메뉴 건너뛰기




Volumn 43, Issue 11, 2002, Pages 3373-3382

Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; COMPLEMENTARY DNA; GUANOSINE TRIPHOSPHATASE; REGULATOR PROTEIN; RETINITIS PIGMENTOSA GUANOSINE TRIPHOSPHATASE REGULATOR PROTEIN; SERINE; UNCLASSIFIED DRUG;

EID: 0036846601     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (63)

References (30)
  • 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
    • 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
  • 3
    • 0029984570 scopus 로고    scopus 로고
    • Nucleocytoplasmic transport
    • Gorlich D, Mattaj IW. Nucleocytoplasmic transport. Science. 1996;271:1513-1518.
    • (1996) Science , vol.271 , pp. 1513-1518
    • Gorlich, D.1    Mattaj, I.W.2
  • 4
    • 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
  • 5
    • 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
  • 6
    • 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
  • 7
    • 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
  • 8
    • 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, 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-Heienbrok3
  • 9
    • 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
  • 10
    • 0033854355 scopus 로고    scopus 로고
    • X-linked retinitis pigmentosa: Mutation spectrum of the RPGR and RP2 genes and correlation with visual function
    • Sharon D, Bruns GA, McGee TL, et al. X-linked retinitis pigmentosa: Mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci. 2000;41:2712-2721.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 2712-2721
    • Sharon, D.1    Bruns, G.A.2    McGee, T.L.3
  • 11
    • 18344391605 scopus 로고    scopus 로고
    • A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-lined retinitis pigmentosa
    • Breuer DK, Yashar BM, Filippova E, et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-lined retinitis pigmentosa. Am J Hum Genet. 2002;70:1545-1554.
    • (2002) Am J Hum Genet , vol.70 , pp. 1545-1554
    • Breuer, D.K.1    Yashar, B.M.2    Filippova, E.3
  • 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
    • 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
  • 14
    • 0027175502 scopus 로고
    • The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element
    • Xu R, Teng J, Cooper TA. The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element. Mol Cel BioL 1993;13:3660-3674.
    • (1993) Mol Cel BioL , vol.13 , pp. 3660-3674
    • Xu, R.1    Teng, J.2    Cooper, T.A.3
  • 15
    • 0027288912 scopus 로고
    • The role of exon sequences in splice site selection
    • Watakabe A, Tanaka K. Shimura, Y. The role of exon sequences in splice site selection. Genes Dev. 1993;7:407-418.
    • (1993) Genes Dev , vol.7 , pp. 407-418
    • Watakabe, A.1    Tanaka, K.2    Shimura, Y.3
  • 16
    • 0027143943 scopus 로고
    • A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding
    • Lavigueur A, Branche HL, Kornblihtt AR, Chabot B. A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding. Genes Dev. 1993;7:2405-2417.
    • (1993) Genes Dev , vol.7 , pp. 2405-2417
    • Lavigueur, A.1    Branche, H.L.2    Kornblihtt, A.R.3    Chabot, B.4
  • 17
    • 0032478506 scopus 로고    scopus 로고
    • Human Tra2 proteins are sequence-specific activators of pre-mRNA splicing
    • Tacke R, Tohyama M, Ogawa S. Manley JL. Human Tra2 proteins are sequence-specific activators of pre-mRNA splicing. Cell. 1998;93:139-148.
    • (1998) Cell , vol.93 , pp. 139-148
    • Tacke, R.1    Tohyama, M.2    Ogawa, S.3    Manley, J.L.4
  • 18
    • 0029144216 scopus 로고
    • A subset of SR proteins activates splicing of the cardiac troponin T alternative exon by direct interactions with an exonic enhancer
    • Ramchatesingh J, Zahler AM, Neugebauer KM, Roth MB, Cooper TA. A subset of SR proteins activates splicing of the cardiac troponin T alternative exon by direct interactions with an exonic enhancer. Mol Cell Biol. 1995;15:4898-4907.
    • (1995) Mol Cell Biol , vol.15 , pp. 4898-4907
    • Ramchatesingh, J.1    Zahler, A.M.2    Neugebauer, K.M.3    Roth, M.B.4    Cooper, T.A.5
  • 19
    • 0033059981 scopus 로고    scopus 로고
    • Formation of mRNA 3′ ends in eukaryotes: Mechanism, regulation and interrelationships with other steps in mRNA synthesis
