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A human neurodevelopmental model for Williams syndrome
Open accessAbstract
Williams syndrome is a genetic neurodevelopmental disorder characterized by an uncommon hypersociability and a mosaic of retained and compromised linguistic and cognitive abilities. Nearly all clinically diagnosed individuals with Williams syndrome lack precisely the same set of genes, with breakpoints in chromosome band 7q11.23 (refs 1-5). The contribution of specific genes to the neuroanatomical and functional alterations, leading to behavioural pathologies in humans, remains largely unexplored. Here we investigate neural progenitor cells and cortical neurons derived from Williams syndrome and typically developing induced pluripotent stem cells. Neural progenitor cells in Williams syndrome have an increased doubling time and apoptosis compared with typically developing neural progenitor cells. Using an individual with atypical Williams syndrome, we narrowed this cellular phenotype to a single gene candidate, frizzled 9 (FZD9). At the neuronal stage, layer V/VI cortical neurons derived from Williams syndrome were characterized by longer total dendrites, increased numbers of spines and synapses, aberrant calcium oscillation and altered network connectivity. Morphometric alterations observed in neurons from Williams syndrome were validated after Golgi staining of post-mortem layer V/VI cortical neurons. This model of human induced pluripotent stem cells fills the current knowledge gap in the cellular biology of Williams syndrome and could lead to further insights into the molecular mechanism underlying the disorder and the human social brain.
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In the citing paper
“Williams (WBS or WS) syndrome is a rare NDD with a deletion of approximately 25 genes on chromosome 7 and characterized by an unusual sociability and cognitive deficits [297].”
From Development of prefrontal cortex (2022) · cites this paper as [297]
Experimental — accuracy not yet measuredIn the citing paper
“deletion variants upstream of FZD9 had previously been associated with cell fraction changes related to Williams syndrome (40).”
From Comprehensive functional genomic resource and integrative model for the human brain (2018) · cites this paper as [40]
In the citing paper
“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 Chailangkarn et al., 2016
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Shi, Y., van Rhijn, J.-R., Bormann, M., Mossink, B., Frega, M., Recaioglu, H., Hakobjan, M., Gunnewiek, T. M. K., Schoenmaker, C., Palmer, E. E., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.10.28.359224
“10 In addition to alterations in dendritic complexity(39, 40), neurodevelopmental disorders have 210 been associated with synaptic deficits in rodents and humans(41).”
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Self-citationNürnberger, J. I. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.734622872.793563012
Faculty Opinions recommendation of Exosomes regulate neurogenesis and circuit assembly.
Loh, Y. P., & Xiao, A. (2020) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.736215404.793572123
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“been linked to neurodevelopmental processes that can alter neuronal morphology, dendritic spine formation and circuit organisation 130,131 .”
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Metadata
- Authors
- Chailangkarn, T., Trujillo, C. A., Freitas, B. C., Hrvoj-Mihic, B., Herai, R. H., Yu, D. X., Brown, T. T., Marchetto, M. C., Bardy, C., McHenry, L., Stefanacci, L., Järvinen, A., Searcy, Y. M., DeWitt, M., Wong, W., Lai, P., Ard, M. C., Hanson, K. L., Romero, S., Jacobs, B., Dale, A. M., Dai, L., Korenberg, J. R., Gage, F. H., Bellugi, U., Halgren, E., Semendeferi, K., & Muotri, A. R.
- Affiliations
- University of California San Diego (US)
- Pontifícia Universidade Católica do Paraná (BR)
- Salk Institute for Biological Studies (US)
- Colorado College (US)
- University of Utah (US)
- Corresponding author
- Semendeferi, Katerina
- Muotri, Alysson R.
- ORCID
- Venue
- Nature
- Published
- 2016-08
- Volume
- 536
- Issue
- 7616
- Pages
- 338-343
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC4995142
- OpenAlex
- W2510152931
- Cited by
- 195
- References
- 60
- Citations by year
- 2026: 8 · 2025: 11 · 2024: 14 · 2023: 15 · 2022: 16 · 2021: 20 · 2020: 23 · 2019: 27 · 2018: 30 · 2017: 27 · 2016: 4
- FWCI
- 14.97
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (1dp2od006495-01)
- U.S. Public Health Service (P01 NICHD033113)
- National Institute of Mental Health (T32MH020002, R01MH095741, R01MH103134, U19MH107367, U19MH106434, R01MH094753, R56MH109587, R01MH100175)
- National Institute on Deafness and Other Communication Disorders (T32DC007361)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome 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
- Williams syndrome, induced pluripotent stem cells, neural progenitor cells, cortical neurons, FZD9, haploinsufficiency, apoptosis, dendritic morphology, synapses, calcium oscillations, neuronal network connectivity, social brain, neurodevelopmental disorders, 7q11.23 deletion
- MeSH terms
- Adolescent, Adult, Brain, Calcium, Cell Differentiation, Cerebral Cortex, Chromosomes, Human, Pair 7, Dendrites, Female, Humans, Male, Models, Neurological, Neurons, Phenotype, Synapses, Reproducibility of Results, Apoptosis, Williams Syndrome, Cell Shape, Frizzled Receptors, Young Adult, Induced Pluripotent Stem Cells, Haploinsufficiency, Neural Stem Cells, Cellular Reprogramming
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