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

Author

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  • Daniel C. Jeffares

    (Evolution and Environment, University College London
    UCL Genetics Institute, University College London
    Present address: Department of Biology, University of York, York YO105DD, UK)

  • 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
    UCL Genetics Institute, University College London)

  • Charalampos Rallis

    (Evolution and Environment, University College London
    UCL Genetics Institute, University College London
    Present address: School of Health, Sport and Biosciences, University of East London, London E15 4LZ, UK)

  • Francois Balloux

    (Evolution and Environment, University College London
    UCL Genetics Institute, University College London)

  • Christophe Dessimoz

    (Evolution and Environment, University College London
    University College London
    University of Lausanne
    Swiss Institute of Bioinformatics)

  • Jürg Bähler

    (Evolution and Environment, University College London
    UCL Genetics Institute, University College London)

  • Fritz J. Sedlazeck

    (Johns Hopkins University)

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.

Suggested Citation

  • Daniel C. Jeffares & Clemency Jolly & Mimoza Hoti & Doug Speed & Liam Shaw & Charalampos Rallis & Francois Balloux & Christophe Dessimoz & Jürg Bähler & Fritz J. Sedlazeck, 2017. "Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast," Nature Communications, Nature, vol. 8(1), pages 1-11, April.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms14061
    DOI: 10.1038/ncomms14061
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