Cilia and models for studying structure and function

Proceedings of the American Thoracic Society

Volumn 8, Issue 5, 2011, Pages 423-429

  Ostrowski, Lawrence E ^a   Dutcher, Susan K ^b   Lo, Cecilia W ^c  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital heart disease; Heterotaxy; Proteomics; Suppressor screens

Indexed keywords

AXONEMAL DYNEIN; SHORT HAIRPIN RNA; SMALL INTERFERING RNA;

AXONEME; CELL CULTURE; CHLAMYDOMONAS; CHROMOSOME 16; CILIARY DYSKINESIA; CILIATED EPITHELIUM; COMPARATIVE GENOMIC HYBRIDIZATION; CONFERENCE PAPER; CONGENITAL HEART DISEASE; EXON; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENOMICS; HETEROTAXY SYNDROME; HUMAN; LUNG ALVEOLUS EPITHELIUM; MASS SPECTROMETRY; NONHUMAN; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEOMICS; SACCHAROMYCES; TRANSMISSION ELECTRON MICROSCOPY; ZEBRA FISH;

ANIMALS; AXONEME; CHLAMYDOMONAS; CILIA; DISEASE MODELS, ANIMAL; FLAGELLA; HEART DEFECTS, CONGENITAL; HETEROTAXY SYNDROME; HUMANS; KARTAGENER SYNDROME; MICE; MODELS, BIOLOGICAL; MUTATION; PROTEOME;

EID: 80053034121     PISSN: 15463222     EISSN: 19435665     Source Type: Journal    
DOI: 10.1513/pats.201103-027SD     Document Type: Conference Paper

References (39)

1. Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med 2009;11:473-487.
2. Driscoll JA, Bhalla S, Liapis H, Ibricevic A, Brody SL. Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis. Chest 2008;133:1181-1188. (Pubitemid 351685524)
3. Ostrowski LE, Blackburn K, Radde KM, Moyer MB, Schlatzer DM, Moseley A, Boucher RC. A proteomic analysis of human cilia: identification of novel components. Mol Cell Proteomics 2002;1:451-465.
4. Silva JC, Gorenstein MV, Li GZ, Vissers JP, Geromanos SJ. Absolute quantification of proteins by LCMSE: a virtue of parallel MS acquisition. Mol Cell Proteomics 2006;5:144-156. (Pubitemid 43169347)
5. Cheng FY, Blackburn K, Lin YM, Goshe MB, Williamson JD. Absolute protein quantification by LC/MS(E) for global analysis of salicylic acid-induced plant protein secretion responses. J Proteome Res 2009;8:82-93.
6. Blackburn K, Thompson K, Goshe MB, Ostrowski L. Characterizing human respiratory cilia using data-independent LC/MSE provides component level protein stoichiometry measurements. The 58th American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics; Salt Lake City, UT: 2010.
7. Zhang YJ, O'Neal WK, Randell SH, Blackburn K, Moyer MB, Boucher RC, Ostrowski LE. Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia. J Biol Chem2002;277:17906-17915.
8. Lechtreck KF, Witman GB. Chlamydomonas reinhardtii hydin is a central pair protein required for flagellar motility. J Cell Biol 2007;176:473-482.
9. Davy BE, Robinson ML. Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. Hum Mol Genet 2003;12:1163-1170. (Pubitemid 36622148)
10. Doggett NA, Xie G, Meincke LJ, Sutherland RD, Mundt MO, Berbari NS, Davy BE, Robinson ML, Rudd MK, Weber JL, et al. A 360-kb interchromosomal duplication of the human HYDIN locus. Genomics 2006;88:762-771. (Pubitemid 44739204)
11. Yan H, Papadopoulos N, Marra G, Perrera C, Jiricny J, Boland CR, Lynch HT, Chadwick RB, de la Chapelle A, Berg K, et al: Conversion of diploidy to haploidy. Nature 2000;403:723-724.
12. Pazour GJ, Agrin N, Leszyk J, Witman GB. Proteomic analysis of a eukaryotic cilium. J Cell Biol 2005;170:103-113. (Pubitemid 40994100)
13. Kwan AL, Dutcher SK, Stormo GD. Detecting coevolution of functionally related proteins for automated protein annotation. IEEE Proceedings. 2010;11:99-105.
14. Huang B, Ramanis Z, Luck DJ. Suppressor mutations in Chlamydomonas reveal a regulatory mechanism for Flagellar function. Cell 1982;28:115-124. (Pubitemid 12223314)
15. Porter ME, Knott JA, Gardner LC, Mitchell DR, Dutcher SK. Mutations in the SUP-PF-1 locus of Chlamydomonas reinhardtii identify a regulatory domain in the beta-dynein heavy chain. J Cell Biol 1994;126:1495-1507. (Pubitemid 24284613)
16. Porter ME, Power J, Dutcher SK. Extragenic suppressors of paralyzed flagellar mutations in Chlamydomonas reinhardtii identify loci that alter the inner dynein arms. J Cell Biol 1992;118:1163-1176.
17. Heuser T, Raytchev M, Krell J, Porter ME, Nicastro D. The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella. J Cell Biol 2009;187:921-933.
18. Elam CA, Wirschell M, Yamamoto R, Fox LA, York K, Kamiya R, Dutcher SK, Sale WS. An axonemal PP2A B-subunit is required for PP2A localization and flagellar motility. Cytoskeleton (Hoboken) 2011;68:363-372.
19. Porter ME, Sale WS. The 9 1 2 axoneme anchors multiple inner arm dyneins and a network of kinases and phosphatases that control motility. J Cell Biol 2000;151:F37-F42.
20. King SJ, Dutcher SK. Phosphoregulation of an inner dynein arm complex in Chlamydomonas reinhardtii is altered in phototactic mutant strains. J Cell Biol 1997;136:177-191. (Pubitemid 27044813)
21. Bayly PV, Lewis BL, Kemp PS, Pless RB, Dutcher SK. Efficient spatiotemporal analysis of the flagellar waveform of Chlamydomonas reinhardtii. Cytoskeleton (Hoboken) 2010;67:56-69.
22. Satir P, Pedersen LB, Christensen ST. The primary cilium at a glance. J Cell Sci 2010;123:499-503.
23. Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 2007;8:880-893. (Pubitemid 47622564)
24. Yu Q, Shen Y, Chatterjee B, Siegfried BH, Leatherbury L, Rosenthal J, Lucas JF, Wessels A, Spurney CF, Wu YJ, et al. ENU induced mutations causing congenital cardiovascular anomalies. Development 2004;131:6211-6223. (Pubitemid 40123933)
25. Shen Y, Leatherbury L, Rosenthal J, Yu Q, Pappas MA, Wessels A, Lucas J, Siegfried B, Chatterjee B, Svenson K, et al. Cardiovascular phenotyping of fetal mice by noninvasive high-frequency ultrasound facilitates recovery of ENU-induced mutations causing congenital cardiac and extracardiac defects. Physiol Genomics 2005;24:23-36.
26. Huangfu D, Anderson KV. Cilia and Hedgehog responsiveness in the mouse. Proc Natl Acad Sci USA 2005;102:11325-11330. (Pubitemid 41153819)
27. Anderson KV. Cilia and Hedgehog signaling in the mouse embryo. Harvey Lect 2006;102:103-115.
28. Schneider L, Clement CA, Teilmann SC, Pazour GJ, Hoffmann EK, Satir P, Christensen ST. PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts. Curr Biol 2005;15:1861-1866. (Pubitemid 41501522)
29. Hamada H, Meno C, Watanabe D, Saijoh Y. Establishment of vertebrate left-right asymmetry. Nat Rev Genet 2002;3:103-113. (Pubitemid 34506594)
30. Nonaka S, Shiratori H, Saijoh Y, Hamada H. Determination of left-right patterning of the mouse embryo by artificial nodal flow. Nature 2002;418:96-99. (Pubitemid 34742578)
31. Tan SY, Rosenthal J, Zhao XQ, Francis RJ, Chatterjee B, Sabol SL, Linask KL, Bracero L, Connelly PS, Daniels MP, et al. Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. J Clin Invest 2007;117:3742-3752. (Pubitemid 350224085)
32. Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 2006;174:120-126. (Pubitemid 44015384)
33. Ostrowski LE, Yin W, Rogers TD, Busalacchi KB, Chua M, O'Neal WK, Grubb BR. Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. Am J Respir Cell Mol Biol 2010;43:55-63.
34. Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007;115:2814-2821. (Pubitemid 46869667)
35. Swisher M, Jonas R, Tian X, Lee ES, Lo CW, Leatherbury L. Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy. J Thorac Cardiovasc Surg 2011;141:637-644, e3.
36. Leigh MW, Zariwala MA, Knowles MR. Primary ciliary dyskinesia: improving the diagnostic approach. Curr Opin Pediatr 2009;21:320-325.
37. Smith EF. Hydin seek: finding a function in ciliary motility. J Cell Biol 2007;176:403-404.
38. Ostrowski LE, Olsen JC. Restoration of ciliary activity to primary ciliary dyskinesia cells using an EIAV-based lentivirus vector. Mol Therapy 2009;17:S30.
39. Ostrowski LE, Yin W, Thompson KE, Patel M, Olsen J. Pilot studies of gene therapy for primary ciliary dyskinesia [abstract]. Am J Respir Crit Care Med 2010;181:A6604.