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Cited by 114Genetics and Neurodevelopmental DisordersNeurogenesis and neuroplasticity mechanismsChromatin Remodeling and Cancer

The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

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Mossink, Britt, Negwer, Moritz, Schubert, Dirk, Nadif Kasri, Nael·2021·Cellular and Molecular Life Sciences
DOI 10.1007/s00018-020-03714-5PMC PMC8004494
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Abstract

Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism spectrum disorders (ASD), are a large group of disorders in which early insults during brain development result in a wide and heterogeneous spectrum of clinical diagnoses. Mutations in genes coding for chromatin remodelers are overrepresented in NDD cohorts, pointing towards epigenetics as a convergent pathogenic pathway between these disorders. In this review we detail the role of NDD-associated chromatin remodelers during the developmental continuum of progenitor expansion, differentiation, cell-type specification, migration and maturation. We discuss how defects in chromatin remodelling during these early developmental time points compound over time and result in impaired brain circuit establishment. In particular, we focus on their role in the three largest cell populations: glutamatergic neurons, GABAergic neurons, and glia cells. An in-depth understanding of the spatiotemporal role of chromatin remodelers during neurodevelopment can contribute to the identification of molecular targets for treatment strategies.

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  • Disruption of genes encoding histone modifiers, chromatin remodelers, or associated complexes leads to perturbations extending beyond individual targets, resulting in widespread disorganization of transcriptional programs essential for neurogenesis, regional patterning, and synaptic differentiation.

    “Disruption of genes encoding histone modifiers, chromatin remodelers, or associated complexes leads to perturbations that extend beyond individual targets, resulting in widespread disorganization of transcriptional programs essential for neurogenesis, regional patterning, and synaptic differentiation”

    From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Mossink et al., 2021

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Cited by

Sorted by citations

Authors
Mossink, B., Negwer, M., Schubert, D., & Nadif Kasri, N.
Affiliations
Radboud University Medical Center (NL)
ORCID
Venue
Cellular and Molecular Life Sciences
Publisher
Springer Science and Business Media LLC
Published
2020-12-02
Volume
78
Issue
6
Pages
2517-2563
ISSN
  • 1420-682X (ISSN-L)
  • 1420-9071
DOI
10.1007/s00018-020-03714-5
PMC
PMC8004494
OpenAlex
W3110098794
Cited by
114
References
63
Citations by year
2026: 21 · 2025: 21 · 2024: 16 · 2023: 22 · 2022: 23 · 2021: 11
FWCI
2.00
Type
journal article
Language
en
Open access
Licence
Locations
  • Cellular and Molecular Life Sciences (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Radboud Repository (Radboud University) (submittedVersion)
  • Radboud Repository (Radboud University) (submittedVersion, other-oa)
Funders
  • Simons Foundation Autism Research Initiative (610264)
  • Radboud University Medical Center
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Keywords
chromatin remodelers, neurodevelopmental disorders, intellectual disability, autism spectrum disorder, epigenetics, neuronal differentiation, cell specification, neuronal migration, glutamatergic neurons, GABAergic neurons, glial cells
MeSH terms
Animals, Chromatin, DNA Helicases, Histones, Humans, Neurons, Protein Processing, Post-Translational, Chromatin Assembly and Disassembly, Epigenesis, Genetic, Neurodevelopmental Disorders

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