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Volumn 19, Issue 5, 2010, Pages 825-836

Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs

Author keywords

[No Author keywords available]

Indexed keywords

DYSKERIN; GENE PRODUCT; MICRORNA; PROTEIN NHP2; PROTEIN NOP10; RIBONUCLEOPROTEIN; RIBONUCLEOPROTEIN H ACA; TELOMERASE; UNCLASSIFIED DRUG;

EID: 77950525937     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp551     Document Type: Article
Times cited : (52)

References (70)
  • 1
    • 63149186313 scopus 로고    scopus 로고
    • Advances in the understanding of dyskeratosis congenita
    • Walne, A.J. and Dokal, I. (2009) Advances in the understanding of dyskeratosis congenita. Br. J. Haematol., 145, 164-172.
    • (2009) Br. J. Haematol. , vol.145 , pp. 164-172
    • Walne, A.J.1    Dokal, I.2
  • 2
    • 64249090973 scopus 로고    scopus 로고
    • Dyskeratosis congenita, stem cells and telomeres
    • Kirwan, M. and Dokal, I. (2009) Dyskeratosis congenita, stem cells and telomeres. Biochim. Biophys. Acta, 1792, 371-379.
    • (2009) Biochim. Biophys. Acta , vol.1792 , pp. 371-379
    • Kirwan, M.1    Dokal, I.2
  • 3
    • 36749012920 scopus 로고    scopus 로고
    • Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex
    • Vulliamy, T.J. and Dokal, I. (2008) Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie, 90, 122-130.
    • (2008) Biochimie , vol.90 , pp. 122-130
    • Vulliamy, T.J.1    Dokal, I.2
  • 4
    • 38049019132 scopus 로고    scopus 로고
    • Human diseases of telomerase dysfunction: insights into tissue aging
    • Garcia, C.K., Wright, W.E. and Shay, J.W. (2007) Human diseases of telomerase dysfunction: insights into tissue aging. Nucleic Acids Res., 35, 7406-7416.
    • (2007) Nucleic Acids Res , vol.35 , pp. 7406-7416
    • Garcia, C.K.1    Wright, W.E.2    Shay, J.W.3
  • 5
    • 55749094159 scopus 로고    scopus 로고
    • TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
    • Walne, A.J., Vulliamy, T., Beswick, R., Kirwan, M. and Dokal, I. (2008) TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood, 112, 3594-3600.
    • (2008) Blood , vol.112 , pp. 3594-3600
    • Walne, A.J.1    Vulliamy, T.2    Beswick, R.3    Kirwan, M.4    Dokal, I.5
  • 6
    • 40749085700 scopus 로고    scopus 로고
    • TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
    • Savage, S.A., Giri, N., Baerlocher, G.M., Orr, N., Lansdorp, P.M. and Alter, B.P. (2008) TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am. J. Hum. Genet., 82, 501-509.
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 501-509
    • Savage, S.A.1    Giri, N.2    Baerlocher, G.M.3    Orr, N.4    Lansdorp, P.M.5    Alter, B.P.6
  • 7
    • 46249125488 scopus 로고    scopus 로고
    • How shelterin protects mammalian telomeres
    • Palm, W. and de Lange, T. (2008) How shelterin protects mammalian telomeres. Annu. Rev. Genet., 42, 301-334.
    • (2008) Annu. Rev. Genet. , vol.42 , pp. 301-334
    • Palm, W.1    de Lange, T.2
  • 8
    • 38849191137 scopus 로고    scopus 로고
    • Physiological assembly and activity of human telomerase complexes
    • Collins, K. (2008) Physiological assembly and activity of human telomerase complexes. Mech. Ageing Dev., 129, 91-98.
    • (2008) Mech. Ageing Dev. , vol.129 , pp. 91-98
    • Collins, K.1
  • 9
    • 0032961170 scopus 로고    scopus 로고
    • A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end
    • Mitchell, J.R., Cheng, J. and Collins, K. (1999) A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3′ end. Mol. Cell. Biol., 19, 567-576.
