Cited by 2,029RNA Research and SplicingAcute Myeloid Leukemia ResearchGenomics and Rare Diseases

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Frequent pathway mutations of splicing machinery in myelodysplasia

Yoshida, Kenichi, Sanada, Masashi, Shiraishi, Yuichi, Nowak, Daniel, Nagata, Yasunobu, Yamamoto, Ryo, Sato, Yusuke, Sato-Otsubo, Aiko, Kon, Ayana, Nagasaki, Masao, Chalkidis, George, Suzuki, Yutaka, Shiosaka, Masashi, Kawahata, Ryoichiro, Yamaguchi, Tomoyuki, Otsu, Makoto, Obara, Naoshi, Sakata-Yanagimoto, Mamiko, Ishiyama, Ken, Mori, Hiraku, Nolte, Florian, Hofmann, Wolf-Karsten, Miyawaki, Shuichi, Sugano, Sumio, Haferlach, Claudia, Koeffler, H. Phillip, Shih, Lee-Yung, Haferlach, Torsten, Chiba, Shigeru, Nakauchi, Hiromitsu, Miyano, Satoru, Ogawa, Seishi·2011·Nature

DOI 10.1038/nature10496

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Abstract

Myelodysplastic syndromes and related disorders (myelodysplasia) are a heterogeneous group of myeloid neoplasms showing deregulated blood cell production with evidence of myeloid dysplasia and a predisposition to acute myeloid leukaemia, whose pathogenesis is only incompletely understood. Here we report whole-exome sequencing of 29 myelodysplasia specimens, which unexpectedly revealed novel pathway mutations involving multiple components of the RNA splicing machinery, including U2AF35, ZRSR2, SRSF2 and SF3B1. In a large series analysis, these splicing pathway mutations were frequent (∼45 to ∼85%) in, and highly specific to, myeloid neoplasms showing features of myelodysplasia. Conspicuously, most of the mutations, which occurred in a mutually exclusive manner, affected genes involved in the 3'-splice site recognition during pre-mRNA processing, inducing abnormal RNA splicing and compromised haematopoiesis. Our results provide the first evidence indicating that genetic alterations of the major splicing components could be involved in human pathogenesis, also implicating a novel therapeutic possibility for myelodysplasia.

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Authors: Yoshida, K., Sanada, M., Shiraishi, Y., Nowak, D., Nagata, Y., Yamamoto, R., Sato, Y., Sato-Otsubo, A., Kon, A., Nagasaki, M., Chalkidis, G., Suzuki, Y., Shiosaka, M., Kawahata, R., Yamaguchi, T., Otsu, M., Obara, N., Sakata-Yanagimoto, M., Ishiyama, K., Mori, H., Nolte, F., Hofmann, W.-K., Miyawaki, S., Sugano, S., Haferlach, C., Koeffler, H. P., Shih, L.-Y., Haferlach, T., Chiba, S., Nakauchi, H., Miyano, S., & Ogawa, S.
Affiliations: The University of Tokyo (JP)
Institute of Medical Science, The University of Tokyo (JP)
Heidelberg University (DE)
Japan Science and Technology Agency (JP)
University of Tsukuba (JP)
Tokyo Metropolitan Ohtsuka Hospital (JP)
SHOWA Medical University Fujigaoka Hospital (JP)
Munich Leukemia Laboratory (Germany) (DE)
Cedars-Sinai Medical Center (US)
Chang Gung University (TW)
Corresponding author: Ogawa, Seishi
ORCID: Yoshida, Kenichi
Sanada, Masashi
Shiraishi, Yuichi
Nowak, Daniel
Nagata, Yasunobu
Sato, Yusuke
Kon, Ayana
Nagasaki, Masao
Suzuki, Yutaka
Yamaguchi, Tomoyuki
Otsu, Makoto
Obara, Naoshi
Ishiyama, Ken
Nolte, Florian
Miyawaki, Shuichi
Sugano, Sumio
Haferlach, Claudia
Koeffler, H. Phillip
Shih, Lee-Yung
Haferlach, Torsten
Chiba, Shigeru
Nakauchi, Hiromitsu
Miyano, Satoru
Ogawa, Seishi
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2011-09-11
Volume: 478
Issue: 7367
Pages: 64-69
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature10496
OpenAlex: W2073889874
Cited by: 2,029
References: 37
Citations by year: 2026: 71 · 2025: 76 · 2024: 121 · 2023: 101 · 2022: 139 · 2021: 160 · 2020: 148 · 2019: 135 · 2018: 135 · 2017: 148 · 2016: 146 · 2015: 145 · 2014: 173 · 2013: 171 · 2012: 135
FWCI: 64.98
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
National University of Singapore (submittedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Funders: Japan Society for the Promotion of Science (22390191, 23791075, 22790895, 23659533, 23659482, 23390269, 23791068, 22659058)
National Cancer Institute (R01CA026038)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: myelodysplastic syndrome, splicing mutation, U2AF35, ZRSR2, SRSF2, SF3B1, 3' splice site recognition, pre-mRNA splicing, hematopoiesis, acute myeloid leukemia, myeloid neoplasms, aberrant splicing, therapeutic target
MeSH terms: Splicing Factor U2AF, Hematopoiesis, Humans, Mutation, Myelodysplastic Syndromes, Nuclear Proteins, Ribonucleoproteins, RNA Splicing, Spliceosomes, Alternative Splicing, Polymorphism, Single Nucleotide, RNA Splice Sites, Exome

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Frequent pathway mutations of splicing machinery in myelodysplasia

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