rearranged AML points towards leukaemogenic cooperativity between mutant ZBTB7A and the RUNX1/RUNX1T1 fusion.","7 S.","http://dx.doi.org/10.17169/refubium-20652","https://refubium.fu-berlin.de/handle/fub188/16471","eng","http://creativecommons.org/licenses/by/4.0/","600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit","Biological sciences||Cancer||Genetics||Molecular biology","ZBTB7A mutations in acute myeloid leukaemia with t(8;21) translocation","Wissenschaftlicher Artikel","open access","10.1038/ncomms11733","http://www.nature.com/ncomms/2016/160602/ncomms11733/full/ncomms11733.html","Nature Communications. - 7 (2016), Artikel Nr. 11733","Charité - Universitätsmedizin Berlin","FUDOCS_derivate_000000006738","FUDOCS_document_000000024963","Der Artikel wurde in einer Open-Access-Zeitschrift publiziert.","no"