    • (1999) Mol. Cell. Biol. , vol.19 , pp. 567-576
    • Mitchell, J.R.1    Cheng, J.2    Collins, K.3
  • 10
    • 0034598919 scopus 로고    scopus 로고
    • Secondary structure of vertebrate telomerase RNA
    • Chen, J.L., Blasco, M.A. and Greider, C.W. (2000) Secondary structure of vertebrate telomerase RNA. Cell, 100, 503-514.
    • (2000) Cell , vol.100 , pp. 503-514
    • Chen, J.L.1    Blasco, M.A.2    Greider, C.W.3
  • 11
    • 0037082416 scopus 로고    scopus 로고
    • Analysis of the structure of human telomerase RNA in vivo
    • Antal, M., Boros, E., Solymosy, F. and Kiss, T. (2002) Analysis of the structure of human telomerase RNA in vivo. Nucleic Acids Res., 30, 912-920.
    • (2002) Nucleic Acids Res , vol.30 , pp. 912-920
    • Antal, M.1    Boros, E.2    Solymosy, F.3    Kiss, T.4
  • 12
    • 1842813934 scopus 로고    scopus 로고
    • Telomerase RNA structure and function: implications for dyskeratosis congenita
    • Chen, J.L. and Greider, C.W. (2004) Telomerase RNA structure and function: implications for dyskeratosis congenita. Trends Biochem. Sci., 29, 183-192.
    • (2004) Trends Biochem. Sci. , vol.29 , pp. 183-192
    • Chen, J.L.1    Greider, C.W.2
  • 13
    • 33744799697 scopus 로고    scopus 로고
    • Structure and function of telomerase RNA
    • Theimer, C.A. and Feigon, J. (2006) Structure and function of telomerase RNA. Curr. Opin. Struct. Biol., 16, 307-318.
    • (2006) Curr. Opin. Struct. Biol. , vol.16 , pp. 307-318
    • Theimer, C.A.1    Feigon, J.2
  • 15
    • 33847187076 scopus 로고    scopus 로고
    • Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs
    • Matera, A.G., Terns, R.M. and Terns, M.P. (2007) Non-coding RNAs: lessons from the small nuclear and small nucleolar RNAs. Nat. Rev. Mol. Cell Biol., 8, 209-220.
    • (2007) Nat. Rev. Mol. Cell Biol. , vol.8 , pp. 209-220
    • Matera, A.G.1    Terns, R.M.2    Terns, M.P.3
  • 16
    • 34247130376 scopus 로고    scopus 로고
    • The structure and function of small nucleolar ribonucleoproteins
    • Reichow, S.L., Hamma, T., Ferré-D'Amaré, A.R. and Varani, G. (2007) The structure and function of small nucleolar ribonucleoproteins. Nucleic Acids Res., 35, 1452-1464.
    • (2007) Nucleic Acids Res , vol.35 , pp. 1452-1464
    • Reichow, S.L.1    Hamma, T.2    Ferré-D'Amaré, A.R.3    Varani, G.4
  • 17
    • 0030572699 scopus 로고    scopus 로고
    • The RNA world of the nucleolus: two major families of small RNAs defined by different box elements with related functions
    • Balakin, A.G., Smith, L. and Fournier, M.J. (1996) The RNA world of the nucleolus: two major families of small RNAs defined by different box elements with related functions. Cell, 86, 823-834.
    • (1996) Cell , vol.86 , pp. 823-834
    • Balakin, A.G.1    Smith, L.2    Fournier, M.J.3
  • 18
    • 0031003901 scopus 로고    scopus 로고
    • The family of box ACA small nucleolar RNAs is defined by an evolutionarily conserved secondary structure and ubiquitous sequence elements essential for RNA accumulation
    • Ganot, P., Caizergues-Ferrer, M. and Kiss, T. (1997) The family of box ACA small nucleolar RNAs is defined by an evolutionarily conserved secondary structure and ubiquitous sequence elements essential for RNA accumulation. Genes Dev., 11, 941-956.
