Berget, S. M., Moore, C. & Sharp, P. A. Spliced segments at the 5′ terminus of adenovirus 2 late mRNA. Proc. Natl Acad. Sci. USA 74, 3171–3175 (1977).
Article CAS PubMed PubMed Central Google Scholar
Chow, L. T., Gelinas, R. E., Broker, T. R. & Roberts, R. J. An amazing sequence arrangement at the 5′ ends of adenovirus 2 messenger RNA. Cell 12, 1–8 (1977).
Article CAS PubMed Google Scholar
Pan, Q., Shai, O., Lee, L. J., Frey, B. J. & Blencowe, B. J. Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nat. Genet. 40, 1413–1415 (2008).
Article CAS PubMed Google Scholar
Wang, E. T. et al. Alternative isoform regulation in human tissue transcriptomes. Nature 456, 470–476 (2008).
Article CAS PubMed PubMed Central Google Scholar
Kjer-Hansen, P. & Weatheritt, R. J. The function of alternative splicing in the proteome: rewiring protein interactomes to put old functions into new contexts. Nat. Struct. Mol. Biol. 30, 1844–1856 (2023).
Article CAS PubMed Google Scholar
Marasco, L. E. & Kornblihtt, A. R. The physiology of alternative splicing. Nat. Rev. Mol. Cell Biol. 24, 242–254 (2023).
Article CAS PubMed Google Scholar
Boise, L. H. et al. bcl-x, a bcl-2-related gene that functions as a dominant regulator of apoptotic cell death. Cell 74, 597–608 (1993).
Article CAS PubMed Google Scholar
Cascino, I., Fiucci, G., Papoff, G. & Ruberti, G. Three functional soluble forms of the human apoptosis-inducing Fas molecule are produced by alternative splicing. J. Immunol. 154, 2706–2713 (1995).
Article CAS PubMed Google Scholar
Ueda, H. et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423, 506–511 (2003).
Article CAS PubMed Google Scholar
Li, X. et al. A splicing switch from ketohexokinase-C to ketohexokinase-A drives hepatocellular carcinoma formation. Nat. Cell Biol. 18, 561–571 (2016).
Article CAS PubMed PubMed Central Google Scholar
Han, H. et al. MBNL proteins repress ES-cell-specific alternative splicing and reprogramming. Nature 498, 241–245 (2013).
Article CAS PubMed PubMed Central Google Scholar
Bradley, R. K. & Anczukow, O. RNA splicing dysregulation and the hallmarks of cancer. Nat. Rev. Cancer 23, 135–155 (2023).
Article CAS PubMed PubMed Central Google Scholar
Climente-Gonzalez, H., Porta-Pardo, E., Godzik, A. & Eyras, E. The functional impact of alternative splicing in cancer. Cell Rep. 20, 2215–2226 (2017).
Article CAS PubMed Google Scholar
Jayasinghe, R. G. et al. Systematic analysis of splice-site-creating mutations in cancer. Cell Rep. 23, 270–281.e3 (2018).
Article CAS PubMed PubMed Central Google Scholar
Hanahan, D. Hallmarks of cancer: new dimensions. Cancer Discov. 12, 31–46 (2022).
Article CAS PubMed Google Scholar
Berg, P., Baltimore, D., Brenner, S., Roblin, R. O. & Singer, M. F. Summary statement of the Asilomar conference on recombinant DNA molecules. Proc. Natl Acad. Sci. USA 72, 1981–1984 (1975).
Article CAS PubMed PubMed Central Google Scholar
Papaemmanuil, E. et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N. Engl. J. Med. 365, 1384–1395 (2011).
Article CAS PubMed PubMed Central Google Scholar
Yoshida, K. et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478, 64–69 (2011).
Article CAS PubMed Google Scholar
Graubert, T. A. et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat. Genet. 44, 53–57 (2011).
Article PubMed PubMed Central Google Scholar
Wang, L. et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N. Engl. J. Med. 365, 2497–2506 (2011). Together with Papaemmanuil et al. (2011) and Yoshida et al. (2011), this work reveals that, in haematologic malignancies, multiple splicing factors accumulate mutations at rates comparable with those of well-established cancer drivers.
Article CAS PubMed PubMed Central Google Scholar
Seiler, M. et al. Somatic mutational landscape of splicing factor genes and their functional consequences across 33 cancer types. Cell Rep. 23, 282–296.e4 (2018).
Article CAS PubMed PubMed Central Google Scholar
Alsafadi, S. et al. Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage. Nat. Commun. 7, 10615 (2016).
Article CAS PubMed PubMed Central Google Scholar
Darman, R. B. et al. Cancer-associated SF3B1 hotspot mutations induce cryptic 3′ splice site selection through use of a different branch point. Cell Rep. 13, 1033–1045 (2015).
Article CAS PubMed Google Scholar
Brooks, A. N. et al. A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events. PLoS ONE 9, e87361 (2014). This study is one of the first to establish direct associations between splicing factor mutations in cancer and alterations in splicing events.
Article PubMed PubMed Central Google Scholar
Ilagan, J. O. et al. U2AF1 mutations alter splice site recognition in hematological malignancies. Genome Res. 25, 14–26 (2015).
Article CAS PubMed PubMed Central Google Scholar
Kim, E. et al. SRSF2 mutations contribute to myelodysplasia by mutant-specific effects on exon recognition. Cancer Cell 27, 617–630 (2015). This study documents the specificity in the downstream effects of splicing factor mutations.
Article CAS PubMed PubMed Central Google Scholar
Chen, S., Benbarche, S. & Abdel-Wahab, O. Splicing factor mutations in hematologic malignancies. Blood 138, 599–612 (2021).
Article CAS PubMed PubMed Central Google Scholar
Inoue, D. et al. Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition. Nat. Genet. 53, 707–718 (2021).
Article CAS PubMed PubMed Central Google Scholar
Chathoth, K. T., Barrass, J. D., Webb, S. & Beggs, J. D. A splicing-dependent transcriptional checkpoint associated with prespliceosome formation. Mol. Cell 53, 779–790 (2014).
Article CAS PubMed PubMed Central Google Scholar
Lin, S., Coutinho-Mansfield, G., Wang, D., Pandit, S. & Fu, X. D. The splicing factor SC35 has an active role in transcriptional elongation. Nat. Struct. Mol. Biol. 15, 819–826 (2008).
留言 (0)