Enhanced prefrontal serotonin 5-HT1A currents in a mouse model of Williams-Beuren syndrome with low innate anxiety
Open accessAbstract
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by the hemizygous deletion of 28 genes on chromosome 7, including the general transcription factor GTF2IRD1. Mice either hemizygously (Gtf2ird1(+/-)) or homozygously (Gtf2ird1(-/-)) deleted for this transcription factor exhibit low innate anxiety, low aggression and increased social interaction, a phenotype that shares similarities to the high sociability and disinhibition seen in individuals with WBS. Here, we investigated the inhibitory effects of serotonin (5-HT) on the major output neurons of the prefrontal cortex in Gtf2ird1(-/-) mice and their wildtype (WT) siblings. Prefrontal 5-HT receptors are known to modulate anxiety-like behaviors, and the Gtf2ird1(-/-) mice have altered 5-HT metabolism in prefrontal cortex. Using whole cell recording from layer V neurons in acute brain slices of prefrontal cortex, we found that 5-HT elicited significantly larger inhibitory, outward currents in Gtf2ird1(-/-) mice than in WT controls. In both genotypes, these currents were resistant to action potential blockade with TTX and were suppressed by the selective 5-HT(1A) receptor antagonist WAY-100635, suggesting that they are mediated directly by 5-HT(1A) receptors on the recorded neurons. Control experiments suggest a degree of layer and receptor specificity in this enhancement since 5-HT(1A) receptor-mediated responses in layer II/III pyramidal neurons were unchanged as were responses mediated by two other inhibitory receptors in layer V pyramidal neurons. Furthermore, we demonstrate GTF2IRD1 protein expression by neurons in layer V of the prefrontal cortex. Our finding that 5-HT(1A)-mediated responses are selectively enhanced in layer V pyramidal neurons of Gtf2ird1(-/-) mice gives insight into the cellular mechanisms that underlie reduced innate anxiety and increased sociability in these mice, and may be relevant to the low social anxiety and disinhibition in patients with WBS and their sensitivity to serotonergic medicines. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-010-9044-5) contains supplementary material, which is available to authorized users.
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Other monogenic syndromes like Kleefstra, KBG, WitKoS, Angelman, Coffin-Sirris, Rubinstein-Taybi, Phelan-McDermid, Smith-Magenis Syndrome and Kabuki syndrome also have a clear prefrontal component in their behavioral and cognitive phenotype.
“Other monogenic syndromes like Kleefstra, KBG, WitKoS, Angelman, Coffin-Sirris, Rubinstein-Taybi, Phelan-McDermid, Smith–Magenis Syndrome and Kabuki syndrome also have a clear prefrontal component in their behavioral and cognitive phenotype [272–280].”
From Development of prefrontal cortex (2022) · cites this paper as [280]
The Introduction (page unavailable) discusses Williams-Beuren syndrome and its mouse models, not the named syndromes. Searches for the syndrome names and for a prefrontal component of their behavioral and cognitive phenotypes found no passage addressing the claim. (LLM, conf=0.76)
Experimental — accuracy not yet measuredDeletion of Gtf2i and Gtf2ird1 is involved specifically in the social phenotype of Williams syndrome.
“The deletion of Gtf2i as well as Gtf2ird1 has been shown to be involved in the social pheno-type specifically (Proulx et al., 2010; Sakurai et al., 2011).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Proulx et al., 2010
Gtf2ird1 deletions show increased sociability.
“and Gtf2ird1 deletions, which also show increased sociability (Proulx et al., 2010).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Proulx et al., 2010
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Neuron density is decreased in the prefrontal cortex in Williams syndrome
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- Authors
- Proulx, É., Young, E. J., Osborne, L. R., & Lambe, E. K.
- Affiliations
- University of Toronto (CA)
- Corresponding author
- Lambe, Evelyn K.
- Venue
- Journal of Neurodevelopmental Disorders
- Published
- 2010-03-19
- Volume
- 2
- Issue
- 2
- Pages
- 99-108
- ISSN
- 1866-1947 (ISSN-L)
- 1866-1955
- PMC
- PMC2882561
- OpenAlex
- W2057612626
- Cited by
- 35
- References
- 70
- Citations by year
- 2025: 2 · 2024: 1 · 2022: 1 · 2021: 4 · 2020: 3 · 2019: 4 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 3 · 2014: 3 · 2013: 3 · 2012: 5
- FWCI
- 1.11
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Journal of Neurodevelopmental Disorders (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- TSpace (University of Toronto) (submittedVersion, other-oa)
- Funders
- U.S. Public Health Service (83422-1)
- Canadian Institutes of Health Research (83422_1)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
- Keywords
- Williams syndrome, GTF2IRD1, 5-HT1A receptor, serotonin, prefrontal cortex, layer 5 pyramidal neurons, sociability, disinhibition, neurodevelopmental disorders, mouse model, serotonergic drugs
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