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Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma

Author

Listed:
  • Hiromichi Suzuki

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • Sachin A. Kumar

    (The Hospital for Sick Children
    The Hospital for Sick Children
    University of Toronto)

  • Shimin Shuai

    (Ontario Institute for Cancer Research
    University of Toronto)

  • Ander Diaz-Navarro

    (Instituto Universitario de Oncología, Universidad de Oviedo
    Centro de Investigación Biomédica en Red de Cáncer)

  • Ana Gutierrez-Fernandez

    (Instituto Universitario de Oncología, Universidad de Oviedo
    Centro de Investigación Biomédica en Red de Cáncer)

  • Pasqualino Antonellis

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • Florence M. G. Cavalli

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • Kyle Juraschka

    (The Hospital for Sick Children
    The Hospital for Sick Children
    University of Toronto)

  • Hamza Farooq

    (The Hospital for Sick Children
    The Hospital for Sick Children
    University of Toronto)

  • Ichiyo Shibahara

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • Maria C. Vladoiu

    (The Hospital for Sick Children
    The Hospital for Sick Children
    University of Toronto)

  • Jiao Zhang

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • Namal Abeysundara

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • David Przelicki

    (The Hospital for Sick Children
    The Hospital for Sick Children
    University of Toronto)

  • Patryk Skowron

    (The Hospital for Sick Children
    The Hospital for Sick Children
    University of Toronto)

  • Nicole Gauer

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • Betty Luu

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • Craig Daniels

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • Xiaochong Wu

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • Antoine Forget

    (CNRS UMR, INSERM, Institut Curie, PSL Research University
    CNRS UMR 3347, INSERM U1021, Université Paris Sud, Université Paris-Saclay)

  • Ali Momin

    (The Hospital for Sick Children
    The Hospital for Sick Children
    University of Toronto)

  • Jun Wang

    (Tumor Initiation and Maintenance Program, NCI-Designated Cancer Center, Sanford Burnham Prebys Medical Discovery Institute)

  • Weifan Dong

    (The Hospital for Sick Children
    The Hospital for Sick Children
    University of Toronto)

  • Seung-Ki Kim

    (Seoul National University Children’s Hospital)

  • Wieslawa A. Grajkowska

    (The Children’s Memorial Health Institute)

  • Anne Jouvet

    (Centre de Pathologie EST, Groupement Hospitalier EST, Université de Lyon)

  • Michelle Fèvre-Montange

    (CNRS UMR5292, INSERM U1028, Centre de Recherche en Neurosciences, Université de Lyon)

  • Maria Luisa Garrè

    (Neuro-Oncology Unit, Istituto Giannina Gaslini)

  • Amulya A. Nageswara Rao

    (Mayo Clinic)

  • Caterina Giannini

    (Mayo Clinic)

  • Johan M. Kros

    (Erasmus University Medical Center)

  • Pim J. French

    (Erasmus University Medical Center)

  • Nada Jabado

    (McGill University)

  • Ho-Keung Ng

    (The Chinese University of Hong Kong)

  • Wai Sang Poon

    (The Chinese University of Hong Kong)

  • Charles G. Eberhart

    (John Hopkins University School of Medicine
    John Hopkins University School of Medicine
    John Hopkins University School of Medicine)

  • Ian F. Pollack

    (University of Pittsburgh School of Medicine)

  • James M. Olson

    (Fred Hutchinson Cancer Research Center)

  • William A. Weiss

    (University of California San Francisco
    University of California San Francisco
    University of California San Francisco)

  • Toshihiro Kumabe

    (Kitasato University School of Medicine)

  • Enrique López-Aguilar

    (Hospital Pediatría Centro Médico Nacional Century XXI)

  • Boleslaw Lach

    (Division of Anatomical Pathology, McMaster University
    Hamilton General Hospital)

  • Maura Massimino

    (Fondazione IRCCS Istituto Nazionale Tumori)

  • Erwin G. Meir

    (Winship Cancer Institute, Emory University
    School of Medicine, Emory University
    School of Medicine, Emory University)

  • Joshua B. Rubin

    (Washington University School of Medicine
    Washington University School of Medicine)

  • Rajeev Vibhakar

    (University of Colorado Anschutz Medical Campus)

  • Lola B. Chambless

    (Vanderbilt Medical Center)