    • (1997) Genes Dev , vol.11 , pp. 941-956
    • Ganot, P.1    Caizergues-Ferrer, M.2    Kiss, T.3
  • 19
    • 0031799895 scopus 로고    scopus 로고
    • X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    • Heiss, N.S., Knight, S.W., Vulliamy, T.J., Klauck, S.M., Wiemann, S., Mason, P.J., Poustka, A. and Dokal, I. (1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat. Genet., 19, 32-38.
    • (1998) Nat. Genet. , vol.19 , pp. 32-38
    • Heiss, N.S.1    Knight, S.W.2    Vulliamy, T.J.3    Klauck, S.M.4    Wiemann, S.5    Mason, P.J.6    Poustka, A.7    Dokal, I.8
  • 20
    • 34447307404 scopus 로고    scopus 로고
    • Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
    • Walne, A.J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al-Qurashi, F.H., Aljurf, M. and Dokal, I. (2007) Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum. Mol. Genet., 16, 1619-1629.
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 1619-1629
    • Walne, A.J.1    Vulliamy, T.2    Marrone, A.3    Beswick, R.4    Kirwan, M.5    Masunari, Y.6    Al-Qurashi, F.H.7    Aljurf, M.8    Dokal, I.9
  • 21
    • 45849131292 scopus 로고    scopus 로고
    • Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
    • Vulliamy, T., Beswick, R., Kirwan, M., Marrone, A., Digweed, M., Walne, A. and Dokal, I. (2008) Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc. Natl Acad. Sci. USA, 105, 8073-8078.
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 8073-8078
    • Vulliamy, T.1    Beswick, R.2    Kirwan, M.3    Marrone, A.4    Digweed, M.5    Walne, A.6    Dokal, I.7
  • 22
    • 58249116118 scopus 로고    scopus 로고
    • Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP
    • Trahan, C. and Dragon, F. (2009) Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP. RNA, 15, 235-243.
    • (2009) RNA , vol.15 , pp. 235-243
    • Trahan, C.1    Dragon, F.2
  • 23
    • 2442542173 scopus 로고    scopus 로고
    • Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins
    • Wang, C. and Meier, U.T. (2004) Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. EMBO J., 23, 1857-1867.
    • (2004) EMBO J , vol.23 , pp. 1857-1867
    • Wang, C.1    Meier, U.T.2
  • 24
    • 0035253526 scopus 로고    scopus 로고
    • Stable expression in yeast of the mature form of human telomerase RNA depends on its association with the box H/ACA small nucleolar RNP proteins Cbf5p, Nhp2p and Nop10p
    • Dez, C., Henras, A., Faucon, B., Lafontaine, D., Caizergues-Ferrer, M. and Henry, Y. (2001) Stable expression in yeast of the mature form of human telomerase RNA depends on its association with the box H/ACA small nucleolar RNP proteins Cbf5p, Nhp2p and Nop10p. Nucleic Acids Res., 29, 598-603.
    • (2001) Nucleic Acids Res , vol.29 , pp. 598-603
    • Dez, C.1    Henras, A.2    Faucon, B.3    Lafontaine, D.4    Caizergues-Ferrer, M.5    Henry, Y.6
  • 25
    • 36749010238 scopus 로고    scopus 로고
    • Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation
    • Fu, D. and Collins, K. (2007) Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation. Mol. Cell, 28, 773-785.
    • (2007) Mol. Cell , vol.28 , pp. 773-785
    • Fu, D.1    Collins, K.2
  • 26
    • 0034459569 scopus 로고    scopus 로고
    • Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10
    • Pogacic, V., Dragon, F. and Filipowicz, W. (2000) Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. Mol. Cell. Biol., 20, 9028-9040.
