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Volumn 14, Issue 11, 2007, Pages 1077-1083

Prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast

Author keywords

[No Author keywords available]

Indexed keywords

PRP8 PROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN; UNCLASSIFIED DRUG;

EID: 35848950003     PISSN: 15459993     EISSN: 15459985     Source Type: Journal    
DOI: 10.1038/nsmb1303     Document Type: Article
Times cited : (85)

References (45)
  • 1
    • 0035370526 scopus 로고    scopus 로고
    • Spliceosomal UsnRNP biogenesis, structure and function
    • Will, C.L. & Lührmann, R. Spliceosomal UsnRNP biogenesis, structure and function. Curr. Opin. Cell Biol. 13, 290-301 (2001).
    • (2001) Curr. Opin. Cell Biol , vol.13 , pp. 290-301
    • Will, C.L.1    Lührmann, R.2
  • 2
    • 0042671357 scopus 로고    scopus 로고
    • Pre-mRNA splicing: Awash in a sea of proteins
    • Jurica, M.S. & Moore, M.J. Pre-mRNA splicing: awash in a sea of proteins. Mol. Cell 12, 5-14 (2003).
    • (2003) Mol. Cell , vol.12 , pp. 5-14
    • Jurica, M.S.1    Moore, M.J.2
  • 3
    • 0035878541 scopus 로고    scopus 로고
    • Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
    • McKie, A.B. et al. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum. Mol. Genet. 10, 1555-1562 (2001).
    • (2001) Hum. Mol. Genet , vol.10 , pp. 1555-1562
    • McKie, A.B.1
  • 4
    • 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, E.N. et al. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol. Cell 8, 375-381 (2001).
    • (2001) Mol. Cell , vol.8 , pp. 375-381
    • Vithana, E.N.1
  • 5
    • 18244377189 scopus 로고    scopus 로고
    • Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
    • Chakarova, C.F. et al. Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum. Mol. Genet. 11, 87-92 (2002).
    • (2002) Hum. Mol. Genet , vol.11 , pp. 87-92
    • Chakarova, C.F.1
  • 6
    • 85047697400 scopus 로고    scopus 로고
    • Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa
    • Keen, T.J. et al. Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur. J. Hum. Genet. 10, 245-249 (2002).
    • (2002) Eur. J. Hum. Genet , vol.10 , pp. 245-249
    • Keen, T.J.1
  • 7
    • 4744354996 scopus 로고    scopus 로고
    • PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor
    • Maita, H. et al. PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. Exp. Cell Res. 300, 283-296 (2004).
    • (2004) Exp. Cell Res , vol.300 , pp. 283-296
    • Maita, H.1
  • 8
    • 12344275917 scopus 로고    scopus 로고
    • Biogenesis of small nuclear RNPs
    • Kiss, T. Biogenesis of small nuclear RNPs. J. Cell Sci. 117, 5949-5951 (2004).
    • (2004) J. Cell Sci , vol.117 , pp. 5949-5951
    • Kiss, T.1
  • 9
    • 2342491601 scopus 로고    scopus 로고
    • Assembly and traffic of small nuclear RNPs
    • Bertrand, E. & Bordonne, R. Assembly and traffic of small nuclear RNPs. Prog. Mol. Subcell. Biol. 35, 79-97 (2004).
    • (2004) Prog. Mol. Subcell. Biol , vol.35 , pp. 79-97
    • Bertrand, E.1    Bordonne, R.2
  • 10
    • 2142819496 scopus 로고    scopus 로고
    • Why do cells need an assembly machine for RNA-protein complexes?
    • Yong, J., Wan, L. & Dreyfuss, G. Why do cells need an assembly machine for RNA-protein complexes? Trends Cell Biol. 14, 226-232 (2004).
    • (2004) Trends Cell Biol , vol.14 , pp. 226-232
    • Yong, J.1    Wan, L.2    Dreyfuss, G.3
  • 11
    • 0032527283 scopus 로고    scopus 로고
    • Snurportin1, an m3G-cap-specific nuclear import receptor with a novel domain structure
    • Huber, J. et al. Snurportin1, an m3G-cap-specific nuclear import receptor with a novel domain structure. EMBO J. 17, 4114-4126 (1998).
