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Cited by 71Genetics and Neurodevelopmental DisordersGenetic Syndromes and ImprintingUbiquitin and proteasome pathways

Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology

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Pandya, Nikhil J., Wang, Congwei, Costa, Veronica, Lopatta, Paul, Meier, Sonja, Zampeta, F. Isabella, Punt, A. Mattijs, Mientjes, Edwin +15 more·2021·Cell Reports Medicine
DOI 10.1016/j.xcrm.2021.100360PMC PMC8385294
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Abstract

, a ubiquitin protein ligase E3A. Here, we study neurons derived from patients with AS and neurotypical individuals, and reciprocally modulate UBE3A using antisense oligonucleotides. Unbiased proteomics reveal proteins that are regulated by UBE3A in a disease-specific manner, including PEG10, a retrotransposon-derived GAG protein. PEG10 protein increase, but not RNA, is dependent on UBE3A and proteasome function. PEG10 binds to both RNA and ataxia-associated proteins (ATXN2 and ATXN10), localizes to stress granules, and is secreted in extracellular vesicles, modulating vesicle content. Rescue of AS patient-derived neurons by UBE3A reinstatement or PEG10 reduction reveals similarity in transcriptome changes. Overexpression of PEG10 during mouse brain development alters neuronal migration, suggesting that it can affect brain development. These findings imply that PEG10 is a secreted human UBE3A target involved in AS pathophysiology.

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  • Loss of UBE3A in neurons leads to impaired ubiquitin-dependent protein degradation and widespread dysregulation of substrates important for synaptic function and neuronal excitability, consistent with a multisystem model of syndromic ASD.

    “Loss of UBE3A in neurons leads to impaired ubiquitin-dependent protein degradation and widespread dysregulation of substrates that are important for synaptic function and neuronal excitability, consistent with a multisystem model of syndromic ASD (Pandya et al., 2021).”

    From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Pandya et al., 2021

    The Results (page unavailable) show that UBE3A loss in Angelman syndrome neurons changes the abundance of several proteins and that degradation of PEG10-RF1/2 depends on UBE3A. They do not establish widespread impairment of ubiquitin-dependent degradation or dysregulation of synaptic-function and excitability substrates; the Results report no significant alteration in synaptic markers. The paper also does not present these findings as a multisystem model of syndromic ASD. (LLM, conf=0.86)

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Authors
Pandya, N. J., Wang, C., Costa, V., Lopatta, P., Meier, S., Zampeta, F. I., Punt, A. M., Mientjes, E., Grossen, P., Distler, T., Tzouros, M., Martí, Y., Banfai, B., Patsch, C., Rasmussen, S., Hoener, M., Berrera, M., Kremer, T., Dunkley, T., Ebeling, M., Distel, B., Elgersma, Y., & Jagasia, R.
Affiliations
  • F. Hoffmann-La Roche AG (CH)
  • Erasmus MC (NL)
Corresponding author
  • Pandya, Nikhil J.
  • Jagasia, Ravi
ORCID
Venue
Cell Reports Medicine
Publisher
Elsevier BV
Published
2021-08
Volume
2
Issue
8
Pages
100360
ISSN
2666-3791 (ISSN-L)
DOI
10.1016/j.xcrm.2021.100360
PMC
PMC8385294
OpenAlex
W3194032651
Cited by
71
References
9
Citations by year
2026: 16 · 2025: 12 · 2024: 23 · 2023: 12 · 2022: 7 · 2021: 1
FWCI
6.08
Type
journal article
Language
en
Open access
Licence
Locations
  • Cell Reports Medicine (publishedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
  • Pure Amsterdam UMC (acceptedVersion, cc-by-nc-nd)
  • Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
  • RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
Funders
  • Boston Children's Hospital
  • Roche (WO2020/148310)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ubiquitin and proteasome pathways
Keywords
PEG10, UBE3A, Angelman syndrome, secreted proteins, extracellular vesicles, stress granules, ATXN2, proteasome, antisense oligonucleotides, neuronal migration, brain development, transcriptome changes, patient-derived neurons
MeSH terms
Extracellular Vesicles, Protein Domains, Stress Granules, Animals, Cell Movement, Child, Preschool, DNA-Binding Proteins, Female, Humans, Male, Mice, Inbred C57BL, Neurons, Retroviridae, Gene Products, gag, RNA-Binding Proteins, Angelman Syndrome, Retroelements, Ubiquitin-Protein Ligases, Proteasome Endopeptidase Complex, Apoptosis Regulatory Proteins, Mice, Induced Pluripotent Stem Cells, Transcriptome

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