The Role of Centrosome Distal Appendage Proteins (DAPs) in Nephronophthisis and Ciliogenesis

The primary cilium is found in most mammalian cells and plays a functional role in tissue homeostasis and organ development by modulating key signaling pathways. Ciliopathies are a group of genetically heterogeneous disorders resulting from defects in cilia development and function. Patients with ci...

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Bibliographic Details
Published in:International journal of molecular sciences 2021-11, Vol.22 (22), p.12253
Main Authors: Mansour, Fatma, Boivin, Felix J, Shaheed, Iman B, Schueler, Markus, Schmidt-Ott, Kai M
Format: Article
Language:English
Subjects:
Animals
Appendages
Basal Bodies - metabolism
Cell cycle
Cell Membrane - metabolism
Centrioles - metabolism
centrosome
Centrosome - metabolism
Cilia
Cilia - metabolism
ciliogenesis
Cytoplasmic Vesicles - metabolism
distal appendages
End-stage renal disease
Growth factors
Homeostasis
Humans
Kidney diseases
Kidney Diseases, Cystic - congenital
Kidney Diseases, Cystic - metabolism
Kinases
Mammalian cells
Microtubule-Associated Proteins - metabolism
Models, Biological
Mutation
Nephronophthisis
Phenotypes
Plasma
Proteins
Review
Signal transduction
transition fibers
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Summary:The primary cilium is found in most mammalian cells and plays a functional role in tissue homeostasis and organ development by modulating key signaling pathways. Ciliopathies are a group of genetically heterogeneous disorders resulting from defects in cilia development and function. Patients with ciliopathic disorders exhibit a range of phenotypes that include nephronophthisis (NPHP), a progressive tubulointerstitial kidney disease that commonly results in end-stage renal disease (ESRD). In recent years, distal appendages (DAPs), which radially project from the distal end of the mother centriole, have been shown to play a vital role in primary ciliary vesicle docking and the initiation of ciliogenesis. Mutations in the genes encoding these proteins can result in either a complete loss of the primary cilium, abnormal ciliary formation, or defective ciliary signaling. DAPs deficiency in humans or mice commonly results in NPHP. In this review, we outline recent advances in our understanding of the molecular functions of DAPs and how they participate in nephronophthisis development.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms222212253