PT  - JOURNAL ARTICLE
AU  - Jeffares, Daniel C.
AU  - Jolly, Clemency
AU  - Hoti, Mimoza
AU  - Speed, Doug
AU  - Rallis, Charalampos
AU  - Dessimoz, Christophe
AU  - Bähler, Jürg
AU  - Sedlazeck, Fritz J.
TI  - Transient structural variations alter gene expression and quantitative traits in <em>Schizosaccharomyces pombe</em>
AID  - 10.1101/047266
DP  - 2016 Jan 01
TA  - bioRxiv
PG  - 047266
4099  - http://biorxiv.org/content/early/2016/04/13/047266.short
4100  - http://biorxiv.org/content/early/2016/04/13/047266.full
AB  - The effects of structural variants on phenotypic diversity and evolution are poorly understood. We recently described genetic and phenotypic variation among fission yeast strains and showed that genome-wide association studies are informative in this model. Here we extend this work by systematically identifying structural variations and investigating their consequences. We establish a curated catalog of copy number variants (CNVs) and rearrangements, including inversions and translocations. We show that CNVs substantially contribute to quantitative traits such as cell shape, cell growth under diverse conditions, sugar utilization in winemaking and antibiotic resistance, whereas rearrangements are strongly associated with reproductive isolation but contribute less to quantitative traits. We find that CNVs frequently vary within clonal populations and are weakly tagged by SNPs, consistent with rapid turnover, and produce measurable effects on gene expression both within and outside the repeated regions. Collectively, these findings have broad implications for evolution and for our understanding of quantitative traits and complex human diseases.