Cited by 295Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersPluripotent Stem Cells Research

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Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons

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Schafer, Simon T., Paquola, Apua C. M., Stern, Shani, Gosselin, David, Ku, Manching, Pena, Monique, Kuret, Thomas J. M., Liyanage, Marvin, Mansour, Abed AlFatah, Jaeger, Baptiste N., Marchetto, Maria C., Glass, Christopher K., Mertens, Jerome, Gage, Fred H.·2019·Nature Neuroscience

DOI 10.1038/s41593-018-0295-xPMC PMC6402576

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Abstract

Autism spectrum disorder (ASD) is thought to emerge during early cortical development. However, the exact developmental stages and associated molecular networks that prime disease propensity are elusive. To profile early neurodevelopmental alterations in ASD with macrocephaly, we monitored subject-derived induced pluripotent stem cells (iPSCs) throughout the recapitulation of cortical development. Our analysis revealed ASD-associated changes in the maturational sequence of early neuron development, involving temporal dysregulation of specific gene networks and morphological growth acceleration. The observed changes tracked back to a pathologically primed stage in neural stem cells (NSCs), reflected by altered chromatin accessibility. Concerted over-representation of network factors in control NSCs was sufficient to trigger ASD-like features, and circumventing the NSC stage by direct conversion of ASD iPSCs into induced neurons abolished ASD-associated phenotypes. Our findings identify heterochronic dynamics of a gene network that, while established earlier in development, contributes to subsequent neurodevelopmental aberrations in ASD.

