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  The landscape of human mutually exclusive splicing.

Hatje, K., Rahman, R. U., Vidal, R. O., Hammesfahr, B., Bansal, V., Rajput, A., et al. (2017). The landscape of human mutually exclusive splicing. Molecular Systems Biology, 13(12): 959. doi:10.15252/msb.20177728.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002E-8F7C-0 Version Permalink: http://hdl.handle.net/21.11116/0000-0001-2704-F
Genre: Journal Article

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 Creators:
Hatje, K., Author
Rahman, R. U., Author
Vidal, R. O., Author
Hammesfahr, B., Author
Bansal, V., Author
Rajput, A., Author
Mickael, M. E., Author
Sun, T., Author
Bonn, S., Author
Kollmar, M.1, Author              
Affiliations:
1Research Group of Systems Biology of Motor Proteins, MPI for biophysical chemistry, Max Planck Society, ou_578570              

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Free keywords: Alternative splicing; Differential expression; Mutually exclusive splicing; Splicing mechanisms
 Abstract: Mutually exclusive splicing of exons is a mechanism of functional gene and protein diversification with pivotal roles in organismal development and diseases such as Timothy syndrome, cardiomyopathy and cancer in humans. In order to obtain a first genomewide estimate of the extent and biological role of mutually exclusive splicing in humans, we predicted and subsequently validated mutually exclusive exons (MXEs) using 515 publically available RNA‐Seq datasets. Here, we provide evidence for the expression of over 855 MXEs, 42% of which represent novel exons, increasing the annotated human mutually exclusive exome more than fivefold. The data provide strong evidence for the existence of large and multi‐cluster MXEs in higher vertebrates and offer new insights into MXE evolution. More than 82% of the MXE clusters are conserved in mammals, and five clusters have homologous clusters in Drosophila. Finally, MXEs are significantly enriched in pathogenic mutations and their spatio‐temporal expression might predict human disease pathology.

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Language(s): eng - English
 Dates: 2017-12-01
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.15252/msb.20177728
 Degree: -

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Title: Molecular Systems Biology
Source Genre: Journal
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Pages: 19 Volume / Issue: 13 (12) Sequence Number: 959 Start / End Page: - Identifier: -