The landscape of human mutually exclusive splicing
2017 | journal article. A publication with affiliation to the University of Göttingen.
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- Authors
- Hatje, Klas; Rahman, Raza-Ur ; Vidal, Ramon O. ; Simm, Dominic ; Hammesfahr, Björn; Bansal, Vikas; Rajput, Ashish ; Mickael, Michel Edwar; Sun, Ting; Bonn, Stefan ; Kollmar, Martin
- 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.
- Issue Date
- 2017
- Journal
- Molecular systems biology
- ISSN
- 1744-4292; 1744-4292; 1744-4292
- eISSN
- 1744-4292
- Language
- English