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Batcha, A.M.N.* ; Bamopoulos, S.A.* ; Kerbs, P.* ; Kumar, A.* ; Jurinovic, V.* ; Rothenberg-Thurley, M.* ; Ksienzyk, B.* ; Philippou-Massier, J.* ; Krebs, S.* ; Blum, H.* ; Schneider, S.* ; Konstandin, N.* ; Bohlander, S.K.* ; Heckman, C.* ; Kontro, M.* ; Hiddemann, W.* ; Spiekermann, K.* ; Braess, J.* ; Metzeler, K.H.* ; Greif, P.A.* ; Mansmann, U.* ; Herold, T.

Allelic imbalance of recurrently mutated genes in acute myeloid leukaemia.

Sci. Rep. 9:11796 (2019)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
The patho-mechanism of somatic driver mutations in cancer usually involves transcription, but the proportion of mutations and wild-type alleles transcribed from DNA to RNA is largely unknown. We systematically compared the variant allele frequencies of recurrently mutated genes in DNA and RNA sequencing data of 246 acute myeloid leukaemia (AML) patients. We observed that 95% of all detected variants were transcribed while the rest were not detectable in RNA sequencing with a minimum read-depth cut-off (10x). Our analysis focusing on 11 genes harbouring recurring mutations demonstrated allelic imbalance (AI) in most patients. GATA2, RUNX1, TET2, SRSF2, IDH2, PTPN11, WT1, NPM1 and CEBPA showed significant AIs. While the effect size was small in general, GATA2 exhibited the largest allelic imbalance. By pooling heterogeneous data from three independent AML cohorts with paired DNA and RNA sequencing (N = 253), we could validate the preferential transcription of GATA2-mutated alleles. Differential expression analysis of the genes with significant AI showed no significant differential gene and isoform expression for the mutated genes, between mutated and wild-type patients. In conclusion, our analyses identified AI in nine out of eleven recurrently mutated genes. AI might be a common phenomenon in AML which potentially contributes to leukaemogenesis.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Variants; Bias
Sprache englisch
Veröffentlichungsjahr 2019
HGF-Berichtsjahr 2019
ISSN (print) / ISBN 2045-2322
e-ISSN 2045-2322
Zeitschrift Scientific Reports
Quellenangaben Band: 9, Heft: 1, Seiten: , Artikelnummer: 11796 Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Begutachtungsstatus Peer reviewed
Institut(e) Research Unit Apoptosis in Hematopoietic Stem Cells (AHS)
POF Topic(s) 30204 - Cell Programming and Repair
Forschungsfeld(er) Stem Cell and Neuroscience
PSP-Element(e) G-506600-001
DOI 10.1038/s41598-019-48167-4
WOS ID WOS:000480517600025
Scopus ID 85070779933
PubMed ID 31409822
Erfassungsdatum 2019-08-18
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