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

Jeffares, Daniel C and Jolly, Clemency and Hoti, Mimoza and Speed, Doug and Shaw, Liam and Rallis, Charalampos and Balloux, Francois and Dessimoz, Christophe and Bähler, Jürg and Sedlazeck, Fritz J (2017) 'Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast.' Nature Communications, 8 (1). 14061-. ISSN 2041-1723

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Abstract

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.

Item Type: Article
Uncontrolled 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
Divisions: Faculty of Science and Health
Faculty of Science and Health > Life Sciences, School of
SWORD Depositor: Elements
Depositing User: Elements
Date Deposited: 18 Jun 2021 15:24
Last Modified: 18 Aug 2022 10:48
URI: http://repository.essex.ac.uk/id/eprint/26698

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