Recurrent non-coding U1-snRNA mutations drive cryptic splicing in Shh medulloblastoma

Recurrent non-coding U1-snRNA mutations drive cryptic splicing in Shh medulloblastoma

Recurrent somatic single nucleotide variants (SNVs) in cancer are largely confined to protein-coding genes, and are rare in most paediatric cancers . Here we report highly recurrent hotspot mutations of U1 spliceosomal small nuclear RNAs (snRNAs) in ~50% of Sonic hedgehog medulloblastomas (Shh-MB),...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Nature (London) 2019-10
Hauptverfasser: 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, Rao, Amulya A Nageswara, 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
Format: Artikel
Sprache:eng
Schlagworte:
Life Sciences
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Recurrent somatic single nucleotide variants (SNVs) in cancer are largely confined to protein-coding genes, and are rare in most paediatric cancers . Here we report highly recurrent hotspot mutations of U1 spliceosomal small nuclear RNAs (snRNAs) in ~50% of Sonic hedgehog medulloblastomas (Shh-MB), which were not present across other medulloblastoma subgroups. This U1-snRNA hotspot mutation (r.3a>g), was identified in
ISSN:0028-0836
1476-4687