메뉴 건너뛰기




Volumn 25, Issue 3, 2005, Pages 748-757

Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells

Author keywords

Apoptosis; Autosomal dominant retinitis pigmentosa (adRP); pre mRNA splicing; PRPF31; Retinal cells; Rhodopsin

Indexed keywords

MUTANT PROTEIN; RHODOPSIN; RNA;

EID: 12744278348     PISSN: 02706474     EISSN: None     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.2399-04.2005     Document Type: Article
Times cited : (62)

References (50)
  • 2
    • 0030801280 scopus 로고    scopus 로고
    • The yeast Prp3 protein is a U4/U6 snRNP protein necessary for integrity of the U4/U6 snRNP and the U4/U6.U5 tri-snRNP
    • Anthony JG, Weidenhammer EM, Woolford Jr JL (1997) The yeast Prp3 protein is a U4/U6 snRNP protein necessary for integrity of the U4/U6 snRNP and the U4/U6.U5 tri-snRNP. RNA 3:1143-1152.
    • (1997) RNA , vol.3 , pp. 1143-1152
    • Anthony, J.G.1    Weidenhammer, E.M.2    Woolford Jr., J.L.3
  • 3
    • 0034753546 scopus 로고    scopus 로고
    • RP11 and RP13: Unexpected gene loci
    • Baehr W, Chen CK (2001) RP11 and RP13: unexpected gene loci. Trends Mol Med 7:484-486.
    • (2001) Trends Mol Med , vol.7 , pp. 484-486
    • Baehr, W.1    Chen, C.K.2
  • 4
    • 0033836031 scopus 로고    scopus 로고
    • Gene therapy for retinitis pigmentosa
    • Bennett J (2002) Gene therapy for retinitis pigmentosa. Curr Opin Mol Ther 2:420-425.
    • (2002) Curr Opin Mol Ther , vol.2 , pp. 420-425
    • Bennett, J.1
  • 5
    • 0034209837 scopus 로고    scopus 로고
    • Isolation of an essential Schizosaccharomyces pombe gene, prp31(+), that links splicing and meiosis
    • Bishop DT, McDonald WH, Gould KL, Forsburg SL (2001) Isolation of an essential Schizosaccharomyces pombe gene, prp31(+), that links splicing and meiosis. Nucleic Acids Res 28:2214-2220.
    • (2001) Nucleic Acids Res , vol.28 , pp. 2214-2220
    • Bishop, D.T.1    McDonald, W.H.2    Gould, K.L.3    Forsburg, S.L.4
  • 6
    • 0001468848 scopus 로고    scopus 로고
    • Gesteland RF, Cech TR, Atkins JF, eds, New York: Cold Spring Harbor Laboratory
    • Burge CB, Tuschl TH, Sharp PA (1999) The RNA world (Gesteland RF, Cech TR, Atkins JF, eds), pp 525-560. New York: Cold Spring Harbor Laboratory.
    • (1999) The RNA World , pp. 525-560
    • Burge, C.B.1    Tuschl, T.H.2    Sharp, P.A.3
  • 8
    • 0027521914 scopus 로고
    • Apoptosis: Final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice
    • Chang GQ, Hao Y, Wong F (1993) Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice. Neuron 11:595-605.
    • (1993) Neuron , vol.11 , pp. 595-605
    • Chang, G.Q.1    Hao, Y.2    Wong, F.3
  • 9
    • 0036756904 scopus 로고    scopus 로고
    • Gene therapy for genetic and acquired retinal diseases
    • Chaum E, Hatton MP (2002) Gene therapy for genetic and acquired retinal diseases. Surv Ophthalmol 47:449-469.
    • (2002) Surv Ophthalmol , vol.47 , pp. 449-469
    • Chaum, E.1    Hatton, M.P.2
  • 10
    • 0035970031 scopus 로고    scopus 로고
    • Caspase-2 pre-mRNA alternative splicing: Identification of an intronic element containing a decoy 3′ acceptor site
    • Cote J, Dupuis S, Jiang Z, Wu JY (2001) Caspase-2 pre-mRNA alternative splicing: identification of an intronic element containing a decoy 3′ acceptor site. Proc Natl Acad Sci USA 98:938-943.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 938-943
    • Cote, J.1    Dupuis, S.2    Jiang, Z.3    Wu, J.Y.4
