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Volumn 44, Issue 6, 2003, Pages 2413-2421

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

Author keywords

[No Author keywords available]

Indexed keywords

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

EID: 0038485864     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.02-1206     Document Type: Article
Times cited : (189)

References (34)
  • 1
    • 15844378213 scopus 로고    scopus 로고
    • A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
    • Meindl A, Dry K, Herrmann K, 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.
    • (1996) Nat Genet , vol.13 , pp. 35-42
    • Meindl, A.1    Dry, K.2    Herrmann, K.3
  • 2
    • 0034724168 scopus 로고    scopus 로고
    • A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
    • Hong DH, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Nat Acad Sci USA. 2000;97:3649-3654.
    • (2000) Proc Nat Acad Sci USA , vol.97 , pp. 3649-3654
    • Hong, D.H.1    Pawlyk, B.S.2    Shang, J.3    Sandberg, M.A.4    Berson, E.L.5    Li, T.6
  • 3
    • 0036565892 scopus 로고    scopus 로고
    • Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration
    • Zhang Q, Acland GM, Wu WX, et al. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet. 2002;11:993-1003.
    • (2002) Hum Mol Genet , vol.11 , pp. 993-1003
    • Zhang, Q.1    Acland, G.M.2    Wu, W.X.3
  • 4
    • 0036032865 scopus 로고    scopus 로고
    • Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15
    • Aguirre GD, Yashar BM, John SK, et al. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15. Exp Eye Res. 2002;75:431-443.
    • (2002) Exp Eye Res , vol.75 , pp. 431-443
    • Aguirre, G.D.1    Yashar, B.M.2    John, S.K.3
  • 5
    • 0033799623 scopus 로고    scopus 로고
    • Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15
    • Mears AJ, Hiriyanna S, Vervoort R, et al. Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. Am J Hum Genet. 2000;67:1000-1003.
    • (2000) Am J Hum Genet , vol.67 , pp. 1000-1003
    • Mears, A.J.1    Hiriyanna, S.2    Vervoort, R.3
  • 6
    • 0036204904 scopus 로고    scopus 로고
    • X-linked cone-rod dystrophy (locus COD1): Identification of mutations in RPGR exon ORF15
    • Demirci FY, Rigatti BW, Wen G, et al. X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. Am J Hum Genet. 2002;70:1049-1053.
    • (2002) Am J Hum Genet , vol.70 , pp. 1049-1053
    • Demirci, F.Y.1    Rigatti, B.W.2    Wen, G.3
  • 7
    • 0036501373 scopus 로고    scopus 로고
    • Mutations in the RPGR gene cause X-linked cone dystrophy
    • Yang Z, Peachey NS, Moshfeghi DM, Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet. 2002;11:605-611.
    • (2002) Hum Mol Genet , vol.11 , pp. 605-611
    • Yang, Z.1    Peachey, N.S.2    Moshfeghi, D.M.3
  • 8
    • 0036992832 scopus 로고    scopus 로고
    • X-linked recessive atrophic macular degeneration from RPGR mutation
    • Ayyagari R, Demirci F, Liu J, et al. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics. 2002;80:166.
    • (2002) Genomics , vol.80 , pp. 166
    • Ayyagari, R.1    Demirci, F.2    Liu, J.3
  • 9
    • 0026514159 scopus 로고
    • A family with RP3 type of X-linked retinitis pigmentosa: An association with ciliary abnormalities
    • 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.
    • (1992) Hum Genet , vol.88 , pp. 331-334
    • Van Dorp, D.B.1    Wright, A.F.2    Carothers, A.D.3    Bleeker-Wagemakers, E.M.4
  • 10
    • 0032935356 scopus 로고    scopus 로고
    • Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)
    • Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF. Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). Hum Mutat. 1999;13:141-145.
    • (1999) Hum Mutat , vol.13 , pp. 141-145
    • Dry, K.L.1    Manson, F.D.2    Lennon, A.3    Bergen, A.A.4    Van Dorp, D.B.5    Wright, A.F.6
  • 11
    • 0034284501 scopus 로고    scopus 로고
    • Identification of a novel protein interacting with RPGR
    • Boylan JP, Wright AF. Identification of a novel protein interacting with RPGR. Hum Mol Genet. 2000;9:2085-2093.
    • (2000) Hum Mol Genet , vol.9 , pp. 2085-2093
