Open Access
Open access
Molecular Systems Biology, volume 13, issue 12, pages 959

The landscape of human mutually exclusive splicing

Hatje Klas 1, 2
Rahman Raza Ur 1, 3
Vidal Ramon O 1
Simm Dominic 2, 4
Hammesfahr Björn 2
Bansal Vikas 1, 3
Rajput Ashish 1, 3
Mickael Michel Edwar 1, 3
Sun Ting 1, 3
Bonn Stefan 1, 3, 5
Kollmar Martin 2
1
 
Group of Computational Systems Biology German Center for Neurodegenerative Diseases Göttingen Germany
2
 
Group Systems Biology of Motor Proteins Department of NMR‐Based Structural Biology Max‐Planck‐Institute for Biophysical Chemistry Göttingen Germany
3
 
Center for Molecular Neurobiology Institute of Medical Systems Biology University Clinic Hamburg‐Eppendorf Hamburg Germany
4
 
Theoretical Computer Science and Algorithmic Methods Institute of Computer Science Georg‐August‐University Göttingen Germany
5
 
German Center for Neurodegenerative Diseases Tübingen Germany
Publication typeJournal Article
Publication date2017-12-15
Quartile SCImago
Q1
Quartile WOS
Q1
Impact factor9.9
ISSN17444292
General Biochemistry, Genetics and Molecular Biology
General Agricultural and Biological Sciences
General Immunology and Microbiology
Computational Theory and Mathematics
Information Systems
Applied Mathematics
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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GOST |
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GOST Copy
Hatje K. et al. The landscape of human mutually exclusive splicing // Molecular Systems Biology. 2017. Vol. 13. No. 12. p. 959.
GOST all authors (up to 50) Copy
Hatje K., Rahman R. U., Vidal R. O., Simm D., Hammesfahr B., Bansal V., Rajput A., Mickael M. E., Sun T., Bonn S., Kollmar M. The landscape of human mutually exclusive splicing // Molecular Systems Biology. 2017. Vol. 13. No. 12. p. 959.
RIS |
Cite this
RIS Copy
TY - JOUR
DO - 10.15252/msb.20177728
UR - https://doi.org/10.15252%2Fmsb.20177728
TI - The landscape of human mutually exclusive splicing
T2 - Molecular Systems Biology
AU - Hatje, Klas
AU - Rahman, Raza Ur
AU - Vidal, Ramon O
AU - Simm, Dominic
AU - Hammesfahr, Björn
AU - Bansal, Vikas
AU - Rajput, Ashish
AU - Mickael, Michel Edwar
AU - Sun, Ting
AU - Bonn, Stefan
AU - Kollmar, Martin
PY - 2017
DA - 2017/12/15 00:00:00
PB - Wiley
SP - 959
IS - 12
VL - 13
PMID - 29242366
SN - 1744-4292
ER -
BibTex |
Cite this
BibTex Copy
@article{2017_Hatje
author = {Klas Hatje and Raza Ur Rahman and Ramon O Vidal and Dominic Simm and Björn Hammesfahr and Vikas Bansal and Ashish Rajput and Michel Edwar Mickael and Ting Sun and Stefan Bonn and Martin Kollmar},
title = {The landscape of human mutually exclusive splicing},
journal = {Molecular Systems Biology},
year = {2017},
volume = {13},
publisher = {Wiley},
month = {dec},
url = {https://doi.org/10.15252%2Fmsb.20177728},
number = {12},
pages = {959},
doi = {10.15252/msb.20177728}
}
MLA
Cite this
MLA Copy
Hatje, Klas, et al. “The landscape of human mutually exclusive splicing.” Molecular Systems Biology, vol. 13, no. 12, Dec. 2017, p. 959. https://doi.org/10.15252%2Fmsb.20177728.
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