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

TY - JOUR

T1 - Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast.

AU - Jeffares, Daniel C

AU - Jolly, Clemency

AU - Hoti, Mimoza

AU - Speed, Doug

AU - Shaw, Liam

AU - Rallis, Charalampos

AU - Balloux, Francois

AU - Dessimoz, Christophe

AU - Bähler, Jürg

AU - Sedlazeck, Fritz J

N1 - The Author(s), 2017.

PY - 2017/1/24

Y1 - 2017/1/24

N2 - 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.

AB - 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.

KW - Chromosome Inversion/genetics

KW - Chromosomes, Fungal/genetics

KW - DNA Copy Number Variations/genetics

KW - Evolution, Molecular

KW - Gene Expression Regulation, Fungal

KW - Genome, Fungal/genetics

KW - Quantitative Trait, Heritable

KW - Reproductive Isolation

KW - Schizosaccharomyces/genetics

KW - Translocation, Genetic/genetics

UR - http://www.scopus.com/inward/record.url?scp=85010962157&partnerID=8YFLogxK

U2 - 10.1038/ncomms14061

DO - 10.1038/ncomms14061

M3 - Article

C2 - 28117401

SN - 2041-1723

VL - 8

JO - Nature Communications

JF - Nature Communications

M1 - 14061

ER -