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Volumn 19, Issue R1, 2010, Pages

Partners in crime: Bidirectional transcription in unstable microsatellite disease

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIN 8; BIOLOGICAL MARKER; COMPLEMENTARY RNA; FRAGILE X MENTAL RETARDATION PROTEIN; HUNTINGTON DISEASE LIKE 2 PROTEIN; POLYGLUTAMINE; UNCLASSIFIED DRUG;

EID: 77953887860     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq132     Document Type: Article
Times cited : (88)

References (51)
  • 1
    • 34250878426 scopus 로고    scopus 로고
    • Expandable DNA repeats and human disease
    • Mirkin, S.M. (2007) Expandable DNA repeats and human disease. Nature, 447, 932-940.
    • (2007) Nature , vol.447 , pp. 932-940
    • Mirkin, S.M.1
  • 2
    • 77649144557 scopus 로고    scopus 로고
    • Repeat instability as the basis for human diseases and as a potential target for therapy
    • Lopez Castel, A., Cleary, J.D. and Pearson, C.E. (2010) Repeat instability as the basis for human diseases and as a potential target for therapy. Nat. Rev. Mol. Cell. Biol., 11, 165-170.
    • (2010) Nat. Rev. Mol. Cell. Biol. , vol.11 , pp. 165-170
    • Lopez Castel, A.1    Cleary, J.D.2    Pearson, C.E.3
  • 3
    • 34547692622 scopus 로고    scopus 로고
    • Trinucleotide repeat disorders
    • Orr, H.T. and Zoghbi, H.Y. (2007) Trinucleotide repeat disorders. Ann. Rev. Neurosci., 30, 575-621.
    • (2007) Ann. Rev. Neurosci. , vol.30 , pp. 575-621
    • Orr, H.T.1    Zoghbi, H.Y.2
  • 4
    • 59849089676 scopus 로고    scopus 로고
    • Microsatellite repeat instability and neurological disease
    • Brouwer, J.R., Willemsen, R. and Oostra, B.A. (2009) Microsatellite repeat instability and neurological disease. Bioessays, 31, 71-83.
    • (2009) Bioessays , vol.31 , pp. 71-83
    • Brouwer, J.R.1    Willemsen, R.2    Oostra, B.A.3
  • 5
    • 67349104211 scopus 로고    scopus 로고
    • Molecular mechanisms underlying polyalanine diseases
    • Messaed, C. and Rouleau, G.A. (2009) Molecular mechanisms underlying polyalanine diseases. Neurobiol. Dis., 34, 397-405.
    • (2009) Neurobiol. Dis. , vol.34 , pp. 397-405
    • Messaed, C.1    Rouleau, G.A.2
  • 7
    • 45149107487 scopus 로고    scopus 로고
    • Mechanisms of neurodegeneration in Huntington's disease
    • Gil, J.M. and Rego, A.C. (2008) Mechanisms of neurodegeneration in Huntington's disease. Eur. J. Neurosci., 27, 2803-2820.
    • (2008) Eur. J. Neurosci. , vol.27 , pp. 2803-2820
    • Gil, J.M.1    Rego, A.C.2
  • 8
    • 65549101751 scopus 로고    scopus 로고
    • Chromatin remodeling in the noncoding repeat expansion diseases
    • Kumari, D. and Usdin, K. (2009) Chromatin remodeling in the noncoding repeat expansion diseases. J. Biol. Chem., 284, 7413-7417.
    • (2009) J. Biol. Chem. , vol.284 , pp. 7413-7417
    • Kumari, D.1    Usdin, K.2
  • 9
    • 65549134765 scopus 로고    scopus 로고
    • Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1
    • Zoghbi, H.Y. and Orr, H.T. (2009) Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J. Biol. Chem., 284, 7425-7429.
