Nature Communications (Sep 2018)

Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia

  • Yusuke Shiozawa,
  • Luca Malcovati,
  • Anna Gallì,
  • Aiko Sato-Otsubo,
  • Keisuke Kataoka,
  • Yusuke Sato,
  • Yosaku Watatani,
  • Hiromichi Suzuki,
  • Tetsuichi Yoshizato,
  • Kenichi Yoshida,
  • Masashi Sanada,
  • Hideki Makishima,
  • Yuichi Shiraishi,
  • Kenichi Chiba,
  • Eva Hellström-Lindberg,
  • Satoru Miyano,
  • Seishi Ogawa,
  • Mario Cazzola

DOI
https://doi.org/10.1038/s41467-018-06063-x
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 16

Abstract

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Mutations to the splicing machinery may have an important role in myelodysplasia. Here, the authors describe splicing factor gene mutations in myelodysplasia and report tumor suppressor, epigenetic, iron metabolism and heme biosynthesis genes as their targets.