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

• Published in: Nature communications Vol. 8; no. 1; pp. 14061 - 11
• Main Authors: Jeffares, Daniel C., Jolly, Clemency, Hoti, Mimoza, Speed, Doug, Shaw, Liam, Rallis, Charalampos, Balloux, Francois, Dessimoz, Christophe, Bähler, Jürg, Sedlazeck, Fritz J.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 24-01-2017; Nature Publishing Group; Nature Portfolio
• Subjects: 38/61; 631/114/2785; 631/208/212; 631/208/480; 631/208/726/649/2157; Chromosome Inversion - genetics; Chromosomes, Fungal - genetics; Computer science; DNA Copy Number Variations - genetics; Evolution; Evolution, Molecular; Gene expression; Gene Expression Regulation, Fungal; Genetic engineering; Genome, Fungal - genetics; Genomes; Genomics; Humanities and Social Sciences; multidisciplinary; Quantitative Trait, Heritable; Reproductive Isolation; RNA polymerase; Schizosaccharomyces - genetics; Science; Science (multidisciplinary); Translocation, Genetic - genetics; University colleges; Yeast; United Kingdom > UK; Switzerland
• ISSN: 2041-1723; 2041-1723
• DOI: 10.1038/ncomms14061

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.
Fission yeast
Schizosaccharomyces pombe
has diverse traits. Jeffares
et al
. characterize large copy number variations (CNVs) and rearrangements in
S. pombe
, and show that CNVs are transient with effects on quantitative traits and gene expression, whereas rearrangements influence intrinsic reproductive isolation.