Evidence map›Paper›PMID 28117401›Full record

ArticleNature communications2017

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

Daniel C Jeffares, Clemency Jolly, Mimoza Hoti, Doug Speed, Liam Shaw, Charalampos Rallis, Francois Balloux, Christophe Dessimoz, Jürg Bähler, Fritz J Sedlazeck

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 524 papers.

0numbers the graph read from it
0cells of the map it votes in
524citing papers in PubMed
16.8field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

524 citing papers in PubMed, 907 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article

464 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 3 countries.

Daniel C JeffaresDepartment of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.ORCID 0000-0001-7320-0706
Clemency JollyDepartment of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.
Mimoza HotiDepartment of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.
Doug SpeedUCL Genetics Institute, University College London, London WC1E 6BT, UK.ORCID 0000-0002-0096-9765
Liam ShawDepartment of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.
Charalampos RallisDepartment of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.
Francois BallouxDepartment of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.ORCID 0000-0003-1978-7715
Christophe DessimozDepartment of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.
Jürg BählerDepartment of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK.
Fritz J SedlazeckDepartment of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA.ORCID 0000-0001-6040-2691
University College London · GBJohns Hopkins University · USSIB Swiss Institute of Bioinformatics · CH

Funding

Computational Methods for Genome Assembly, Transcript Assembly, and Variant DiscoveryR01HG006677 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI SALZBERG, STEVEN L. · 2011 to 2025
$10.7M
NHGRI NIH HHS R01 HG006677Wellcome Trust
6 · The paper itself

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.

Indexed as

Quantitative Trait, HeritableReproductive IsolationChromosome InversionChromosomes, FungalDNA Copy Number VariationsEvolution, MolecularGene Expression Regulation, FungalGenome, FungalSchizosaccharomycesTranslocation, Genetic

Identifiers

PMID28117401
PMCPMC5286201
OpenAlexW2582800429

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.