Evidence map›Paper›PMID 41620616›Full record

ArticleGenome biology2026

MER57E3 transposable elements regulate gene expression in a human cell model of neural development.

Michelle Almeida da Paz, Umut Yildiz, Minyoung Kim, Víctor Campos-Fornés, Marina Pinkasz, Thomas Dahlet, Kyung-Min Noh, Leila Taher

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Article in Genome biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Michelle Almeida da PazInstitute of Biomedical Informatics, Graz University of Technology, Graz, Austria.
Umut YildizEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
Minyoung KimEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
Víctor Campos-FornésEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
Marina PinkaszEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
Thomas DahletEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
Kyung-Min NohEuropean Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
Leila TaherInstitute of Biomedical Informatics, Graz University of Technology, Graz, Austria. leila.taher@tugraz.at.

Funding

Austrian Science Fund P33437
6 · The paper itself

Abstract

backgroundLong dismissed as mere genomic parasites, transposable elements (TEs) are now recognized as major drivers of genome evolution. TEs serve as a source of cell-type specific cis-regulatory elements, influencing gene expression and observable phenotypes. However, the precise TE regulatory roles in different contexts remain largely unexplored and the impact of TEs on transcriptional regulatory networks and contribution to disease risk is likely deeply underestimated.

resultsUsing a multimapper-aware strategy, we systematically characterize the epigenetic profile of TEs in human cell systems modeling neural development. This analysis reveals that MER57E3, a primate-specific TE subfamily, exhibits strong enrichment for active, and absence of repressive, histone modifications across six cultured human neural cell types. MER57E3 copies are predominantly located near zinc finger genes and enriched for homeodomain motifs recognized by brain-specific transcription factors, including GBX1 and BSX. Upon CRISPR interference (CRISPRi) targeting specific MER57E3 copies, RNA-seq analysis demonstrates downregulation of the key neurogenesis-related genes PAX6 and NEUROG2.

conclusionsOur data indicate that members of the MER57E3 TE subfamily regulate the expression of critical neurogenesis genes during neural progenitor cell (NPC) development. Moreover, this study emphasizes the importance of investigating TEs, offering new insights into how their epigenetic dysregulation may contribute to pathogenesis of neurodevelopmental disorders.

Indexed as

DNA Transposable ElementsGene Expression Regulation, DevelopmentalNeurogenesisEpigenesis, GeneticHumansNeurodevelopmentDNA Transposable ElementsEarly neural developmentEpigenetic profileGene regulationNeural progenitor cell (NPC)Targeted CRISPR interference (CRISPRi)Transposable element

Identifiers

PMID41620616
PMCPMC12947407

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LicenceCC BY
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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.