Cilia and diseases

BioScience

Volumn 64, Issue 12, 2014, Pages 1126-1137

  Brown, Jason M ^a   Witman, George B ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

Blindness; Cilia; Ciliopathies; Cystic kidney disease; Flagella

Indexed keywords

EID: 84922438982     PISSN: 00063568     EISSN: 15253244     Source Type: Journal    
DOI: 10.1093/biosci/biu174     Document Type: Review

References (66)

1. Absalon S, Blisnick T, Kohl L, Toutirais G, Dore G, Julkowska D, Tavenet A, Bastin P. 2008. Intraflagellar transport and functional analysis of genes required for flagellum formation in trypanosomes. Molecular Biology of the Cell 19: 929-944.
2. Afzelius BA. 1959. Electron microscopy of the sperm tail; results obtained with a new fixative. Journal of Biophysical and Biochemical Cytology 5: 269-278.
3. -. 1976. A human syndrome caused by immotile cilia. Science 193: 317-319.
4. Aldahmesh MA, et al. 2014. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Human Molecular Genetics 23: 3307-3315.
5. Badano JL, Mitsuma N, Beales PL, Katsanis N. 2006. The ciliopathies: An emerging class of human genetic disorders. Annual Review of Genomics and Human Genetics 7: 125-148.
6. Barr MM, Sternberg PW. 1999. A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans. Nature 401: 386-389.
7. Bloodgood RA. 2009. From central to rudimentary to primary: The history of an underappreciated organelle whose time has come. The primary cilium. Methods in Cell Biology 94: 3-52.
8. Brown JM, Marsala C, Kosoy R, Gaertig J. 1999. Kinesin-II is preferentially targeted to assembling cilia and is required for ciliogenesis and normal cytokinesis in Tetrahymena. Molecular Biology of the Cell 10: 3081-3096.
9. Craige B, Tsao CC, Diener DR, Hou Y, Lechtreck KF, Rosenbaum JL, Witman GB. 2010. CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. Journal of Cell Biology 190: 927-940.
10. Crouse JA, Lopes VS, Sanagustin JT, Keady BT, Williams DS, Pazour GS. 2014. Distinct functions for IFT140 and IFT20 in opsin transport. Cytoskeleton 71: 302-310.
11. Damerla RR, Gabriel GC, Li Y, Klena NT, Liu X, Chen Y, Cui C, Pazour GJ, Lo C W. 2014. Role of cilia in structural birth defects: Insights from cili-opathy mutant mouse models. Birth Defects Research C 102: 115-125.
12. Den Hollander AI, et al. 2006. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. American Journal of Human Genetics 79: 556-561.
13. Drummond IA. 2012. Cilia functions in development. Current Opinion in Cell Biology 24: 24-30.
14. Fliegauf M, Benzing T, Omran H. 2007. When cilia go bad: Cilia defects and ciliopathies. Nature Reviews Molecular Cell Biology 8: 880-893.
15. Fogelgren B, Lin SY, Zuo X, Jaffe KM, Park KM, Reichert RJ, Bell PD, Burdine RD, Lipschutz JH. 2011. The exocyst protein Sec10 interacts with Polycystin-2 and knockdown causes PKD-phenotypes. PLOS Genetics 7 (art. e1001361).
16. Follit JA, San Agustin JT, Jonassen JA, Huang T, Rivera-Perez JA, Tremblay KD, Pazour GJ. 2014. Arf4 is required for Mammalian development but dispensable for ciliary assembly. PLOS Genetics 10 (art. e1004170).
17. Forsythe E, Beales PL. 2013. Bardet-Biedl syndrome. European Journal of Human Genetics 21: 8-13.
18. Garcia-Gonzalo FR, et al. 2011. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nature Genetics 43: 776-784.
19. Gibbons IR, Rowe AJ. 1965. Dynein: A protein with adenosine triphospha-tase activity from cilia. Science 149: 424-426.
20. Goetz SC, Anderson K V. 2010. The primary cilium: A signalling centre during vertebrate development. Nature Reviews Genetics 11: 331-344.
