Evidence map›Paper›PMID 28199302›Full record

ArticleNature2017

Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy.

H Diego Folco, Venkata R Chalamcharla, Tomoyasu Sugiyama, Gobi Thillainadesan, Martin Zofall, Vanivilasini Balachandran, Jothy Dhakshnamoorthy, Takeshi Mizuguchi, Shiv I S Grewal

Open access · greenAbstract read
In one paragraph

Article in Nature, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
2.2field-weighted citation impact, top 12% 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

31 citing papers in PubMed, 36 citations in OpenAlex.

  1. Article
  2. Meiotic cohesin Rec8 imposes fitness costs on fission yeast gametes favoring the evolution of parental bias in gene expression.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  3. Article
  4. Article
  5. Article
  6. Heterochromatin in plant meiosis.Nucleus (Austin, Tex.) · 2024
    Review
  7. Article
  8. Review
  9. Ectopic expression of meiotic cohesin generates chromosome instability in cancer cell line.Proceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  10. Review
  11. Cyclins and CDKs in the regulation of meiosis-specific events.Frontiers in cell and developmental biology · 2022
    Review
  12. Review
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
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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

9 authors at 2 institutions in 1 country.

H Diego FolcoLaboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Venkata R ChalamcharlaLaboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Tomoyasu SugiyamaLaboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Gobi ThillainadesanLaboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Martin ZofallLaboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Vanivilasini BalachandranLaboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Jothy DhakshnamoorthyLaboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Takeshi MizuguchiLaboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Shiv I S GrewalLaboratory of Biochemistry and Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
National Institutes of Health · USNational Cancer Institute · US

Funding

Roles of Chromatin-modifying Factors in Epigenetic Control of the GenomeZIABC011208 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI GREWAL, SHIVINDER S · 2009 to 2025
$28.1M
Intramural NIH HHS Z99 CA999999
6 · The paper itself

Abstract

Uniparental disomy (UPD), in which an individual contains a pair of homologous chromosomes originating from only one parent, is a frequent phenomenon that is linked to congenital disorders and various cancers. UPD is thought to result mostly from pre- or post-zygotic chromosome missegregation. However, the factors that drive UPD remain unknown. Here we use the fission yeast Schizosaccharomyces pombe as a model to investigate UPD, and show that defects in the RNA interference (RNAi) machinery or in the YTH domain-containing RNA elimination factor Mmi1 cause high levels of UPD in vegetative diploid cells. This phenomenon is not due to defects in heterochromatin assembly at centromeres. Notably, in cells lacking RNAi components or Mmi1, UPD is associated with the untimely expression of gametogenic genes. Deletion of the upregulated gene encoding the meiotic cohesin Rec8 or the cyclin Crs1 suppresses UPD in both RNAi and mmi1 mutants. Moreover, overexpression of Rec8 is sufficient to trigger UPD in wild-type cells. Rec8 expressed in vegetative cells localizes to chromosomal arms and to the centromere core, where it is required for localization of the cohesin subunit Psc3. The centromeric localization of Rec8 and Psc3 promotes UPD by uniquely affecting chromosome segregation, causing a reductional segregation of one homologue. Together, these findings establish the untimely vegetative expression of gametogenic genes as a causative factor of UPD, and provide a solid foundation for understanding this phenomenon, which is linked to diverse human diseases.

Indexed as

Gene Expression Regulation, FungalModels, BiologicalMutationCentromereChromosomal Proteins, Non-HistoneChromosome SegregationCohesinsCyclinsDiploidyGerm CellsHeterochromatinHumansMeiosismRNA Cleavage and Polyadenylation FactorsPhosphoproteinsRNA InterferenceChromosomal Proteins, Non-HistoneCohesinsCrs1 protein, S pombeCyclinsHeterochromatinMmi1 protein, S pombemRNA Cleavage and Polyadenylation FactorsPhosphoproteinspsc3 protein, S pombeREC8 protein, S pombeSchizosaccharomyces pombe Proteins

Identifiers

PMID28199302
PMCPMC5567995
OpenAlexW2588691895

What OpenQuestion holds

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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.