    • (1998) EMBO J , vol.17 , pp. 4114-4126
    • Huber, J.1
  • 12
    • 0026480865 scopus 로고
    • Assembly and localization of the U1-specific snRNP C protein in the amphibian oocyte
    • Jantsch, M.F. & Gall, J.G. Assembly and localization of the U1-specific snRNP C protein in the amphibian oocyte. J. Cell Biol. 119, 1037-1046 (1992).
    • (1992) J. Cell Biol , vol.119 , pp. 1037-1046
    • Jantsch, M.F.1    Gall, J.G.2
  • 13
    • 0028234574 scopus 로고
    • The U1 small nuclear ribonucleoprotein (snRNP) 70k protein is transported independently of U1 snRNP particles via a nuclear localization signal in the RNA-binding domain
    • Romac, J.M.J., Graff, D.H. & Keene, J.D. The U1 small nuclear ribonucleoprotein (snRNP) 70k protein is transported independently of U1 snRNP particles via a nuclear localization signal in the RNA-binding domain. Mol. Cell. Biol. 14, 4662-4670 (1994).
    • (1994) Mol. Cell. Biol , vol.14 , pp. 4662-4670
    • Romac, J.M.J.1    Graff, D.H.2    Keene, J.D.3
  • 14
    • 0034707624 scopus 로고    scopus 로고
    • An ATP-dependent, Ran-independent mechanism for nuclear import of the U1A and U2B″ spliceosome proteins
    • Hetzer, M. & Mattaj, I.W. An ATP-dependent, Ran-independent mechanism for nuclear import of the U1A and U2B″ spliceosome proteins. J. Cell Biol. 148, 293-304 (2000).
    • (2000) J. Cell Biol , vol.148 , pp. 293-304
    • Hetzer, M.1    Mattaj, I.W.2
  • 15
    • 5444231229 scopus 로고    scopus 로고
    • A role for Cajal bodies in the final steps of U2 snRNP biogenesis
    • Nesic, D., Tanackovic, G. & Kramer, A. A role for Cajal bodies in the final steps of U2 snRNP biogenesis. J. Cell Sci. 117, 4423-4433 (2004).
    • (2004) J. Cell Sci , vol.117 , pp. 4423-4433
    • Nesic, D.1    Tanackovic, G.2    Kramer, A.3
  • 16
    • 0034646512 scopus 로고    scopus 로고
    • PHAX, a mediator of U snRNA nuclear export whose activity is regulated by phosphorylation
    • Ohno, M., Segref, A., Bachi, A., Wilm, M. & Mattaj, I.W. PHAX, a mediator of U snRNA nuclear export whose activity is regulated by phosphorylation. Cell 101, 187-198 (2000).
    • (2000) Cell , vol.101 , pp. 187-198
    • Ohno, M.1    Segref, A.2    Bachi, A.3    Wilm, M.4    Mattaj, I.W.5
  • 17
    • 17844395704 scopus 로고    scopus 로고
    • Prp8 protein: At the heart of the spliceosome
    • Grainger, R.J. & Beggs, J.D. Prp8 protein: at the heart of the spliceosome. RNA 11, 533-557 (2005).
    • (2005) RNA , vol.11 , pp. 533-557
    • Grainger, R.J.1    Beggs, J.D.2
  • 18
    • 0023972998 scopus 로고
    • Cloning of the RNA8 gene of Saccharomyces cerevisiae, detection of the RNA8 protein, and demonstration that it is essential for nuclear pre-mRNA splicing
    • Jackson, S.P., Lossky, M. & Beggs, J.D. Cloning of the RNA8 gene of Saccharomyces cerevisiae, detection of the RNA8 protein, and demonstration that it is essential for nuclear pre-mRNA splicing. Mol. Cell. Biol. 8, 1067-1075 (1988).
    • (1988) Mol. Cell. Biol , vol.8 , pp. 1067-1075
    • Jackson, S.P.1    Lossky, M.2    Beggs, J.D.3
  • 19
    • 0033028397 scopus 로고    scopus 로고
    • The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes
    • Luo, H.R., Moreau, G.A., Levin, N. & Moore, M.J. The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes. RNA 5, 893-908 (1999).
