Research

Fetal signatures in the 3D genome of iPSC-derived neurons and their implications for disease modeling

    • 1 Skolkovo Institute of Science and Technology, A.A. Kharkevich Institute for Information Transmission Problems, Russian Academy of Sciences;
    • 2 Skolkovo Institute of Science and Technology;
    • 3 M.V. Lomonosov Moscow State University;
    • 4 Institute of Gene Biology, Russian Academy of Sciences;
    • 5 M.V. Lomonosov Moscow State University, Institute of Gene Biology, Russian Academy of Sciences;
    • 6 Lopukhin Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency
Published August 3, 2026. https://doi.org/10.1101/gr.281488.125
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cover of Genome Research Vol 36 Issue 8
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Abstract

Induced pluripotent stem cells (iPSCs) have revolutionized neuroscience, providing an approach to generate patient-specific neurons for modeling of neurological diseases. However, it remains unclear how closely iPSC-derived neurons replicate the chromatin architecture of authentic brain neurons. Here, we uniformly process datasets for 228 human and 89 mouse Hi-C and Snm3C-seq samples of different cell subtypes merged into 96 high-coverage contact maps used to examine chromatin features ranging from chromatin compartments and topologically associating domains (TADs) to chromatin loops, Polycomb-mediated contacts, and frequently interacting regions (FIREs). We find that iPSC-derived neurons largely retain chromatin state of undifferentiated cells and resemble fetal rather than mature neurons. iPSC-derived neurons exhibit unusually strong compartmentalization, an enrichment of developmental genes at TAD borders, and a marked reduction of long-range repressive Polycomb-mediated contacts that typically silence early fetal programs. Although immature, iPSC-derived neurons offer advantages for modeling interactions between disease-associated SNPs and target genes, as many psychiatric disorders have neurodevelopmental origins. Integrating iPSC-derived and post-mortem neuronal datasets therefore provides complementary insights into the chromatin landscape underlying disease-associated interactions. Our study offers a valuable Hi-C resource for the community and provides a detailed comparison of chromatin architecture throughout neuronal maturation, underscoring its importance for validating neuronal models and providing a robust framework for future studies.

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