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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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High impact information on Cilia

  • HNF-6 controls a network of genes involved in cilium formation and in hereditary polycystic diseases [1].
  • In the rods and cones of the retina, photoreceptor discs and visual pigments are synthesized in the inner segment and transported to the distal outer segment through a narrow 9+0 connecting cilium; defects in this process lead to retinitis pigmentosa [2].
  • The loss of Rds only appears to affect the shape of the OS, as the inner segment and connecting cilium remain intact [3].
  • Interestingly, most of the identified HNF1beta target gene products colocalize to the primary cilium, a crucial organelle that plays an important role in controlling the proliferation of tubular cells [4].
  • On the basis of shape, size, and location, we identify the kinesin-positive structure as a primary cilium [5].

Biological context of Cilia

  • We have combined Triton X-100 extraction with lectin cytochemistry in the photoreceptor sensory cilium to investigate the relationship between cell surface glycoconjugates and the underlying cytoskeleton, and to identify the cell surface components involved [6].
  • A simple model is proposed to illustrate how the actin-myosin system of the connecting cilium might function to initiate the morphogenesis of a disk membrane [7].
  • Calcineurin is required for PKD-2 ciliary localization, but is not essential for ciliary gene expression, ciliogenesis, or localization of cilium structural components [8].
  • This suggests that the cilium serves as an organizing center for the early steps of the signal transduction pathway that is responsible for monitoring the integrity of the kidney nephron and controlling cell proliferation and differentiation [9].
  • These studies showed that the cilium binding site was located in the AAKPV(E) repeat sequence of P97, referred to as the R1 repeat [10].

Anatomical context of Cilia


Associations of Cilia with chemical compounds

  • WGA binding is not removed by prior digestion with neuraminidase and succinyl-WGA also binds the proximal cilium, suggesting a predominance of N-acetylglucosamine containing glycoconjugates [6].
  • Similar to murine polaris, the OSM-5 protein was found to concentrate at the cilium base and within the cilium axoneme as shown by an OSM-5::GFP translational fusion and immunofluorescence [16].
  • Membrane assembly in retinal photoreceptors. III. Distinct membrane domains of the connecting cilium of developing rods [17].
  • The ability of the cilium adhesin to bind heparin indicates that this molecule plays a multifunctional role in the adherence of M. hyopneumoniae to host respiratory surfaces and therefore has important implications with respect to the pathogenesis of this organism [18].
  • Although beta(1)-integrin on the primary cilium greatly potentiates the fibronectin-induced Ca(2+) signaling in MDCK cells, the flow-dependent Ca(2+) signal is not mediated through activation of beta(1)-integrin [19].

Gene context of Cilia

  • These data suggest that RPGRIP is a structural component of the ciliary axoneme, and one of its functions is to anchor RPGR within the cilium [20].
  • The dyf-3 gene encodes a novel protein required for sensory cilium formation in Caenorhabditis elegans [21].
  • We conclude from an analysis of genetic mosaics that osm-6 acts cell autonomously in affecting cilium structure [22].
  • Recent advances suggest that the PKD1-encoded protein, polycystin-1, is a renal epithelial cell membrane mechanoreceptor, sensing morphogenetic cues in the extracellular environment at the basal surface in focal adhesion complexes; at the lateral surface in cell adherens junctions; and in the lumen at the apical primary cilium [23].
  • Our results are consistent with the previous EM data on osm-3 (p802) mutants that show an accumulation of dense matrix material in the amphid sheath cytoplasm and a shortened distal segment of the amphid channel cilium [24].

