A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition (original) (raw)

• Hodges, M.E., Scheumann, N., Wickstead, B., Langdale, J.A. & Gull, K. Reconstructing the evolutionary history of the centriole from protein components. J. Cell Sci. 123, 1407–1413 (2010).
  Article CAS Google Scholar
• Goetz, S.C. & Anderson, K.V. The primary cilium: a signalling centre during vertebrate development. Nat. Rev. Genet. 11, 331–344 (2010).
  Article CAS Google Scholar
• Sorokin, S. Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells. J. Cell Biol. 15, 363–377 (1962).
  Article CAS Google Scholar
• Nachury, M.V., Seeley, E.S. & Jin, H. Trafficking to the ciliary membrane: how to get across the periciliary diffusion barrier? Annu. Rev. Cell Dev. Biol. 26, 59–87 (2010).
  Article CAS Google Scholar
• Sang, L. et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145, 513–528 (2011).
  Article CAS Google Scholar
• Williams, C.L. et al. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J. Cell Biol. 192, 1023–1041 (2011).
  Article CAS Google Scholar
• Craige, B. et al. CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. J. Cell Biol. 190, 927–940 (2010).
  Article CAS Google Scholar
• Hu, Q. et al. A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution. Science 329, 436–439 (2010).
  Article CAS Google Scholar
• Tobin, J.L. & Beales, P.L. The nonmotile ciliopathies. Genet. Med. 11, 386–402 (2009).
  Article CAS Google Scholar
• Hildebrandt, F., Benzing, T. & Katsanis, N. Ciliopathies. N. Engl. J. Med. 364, 1533–1543 (2011).
  Article CAS Google Scholar
• Shaheen, R. et al. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum. Mutat. 32, 573–578 (2011).
  Article CAS Google Scholar
• Leitch, C.C. et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat. Genet. 40, 443–448 (2008).
  Article CAS Google Scholar
• Khanna, H. et al. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat. Genet. 41, 739–745 (2009).
  Article CAS Google Scholar
• Geng, L. et al. Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif. J. Cell Sci. 119, 1383–1395 (2006).
  Article CAS Google Scholar
• Mazelova, J. et al. Ciliary targeting motif VxPx directs assembly of a trafficking module through Arf4. EMBO J. 28, 183–192 (2009).
  Article CAS Google Scholar
• Jin, H. et al. The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell 141, 1208–1219 (2010).
  Article CAS Google Scholar
• Nachury, M.V. et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129, 1201–1213 (2007).
  Article CAS Google Scholar
• Berbari, N.F., Lewis, J.S., Bishop, G.A., Askwith, C.C. & Mykytyn, K. Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia. Proc. Natl. Acad. Sci. USA 105, 4242–4246 (2008).
  Article CAS Google Scholar
• Mykytyn, K. et al. Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc. Natl. Acad. Sci. USA 101, 8664–8669 (2004).
  Article CAS Google Scholar
• Corbit, K.C. et al. Vertebrate Smoothened functions at the primary cilium. Nature 437, 1018–1021 (2005).
  Article CAS Google Scholar
• Boehlke, C. et al. Primary cilia regulate mTORC1 activity and cell size through Lkb1. Nat. Cell Biol. 12, 1115–1122 (2010).
  Article CAS Google Scholar
• Reiter, J.F. & Skarnes, W.C. Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. Genes Dev. 20, 22–27 (2006).
  Article CAS Google Scholar
• Caspary, T., Larkins, C.E. & Anderson, K.V. The graded response to Sonic Hedgehog depends on cilia architecture. Dev. Cell 12, 767–778 (2007).
  Article CAS Google Scholar
• Cevik, S. et al. Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans. J. Cell Biol. 188, 953–969 (2010).
  Article CAS Google Scholar
• Weatherbee, S.D., Niswander, L.A. & Anderson, K.V. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum. Mol. Genet. 18, 4565–4575 (2009).
  Article CAS Google Scholar
• Jonassen, J.A., San Agustin, J., Follit, J.A. & Pazour, G.J. Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease. J. Cell Biol. 183, 377–384 (2008).
