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
Affiliations
- Yusuke Shiozawa
- Department of Pediatrics, The University of Tokyo
- Luca Malcovati
- Department of Molecular Medicine, University of Pavia
- Anna Gallì
- Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo & University of Pavia
- Aiko Sato-Otsubo
- Department of Pathology and Tumor Biology, Kyoto University
- Keisuke Kataoka
- Department of Pathology and Tumor Biology, Kyoto University
- Yusuke Sato
- Department of Pathology and Tumor Biology, Kyoto University
- Yosaku Watatani
- Department of Pathology and Tumor Biology, Kyoto University
- Hiromichi Suzuki
- Department of Pathology and Tumor Biology, Kyoto University
- Tetsuichi Yoshizato
- Department of Pathology and Tumor Biology, Kyoto University
- Kenichi Yoshida
- Department of Pathology and Tumor Biology, Kyoto University
- Masashi Sanada
- Department of Advanced Diagnosis, Clinical Research Center, Nagoya Medical Center
- Hideki Makishima
- Department of Pathology and Tumor Biology, Kyoto University
- Yuichi Shiraishi
- Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo
- Kenichi Chiba
- Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo
- Eva Hellström-Lindberg
- Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet
- Satoru Miyano
- Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, The University of Tokyo
- Seishi Ogawa
- Department of Pathology and Tumor Biology, Kyoto University
- Mario Cazzola
- Department of Molecular Medicine, University of Pavia
- DOI
- https://doi.org/10.1038/s41467-018-06063-x
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 16
Abstract
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.