  • 12
    • 0034925427 scopus 로고    scopus 로고
    • Gene therapy and retinitis pigmentosa: Advances and future challenges
    • Dejneka NS, Bennett J (2001) Gene therapy and retinitis pigmentosa: advances and future challenges. BioEssays 23:662-668.
    • (2001) BioEssays , vol.23 , pp. 662-668
    • Dejneka, N.S.1    Bennett, J.2
  • 13
    • 0035230130 scopus 로고    scopus 로고
    • The splice of life: Alternative splicing and neurological disease
    • Dredge BK, Polydorides A, Darnell RB (2001) The splice of life: alternative splicing and neurological disease. Nat Neurosci Rev 2:43-50.
    • (2001) Nat Neurosci Rev , vol.2 , pp. 43-50
    • Dredge, B.K.1    Polydorides, A.2    Darnell, R.B.3
  • 14
    • 0033823792 scopus 로고    scopus 로고
    • Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa
    • Dryja TP, McEvoy JA, McGee TL, Berson EL (2000) Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 41:3124-3127.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 3124-3127
    • Dryja, T.P.1    McEvoy, J.A.2    McGee, T.L.3    Berson, E.L.4
  • 16
    • 0036500230 scopus 로고    scopus 로고
    • On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention
    • Farrar GJ, Kenna PF, Humphries P (2002) On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention. EMBO J 21:857-864.
    • (2002) EMBO J , vol.21 , pp. 857-864
    • Farrar, G.J.1    Kenna, P.F.2    Humphries, P.3
  • 17
    • 0037443035 scopus 로고    scopus 로고
    • Pre-mRNA splicing and human disease
    • Faustino NA, Cooper TA (2003) Pre-mRNA splicing and human disease. Genes Dev 17:419-437.
    • (2003) Genes Dev , vol.17 , pp. 419-437
    • Faustino, N.A.1    Cooper, T.A.2
  • 18
    • 0034906754 scopus 로고    scopus 로고
    • Alternative RNA splicing in the nervous system
    • Grabowski PJ, Black DL (2001) Alternative RNA splicing in the nervous system. Prog Neurobiol 65:289-308.
    • (2001) Prog Neurobiol , vol.65 , pp. 289-308
    • Grabowski, P.J.1    Black, D.L.2
  • 19
  • 20
    • 0042285484 scopus 로고    scopus 로고
    • Retinitis pigmentosa: Genes, proteins and prospects
    • Hims MM, Diager SP, Inglehearn CF (2003) Retinitis pigmentosa: genes, proteins and prospects. Dev Ophthalmol 37:109-125.
    • (2003) Dev Ophthalmol , vol.37 , pp. 109-125
    • Hims, M.M.1    Diager, S.P.2    Inglehearn, C.F.3
  • 22
    • 0031822951 scopus 로고    scopus 로고
    • Molecular genetics of human retinal dystrophies
    • Inglehearn CF (1998) Molecular genetics of human retinal dystrophies. Eye 12:571-579.
    • (1998) Eye , vol.12 , pp. 571-579
    • Inglehearn, C.F.1
  • 23
    • 0034073995 scopus 로고    scopus 로고
    • Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17
    • Jiang Z, Cote J, Kwon JM, Goate AM, Wu JY (2000) Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17. Mol Cell Biol 20:4036-4048.
    • (2000) Mol Cell Biol , vol.20 , pp. 4036-4048
    • Jiang, Z.1    Cote, J.2    Kwon, J.M.3    Goate, A.M.4    Wu, J.Y.5
  • 24
    • 0032482968 scopus 로고    scopus 로고
    • Regulation of Ich-1 pre-mRNA alternative splicing and apoptosis by mammalian splicing factors
    • Jiang ZH, Zhang WJ, Rao Y, Wu JY (1998) Regulation of Ich-1 pre-mRNA alternative splicing and apoptosis by mammalian splicing factors. Proc Natl Acad Sci USA 95:9155-9160.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 9155-9160
    • Jiang, Z.H.1    Zhang, W.J.2    Rao, Y.3    Wu, J.Y.4
  • 26