    • (2009) J. Biol. Chem. , vol.284 , pp. 7425-7429
    • Zoghbi, H.Y.1    Orr, H.T.2
  • 11
    • 71549143207 scopus 로고    scopus 로고
    • Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin
    • Okamoto, S., Pouladi, M.A., Talantova, M., Yao, D., Xia, P., Ehrnhoefer, D.E., Zaidi, R., Clemente, A., Kaul, M., Graham, R.K. et al. (2009) Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin. Nat. Med., 15, 1407-1413.
    • (2009) Nat. Med. , vol.15 , pp. 1407-1413
    • Okamoto, S.1    Pouladi, M.A.2    Talantova, M.3    Yao, D.4    Xia, P.5    Ehrnhoefer, D.E.6    Zaidi, R.7    Clemente, A.8    Kaul, M.9    Graham, R.K.10
  • 12
    • 60149093432 scopus 로고    scopus 로고
    • RNA and disease
    • Cooper, T.A., Wan, L. and Dreyfuss, G. (2009) RNA and disease. Cell, 136, 777-793.
    • (2009) Cell , vol.136 , pp. 777-793
    • Cooper, T.A.1    Wan, L.2    Dreyfuss, G.3
  • 13
    • 65549105556 scopus 로고    scopus 로고
    • Mechanisms of RNA-mediated disease
    • O'Rourke, J.R. and Swanson, M.S. (2009) Mechanisms of RNA-mediated disease. J. Biol. Chem., 284, 7419-7423.
    • (2009) J. Biol. Chem. , vol.284 , pp. 7419-7423
    • O'Rourke, J.R.1    Swanson, M.S.2
  • 15
    • 69249217649 scopus 로고    scopus 로고
    • Regulatory roles of natural antisense transcripts
    • Faghihi, M.A. and Wahlestedt, C. (2009) Regulatory roles of natural antisense transcripts. Nat. Rev. Mol. Cell. Biol., 10, 637-643.
    • (2009) Nat. Rev. Mol. Cell. Biol. , vol.10 , pp. 637-643
    • Faghihi, M.A.1    Wahlestedt, C.2
  • 17
    • 27644525713 scopus 로고    scopus 로고
    • Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF
    • Cho, D.H., Thienes, C.P., Mahoney, S.E., Analau, E., Filippova, G.N. and Tapscott, S.J. (2005) Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol. Cell, 20, 483-489.
    • (2005) Mol. Cell , vol.20 , pp. 483-489
    • Cho, D.H.1    Thienes, C.P.2    Mahoney, S.E.3    Analau, E.4    Filippova, G.N.5    Tapscott, S.J.6
  • 18
  • 20
    • 67649983121 scopus 로고    scopus 로고
    • Instability and chromatin structure of expanded trinucleotide repeats
    • Dion, V. and Wilson, J.H. (2009) Instability and chromatin structure of expanded trinucleotide repeats. Trends Genet., 25, 288-297.
    • (2009) Trends Genet. , vol.25 , pp. 288-297
    • Dion, V.1    Wilson, J.H.2
  • 22
    • 33751536642 scopus 로고    scopus 로고
    • Genome-wide natural antisense transcription: coupling its regulation to its different regulatory mechanisms
    • Lapidot, M. and Pilpel, Y. (2006) Genome-wide natural antisense transcription: coupling its regulation to its different regulatory mechanisms. EMBO Rep., 7, 1216-1222.
    • (2006) EMBO Rep. , vol.7 , pp. 1216-1222
    • Lapidot, M.1    Pilpel, Y.2
  • 23
    • 57149110631 scopus 로고    scopus 로고
    • Bidirectional transcription directs both transcriptional gene activation and suppression in human cells
    • Morris, K.V., Santoso, S., Turner, A.M., Pastori, C. and Hawkins, P.G. (2008) Bidirectional transcription directs both transcriptional gene activation and suppression in human cells. PLoS Genet., 4, e1000258.
    • (2008) PLoS Genet. , vol.4
    • Morris, K.V.1    Santoso, S.2    Turner, A.M.3    Pastori, C.4    Hawkins, P.G.5
  • 24
    • 0027941198 scopus 로고
    • Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene
    • Wang, Y.H., Amirhaeri, S., Kang, S., Wells, R.D. and Griffith, J.D. (1994) Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science, 265, 669-671.
