The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
Open accessAbstract
Mutations affecting ciliary components cause ciliopathies. As described here, we investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is essential for ciliogenesis in some, but not all, tissues. Cell types that do not require Tctn1 for ciliogenesis require it to localize select membrane-associated proteins to the cilium, including Arl13b, AC3, Smoothened and Pkd2. Tctn1 forms a complex with multiple ciliopathy proteins associated with Meckel and Joubert syndromes, including Mks1, Tmem216, Tmem67, Cep290, B9d1, Tctn2 and Cc2d2a. Components of this complex co-localize at the transition zone, a region between the basal body and ciliary axoneme. Like Tctn1, loss of Tctn2, Tmem67 or Cc2d2a causes tissue-specific defects in ciliogenesis and ciliary membrane composition. Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome. Thus, a transition zone complex of Meckel and Joubert syndrome proteins regulates ciliary assembly and trafficking, suggesting that transition zone dysfunction is the cause of these ciliopathies.
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Cites
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Cited by
Genes and molecular pathways underpinning ciliopathies
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Self-citationNon-syndromic retinitis pigmentosa
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Primary Cilia and Mammalian Hedgehog Signaling
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A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface
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Self-citationPrimary cilia as dynamic and diverse signalling hubs in development and disease
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Metadata
- Authors
- Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., García-Verdugo, J. M., Katsanis, N., Hildebrandt, F., & Reiter, J. F.
- Venue
- Nature Genetics
- Published
- 2011-07-03
- Volume
- 43
- Issue
- 8
- Pages
- 776-784
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2041964741
- Cited by
- 638
- References
- 51
- FWCI
- 31.97
- Type
- journal article
- Language
- en
- Open access
- green
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- Garcia-Gonzalo, F. R., Corbit, K. C., Sirerol-Piquer, M. S., Ramaswami, G., Otto, E. A., Noriega, T. R., Seol, A. D., Robinson, J. F., Bennett, C. L., Josifova, D. J., García-Verdugo, J. M., Katsanis, N., Hildebrandt, F., & Reiter, J. F. (2011). A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nature Genetics. https://doi.org/10.1038/ng.891
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