RPGR mutations might cause reduced orientation of respiratory cilia

Pediatric Pulmonology

Volumn 48, Issue 4, 2013, Pages 352-363

  Bukowy Bieryłło, Zuzanna ^a,b,c   Ziȩtkiewicz, Ewa ^a   Loges, Niki Tomas ^c   Wittmer, Mariana ^d   Geremek, MacIej ^a,e,f   Olbrich, Heike ^c   Fliegauf, Manfred ^c,g   Voelkel, Katarzyna ^a   Rutkiewicz, Ewa ^a   Rutland, Jonathan ^h   Morgan, Lucy ^h   Pogorzelski, Andrzej ⁱ   Martin, James ^j,k   Haan, Eric ^j,k   Berger, Wolfgang ^d,l   Omran, Heymut ^c   Witt, Michał ^a,b  

^a INSTITUTE OF HUMAN GENETICS   (Poland)

^b INTERNATIONAL INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Poland)

^c UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g UNIVERSITY OF FREIBURG   (Germany)

^h Department of Microbiology and Infectious Diseases   (Australia)

ⁱ INSTITUTE OF TUBERCULOSIS AND LUNG DISEASES   (Poland)

^j WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^k UNIVERSITY OF ADELAIDE   (Australia)

^l ETH ZURICH   (Switzerland)

more..

Author keywords

in vitro ciliogenesis; mucociliary clearance; primary ciliary dyskinesia; retinitis pigmentosa guanosine triphosphatase regulator

Indexed keywords

PROTEIN; RETINITIS PIGMENTOSA GTPASE REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUSTRALIA; CASE REPORT; CILIARY DYSKINESIA; CILIARY MOTILITY; DNA SEQUENCE; EUKARYOTIC FLAGELLUM; EXON; HUMAN; IMMUNOFLUORESCENCE; IN VITRO STUDY; MALE; PHOTOMETRY; POLAND; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; TRANSMISSION ELECTRON MICROSCOPY; VIDEO MICROSCOPY;

ADOLESCENT; CILIA; EYE PROTEINS; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC MARKERS; GENOTYPING TECHNIQUES; HUMANS; KARTAGENER SYNDROME; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MICROSCOPY, VIDEO; NASAL MUCOSA; POINT MUTATION; RETINITIS PIGMENTOSA;

EID: 84884211488     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.22632     Document Type: Article

References (50)

