The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point
Open accessAbstract
Recurrent mutations in the spliceosome are observed in several human cancers, but their functional and therapeutic significance remains elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of the branch point sequence (BPS) during selection of the 3' splice site (ss) in RNA splicing. Here, we report that common and tumor-specific splicing aberrations are induced by SF3B1 mutations and establish aberrant 3' ss selection as the most frequent splicing defect. Strikingly, mutant SF3B1 utilizes a BPS that differs from that used by wild-type SF3B1 and requires the canonical 3' ss to enable aberrant splicing during the second step. Approximately 50% of the aberrantly spliced mRNAs are subjected to nonsense-mediated decay resulting in downregulation of gene and protein expression. These findings ascribe functional significance to the consequences of SF3B1 mutations in cancer.
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Cites
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes
Initiative, A. P. C. G., Biankin, A. V., Waddell, N., Kassahn, K. S., Gingras, M.-C., Muthuswamy, L. B., Johns, A. L., Miller, D. K., Wilson, P. J., Patch, A.-M., et al. (2012) · Nature · doi:10.1038/nature11547 · Cited by 2,058
Frequent pathway mutations of splicing machinery in myelodysplasia
Yoshida, K., Sanada, M., Shiraishi, Y., Nowak, D., Nagata, Y., Yamamoto, R., Sato, Y., Sato-Otsubo, A., Kon, A., Nagasaki, M., et al. (2011) · Nature · doi:10.1038/nature10496 · Cited by 2,029
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia
Landau, D. A., Carter, S. L., Stojanov, P., McKenna, A., Stevenson, K., Lawrence, M. S., Sougnez, C., Stewart, C., Sivachenko, A., Wang, L., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.019 · Cited by 1,379
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
Papaemmanuil, E., Cazzola, M., Boultwood, J., Malcovati, L., Vyas, P., Bowen, D., Pellagatti, A., Wainscoat, J. S., Hellstrom-Lindberg, E., Gambacorti-Passerini, C., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1103283 · Cited by 1,222
A day in the life of the spliceosome
Matera, A. G., & Wang, Z. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3742 · Cited by 1,074
SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition
Kim, E., Ilagan, J. O., Liang, Y., Daubner, G. M., Lee, S. C.-W., Ramakrishnan, A., Li, Y., Chung, Y. R., Micol, J.-B., Murphy, M. E., et al. (2015) · Cancer Cell · doi:10.1016/j.ccell.2015.04.006 · Cited by 575
Self-citationNMD: a multifaceted response to premature translational termination
Kervestin, S., & Jacobson, A. (2012) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3454 · Cited by 572
Kalyna, M., Simpson, C. G., Syed, N. H., Lewandowska, D., Marquez, Y., Kusenda, B., Marshall, J., Fuller, J., Cardle, L., McNicol, J., et al. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr932 · Cited by 480
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts
Malcovati, L., Karimi, M., Papaemmanuil, E., Ambaglio, I., Jädersten, M., Jansson, M., Elena, C., Gallì, A., Walldin, G., Della Porta, M. G., et al. (2015) · Blood · doi:10.1182/blood-2015-03-633537 · Cited by 434
Effect of predicted protein-truncating genetic variants on the human transcriptome
Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science · doi:10.1126/science.1261877 · Cited by 313
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RNA splicing dysregulation and the hallmarks of cancer
Bradley, R. K., & Anczuków, O. (2023) · Nature Reviews Cancer · doi:10.1038/s41568-022-00541-7 · Cited by 579
Therapeutic targeting of splicing in cancer
Lee, S. C.-W., & Abdel-Wahab, O. (2016) · Nature Medicine · doi:10.1038/nm.4165 · Cited by 561
Urbanski, L. M., Leclair, N., & Anczuków, O. (2018) · WIREs RNA · doi:10.1002/wrna.1476 · Cited by 389
Obeng, E. A., Chappell, R. J., Seiler, M., Chen, M. C., Campagna, D. R., Schmidt, P. J., Schneider, R. K., Lord, A. M., Wang, L., Gambe, R. G., et al. (2016) · Cancer Cell · doi:10.1016/j.ccell.2016.08.006 · Cited by 380
Metadata
- Authors
- Darman, R. B., Seiler, M., Agrawal, A. A., Lim, K. H., Peng, S., Aird, D., Bailey, S. L., Bhavsar, E. B., Chan, B., Colla, S., Corson, L., Feala, J., Fekkes, P., Ichikawa, K., Keaney, G. F., Lee, L., Kumar, P., Kunii, K., MacKenzie, C., Matijevic, M., Mizui, Y., Myint, K., Park, E. S., Puyang, X., Selvaraj, A., Thomas, M. P., Tsai, J., Wang, J. Y., Warmuth, M., Yang, H., Zhu, P., Garcia-Manero, G., Furman, R. R., Yu, L., Smith, P. G., & Buonamici, S.
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2015-11
- Volume
- 13
- Issue
- 5
- Pages
- 1033-1045
- ISSN
- 2211-1247 (ISSN-L)
- OpenAlex
- W2193225046
- Cited by
- 453
- References
- 13
- FWCI
- 14.02
- Type
- journal article
- Language
- en
- Open access
- gold
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- CoChat. (2026). Citation check: Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point. https://app.cochat.ai/papers/10.1016/j.celrep.2015.09.053
- The paper
- Darman, R. B., Seiler, M., Agrawal, A. A., Lim, K. H., Peng, S., Aird, D., Bailey, S. L., Bhavsar, E. B., Chan, B., Colla, S., Corson, L., Feala, J., Fekkes, P., Ichikawa, K., Keaney, G. F., Lee, L., Kumar, P., Kunii, K., MacKenzie, C., . . . Buonamici, S. (2015). Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point. Cell Reports. https://doi.org/10.1016/j.celrep.2015.09.053
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
