Ontology highlight
ABSTRACT:
SUBMITTER: Shiozawa Y
PROVIDER: S-EPMC6128865 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Nature communications 20180907 1
Spliceosome mutations are frequently found in myelodysplasia. Splicing alterations induced by these mutations, their precise targets, and the effect at the transcript level have not been fully elucidated. Here we report transcriptomic analyses of 265 bone marrow samples from myelodysplasia patients, followed by a validation using CRISPR/Cas9-mediated gene editing and an assessment of nonsense-mediated decay susceptibility. Small but widespread reduction of intron-retaining isoforms is the most f ...[more]