1. Afzelius BA, Mossberg B,. Immotile cilia. Thorax 1980; 35: 401-404.
2. Geremek M, Witt M,. Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions. J Appl Genet 2004; 45: 347-361. (Pubitemid 39273130)
3. Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, Bartoloni L, Eber E, Escribano A, Haarman E, et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 2009; 34: 1264-1276.
4. Ziȩtkiewicz E, Nitka B, Voelkel K, Skrzypczak U, Bukowy Z, Rutkiewicz E, Humińska K, Przystałowska H, Pogorzelski A, Witt M,. Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). Resp Res 2010; 11: 174.
5. Merveille A-C, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 2011; 43: 72-78.
6. Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, et al. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet 2011; 43: 79-84.
7. Ziȩtkiewicz E, Bukowy-Bieryłło Z, Voelkel K, Klimek B, Dmeńska H, Pogorzelski A, Sulikowska-Rowińska A, Rutkiewicz E, Witt M,. Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. PloS One 2012; 7: e33667.
8. Narayan D, Krishnan SN, Upender M, Ravikumar TS, Mahoney MJ, Dolan TF, Teebi AS, Haddad GG,. Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). J Med Genet 1994; 31: 493-496. (Pubitemid 24182946)
9. van Dorp DB, Wright AF, Carothers AD, Bleeker-Wagemakers EM,. A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities. Hum Genet 1992; 88: 331-334.
10. Iannaccone A, Breuer DK, Wang XF, Kuo SF, Normando EM, Filippova E, Baldi A, Hiriyanna S, MacDonald CB, Baldi F, et al. Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J Med Genet 2003; 40: e118.
11. Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clément A, Geremek M, Delaisi B, Bridoux A-M, et al. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet 2006; 43: 326-333.
12. Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, et al. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 2006; 120: 171-178. (Pubitemid 44204005)
13. Krawczyński MR, Witt M,. PCD and RP: X-linked inheritance of both disorders ? Pediatr Pulmonol 2004; 38: 88-89. (Pubitemid 38823763)
14. Zito I, Downes SM, Patel RJ, Cheetham ME, Ebenezer ND, Jenkins SA, Bhattacharya SS, Webster AR, Holder GE, Bird AC, et al. RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet 2003; 40: 609-615. (Pubitemid 37046916)
15. Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, et al. Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis 2008; 14: 1081-1093.
16. Hong D-H, Pawlyk B, Sokolov M, Strissel KJ, Yang J, Tulloch B, Wright AF, Arshavsky VY, Li T,. RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. Invest Ophthalmol Vis Sci 2003; 44: 2413-2421. (Pubitemid 36618396)
17. Schermer B, Höpker K, Omran H, Ghenoiu C, Fliegauf M, Fekete A, Horvath J, Köttgen M, Hackl M, Zschiedrich S, et al. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. EMBO J 2005; 24: 4415-4424. (Pubitemid 41828915)
18. Kharitonov S, Alving K, Barnes PJ,. Exhaled and nasal nitric oxide measurements: recommendations. The European Respiratory Society Task Force. Eur Resp J 1997; 10: 1683-1693. (Pubitemid 27311092)
19. Bourgeois S, Labuda D,. Dynamic allele-specific oligonucleotide hybridization on solid support. Anal Biochem 2004; 324: 309-311. (Pubitemid 38019025)
20. Olbrich H, Häffner K, Kispert A, Völkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 2002; 30: 143-144.
21. Sisson JH, Stoner JA, Ammons BA, Wyatt TA,. All-digital image capture and whole-field analysis of ciliary beat frequency. J Microsc 2003; 211: 103-111. (Pubitemid 36960544)
22. Rutland J, Cole PJ,. Non-invasive sampling of nasal cilia for measurement of beat frequency and study of ultrastructure. Lancet 1980; 2: 564-565. (Pubitemid 10056609)
23. Demirci FYK, Radak AL, Rigatti BW, Mah TS, Gorin MB,. A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping. Am J Ophthalmol 2004; 138: 504-505. (Pubitemid 39208594)
24. Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 1996; 5: 1035-1041. (Pubitemid 26232288)
25. Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, et al. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 1996; 13: 35-42. (Pubitemid 26139291)
26. Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 2002; 70: 1545-1554. (Pubitemid 34533901)
27. Renault L, Nassar N, Vetter I, Becker J, Klebe C, Roth M, Wittinghofer A,. The 1.7 A crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller. Nature 1998; 392: 97-101. (Pubitemid 28150597)
28. Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J,. The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc Nat Acad Sci USA 1999; 96: 1315-1320. (Pubitemid 29098448)
29. Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA,. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet 2000; 9: 2095-2105.
30. Murga-Zamalloa CA, Swaroop A, Khanna H,. RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. J Genet 2009; 88: 399-407.
31. Demirci FYK, Rigatti BW, Wen G, Radak AL, Mah TS, Baic CL, Traboulsi EI, Alitalo T, Ramser J, Gorin MB,. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet 2002; 70: 1049-1053. (Pubitemid 34259324)
32. Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier J-L, et al. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat 2007; 28: 81-91. (Pubitemid 46036216)
33. Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright AF,. RPGR mutation analysis and disease: an update. Hum Mutat 2007; 28: 322-328. (Pubitemid 46542918)
34. Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D,. A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. Am J Med Genet 2007; 143A: 1150-1158. (Pubitemid 46870069)
35. Yue P, Melamud E, Moult J,. SNPs3D: candidate gene and SNP selection for association studies. BMC Bioinformatics 2006; 7: 166.
36. Retina International's Scientific Newsletter-RPGR Mutations. Available from: http://www.retina-international.org/sci-news/rpgrmut.htm
37. Bukowy Z, Ziȩtkiewicz E, Witt M,. In vitro culturing of ciliary respiratory cells-a model for studies of genetic diseases. J Appl Genet 2011; 52: 39-51.
38. Bartoloni L, Blouin J, Sainsbury AJ, Gos A, Morris MA, Affara NA, DeLozier-Blanchet CD, Antonarakis SE,. Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping. Cytogenet Cell Genet 1999; 84: 188-189. (Pubitemid 29294961)
39. Pifferi M, Michelucci A, Conidi ME, Cangiotti AM, Simi P, Macchia P, Boner AL,. New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. Eur Respir J 2010; 35: 1413-1416.
40. Olbrich H, Horváth J, Fekete A, Loges NT, Storm van's, Gravesande K, Blum A, Hörmann K, Omran H,. Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia. Pediatr Res 2006; 59: 418-422. (Pubitemid 43740081)
41. Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA,. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol 2003; 136: 678-687. (Pubitemid 37153183)
42. Chin GY, Karas DE, Kashgarian M,. Correlation of presentation and pathologic condition in primary ciliary dyskinesia. Arch Otolaryngol Head Neck Surg 2002; 128: 1292-1294. (Pubitemid 35403309)
43. De Iongh R, Rutland J,. Orientation of respiratory tract cilia in patients with primary ciliary dyskinesia, bronchiectasis, and in normal subjects. J Clin Pathol 1989; 42: 613-619. (Pubitemid 19156431)
44. Rayner CF, Rutman A, Dewar A, Cole PJ, Wilson R,. Ciliary disorientation in patients with chronic upper respiratory tract inflammation. Am J Respir Crit Care Med 1995; 151: 800-804.
45. Rautiainen M, Collan Y, Nuutinen J, Afzelius BA,. Ciliary orientation in the "immotile cilia" syndrome. Eur Arch Otorhinolaryngol 1990; 247: 100-103. (Pubitemid 20102938)
46. Marshall WF,. Basal bodies platforms for building cilia. Curr Top Dev Biol 2008; 85: 1-22.
47. Simons M, Mlodzik M,. Planar cell polarity signaling: from fly development to human disease. Ann Rev Gene 2008; 42: 517-540.
48. Murga-Zamalloa CA, Desai NJ, Hildebrandt F, Khanna H,. Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis 2010; 16: 1373-1381.
49. Gakovic M, Shu X, Kasioulis I, Carpanini S, Moraga I, Wright AF,. The role of RPGR in cilia formation and actin stability. Hum Mol Genet 2011; 20: 4840-4850.
50. Werner ME, Hwang P, Huisman F, Taborek P, Yu CC, Mitchell BJ,. Actin and microtubules drive differential aspects of planar cell polarity in multiciliated cells. J Cell Biol 2011; 195: 19-26.