Human MLL/KMT2A gene exhibits a second breakpoint cluster region for recurrent MLL–USP2 fusions

Autor: Grazia Fazio, Maria S. Pombo-de-Oliveira, Seung Hwan Oh, Ingo Ebersberger, Seong Lin Khaw, Jan Zuna, Hansen J. Kosasih, Renate Panzer Grümayer, Rosemary Sutton, Chloé Arfeuille, Bruno Almeida Lopes, Aurélie Caye-Eude, Marketa Zaliova, Grigory Tsaur, Patrizia Larghero, Vesa Juvonen, Wendy Cuccuini, Rolf Marschalek, Claus Meyer, Gianni Cazzaniga, Audrey Bidet, Mariana Emerenciano, Gabriele Escherich, Bardya Djahanschiri, Hélène Cavé, Zuzana Zermanova, Tobias Feuchtinger, Paul G Ekert, Nicola C. Venn
Přispěvatelé: Meyer, C, Lopes, B, Caye-Eude, A, Cavé, H, Arfeuille, C, Cuccuini, W, Sutton, R, Venn, N, Oh, S, Tsaur, G, Escherich, G, Feuchtinger, T, Kosasih, H, Khaw, S, Ekert, P, Pombo-de-Oliveira, M, Bidet, A, Djahanschiri, B, Ebersberger, I, Zaliova, M, Zuna, J, Zermanova, Z, Juvonen, V, Grümayer, R, Fazio, G, Cazzaniga, G, Larghero, P, Emerenciano, M, Marschalek, R
Jazyk: angličtina
Rok vydání: 2019
Předmět:
FUSION PROTEIN
Cancer Research
Letter
EPS15 GENE
GENE LOCATION
MED/03 - GENETICA MEDICA
KMT2A gene
ENL GENE
POLYMERASE CHAIN REACTION
Chromosomal translocation
Histone-Lysine N-Methyltransferase
CENTROMERE
RECOMBINANT FUSION PROTEINS
Translocation
Genetic

GENETIC ASSOCIATION
GENE DELETION
Cohort Studies
CHROMOSOME 11
0302 clinical medicine
Genetics research
PRIORITY JOURNAL
UBIQUITIN THIOLESTERASE
GENETIC TRANSCRIPTION
CHROMOSOME REARRANGEMENT
0303 health sciences
GENE CLUSTER
Hematology
Leukemia
KMT2A GENE
breakpoint cluster region
HUMAN
EXON
HUMANS
3. Good health
Oncology
030220 oncology & carcinogenesis
Myeloid-Lymphoid Leukemia Protein
Ubiquitin Thiolesterase
HISTONE-LYSINE N-METHYLTRANSFERASE
KMT2A PROTEIN
HUMAN

medicine.medical_specialty
GENETICS
GENE IDENTIFICATION
CHROMOSOME TRANSLOCATION
Recombinant Fusion Proteins
COHORT ANALYSIS
MLL GENE
ELL GENE
TRANSLOCATION
GENETIC

HISTONE LYSINE METHYLTRANSFERASE
Biology
AF10 GENE
MYELOID-LYMPHOID LEUKEMIA PROTEIN
GENE FUSION
INTRON
03 medical and health sciences
MIXED LINEAGE LEUKEMIA PROTEIN
Text mining
LETTER
USP2 PROTEIN
HUMAN