21. Grantham JJ, Nair V, Winklhofer F. 1998. Cystic diseases of the kidney. Pages 1699-1730 in Brenner BM, ed. Brenner and Rector's The Kidney, vol. 2. Saunders.
22. Hildebrandt F, Zhou W. 2007. Nephronophthisis-associated ciliopathies. Journal of the American Society for Nephrology 18: 1855-1871.
23. Huangfu D, Anderson K V. 2005. Cilia and Hedgehog responsiveness in the mouse. Proceedings of the National Academy of Sciences 102: 11325-11330.
24. Huber C, Cormier-Daire V. 2012. Ciliary disorder of the skeleton. American Journal of Medical Genetics 160C: 165-174.
25. Ibanez-Tallon I, Pagenstecher A, Fliegauf M, Olbrich H, Kispert A, Ketelsen UP, North A, Heintz N, Omran H. 2004. Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Human Molecular Genetics 13: 2133-2141.
26. Jenkins PM, McEwen D P, Martens JR. 2009. Olfactory cilia: Linking sensory cilia function and human disease. Chemical Senses 34: 451-464.
27. Kartagener M. 1933. Zur Pathogenese der Bronchiektasien bei Situs visce-rum inversus. Beitr Klin Tuberk 83: 13.
28. Keller LC, Romijn E P, Zamora I, Yates JR, 3rd, Marshall WF. 2005. Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes. Current Biology 15: 1090-1098.
29. Kessel RG, Kardon RH. 1979. Tissues and Organs: A Text-Atlas of Scanning Electron Microscopy. Freeman.
30. Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. 2013. Primary ciliary dyskinesia: Recent advances in diagnostics, genetics, and characterization of clinical disease. American Journal of Respiratory and Critical Care Medicine 188: 913-922.
31. Kozminski KG, Johnson KA, Forscher P, Rosenbaum JL. 1993. A motility in the eukaryotic flagellum unrelated to flagellar beating. Proceedings of the National Academy of Sciences 90: 5519-5523.
32. Lancaster MA, Schroth J, Gleeson JG. 2011. Subcellular spatial regulation of canonical Wnt signalling at the primary cilium. Nature Cell Biology 13: 700-707.
33. Lechtreck KF, Johnson EC, Sakai T, Cochran D, Ballif BA, Rush J, Pazour GJ, Ikebe M, Witman GB. 2009. The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella. Journal of Cell Biology 187: 1117-1132.
34. Lewin RA. 1952. Ultraviolet induced mutations in Chlamydomonas moewu-sii Gerloff. Journal of General Microbiology 6: 233-248.
35. Maguire AM, et al. 2008. Safety and efficacy of gene transfer for Leber's congenital amaurosis. New England Journal of Medicine 358: 2240-2248.
36. Manton I, Clarke, B. 1952. An electron microscope study of the spermato-zoid of sphagnum. Journal of Experimental Botany 3: 265-275.
37. Marszalek JR, Liu X, Roberts EA, Chui D, Marth JD, Williams DS, Goldstein LS. 2000. Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors. Cell 102: 175-187.
38. Nachury M V, et al. 2007. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129: 1201-1213.
39. Nicastro D, McIntosh JR, Baumeister W. 2005. 3D structure of eukaryotic flagella in a quiescent state revealed by cryo-electron tomography. Proceedings of the National Academy of Sciences 102: 15889-15894.
40. Nonaka S, Tanaka Y, Okada Y, Takeda S, Harada A, Kanai Y, Kido M, Hirokawa N. 1998. Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 95: 829-837.
41. Norris DP, Grimes DT. 2012. Mouse models of ciliopathies: The state of the art. Disease Models and Mechanisms 5: 299-312.
42. O'Callaghan C, Sikand K, Rutman A. 1999. Respiratory and brain ependy-mal ciliary function. Pediatric Research 46: 704-707.
43. Ostrowski LE, Blackburn K, Radde KM, Moyer MB, Schlatzer DM, Moseley A, Boucher RC. 2002. A proteomic analysis of human cilia: identification of novel components. Molecular and Cellular Proteomics 1: 451-465.
