Pre-mRNA splicing-associated diseases and therapies
Precursor mRNA (pre-mRNA) splicing is an essential step in human gene expression and is carried out by a large macromolecular machine called the spliceosome. Given the spliceosome's role in shaping the cellular transcriptome, it is not surprising that mutations in the splicing machinery can res...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2023-12-01
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| Series: | RNA Biology |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/15476286.2023.2239601 |
| _version_ | 1827595100446785536 |
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| author | Sierra L. Love Joseph D. Emerson Kazunori Koide Aaron A. Hoskins |
| author_facet | Sierra L. Love Joseph D. Emerson Kazunori Koide Aaron A. Hoskins |
| author_sort | Sierra L. Love |
| collection | DOAJ |
| description | Precursor mRNA (pre-mRNA) splicing is an essential step in human gene expression and is carried out by a large macromolecular machine called the spliceosome. Given the spliceosome's role in shaping the cellular transcriptome, it is not surprising that mutations in the splicing machinery can result in a range of human diseases and disorders (spliceosomopathies). This review serves as an introduction into the main features of the pre-mRNA splicing machinery in humans and how changes in the function of its components can lead to diseases ranging from blindness to cancers. Recently, several drugs have been developed that interact directly with this machinery to change splicing outcomes at either the single gene or transcriptome-scale. We discuss the mechanism of action of several drugs that perturb splicing in unique ways. Finally, we speculate on what the future may hold in the emerging area of spliceosomopathies and spliceosome-targeted treatments. |
| first_indexed | 2024-03-09T02:46:54Z |
| format | Article |
| id | doaj.art-ffa85d3a02b74e05a7d837128a80011d |
| institution | Directory Open Access Journal |
| issn | 1547-6286 1555-8584 |
| language | English |
| last_indexed | 2024-03-09T02:46:54Z |
| publishDate | 2023-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | RNA Biology |
| spelling | doaj.art-ffa85d3a02b74e05a7d837128a80011d2023-12-05T16:09:52ZengTaylor & Francis GroupRNA Biology1547-62861555-85842023-12-0120152553810.1080/15476286.2023.22396012239601Pre-mRNA splicing-associated diseases and therapiesSierra L. Love0Joseph D. Emerson1Kazunori Koide2Aaron A. Hoskins3University of Wisconsin-MadisonUniversity of PittsburghUniversity of PittsburghUniversity of Wisconsin-MadisonPrecursor mRNA (pre-mRNA) splicing is an essential step in human gene expression and is carried out by a large macromolecular machine called the spliceosome. Given the spliceosome's role in shaping the cellular transcriptome, it is not surprising that mutations in the splicing machinery can result in a range of human diseases and disorders (spliceosomopathies). This review serves as an introduction into the main features of the pre-mRNA splicing machinery in humans and how changes in the function of its components can lead to diseases ranging from blindness to cancers. Recently, several drugs have been developed that interact directly with this machinery to change splicing outcomes at either the single gene or transcriptome-scale. We discuss the mechanism of action of several drugs that perturb splicing in unique ways. Finally, we speculate on what the future may hold in the emerging area of spliceosomopathies and spliceosome-targeted treatments.http://dx.doi.org/10.1080/15476286.2023.2239601spliceosomepre-mrna splicingcancersmaspliceosomopathysf3b1snrnasplicing inhibitorsplicing modulator |
| spellingShingle | Sierra L. Love Joseph D. Emerson Kazunori Koide Aaron A. Hoskins Pre-mRNA splicing-associated diseases and therapies RNA Biology spliceosome pre-mrna splicing cancer sma spliceosomopathy sf3b1 snrna splicing inhibitor splicing modulator |
| title | Pre-mRNA splicing-associated diseases and therapies |
| title_full | Pre-mRNA splicing-associated diseases and therapies |
| title_fullStr | Pre-mRNA splicing-associated diseases and therapies |
| title_full_unstemmed | Pre-mRNA splicing-associated diseases and therapies |
| title_short | Pre-mRNA splicing-associated diseases and therapies |
| title_sort | pre mrna splicing associated diseases and therapies |
| topic | spliceosome pre-mrna splicing cancer sma spliceosomopathy sf3b1 snrna splicing inhibitor splicing modulator |
| url | http://dx.doi.org/10.1080/15476286.2023.2239601 |
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