Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology
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Mutations in the postsynaptic scaffolding gene SHANK2 have recently been identified in individuals with autism spectrum disorder (ASD) and intellectual disability. However, the cellular and physiological consequences of these mutations in neurons remain unknown. We have analyzed the functional impact caused by two inherited and one de novo SHANK2 mutations from ASD individuals (L1008_P1009dup, T1127M, R462X). Although all three variants affect spine volume and have smaller SHANK2 cluster sizes, T1127M additionally fails to rescue spine volume in Shank2 knock-down neurons. R462X is not able to rescue spine volume and dendritic branching and lacks postsynaptic clustering, indicating the most severe dysfunction. To demonstrate that R462X when expressed in mouse can be linked to physiological effects, we analyzed synaptic transmission and behavior. Principal neurons of mice expressing rAAV-transduced SHANK2-R462X present a specific, long-lasting reduction in miniature postsynaptic AMPA receptor currents. This dominant negative effect translates into dose-dependent altered cognitive behavior of SHANK2-R462X-expressing mice, with an impact on the penetrance of ASD.
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Human genetic studies indicate that SHANK1, SHANK2, and SHANK3 are causative genes for idiopathic autism spectrum disorders.
“Recent human genetic studies indicate that SHANK family genes (SHANK1, SHANK2, and SHANK3) are causative genes for idiopathic autism spectrum disorders (ASD).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Berkel et al., 2012
SHANK/ProSAP family proteins are promising candidates for modeling ASD in mice because of strong genetic evidence of SHANK molecular defects in ASD patients.
“SHANK/ProSAP family proteins (SHANK1, SHANK2, SHANK3) have emerged as promising candidates for modeling ASD in mice due to strong genetic evidence showing molecular defects of SHANK in patients with ASD (Berkel et al., 2010; Berkel et al., 2012; Durand et al., 2007; Gauthier et al., 2010; Marshall et al., 2008; Pinto et al., 2010; Sato et al., 2012).”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Berkel et al., 2012
Mutations in SHANK1 and SHANK2 have also been associated with ASD.
“Recently, mutations in SHANK1 and SHANK2 have also been associated with ASD (Berkel et al., 2010; Berkel et al., 2012; Sato et al., 2012), supporting a general function for this gene family in common molecular pathways associated with ASD.”
From Modeling Autism by SHANK Gene Mutations in Mice (2013) · cites this paper as Berkel et al., 2012
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- Authors
- Berkel, S., Tang, W., Treviño, M., Vogt, M., Obenhaus, H. A., Gass, P., Scherer, S. W., Sprengel, R., Schratt, G., & Rappold, G. A.
- Affiliations
- Heidelberg University (DE)
- Max Planck Institute for Medical Research (DE)
- University of Toronto (CA)
- Philipps University of Marburg (DE)
- Corresponding author
- Rappold, Gudrun Anna
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2011-10-12
- Volume
- 21
- Issue
- 2
- Pages
- 344-357
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC3276277
- OpenAlex
- W2120195741
- Cited by
- 162
- References
- 34
- Citations by year
- 2026: 6 · 2025: 4 · 2024: 23 · 2023: 7 · 2022: 10 · 2021: 12 · 2020: 11 · 2019: 8 · 2018: 14 · 2017: 9 · 2016: 9 · 2015: 14 · 2014: 14 · 2013: 9 · 2012: 11
- FWCI
- 6.98
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Human Molecular Genetics (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Max Planck Digital Library (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Funders
- GlaxoSmithKline
- Deutsche Forschungsgemeinschaft (EXC 81, SFB636.A4, SFB 636, SFB 488)
- Bundesministerium für Bildung und Forschung (01GS08168, EXC81)
- University of Toronto
- Hospital for Sick Children
- Canadian Institutes of Health Research
- 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, de novo mutations, postsynaptic scaffolding, dendritic spine morphology, synaptic transmission, intellectual disability, cognitive behavior, dominant negative effect, penetrance, neuronal morphogenesis
- MeSH terms
- Animals, Child, Child Development Disorders, Pervasive, Hippocampus, Humans, Morphogenesis, Mutation, Nerve Tissue Proteins, Neurons, Mice, Gene Knockdown Techniques
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