Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Hartmann, L; Dutta, S; Opatz, S; Vosberg, S; Reiter, K; Leubolt, G; Metzeler, KH; Herold, T; Bamopoulos, SA; Bräundl, K; Zellmeier, E; Ksienzyk, B; Konstandin, NP; Schneider, S; Hopfner, KP; Graf, A; Krebs, S; Blum, H; Middeke, JM; Stölzel, F; Thiede, C; Wolf, S; Bohlander, SK; Preiss, C; Chen-Wichmann, L; Wichmann, C; Sauerland, MC; Büchner, T; Berdel, WE; Wörmann, BJ; Braess, J; Hiddemann, W; Spiekermann, K; Greif, PA.
ZBTB7A mutations in acute myeloid leukaemia with t(8;21) translocation.
Nat Commun. 2016; 7(1): 11733-11733.
Doi: 10.1038/ncomms11733
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- Co-Autor*innen der Med Uni Graz
- Dutta Sayantanee
- Vosberg Sebastian
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Base Sequence -
- Cell Line, Tumor -
- Chromosomes, Human, Pair 21 - chemistry
- Chromosomes, Human, Pair 21 - metabolism
- Chromosomes, Human, Pair 8 - chemistry
- Chromosomes, Human, Pair 8 - metabolism
- Core Binding Factor Alpha 2 Subunit - genetics
- Core Binding Factor Alpha 2 Subunit - metabolism
- DNA-Binding Proteins - genetics
- DNA-Binding Proteins - metabolism
- Gene Expression Profiling -
- Gene Expression Regulation, Leukemic -
- Glycolysis - genetics
- HEK293 Cells -
- Humans -
- Leukemia, Myeloid, Acute - genetics
- Leukemia, Myeloid, Acute - metabolism
- Leukemia, Myeloid, Acute - mortality
- Leukemia, Myeloid, Acute - pathology
- Mutation -
- Oncogene Proteins, Fusion - genetics
- Oncogene Proteins, Fusion - metabolism
- Protein Domains -
- RUNX1 Translocation Partner 1 Protein - genetics
- RUNX1 Translocation Partner 1 Protein - metabolism
- Signal Transduction -
- Survival Analysis -
- Transcription Factors - genetics
- Transcription Factors - metabolism
- Translocation, Genetic -