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 9028-9040
    • Pogacic, V.1    Dragon, F.2    Filipowicz, W.3
  • 27
    • 20744440616 scopus 로고    scopus 로고
    • The cotranscriptional assembly of snoRNPs controls the biosynthesis of H/ACA snoRNAs in Saccharomyces cerevisiae
    • Ballarino, M., Morlando, M., Pagano, F., Fatica, A. and Bozzoni, I. (2005) The cotranscriptional assembly of snoRNPs controls the biosynthesis of H/ACA snoRNAs in Saccharomyces cerevisiae. Mol. Cell. Biol., 25, 5396-5403.
    • (2005) Mol. Cell. Biol. , vol.25 , pp. 5396-5403
    • Ballarino, M.1    Morlando, M.2    Pagano, F.3    Fatica, A.4    Bozzoni, I.5
  • 28
    • 16244366466 scopus 로고    scopus 로고
    • Cotranscriptional recruitment of the pseudouridylsynthetase Cbf5p and of the RNA binding protein Naf1p during H/ACA snoRNP assembly
    • Yang, P.K., Hoareau, C., Froment, C., Monsarrat, B., Henry, Y. and Chanfreau, G. (2005) Cotranscriptional recruitment of the pseudouridylsynthetase Cbf5p and of the RNA binding protein Naf1p during H/ACA snoRNP assembly. Mol. Cell. Biol., 25, 3295-3304.
    • (2005) Mol. Cell. Biol. , vol.25 , pp. 3295-3304
    • Yang, P.K.1    Hoareau, C.2    Froment, C.3    Monsarrat, B.4    Henry, Y.5    Chanfreau, G.6
  • 29
    • 33646076438 scopus 로고    scopus 로고
    • Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells
    • Darzacq, X., Kittur, N., Roy, S., Shav-Tal, Y., Singer, R.H. and Meier, U.T. (2006) Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells. J. Cell Biol., 173, 207-218.
    • (2006) J. Cell Biol. , vol.173 , pp. 207-218
    • Darzacq, X.1    Kittur, N.2    Roy, S.3    Shav-Tal, Y.4    Singer, R.H.5    Meier, U.T.6
  • 30
    • 33646200076 scopus 로고    scopus 로고
    • hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase
    • Hoareau-Aveilla, C., Bonoli, M., Caizergues-Ferrer, M. and Henry, Y. (2006) hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. RNA, 12, 832-840.
    • (2006) RNA , vol.12 , pp. 832-840
    • Hoareau-Aveilla, C.1    Bonoli, M.2    Caizergues-Ferrer, M.3    Henry, Y.4
  • 31
    • 0036916733 scopus 로고    scopus 로고
    • Naf1p is a box H/ACA snoRNP assembly factor
    • Fatica, A., Dlakic, M. and Tollervey, D. (2002) Naf1p is a box H/ACA snoRNP assembly factor. RNA, 8, 1502-1514.
    • (2002) RNA , vol.8 , pp. 1502-1514
    • Fatica, A.1    Dlakic, M.2    Tollervey, D.3
  • 32
    • 0037159511 scopus 로고    scopus 로고
    • The Shq1p.Naf1p complex is required for box H/ACA small nucleolar ribonucleoprotein particle biogenesis
    • Yang, P.K., Rotondo, G., Porras, T., Legrain, P. and Chanfreau, G. (2002) The Shq1p.Naf1p complex is required for box H/ACA small nucleolar ribonucleoprotein particle biogenesis. J. Biol. Chem., 277, 45235-45242.
    • (2002) J. Biol. Chem. , vol.277 , pp. 45235-45242
    • Yang, P.K.1    Rotondo, G.2    Porras, T.3    Legrain, P.4    Chanfreau, G.5
  • 33
    • 0036786962 scopus 로고    scopus 로고
    • Naf1p, an essential nucleoplasmic factor specifically required for accumulation of box H/ACA small nucleolar RNPs
    • Dez, C., Noaillac-Depeyre, J., Caizergues-Ferrer, M. and Henry, Y. (2002) Naf1p, an essential nucleoplasmic factor specifically required for accumulation of box H/ACA small nucleolar RNPs. Mol. Cell. Biol., 22, 7053-7065.
