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dc.contributor.author Kleinman, CL
dc.contributor.author Gerges, N
dc.contributor.author Papillon-Cavanagh, S
dc.contributor.author Sin-Chan, P
dc.contributor.author Pramatarova, A
dc.contributor.author Quang, DA
dc.contributor.author Adoue, V
dc.contributor.author Busche, S
dc.contributor.author Caron, M
dc.contributor.author Djambazian, H
dc.contributor.author Bemmo, A
dc.contributor.author Fontebasso, AM
dc.contributor.author Spence, T
dc.contributor.author Schwartzentruber, J
dc.contributor.author Albrecht, S
dc.contributor.author Hauser, Péter
dc.contributor.author Garami, Miklós
dc.contributor.author Klekner, Álmos
dc.contributor.author Bognár, László
dc.contributor.author Montes, JL
dc.contributor.author Staffa, A
dc.contributor.author Montpetit, A
dc.contributor.author Berube, P
dc.contributor.author Zakrzewska, M
dc.contributor.author Zakrzewski, K
dc.contributor.author Liberski, PP
dc.contributor.author Dong, Z
dc.contributor.author Siegel, PM
dc.contributor.author Duchaine, T
dc.contributor.author Perotti, C
dc.contributor.author Fleming, A
dc.contributor.author Faury, D
dc.contributor.author Remke, M
dc.contributor.author Gallo, M
dc.contributor.author Dirks, P
dc.contributor.author Taylor, MD
dc.contributor.author Sladek, R
dc.contributor.author Pastinen, T
dc.contributor.author Chan, JA
dc.contributor.author Huang, A
dc.contributor.author Majewski, J
dc.contributor.author Jabado, N
dc.date.accessioned 2021-12-16T07:10:38Z
dc.date.available 2021-12-16T07:10:38Z
dc.date.issued 2014
dc.identifier 84891369303
dc.identifier.citation pagination=39-44; journalVolume=46; journalIssueNumber=1; journalTitle=NATURE GENETICS;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/2292
dc.identifier.uri doi:10.1038/ng.2849
dc.description.abstract Embryonal tumors with multilayered rosettes (ETMRs) are rare, deadly pediatric brain tumors characterized by high-level amplification of the microRNA cluster C19MC. We performed integrated genetic and epigenetic analyses of 12 ETMR samples and identified, in all cases, C19MC fusions to TTYH1 driving expression of the microRNAs. ETMR tumors, cell lines and xenografts showed a specific DNA methylation pattern distinct from those of other tumors and normal tissues. We detected extreme overexpression of a previously uncharacterized isoform of DNMT3B originating at an alternative promoter that is active only in the first weeks of neural tube development. Transcriptional and immunohistochemical analyses suggest that C19MC-dependent DNMT3B deregulation is mediated by RBL2, a known repressor of DNMT3B. Transfection with individual C19MC microRNAs resulted in DNMT3B upregulation and RBL2 downregulation in cultured cells. Our data suggest a potential oncogenic re-engagement of an early developmental program in ETMR via epigenetic alteration mediated by an embryonic, brain-specific DNMT3B isoform.
dc.relation.ispartof urn:issn:1061-4036; 1546-1718
dc.title Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR
dc.type Journal Article
dc.date.updated 2015-11-06T13:23:53Z
dc.language.rfc3066 en
dc.identifier.mtmt 2476829
dc.identifier.wos 000329113500010
dc.identifier.pubmed 24316981
dc.contributor.department SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika
dc.contributor.institution Semmelweis Egyetem


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