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Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast

View ORCID ProfileDaniel C. Jeffares, Clemency Jolly, Mimoza Hoti, Doug Speed, Liam Shaw, Charalampos Rallis, Francois Balloux, Christophe Dessimoz, Jürg Bähler, Fritz J. Sedlazeck
doi: https://doi.org/10.1101/047266
Daniel C. Jeffares
1Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom
2UCL Genetics Institute, University College London, London WC1E 6BT, United Kingdom
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  • ORCID record for Daniel C. Jeffares
Clemency Jolly
1Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom
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Mimoza Hoti
1Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom
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Doug Speed
2UCL Genetics Institute, University College London, London WC1E 6BT, United Kingdom
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Liam Shaw
1Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom
2UCL Genetics Institute, University College London, London WC1E 6BT, United Kingdom
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Charalampos Rallis
1Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom
2UCL Genetics Institute, University College London, London WC1E 6BT, United Kingdom
3Current address: School of Health, Sport and Biosciences, University of East London, London E15 4LZ, United Kingdom
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Francois Balloux
1Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom
2UCL Genetics Institute, University College London, London WC1E 6BT, United Kingdom
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Christophe Dessimoz
1Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom
4Department of Computer Science, University College London, London WC1E 6BT, United Kingdom
5Department of Ecology and Evolution & Center for Integrative Genomics, University of Lausanne, Biophore, 1015 Lausanne, Switzerland
6Swiss Institute of Bioinformatics, Biophore, 1015 Lausanne, Switzerland
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  • For correspondence: christophe.dessimoz@unil.ch j.bahler@ucl.ac.uk fritz.sedlazeck@jhu.edu
Jürg Bähler
1Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, United Kingdom
2UCL Genetics Institute, University College London, London WC1E 6BT, United Kingdom
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  • For correspondence: christophe.dessimoz@unil.ch j.bahler@ucl.ac.uk fritz.sedlazeck@jhu.edu
Fritz J. Sedlazeck
7Department of Computer Science, Johns Hopkins University, 21218 Baltimore, USA
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  • For correspondence: christophe.dessimoz@unil.ch j.bahler@ucl.ac.uk fritz.sedlazeck@jhu.edu
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Abstract

Large structural variations (SVs) in the genome are harder to identify than smaller genetic variants but may substantially contribute to phenotypic diversity and evolution. Here we analyze the effects of SVs on gene expression, quantitative traits, and intrinsic reproductive isolation in the yeast Schizosaccharomyces pombe. We establish a high-quality curated catalog of SVs in the genomes of a worldwide library of S. pombe strains, including duplications, deletions, inversions and translocations. We show that copy number variants (CNVs) frequently segregate within closely related clonal populations, are weakly linked to single nucleotide polymorphisms (SNPs), and show other genetic signals consistent with rapid turnover. These transient CNVs produce stoichiometric effects on gene expression both within and outside the duplicated regions. CNVs make substantial contributions to quantitative traits such as cell shape, cell growth under diverse conditions, sugar utilization in winemaking, whereas rearrangements are strongly associated with reproductive isolation. Collectively, these findings have broad implications for evolution and for our understanding of quantitative traits including complex human diseases.

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Posted October 03, 2016.
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Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast
Daniel C. Jeffares, Clemency Jolly, Mimoza Hoti, Doug Speed, Liam Shaw, Charalampos Rallis, Francois Balloux, Christophe Dessimoz, Jürg Bähler, Fritz J. Sedlazeck
bioRxiv 047266; doi: https://doi.org/10.1101/047266
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Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast
Daniel C. Jeffares, Clemency Jolly, Mimoza Hoti, Doug Speed, Liam Shaw, Charalampos Rallis, Francois Balloux, Christophe Dessimoz, Jürg Bähler, Fritz J. Sedlazeck
bioRxiv 047266; doi: https://doi.org/10.1101/047266

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