Article
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.
Nature - 1 Oct 2019
Suzuki Hiromichi, Kumar Sachin A, Shuai Shimin, Diaz-Navarro Ander, Gutierrez-Fernandez Ana, De Antonellis Pasqualino, Cavalli Florence M G, Juraschka Kyle, Farooq Hamza, Shibahara Ichiyo, Vladoiu Maria C, Zhang Jiao, Abeysundara Namal, Przelicki David, Skowron Patryk, Gauer Nicole, Luu Betty, Daniels Craig, Wu Xiaochong, Forget Antoine, Momin Ali, Wang Jun, Dong Weifan, Kim Seung-Ki, Grajkowska Wieslawa A, Jouvet Anne, Fèvre-Montange Michelle, Garrè Maria Luisa, Nageswara Rao Amulya A, Giannini Caterina, Kros Johan M, French Pim J, Jabado Nada, Ng Ho-Keung, Poon Wai Sang, Eberhart Charles G, Pollack Ian F, Olson James M, Weiss William A, Kumabe Toshihiro, López-Aguilar Enrique, Lach Boleslaw, Massimino Maura, Van Meir Erwin G, Rubin Joshua B, Vibhakar Rajeev, Chambless Lola B, Kijima Noriyuki, Klekner Almos, Bognár László, Chan Jennifer A, Faria Claudia C, Ragoussis Jiannis, Pfister Stefan M, Goldenberg Anna, Wechsler-Reya Robert J, Bailey Swneke D, Garzia Livia, Morrissy A Sorana, Marra Marco A, Huang Xi, Malkin David, Ayrault Olivier, Ramaswamy Vijay, Puente Xose S, Calarco John A, Stein Lincoln, Taylor Michael D
Abstract excerpt
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...
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