    • (1994) Science , vol.265 , pp. 669-671
    • Wang, Y.H.1    Amirhaeri, S.2    Kang, S.3    Wells, R.D.4    Griffith, J.D.5
  • 25
    • 0029059218 scopus 로고
    • Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure
    • Otten, A.D. and Tapscott, S.J. (1995) Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc. Natl Acad. Sci. USA, 92, 5465-5469.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 5465-5469
    • Otten, A.D.1    Tapscott, S.J.2
  • 26
    • 0030845879 scopus 로고    scopus 로고
    • Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
    • Klesert, T.R., Otten, A.D., Bird, T.D. and Tapscott, S.J. (1997) Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat. Genet., 16, 402-406.
    • (1997) Nat. Genet. , vol.16 , pp. 402-406
    • Klesert, T.R.1    Otten, A.D.2    Bird, T.D.3    Tapscott, S.J.4
  • 27
    • 0030861573 scopus 로고    scopus 로고
    • Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
    • Thornton, C.A., Wymer, J.P., Simmons, Z., McClain, C. and Moxley, R.T. 3rd (1997) Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat. Genet., 16, 407-409.
    • (1997) Nat. Genet. , vol.16 , pp. 407-409
    • Thornton, C.A.1    Wymer, J.P.2    Simmons, Z.3    McClain, C.4    Moxley R.T. 3rd5
  • 29
    • 2342494856 scopus 로고    scopus 로고
    • Toxic RNA in the nucleus: unstable microsatellite expression in neuromuscular disease
    • Nykamp, K.R. and Swanson, M.S. (2004) Toxic RNA in the nucleus: unstable microsatellite expression in neuromuscular disease. Prog. Mol. Subcell. Biol., 35, 57-77.
    • (2004) Prog. Mol. Subcell. Biol. , vol.35 , pp. 57-77
    • Nykamp, K.R.1    Swanson, M.S.2
  • 30
    • 1542380523 scopus 로고    scopus 로고
    • The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila
    • Mutsuddi, M., Marshall, C.M., Benzow, K.A., Koob, M.D. and Rebay, I. (2004) The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila. Curr. Biol., 14, 302-308.
    • (2004) Curr. Biol. , vol.14 , pp. 302-308
    • Mutsuddi, M.1    Marshall, C.M.2    Benzow, K.A.3    Koob, M.D.4    Rebay, I.5
  • 32
    • 0034110465 scopus 로고    scopus 로고
    • Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila
    • Marsh, J.L., Walker, H., Theisen, H., Zhu, Y.Z., Fielder, T., Purcell, J. and Thompson, L.M. (2000) Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila. Hum. Mol. Genet., 9, 13-25.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 13-25
    • Marsh, J.L.1    Walker, H.2    Theisen, H.3    Zhu, Y.Z.4    Fielder, T.5    Purcell, J.6    Thompson, L.M.7
  • 33
    • 0034640938 scopus 로고    scopus 로고
    • The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)
    • Nemes, J.P., Benzow, K.A., Moseley, M.L., Ranum, L.P. and Koob, M.D. (2000) The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). Hum. Mol. Genet., 9, 1543-1551.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1543-1551
    • Nemes, J.P.1    Benzow, K.A.2    Moseley, M.L.3    Ranum, L.P.4    Koob, M.D.5
  • 34
    • 0033816249 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 8 clinical features in a large family
    • Day, J.W., Schut, L.J., Moseley, M.L., Durand, A.C. and Ranum, L.P. (2000) Spinocerebellar ataxia type 8: clinical features in a large family. Neurology, 55, 649-657.
    • (2000) Neurology , vol.55 , pp. 649-657
    • Day, J.W.1    Schut, L.J.2    Moseley, M.L.3    Durand, A.C.4    Ranum, L.P.5
  • 35
    • 0034007097 scopus 로고    scopus 로고
    • Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia
    • Worth, P.F., Houlden, H., Giunti, P., Davis, M.B. and Wood, N.W. (2000) Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat. Genet., 24, 214-215.
