New functions of B9D2 in tight junctions and epithelial polarity.
Tight Junctions
/ metabolism
Humans
Animals
Cell Polarity
Epithelial Cells
/ metabolism
Cilia
/ metabolism
MARVEL Domain Containing 2 Protein
/ metabolism
Mice
Signal Transduction
Eye Abnormalities
/ genetics
Retina
/ metabolism
Kidney Diseases, Cystic
/ metabolism
Cerebellum
/ metabolism
Retinitis Pigmentosa
/ metabolism
Abnormalities, Multiple
/ genetics
Ciliary Motility Disorders
Encephalocele
Polycystic Kidney Diseases
B9 domain proteins
Bile ducts morphogenesis
Ciliopathy
Tight junctions
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
25 Oct 2024
25 Oct 2024
Historique:
received:
09
07
2024
accepted:
07
10
2024
medline:
26
10
2024
pubmed:
26
10
2024
entrez:
25
10
2024
Statut:
epublish
Résumé
Ciliopathies are a diverse group of disorders resulting from abnormalities in the development or function of multiple organs. While significant research has clarified the role of the primary cilium in transducing numerous signalling pathways, elucidating causes of neuronal and skeletal development disorders, the origins of other ciliopathy-related conditions, such as hepatic fibrocystic diseases, remain elusive. Additionally, attempts to correlate specific ciliary proteins with distinct phenotypes have been largely unsuccessful due to the variable and overlapping symptoms of ciliopathies. This study aims to elucidate the extraciliary roles of the protein B9D2 in the development of biliary dysgenesis, a condition present in Meckel-Gruber and Joubert syndromes caused by mutations in this protein. Traditionally, B9D2 is known for its role at the transition zone of the primary cilium in the transduction of signalling pathways notably Wingless and Hedgehog. Our work demonstrates that before ciliogenesis occurs, B9D2 is crucial for the maturation and maintenance of tight junctions ensuring epithelial barrier tightness and appropriate biliary lumen formation. This study provides new insights into the mechanisms underlying biliary dysgenesis in hepatic ciliopathies, suggesting that further exploration of the non-ciliary functions of proteins involved in ciliopathies could lead to a better understanding and treatment of these complex disorders.
Identifiants
pubmed: 39455645
doi: 10.1038/s41598-024-75577-w
pii: 10.1038/s41598-024-75577-w
doi:
Substances chimiques
MARVEL Domain Containing 2 Protein
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
25293Informations de copyright
© 2024. The Author(s).
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