RT Journal Article
SR Electronic
T1 Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 047266
DO 10.1101/047266
A1 Jeffares, Daniel C.
A1 Jolly, Clemency
A1 Hoti, Mimoza
A1 Speed, Doug
A1 Shaw, Liam
A1 Rallis, Charalampos
A1 Balloux, Francois
A1 Dessimoz, Christophe
A1 Bähler, Jürg
A1 Sedlazeck, Fritz J.
YR 2016
UL http://biorxiv.org/content/early/2016/10/03/047266.abstract
AB Large structural variations (SVs) in the genome are harder to identify than smaller genetic variants but may substantially contribute to phenotypic diversity and evolution. Here we analyze the effects of SVs on gene expression, quantitative traits, and intrinsic reproductive isolation in the yeast Schizosaccharomyces pombe. We establish a high-quality curated catalog 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) frequently segregate within closely related clonal populations, are weakly linked to single nucleotide polymorphisms (SNPs), and show other 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 such as cell shape, cell growth under diverse conditions, 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.