Evidence map›Paper›PMID 42420667›Full record

ArticleEMBO reports2026

Transcriptional perturbation of LINE-1 elements reveals their cis-regulatory potential.

Yuvia A Pérez-Rico, Anna Le Breton, Aurélie Bousard, Lenka Henao Misikova, Eskeatnaf Mulugeta, Sérgio F de Almeida, Alysson R Muotri, Edith Heard, Anne-Valerie Gendrel

Abstract read
In one paragraph

Article in EMBO reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 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

9 authors.

Yuvia A Pérez-RicoDirectors' Research, European Molecular Biology Laboratory, Heidelberg, Germany.ORCID 0000-0001-8436-0748
Anna Le BretonGIMM - Gulbenkian Institute for Molecular Medicine, Lisbon, Portugal.ORCID 0000-0002-3896-8215
Aurélie BousardGenetics and Developmental Biology Unit, Institut Curie, PSL Research University, CNRS UMR3215, INSERM U934, Paris, France.
Lenka Henao MisikovaGIMM - Gulbenkian Institute for Molecular Medicine, Lisbon, Portugal.
Eskeatnaf MulugetaGenetics and Developmental Biology Unit, Institut Curie, PSL Research University, CNRS UMR3215, INSERM U934, Paris, France.
Sérgio F de AlmeidaGIMM - Gulbenkian Institute for Molecular Medicine, Lisbon, Portugal.
Alysson R MuotriDepartments of Pediatrics and Cellular & Molecular Medicine, School of Medicine, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0003-0867-2875
Edith HeardDirectors' Research, European Molecular Biology Laboratory, Heidelberg, Germany.
Anne-Valerie GendrelGIMM - Gulbenkian Institute for Molecular Medicine, Lisbon, Portugal. anne-valerie.gendrel@gimm.pt.ORCID 0000-0003-4510-0024

Funding

Establishment of a causal link between AD and L1 retrotransposonsR01AG078959 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Alysson R. Muotri · 2022 to 2026
$3.9M
EC | European Research Council (ERC) 671027EC | H2020 | PRIORITY 'Excellent science' | H2020 Marie Skłodowska-Curie Actions (MSCA) 882771HHS | National Institutes of Health (NIH) R01AG078959MEC | Fundação para a Ciência e a Tecnologia (FCT) 2022.02195.PTDCMEC | Fundação para a Ciência e a Tecnologia (FCT) 2023.00762.BDMEC | Fundação para a Ciência e a Tecnologia (FCT) 2023.13706.PEXMEC | Fundação para a Ciência e a Tecnologia (FCT) CEECIND/02085/2018NIA NIH HHS R01 AG078959
6 · The paper itself

Abstract

Long interspersed element-1 (LINE-1 or L1) retrotransposons constitute the largest transposable element family in mammalian genomes and contribute prominently to inter- and intra-individual genetic variation. Although most L1 elements are inactive, some evolutionary younger elements remain intact and genetically competent for transcription and occasionally retrotransposition. Despite being generally more abundant in gene-poor regions, intact or full-length L1s (FL-L1) are also enriched around specific classes of genes and on the eutherian X chromosome. How proximal FL-L1 may affect nearby gene expression remains unclear. Here, we examine this systematically using engineered mouse embryonic stem cells (ESCs) in which expression of one active L1 subfamily is perturbed. We find that FL-L1 activation leads to the misregulation of ~1024 genes, whereas FL-L1 repression affects ~81 genes. In most cases (68%), misexpressed genes contain an intronic FL-L1 or lie near a FL-L1 (< 260 kb). Gene ontology analysis shows that upon L1 activation, upregulated genes are enriched for neuronal function-related terms, suggesting that some L1 elements may have evolved to control neuronal gene networks. These results illustrate the cis-regulatory potential of FL-L1 elements and suggest a broader role for L1s than originally anticipated.

Indexed as

Gene Expression RegulationLong Interspersed Nucleotide ElementsRegulatory Sequences, Nucleic AcidTranscription, GeneticAnimalsEmbryonic Stem CellsMiceMouse Embryonic Stem Cells

Identifiers

PMID42420667
PMCPMC13503937

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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.