    • Zhao J, Hyman L, Moore C. Formation of mRNA 3′ ends in eukaryotes: Mechanism, regulation and interrelationships with other steps in mRNA synthesis. Microbiol Mol Biol Rev. 1999;63:405-445.
    • (1999) Microbiol Mol Biol Rev , vol.63 , pp. 405-445
    • Zhao, J.1    Hyman, L.2    Moore, C.3
  • 20
    • 0032534537 scopus 로고    scopus 로고
    • Co-transcriptional commitment to alternative splice site selection
    • Roberts GC, Gooding C. Mak HY. Co-transcriptional commitment to alternative splice site selection. Nucleic Acids Res. 1998;26:5568-5572.
    • (1998) Nucleic Acids Res , vol.26 , pp. 5568-5572
    • Roberts, G.C.1    Gooding, C.2    Mak, H.Y.3
  • 21
    • 0025985784 scopus 로고
    • Transcriptional termination between the closely linked human complement genes C2 and factor B: Common termination factor for C2 and c-myc?
    • Ashfield R, Enriquez-Harris P, Proudfoot NJ. Transcriptional termination between the closely linked human complement genes C2 and factor B: Common termination factor for C2 and c-myc? EMBO J 1991;10:4197-4207.
    • (1991) EMBO J , vol.10 , pp. 4197-4207
    • Ashfield, R.1    Enriquez-Harris, P.2    Proudfoot, N.J.3
  • 22
    • 0027971691 scopus 로고
    • MAZ-dependent termination between closely spaced human complement genes
    • Ashfield R, Patel AJ, Bossone SA, et al. MAZ-dependent termination between closely spaced human complement genes. EMBO J. 1994;1356:5656-5667.
    • (1994) EMBO J , vol.1356 , pp. 5656-5667
    • Ashfield, R.1    Patel, A.J.2    Bossone, S.A.3
  • 23
    • 0029160032 scopus 로고
    • A 240 kDa protein represents the complete beta subunit of the cyclic nucleotide-gated channel from rod photoreceptor
    • Korschen HG, Illing M, Seifert R, et al. A 240 kDa protein represents the complete beta subunit of the cyclic nucleotide-gated channel from rod photoreceptor. Neuron. 1995;15:627-636.
    • (1995) Neuron , vol.15 , pp. 627-636
    • Korschen, H.G.1    Illing, M.2    Seifert, R.3
  • 24
    • 0034906754 scopus 로고    scopus 로고
    • Alternative RNA splicing in the nervous system
    • Grabowski PJ, Black DL. Alternative RNA splicing in the nervous system. Prog Neurobiol. 2001;65:289-308.
    • (2001) Prog Neurobiol , vol.65 , pp. 289-308
    • Grabowski, P.J.1    Black, D.L.2
  • 25
    • 0033105008 scopus 로고    scopus 로고
    • Terminal exon definition occurs cotranscriptionally and promotes termination of RNA polymerase II
    • Dye MJ Proudfoot NJ. Terminal exon definition occurs cotranscriptionally and promotes termination of RNA polymerase II. Mol Cell. 1999;3:371-378.
    • (1999) Mol Cell , vol.3 , pp. 371-378
    • Dye, M.J.1    Proudfoot, N.J.2
  • 26
    • 17944379537 scopus 로고    scopus 로고
    • A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
    • Vithana EN, Abu-Safieh L, Allen MJ, et al. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell. 2001;8:375-381.
    • (2001) Mol Cell , vol.8 , pp. 375-381
    • Vithana, E.N.1    Abu-Safieh, L.2    Allen, M.J.3
  • 27
    • 0035878541 scopus 로고    scopus 로고
    • Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
    • McKie AB, McHale JC, Keen TJ, et al. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet. 2001;10:1555-1562.
    • (2001) Hum Mol Genet , vol.10 , pp. 1555-1562
    • McKie, A.B.1    McHale, J.C.2    Keen, T.J.3
  • 28
    • 18244377189 scopus 로고    scopus 로고
    • Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
    • Chakarova CF, Hims MM, Bolz H, et al. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2002;11:87-92.
    • (2002) Hum Mol Genet , vol.11 , pp. 87-92
    • Chakarova, C.F.1    Hims, M.M.2    Bolz, H.3
  • 29
    • 0034753546 scopus 로고    scopus 로고
    • RP11 and RP13: Unexpected gene loci
    • Chen C-K, Baehr W. RP11 and RP13: Unexpected gene loci. Trends Mol Med. 2001;7:484-486.
    • (2001) Trends Mol Med , vol.7 , pp. 484-486
    • Chen, C.-K.1    Baehr, W.2
  • 30
    • 0032006277 scopus 로고    scopus 로고
    • Splicing in the inner ear; a familiar tune, but what are the instruments?
    • Black DL. Splicing in the inner ear; a familiar tune, but what are the instruments? Neuron. 1998;20:165-168.
    • (1998) Neuron , vol.20 , pp. 165-168
    • Black, D.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.