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TitleSkraban-Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly.
Journal, issue, pagesFEBS Lett, Vol. 598, Issue 9, Page 978-994, Year 2024
Publish dateApr 4, 2024
AuthorsAnnette Gross / Judith Müller / Jakub Chrustowicz / Alexander Strasser / Karthik V Gottemukkala / Dawafuti Sherpa / Brenda A Schulman / Peter J Murray / Arno F Alpi /
PubMed AbstractPatients with Skraban-Deardorff syndrome (SKDEAS), a neurodevelopmental syndrome associated with a spectrum of developmental and intellectual delays and disabilities, harbor diverse mutations in ...Patients with Skraban-Deardorff syndrome (SKDEAS), a neurodevelopmental syndrome associated with a spectrum of developmental and intellectual delays and disabilities, harbor diverse mutations in WDR26, encoding a subunit of the multiprotein CTLH E3 ubiquitin ligase complex. Structural studies revealed that homodimers of WDR26 bridge two core-CTLH E3 complexes to generate giant, hollow oval-shaped supramolecular CTLH E3 assemblies. Additionally, WDR26 mediates CTLH E3 complex binding to subunit YPEL5 and functions as substrate receptor for the transcriptional repressor HBP1. Here, we mapped SKDEAS-associated mutations on a WDR26 structural model and tested their functionality in complementation studies using genetically engineered human cells lacking CTLH E3 supramolecular assemblies. Despite the diversity of mutations, 15 of 16 tested mutants impaired at least one CTLH E3 complex function contributing to complex assembly and interactions, thus providing first mechanistic insights into SKDEAS pathology.
External linksFEBS Lett / PubMed:38575527 / PubMed Central
MethodsEM (single particle)
Resolution6.7 Å
Structure data

EMDB-19039: Map of YPEL5-bound WDR26 dimer obtained by focused refinement of the WDR26-CTLH subcomplex
Method: EM (single particle) / Resolution: 6.7 Å

Source
  • Homo sapiens (human)

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