  Article CAS Google Scholar
• Follit, J.A. et al. Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex. PLoS Genet. 4, e1000315 (2008).
  Article Google Scholar
• Huangfu, D. & Anderson, K.V. Cilia and Hedgehog responsiveness in the mouse. Proc. Natl. Acad. Sci. USA 102, 11325–11330 (2005).
  Article CAS Google Scholar
• Liu, A., Wang, B. & Niswander, L.A. Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors. Development 132, 3103–3111 (2005).
  Article CAS Google Scholar
• Bénazet, J.D. & Zeller, R. Vertebrate limb development: moving from classical morphogen gradients to an integrated 4-dimensional patterning system. Cold Spring Harb. Perspect. Biol. 1, a001339 (2009).
  Article Google Scholar
• Torres, J.Z., Miller, J.J. & Jackson, P.K. High-throughput generation of tagged stable cell lines for proteomic analysis. Proteomics 9, 2888–2891 (2009).
  Article CAS Google Scholar
• Hopp, K. et al. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. Hum. Mol. Genet. 20, 2524–2534 (2011).
  Article CAS Google Scholar
• Won, J. et al. NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development. Hum. Mol. Genet. 20, 482–496 (2011).
  Article CAS Google Scholar
• Holopainen, J.M. et al. Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells. Biochemistry 49, 7439–7447 (2010).
  Article CAS Google Scholar
• Cook, S.A. et al. A mouse model for Meckel syndrome type 3. J. Am. Soc. Nephrol. 20, 753–764 (2009).
  Article CAS Google Scholar
• Dawe, H.R. et al. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet. 16, 173–186 (2007).
  Article CAS Google Scholar
• Bishop, G.A., Berbari, N.F., Lewis, J. & Mykytyn, K. Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain. J. Comp. Neurol. 505, 562–571 (2007).
  Article Google Scholar
• Pazour, G.J., San Agustin, J.T., Follit, J.A., Rosenbaum, J.L. & Witman, G.B. Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in Orpk mice with polycystic kidney disease. Curr. Biol. 12, R378–R380 (2002).
  Article CAS Google Scholar
• Chen, J.K., Taipale, J., Young, K.E., Maiti, T. & Beachy, P.A. Small molecule modulation of Smoothened activity. Proc. Natl. Acad. Sci. USA 99, 14071–14076 (2002).
  Article CAS Google Scholar
• Hildebrandt, F. et al. A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet. 5, e1000353 (2009).
  Article Google Scholar
• Cantagrel, V. et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am. J. Hum. Genet. 83, 170–179 (2008).
  Article CAS Google Scholar
• Vierkotten, J., Dildrop, R., Peters, T., Wang, B. & Rüther, U. Ftm is a novel basal body protein of cilia involved in Shh signalling. Development 134, 2569–2577 (2007).
  Article CAS Google Scholar
• Lechtreck, K.F. et al. The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella. J. Cell Biol. 187, 1117–1132 (2009).
  Article CAS Google Scholar
• Geimer, S. & Melkonian, M. The ultrastructure of the Chlamydomonas reinhardtii basal apparatus: identification of an early marker of radial asymmetry inherent in the basal body. J. Cell Sci. 117, 2663–2674 (2004).
  Article CAS Google Scholar
• Nagy, A., Gertsenstein, M., Vintersten, K. & Behringer, R. Manipulating the Mouse Embryo: a Laboratory Manual 3rd edn. (Cold Spring Harbor Lab Press, Cold Spring Harbor, New York, USA, 2002).
• Kruglyak, L. & Daly, M.J. Linkage thresholds for two-stage genome scans. Am. J. Hum. Genet. 62, 994–997 (1998).
  Article CAS Google Scholar
• Strauch, K. et al. Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization. Am. J. Hum. Genet. 66, 1945–1957 (2000).
  Article CAS Google Scholar
• Gudbjartsson, D.F., Jonasson, K., Frigge, M.L. & Kong, A. Allegro, a new computer program for multipoint linkage analysis. Nat. Genet. 25, 12–13 (2000).
  Article CAS Google Scholar
• Otto, E.A. et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat. Genet. 42, 840–850 (2010).
  Article CAS Google Scholar