44. Pazour GJ, Witman GB. 2003. The vertebrate primary cilium is a sensory organelle. Current Opinion in Cell Biology 15: 105-110.
45. Pazour GJ, Dickert BL, Vucica Y, Seeley ES, Rosenbaum JL, Witman GB, Cole DG. 2000. Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella. Journal of Cell Biology 151: 709-718.
46. Pazour GJ, San Agustin JT, Follit JA, Rosenbaum JL, Witman GB. 2002a. Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease. Current Biology 12: R378-R380.
47. Pazour GJ, Baker SA, Deane JA, Cole DG, Dickert BL, Rosenbaum JL, Witman GB, Besharse JC. 2002b. The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance. Journal of Cell Biology 157: 103-113.
48. Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clement A, Goossens M, Amselem S, Duriez B. 1999. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. American Journal of Human Genetics 65: 1508-1519.
49. Perrault I, et al. 2012. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. American Journal of Human Genetics 90: 864-870.
50. Pigino G, Geimer S, Lanzavecchia S, Paccagnini E, Cantele F, Diener DR, Rosenbaum JL, Lupetti P. 2009. Electron-tomographic analysis of intraflagellar transport particle trains in situ. Journal of Cell Biology 187: 135-148.
51. Piperno G, Huang B, Luck DJ. 1977. Two-dimensional analysis of flagellar proteins from wild-type and paralyzed mutants of Chlamydomonas reinhardtii. Proceedings of the National Academy of Sciences 74: 1600-1604.
52. Romani M, Micalizzi A, Valente EM. 2013. Joubert syndrome: Congenital cerebellar ataxia with the molar tooth. Lancet Neurology 12: 894-905.
53. Rompolas P, Patel-King RS, King SM. 2009. Schmidtea mediterranea: A model system for analysis of motile cilia. Methods in Cell Biology 93: 81-98.
54. Rosenbaum JL, Witman GB. 2002. Intraflagellar transport. Nature Reviews Molecular Cell Biology 3: 813-825.
55. Salonen R, Paavola P. 1998. Meckel syndrome. Journal of Medical Genetics 35: 497-501.
56. Satir P. 1965. Studies on cilia: II. Examination of the distal region of the ciliary shaft and the role of the filaments in motility. Journal of Cell Biology 26: 805-834.
57. Satir P, Heuser T, Sale WS. 2014. A structural basis for how motile cilia beat. BioScience 64: XXX-XXX.
58. Taschner M, Bhogaraju S, Lorentzen E. 2012. Architecture and function of IFT complex proteins in ciliogenesis. Differentiation 83: S12-S22.
59. Van Leeuwenhoek A. 1677. Concerning little animals observed in rain-, well-, sea-and snow-water; as also in water wherein pepper had lain infused. Philosophical Transactions of the Royal Society 12: 821-831.
60. Vincensini L, Blisnick T, Bastin P. 2011. 1001 model organisms to study cilia and flagella. Biology of the Cell 103: 109-130.
61. Wheway G, Parry DA, Johnson CA. 2013. The role of primary cilia in the development and disease of the retina. Organogenesis 10: 69-85.
62. Willaredt MA, Gorgas K, Gardner HA, Tucker KL. 2012. Multiple essential roles for primary cilia in heart development. Cilia 1: 23.
63. Williams CL, Masyukova S V, Yoder BK. 2010. Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. Journal of American Society of Nephrology 21: 782-793.
64. Williams CL, et al. 2011. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. Journal of Cell Biology 192: 1023-1041.
65. Witman GB, Carlson K, Berliner J, Rosenbaum JL. 1972. Chlamydomonas flagella. I. Isolation and electrophoretic analysis of microtubules, matrix, membranes, and mastigonemes. Journal of Cell Biology 54: 507-539.
66. Yoshiba S, et al. 2012. Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2. Science 338: 226-231.