The sociability spectrum: evidence from reciprocal genetic copy number variations
Open accessAbstract
Sociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species-specific. There is an ever-growing accumulation of molecular associations to autism spectrum disorders (ASD), from causative genes to endophenotypes across multiple functional layers; these however, have rarely been put in context with the opposite manifestation featured in hypersociability syndromes. Genetic copy number variations (CNVs) allow to investigate the relationships between gene dosage and its corresponding phenotypes. In particular, CNVs of the 7q11.23 locus, which manifest diametrically opposite social behaviors, offer a privileged window to look into the molecular substrates underlying the developmental trajectories of the social brain. As by definition sociability is studied in humans postnatally, the developmental fluctuations causing social impairments have thus far remained a black box. Here, we review key evidence of molecular players involved at both ends of the sociability spectrum, focusing on genetic and functional associations of neuroendocrine regulators and synaptic transmission pathways. We then proceed to propose the existence of a molecular axis centered around the paradigmatic dosage imbalances at the 7q11.23 locus, regulating networks responsible for the development of social behavior in humans and highlight the key role that neurodevelopmental models from reprogrammed pluripotent cells will play for its understanding.
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GTF2I is located in 7q11.23, a genomic region whose deletion or microduplication provokes complex syndromes with opposite social and speech language behaviors.
“GTF2I is located in 7q11.23, a genomic region which deletion or microduplication provokes complex syndromes with opposite social and speech language behaviors including sociability, speech language, and cognitive alteration associated with neural crest-associated facial features (López-Tobón, et al. 2020).”
From <i>DLX5/6</i> GABAergic Expression Affects Social Vocalization: Implications for Human Evolution (2021) · cites this paper as López-Tobón, et al. 2020
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Biological and therapeutic role of LSD1 in Alzheimer’s diseases
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The autism phenotype and transdiagnostic dimensional frameworks
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О СОЦИАЛИЗАЦИИ И ГЕНЕТИЧЕСКОЙ ИЗМЕНЧИВОСТИ ПРИ ДОМЕСТИКАЦИИ (на примере пород собак)
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Molecular analyses of individual variation in honey bee sociabilityPreprint
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Inference of Autism Risk Genes Through Comparative Sociogenomics and Molecular Network Analysis
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- Authors
- López-Tobón, A., Trattaro, S., & Testa, G.
- Affiliations
- University of Milan (IT)
- Corresponding author
- Trattaro, Sebastiano
- Testa, Giuseppe
- Venue
- Molecular Autism
- Published
- 2020-08-16
- Volume
- 11
- Issue
- 1
- Pages
- 50-50
- ISSN
- 2040-2392 (ISSN-L)
- PMC
- PMC7298749
- OpenAlex
- W3034240415
- Cited by
- 20
- References
- 177
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 4
- FWCI
- 0.36
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Molecular Autism (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Fondazione Cariplo (2017-0886)
- European Research Council (825759)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- sociability, autism spectrum disorder, hypersociability, copy number variation, gene dosage, social behavior development, synaptic transmission, neurodevelopmental model
- MeSH terms
- Chromosomes, Human, Humans, Synaptic Transmission, Neurosecretory Systems, Social Behavior, Gene Dosage, DNA Copy Number Variations
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