SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons
Open accessAbstract
Heterozygous loss-of-function mutations in SHANK2 are associated with autism spectrum disorder (ASD). We generated cortical neurons from induced pluripotent stem cells derived from neurotypic and ASD-affected donors. We developed sparse coculture for connectivity assays where SHANK2 and control neurons were differentially labeled and sparsely seeded together on a lawn of unlabeled control neurons. We observed increases in dendrite length, dendrite complexity, synapse number, and frequency of spontaneous excitatory postsynaptic currents. These findings were phenocopied in gene-edited homozygous SHANK2 knockout cells and rescued by gene correction of an ASD SHANK2 mutation. Dendrite length increases were exacerbated by IGF1, TG003, or BDNF, and suppressed by DHPG treatment. The transcriptome in isogenic SHANK2 neurons was perturbed in synapse, plasticity, and neuronal morphogenesis gene sets and ASD gene modules, and activity-dependent dendrite extension was impaired. Our findings provide evidence for hyperconnectivity and altered transcriptome in SHANK2 neurons derived from ASD subjects.
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The dendrite length increase was exacerbated by IGF1 and suppressed by DHPG treatment.
“The dendrite length increase was exacerbated by IGF1 and suppressed by DHPG treatment [48].”
From Utility of iPSC-Derived Cells for Disease Modeling, Drug Development, and Cell Therapy (2022) · cites this paper as [48]
Increased dendrite length, dendrite complexity, synapse number, and frequency of spontaneous excitatory postsynaptic currents were observed in iPSC-derived neurons from an ASD patient carrying SHANK2 mutation.
“However, increased dendrite length, dendrite complexity, synapse number, and frequency of spontaneous excitatory postsynaptic currents were observed in iPSC-derived neurons from an ASD patient carrying SHANK2 mutation.”
From Utility of iPSC-Derived Cells for Disease Modeling, Drug Development, and Cell Therapy (2022) · cites this paper as [48]
Neuronal models of SHANK2, CNTNAP5, and EHMT1 display hyperconnectivity.
“Other studies have reported that neuronal models of SHANK2 (Zaslavsky et al., 2019), CNTNAP5 and EHMT1 (Deneault et al., 2019a) display hyperconnectivity.”
From Getting to the cores of autism (2019) · cites this paper as Zaslavsky et al., 2019
Increased dendrite length and synaptogenesis have been reported in neuron models of Williams syndrome and SHANK2, highlighting that different mutations of the same or different genes can have opposing effects on a cellular phenotype.
“An increase in dendrite length and synaptogenesis has also been reported in neuron models of Williams syndrome (Chailangkarn et al., 2016) and SHANK2 (Zaslavsky et al., 2019), further highlight how different mutations of the same gene or different genes can have opposing effects on a cellular phenotype”
From Getting to the cores of autism (2019) · cites this paper as Zaslavsky et al., 2019
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“Other studies have reported that neuronal models of SHANK2 (Zaslavsky et al., 2019), CNTNAP5, and EHMT1 (Deneault et al.”
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- Authors
- Zaslavsky, K., Zhang, W.-B., McCready, F. P., Rodrigues, D. C., Deneault, E., Loo, C., Zhao, M., Ross, P. J., El Hajjar, J., Romm, A., Thompson, T., Piekna, A., Wei, W., Wang, Z., Khattak, S., Mufteev, M., Pasceri, P., Scherer, S. W., Salter, M. W., & Ellis, J.
- Affiliations
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- University of Prince Edward Island (CA)
- Corresponding author
- Salter, Michael W.
- Ellis, James
- ORCID
- Venue
- Nature Neuroscience
- Published
- 2019-03-25
- Volume
- 22
- Issue
- 4
- Pages
- 556-564
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- PMC
- PMC6475597
- OpenAlex
- W2922584262
- Cited by
- 174
- References
- 80
- Citations by year
- 2026: 16 · 2025: 18 · 2024: 24 · 2023: 23 · 2022: 22 · 2021: 29 · 2020: 28 · 2019: 13
- FWCI
- 13.86
- 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)
- IslandScholar (University of Prince Edward Island) (submittedVersion)
- Funders
- National Institute of Mental Health (R33MH087908)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- Shank2, autism spectrum disorder, hyperconnectivity, dendritic length, synapse number, spontaneous excitatory postsynaptic currents, iPSC-derived neurons, gene correction, insulin-like growth factor I, brain-derived neurotrophic factor, DHPG, transcriptome, neuronal morphogenesis
- MeSH terms
- Autism Spectrum Disorder, Dendrites, Humans, Male, Nerve Tissue Proteins, Neuronal Plasticity, Neurons, Coculture Techniques, Excitatory Postsynaptic Potentials, Gene Knockout Techniques, Induced Pluripotent Stem Cells, Haploinsufficiency, Transcriptome
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