The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes
Open accessAbstract
The complexity of the human brain emerges from a long and finely tuned developmental process orchestrated by the crosstalk between genome and environment. Vis à vis other species, the human brain displays unique functional and morphological features that result from this extensive developmental process that is, unsurprisingly, highly vulnerable to both genetically and environmentally induced alterations. One of the most striking outcomes of the recent surge of sequencing-based studies on neurodevelopmental disorders (NDDs) is the emergence of chromatin regulation as one of the two domains most affected by causative mutations or Copy Number Variations besides synaptic function, whose involvement had been largely predicted for obvious reasons. These observations place chromatin dysfunction at the top of the molecular pathways hierarchy that ushers in a sizeable proportion of NDDs and that manifest themselves through synaptic dysfunction and recurrent systemic clinical manifestation. Here we undertake a conceptual investigation of chromatin dysfunction in NDDs with the aim of systematizing the available evidence in a new framework: first, we tease out the developmental vulnerabilities in human corticogenesis as a structuring entry point into the causation of NDDs; second, we provide a much needed clarification of the multiple meanings and explanatory frameworks revolving around "epigenetics", highlighting those that are most relevant for the analysis of these disorders; finally we go in-depth into paradigmatic examples of NDD-causing chromatin dysregulation, with a special focus on human experimental models and datasets.
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Several master regulators are themselves causative genes of intellectual disability syndromes with neurocristopathic involvement, as in Gabriele-de Vries syndrome caused by YY1 haploinsufficiency.
“several of which are themselves causative genes of intellectual disability syndromes with neurocristopathic involvement, as in the case of our recently identified Gabriele–de Vries syndrome caused by YY1 haploinsufficiency (31, 32).”
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Expanding the phenotypic Spectrum of ZNF711: Autism and epilepsy in two siblings
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- Authors
- Gabriele, M., Lopez Tobon, A., D'Agostino, G., & Testa, G.
- Affiliations
- University of Milan (IT)
- Corresponding author
- Testa, Giuseppe
- Venue
- Progress in Neuro-Psychopharmacology and Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2018-06
- Volume
- 84
- Issue
- Pt B
- Pages
- 306-327
- ISSN
- 0278-5846 (ISSN-L)
- OpenAlex
- W2782325897
- Cited by
- 103
- References
- 329
- Citations by year
- 2026: 8 · 2025: 14 · 2024: 8 · 2023: 13 · 2022: 15 · 2021: 14 · 2020: 19 · 2019: 9 · 2018: 3
- FWCI
- 1.57
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Progress in Neuro-Psychopharmacology and Biological Psychiatry (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
- Funders
- European Research Council (616441)
- Telethon Foundation (GGP13231B, GGP14265)
- Associazione Italiana per la Ricerca sul cancro
- Italian Ministry of Health
- National Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- neurodevelopmental disorders, chromatin regulation, epigenetics, cortical development, copy number variation, synaptic dysfunction, developmental vulnerability, human brain development, gene-environment interaction
- MeSH terms
- Chromatin, Humans, Synapses, Epigenomics, Neurodevelopmental Disorders
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