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TitleA de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome.
Journal, issue, pagesNat Commun, Vol. 16, Issue 1, Page 10472, Year 2025
Publish dateNov 25, 2025
AuthorsLouise Fairall / Kristupas Sirvydis / Robert E Turnbull / Suzan Jg Knottnerus / Oksana Gonchar / Frederick W Muskett / Rebekah Jukes-Jones / Lonneke van Brussel / Ellen van de Geer / Koen van Gassen / Paul Badenhorst / Diana Johnson / Paulien A Terhal / Peter M van Hasselt / Richard H van Jaarsveld / John Wr Schwabe /
PubMed AbstractMIDEAS is a scaffold protein that, together with DNTTIP1, mediates assembly of the MiDAC histone deacetylase complex. Mice lacking MiDAC die before birth suggesting a key developmental function. ...MIDEAS is a scaffold protein that, together with DNTTIP1, mediates assembly of the MiDAC histone deacetylase complex. Mice lacking MiDAC die before birth suggesting a key developmental function. Here, we report two unrelated individuals, with a multisystem disorder characterised by delayed speech development, joint contractures, dysmorphic features and dysmotility of the gut. Both individuals have the same de novo heterozygous missense variant in MIDEAS (p.Tyr654Ser). A cryoEM structure of the MiDAC complex reveals that this amino acid is located in a conserved auto-inhibitory loop that covers the active site of the deacetylase enzyme. We suggest that the variant results in loop displacement leading to elevated deacetylase activity. In support, we observe reciprocal gene expression changes in patient fibroblasts compared with a cell line following rapid MiDAC degradation. Our results establish MIDEAS as a dominant monogenic disease gene and that hyperactivity of the MiDAC complex results in a characteristic multisystem disorder.
External linksNat Commun / PubMed:41290615 / PubMed Central
MethodsEM (single particle)
Resolution2.92 Å
Structure data

53567

9r4i

EMDB-53567, PDB-9r4i:
An auto inhibitory loop in the MiDAC histone deacetylase complex
Method: EM (single particle) / Resolution: 2.92 Å

Chemicals

ChemComp-IHP:
INOSITOL HEXAKISPHOSPHATE

ChemComp-ZN:
Unknown entry

ChemComp-K:
Unknown entry

Source
  • homo sapiens (human)
KeywordsGENE REGULATION / HDAC1 DNTTIP1 MIDEAS histone deacetylase complex

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