Multiprotein complexes of retinitis pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked retinitis pigmentosa (XLRP)

Advances in Experimental Medicine and Biology

Volumn 664, Issue , 2010, Pages 105-114

  Murga Zamalloa, Carlos ^b   Swaroop, Anand ^b   Khanna, Hemant ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ISOPROTEIN; REGULATOR PROTEIN; RETINITIS PIGMENTOSA GUANOSINE TRIPHOSPHATASE REGULATOR; UNCLASSIFIED DRUG;

CILIATED EPITHELIUM; CONFERENCE PAPER; DNA SPLICING; GENE FUNCTION; GENE MUTATION; GENETIC CODE; HUMAN; MICROTUBULE; MOUSE; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN BINDING; PROTEIN TRANSPORT; RETINITIS PIGMENTOSA; RPGR GENE;

ANIMALS; CILIA; EYE PROTEINS; GENES, X-LINKED; HUMANS; MULTIPROTEIN COMPLEXES; MUTATION; RETINITIS PIGMENTOSA;

EID: 79959600015     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-1399-9_13     Document Type: Conference Paper

References (80)

1. Ayyagari R, Demirci FY, Liu J et al (2002) X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics 80(2):166-171 (Pubitemid 36197959)
2. Badano JL, Mitsuma N, Beales PL et al (2006) The ciliopathies: An emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 7:125-148 (Pubitemid 44627925)
3. Bartolini F, Bhamidipati A, Thomas S et al (2002) Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. J Biol Chem 277(17):14629-14634 (Pubitemid 34952530)
4. Beltran WA, Hammond P, Acland GM et al (2006) A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa. Invest Ophthalmol Vis Sci 47(4):1669-1681 (Pubitemid 46780781)
5. Besharse JC (1986) The Retina: A model for cell biological studies Part I. Academic, New York, pp 297-352
6. Besharse JC, Baker SA, Luby-Phelps K et al (2003) Photoreceptor intersegmental transport and retinal degeneration: A conserved pathway common to motile and sensory cilia. Adv Exp Med Biol 533:157-164 (Pubitemid 38005275)
7. Bird AC (1975) X-linked retinitis pigmentosa. Br J Ophthalmol 59(4):177-199
8. Bird AC (1987) Clinical investigation of retinitis pigmentosa. Prog Clin Biol Res 247:3-20
9. Bok D, Young RW (1972) The renewal of diffusely distributed protein in the outer segments of rods and cones. Vision Res 12(2):161-168
10. Boylan JP, Wright AF (2000) Identification of a novel protein interacting with RPGR. Hum Mol Genet 9(14):2085-2093
11. Breuer DK, Yashar BM, Filippova E et al (2002) A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 70(6):1545-1554 (Pubitemid 34533901)
12. Buraczynska M, Wu W, Fujita R et al (1997) Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am J Hum Genet 61(6): 1287-1292 (Pubitemid 28046904)
13. Chang B, Khanna H, Hawes N et al (2006) In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 15(11):1847-1857 (Pubitemid 43821775)
14. Chapple JP, Hardcastle AJ, Grayson C et al (2000) Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. Hum Mol Genet 9(13):1919-1926 (Pubitemid 30642655)
15. Davenport JR, Yoder BK (2005) An incredible decade for the primary cilium: A look at a onceforgotten organelle. Am J Physiol Renal Physiol 289(6):F1159-F1169 (Pubitemid 41681349)
16. Demirci FY, Rigatti BW, Mah TS et al (2006) A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. Am J Ophthalmol 141(1):208-210 (Pubitemid 43016203)
17. Demirci FY, Rigatti BW, Wen G et al (2002) X-linked cone-rod dystrophy (locus COD1): Identification of mutations in RPGR exon ORF15. Am J Hum Genet 70(4): 1049-1053 (Pubitemid 34259324)
18. Deretic D, Williams AH, Ransom N et al (2005) Rhodopsin C terminus, the site of mutations causing retinal disease, regulates trafficking by binding to ADP-ribosylation factor 4 (ARF4). Proc Natl Acad Sci USA 102(9):3301-3306 (Pubitemid 40328040)
19. Dryja TP, Adams SM, Grimsby JL et al (2001) Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 68(5):1295-1298 (Pubitemid 32424429)
20. Fishman GA (1978) Retinitis pigmentosa. Genetic percentages. Arch Ophthalmol 96(5): 822-826 (Pubitemid 8314554)
21. Fishman GA, Farber MD, Derlacki DJ (1988) X-linked retinitis pigmentosa. Profile of clinical findings. Arch Ophthalmol 106(3):369-375 (Pubitemid 18081720)
22. Fishman GA,Weinberg AB,McMahon TT (1986) X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers. Arch Ophthalmol 104(9):1329-1335 (Pubitemid 16054962)
23. Fujita R, Bingham E, Forsythe P et al (1996) A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. Am J Hum Genet 59(1):152-158 (Pubitemid 26189741)
