Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
22 Aug 2024
22 Aug 2024
Historique:
received:
09
08
2023
accepted:
23
07
2024
medline:
23
8
2024
pubmed:
23
8
2024
entrez:
22
8
2024
Statut:
epublish
Résumé
Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome. We demonstrate that DENND5A interacts with Pals1/MUPP1, components of the Crumbs apical polarity complex required for symmetrical division of neural progenitor cells. Human induced pluripotent stem cells lacking DENND5A fail to undergo symmetric cell division with an inherent propensity to differentiate into neurons. These phenotypes result from misalignment of the mitotic spindle in apical neural progenitors. Cells lacking DENND5A orient away from the proliferative apical domain surrounding the ventricles, biasing daughter cells towards a more fate-committed state, ultimately shortening the period of neurogenesis. This study provides a mechanism for DENND5A-related DEE that may be generalizable to other developmental conditions and provides variant-specific clinical information for physicians and families.
Identifiants
pubmed: 39174524
doi: 10.1038/s41467-024-51310-z
pii: 10.1038/s41467-024-51310-z
doi:
Substances chimiques
Membrane Proteins
0
Guanine Nucleotide Exchange Factors
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
7239Subventions
Organisme : Deutscher Akademischer Austauschdienst (German Academic Exchange Service)
ID : 57166498
Organisme : Ontario Genomics Institute (OGI)
ID : OGI-147
Organisme : Ontario Genomics Institute (OGI)
ID : OGI-147
Organisme : Ontario Genomics Institute (OGI)
ID : OGI-147
Organisme : U.S. Department of Health & Human Services | NIH | Office of Strategic Coordination (OSC)
ID : U01HG007943
Organisme : U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS)
ID : NS105078
Organisme : U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI)
ID : HG011758
Investigateurs
Heidi Cope
(H)
Informations de copyright
© 2024. The Author(s).
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