Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome

Nat Commun. 2015 Jan 14:6:6042. doi: 10.1038/ncomms7042.

Abstract

Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise role in RNA splicing has remained unclear. Here we characterize ZRSR2 as an essential component of the minor spliceosome (U12 dependent) assembly. shRNA-mediated knockdown of ZRSR2 leads to impaired splicing of the U12-type introns and RNA-sequencing of MDS bone marrow reveals that loss of ZRSR2 activity causes increased mis-splicing. These splicing defects involve retention of the U12-type introns, while splicing of the U2-type introns remain mostly unaffected. ZRSR2-deficient cells also exhibit reduced proliferation potential and distinct alterations in myeloid and erythroid differentiation in vitro. These data identify a specific role for ZRSR2 in RNA splicing and highlight dysregulated splicing of U12-type introns as a characteristic feature of ZRSR2 mutations in MDS.

Publication types

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

MeSH terms

  • Alternative Splicing*
  • Animals
  • Antigens, CD34 / metabolism
  • Base Sequence
  • Bone Marrow Cells / cytology
  • Cell Differentiation
  • Cell Proliferation
  • Exons
  • Female
  • Genomics
  • Humans
  • Introns
  • K562 Cells
  • Mice
  • Mice, Inbred NOD
  • Mice, SCID
  • Molecular Sequence Data
  • Mutation*
  • Myelodysplastic Syndromes / genetics*
  • Neoplasm Transplantation
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • RNA, Small Nuclear*
  • Ribonucleoproteins / genetics*
  • Ribonucleoproteins / metabolism
  • Spliceosomes

Substances

  • Antigens, CD34
  • Nuclear Proteins
  • RNA, Small Nuclear
  • Ribonucleoproteins
  • U12 small nuclear RNA
  • ZRSR2 protein, human

Associated data

  • GEO/GSE63816