    • (1999) RNA , vol.5 , pp. 893-908
    • Luo, H.R.1    Moreau, G.A.2    Levin, N.3    Moore, M.J.4
  • 20
    • 0242416957 scopus 로고    scopus 로고
    • Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa
    • Martinez-Gimeno, M. et al. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 44, 2171-2177 (2003).
    • (2003) Invest. Ophthalmol. Vis. Sci , vol.44 , pp. 2171-2177
    • Martinez-Gimeno, M.1
  • 21
    • 0037337730 scopus 로고    scopus 로고
    • Diagnosis of autosomal dominant retinitis pigmentosa by linkage-based exclusion screening with multiple locus-specific microsatellite markers
    • Kondo, H. et al. Diagnosis of autosomal dominant retinitis pigmentosa by linkage-based exclusion screening with multiple locus-specific microsatellite markers. Invest. Ophthalmol. Vis. Sci. 44, 1275-1281 (2003).
    • (2003) Invest. Ophthalmol. Vis. Sci , vol.44 , pp. 1275-1281
    • Kondo, H.1
  • 22
    • 33646977544 scopus 로고    scopus 로고
    • Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): A comprehensive study of 43 Italian families
    • Ziviello, C. et al. Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. J. Med. Genet. 42, e47 (2005).
    • (2005) J. Med. Genet , vol.42
    • Ziviello, C.1
  • 23
    • 33845335783 scopus 로고    scopus 로고
    • Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene
    • Testa, F. et al. Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. Eur. J. Ophthalmol. 16, 779-781 (2006).
    • (2006) Eur. J. Ophthalmol , vol.16 , pp. 779-781
    • Testa, F.1
  • 24
    • 35848955064 scopus 로고    scopus 로고
    • Novel mutations in the PRPC8 gene, encoding a pre-mRNA splicing factor in patients with autosomal dominant retinitis pigmentosa
    • e-abstract 791
    • De Erkenez, A.C., Berson, E.L. & Dryja, T.P. Novel mutations in the PRPC8 gene, encoding a pre-mRNA splicing factor in patients with autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 43 e-abstract 791 (2002).
    • (2002) Invest. Ophthalmol. Vis. Sci , vol.43
    • De Erkenez, A.C.1    Berson, E.L.2    Dryja, T.P.3
  • 25
    • 0035161659 scopus 로고    scopus 로고
    • The yeast U5 snRNP coisolated with the U1 snRNP has an unexpected protein composition and includes the splicing factor Aar2p
    • Gottschalk, A., Kastner, B., Lührmann, R. & Fabrizio, P. The yeast U5 snRNP coisolated with the U1 snRNP has an unexpected protein composition and includes the splicing factor Aar2p. RNA 7, 1554-1565 (2001).
    • (2001) RNA , vol.7 , pp. 1554-1565
    • Gottschalk, A.1    Kastner, B.2    Lührmann, R.3    Fabrizio, P.4
  • 26
    • 0035161567 scopus 로고    scopus 로고
    • Biochemical and genetic analysis of the U5, U6, and U4/U6.U5 small nuclear ribonucleoproteins from Saccharomyces cerevisiae
    • Stevens, S.W. et al. Biochemical and genetic analysis of the U5, U6, and U4/U6.U5 small nuclear ribonucleoproteins from Saccharomyces cerevisiae. RNA 7, 1543-1553 (2001).
    • (2001) RNA , vol.7 , pp. 1543-1553
    • Stevens, S.W.1
  • 27
    • 0028960809 scopus 로고
    • A novel role for a U5 snRNP protein in 3′ splice site selection
    • Umen, J.G. & Guthrie, C. A novel role for a U5 snRNP protein in 3′ splice site selection. Genes Dev. 9, 855-868 (1995).
    • (1995) Genes Dev , vol.9 , pp. 855-868
    • Umen, J.G.1    Guthrie, C.2
  • 28
    • 0033776919 scopus 로고    scopus 로고
    • Functional characterization of nuclear localization signals in yeast Sm proteins
    • Bordonne, R. Functional characterization of nuclear localization signals in yeast Sm proteins. Mol. Cell. Biol. 20, 7943-7954 (2000).