    • (2002) Mol. Cell. Biol. , vol.22 , pp. 7053-7065
    • Dez, C.1    Noaillac-Depeyre, J.2    Caizergues-Ferrer, M.3    Henry, Y.4
  • 34
    • 0035002944 scopus 로고    scopus 로고
    • Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis
    • Knight, S.W., Vulliamy, T.J., Morgan, B., Devriendt, K., Mason, P.J. and Dokal, I. (2001) Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Hum. Genet., 108, 299-303.
    • (2001) Hum. Genet. , vol.108 , pp. 299-303
    • Knight, S.W.1    Vulliamy, T.J.2    Morgan, B.3    Devriendt, K.4    Mason, P.J.5    Dokal, I.6
  • 37
    • 33645508898 scopus 로고    scopus 로고
    • Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
    • Vulliamy, T.J., Marrone, A., Knight, S.W., Walne, A., Mason, P.J. and Dokal, I. (2006) Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood, 107, 2680-2685.
    • (2006) Blood , vol.107 , pp. 2680-2685
    • Vulliamy, T.J.1    Marrone, A.2    Knight, S.W.3    Walne, A.4    Mason, P.J.5    Dokal, I.6
  • 39
    • 0343183144 scopus 로고    scopus 로고
    • In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs
    • Dragon, F., Pogacic, V. and Filipowicz, W. (2000) In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs. Mol. Cell. Biol., 20, 3037-3048.
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 3037-3048
    • Dragon, F.1    Pogacic, V.2    Filipowicz, W.3
  • 40
    • 0035670851 scopus 로고    scopus 로고
    • The snoRNA domain of vertebrate telomerase RNA functions to localize the RNA within the nucleus
    • Lukowiak, A.A., Narayanan, A., Li, Z.H., Terns, R.M. and Terns, M.P. (2001) The snoRNA domain of vertebrate telomerase RNA functions to localize the RNA within the nucleus. RNA, 7, 1833-1844.
    • (2001) RNA , vol.7 , pp. 1833-1844
    • Lukowiak, A.A.1    Narayanan, A.2    Li, Z.H.3    Terns, R.M.4    Terns, M.P.5
  • 41
    • 0038392866 scopus 로고    scopus 로고
    • Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs
    • Fu, D. and Collins, K. (2003) Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs. Mol. Cell, 11, 1361-1372.
    • (2003) Mol. Cell , vol.11 , pp. 1361-1372
    • Fu, D.1    Collins, K.2
  • 42
    • 17944388104 scopus 로고    scopus 로고
    • Human telomerase RNA and box H/ACA scaRNAs share a common Cajal body-specific localization signal
    • Jady, B.E., Bertrand, E. and Kiss, T. (2004) Human telomerase RNA and box H/ACA scaRNAs share a common Cajal body-specific localization signal. J. Cell Biol., 164, 647-652.
    • (2004) J. Cell Biol. , vol.164 , pp. 647-652
    • Jady, B.E.1    Bertrand, E.2    Kiss, T.3
  • 44
    • 39449115394 scopus 로고    scopus 로고
    • I-TASSER server for protein 3D structure prediction
    • Zhang, Y. (2008) I-TASSER server for protein 3D structure prediction. BMC Bioinformatics, 9, 40.
    • (2008) BMC Bioinformatics , vol.9 , pp. 40
    • Zhang, Y.1
  • 45
    • 36749061828 scopus 로고    scopus 로고
    • Template-based modeling and free modeling by I-TASSER in CASP7
    • Zhang, Y. (2007) Template-based modeling and free modeling by I-TASSER in CASP7. Proteins, 69 (Suppl. 8), 108-117.
    • (2007) Proteins , vol.69 , Issue.SUPPL. 8 , pp. 108-117
    • Zhang, Y.1
  • 46
    • 34249869832 scopus 로고    scopus 로고
    • Ab initio modeling of small proteins by iterative TASSER simulations
    • Wu, S., Skolnick, J. and Zhang, Y. (2007) Ab initio modeling of small proteins by iterative TASSER simulations. BMC Biol., 5, 17.
