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Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

dc.contributor.authorSALIBA, Jacqueline
IDREF: 17096647X
hal.structure.identifierOuvrages hydrauliques et hydrologie [UR OHAX]
dc.contributor.authorSAINT-MARTIN, C.
dc.contributor.authorDI STEFANO, A.
dc.contributor.authorLENGLET, G.
hal.structure.identifierInstitut de recherche en astrophysique et planétologie [IRAP]
dc.contributor.authorMARTY, C.
hal.structure.identifierCHU Pitié-Salpêtrière [AP-HP]
dc.contributor.authorKEREN, B.
hal.structure.identifierCentre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
dc.contributor.authorPASQUIER, F.
dc.contributor.authorVALLE, V. D.
dc.contributor.authorSECARDIN, L.
dc.contributor.authorLEROY, G.
dc.contributor.authorMAHFOUDHI, E.
dc.contributor.authorGROSJEAN, S.
hal.structure.identifierHématopoïèse normale et pathologique
hal.structure.identifierUniversité Paris XI
dc.contributor.authorDROIN, N.
dc.contributor.authorDIOP, M'boyba
hal.structure.identifierGénomes et cancer [GC (FRE2939)]
dc.contributor.authorDESSEN, P.
hal.structure.identifierApproches génétiques intégrées et nouvelles thérapies pour les maladies rares [INTEGRARE]
dc.contributor.authorCHARRIER, S.
dc.contributor.authorPALAZZO, A.
dc.contributor.authorMERLEVEDE, J.
dc.contributor.authorMENIANE, J. C.
dc.contributor.authorDELAUNAY-DARIVON, C.
dc.contributor.authorFUSEAU, P.
hal.structure.identifierCHU Saint-Antoine [AP-HP]
dc.contributor.authorISNARD, F.
hal.structure.identifierHématopoïèse normale et pathologique [U1170 Inserm]
dc.contributor.authorCASADEVALL, N.
hal.structure.identifierHématopoïèse normale et pathologique
hal.structure.identifierUniversité Paris XI
hal.structure.identifierInstitut Gustave Roussy [IGR]
dc.contributor.authorSOLARY, E.
dc.contributor.authorDEBILI, N.
dc.contributor.authorBERNARD, O. A.
dc.contributor.authorRASLOVA, H.
hal.structure.identifierCHU Saint-Antoine [AP-HP]
dc.contributor.authorNAJMAN, A.
hal.structure.identifierHématopoïèse normale et pathologique
hal.structure.identifierInstitut Gustave Roussy [IGR]
dc.contributor.authorVAINCHENKER, W.
hal.structure.identifierUniversité Pierre et Marie Curie - Paris 6 [UPMC]
dc.contributor.authorBELLANNE-CHANTELOT, C.
hal.structure.identifierInstitut Gustave Roussy [IGR]
hal.structure.identifierHématopoïèse normale et pathologique [U1170 Inserm]
dc.contributor.authorPLO, I.
dc.date.accessioned2021-05-14T09:34:12Z
dc.date.available2021-05-14T09:34:12Z
dc.date.issued2015-10
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/76113
dc.description.abstractEnNo major predisposition gene for familial myeloproliferative neoplasms (MPN) has been identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb duplication in four genetically related families predisposes to myeloid malignancies, including MPN, frequently progressing to leukemia. Using induced pluripotent stem cells and primary cells, we demonstrate that overexpression of ATG2B and GSKIP enhances hematopoietic progenitor differentiation, including of megakaryocytes, by increasing progenitor sensitivity to thrombopoietin (TPO). ATG2B and GSKIP cooperate with acquired JAK2, MPL and CALR mutations during MPN development. Thus, the germline duplication may change the fitness of cells harboring signaling pathway mutations and increases the probability of disease development.
dc.language.isoen
dc.title.enGermline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies
dc.typeArticle de revue
dc.identifier.doi10.1038/ng.3380
dc.subject.halSciences du Vivant [q-bio]
bordeaux.journalNat Genet
bordeaux.page1131-40
bordeaux.volume47
bordeaux.hal.laboratoriesInstitut de Mécanique et d’Ingénierie de Bordeaux (I2M) - UMR 5295*
bordeaux.issue10
bordeaux.institutionUniversité de Bordeaux
bordeaux.institutionBordeaux INP
bordeaux.institutionCNRS
bordeaux.institutionINRAE
bordeaux.institutionArts et Métiers
bordeaux.peerReviewedoui
hal.identifierhal-02881018
hal.version1
hal.origin.linkhttps://hal.archives-ouvertes.fr//hal-02881018v1
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nat%20Genet&rft.date=2015-10&rft.volume=47&rft.issue=10&rft.spage=1131-40&rft.epage=1131-40&rft.au=SALIBA,%20Jacqueline&SAINT-MARTIN,%20C.&DI%20STEFANO,%20A.&LENGLET,%20G.&MARTY,%20C.&rft.genre=article


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