    • 0033582927 scopus 로고    scopus 로고
    • Vertebrate Slit, a secreted ligand for the transmembrane protein Roundabout, is a repellent for olfactory bulb axons
    • Li HS, Chen JH, Wu W, Fagaly T, Zhou L, Dupuis S, Jiang ZH, Nash W, Gick C, Wu JY, Rao Y (1999) Vertebrate Slit, a secreted ligand for the transmembrane protein Roundabout, is a repellent for olfactory bulb axons. Cell 96:807-818.
    • (1999) Cell , vol.96 , pp. 807-818
    • Li, H.S.1    Chen, J.H.2    Wu, W.3    Fagaly, T.4    Zhou, L.5    Dupuis, S.6    Zh, J.7    Nash, W.8    Gick, C.9    Wu, J.Y.10    Rao, Y.11
  • 28
    • 0030010384 scopus 로고    scopus 로고
    • Six novel genes necessary for pre-mRNA splicing in Saccharomyces cerevisiae
    • Maddock JR, Roy J, Woolford Jr JL (1996) Six novel genes necessary for pre-mRNA splicing in Saccharomyces cerevisiae. Nucleic Acids Res 24:1037-1044.
    • (1996) Nucleic Acids Res , vol.24 , pp. 1037-1044
    • Maddock, J.R.1    Roy, J.2    Woolford Jr., J.L.3
  • 30
    • 0036500141 scopus 로고    scopus 로고
    • Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing
    • Makarova OV, Makarov EM, Liu S, Vornlocher HP, Luhrmann R (2002) Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. EMBO J 21:1148-1157.
    • (2002) EMBO J , vol.21 , pp. 1148-1157
    • Makarova, O.V.1    Makarov, E.M.2    Liu, S.3    Vornlocher, H.P.4    Luhrmann, R.5
  • 33
    • 0034081449 scopus 로고    scopus 로고
    • Selective transplantation of rods delays cone loss in a retinitis pigmentosa model
    • Mohand-Said S, Hicks D, Dreyfus and H, Sahel JA (2000) Selective transplantation of rods delays cone loss in a retinitis pigmentosa model. Arch Ophthalmol 118:807-811.
    • (2000) Arch Ophthalmol , vol.118 , pp. 807-811
    • Mohand-Said, S.1    Hicks, D.2    Dreyfus, H.3    Sahel, J.A.4
  • 34
    • 0027260399 scopus 로고
    • Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: A clinical, electrophysiological, psychophysical, and molecular genetic study
    • Moore AT, Fitzke F, Jay M, Arden GB, Inglehearn CF, Keen TJ, Bhattacharya SS, Bird AC (1993) Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. Br J Ophthalmol 77:473-479.
    • (1993) Br J Ophthalmol , vol.77 , pp. 473-479
    • Moore, A.T.1    Fitzke, F.2    Jay, M.3    Arden, G.B.4    Inglehearn, C.F.5    Keen, T.J.6    Bhattacharya, S.S.7    Bird, A.C.8
  • 35
    • 0042357381 scopus 로고    scopus 로고
    • Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations
    • Pacione LR, Szego MJ, Ikeda S, Nishina PM, McInnes RR (2003) Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations. Annu Rev Neurosci 26:657-700.
    • (2003) Annu Rev Neurosci , vol.26 , pp. 657-700
    • Pacione, L.R.1    Szego, M.J.2    Ikeda, S.3    Nishina, P.M.4    McInnes, R.R.5
  • 37
    • 0034622122 scopus 로고    scopus 로고
    • A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes
    • Phelan JK, Bok D (2000) A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. Mol Vis 6:116-124.
    • (2000) Mol Vis , vol.6 , pp. 116-124
    • Phelan, J.K.1    Bok, D.2
  • 38
    • 0036202158 scopus 로고    scopus 로고
    • Transplantation of intact sheets of fetal neural retina with its retinal pigment epithelium in retinitis pigmentosa patients
    • Radtke ND, Seiler MJ, Aramant RB, Petry HM, Pidwell DJ (2002) Transplantation of intact sheets of fetal neural retina with its retinal pigment epithelium in retinitis pigmentosa patients. Am J Ophthalmol 133:544-550.