    • (2000) Mol. Cell. Biol , vol.20 , pp. 7943-7954
    • Bordonne, R.1
  • 29
    • 0031741144 scopus 로고    scopus 로고
    • The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein
    • Achsel, T., Ahrens, K., Brahms, H., Teigelkamp, S. & Lührmann, R. The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein. Mol. Cell. Biol. 18, 6756-6766 (1998).
    • (1998) Mol. Cell. Biol , vol.18 , pp. 6756-6766
    • Achsel, T.1    Ahrens, K.2    Brahms, H.3    Teigelkamp, S.4    Lührmann, R.5
  • 30
    • 0035053295 scopus 로고    scopus 로고
    • Functional contacts with a range of splicing proteins suggest a central role for Brr2p in the dynamic control of the order of events in spliceosomes
    • van Nues, R.W. & Beggs, J.D. Functional contacts with a range of splicing proteins suggest a central role for Brr2p in the dynamic control of the order of events in spliceosomes. Genetics 157, 1451-1467 (2001).
    • (2001) Genetics , vol.157 , pp. 1451-1467
    • van Nues, R.W.1    Beggs, J.D.2
  • 31
    • 33847053558 scopus 로고    scopus 로고
    • Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa
    • Pena, V., Liu, S., Bujnicki, J.M., Lührmann, R. & Wahl, M.C. Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa. Mol. Cell 25, 615-624 (2007).
    • (2007) Mol. Cell , vol.25 , pp. 615-624
    • Pena, V.1    Liu, S.2    Bujnicki, J.M.3    Lührmann, R.4    Wahl, M.C.5
  • 32
    • 0025873549 scopus 로고
    • Diversity in the signals required for nuclear accumulation of U snRNPs and variety in the pathways of nuclear transport
    • Fischer, U. et al. Diversity in the signals required for nuclear accumulation of U snRNPs and variety in the pathways of nuclear transport. J. Cell Biol. 113, 705-714 (1991).
    • (1991) J. Cell Biol , vol.113 , pp. 705-714
    • Fischer, U.1
  • 33
    • 31044438832 scopus 로고    scopus 로고
    • Prp8p dissection reveals domain structure and protein interaction sites
    • Boon, K.-L., Norman, C.M., Grainger, R.J., Newman, A.J. & Beggs, J.D. Prp8p dissection reveals domain structure and protein interaction sites. RNA 12, 198-205 (2005).
    • (2005) RNA , vol.12 , pp. 198-205
    • Boon, K.-L.1    Norman, C.M.2    Grainger, R.J.3    Newman, A.J.4    Beggs, J.D.5
  • 34
    • 0023549671 scopus 로고
    • Monitoring communications between photoreceptors and pigment epithelial cells: Effects of "mild" systemic hypoxia. Friedenwald lecture
    • Steinberg, R.H. Monitoring communications between photoreceptors and pigment epithelial cells: effects of "mild" systemic hypoxia. Friedenwald lecture. Invest. Ophthalmol. Vis. Sci. 28, 1888-1904 (1987).
    • (1987) Invest. Ophthalmol. Vis. Sci , vol.28 , pp. 1888-1904
    • Steinberg, R.H.1
  • 35
    • 0037443035 scopus 로고    scopus 로고
    • Pre-mRNA splicing and human disease
    • Faustino, N.A. & Cooper, T.A. Pre-mRNA splicing and human disease. Genes Dev. 17, 419-437 (2003).
    • (2003) Genes Dev , vol.17 , pp. 419-437
    • Faustino, N.A.1    Cooper, T.A.2
  • 36
    • 0031820288 scopus 로고    scopus 로고
    • Additional modules for versatile and economical PCR-based gene deletion and modification in Saccharomyces cerevisiae
    • Longtine, M.S. et al. Additional modules for versatile and economical PCR-based gene deletion and modification in Saccharomyces cerevisiae. Yeast 14, 953-961 (1998).
