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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 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.

Original publication

DOI

10.1038/ncomms14061

Type

Journal article

Journal

Nature communications

Publication Date

01/2017

Volume

8

Addresses

Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.

Keywords

Chromosomes, Fungal, Schizosaccharomyces, Translocation, Genetic, Evolution, Molecular, Gene Expression Regulation, Fungal, Quantitative Trait, Heritable, Genome, Fungal, Chromosome Inversion, DNA Copy Number Variations, Reproductive Isolation