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Additional file 4 of Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
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Additional file 9 of Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
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Additional file 8 of Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
Falker‐Gieske, C. (2024) · Figshare · doi:10.6084/m9.figshare.26630653
Additional file 7 of Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes
Hathy, E., Szabó, E., Varga, N., Erdei, Z., Tordai, C., Czehlár, B., Baradits, M., Jezsó, B., Koller, J., Nagy, L., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13297027
Additional file 6 of Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
Falker‐Gieske, C. (2024) · Figshare · doi:10.6084/m9.figshare.26630647
Additional file 10 of Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
Falker‐Gieske, C. (2024) · Figshare · doi:10.6084/m9.figshare.26630659
Additional file 1 of Integration of multi-omics data reveals cis-regulatory variants that are associated with phenotypic differentiation of eastern from western pigs
Liu, Y., Fu, Y., Yang, Y., Yi, G., Lian, J., Xie, B., Yao, Y., Chen, M., Niu, Y., Liu, L., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21117428
Additional file 6 of Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes
Hathy, E., Szabó, E., Varga, N., Erdei, Z., Tordai, C., Czehlár, B., Baradits, M., Jezsó, B., Koller, J., Nagy, L., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13297024
Additional file 8 of Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes
Hathy, E., Szabó, E., Varga, N., Erdei, Z., Tordai, C., Czehlár, B., Baradits, M., Jezsó, B., Koller, J., Nagy, L., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13297030
Additional file 9 of Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes
Hathy, E., Szabó, E., Varga, N., Erdei, Z., Tordai, C., Czehlár, B., Baradits, M., Jezsó, B., Koller, J., Nagy, L., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13297033
Additional file 3 of Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
Falker‐Gieske, C. (2024) · Figshare · doi:10.6084/m9.figshare.26630638
Additional file 3 of Integration of multi-omics data reveals cis-regulatory variants that are associated with phenotypic differentiation of eastern from western pigs
Liu, Y., Fu, Y., Yang, Y., Yi, G., Lian, J., Xie, B., Yao, Y., Chen, M., Niu, Y., Liu, L., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21117440
Additional file 5 of Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
Falker‐Gieske, C. (2024) · Figshare · doi:10.6084/m9.figshare.26630644
Additional file 1 of Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
Falker‐Gieske, C. (2024) · Figshare · doi:10.6084/m9.figshare.26630632
Additional file 7 of Transcriptome driven discovery of novel candidate genes for human neurological disorders in the telomer-to-telomer genome assembly era
Falker‐Gieske, C. (2024) · Figshare · doi:10.6084/m9.figshare.26630650
Additional file 1 of Application of Airy beam light sheet microscopy to examine early neurodevelopmental structures in 3D hiPSC-derived human cortical spheroids
Adhya, D., Chennell, G., Crowe, J. A., Valencia-Alarcón, E. P., Seyforth, J., Hosny, N. A., Yasvoina, M. V., Forster, R., Baron‐Cohen, S., Vernon, A. C., et al. (2021) · Figshare · doi:10.6084/m9.figshare.13632927
Induced pluripotent stem cells in autism research: a review of current advances and future directions
Ariaei, A., Ketabforoush, A. H. M. E., Bordbar, S., Barati, S., Lotfi, A., Sayahpour, F. A., Faghihi, F., & Abediankenari, S. (2026) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-026-00850-8
FGF2 Boost for Driving Forebrain Organoid Maturation Under Static Conditions
Grecu, E., Maxia, C., Dolciotti, C., Bongioanni, P., Carratore, R. D., Isola, M., Mocci, I., Casu, M. A., Picciau, F., Murtas, D., et al. (2026) · Journal of Histochemistry & Cytochemistry · doi:10.1369/00221554261433071
Tatton-Brown-Rahman Syndrome-associated DNMT3A mutations de-repress cortical interneuron differentiation to disrupt neuronal network functionPreprint
Chapman, G., Determan, J. J., Edwards, J. R., Batool, F., Huettner, J. E., Prakasam, R., Crump, S. R., Razia, Y., Malik, S., Law, T. E., et al. (2026) · eLife · doi:10.7554/elife.111056.1
Tatton-Brown-Rahman Syndrome-associated DNMT3A mutations de-repress cortical interneuron differentiation to disrupt neuronal network functionPreprint
Chapman, G., Determan, J. J., Edwards, J. R., Batool, F., Huettner, J. E., Prakasam, R., Crump, S. R., Razia, Y., Malik, S., Law, T. E., et al. (2026) · eLife · doi:10.7554/elife.111056
Human Cellular Models of Autism and Related Conditions
Guttikonda, S. R., & Makinson, C. D. (2026) · Biological Psychiatry · doi:10.1016/j.biopsych.2026.07.003
Pathological Priming and Developmental Heterochrony as Organizing Concepts in Human iPSC Models of Autism Spectrum Disorder
Jahandideh, P., & Bitaraf, A. (2026) · Molecular Neurobiology · doi:10.1007/s12035-026-06252-6
Impacts of different SETD1A mutations and genetic backgrounds on human induced pluripotent stem cell-derived hippocampal neuronsPreprint
Hong, Y., Zhao, T., Yang, Q., Zhang, H., Ma, X., Su, X., Liu, J., Zhang, S., Mendez-Maldonado, K., Zhou, Y., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.10.07.756381
Heterochronicity shapes brain network formation
Poli, F., Oldham, S., Mousley, A., Bullmore, E. T., Vértes, P. E., & Astle, D. E. (2026) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2610400123
Key Resource Table: Dynamic convergence of neurodevelopmental disorder risk genes across neurodevelopment
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Authors: Schafer, S. T., Paquola, A. C. M., Stern, S., Gosselin, D., Ku, M., Pena, M., Kuret, T. J. M., Liyanage, M., Mansour, A. A., Jaeger, B. N., Marchetto, M. C., Glass, C. K., Mertens, J., & Gage, F. H.
Affiliations: Salk Institute for Biological Studies (US)
Centre hospitalier universitaire de Québec (CA)
University of California San Diego (US)
Corresponding author: Gage, Fred H.
ORCID: Schafer, Simon T.
Stern, Shani
Gosselin, David
Ku, Manching
Pena, Monique
Kuret, Thomas J. M.
Mansour, Abed AlFatah
Jaeger, Baptiste N.
Marchetto, Maria C.
Glass, Christopher K.
Gage, Fred H.
Venue: Nature Neuroscience
Publisher: Springer Science and Business Media LLC
Published: 2019-01-07
Volume: 22
Issue: 2
Pages: 243-255
ISSN: 1097-6256 (ISSN-L)
1546-1726
DOI: 10.1038/s41593-018-0295-x
PMC: PMC6402576
OpenAlex: W2906812748
Cited by: 288
References: 71
Citations by year: 2026: 18 · 2025: 34 · 2024: 25 · 2023: 35 · 2022: 40 · 2021: 44 · 2020: 63 · 2019: 28
FWCI: 25.58
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Nature Neuroscience (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institute on Aging (R01AG056306)
National Institute of Mental Health (R01MH090258, R03MH115426, R01MH095741)
National Cancer Institute (P30CA014195)
National Institute of Neurological Disorders and Stroke (R01NS096170)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
Keywords: autism spectrum disorder, heterochrony, cortical development, neural stem cells, induced neurons, induced pluripotent stem cells, chromatin accessibility, macrocephaly, iPSC-derived neurons
MeSH terms: Autism Spectrum Disorder, Humans, Nerve Net, Neurons, Gene Regulatory Networks, Inhibitory Postsynaptic Potentials, Induced Pluripotent Stem Cells, Neural Stem Cells

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Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons

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