    • (1998) Yeast , vol.14 , pp. 953-961
    • Longtine, M.S.1
  • 37
    • 0033105003 scopus 로고    scopus 로고
    • Interaction of the U1 snRNP with nonconserved intronic sequences affects 5′ splice site selection
    • Puig, O., Gottschalk, A., Fabrizio, P. & Seraphin, B. Interaction of the U1 snRNP with nonconserved intronic sequences affects 5′ splice site selection. Genes Dev. 13, 569-580 (1999).
    • (1999) Genes Dev , vol.13 , pp. 569-580
    • Puig, O.1    Gottschalk, A.2    Fabrizio, P.3    Seraphin, B.4
  • 38
    • 0027516055 scopus 로고
    • Mutational analysis of pre-messenger RNA splicing in Saccharomyces cerevisiae using a sensitive new reporter gene, CUP1
    • Lesser, C.F. & Guthrie, C. Mutational analysis of pre-messenger RNA splicing in Saccharomyces cerevisiae using a sensitive new reporter gene, CUP1. Genetics 133, 851-863 (1993).
    • (1993) Genetics , vol.133 , pp. 851-863
    • Lesser, C.F.1    Guthrie, C.2
  • 39
    • 0029953712 scopus 로고    scopus 로고
    • Green fluorescent protein as a marker for gene expression and subcellular localization in budding yeast
    • Niedenthal, R.K., Riles, L., Johnston, M. & Hegemann, J.H. Green fluorescent protein as a marker for gene expression and subcellular localization in budding yeast. Yeast 12, 773-786 (1996).
    • (1996) Yeast , vol.12 , pp. 773-786
    • Niedenthal, R.K.1    Riles, L.2    Johnston, M.3    Hegemann, J.H.4
  • 40
    • 0027516644 scopus 로고
    • A three-dimensional view of precursor messenger RNA metabolism within the mammalian nucleus
    • Carter, K.C. et al. A three-dimensional view of precursor messenger RNA metabolism within the mammalian nucleus. Science 259, 1330-1335 (1993).
    • (1993) Science , vol.259 , pp. 1330-1335
    • Carter, K.C.1
  • 41
    • 0032125707 scopus 로고    scopus 로고
    • The snoRNA box C/D motif directs nucleolar targeting and also couples snoRNA synthesis and localization
    • Samarsky, D.A., Fournier, M.J., Singer, R.H. & Bertrand, E. The snoRNA box C/D motif directs nucleolar targeting and also couples snoRNA synthesis and localization. EMBO J. 17, 3747-3757 (1998).
    • (1998) EMBO J , vol.17 , pp. 3747-3757
    • Samarsky, D.A.1    Fournier, M.J.2    Singer, R.H.3    Bertrand, E.4
  • 42
    • 0042594424 scopus 로고    scopus 로고
    • A diverse set of nuclear RNAs transfer between nuclei of yeast heterokaryons
    • Olson, B.L. & Siliciano, P.G. A diverse set of nuclear RNAs transfer between nuclei of yeast heterokaryons. Yeast 20, 893-903 (2003).
    • (2003) Yeast , vol.20 , pp. 893-903
    • Olson, B.L.1    Siliciano, P.G.2
  • 44
    • 33746950475 scopus 로고    scopus 로고
    • Yeast Ntr1/Spp382 mediates Prp43 function in postspliceosomes
    • Boon, K.-L. et al. Yeast Ntr1/Spp382 mediates Prp43 function in postspliceosomes. Mol. Cell. Biol. 26, 6016-6023 (2006).
    • (2006) Mol. Cell. Biol , vol.26 , pp. 6016-6023
    • Boon, K.-L.1
  • 45
    • 0041344523 scopus 로고    scopus 로고
    • Mutagenesis suggests several roles of Snu114p in pre-mRNA splicing
    • Bartels, C., Urlaub, H., Lührmann, R. & Fabrizio, P. Mutagenesis suggests several roles of Snu114p in pre-mRNA splicing. J. Biol. Chem. 278, 28324-28334 (2003).
    • (2003) J. Biol. Chem , vol.278 , pp. 28324-28334
    • Bartels, C.1    Urlaub, H.2    Lührmann, R.3    Fabrizio, P.4


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