Internal medicine
CANCER PATIENT
medicine
Humans
USP2 GENE
AF4 GENE
030304 developmental biology
Acute lymphocytic leukaemia
business.industry
COHORT STUDIES
BREAKPOINT CLUSTER REGION
medicine.disease
GENE
Molecular biology
AF9 GENE
AF6 GENE
PTD GENE
business
LEUKEMIA
GENE TRANSLOCATION
Zdroj: Leukemia
ISSN: 1476-5551
0887-6924
Popis: Conselho Nacional de Desenvolvimento Científico e Tecnológico, CNPq: PQ-2017#305529/2017-0 Deutsche Forschungsgemeinschaft, DFG: MA 1876/12-1 Alexander von Humboldt-Stiftung: 88881.136091/2017-01 RVO-VFN64165, 26/203.214/2017 2018.070.1 Associazione Italiana per la Ricerca sul Cancro, AIRC: IG2015, 17593 Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, CAPES Cancer Australia: PdCCRS1128727 Cancerfonden Barncancerfonden VetenskapsrÃ¥det, VR Crafoordska Stiftelsen Knut och Alice Wallenbergs Stiftelse Lund University Medical Faculty Foundation Xiamen University, XMU 2014S06 17-74-30019 C7838/A15733 Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, SNSF: 31003A_140913 CNIB Institut National Du Cancer, INCa R01 NCI CA167824 National Institutes of Health, NIH: S10OD018522 2016/2017, 02R/2016 AU 525/1-1 Deutschen Konsortium für Translationale Krebsforschung, DKTK 70112951 Smithsonian Institution, SI Israel Science Foundation, ISF Austrian Science Fund, FWF: W1212 SFB-F06107, SFB-F06105 Acknowledgements BAL received a fellowship provided by CAPES and the Alexander von Humboldt Foundation (#88881.136091/2017-01). ME is supported by CNPq (PQ-2017#305529/2017-0) and FAPERJ-JCNE (#26/203.214/2017) research scholarships, and ZZ by grant RVO-VFN64165. GC is supported by the AIRC Investigator grant IG2015 grant no. 17593 and RS by Cancer Australia grant PdCCRS1128727. This work was supported by grants to RM from the “Georg und Franziska Speyer’sche Hochsschulstiftung”, the “Wilhelm Sander foundation” (grant 2018.070.1) and DFG grant MA 1876/12-1. Acknowledgements This work was supported by The Swedish Childhood Cancer Foundation, The Swedish Cancer Society, The Swedish Research Council, The Knut and Alice Wallenberg Foundation, BioCARE, The Crafoord Foundation, The Per-Eric and Ulla Schyberg Foundation, The Nilsson-Ehle Donations, The Wiberg Foundation, and Governmental Funding of Clinical Research within the National Health Service. Work performed at the Center for Translational Genomics, Lund University has been funded by Medical Faculty Lund University, Region Skåne and Science for Life Laboratory, Sweden. Acknowledgements This work was supported by the Fujian Provincial Natural Science Foundation 2016S016 China and Putian city Natural Science Foundation 2014S06(2), Fujian Province, China. Alexey Ste-panov and Alexander Gabibov were supported by Russian Scientific Foundation project No. 17-74-30019. Jinqi Huang was supported by a doctoral fellowship from Xiamen University, China. Acknowledgments This work was supported by the Swiss National Science Foundation (grant 31003A_140913; OH) and the Cancer Research UK Experimental Cancer Medicine Centre Network, Cardiff ECMCI, grant C7838/A15733. We thank N. Carpino for the Sts-1/2 double-KO mice. Acknowledgements This work was supported by the French National Cancer Institute (INCA) and the Fondation Française pour la Recherche contre le Myélome et les Gammapathies (FFMRG), the Intergroupe Francophone du Myélome (IFM), NCI R01 NCI CA167824 and a generous donation from Matthew Bell. This work was supported in part through the computational resources and staff expertise provided by Scientific Computing at the Icahn School of Medicine at Mount Sinai. Research reported in this paper was supported by the Office of Research Infrastructure of the National Institutes of Health under award number S10OD018522. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors thank the Association des Malades du Myélome Multiple (AF3M) for their continued support and participation. Where authors are identified as personnel of the International Agency for Research on Cancer / World Health Organization, the authors alone are responsible for the views expressed in this article and they do not necessarily represent the decisions, policy or views of the International Agency for Research on Cancer / World Health Organization. We are indebted to all members of our groups for useful discussions and for their critical reading of the manuscript. Special thanks go to Silke Furlan, Friederike Opitz and Bianca Killing. F.A. is supported by the Deutsche For-schungsgemeinschaft (DFG, AU 525/1-1). J.H. has been supported by the German Children’s Cancer Foundation (Translational Oncology Program 70112951), the German Carreras Foundation (DJCLS 02R/2016), Kinderkrebsstiftung (2016/2017) and ERA PerMed GEPARD. Support by Israel Science Foundation, ERA-NET and Science Ministry (SI). A. B. is supported by the German Consortium of Translational Cancer Research, DKTK. We are grateful to the Jülich Supercomputing Centre at the Forschungszemtrum Jülich for granting computing time on the supercomputer JURECA (NIC project ID HKF7) and to the “Zentrum für Informations-und Medientechnologie” (ZIM) at the Heinrich Heine University Düsseldorf for providing computational support to H. G. The study was performed in the framework of COST action CA16223 “LEGEND”. Funding The work was supported by the Austrian Science Fund FWF grant SFB-F06105 to RM and SFB-F06107 to VS and FWF grant W1212 to VS.
Databáze: OpenAIRE