Spliceosome mutations in hematopoietic malignancies

Nat Genet. 2011 Dec 27;44(1):9-10. doi: 10.1038/ng.1045.

Abstract

Recent studies, including two in this issue, report heterozygous missense mutations in the U2AF1 and SF3B1 genes that encode spliceosome subunits. U2AF1 is frequently mutated in myeloid hematopoietic malignancies, especially in myelodysplastic syndrome (MDS), and SF3B1 is frequently mutated in both MDS and chronic lymphocytic leukemia (CLL).

MeSH terms

  • Alternative Splicing
  • Hematologic Neoplasms / genetics*
  • Humans
  • Mutation*
  • Nuclear Proteins / genetics
  • Phosphoproteins / genetics*
  • RNA Splicing Factors
  • Ribonucleoprotein, U2 Small Nuclear / genetics*
  • Ribonucleoproteins / genetics
  • Spliceosomes / genetics*
  • Splicing Factor U2AF

Substances

  • Nuclear Proteins
  • Phosphoproteins
  • RNA Splicing Factors
  • Ribonucleoprotein, U2 Small Nuclear
  • Ribonucleoproteins
  • SF3B1 protein, human
  • Splicing Factor U2AF
  • U2AF1 protein, human