    • (2000) Nat. Genet. , vol.24 , pp. 214-215
    • Worth, P.F.1    Houlden, H.2    Giunti, P.3    Davis, M.B.4    Wood, N.W.5
  • 36
    • 61449238441 scopus 로고    scopus 로고
    • Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes
    • Ikeda, Y., Daughters, R.S. and Ranum, L.P. (2008) Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum, 7, 150-158.
    • (2008) Cerebellum , vol.7 , pp. 150-158
    • Ikeda, Y.1    Daughters, R.S.2    Ranum, L.P.3
  • 37
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk, A.J., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F.P. et al. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6    Reiner, O.7    Richards, S.8    Victoria, M.F.9    Zhang, F.P.10
  • 38
    • 0141994818 scopus 로고    scopus 로고
    • A fragile balance: FMR1 expression levels
    • (Spec No 2)
    • Oostra, B.A. and Willemsen, R. (2003) A fragile balance: FMR1 expression levels. Hum. Mol. Genet., 12 (Spec No 2), R249-R257.
    • (2003) Hum. Mol. Genet. , vol.12
    • Oostra, B.A.1    Willemsen, R.2
  • 42
    • 0141557777 scopus 로고    scopus 로고
    • Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse
    • Khalili, K., Del Valle, L., Muralidharan, V., Gault, W.J., Darbinian, N., Otte, J., Meier, E., Johnson, E.M., Daniel, D.C., Kinoshita, Y. et al. (2003) Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. Mol. Cell. Biol., 23, 6857-6875.
    • (2003) Mol. Cell. Biol. , vol.23 , pp. 6857-6875
    • Khalili, K.1    Del Valle, L.2    Muralidharan, V.3    Gault, W.J.4    Darbinian, N.5    Otte, J.6    Meier, E.7    Johnson, E.M.8    Daniel, D.C.9    Kinoshita, Y.10
  • 43
    • 34547681603 scopus 로고    scopus 로고
    • Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome
    • Jin, P., Duan, R., Qurashi, A., Qin, Y., Tian, D., Rosser, T.C., Liu, H., Feng, Y. and Warren, S.T. (2007) Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron, 55, 556-564.
    • (2007) Neuron , vol.55 , pp. 556-564
    • Jin, P.1    Duan, R.2    Qurashi, A.3    Qin, Y.4    Tian, D.5    Rosser, T.C.6    Liu, H.7    Feng, Y.8    Warren, S.T.9
  • 44
    • 34547697173 scopus 로고    scopus 로고
    • RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS
    • Sofola, O.A., Jin, P., Qin, Y., Duan, R., Liu, H., de Haro, M., Nelson, D.L. and Botas, J. (2007) RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron, 55, 565-571.
    • (2007) Neuron , vol.55 , pp. 565-571
    • Sofola, O.A.1    Jin, P.2    Qin, Y.3    Duan, R.4    Liu, H.5    de Haro, H.6    Nelson, M.7    Botas, J.D.8
  • 46
    • 76449105593 scopus 로고    scopus 로고
    • Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation
    • Wenzel, H.J., Hunsaker, M.R., Greco, C.M., Willemsen, R. and Berman, R.F. Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation. Brain Res., 1318, 155-166.
    • (2010) Brain Res. , vol.1318 , pp. 155-166
    • Wenzel, H.J.1    Hunsaker, M.R.2    Greco, C.M.3    Willemsen, R.4    Berman, R.F.5
  • 48
    • 44949246486 scopus 로고    scopus 로고
    • A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome
    • Khalil, A.M., Faghihi, M.A., Modarresi, F., Brothers, S.P. and Wahlestedt, C. (2008) A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome. PLoS One, 3, e1486.
    • (2008) PLoS One , vol.3
    • Khalil, A.M.1    Faghihi, M.A.2    Modarresi, F.3    Brothers, S.P.4    Wahlestedt, C.5


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