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The landscape of human mutually exclusive splicing

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The landscape of human mutually exclusive splicing. / 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.

in: MOL SYST BIOL, Jahrgang 13, Nr. 12, 959, 14.12.2017.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Hatje, K, Rahman, R-U, Vidal, RO, Simm, D, Hammesfahr, B, Bansal, V, Rajput, A, Mickael, ME, Sun, T, Bonn, S & Kollmar, M 2017, 'The landscape of human mutually exclusive splicing', MOL SYST BIOL, Jg. 13, Nr. 12, 959. https://doi.org/10.15252/msb.20177728

APA

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. (2017). The landscape of human mutually exclusive splicing. MOL SYST BIOL, 13(12), [959]. https://doi.org/10.15252/msb.20177728

Vancouver

Hatje K, Rahman R-U, Vidal RO, Simm D, Hammesfahr B, Bansal V et al. The landscape of human mutually exclusive splicing. MOL SYST BIOL. 2017 Dez 14;13(12). 959. https://doi.org/10.15252/msb.20177728

Bibtex

@article{4645337c2bfd4ffb9e64c5eed5119c9f,
title = "The landscape of human mutually exclusive splicing",
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.",
keywords = "Animals, Cluster Analysis, Disease/genetics, Evolution, Molecular, Exons/genetics, Genetic Loci, Genome, Human, Humans, Mammals/genetics, Mutation/genetics, Protein Folding, RNA Splicing/genetics, RNA, Messenger/genetics",
author = "Klas Hatje and Raza-Ur Rahman and Vidal, {Ramon O} and Dominic Simm and Bj{\"o}rn Hammesfahr and Vikas Bansal and Ashish Rajput and Mickael, {Michel Edwar} and Ting Sun and Stefan Bonn and Martin Kollmar",
note = "{\textcopyright} 2017 The Authors. Published under the terms of the CC BY 4.0 license.",
year = "2017",
month = dec,
day = "14",
doi = "10.15252/msb.20177728",
language = "English",
volume = "13",
number = "12",

}

RIS

TY - JOUR

T1 - The landscape of human mutually exclusive splicing

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

N1 - © 2017 The Authors. Published under the terms of the CC BY 4.0 license.

PY - 2017/12/14

Y1 - 2017/12/14

N2 - 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.

AB - 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.

KW - Animals

KW - Cluster Analysis

KW - Disease/genetics

KW - Evolution, Molecular

KW - Exons/genetics

KW - Genetic Loci

KW - Genome, Human

KW - Humans

KW - Mammals/genetics

KW - Mutation/genetics

KW - Protein Folding

KW - RNA Splicing/genetics

KW - RNA, Messenger/genetics

U2 - 10.15252/msb.20177728

DO - 10.15252/msb.20177728

M3 - SCORING: Journal article

C2 - 29242366

VL - 13

IS - 12

M1 - 959

ER -