U2AF1 mutations induce oncogenic IRAK4 isoforms and activate innate immune pathways in myeloid malignancies

Nat Cell Biol. 2019 May;21(5):640-650. doi: 10.1038/s41556-019-0314-5. Epub 2019 Apr 22.

Abstract

Spliceosome mutations are common in myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML), but the oncogenic changes due to these mutations have not been identified. Here a global analysis of exon usage in AML samples revealed distinct molecular subsets containing alternative spliced isoforms of inflammatory and immune genes. Interleukin-1 receptor-associated kinase 4 (IRAK4) was the dominant alternatively spliced isoform in MDS and AML and is characterized by a longer isoform that retains exon 4, which encodes IRAK4-long (IRAK4-L), a protein that assembles with the myddosome, results in maximal activation of nuclear factor kappa-light-chain-enhancer of B cells (NF-κB) and is essential for leukaemic cell function. Expression of IRAK4-L is mediated by mutant U2 small nuclear RNA auxiliary factor 1 (U2AF1) and is associated with oncogenic signalling in MDS and AML. Inhibition of IRAK4-L abrogates leukaemic growth, particularly in AML cells with higher expression of the IRAK4-L isoform. Collectively, mutations in U2AF1 induce expression of therapeutically targetable 'active' IRAK4 isoforms and provide a genetic link to activation of chronic innate immune signalling in MDS and AML.

Publication types

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

MeSH terms

  • Alternative Splicing / genetics
  • Exons / genetics
  • Female
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Immunity, Innate / genetics
  • Inflammation / genetics
  • Inflammation / pathology
  • Interleukin-1 Receptor-Associated Kinases / genetics*
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology
  • Male
  • Mutation / genetics
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / pathology
  • Protein Isoforms / genetics
  • Signal Transduction
  • Spliceosomes / genetics
  • Splicing Factor U2AF / genetics*

Substances

  • Protein Isoforms
  • Splicing Factor U2AF
  • U2AF1 protein, human
  • IRAK4 protein, human
  • Interleukin-1 Receptor-Associated Kinases