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MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

The Journal of cell biology, 2011-03, Vol.192 (6), p.1023-1041 [Peer Reviewed Journal]

2011 Williams et al. 2011 ;ISSN: 0021-9525 ;EISSN: 1540-8140 ;DOI: 10.1083/jcb.201012116 ;PMID: 21422230 ;CODEN: JCLBA3

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Title:
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
Author: Williams, Corey L ; Li, Chunmei ; Kida, Katarzyna ; Inglis, Peter N ; Mohan, Swetha ; Semenec, Lucie ; Bialas, Nathan J ; Stupay, Rachel M ; Chen, Nansheng ; Blacque, Oliver E ; Yoder, Bradley K ; Leroux, Michel R
Subjects: Animals ; Caenorhabditis elegans - physiology ; Caenorhabditis elegans Proteins - genetics ; Caenorhabditis elegans Proteins - metabolism ; Cellular biology ; Cilia - physiology ; Cilia - ultrastructure ; Ciliary Motility Disorders - genetics ; Ciliary Motility Disorders - pathology ; Ciliary Motility Disorders - physiopathology ; Encephalocele - genetics ; Encephalocele - pathology ; Encephalocele - physiopathology ; Genetic disorders ; Genotype & phenotype ; Humans ; Kidney Diseases, Cystic - congenital ; Kidney Diseases, Cystic - genetics ; Kidney Diseases, Cystic - pathology ; Kidney Diseases, Cystic - physiopathology ; Membrane Proteins - genetics ; Membrane Proteins - metabolism ; Membranes ; Nematodes ; Polycystic Kidney Diseases - genetics ; Polycystic Kidney Diseases - pathology ; Polycystic Kidney Diseases - physiopathology ; Protein Isoforms - genetics ; Protein Isoforms - metabolism ; Proteins ; Rats ; Recombinant Fusion Proteins - genetics ; Recombinant Fusion Proteins - metabolism
Is Part Of: The Journal of cell biology, 2011-03, Vol.192 (6), p.1023-1041
Description: Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and related ciliopathies present with overlapping phenotypes and display considerable allelism between at least twelve different genes of largely unexplained function. We demonstrate that the conserved C. elegans B9 domain (MKS-1, MKSR-1, and MKSR-2), MKS-3/TMEM67, MKS-5/RPGRIP1L, MKS-6/CC2D2A, NPHP-1, and NPHP-4 proteins exhibit essential, collective functions at the transition zone (TZ), an underappreciated region at the base of all cilia characterized by Y-shaped assemblages that link axoneme microtubules to surrounding membrane. These TZ proteins functionally interact as members of two distinct modules, which together contribute to an early ciliogenic event. Specifically, MKS/MKSR/NPHP proteins establish basal body/TZ membrane attachments before or coinciding with intraflagellar transport-dependent axoneme extension and subsequently restrict accumulation of nonciliary components within the ciliary compartment. Together, our findings uncover a unified role for eight TZ-localized proteins in basal body anchoring and establishing a ciliary gate during ciliogenesis, and suggest that disrupting ciliary gate function contributes to phenotypic features of the MKS/NPHP disease spectrum.
Publisher: United States: Rockefeller University Press
Language: English
Identifier: ISSN: 0021-9525
EISSN: 1540-8140
DOI: 10.1083/jcb.201012116
PMID: 21422230
CODEN: JCLBA3
Source: Freely Accessible Journals
Open Access: PubMed Central
MEDLINE

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MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

2011 Williams et al. 2011 ;ISSN: 0021-9525 ;EISSN: 1540-8140 ;DOI: 10.1083/jcb.201012116 ;PMID: 21422230 ;CODEN: JCLBA3

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