Article
U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing.
Leukemia - 1 Apr 2015
Okeyo-Owuor T, White B S, Chatrikhi R, Mohan D R, Kim S, Griffith M, Ding L, Ketkar-Kulkarni S, Hundal J, Laird K M, Kielkopf C L, Ley T J, Walter M J, Graubert T A
Abstract excerpt
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...
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