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 () and Fritz J. Sedlazeck ()
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Daniel C. Jeffares: Evolution and Environment, University College London
Clemency Jolly: Evolution and Environment, University College London
Mimoza Hoti: Evolution and Environment, University College London
Doug Speed: UCL Genetics Institute, University College London
Liam Shaw: Evolution and Environment, University College London
Charalampos Rallis: Evolution and Environment, University College London
Francois Balloux: Evolution and Environment, University College London
Christophe Dessimoz: Evolution and Environment, University College London
Jürg Bähler: Evolution and Environment, University College London
Fritz J. Sedlazeck: Johns Hopkins University

Nature Communications, 2017, vol. 8, issue 1, 1-11

Abstract: Abstract Large structural variations (SVs) within genomes are more challenging to identify than smaller genetic variants but may substantially contribute to phenotypic diversity and evolution. We analyse the effects of SVs on gene expression, quantitative traits and intrinsic reproductive isolation in the yeast Schizosaccharomyces pombe. We establish a high-quality curated catalogue 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) show a variety of 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, most notably intracellular amino acid concentrations, growth under stress and 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.

Date: 2017
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DOI: 10.1038/ncomms14061

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