Spliceosomal gene mutations in myelodysplasia: molecular links to clonal abnormalities of hematopoiesis Review uri icon


MeSH Major

  • Hematopoiesis
  • Myelodysplastic Syndromes
  • Spliceosomes


  • Genomic analyses of the myeloid malignancies and clonal disorders of hematopoiesis that may give rise to these disorders have identified that mutations in genes encoding core spliceosomal proteins and accessory regulatory splicing factors are among the most common targets of somatic mutations. These spliceosomal mutations often occur in a mutually exclusive manner with one another and, in aggregate, account for the most frequent class of mutations in patients with myelodysplastic syndromes (MDSs) in particular. Although substantial progress has been made in understanding the effects of several of these mutations on splicing and splice site recognition, functional connections linking the mechanistic changes in splicing induced by these mutations to the phenotypic consequences of clonal and aberrant hematopoiesis are not yet well defined. This review describes our current understanding of the mechanistic and biological effects of spliceosomal gene mutations in MDSs as well as the regulation of splicing throughout normal hematopoiesis.

publication date

  • May 2016



  • Review



  • eng

PubMed Central ID

  • PMC4863743

Digital Object Identifier (DOI)

  • 10.1101/gad.278424.116

PubMed ID

  • 27151974

Additional Document Info

start page

  • 989

end page

  • 1001


  • 30


  • 9