Analytical, diagnostic and therapeutic context of Cilia


  1. The transcription factor hepatocyte nuclear factor-6 controls the development of pancreatic ducts in the mouse. Pierreux, C.E., Poll, A.V., Kemp, C.R., Clotman, F., Maestro, M.A., Cordi, S., Ferrer, J., Leyns, L., Rousseau, G.G., Lemaigre, F.P. Gastroenterology (2006) [Pubmed]
  2. Cilia and disease. Eley, L., Yates, L.M., Goodship, J.A. Curr. Opin. Genet. Dev. (2005) [Pubmed]
  3. Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptors. Farjo, R., Skaggs, J.S., Nagel, B.A., Quiambao, A.B., Nash, Z.A., Fliesler, S.J., Naash, M.I. J. Cell Biol. (2006) [Pubmed]
  4. A transcriptional network in polycystic kidney disease. Gresh, L., Fischer, E., Reimann, A., Tanguy, M., Garbay, S., Shao, X., Hiesberger, T., Fiette, L., Igarashi, P., Yaniv, M., Pontoglio, M. EMBO J. (2004) [Pubmed]
  5. Localization of kinesin in cultured cells. Neighbors, B.W., Williams, R.C., McIntosh, J.R. J. Cell Biol. (1988) [Pubmed]
  6. Cytoskeletal-membrane interactions: a stable interaction between cell surface glycoconjugates and doublet microtubules of the photoreceptor connecting cilium. Horst, C.J., Forestner, D.M., Besharse, J.C. J. Cell Biol. (1987) [Pubmed]
  7. Actin filaments and photoreceptor membrane turnover. Williams, D.S. Bioessays (1991) [Pubmed]
  8. Casein Kinase II and Calcineurin Modulate TRPP Function and Ciliary Localization. Hu, J., Bae, Y.K., Knobel, K.M., Barr, M.M. Mol. Biol. Cell (2006) [Pubmed]
  9. Intraflagellar transport and cilia-dependent renal disease: the ciliary hypothesis of polycystic kidney disease. Pazour, G.J. J. Am. Soc. Nephrol. (2004) [Pubmed]
  10. Identification of the cilium binding epitope of the Mycoplasma hyopneumoniae P97 adhesin. Hsu, T., Minion, F.C. Infect. Immun. (1998) [Pubmed]
  11. Estrogen action at endometrial membranes: alterations in luminal surface detectable within seconds. Rambo, C.O., Szego, C.M. J. Cell Biol. (1983) [Pubmed]
  12. Calcium-dependent assembly of centrin-G-protein complex in photoreceptor cells. Pulvermüller, A., Giessl, A., Heck, M., Wottrich, R., Schmitt, A., Ernst, O.P., Choe, H.W., Hofmann, K.P., Wolfrum, U. Mol. Cell. Biol. (2002) [Pubmed]
  13. Polycystins and mechanosensation in renal and nodal cilia. Nauli, S.M., Zhou, J. Bioessays (2004) [Pubmed]
  14. Characterization of Peripherin/rds and Rom-1 Transport in Rod Photoreceptors of Transgenic and Knockout Animals. Lee, E.S., Burnside, B., Flannery, J.G. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  15. Acetylated alpha-tubulin in the connecting cilium of developing rat photoreceptors. Arikawa, K., Williams, D.S. Invest. Ophthalmol. Vis. Sci. (1993) [Pubmed]
  16. The C. elegans homolog of the murine cystic kidney disease gene Tg737 functions in a ciliogenic pathway and is disrupted in osm-5 mutant worms. Haycraft, C.J., Swoboda, P., Taulman, P.D., Thomas, J.H., Yoder, B.K. Development (2001) [Pubmed]
  17. Membrane assembly in retinal photoreceptors. III. Distinct membrane domains of the connecting cilium of developing rods. Besharse, J.C., Forestner, D.M., Defoe, D.M. J. Neurosci. (1985) [Pubmed]
  18. Two domains within the Mycoplasma hyopneumoniae cilium adhesin bind heparin. Jenkins, C., Wilton, J.L., Minion, F.C., Falconer, L., Walker, M.J., Djordjevic, S.P. Infect. Immun. (2006) [Pubmed]
  19. Beta1-integrins in the primary cilium of MDCK cells potentiate fibronectin-induced Ca2+ signaling. Praetorius, H.A., Praetorius, J., Nielsen, S., Frokiaer, J., Spring, K.R. Am. J. Physiol. Renal Physiol. (2004) [Pubmed]
  20. Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. Hong, D.H., Yue, G., Adamian, M., Li, T. J. Biol. Chem. (2001) [Pubmed]
  21. The dyf-3 gene encodes a novel protein required for sensory cilium formation in Caenorhabditis elegans. Murayama, T., Toh, Y., Ohshima, Y., Koga, M. J. Mol. Biol. (2005) [Pubmed]
  22. Analysis of osm-6, a gene that affects sensory cilium structure and sensory neuron function in Caenorhabditis elegans. Collet, J., Spike, C.A., Lundquist, E.A., Shaw, J.E., Herman, R.K. Genetics (1998) [Pubmed]
  23. Polycystic kidney disease: new understanding in the pathogenesis. Wilson, P.D. Int. J. Biochem. Cell Biol. (2004) [Pubmed]
  24. C. elegans osm-3 gene mediating osmotic avoidance behaviour encodes a kinesin-like protein. Shakir, M.A., Fukushige, T., Yasuda, H., Miwa, J., Siddiqui, S.S. Neuroreport (1993) [Pubmed]
  25. Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells. Wolfrum, U., Schmitt, A. Cell Motil. Cytoskeleton (2000) [Pubmed]
  26. The differential distribution of acetylated and detyrosinated alpha-tubulin in the microtubular cytoskeleton and primary cilia of hyaline cartilage chondrocytes. Poole, C.A., Zhang, Z.J., Ross, J.M. J. Anat. (2001) [Pubmed]
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