  • Noriyuki Kijima

    (Osaka National Hospital)

  • Almos Klekner

    (University of Debrecen)

  • László Bognár

    (University of Debrecen)

  • Jennifer A. Chan

    (Charbonneau Cancer Institute, University of Calgary)

  • Claudia C. Faria

    (Hospital de Santa Maria
    Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa)

  • Jiannis Ragoussis

    (McGill University
    McGill University)

  • Stefan M. Pfister

    (Hopp Children’s Cancer Center Heidelberg (KiTZ)
    Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK)
    Heidelberg University Hospital)

  • Anna Goldenberg

    (University of Toronto
    Program in Genetics and Genome Biology, The Hospital for Sick Children)

  • Robert J. Wechsler-Reya

    (Tumor Initiation and Maintenance Program, NCI-Designated Cancer Center, Sanford Burnham Prebys Medical Discovery Institute
    University of California San Diego)

  • Swneke D. Bailey

    (Faculty of Medicine, McGill University
    Cancer Research Program, Research Institute of the McGill University Health Centre)

  • Livia Garzia

    (Cancer Research Program, Research Institute of the McGill University Health Centre
    Faculty of Medicine, McGill University)

  • A. Sorana Morrissy

    (Charbonneau Cancer Institute, University of Calgary
    Cumming School of Medicine, University of Calgary)

  • Marco A. Marra

    (Canada’s Michael Smith Genome Sciences Centre, BC Cancer Agency
    University of British Columbia)

  • Xi Huang

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • David Malkin

    (The Hospital for Sick Children)

  • Olivier Ayrault

    (CNRS UMR, INSERM, Institut Curie, PSL Research University
    CNRS UMR 3347, INSERM U1021, Université Paris Sud, Université Paris-Saclay)

  • Vijay Ramaswamy

    (The Hospital for Sick Children
    The Hospital for Sick Children)

  • Xose S. Puente

    (Instituto Universitario de Oncología, Universidad de Oviedo
    Centro de Investigación Biomédica en Red de Cáncer)

  • John A. Calarco

    (University of Toronto)

  • Lincoln Stein

    (Ontario Institute for Cancer Research)

  • Michael D. Taylor

    (The Hospital for Sick Children
    The Hospital for Sick Children
    University of Toronto
    The Hospital for Sick Children)

Abstract

In cancer, recurrent somatic single-nucleotide variants—which are rare in most paediatric cancers—are confined largely to protein-coding genes1–3. Here we report highly recurrent hotspot mutations (r.3A>G) of U1 spliceosomal small nuclear RNAs (snRNAs) in about 50% of Sonic hedgehog (SHH) medulloblastomas. These mutations were not present across other subgroups of medulloblastoma, and we identified these hotspot mutations in U1 snRNA in only

Suggested Citation

  • Hiromichi Suzuki & Sachin A. Kumar & Shimin Shuai & Ander Diaz-Navarro & Ana Gutierrez-Fernandez & Pasqualino Antonellis & Florence M. G. Cavalli & Kyle Juraschka & Hamza Farooq & Ichiyo Shibahara & M, 2019. "Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma," Nature, Nature, vol. 574(7780), pages 707-711, October.
    • Handle: RePEc:nat:nature:v:574:y:2019:i:7780:d:10.1038_s41586-019-1650-0
    DOI: 10.1038/s41586-019-1650-0
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    Citations

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    Cited by:

    1. Samuel Rivero-Hinojosa & Melanie Grant & Aswini Panigrahi & Huizhen Zhang & Veronika Caisova & Catherine M. Bollard & Brian R. Rood, 2021. "Proteogenomic discovery of neoantigens facilitates personalized multi-antigen targeted T cell immunotherapy for brain tumors," Nature Communications, Nature, vol. 12(1), pages 1-15, December.
    2. Jasmin Bartl & Marco Zanini & Flavia Bernardi & Antoine Forget & Lena Blümel & Julie Talbot & Daniel Picard & Nan Qin & Gabriele Cancila & Qingsong Gao & Soumav Nath & Idriss Mahoungou Koumba & Mariet, 2022. "The HHIP-AS1 lncRNA promotes tumorigenicity through stabilization of dynein complex 1 in human SHH-driven tumors," Nature Communications, Nature, vol. 13(1), pages 1-15, December.

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