Article
Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia.
Nature communications - 7 Sept 2018
Shiozawa Yusuke, Malcovati Luca, Gallì Anna, Sato-Otsubo Aiko, Kataoka Keisuke, Sato Yusuke, Watatani Yosaku, Suzuki Hiromichi, Yoshizato Tetsuichi, Yoshida Kenichi, Sanada Masashi, Makishima Hideki, Shiraishi Yuichi, Chiba Kenichi, Hellström-Lindberg Eva, Miyano Satoru, Ogawa Seishi, Cazzola Mario
Abstract excerpt
Spliceosome mutations are frequently found in myelodysplasia. Splicing alterations induced by these mutations, their precise targets, and the effect at the transcript level have not been fully elucidated. Here we report transcriptomic analyses of 265 bone marrow samples from myelodysplasia patients, followed by a validation using CRISPR/Cas9-mediated gene editing and an assessment of nonsense-mediated decay...
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