How do messenger RNA splicing alterations drive myelodysplasia?

Blood. 2017 May 4;129(18):2465-2470. doi: 10.1182/blood-2017-02-692715. Epub 2017 Mar 27.

Abstract

Mutations in RNA splicing factors are the single most common class of genetic alterations in myelodysplastic syndrome (MDS) patients. Although much has been learned about how these mutations affect splicing at a global- and transcript-specific level, critical questions about the role of these mutations in MDS development and maintenance remain. Here we present the questions to be addressed in order to understand the unique enrichment of these mutations in MDS.

Publication types

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

MeSH terms

  • Epigenesis, Genetic*
  • Humans
  • Myelodysplastic Syndromes* / metabolism
  • Phosphoproteins* / genetics
  • Phosphoproteins* / metabolism
  • RNA Splicing Factors* / genetics
  • RNA Splicing Factors* / metabolism
  • RNA Splicing*
  • RNA, Messenger* / genetics
  • RNA, Messenger* / metabolism

Substances

  • Phosphoproteins
  • RNA Splicing Factors
  • RNA, Messenger
  • SF3B1 protein, human