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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number14061
Number of pages11
JournalNature Communications
Publication statusPublished - 24 Jan 2017

Bibliographical note

The Author(s), 2017.


  • Chromosome Inversion/genetics
  • Chromosomes, Fungal/genetics
  • DNA Copy Number Variations/genetics
  • Evolution, Molecular
  • Gene Expression Regulation, Fungal
  • Genome, Fungal/genetics
  • Quantitative Trait, Heritable
  • Reproductive Isolation
  • Schizosaccharomyces/genetics
  • Translocation, Genetic/genetics

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