학술논문
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma
Document Type
redif-article
Author
Source
Nature, Nature. 574(7780):707-711
Subject
Language
English
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