Journal
NATURE COMMUNICATIONS
Volume 8, Issue -, Pages -Publisher
NATURE PORTFOLIO
DOI: 10.1038/ncomms14061
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Funding
- UCL Faculty of Life Science Dean s summer studentship
- Swiss National Science Foundation [150654]
- UK BBSRC [BB/M015009/1]
- National Science Foundation [DBI-1350041]
- National Institutes of Health [R01-HG006677]
- Wellcome Trust [095598/Z/11/Z]
- Royal Society Wolfson Research Merit Award
- EPSRC Centre for Doctoral Training studentship at UCL CoMPLEX [EP/F500351/1]
- BBSRC [BB/M015009/1] Funding Source: UKRI
- MRC [MR/L012561/1] Funding Source: UKRI
- Div Of Biological Infrastructure
- Direct For Biological Sciences [1627442] Funding Source: National Science Foundation
- Engineering and Physical Sciences Research Council [1487527] Funding Source: researchfish
- Medical Research Council [MR/L012561/1] Funding Source: researchfish
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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 wine-making, 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.
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