U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing

Leukemia. 2015 Apr;29(4):909-17. doi: 10.1038/leu.2014.303. Epub 2014 Oct 14.

Abstract

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 significant differences in the abundance of known and novel junctions in samples expressing mutant U2AF1 (S34F). For selected transcripts, splicing alterations detected by RNA-seq were confirmed by analysis of primary de novo MDS patient samples. These effects were not due to impaired U2AF1 (S34F) localization as it co-localized normally with U2AF2 within nuclear speckles. We further found evidence in the RNA-seq data for decreased affinity of U2AF1 (S34F) for uridine (relative to cytidine) at the e-3 position immediately upstream of the splice acceptor site and corroborated this finding using affinity-binding assays. These data suggest that the S34F mutation alters U2AF1 function in the context of specific RNA sequences, leading to aberrant alternative splicing of target genes, some of which may be relevant for MDS pathogenesis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Antigens, CD34 / genetics
  • Antigens, CD34 / metabolism
  • Base Sequence
  • Binding Sites
  • Fetal Blood / cytology
  • Fetal Blood / metabolism
  • Humans
  • Leukocytes, Mononuclear / cytology
  • Leukocytes, Mononuclear / metabolism*
  • Molecular Sequence Data
  • Mutation
  • Myelodysplastic Syndromes / genetics
  • Myelodysplastic Syndromes / metabolism
  • Myelodysplastic Syndromes / pathology
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Plasmids
  • Primary Cell Culture
  • Protein Binding
  • RNA Precursors / chemistry
  • RNA Precursors / genetics*
  • RNA Precursors / metabolism
  • Ribonucleoproteins / chemistry
  • Ribonucleoproteins / genetics*
  • Ribonucleoproteins / metabolism
  • Signal Transduction
  • Spliceosomes / genetics
  • Spliceosomes / metabolism*
  • Splicing Factor U2AF
  • Transfection

Substances

  • Antigens, CD34
  • Nuclear Proteins
  • RNA Precursors
  • Ribonucleoproteins
  • Splicing Factor U2AF
  • U2AF1 protein, human