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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

Nature genetics | Aug 27, 2011

http://www.ncbi.nlm.nih.gov/pubmed/21725307

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.

Pubmed ID: 21725307 RIS Download

Mesh terms: Animals | Cell Membrane | Cerebellar Diseases | Chickens | Cilia | Ciliary Motility Disorders | Encephalocele | Eye Abnormalities | Humans | Kidney Diseases, Cystic | Membrane Proteins | Mice | Mice, Inbred C57BL | Mice, Knockout | Morphogenesis | Mutation | Organ Specificity | Peptide Fragments | Polycystic Kidney Diseases | Rabbits | Retina | Signal Transduction | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

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Associated grants

  • Agency: NIAMS NIH HHS, Id: AR054396
  • Agency: NIDDK NIH HHS, Id: DK072301
  • Agency: NIDDK NIH HHS, Id: DK075972
  • Agency: NIDDK NIH HHS, Id: DK1068306
  • Agency: NIDDK NIH HHS, Id: DK1069274
  • Agency: NICHD NIH HHS, Id: HD04260
  • Agency: NIAMS NIH HHS, Id: R01 AR054396
  • Agency: NIDDK NIH HHS, Id: R01 DK068306
  • Agency: NIDDK NIH HHS, Id: R01 DK068306-06
  • Agency: NIDDK NIH HHS, Id: R01 DK068306-07
  • Agency: NIDDK NIH HHS, Id: R01 DK072301
  • Agency: NICHD NIH HHS, Id: R01 HD042601
  • Agency: NIGMS NIH HHS, Id: R25-GM56847
  • Agency: NIDDK NIH HHS, Id: RC4 DK090917
  • Agency: NIDDK NIH HHS, Id: RC4 DK090917-01
  • Agency: CCR NIH HHS, Id: RC4-K090917
  • Agency: Howard Hughes Medical Institute, Id:

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