Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.

Chimeric RNAs originating from two or more different genes are known to exist not only in cancer, but also in normal tissues, where they can play a role in human evolution. However, the exact mechanism of their formation is unknown. Here, we use RNA sequencing data from 462 healthy individuals repre...

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Main Authors: Liliana Greger, Jing Su, Johan Rung, Pedro G Ferreira, Geuvadis consortium, Tuuli Lappalainen, Emmanouil T Dermitzakis, Alvis Brazma
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4136775?pdf=render
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author Liliana Greger
Jing Su
Johan Rung
Pedro G Ferreira
Geuvadis consortium
Tuuli Lappalainen
Emmanouil T Dermitzakis
Alvis Brazma
author_facet Liliana Greger
Jing Su
Johan Rung
Pedro G Ferreira
Geuvadis consortium
Tuuli Lappalainen
Emmanouil T Dermitzakis
Alvis Brazma
author_sort Liliana Greger
collection DOAJ
description Chimeric RNAs originating from two or more different genes are known to exist not only in cancer, but also in normal tissues, where they can play a role in human evolution. However, the exact mechanism of their formation is unknown. Here, we use RNA sequencing data from 462 healthy individuals representing 5 human populations to systematically identify and in depth characterize 81 RNA tandem chimeric transcripts, 13 of which are novel. We observe that 6 out of these 81 chimeras have been regarded as cancer-specific. Moreover, we show that a prevalence of long introns at the fusion breakpoint is associated with the chimeric transcripts formation. We also find that tandem RNA chimeras have lower abundances as compared to their partner genes. Finally, by combining our results with genomic data from the same individuals we uncover intronic genetic variants associated with the chimeric RNA formation. Taken together our findings provide an important insight into the chimeric transcripts formation and open new avenues of research into the role of intronic genetic variants in post-transcriptional processing events.
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spelling doaj.art-cdbb4614928d4e84a8f09bcb288c95862022-12-21T18:38:12ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0198e10456710.1371/journal.pone.0104567Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.Liliana GregerJing SuJohan RungPedro G FerreiraGeuvadis consortiumTuuli LappalainenEmmanouil T DermitzakisAlvis BrazmaChimeric RNAs originating from two or more different genes are known to exist not only in cancer, but also in normal tissues, where they can play a role in human evolution. However, the exact mechanism of their formation is unknown. Here, we use RNA sequencing data from 462 healthy individuals representing 5 human populations to systematically identify and in depth characterize 81 RNA tandem chimeric transcripts, 13 of which are novel. We observe that 6 out of these 81 chimeras have been regarded as cancer-specific. Moreover, we show that a prevalence of long introns at the fusion breakpoint is associated with the chimeric transcripts formation. We also find that tandem RNA chimeras have lower abundances as compared to their partner genes. Finally, by combining our results with genomic data from the same individuals we uncover intronic genetic variants associated with the chimeric RNA formation. Taken together our findings provide an important insight into the chimeric transcripts formation and open new avenues of research into the role of intronic genetic variants in post-transcriptional processing events.http://europepmc.org/articles/PMC4136775?pdf=render
spellingShingle Liliana Greger
Jing Su
Johan Rung
Pedro G Ferreira
Geuvadis consortium
Tuuli Lappalainen
Emmanouil T Dermitzakis
Alvis Brazma
Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.
PLoS ONE
title Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.
title_full Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.
title_fullStr Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.
title_full_unstemmed Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.
title_short Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.
title_sort tandem rna chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants
url http://europepmc.org/articles/PMC4136775?pdf=render
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