Splicing factor mutations and cancer
Open accessAbstract
Recent advances in high‐throughput sequencing technologies have unexpectedly revealed that somatic mutations of splicing factor genes frequently occurred in several types of hematological malignancies, including myelodysplastic syndromes, other myeloid neoplasms, and chronic lymphocytic leukemia. Splicing factor mutations have also been reported in solid cancers such as breast and pancreatic cancers, uveal melanomas, and lung adenocarcinomas. These mutations were heterozygous and mainly affected U2AF1 (U2AF35), SRSF2 (SC35), SF3B1 (SF3B155 or SAP155), and ZRSR2 (URP), which are engaged in the initial steps of RNA splicing, including 3′ splice‐site recognition, and occur in a large mutually exclusive pattern, suggesting a common impact of these mutations on RNA splicing. In this study, splicing factor mutations in various types of cancers, their functional/biological effects, and their potential as therapeutic targets have been reviewed. WIREs RNA 2014, 5:445–459. doi: 10.1002/wrna.1222 This article is categorized under: RNA Processing > Splicing Mechanisms
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In myelodysplastic syndromes, mutations in several components of the core splicing apparatus cause very specific splicing defects in particular transcripts and lead to a highly tissue-specific phenotype.
“mutations in several components of the core splicing apparatus, such as U2 small nuclear ribonucleoprotein auxiliary factor 2 (U2AF65), splicing factor 3B, subunit 1 (SF3B1) and other proteins, were found to cause very specific splicing defects in particular transcripts and to lead to a highly tissue-specific phenotype185–187.”
From The neurogenetics of alternative splicing (2016) · cites this paper as [187]
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- Authors
- Yoshida, K., & Ogawa, S.
- Affiliations
- Kyoto University (JP)
- Corresponding author
- Ogawa, Seishi
- Venue
- WIREs RNA
- Publisher
- Wiley
- Published
- 2014-02-12
- Volume
- 5
- Issue
- 4
- Pages
- 445-459
- ISSN
- 1757-7004 (ISSN-L)
- 1757-7012
- OpenAlex
- W1712134185
- Cited by
- 155
- References
- 88
- Citations by year
- 2026: 3 · 2025: 11 · 2024: 11 · 2023: 15 · 2022: 8 · 2021: 22 · 2020: 23 · 2019: 14 · 2018: 6 · 2017: 8 · 2016: 17 · 2015: 9 · 2014: 8
- FWCI
- 1.32
- Type
- journal article
- Language
- en
- Open access
- Locations
- Wiley Interdisciplinary Reviews - RNA (publishedVersion)
- PubMed (publishedVersion)
- Institutional Repositories DataBase (IRDB) (submittedVersion)
- Kyoto University Research Information Repository (Kyoto University) (submittedVersion)
- Funders
- Grants-in-Aid from the Ministry of Health, Labor and Welfare of Japan and KAKENHI (22134006)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer-related molecular mechanisms research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
- Keywords
- splicing factor mutations, somatic mutations, RNA splicing, U2AF1, SRSF2, SF3B1, ZRSR2, 3' splice site recognition, myelodysplastic syndrome, myeloid neoplasms, chronic lymphocytic leukemia, breast cancer, pancreatic cancer, uveal melanoma, lung adenocarcinoma, cancer therapy targets, mutually exclusive mutations
- MeSH terms
- Humans, Mutation, Neoplasms, Ribonucleoproteins, RNA Splicing, High-Throughput Nucleotide Sequencing
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