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  Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation

Wang, Y., Gogol-Doring, A., Hu, H., Frohler, S., Ma, Y., Jens, M., et al. (2013). Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Molecular Medicine, 5(9), 1431-1442. doi:10.1002/emmm.201302663.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-E945-6 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-E948-F
Genre: Journal Article

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© 2013 The Authors. Published by John Wiley and Sons, Ltd on behalf of EMBO
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 Creators:
Wang, Y., Author
Gogol-Doring, A., Author
Hu, H.1, Author              
Frohler, S., Author
Ma, Y., Author
Jens, M., Author
Maaskola, J., Author
Murakawa, Y., Author
Quedenau, C., Author
Landthaler, M., Author
Kalscheuer, V.2, Author              
Wieczorek, D., Author
Wang, Y., Author
Hu, Y., Author
Chen, W.1, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: RBM10, alternative splicing, mechanistic model
 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.

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Language(s): eng - English
 Dates: 2013-08-222013-09
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1002/emmm.201302663
ISSN: 1757-4684 (Electronic)1757-4676 (Print)
URI: http://www.ncbi.nlm.nih.gov/pubmed/24000153
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Title: EMBO Molecular Medicine
  Abbreviation : EMBO Mol Med
Source Genre: Journal
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Publ. Info: John Wiley and Sons, Ltd
Pages: - Volume / Issue: 5 (9) Sequence Number: - Start / End Page: 1431 - 1442 Identifier: -