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TitleImpairment of DET1 causes neurological defects and lethality in mice and humans.
Journal, issue, pagesProc Natl Acad Sci U S A, Vol. 122, Issue 7, Page e2422631122, Year 2025
Publish dateFeb 18, 2025
AuthorsOzge Karayel / Allison Soung / Hem Gurung / Alexander F Schubert / Susan Klaeger / Marc Kschonsak / Aljazi Al-Maraghi / Ajaz A Bhat / Ammira S Alshabeeb Akil / Debra L Dugger / Joshua D Webster / Dorothy M French / Dhullipala Anand / Naharmal Soni / Khalid A Fakhro / Christopher M Rose / Seth F Harris / Ada Ndoja / Kim Newton / Vishva M Dixit /
PubMed AbstractCOP1 and DET1 are components of an E3 ubiquitin ligase that is conserved from plants to humans. Mammalian COP1 binds to DET1 and is a substrate adaptor for the CUL4A-DDB1-RBX1 RING E3 ligase. ...COP1 and DET1 are components of an E3 ubiquitin ligase that is conserved from plants to humans. Mammalian COP1 binds to DET1 and is a substrate adaptor for the CUL4A-DDB1-RBX1 RING E3 ligase. Transcription factor substrates, including c-Jun, ETV4, and ETV5, are targeted for proteasomal degradation to effect rapid transcriptional changes in response to cues such as growth factor deprivation. Here, we link a homozygous mutation to lethal developmental abnormalities in humans. Experimental cryo-electron microscopy of the DET1 complex with DDB1 and DDA1, as well as co-immunoprecipitation experiments, revealed that DET1 impairs binding to DDB1, thereby compromising E3 ligase function. Accordingly, human-induced pluripotent stem cells homozygous for expressed ETV4 and ETV5 highly, and exhibited defective mitochondrial homeostasis and aberrant caspase-dependent cell death when differentiated into neurons. Neuronal cell death was increased further in the presence of -deficient microglia as compared to WT microglia, indicating that the deleterious effects of the p.R26W mutation may stem from the dysregulation of multiple cell types. Mice lacking died during embryogenesis, while deletion just in neural stem cells elicited hydrocephalus, cerebellar dysplasia, and neonatal lethality. Our findings highlight an important role for DET1 in the neurological development of mice and humans.
External linksProc Natl Acad Sci U S A / PubMed:39937864 / PubMed Central
MethodsEM (single particle)
Resolution2.9 Å
Structure data

46867

9dhd

EMDB-46867, PDB-9dhd:
The ternary complex of DDB1, DDA1, DET1
Method: EM (single particle) / Resolution: 2.9 Å

Source
  • homo sapiens (human)
KeywordsPROTEIN BINDING / E3 ubiquitin ligase system / complex / degradation / cul4-ring

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