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PMID:20230748

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Citation

Singla, V, Romaguera-Ros, M, Garcia-Verdugo, JM and Reiter, JF (2010) Ofd1, a human disease gene, regulates the length and distal structure of centrioles. Dev. Cell 18:410-24

Abstract

Centrosomes and their component centrioles represent the principal microtubule organizing centers of animal cells. Here, we show that the gene underlying orofaciodigital syndrome 1, Ofd1, is a component of the distal centriole that controls centriole length. In the absence of Ofd1, distal regions of centrioles, but not procentrioles, elongate abnormally. These long centrioles are structurally similar to normal centrioles but contain destabilized microtubules with abnormal posttranslational modifications. Ofd1 is also important for centriole distal appendage formation and centriolar recruitment of the intraflagellar transport protein Ift88. To model OFD1 syndrome in embryonic stem cells, we replaced the Ofd1 gene with missense alleles from human OFD1 patients. Distinct disease-associated mutations cause different degrees of excessive or decreased centriole elongation, all of which are associated with diminished ciliogenesis. Our results indicate that Ofd1 acts at the distal centriole to build distal appendages, recruit Ift88, and stabilize centriolar microtubules at a defined length.

Links

PubMed PMC2841064 Online version:10.1016/j.devcel.2009.12.022

Keywords

Animals; Cell Cycle Proteins/genetics; Cell Cycle Proteins/metabolism; Cell Line; Centrioles/metabolism; Centrioles/ultrastructure; Embryonic Stem Cells/metabolism; G2 Phase; Humans; Mice; Microtubule-Associated Proteins/genetics; Microtubule-Associated Proteins/metabolism; Microtubules/metabolism; Models, Biological; Mutation, Missense; Orofaciodigital Syndromes/genetics; Phosphoproteins/genetics; Phosphoproteins/metabolism; Proteins/genetics; Proteins/metabolism; Recombinant Proteins/genetics; Recombinant Proteins/metabolism; Tumor Suppressor Proteins/genetics; Tumor Suppressor Proteins/metabolism

Significance

Annotations

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

HUMAN:OFD1

located_in

GO:0005929: cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:OFD1

located_in

GO:0005814: centriole

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:OFD1

located_in

GO:0036064: ciliary basal body

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:IFT88

located_in

GO:0005929: cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:IFT88

located_in

GO:0005814: centriole

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:IFT88

located_in

GO:0036064: ciliary basal body

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:OFD1

NOT|involved_in

GO:0000278: mitotic cell cycle

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:OFD1

NOT|involved_in

GO:0007099: centriole replication

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:OFD1

located_in

GO:0005929: cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:OFD1

located_in

GO:0005814: centriole

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:OFD1

located_in

GO:0036064: ciliary basal body

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:OFD1

enables

GO:0043014: alpha-tubulin binding

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

MOUSE:OFD1

enables

GO:0043015: gamma-tubulin binding

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

MOUSE:OFD1

involved_in

GO:0060271: cilium assembly

ECO:0000314: direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:OFD1

NOT|involved_in

GO:0090307: mitotic spindle assembly

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:IFT88

part_of

GO:0005929: cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:IFT88

part_of

GO:0036064: ciliary basal body

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:IFT88

part_of

GO:0005814: centriole

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete


See also

References

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