Evidence map›Paper›PMID 31999646›Full record

ArticleThe Journal of clinical investigation2020

Dysfunctional polycomb transcriptional repression contributes to lamin A/C-dependent muscular dystrophy.

Andrea Bianchi, Chiara Mozzetta, Gloria Pegoli, Federica Lucini, Sara Valsoni, Valentina Rosti, Cristiano Petrini, Alice Cortesi, Francesco Gregoretti, Laura Antonelli and 8 more

Open access · bronzeAbstract read
In one paragraph

Article in The Journal of clinical investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed
3.2field-weighted citation impact, top 7% 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

36 citing papers in PubMed, 55 citations in OpenAlex.

  1. Article
  2. Article
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  4. Article
  5. Lamins' role in osteosarcoma.Frontiers in cell and developmental biology · 2026
    Review
  6. The molecular basis of lamin-specific chromatin interactions.Nature structural & molecular biology · 2025
    Article
  7. Article
  8. Article
  9. Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Epigenetics inCells · 2023
    Review
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article
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

18 authors at 8 institutions in 1 country.

Andrea BianchiIstituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi," Milan, Italy.
Chiara MozzettaInstitute of Cell Biology and Neurobiology, National Research Council (CNR), Rome, Italy.
Gloria PegoliSanta Lucia Foundation, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy.
Federica LuciniIstituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi," Milan, Italy.
Sara ValsoniIstituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi," Milan, Italy.
Valentina RostiInstitute of Biomedical Technologies, CNR, Milan, Italy.
Cristiano PetriniIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy.
Alice CortesiIstituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi," Milan, Italy.
Francesco GregorettiInstitute for High Performance Computing and Networking, CNR, Naples, Italy.
Laura AntonelliInstitute for High Performance Computing and Networking, CNR, Naples, Italy.
Gennaro OlivaInstitute for High Performance Computing and Networking, CNR, Naples, Italy.
Marco De BardiSanta Lucia Foundation, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy.
Roberto RizziIstituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi," Milan, Italy.
Beatrice BodegaIstituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi," Milan, Italy.
Diego PasiniIEO European Institute of Oncology IRCCS, Department of Experimental Oncology, Milan, Italy.
Francesco FerrariIFOM, the FIRC Institute of Molecular Oncology, Milan, Italy.
Claudia BearziIstituto Nazionale di Genetica Molecolare "Romeo ed Enrica Invernizzi," Milan, Italy.
Chiara LanzuoloSanta Lucia Foundation, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy.
Fondazione Santa Lucia · ITInstitute for High Performance Computing and Networking · ITIstituto Nazionale Genetica Molecolare · ITIFOM · ITInstitute of Biomedical Technologies · ITNational Research Council · ITInstitute of Cell Biology and Neurobiology · ITUniversity of Milan · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lamin A is a component of the inner nuclear membrane that, together with epigenetic factors, organizes the genome in higher order structures required for transcriptional control. Mutations in the lamin A/C gene cause several diseases belonging to the class of laminopathies, including muscular dystrophies. Nevertheless, molecular mechanisms involved in the pathogenesis of lamin A-dependent dystrophies are still largely unknown. The polycomb group (PcG) of proteins are epigenetic repressors and lamin A interactors, primarily involved in the maintenance of cell identity. Using a murine model of Emery-Dreifuss muscular dystrophy (EDMD), we show here that lamin A loss deregulated PcG positioning in muscle satellite stem cells, leading to derepression of non-muscle-specific genes and p16INK4a, a senescence driver encoded in the Cdkn2a locus. This aberrant transcriptional program caused impairment in self-renewal, loss of cell identity, and premature exhaustion of the quiescent satellite cell pool. Genetic ablation of the Cdkn2a locus restored muscle stem cell properties in lamin A/C-null dystrophic mice. Our findings establish a direct link between lamin A and PcG epigenetic silencing and indicate that lamin A-dependent muscular dystrophy can be ascribed to intrinsic epigenetic dysfunctions of muscle stem cells.

Indexed as

Epigenesis, GeneticTranscription, GeneticAnimalsCyclin-Dependent Kinase Inhibitor p16Lamin Type AMiceMice, KnockoutMuscle, SkeletalMuscular Dystrophy, AnimalMuscular Dystrophy, Emery-DreifussPolycomb-Group ProteinsRepressor ProteinsCdkn2a protein, mouseCyclin-Dependent Kinase Inhibitor p16Lamin Type APolycomb-Group ProteinsRepressor ProteinsEpigeneticsMouse stem cellsMuscle BiologySkeletal muscleStem cells

Identifiers

PMID31999646
PMCPMC7190994
OpenAlexW3004393962

What OpenQuestion holds

Textmetadata
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.