Evidence map›Paper›PMID 39367234›Full record

ArticleThe EMBO journal2024

A human progeria-associated BAF-1 mutation modulates gene expression and accelerates aging in C. elegans.

Raquel Romero-Bueno, Adrián Fragoso-Luna, Cristina Ayuso, Nina Mellmann, Alan Kavsek, Christian G Riedel, Jordan D Ward, Peter Askjaer

Erratum issuedAbstract read
In one paragraph

Article in The EMBO journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Raquel Romero-BuenoAndalusian Centre for Developmental Biology, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, Junta de Andalucía, Carretera de Utrera, km 1, 41013, Sevilla, Spain.ORCID http://orcid.org/0000-0001-7454-2759
Adrián Fragoso-LunaAndalusian Centre for Developmental Biology, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, Junta de Andalucía, Carretera de Utrera, km 1, 41013, Sevilla, Spain.ORCID http://orcid.org/0000-0003-0325-7293
Cristina AyusoAndalusian Centre for Developmental Biology, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, Junta de Andalucía, Carretera de Utrera, km 1, 41013, Sevilla, Spain.ORCID http://orcid.org/0000-0002-7179-4309
Nina MellmannAndalusian Centre for Developmental Biology, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, Junta de Andalucía, Carretera de Utrera, km 1, 41013, Sevilla, Spain.ORCID http://orcid.org/0009-0000-6665-1285
Alan KavsekDepartment of Biosciences and Nutrition, Karolinska Institutet, Huddinge, 14157, Sweden.ORCID http://orcid.org/0009-0006-0310-6654
Christian G RiedelDepartment of Biosciences and Nutrition, Karolinska Institutet, Huddinge, 14157, Sweden.ORCID http://orcid.org/0000-0002-3689-8022
Jordan D WardDepartment of Molecular, Cell, and Developmental Biology, University of California-Santa Cruz, Santa Cruz, CA, 95064, USA.ORCID http://orcid.org/0000-0001-9870-8936
Peter AskjaerAndalusian Centre for Developmental Biology, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, Junta de Andalucía, Carretera de Utrera, km 1, 41013, Sevilla, Spain. pask@upo.es.ORCID http://orcid.org/0000-0003-3192-4428

Funding

Enhancing and expanding the CGC Strain CollectionP40OD010440 · OD · UNIVERSITY OF MINNESOTA · PI Ann E. Rougvie · 2012 to 2026
$7.5M
Cancerfonden (Swedish Cancer Society) 23 2994 PjEuropean Molecular Biology Organization (EMBO) SEG9276Karolinska Institutet Doctoral Education Grant KIDMEC | Agencia Estatal de Investigación (AEI) BES-2017-080216MEC | Agencia Estatal de Investigación (AEI) CEX2020-001088-MMEC | Agencia Estatal de Investigación (AEI) PID2019-105069GB-I00MEC | Agencia Estatal de Investigación (AEI) PID2022-137162NB-I00MEC | Consejo Superior de Investigaciones Científicas (CSIC) 2023AEP058National Science Foundation (NSF) CAREER award 1942922NIH HHS P40 OD010440Novo Nordisk Fonden (NNF) NNF22OC0078353Vetenskapsrådet (VR) VR2023-04383
6 · The paper itself

Abstract

Alterations in the nuclear envelope are linked to a variety of rare diseases termed laminopathies. A single amino acid substitution at position 12 (A12T) of the human nuclear envelope protein BAF (Barrier to Autointegration Factor) causes Néstor-Guillermo Progeria Syndrome (NGPS). This premature ageing condition leads to growth retardation and severe skeletal defects, but the underlying mechanisms are unknown. Here, we have generated a novel in vivo model for NGPS by modifying the baf-1 locus in C. elegans to mimic the human NGPS mutation. These baf-1(G12T) mutant worms displayed multiple phenotypes related to fertility, lifespan, and stress resistance. Importantly, nuclear morphology deteriorated faster during aging in baf-1(G12T) compared to wild-type animals, recapitulating an important hallmark of cells from progeria patients. Although localization of BAF-1(G12T) was similar to wild-type BAF-1, lamin accumulation at the nuclear envelope was reduced in mutant worms. Tissue-specific chromatin binding and transcriptome analyses showed reduced BAF-1 association in most genes deregulated by the baf-1(G12T) mutation, suggesting that altered BAF chromatin association induces NGPS phenotypes via altered gene expression.

Indexed as

Caenorhabditis elegansProgeriaAgingAnimalsCaenorhabditis elegans ProteinsDisease Models, AnimalDNA-Binding ProteinsGene Expression RegulationHumansMutationNuclear EnvelopeNuclear ProteinsBANF1 protein, humanCaenorhabditis elegans ProteinsDNA-Binding ProteinsNuclear ProteinsAgingBANF1NGPSNuclear LaminaStress Resistance

Identifiers

PMID39367234
PMCPMC11574047

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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.