The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Disease-associated mutation in SRSF2 misregulates splicing by altering RNA-binding affinities
Open accessAbstract
Significance: Mutations in genes encoding proteins that function in splicing of mRNA precursors occur frequently in myelodysplastic syndromes (MDS) and certain leukemias. However, the mechanism by which the mutated splicing factors function has begun to be elucidated only recently. Here we use genome-editing techniques to introduce a common MDS mutation in the gene Serine/arginine-rich splicing factor 2 ( SRSF2 ), which encodes an RNA-binding splicing regulator, in cultured blood cells. We show that splicing of several hundred transcripts, including some with possible relevance to disease, is altered. We further show that mutant SRSF2 is sufficient to induce these changes and does so by binding to RNA sequence elements in the misregulated mRNAs with altered specificity.
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Cites
HTSeq—a Python framework to work with high-throughput sequencing data
Anders, S., Pyl, P. T., & Huber, W. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btu638 · Cited by 21,464
Kim, D., Pertea, G., Trapnell, C., Pimentel, H., Kelley, R., & Salzberg, S. L. (2013) · Genome Biology · doi:10.1186/gb-2013-14-4-r36 · Cited by 12,668
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
Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
Haferlach, T., Nagata, Y., Grossmann, V, Okuno, Y., Bacher, U., Nagae, G., Schnittger, S., Sanada, M., Kon, A., Alpermann, T., et al. (2014) · Leukemia · doi:10.1038/leu.2013.336 · Cited by 1,532
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
Cited by
Scotti, M. M., & Swanson, M. S. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2015.3 · Cited by 1,163
Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma
Robertson, A. G., Shih, J., Yau, C., Gibb, E. A., Oba, J., Mungall, K. L., Hess, J. M., Uzunangelov, V., Walter, V., Danilova, L., et al. (2017) · Cancer Cell · doi:10.1016/j.ccell.2017.07.003 · Cited by 887
Self-citationRoles and mechanisms of alternative splicing in cancer — implications for care
Bonnal, S. C., López-Oreja, I., & Valcárcel, J. (2020) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-020-0350-x · Cited by 731
RNA splicing factors as oncoproteins and tumour suppressors
Dvinge, H., Kim, E., Abdel-Wahab, O., & Bradley, R. K. (2016) · Nature Reviews Cancer · doi:10.1038/nrc.2016.51 · Cited by 687
Therapeutic targeting of splicing in cancer
Lee, S. C.-W., & Abdel-Wahab, O. (2016) · Nature Medicine · doi:10.1038/nm.4165 · Cited by 561
Metadata
- Authors
- Zhang, J., Lieu, Y. K., Ali, A. M., Penson, A., Reggio, K. S., Rabadan, R., Raza, A., Mukherjee, S., & Manley, J. L.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2015-08-10
- Volume
- 112
- Issue
- 34
- Pages
- E4726-34
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1915661113
- Cited by
- 208
- References
- 5
- FWCI
- 8.23
- Type
- journal article
- Language
- en
- Open access
- green
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- Zhang, J., Lieu, Y. K., Ali, A. M., Penson, A., Reggio, K. S., Rabadan, R., Raza, A., Mukherjee, S., & Manley, J. L. (2015). Disease-associated mutation in SRSF2 misregulates splicing by altering RNA-binding affinities. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1514105112
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