    • (2007) BMC Biol , vol.5 , pp. 17
    • Wu, S.1    Skolnick, J.2    Zhang, Y.3
  • 47
    • 33748947672 scopus 로고    scopus 로고
    • Crystal structure of an H/ACA box ribonucleoprotein particle
    • Li, L. and Ye, K. (2006) Crystal structure of an H/ACA box ribonucleoprotein particle. Nature, 443, 302-307.
    • (2006) Nature , vol.443 , pp. 302-307
    • Li, L.1    Ye, K.2
  • 48
    • 28544449371 scopus 로고    scopus 로고
    • The Cbf5-Nop10 complex is a molecular bracket that organizes box H/ACA RNPs
    • Hamma, T., Reichow, S.L., Varani, G. and Ferré-D'Amaré, A.R. (2005) The Cbf5-Nop10 complex is a molecular bracket that organizes box H/ACA RNPs. Nat. Struct. Mol. Biol., 12, 1101-1107.
    • (2005) Nat. Struct. Mol. Biol. , vol.12 , pp. 1101-1107
    • Hamma, T.1    Reichow, S.L.2    Varani, G.3    Ferré-D'Amaré, A.R.4
  • 49
    • 38949159206 scopus 로고    scopus 로고
    • Determination of protein-RNA interaction sites in the Cbf5-H/ACA guide RNA complex by mass spectrometric protein footprinting
    • Baker, D.L., Seyfried, N.T., Li, H., Orlando, R., Terns, R.M. and Terns, M.P. (2008) Determination of protein-RNA interaction sites in the Cbf5-H/ACA guide RNA complex by mass spectrometric protein footprinting. Biochemistry, 47, 1500-1510.
    • (2008) Biochemistry , vol.47 , pp. 1500-1510
    • Baker, D.L.1    Seyfried, N.T.2    Li, H.3    Orlando, R.4    Terns, R.M.5    Terns, M.P.6
  • 50
    • 33749247285 scopus 로고    scopus 로고
    • Analysis of the binding of the N-terminal conserved domain of yeast Cbf5p to a box H/ACA snoRNA
    • Normand, C., Capeyrou, R., Quevillon-Cheruel, S., Mougin, A., Henry, Y. and Caizergues-Ferrer, M. (2006) Analysis of the binding of the N-terminal conserved domain of yeast Cbf5p to a box H/ACA snoRNA. RNA, 12, 1868-1882.
    • (2006) RNA , vol.12 , pp. 1868-1882
    • Normand, C.1    Capeyrou, R.2    Quevillon-Cheruel, S.3    Mougin, A.4    Henry, Y.5    Caizergues-Ferrer, M.6
  • 51
    • 3242656131 scopus 로고    scopus 로고
    • Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing
    • Mochizuki, Y., He, J., Kulkarni, S., Bessler, M. and Mason, P.J. (2004) Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc. Natl Acad. Sci. USA, 101, 10756-10761.
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 10756-10761
    • Mochizuki, Y.1    He, J.2    Kulkarni, S.3    Bessler, M.4    Mason, P.J.5
  • 52
    • 30744445688 scopus 로고    scopus 로고
    • Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita
    • Rashid, R., Liang, B., Baker, D.L., Youssef, O.A., He, Y., Phipps, K., Terns, R.M., Terns, M.P. and Li, H. (2006) Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita. Mol. Cell, 21, 249-260.
    • (2006) Mol. Cell , vol.21 , pp. 249-260
    • Rashid, R.1    Liang, B.2    Baker, D.L.3    Youssef, O.A.4    He, Y.5    Phipps, K.6    Terns, R.M.7    Terns, M.P.8    Li, H.9
  • 53
    • 44949173192 scopus 로고    scopus 로고
    • Nop10 is a conserved H/ACA snoRNP molecular adaptor
    • Reichow, S.L. and Varani, G. (2008) Nop10 is a conserved H/ACA snoRNP molecular adaptor. Biochemistry, 47, 6148-6156.