24. Fujita R, Buraczynska M, Gieser L et al (1997) Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region but splice defects in two families. Am J Hum Genet 61(3):571-580 (Pubitemid 27418398)
25. Gieser L, Fujita R, Goring HH et al (1998) A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Am J Hum Genet 63(5):1439-1447 (Pubitemid 30418542)
26. Grayson C, Bartolini F, Chapple JP (2002) Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. Hum Mol Genet 11(24):3065-3074 (Pubitemid 35414820)
27. Hardcastle AJ, Thiselton DL, Van Maldergem L et al (1999) Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am J Hum Genet 64(4):1210-1215 (Pubitemid 30463053)
28. Hardcastle AJ, Thiselton DL, Zito I et al (2000) Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Invest Ophthalmol Vis Sci 41(8):2080-2086 (Pubitemid 30450977)
29. Hartong DT, Berson EL, Dryja TP (2006) Retinitis pigmentosa. Lancet 368(9549):1795-1809 (Pubitemid 44739028)
30. He S, Parapuram SK, Hurd TW et al (2008) Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: Insights into X-linked Retinitis Pigmentosa and associated ciliopathies. Vision Res 48(3):366-376 (Pubitemid 351179515)
31. Heckenlively JR, Yoser SL, Friedman LH et al (1988) Clinical findings and common symptoms in retinitis pigmentosa. Am J Ophthalmol 105(5):504-511
32. Hirano T (2006) At the heart of the chromosome: SMC proteins in action. Nat Rev Mol Cell Biol 7(5):311-322
33. Hong DH, Li T (2002) Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers. Invest Ophthalmol Vis Sci 43(11):3373-3382 (Pubitemid 35334343)
34. Hong DH, Pawlyk BS, Adamian M et al (2004) Dominant, gain-of-function mutant produced by truncation of RPGR. Invest Ophthalmol Vis Sci 45(1):36-41 (Pubitemid 38055665)
35. Hong DH, Pawlyk BS, Adamian M et al (2005) A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo. Invest Ophthalmol Vis Sci 46(2):435-441 (Pubitemid 40270319)
36. Hong DH, Pawlyk BS, Shang J (2000) A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci USA 97(7): 3649-3654 (Pubitemid 30183357)
37. Hong DH, Pawlyk B, Sokolov M et al (2003) RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia. Invest Ophthalmol Vis Sci 44(6):2413-2421 (Pubitemid 36618396)
38. Hong DH, Yue G, Adamian M et al (2001) Retinitis pigmentosa GTPase regulator (RPGRr)- interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem 276(15):12091-12099
39. Hunter DG, Fishman GA, Kretzer FL (1988) Abnormal axonemes in X-linked retinitis pigmentosa. Arch Ophthalmol 106(3):362-368 (Pubitemid 18081719)
40. Iannaccone A,Wang X, Jablonski MM et al (2004) Increasing evidence for syndromic phenotypes associated with RPGR mutations. Am J Ophthalmol 137(4):785-786 author reply 786 (Pubitemid 38446713)
41. Insinna C, Besharse JC (2008) Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors. Dev Dyn 237(8):1982-1992
42. Kahn RA, Volpicelli-Daley L, Bowzard B et al (2005) Arf family GTPases: Roles in membrane traffic and microtubule dynamics. Biochem Soc Trans 33(Pt 6):1269-1272 (Pubitemid 41779664)
43. Khanna H, Hurd TW, Lillo C et al (2005) RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem 280(39):33580-33587 (Pubitemid 41397159)
44. Kirschner R, Rosenberg T, Schultz-Heienbrok R et al (1999) RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet 8(8):1571-1578 (Pubitemid 29374093)
45. Koenekoop RK, Loyer M, Hand CK et al (2003) Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol 136(4):678-687 (Pubitemid 37153183)
46. Kuhnel K, Veltel S, Schlichting I et al (2006) Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. Structure 14(2):367-378 (Pubitemid 43202025)
47. Linari M, Ueffing M, Manson F et al (1999) The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc Natl Acad Sci USA 96(4):1315-1320 (Pubitemid 29098448)
48. Liu Q, Tan G, Levenkova N et al (2007) The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics 6(8):1299-1317 (Pubitemid 47365430)
49. Liu Q, Zuo J, Pierce EA (2004) The retinitis pigmentosa 1 protein is a photoreceptor microtubuleassociated protein. J Neurosci 24(29):6427-6436 (Pubitemid 38971689)
50. Marszalek JR, Liu X, Roberts EA et al (2000) Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors. Cell 102(2):175-187
51. Mavlyutov TA, Zhao H, Ferreira PA (2002) Species-specific subcellular localization of RPGR and RPGRIP isoforms: Implications for the phenotypic variability of congenital retinopathies among species. Hum Mol Genet 11(16):1899-1907
