Ontology highlight
ABSTRACT:
SUBMITTER: Okeyo-Owuor T
PROVIDER: S-EPMC4391984 | biostudies-literature | 2015 Apr
REPOSITORIES: biostudies-literature
Okeyo-Owuor T T White B S BS Chatrikhi R R Mohan D R DR Kim S S Griffith M M Ding L L Ketkar-Kulkarni S S Hundal J J Laird K M KM Kielkopf C L CL Ley T J TJ Walter M J MJ Graubert T A TA
Leukemia 20141014 4
We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS). Although the role of U2AF1 as an accessory factor in the U2 snRNP is well established, it is not yet clear how these mutations affect splicing or contribute to MDS pathophysiology. We analyzed splice junctions in RNA-seq data generated from transfected CD34+ hematopoietic cells and found signifi ...[more]