Chromatin remodeller Chd7 is developmentally regulated in the neural crest by tissue-specific transcription factors
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Abstract
Neurocristopathies such as CHARGE syndrome result from aberrant neural crest development. A large proportion of CHARGE cases are attributed to pathogenic variants in the gene encoding CHD7, chromodomain helicase DNA binding protein 7, which remodels chromatin. While the role for CHD7 in neural crest development is well documented, how this factor is specifically up-regulated in neural crest cells is not understood. Here, we use epigenomic profiling of chick and human neural crest to identify a cohort of enhancers regulating Chd7 expression in neural crest cells and other tissues. We functionally validate upstream transcription factor binding at candidate enhancers, revealing novel epistatic relationships between neural crest master regulators and Chd7, showing tissue-specific regulation of a globally acting chromatin remodeller. Furthermore, we find conserved enhancer features in human embryonic epigenomic data and validate the activity of the human equivalent CHD7 enhancers in the chick embryo. Our findings embed Chd7 in the neural crest gene regulatory network and offer potentially clinically relevant elements for interpreting CHARGE syndrome cases without causative allocation.
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Dysfunction of chromatin remodeling genes can lead to systemic disruptions in developmental programming and plasticity regulation.
“Dysfunction of these genes can lead to systemic disruptions in developmental programming and plasticity regulation (Ogino and Dou, 2024; Williams et al., 2024).”
From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Williams et al., 2024
The Introduction (page unavailable) links CHD7 mutations to CHARGE syndrome, describes abnormalities in multiple organs, and reports that neural crest cells require Chd7 to maintain multipotency. This supports disruption of development and a specific form of cellular plasticity, but not the broader claim of systemic disruption of plasticity regulation. (LLM, conf=0.84)
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Cited by
Sorted by citations
Qing, Z., Yin, Z., Chen, B., Rao, Z., Yin, D., Li, D., Lu, Y., Shi, M., Li, S., Xu, Y., et al. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1964684
“Dysfunction of these genes can lead to systemic disruptions in developmental programming and plasticity regulation (Ogino and Dou, 2024; Williams et al., 2024).”
- Authors
- Williams, R. M., Taylor, G., Ling, I. T. C., Candido-Ferreira, I., Fountain, D. M., Mayes, S., Ateş-Kalkan, P. S., Haug, J. O., Price, A. J., McKinney, S. A., Bozhilovh, Y. K., Tyser, R. C. V., Srinivas, S., Hughes, J. R., & Sauka-Spengler, T.
- Affiliations
- Stowers Institute for Medical Research (US)
- University of Oxford (GB)
- Corresponding author
- Williams, Ruth M.
- ORCID
- Venue
- PLOS Biology
- Publisher
- Public Library of Science (PLoS)
- Published
- 2024-10-17
- Volume
- 22
- Issue
- 10
- Pages
- e3002786
- ISSN
- 1544-9173 (ISSN-L)
- 1545-7885
- PMC
- PMC11521297
- OpenAlex
- W4403511184
- Cited by
- 12
- References
- 71
- Citations by year
- 2026: 5 · 2025: 6 · 2023: 1
- FWCI
- 1.50
- Type
- journal article
- Language
- en
- Update notices
- new_version (2024-10-29)
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS Biology (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Apollo (University of Cambridge) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion, cc-by-nc-nd)
- Funders
- Wellcome Trust (215615/Z/19?Z)
- Stowers Institute for Medical Research
- Cancer Research UK (BST00230-H400.01)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Health Sciences › Medicine › Genetics › Congenital Ear and Nasal Anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- CHD7, chromatin remodeling, neural crest development, CHARGE syndrome, enhancers, transcription factor binding, gene regulatory networks, epigenomics, chick embryo, tissue-specific gene regulation, neurocristopathy
- MeSH terms
- Animals, Chick Embryo, DNA Helicases, DNA-Binding Proteins, Enhancer Elements, Genetic, Humans, Neural Crest, Organ Specificity, Transcription Factors, Gene Expression Regulation, Developmental, Chromatin Assembly and Disassembly, Gene Regulatory Networks, CHARGE Syndrome
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