52. McGuire RE, Sullivan LS, Blanton SH et al (1995) X-linked dominant cone-rod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11. Am J Hum Genet 57(1):87-94
53. Mears AJ, Gieser L, Yan D et al (1999) Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 64(3): 897-900 (Pubitemid 30460433)
54. Meindl A, Dry K, Herrmann K et al (1996) A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet 13(1):35-42 (Pubitemid 26139291)
55. Melamud A, Shen GQ, Chung D et al (2006) Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. J Med Genet 43(6):e27
56. Moore A, Escudier E, Roger G et al (2006) RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet 43(4):326-333
57. Otto EA, Loeys B, Khanna H et al (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 37(3):282-288 (Pubitemid 41716255)
58. Pazour GJ, Baker SA, Deane JA et al (2002) The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance. J Cell Biol 157(1):103-113 (Pubitemid 34847833)
59. Pedersen LB, Veland IR, Schroder JM et al (2008) Assembly of primary cilia. Dev Dyn 237(8):1993-2006
60. Renault L, Kuhlmann J, Henkel A et al (2001) Structural basis for guanine nucleotide exchange on Ran by the regulator of chromosome condensation (RCC1). Cell 105(2):245-255 (Pubitemid 32429514)
61. Roepman R, van Duijnhoven G, Rosenberg T et al (1996) Positional cloning of the gene for Xlinked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 5(7):1035-1041 (Pubitemid 26232288)
62. Rosenbaum JL, Cole DG, Diener DR (1999) Intraflagellar transport: The eyes have it. J Cell Biol 144(3):385-388 (Pubitemid 29234519)
63. Sayer JA, Otto EA, O'Toole J et al (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 38(6):674-681 (Pubitemid 43927310)
64. Schwahn U, Lenzner S, Dong J (1998) Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet 19(4):327-332 (Pubitemid 28357903)
65. Sharon D, Bruns GA, McGee TL et al (2000) X-linked retinitis pigmentosa: Mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci 41(9):2712-2721 (Pubitemid 30624404)
66. Sharon D, Sandberg MA, Rabe VWet al (2003) RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet 73(5):1131-1146 (Pubitemid 37414225)
67. Shu X, Black GC, Rice JM et al (2007) RPGR mutation analysis and disease: An update. Hum Mutat 28(4):322-328 (Pubitemid 46542918)
68. Shu X, Fry AM, Tulloch B et al (2005) RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Hum Mol Genet 14(9): 1183-1197 (Pubitemid 40613907)
69. Sullivan LS, Daiger SP (1996) Inherited retinal degeneration: Exceptional genetic and clinical heterogeneity. Mol Med Today 2(9):380-386 (Pubitemid 126406158)
70. van Dorp DB, Wright AF, Carothers AD et al (1992) A family with RP3 type of X-linked retinitis pigmentosa: An association with ciliary abnormalities. Hum Genet 88(3):331-334
71. Vervoort R, Lennon A, Bird AC et al (2000) Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet 25(4):462-466 (Pubitemid 32983444)
72. Williams DS (2002) Transport to the photoreceptor outer segment by myosin VIIa and kinesin II. Vision Res 42(4):455-462 (Pubitemid 34169702)
73. Wright AF, Bhattacharya SS, Aldred MA et al (1991) Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. J Med Genet 28(7):453-457 (Pubitemid 21922638)
74. Yan D, Swain PK, Breuer D et al (1998) Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J Biol Chem 273(31): 19656-19663 (Pubitemid 28367022)
75. Yang Z, Peachey NS, Moshfeghi DM et al (2002) Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet 11(5):605-611 (Pubitemid 34257497)
76. Young RW (1968) Passage of newly formed protein through the connecting cilium of retina rods in the frog. J Ultrastruct Res 23(5):462-473
77. Zhang Q, Acland GM, Wu WX et al (2002) Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet 11(9):993-1003 (Pubitemid 34521081)
78. Zhang H, Liu XH, Zhang K et al (2004) Photoreceptor cGMP phosphodiesterase delta subunit (PDEdelta) functions as a prenyl-binding protein. J Biol Chem 279(1):407-413 (Pubitemid 38044840)
79. Zhao Y, Hong DH, Pawlyk B et al (2003) The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: Subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci USA 100(7):3965-3970 (Pubitemid 36418140)
80. Zito I, Downes SM, Patel RJ et al (2003) RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. J Med Genet 40(8):609-615 (Pubitemid 37046916)