PuSH - Publikationsserver des Helmholtz Zentrums München

Hartmann, L. ; Dutta, S. ; Opatz, S. ; Vosberg, S. ; Reiter, K. ; Leubolt, G. ; Metzeler, K.H. ; Herold, T. ; Bamopoulos, S.A.* ; Bräundl, K.* ; Zellmeier, E.* ; Ksienzyk, B.* ; Konstandin, N.P.* ; Schneider, S.* ; Hopfner, K.P.* ; Graf, A.* ; Krebs, S.* ; Blum, H.* ; Middeke, J.M.* ; Stölzel, F.* ; Thiede, C.* ; Wolf, S.* ; Bohlander, S.K.* ; Preiss, C.* ; Chen-Wichmann, L.* ; Wichmann, C.* ; Sauerland, M.C.* ; Büchner, T.* ; Berdel, W.E.* ; Wörmann, B.J.* ; Braess, J.* ; Hiddemann, W. ; Spiekermann, K. ; Greif, P.A.

ZBTB7A mutations in acute myeloid leukaemia with t(8;21) translocation.

Nat. Commun. 7:11733 (2016)
Verlagsversion Anhang DOI
Open Access Gold
Creative Commons Lizenzvertrag
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.
Altmetric
Weitere Metriken?
Zusatzinfos bearbeiten [➜Einloggen]
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Tumor-suppressor; Aml1-eto; Gene; Expression; Repression; Protein; Domain; Fbi-1; Identification; Transformation
ISSN (print) / ISBN 2041-1723
e-ISSN 2041-1723
Zeitschrift Nature Communications
Quellenangaben Band: 7, Heft: , Seiten: , Artikelnummer: 11733 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Begutachtungsstatus Peer reviewed