    • (2008) Biochemistry , vol.47 , pp. 6148-6156
    • Reichow, S.L.1    Varani, G.2
  • 54
    • 0037324527 scopus 로고    scopus 로고
    • Binding of L7Ae protein to the K-turn of archaeal snoRNAs: a shared RNA binding motif for C/D and H/ACA box snoRNAs in Archaea
    • Rozhdestvensky, T.S., Tang, T.H., Tchirkova, I.V., Brosius, J., Bachellerie, J.P. and Hüttenhofer, A. (2003) Binding of L7Ae protein to the K-turn of archaeal snoRNAs: a shared RNA binding motif for C/D and H/ACA box snoRNAs in Archaea. Nucleic Acids Res., 31, 869-877.
    • (2003) Nucleic Acids Res , vol.31 , pp. 869-877
    • Rozhdestvensky, T.S.1    Tang, T.H.2    Tchirkova, I.V.3    Brosius, J.4    Bachellerie, J.P.5    Hüttenhofer, A.6
  • 55
    • 2342638215 scopus 로고    scopus 로고
    • Structure of protein L7Ae bound to a K-turn derived from an archaeal box H/ACA sRNA at 1.8 A resolution
    • Hamma, T. and Ferré-D'Amaré, A.R. (2004) Structure of protein L7Ae bound to a K-turn derived from an archaeal box H/ACA sRNA at 1.8 A resolution. Structure, 12, 893-903.
    • (2004) Structure , vol.12 , pp. 893-903
    • Hamma, T.1    Ferré-D'Amaré, A.R.2
  • 56
    • 34748845108 scopus 로고    scopus 로고
    • Structural and functional characterization of human telomerase RNA processing and cajal body localization signals
    • Theimer, C.A., Jady, B.E., Chim, N., Richard, P., Breece, K.E., Kiss, T. and Feigon, J. (2007) Structural and functional characterization of human telomerase RNA processing and cajal body localization signals. Mol. Cell, 27, 869-881.
    • (2007) Mol. Cell , vol.27 , pp. 869-881
    • Theimer, C.A.1    Jady, B.E.2    Chim, N.3    Richard, P.4    Breece, K.E.5    Kiss, T.6    Feigon, J.7
  • 58
  • 59
    • 0037292453 scopus 로고    scopus 로고
    • Ribosome structure and activity are altered in cells lacking snoRNPs that form pseudouridines in the peptidyl transferase center
    • King, T.H., Liu, B., McCully, R.R. and Fournier, M.J. (2003) Ribosome structure and activity are altered in cells lacking snoRNPs that form pseudouridines in the peptidyl transferase center. Mol. Cell, 11, 425-435.
    • (2003) Mol. Cell , vol.11 , pp. 425-435
    • King, T.H.1    Liu, B.2    McCully, R.R.3    Fournier, M.J.4
  • 60
    • 69049089806 scopus 로고    scopus 로고
    • Loss of rRNA modifications in the decoding center of the ribosome impairs translation and strongly delays pre-rRNA processing
    • Liang, X.H., Liu, Q. and Fournier, M.J. (2009) Loss of rRNA modifications in the decoding center of the ribosome impairs translation and strongly delays pre-rRNA processing. RNA, 5, 1716-1728.
    • (2009) RNA , vol.5 , pp. 1716-1728
    • Liang, X.H.1    Liu, Q.2    Fournier, M.J.3
  • 61
    • 69949156469 scopus 로고    scopus 로고
    • Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations
    • Gu, B.W., Zhao, C., Fan, J.M., Dai, Q., Bessler, M. and Mason, P.J. (2009) Anomalous electrophoretic migration of newly synthesized ribosomal RNAs and their precursors from cells with DKC1 mutations. FEBS Lett., 583, 3086-3090.
    • (2009) FEBS Lett. , vol.583 , pp. 3086-3090
    • Gu, B.W.1    Zhao, C.2    Fan, J.M.3    Dai, Q.4    Bessler, M.5    Mason, P.J.6
  • 63
    • 0032189145 scopus 로고    scopus 로고
    • Modifications of U2 snRNA are required for snRNP assembly and pre-mRNA splicing
    • Yu, Y.T., Shu, M.D. and Steitz, J.A. (1998) Modifications of U2 snRNA are required for snRNP assembly and pre-mRNA splicing. EMBO J., 17, 5783-5795.
