Evidence map›Paper›PMID 41350282›Full record

ArticleNature communications2025

PITX2 dosage-dependent changes in pacemaker cell state underlie sinus node dysfunction and atrial arrhythmias.

Lieve E van der Maarel, M Ridwane Mungroo, Otto J Mulleners, Mathilde R Rivaud, Arie O Verkerk, Karel van Duijvenboden, Freek H T Tiel Groenestege, Jeffrey D Steimle, Lianne Fokkert, Corrie de Gier-de Vries and 7 more

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. 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

17 authors.

Lieve E van der MaarelDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0001-6686-4029
M Ridwane Mungroo *Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-8056-4011
Otto J Mulleners *Department of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0009-0000-6205-9591
Mathilde R RivaudDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Arie O VerkerkDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0003-2140-834X
Karel van DuijvenbodenDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Freek H T Tiel GroenestegeDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Jeffrey D SteimleDepartment of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-1369-9661
Lianne FokkertDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Corrie de Gier-de VriesDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Mischa KlerkDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Arie R BoenderDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
James F MartinDepartment of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0002-7842-9857
Bjarke JensenDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Gerard J J BoinkDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0002-6592-5106
Harsha D DevallaDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0001-5343-1021
Vincent M ChristoffelsDepartment of Medical Biology, Amsterdam Cardiovascular Sciences, Amsterdam Reproduction and Development, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands. v.m.christoffels@amsterdamumc.nl.ORCID http://orcid.org/0000-0003-4131-2636

Funding

Pitx2 in atrial fibrillationR01HL118761 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI MARTIN, JAMES F · 2014 to 2025
$6.1M
Cytoskeletal Control of Yap in Heart RegenerationR01HL169511 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI James F Martin · 2023 to 2026
$2.7M
Reawakening cardiomyocyte proliferation from structural mediated quiescenceR01HL171574 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI James F Martin, Sean M Wu · 2024 to 2026
$1.9M
Hippo-YAP signaling in cardiac regenerative repairR01HL173242 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI James F Martin · 2025 to 2026
$1.4M
Senescent Cell States in Single Ventricle Disease with Heart FailureR01HL177644 · NHLBI · TEXAS HEART INSTITUTE · PI James F Martin · 2025 to 2026
$1.3M
Left-right asymmetry and PITX2 in atrial fibrillationR00HL169742 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI Jeffrey David Steimle · 2025 to 2026
$498k
Left-right asymmetry and PITX2 in atrial fibrillationK99HL169742 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI STEIMLE, JEFFREY DAVID · 2023 to 2024
$214k
EC | EU Framework Programme for Research and Innovation H2020 | H2020 Priority Excellent Science | H2020 European Research Council (H2020 Excellent Science - European Research Council) 101116688Hartstichting (Dutch Heart Foundation) CVON2019-002 OUTREACHNederlandse Organisatie voor Wetenschappelijk Onderzoek (Netherlands Organisation for Scientific Research) OCENW.GROOT.2019.029NHLBI NIH HHS K99 HL169742NHLBI NIH HHS R00 HL169742NHLBI NIH HHS R01 HL118761NHLBI NIH HHS R01 HL169511NHLBI NIH HHS R01 HL171574NHLBI NIH HHS R01 HL173242NHLBI NIH HHS R01 HL177644U.S. Department of Health & Human Services | National Institutes of Health (NIH) HL 118761U.S. Department of Health & Human Services | National Institutes of Health (NIH) HL 171574U.S. Department of Health & Human Services | National Institutes of Health (NIH) HL 173242U.S. Department of Health & Human Services | National Institutes of Health (NIH) HL 177644U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R00HL169742
6 · The paper itself

Abstract

Physiologically relevant increases in transcription factor dosage and their role in development and disease remain largely unexplored. Genomic deletions upstream of the Paired-like homeodomain transcription factor gene (PITX2), identified in patients with sinus node dysfunction and atrial fibrillation and modeled in mice (delB), rewire the local epigenetic landscape, increasing PITX2 expression. Here, we demonstrate that pacemaker cardiomyocytes in the embryonic delB sinus node ectopically express PITX2 at physiological dosages in a heterogeneous pattern. The prenatal delB sinus node forms discrete subdomains showing PITX2 dosage-dependent mild or severe loss of pacemaker cardiomyocyte identity. Respective subdomain sizes and severity of sinus node dysfunction and atrial arrhythmia susceptibility align with PITX2 dosage. Ectopic PITX2c expression in human induced pluripotent stem cell-derived pacemaker cardiomyocytes causes PITX2 dosage-dependent transcriptional and electrophysiological changes paralleling those in delB mice. Our findings provide a mechanistic link between genetic variation-driven ectopic PITX2 expression, sinus node dysfunction and atrial arrhythmogenesis, illustrating how spatiotemporally defined increases in transcription factor dosage can translate into developmental defects and disease predisposition.

Indexed as

Arrhythmias, CardiacAtrial FibrillationHomeodomain ProteinsSick Sinus SyndromeSinoatrial NodeTranscription FactorsAnimalsFemaleGene DosageGene Expression Regulation, DevelopmentalHomeobox Protein PITX2HumansInduced Pluripotent Stem CellsMiceMyocytes, CardiacHomeobox Protein PITX2Homeodomain ProteinsTranscription Factors

Identifiers

PMID41350282
PMCPMC12712101

What Socratic holds

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LicenceCC BY
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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 Socratic graph.