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Sequence variation ...
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing
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Ferreira, Pedro G. (författare)
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Oti, Martin (författare)
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Barann, Matthias (författare)
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Wieland, Thomas (författare)
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Ezquina, Suzana (författare)
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- Friedländer, Marc R. (författare)
- Stockholms universitet,Institutionen för molekylär biovetenskap, Wenner-Grens institut,Science for Life Laboratory (SciLifeLab)
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Rivas, Manuel A. (författare)
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Esteve-Codina, Anna (författare)
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Rosenstiel, Philip (författare)
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Strom, Tim M. (författare)
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Lappalainen, Tuuli (författare)
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Guigo, Roderic (författare)
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Sammeth, Michael (författare)
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(creator_code:org_t)
- 2016-09-12
- 2016
- Engelska.
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6
- Relaterad länk:
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https://doi.org/10.1...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Recent advances in the cost-efficiency of sequencing technologies enabled the combined DNA-and RNA-sequencing of human individuals at the population-scale, making genome-wide investigations of the inter-individual genetic impact on gene expression viable. Employing mRNA-sequencing data from the Geuvadis Project and genome sequencing data from the 1000 Genomes Project we show that the computational analysis of DNA sequences around splice sites and poly-A signals is able to explain several observations in the phenotype data. In contrast to widespread assessments of statistically significant associations between DNA polymorphisms and quantitative traits, we developed a computational tool to pinpoint the molecular mechanisms by which genetic markers drive variation in RNA-processing, cataloguing and classifying alleles that change the affinity of core RNA elements to their recognizing factors. The in silico models we employ further suggest RNA editing can moonlight as a splicing-modulator, albeit less frequently than genomic sequence diversity. Beyond existing annotations, we demonstrate that the ultra-high resolution of RNA-Seq combined from 462 individuals also provides evidence for thousands of bona fide novel elements of RNA processing-alternative splice sites, introns, and cleavage sites-which are often rare and lowly expressed but in other characteristics similar to their annotated counterparts.
Ämnesord
- NATURVETENSKAP -- Biologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences (hsv//eng)
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Ferreira, Pedro ...
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Oti, Martin
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Barann, Matthias
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Wieland, Thomas
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Ezquina, Suzana
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Friedländer, Mar ...
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visa fler...
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Rivas, Manuel A.
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Esteve-Codina, A ...
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Rosenstiel, Phil ...
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Strom, Tim M.
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Lappalainen, Tuu ...
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Guigo, Roderic
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Sammeth, Michael
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visa färre...
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Scientific Repor ...
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Stockholms universitet