    • (1998) EMBO J , vol.17 , pp. 5783-5795
    • Yu, Y.T.1    Shu, M.D.2    Steitz, J.A.3
  • 64
    • 1642447085 scopus 로고    scopus 로고
    • Pseudouridines in and near the branch site recognition region of U2 snRNA are required for snRNP biogenesis and pre-mRNA splicing in Xenopus oocytes
    • Zhao, X. and Yu, Y.T. (2004) Pseudouridines in and near the branch site recognition region of U2 snRNA are required for snRNP biogenesis and pre-mRNA splicing in Xenopus oocytes. RNA, 10, 681-690.
    • (2004) RNA , vol.10 , pp. 681-690
    • Zhao, X.1    Yu, Y.T.2
  • 65
    • 48249112529 scopus 로고    scopus 로고
    • A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice
    • Gu, B.W., Bessler, M. and Mason, P.J. (2008) A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice. Proc. Natl Acad. Sci. USA, 105, 10173-10178.
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 10173-10178
    • Gu, B.W.1    Bessler, M.2    Mason, P.J.3
  • 66
    • 0036849291 scopus 로고    scopus 로고
    • A Cajal body-specific pseudouridylation guide RNA is composed of two box H/ACA snoRNA-like domains
    • Kiss, A.M., Jady, B.E., Darzacq, X., Verheggen, C., Bertrand, E. and Kiss, T. (2002) A Cajal body-specific pseudouridylation guide RNA is composed of two box H/ACA snoRNA-like domains. Nucleic Acids Res., 30, 4643-4649.
    • (2002) Nucleic Acids Res. , vol.30 , pp. 4643-4649
    • Kiss, A.M.1    Jady, B.E.2    Darzacq, X.3    Verheggen, C.4    Bertrand, E.5    Kiss, T.6
  • 67
    • 33644875300 scopus 로고    scopus 로고
    • snoRNA-LBME-db, a comprehensive database of human H/ACA and C/D box snoRNAs
    • Lestrade, L. and Weber, M.J. (2006) snoRNA-LBME-db, a comprehensive database of human H/ACA and C/D box snoRNAs. Nucleic Acids Res., 34, D158-D162.
    • (2006) Nucleic Acids Res. , vol.34
    • Lestrade, L.1    Weber, M.J.2
  • 68
    • 2942718696 scopus 로고    scopus 로고
    • Human box H/ACA pseudouridylation guide RNA machinery
    • Kiss, A.M., Jady, B.E., Bertrand, E. and Kiss, T. (2004) Human box H/ACA pseudouridylation guide RNA machinery. Mol. Cell. Biol., 24, 5797-5807.
    • (2004) Mol. Cell. Biol. , vol.24 , pp. 5797-5807
    • Kiss, A.M.1    Jady, B.E.2    Bertrand, E.3    Kiss, T.4
  • 69
    • 0023684064 scopus 로고
    • A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions
    • Higuchi, R., Krummel, B. and Saiki, R.K. (1988) A general method of in vitro preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions. Nucleic Acids Res., 16, 7351-7367.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 7351-7367
    • Higuchi, R.1    Krummel, B.2    Saiki, R.K.3
  • 70
    • 14644430471 scopus 로고    scopus 로고
    • ProbCons: Probabilistic consistency-based multiple sequence alignment
    • Do, C.B., Mahabhashyam, M.S., Brudno, M. and Batzoglou, S. (2005) ProbCons: Probabilistic consistency-based multiple sequence alignment. Genome Res., 15, 330-340.
    • (2005) Genome Res. , vol.15 , pp. 330-340
    • Do, C.B.1    Mahabhashyam, M.S.2    Brudno, M.3    Batzoglou, S.4


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