Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.

Details

Serval ID
serval:BIB_3FB8F54D81E3
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.
Journal
Science
Author(s)
O'Neill A.C., Uzbas F., Antognolli G., Merino F., Draganova K., Jäck A., Zhang S., Pedini G., Schessner J.P., Cramer K., Schepers A., Metzger F., Esgleas M., Smialowski P., Guerrini R., Falk S., Feederle R., Freytag S., Wang Z., Bahlo M., Jungmann R., Bagni C., Borner GHH, Robertson S.P., Hauck S.M., Götz M.
ISSN
1095-9203 (Electronic)
ISSN-L
0036-8075
Publication state
Published
Issued date
17/06/2022
Peer-reviewed
Oui
Volume
376
Number
6599
Pages
eabf9088
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
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.
Keywords
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
Create date
05/07/2022 11:22
Last modification date
04/10/2022 5:38
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