Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Journal
Nature neuroscience
ISSN: 1546-1726
Titre abrégé: Nat Neurosci
Pays: United States
ID NLM: 9809671
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
received:
01
12
2021
accepted:
28
02
2022
pubmed:
6
4
2022
medline:
9
4
2022
entrez:
5
4
2022
Statut:
ppublish
Résumé
Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the leading reason for brain surgery in children despite considerable disease heterogeneity. In this study, by integrating human brain transcriptomics with whole-exome sequencing of 483 patients with congenital hydrocephalus (CH), we found convergence of CH risk genes in embryonic neuroepithelial stem cells. Of all CH risk genes, TRIM71/lin-41 harbors the most de novo mutations and is most specifically expressed in neuroepithelial cells. Mice harboring neuroepithelial cell-specific Trim71 deletion or CH-specific Trim71 mutation exhibit prenatal hydrocephalus. CH mutations disrupt TRIM71 binding to its RNA targets, causing premature neuroepithelial cell differentiation and reduced neurogenesis. Cortical hypoplasia leads to a hypercompliant cortex and secondary ventricular enlargement without primary defects in CSF circulation. These data highlight the importance of precisely regulated neuroepithelial cell fate for normal brain-CSF biomechanics and support a clinically relevant neuroprogenitor-based paradigm of CH.
Identifiants
pubmed: 35379995
doi: 10.1038/s41593-022-01043-3
pii: 10.1038/s41593-022-01043-3
pmc: PMC9664907
mid: NIHMS1811412
doi:
Substances chimiques
Tripartite Motif Proteins
0
TRIM71 protein, human
EC 2.3.2.27
Ubiquitin-Protein Ligases
EC 2.3.2.27
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
458-473Subventions
Organisme : NICHD NIH HHS
ID : F30 HD106694
Pays : United States
Organisme : NINDS NIH HHS
ID : RF1 NS113278
Pays : United States
Organisme : NIDA NIH HHS
ID : R37 DA023999
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS127879
Pays : United States
Organisme : NIAID NIH HHS
ID : DP2 AI138259
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS035129
Pays : United States
Organisme : NINDS NIH HHS
ID : R21 NS116484
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM136651
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH113257
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD105351
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NIMH NIH HHS
ID : S10 MH124733
Pays : United States
Organisme : NHLBI NIH HHS
ID : R00 HL143036
Pays : United States
Organisme : NINDS NIH HHS
ID : R21 NS121642
Pays : United States
Organisme : NHLBI NIH HHS
ID : K99 HL143036
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS122904
Pays : United States
Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Nature America, Inc.
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