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The landscape of human mutually exclusive splicing

Klas Hatje, View ORCID ProfileRamon O. Vidal, View ORCID ProfileRaza-Ur Rahman, Dominic Simm, Björn Hammesfahr, Orr Shomroni, View ORCID ProfileStefan Bonn, View ORCID ProfileMartin Kollmar
doi: https://doi.org/10.1101/133215
Klas Hatje
1Group of Systems Biology of Motor Proteins, Department of NMR-based Structural Biology, Max-Planck-Institute for Biophysical Chemistry, Göttingen, Germany
2Group of Computational Systems Biology, German Center for Neurodegenerative Diseases, Göttingen, Germany
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Ramon O. Vidal
2Group of Computational Systems Biology, German Center for Neurodegenerative Diseases, Göttingen, Germany
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Raza-Ur Rahman
2Group of Computational Systems Biology, German Center for Neurodegenerative Diseases, Göttingen, Germany
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Dominic Simm
1Group of Systems Biology of Motor Proteins, Department of NMR-based Structural Biology, Max-Planck-Institute for Biophysical Chemistry, Göttingen, Germany
3Theoretical Computer Science and Algorithmic Methods, Institute of Computer Science, Georg-August-University Göttingen, Germany
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Björn Hammesfahr
1Group of Systems Biology of Motor Proteins, Department of NMR-based Structural Biology, Max-Planck-Institute for Biophysical Chemistry, Göttingen, Germany
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Orr Shomroni
2Group of Computational Systems Biology, German Center for Neurodegenerative Diseases, Göttingen, Germany
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Stefan Bonn
2Group of Computational Systems Biology, German Center for Neurodegenerative Diseases, Göttingen, Germany
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Martin Kollmar
1Group of Systems Biology of Motor Proteins, Department of NMR-based Structural Biology, Max-Planck-Institute for Biophysical Chemistry, Göttingen, Germany
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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 genome-wide 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 five-fold. The data provides strong evidence for the existence of large and multi-cluster MXEs in higher vertebrates and offers new insights into MXE splicing mechanics and evolution. Finally, MXEs are significantly enriched in pathogenic mutations and their spatio-temporal expression predicts human disease pathology.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license.
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Posted May 02, 2017.
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The landscape of human mutually exclusive splicing
Klas Hatje, Ramon O. Vidal, Raza-Ur Rahman, Dominic Simm, Björn Hammesfahr, Orr Shomroni, Stefan Bonn, Martin Kollmar
bioRxiv 133215; doi: https://doi.org/10.1101/133215
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The landscape of human mutually exclusive splicing
Klas Hatje, Ramon O. Vidal, Raza-Ur Rahman, Dominic Simm, Björn Hammesfahr, Orr Shomroni, Stefan Bonn, Martin Kollmar
bioRxiv 133215; doi: https://doi.org/10.1101/133215

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