Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.
Détails
ID Serval
serval:BIB_3FB8F54D81E3
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.
Périodique
Science
ISSN
1095-9203 (Electronic)
ISSN-L
0036-8075
Statut éditorial
Publié
Date de publication
17/06/2022
Peer-reviewed
Oui
Volume
376
Numéro
6599
Pages
eabf9088
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Publication Status: ppublish
Résumé
The centrosome provides an intracellular anchor for the cytoskeleton, regulating cell division, cell migration, and cilia formation. We used spatial proteomics to elucidate protein interaction networks at the centrosome of human induced pluripotent stem cell-derived neural stem cells (NSCs) and neurons. Centrosome-associated proteins were largely cell type-specific, with protein hubs involved in RNA dynamics. Analysis of neurodevelopmental disease cohorts identified a significant overrepresentation of NSC centrosome proteins with variants in patients with periventricular heterotopia (PH). Expressing the PH-associated mutant pre-mRNA-processing factor 6 (PRPF6) reproduced the periventricular misplacement in the developing mouse brain, highlighting missplicing of transcripts of a microtubule-associated kinase with centrosomal location as essential for the phenotype. Collectively, cell type-specific centrosome interactomes explain how genetic variants in ubiquitous proteins may convey brain-specific phenotypes.
Mots-clé
Alternative Splicing, Animals, Brain/abnormalities, Centrosome/metabolism, Humans, Induced Pluripotent Stem Cells, Mice, Microtubules/metabolism, Neural Stem Cells, Neurogenesis, Neurons/metabolism, Periventricular Nodular Heterotopia/metabolism, Protein Interaction Maps, Proteome/metabolism, RNA Splicing Factors/metabolism, Transcription Factors/metabolism
Pubmed
Création de la notice
05/07/2022 11:22
Dernière modification de la notice
04/10/2022 5:38