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| Item Type: | Article |
|---|---|
| Title: | Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation |
| Creators Name: | Wang, Y. and Gogol-Döring, A. and Hu, H. and Fröhler, S. and Ma, Y. and Jens, M. and Maaskola, J. and Murakawa, Y. and Quedenau, C. and Landthaler, M. and Kalscheuer, V. and Wieczorek, D. and Wang, Y. and Hu, Y. and Chen, W. |
| Abstract: | RBM10 encodes an RNA binding protein. Mutations in RBM10 are known to cause multiple congenital anomaly syndrome in male humans, the TARP syndrome. However, the molecular function of RBM10 is unknown. Here we used PAR-CLIP to identify thousands of binding sites of RBM10 and observed significant RBM10-RNA interactions in the vicinity of splice sites. Computational analyses of binding sites as well as loss-of-function and gain-of-function experiments provided evidence for the function of RBM10 in regulating exon skipping and suggested an underlying mechanistic model, which could be subsequently validated by minigene experiments. Furthermore, we demonstrated the splicing defects in a patient carrying an RBM10 mutation, which could be explained by disrupted function of RBM10 in splicing regulation. Overall, our study established RBM10 as an important regulator of alternative splicing, presented a mechanistic model for RBM10-mediated splicing regulation and provided a molecular link to understanding a human congenital disorder. |
| Keywords: | RBM10, Alternative Splicing, Mechanistic Model |
| Source: | EMBO Molecular Medicine |
| ISSN: | 1757-4676 |
| Publisher: | EMBO Press / Wiley |
| Volume: | 5 |
| Number: | 9 |
| Page Range: | 1431-1442 |
| Date: | September 2013 |
| Official Publication: | https://doi.org/10.1002/emmm.201302663 |
| PubMed: | View item in PubMed |
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