PT  - JOURNAL ARTICLE
AU  - Daniel C. Jeffares
AU  - Clemency Jolly
AU  - Mimoza Hoti
AU  - Doug Speed
AU  - Liam Shaw
AU  - Charalampos Rallis
AU  - Francois Balloux
AU  - Christophe Dessimoz
AU  - Jürg Bähler
AU  - Fritz J. Sedlazeck
TI  - Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast
AID  - 10.1101/047266
DP  - 2016 Jan 01
TA  - bioRxiv
PG  - 047266
4099  - http://biorxiv.org/content/early/2016/10/03/047266.short
4100  - http://biorxiv.org/content/early/2016/10/03/047266.full
AB  - Large structural variations (SVs) in the genome are harder to identify than smaller genetic variants but may substantially contribute to phenotypic diversity and evolution. Here we analyze the effects of SVs on gene expression, quantitative traits, and intrinsic reproductive isolation in the yeast Schizosaccharomyces pombe. We establish a high-quality curated catalog 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) frequently segregate within closely related clonal populations, are weakly linked to single nucleotide polymorphisms (SNPs), and show other 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 such as cell shape, cell growth under diverse conditions, 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.