    • (2002) Am J Ophthalmol , vol.133 , pp. 544-550
    • Radtke, N.D.1    Seiler, M.J.2    Aramant, R.B.3    Petry, H.M.4    Pidwell, D.J.5
  • 39
    • 0037095736 scopus 로고    scopus 로고
    • Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns
    • Rivolta C, Sharon D, DeAngelis MM, Dryja TP (2002) Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 11:1219-1227.
    • (2002) Hum Mol Genet , vol.11 , pp. 1219-1227
    • Rivolta, C.1    Sharon, D.2    DeAngelis, M.M.3    Dryja, T.P.4
  • 40
    • 0036056332 scopus 로고    scopus 로고
    • Transcriptome analysis of the retina
    • Swaroop A, Zack DJ (2002) Transcriptome analysis of the retina. Genome Biol 3:1022.1-1022.4.
    • (2002) Genome Biol , vol.3
    • Swaroop, A.1    Zack, D.J.2
  • 41
    • 0028300856 scopus 로고
    • Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa
    • Vaithinathan R, Berson EL, Dryja TP (1994) Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics 21:461-463.
    • (1994) Genomics , vol.21 , pp. 461-463
    • Vaithinathan, R.1    Berson, E.L.2    Dryja, T.P.3
  • 45
    • 0029874329 scopus 로고    scopus 로고
    • The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae
    • Weidenhammer EM, Singh M, Ruiz-Noriega M, Woolford Jr JL (1996) The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae. Nucleic Acids Res 24:164-170.
    • (1996) Nucleic Acids Res , vol.24 , pp. 164-170
    • Weidenhammer, E.M.1    Singh, M.2    Ruiz-Noriega, M.3    Woolford Jr., J.L.4
  • 46
    • 0030927321 scopus 로고    scopus 로고
    • Prp31p promotes the association of the U4/U6 x U5 tri-snRNP with prespliceosomes to form spliceosomes in Saccharomyces cerevisiae
    • Weidenhammer EM, Ruiz-Noriega M, Woolford Jr JL (1997) Prp31p promotes the association of the U4/U6 x U5 tri-snRNP with prespliceosomes to form spliceosomes in Saccharomyces cerevisiae. Mol Cell Biol 17:3580-3588.
    • (1997) Mol Cell Biol , vol.17 , pp. 3580-3588
    • Weidenhammer, E.M.1    Ruiz-Noriega, M.2    Woolford Jr., J.L.3
  • 47
    • 0345239828 scopus 로고    scopus 로고
    • Alternative pre-mRNA splicing and regulation of programmed cell death
    • Jeanteur P, ed, New York: Springer
    • Wu JY, Tang H, Havlioglu N (2003) Alternative pre-mRNA splicing and regulation of programmed cell death. In: Progress in molecular and subcellular biology, Vol 31 (Jeanteur P, ed), pp 153-185. New York: Springer.
    • (2003) Progress in Molecular and Subcellular Biology , vol.31 , pp. 153-185
    • Wu, J.Y.1    Tang, H.2    Havlioglu, N.3
  • 49
    • 0033595192 scopus 로고    scopus 로고
    • Directional guidance of neuronal migration in the olfactory system by the secreted protein Slit
    • Wu W, Wong K, Chen JH, Jiang ZH, Dupuis S, Wu JY, Rao Y (1999) Directional guidance of neuronal migration in the olfactory system by the secreted protein Slit. Nature 400:331-336.
    • (1999) Nature , vol.400 , pp. 331-336
    • Wu, W.1    Wong, K.2    Chen, J.H.3    Jiang, Z.H.4    Dupuis, S.5    Wu, J.Y.6    Rao, Y.7
  • 50
    • 0037068447 scopus 로고    scopus 로고
    • Comprehensive proteomic analysis of the human sliceosome
    • Zhou Z, Licklider LJ, Gygi SP, Reed R (2002) Comprehensive proteomic analysis of the human sliceosome. Nature 419:182-185.
    • (2002) Nature , vol.419 , pp. 182-185
    • Zhou, Z.1    Licklider, L.J.2    Gygi, S.P.3    Reed, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.