Dysfunction of a SET3-like complex underlies a family of related neurological disorders
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Abstract
TBLR1 is a subunit of the NCoR corepressor complex that is mutated in a range of neurodevelopmental disorders. Here, we report that TBLR1 functions as a molecular scaffold that physically connects ANKRD11 and SETD5 – two of the most frequently mutated proteins in neurodevelopmental disorders – and links them to the rest of the NCoR complex. The resulting assembly resembles the yeast SET3 complex (SET3C) – a transcriptional regulator. Pathogenic missense mutations in TBLR1, ANKRD11 and SETD5 disrupt this assembly, and an engineered mutation that specifically abolishes SETD5 incorporation into SET3C causes severe developmental impairments in mice. Disruptions of mammalian SET3C components cause highly correlated changes in gene expression – including upregulation of already highly transcribed genes. Together, our results reveal that failure of transcriptional regulation by SET3C is a convergent molecular basis for a family of neurodevelopmental disorders.
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- Authors
- Paton, K. M., Alexander-Howden, B., Hare, J. I., Guy, J., Chhatbar, K., Yudina, M., Morris, S. T., Walls, R., Mathieson, T., Spanos, C., Bird, A. P., & Lyst, M. J.
- Affiliations
- Wellcome Centre for Cell Biology (GB)
- Roslin Institute (GB)
- Corresponding author
- Bird, Adrian P.
- Lyst, Matthew J.
- ORCID
- Venue
- Nature Communications
- Published
- 2026-05-16
- Volume
- 17
- Issue
- 1
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC13385800
- OpenAlex
- W4410879377
- Cited by
- 0
- References
- 81
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Nature Communications (publishedVersion, cc-by)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, cc-by)
- Funders
- Wellcome Trust (107930, 226791)
- Simons Foundation (SFARI-529085)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- SETD5, ANKRD11, neurodevelopmental disorders, missense mutations, transcriptional regulation, molecular scaffolds, gene upregulation
- MeSH terms
- Animals, Humans, Nervous System Diseases, Nuclear Proteins, Repressor Proteins, Mutation, Missense, Mice, Neurodevelopmental Disorders
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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