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

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…

• NS
  National Science Foundation

  Awards: DBI-1350041, R01-HG006677, 1350041
• WT
  Wellcome Trust

  Awards: 095598/Z/11/Z, 095598
• SN
  Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

  Awards: 150654, BB/M015009/1
• NI
  National Institutes of Health

  Awards: R01-HG006677, HG006677
• MR
  Medical Research Council

  Award: MR/L012561/1
• EA
  Engineering and Physical Sciences Research Council

  Award: EP/F500351/1
• BA
  Biotechnology and Biological Sciences Research Council

  Award: BB/M015009/1