    • Boylan, J.P.1    Wright, A.F.2
  • 12
    • 0034284508 scopus 로고    scopus 로고
    • The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
    • Roepman R, Bernoud-Hubac N, Schick DE, et al. 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.
    • (2000) Hum Mol Genet , vol.9 , pp. 2095-2105
    • Roepman, R.1    Bernoud-Hubac, N.2    Schick, D.E.3
  • 13
    • 0035853834 scopus 로고    scopus 로고
    • A retinitis pigmentosa GTPase regulator (RPGR): Interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium
    • Hong DH, Yue G, Adamian M, Li T. A retinitis pigmentosa GTPase regulator (RPGR): interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium. J Biol Chem. 2001;276:12091-12099.
    • (2001) J Biol Chem , vol.276 , pp. 12091-12099
    • Hong, D.H.1    Yue, G.2    Adamian, M.3    Li, T.4
  • 14
    • 0035004268 scopus 로고    scopus 로고
    • Null RPGRIP alleles in patients with Leber congenital amaurosis
    • Dryja TP, Adams SM, Grimsby JL, et al. Null RPGRIP alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 2001;68:1295-1298.
    • (2001) Am J Hum Genet , vol.68 , pp. 1295-1298
    • Dryja, T.P.1    Adams, S.M.2    Grimsby, J.L.3
  • 15
    • 8944241311 scopus 로고    scopus 로고
    • Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
    • Roepman R, van Duijnhoven G, Rosenberg T, 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.
    • (1996) Hum Mol Genet , vol.5 , pp. 1035-1041
    • Roepman, R.1    Van Duijnhoven, G.2    Rosenberg, T.3
  • 16
    • 0032584734 scopus 로고    scopus 로고
    • Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRPGR)
    • Yan D, Swain PK, Breuer D, et al. Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRPGR). J Biol Chem. 1998;273:19656-19663.
    • (1998) J Biol Chem , vol.273 , pp. 19656-19663
    • Yan, D.1    Swain, P.K.2    Breuer, D.3
  • 17
    • 0034810215 scopus 로고    scopus 로고
    • DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements
    • Kirschner R, Erturk D, Zeitz C, et al. DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements. Hum Genet. 2001;109:271-278.
    • (2001) Hum Genet , vol.109 , pp. 271-278
    • Kirschner, R.1    Erturk, D.2    Zeitz, C.3
  • 18
    • 0034425755 scopus 로고    scopus 로고
    • Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
    • Vervoort R, Lennon A, Bird AC, et al. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000;25:462-466.
    • (2000) Nat Genet , vol.25 , pp. 462-466
    • Vervoort, R.1    Lennon, A.2    Bird, A.C.3
  • 19
    • 0032816282 scopus 로고    scopus 로고
    • RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa
    • Kirschner R, Rosenberg T, Schultz-Heienbrok R, et al. 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. 1999;8:1571-1578.
    • (1999) Hum Mol Genet , vol.8 , pp. 1571-1578
    • Kirschner, R.1    Rosenberg, T.2    Schultz-Heienbrok, R.3
  • 20
    • 0036846601 scopus 로고    scopus 로고
    • Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers
    • Hong DH, Li T. Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers. Invest Ophthatmol Vis Sci. 2002;43:3373-3382.
    • (2002) Invest Ophthatmol Vis Sci , vol.43 , pp. 3373-3382
    • Hong, D.H.1    Li, T.2
  • 21
    • 0036667989 scopus 로고    scopus 로고
    • Species-specific subcellular localization of RPGR and RPGRIP isoforms: Implications for the phenotypic variability of congenital retinopathies among species
    • Mavlyutov TA, Zhao H, Ferreira PA. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. Hum Mol Genet. 2002;11:1899-1907.
    • (2002) Hum Mol Genet , vol.11 , pp. 1899-1907
    • Mavlyutov, T.A.1    Zhao, H.2    Ferreira, P.A.3
  • 22
    • 0027535516 scopus 로고
    • Comparison of four purification methods for the production of immunoglobulins from eggs laid by hens immunized with an enterotoxigenic E. coli strain
    • Akita EM, Nakai S. Comparison of four purification methods for the production of immunoglobulins from eggs laid by hens immunized with an enterotoxigenic E. coli strain. J Immunol Methods. 1993;160:207-214.
    • (1993) J Immunol Methods , vol.160 , pp. 207-214
    • Akita, E.M.1    Nakai, S.2
  • 23
    • 0036140012 scopus 로고    scopus 로고
    • Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors
    • Liu Q, Zhou J, Daiger S, et al. Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Invest Ophthalmol Vis Sci. 2002;43:22-32.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 22-32
    • Liu, Q.1    Zhou, J.2    Daiger, S.3
  • 24
    • 0037064591 scopus 로고    scopus 로고
    • Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet
    • Yang J, Liu X, Yue G, Bulgakov O, Adamian M, Li T. Rootletin, a novel coiled-coil protein, is a structural component of the ciliary rootlet. J Cell Biol. 2002;159:431-440.
    • (2002) J Cell Biol , vol.159 , pp. 431-440
    • Yang, J.1    Liu, X.2    Yue, G.3    Bulgakov, O.4    Adamian, M.5    Li, T.6
  • 25
    • 0037187644 scopus 로고    scopus 로고
    • Massive light-driven translocation of transducin between the two major compartments of rod cells: A novel mechanism of light adaptation
    • Sokolov M, Lyubarsky AL, Strissel KJ, et al. Massive light-driven translocation of transducin between the two major compartments of rod cells: a novel mechanism of light adaptation. Neuron. 2002;34:95-106.
    • (2002) Neuron , vol.34 , pp. 95-106
    • Sokolov, M.1    Lyubarsky, A.L.2    Strissel, K.J.3
  • 26
    • 0024234940 scopus 로고
    • Monoclonal antibodies to rhodopsin and other proteins of rod outer segments
    • Molday R. Monoclonal antibodies to rhodopsin and other proteins of rod outer segments. Prog Retinal Res. 1988;8:174-209.
    • (1988) Prog Retinal Res , vol.8 , pp. 174-209
    • Molday, R.1
  • 27
    • 0033031796 scopus 로고    scopus 로고
    • Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
    • Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999;22:248-254.
    • (1999) Nat Genet , vol.22 , pp. 248-254
    • Pierce, E.A.1    Quinn, T.2    Meehan, T.3    McGee, T.L.4    Berson, E.L.5    Dryja, T.P.6
  • 28
    • 0016802455 scopus 로고
    • The sensory cilium of retinal rods is analogous to the transitional zone of motile cilia
    • Rohlich P. The sensory cilium of retinal rods is analogous to the transitional zone of motile cilia. Cell Tissue Res. 1975;161:421-430.
    • (1975) Cell Tissue Res , vol.161 , pp. 421-430
    • Rohlich, P.1
  • 29
    • 0002763351 scopus 로고
    • The photoreceptor connecting cilium: A model for the transition zone
    • Bloodgood RA. New York: Plenum
    • Besharse JC, Horst CJ. The photoreceptor connecting cilium: a model for the transition zone. In: Bloodgood RA. Ciliary and Flagellar Membranes. New York: Plenum; 1990;389-417.
    • (1990) Ciliary and Flagellar Membranes , pp. 389-417
    • Besharse, J.C.1    Horst, C.J.2
  • 31
    • 0014077497 scopus 로고
    • The renewal of photoreceptor cell outer segments
    • Young RW. The renewal of photoreceptor cell outer segments. J Cell Biol. 1967;33:61-72.
    • (1967) J Cell Biol , vol.33 , pp. 61-72
    • Young, R.W.1
  • 32
    • 0014558288 scopus 로고
    • Participation of the retinal pigment epithelium in the rod outer segment renewal process
    • Young RW, Bok D. Participation of the retinal pigment epithelium in the rod outer segment renewal process. J Cell Biol. 1969;42:392-403.
    • (1969) J Cell Biol , vol.42 , pp. 392-403
    • Young, R.W.1    Bok, D.2
  • 33
    • 0023687879 scopus 로고
    • Distribution of membrane proteins in mechanically dissociated retinal rods
    • Spencer M, Detwiler PB, Bunt-Milam AH. Distribution of membrane proteins in mechanically dissociated retinal rods. Invest Ophthalmol Vis Sci. 1988;29:1012-1020.
    • (1988) Invest Ophthalmol Vis Sci , vol.29 , pp. 1012-1020
    • Spencer, M.1    Detwiler, P.B.2    Bunt-Milam, A.H.3
  • 34
    • 0029808869 scopus 로고    scopus 로고
    • The actin network in the ciliary stalk of photoreceptors functions in the generation of new outer segment discs
    • Hale IL, Fisher SK, Matsumoto B. The actin network in the ciliary stalk of photoreceptors functions in the generation of new outer segment discs. J Comp Neurol. 1996;376:128-142.
    • (1996) J Comp Neurol , vol.376 , pp. 128-142
    • Hale, I.L.1    Fisher, S.K.2    Matsumoto, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.