Evidence map›Paper›PMID 40908343›Full record

ArticleNature genetics2025

DNA methylation influences human centromere positioning and function.

Catalina Salinas-Luypaert, Danilo Dubocanin, Rosa Jooyoung Lee, Lorena Andrade Ruiz, Riccardo Gamba, Marine Grison, Leonid Velikovsky, Annapaola Angrisani, Andrea Scelfo, Yuan Xu and 12 more

Abstract read
In one paragraph

Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
–field-weighted citation impact
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

17 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. HOROSCOPE: Decoding human centromere architecture from short reads usingbioRxiv : the preprint server for biology · 2026
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. 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

22 authors.

Catalina Salinas-LuypaertInstitut Curie, PSL Research University, Sorbonne Université, CNRS, UMR144 and UMR3664, Paris, France.ORCID http://orcid.org/0000-0003-1194-4536
Danilo Dubocanin *Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0000-0003-0330-5814
Rosa Jooyoung Lee *Department of Genetics, School of Medicine, Stanford University, Stanford, CA, USA.ORCID http://orcid.org/0009-0009-0553-4451
Lorena Andrade RuizOncode Institute, Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW) and University Medical Center Utrecht, Utrecht, the Netherlands.
Riccardo GambaInstitut Curie, PSL Research University, Sorbonne Université, CNRS, UMR144 and UMR3664, Paris, France.
Marine GrisonInstitut Curie, PSL Research University, Sorbonne Université, CNRS, UMR144 and UMR3664, Paris, France.
Leonid VelikovskyInstitut Curie, PSL Research University, Sorbonne Université, CNRS, UMR144 and UMR3664, Paris, France.
Annapaola AngrisaniInstitut Curie, PSL Research University, Sorbonne Université, CNRS, UMR144 and UMR3664, Paris, France.
Andrea ScelfoInstitut Curie, PSL Research University, Sorbonne Université, CNRS, UMR144 and UMR3664, Paris, France.
Yuan XuUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.
Marie DumontInstitut Curie, PSL Research University, Sorbonne Université, CNRS, UMR144 and UMR3664, Paris, France.
Viviana BarraInstitut Curie, PSL Research University, Sorbonne Université, CNRS, UMR144 and UMR3664, Paris, France.ORCID http://orcid.org/0000-0002-7186-4485
Therese WilhelmInstitut Curie, PSL Research University, Sorbonne Université, CNRS, UMR144 and UMR3664, Paris, France.
Guillaume VelascoEpigénétique et Destin Cellulaire, Université de Paris Cité, CNRS, UMR7216, Paris, France.
Marialucrezia LositoEuropean Research Institute for the Biology of Ageing (ERIBA), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
René WardenaarEuropean Research Institute for the Biology of Ageing (ERIBA), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID http://orcid.org/0000-0001-9891-1897
Claire FrancastelEpigénétique et Destin Cellulaire, Université de Paris Cité, CNRS, UMR7216, Paris, France.ORCID http://orcid.org/0000-0002-6353-4320
Floris FoijerEuropean Research Institute for the Biology of Ageing (ERIBA), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID http://orcid.org/0000-0003-0989-3127
Geert J P L KopsOncode Institute, Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences (KNAW) and University Medical Center Utrecht, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0003-3555-5295
Karen H MigaUC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA.ORCID http://orcid.org/0000-0002-3670-4507
Nicolas AltemoseDepartment of Genetics, School of Medicine, Stanford University, Stanford, CA, USA. altemose@stanford.edu.ORCID http://orcid.org/0000-0002-7231-6026
Daniele FachinettiInstitut Curie, PSL Research University, Sorbonne Université, CNRS, UMR144 and UMR3664, Paris, France. daniele.fachinetti@curie.fr.ORCID http://orcid.org/0000-0002-8795-6771

Funding

Genetics and Developmental Biology Training ProgramT32GM141828 · NIGMS · STANFORD UNIVERSITY · PI MARGARET T FULLER, Gavin J Sherlock · 2022 to 2026
$2.6M
Agence Nationale de la Recherche (French National Research Agency) ANR-10-IDEX-0001-02 PSLNIGMS NIH HHS T32 GM141828
6 · The paper itself

Abstract

Maintaining the epigenetic identity of centromeres is essential to prevent genome instability. Centromeres are epigenetically defined by the histone H3 variant CENP-A. Prior work in human centromeres has shown that CENP-A is associated with regions of hypomethylated DNA located within large arrays of hypermethylated repeats, but the functional importance of these DNA methylation (DNAme) patterns remains poorly understood. To address this, we developed tools to perturb centromeric DNAme, revealing that it causally influences CENP-A positioning. We show that rapid loss of methylation results in increased binding of centromeric proteins and alterations in centromere architecture, leading to aneuploidy and reduced cell viability. We also demonstrate that gradual centromeric DNA demethylation prompts a process of cellular adaptation. Altogether, we find that DNAme causally influences CENP-A localization and centromere function, offering mechanistic insights into pathological alterations of centromeric DNAme.

Indexed as

CentromereCentromere Protein ADNA MethylationAneuploidyEpigenesis, GeneticHistonesHumansCENPA protein, humanCentromere Protein AHistones

Identifiers

PMID40908343
PMCPMC12513831

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Registered trials

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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.