Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma
Highly recurrent hotspot r.3A>G mutations are identified in U1 splicesomal small nuclear RNAs in about 50% of Sonic hedgehog medulloblastomas, which result in disrupted RNA splicing and the activation of oncogenes.
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| Main Authors: | , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
10 October 2019
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| In: |
Nature
Year: 2019, Volume: 574, Issue: 7780, Pages: 707-711 |
| ISSN: | 1476-4687 |
| DOI: | 10.1038/s41586-019-1650-0 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1038/s41586-019-1650-0 Verlag, Volltext: https://www.nature.com/articles/s41586-019-1650-0 
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| Author Notes: | Hiromichi Suzuki, Sachin A. Kumar, Shimin Shuai, Ander Diaz-Navarro, Ana Gutierrez-Fernandez, Pasqualino De Antonellis, Florence M. G. Cavalli, Kyle Juraschka, Hamza Farooq, Ichiyo Shibahara, Maria C. Vladoiu, Jiao Zhang, Namal Abeysundara, David Przelicki, Patryk Skowron, Nicole Gauer, Betty Luu, Craig Daniels, Xiaochong Wu, Antoine Forget, Ali Momin, Jun Wang, Weifan Dong, Seung-Ki Kim, Wieslawa A. Grajkowska, Anne Jouvet, Michelle Fèvre-Montange, Maria Luisa Garrè, Amulya A. Nageswara Rao, Caterina Giannini, Johan M. Kros, Pim J. French, Nada Jabado, Ho-Keung Ng, Wai Sang Poon, Charles G. Eberhart, Ian F. Pollack, James M. Olson, William A. Weiss, Toshihiro Kumabe, Enrique López-Aguilar, Boleslaw Lach, Maura Massimino, Erwin G. Van Meir, Joshua B. Rubin, Rajeev Vibhakar, Lola B. Chambless, Noriyuki Kijima, Almos Klekner, László Bognár, Jennifer A. Chan, Claudia C. Faria, Jiannis Ragoussis, Stefan M. Pfister, Anna Goldenberg, Robert J. Wechsler-Reya, Swneke D. Bailey, Livia Garzia, A. Sorana Morrissy, Marco A. Marra, Xi Huang, David Malkin, Olivier Ayrault, Vijay Ramaswamy, Xose S. Puente, John A. Calarco, Lincoln Stein, Michael D. Taylor |
| Summary: | Highly recurrent hotspot r.3A>G mutations are identified in U1 splicesomal small nuclear RNAs in about 50% of Sonic hedgehog medulloblastomas, which result in disrupted RNA splicing and the activation of oncogenes. |
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| Item Description: | Das pdf enthält 29 Seiten (Text und Anhänge) Gesehen am 16.01.2020 |
| Physical Description: | Online Resource |
| ISSN: | 1476-4687 |
| DOI: | 10.1038/s41586-019-1650-0 |