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PMID:21422230

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Citation

Williams, CL, Li, C, Kida, K, Inglis, PN, Mohan, S, Semenec, L, Bialas, NJ, Stupay, RM, Chen, N, Blacque, OE, Yoder, BK and Leroux, MR (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J. Cell Biol. 192:1023-41

Abstract

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.

Links

PubMed PMC3063147 Online version:10.1083/jcb.201012116

Keywords

Animals; Caenorhabditis elegans/physiology; Caenorhabditis elegans Proteins/genetics; Caenorhabditis elegans Proteins/metabolism; Cilia/physiology; Cilia/ultrastructure; Ciliary Motility Disorders/genetics; Ciliary Motility Disorders/pathology; Ciliary Motility Disorders/physiopathology; Encephalocele/genetics; Encephalocele/pathology; Encephalocele/physiopathology; Humans; Kidney Diseases, Cystic/congenital; Kidney Diseases, Cystic/genetics; Kidney Diseases, Cystic/pathology; Kidney Diseases, Cystic/physiopathology; Membrane Proteins/genetics; Membrane Proteins/metabolism; Polycystic Kidney Diseases/genetics; Polycystic Kidney Diseases/pathology; Polycystic Kidney Diseases/physiopathology; Protein Isoforms/genetics; Protein Isoforms/metabolism; Rats; Recombinant Fusion Proteins/genetics; Recombinant Fusion Proteins/metabolism

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

CAEEL:G5ECP0

located_in

GO:0035869: ciliary transition zone

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

CAEEL:G5ECP0

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00020100

P

Seeded From UniProt

complete

CAEEL:G5ECP0

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00018042

P

Seeded From UniProt

complete

CAEEL:G5ECP0

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00019364

P

Seeded From UniProt

complete

CAEEL:G5ECP0

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00010642

P

Seeded From UniProt

complete

CAEEL:G5ECP0

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00007490

P

Seeded From UniProt

complete

CAEEL:G5ECP0

involved_in

GO:1904491: protein localization to ciliary transition zone

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00010642

P

Seeded From UniProt

complete

HUMAN:M0QY88

located_in

GO:0035869: ciliary transition zone

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

CAEEL:NPHP1

located_in

GO:0035869: ciliary transition zone

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

CAEEL:FTM

located_in

GO:0035869: ciliary transition zone

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

CAEEL:FTM

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000315: mutant phenotype evidence used in manual assertion

WB:WBVar00251878

P

Seeded From UniProt

complete

CAEEL:FTM

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00010642

P

Seeded From UniProt

complete

CAEEL:FTM

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00021416

P

Seeded From UniProt

complete

CAEEL:FTM

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00019364

P

Seeded From UniProt

complete

CAEEL:FTM

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00011261

P

Seeded From UniProt

complete

CAEEL:FTM

involved_in

GO:1904491: protein localization to ciliary transition zone

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

CAEEL:FTM

involved_in

GO:0022615: protein to membrane docking

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

CAEEL:Q20046

located_in

GO:0035869: ciliary transition zone

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

CAEEL:Q20046

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00011261

P

Seeded From UniProt

complete

CAEEL:Q21191

located_in

GO:0035869: ciliary transition zone

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

CAEEL:Q21191

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00011261

P

Seeded From UniProt

complete

CAEEL:Q21191

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00007490

P

Seeded From UniProt

complete

CAEEL:Q21191

involved_in

GO:1904491: protein localization to ciliary transition zone

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

CAEEL:Q21303

located_in

GO:0035869: ciliary transition zone

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

CAEEL:Q21303

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00007490

P

Seeded From UniProt

complete

CAEEL:Q21303

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00010898

P

Seeded From UniProt

complete

CAEEL:Q21303

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00011261

P

Seeded From UniProt

complete

CAEEL:Q21303

involved_in

GO:1904491: protein localization to ciliary transition zone

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00010898

P

Seeded From UniProt

complete

CAEEL:Q966I6

located_in

GO:1990075: periciliary membrane compartment

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

CAEEL:Q9N423

located_in

GO:0035869: ciliary transition zone

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

CAEEL:Q9N423

involved_in

GO:1905515: non-motile cilium assembly

ECO:0000316: genetic interaction evidence used in manual assertion

WB:WBGene00007490

P

Seeded From UniProt

complete

CAEEL:Q9N423

involved_in

GO:1904491: protein localization to ciliary transition zone

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

CAEEL:Q9XXK7

located_in

GO:1990075: periciliary membrane compartment

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete


See also

References

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