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Nat Commun. 2017 Jan 24;8:14061. doi: 10.1038/ncomms14061.

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

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Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.
UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Department of Computer Science, University College London, London WC1E 6BT, UK.
Department of Ecology and Evolution and Center for Integrative Genomics, University of Lausanne, Biophore, Lausanne 1015, Switzerland.
Swiss Institute of Bioinformatics, Biophore, Lausanne 1015, Switzerland.
Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA.


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.

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