메뉴 건너뛰기




Volumn 466, Issue 2, 2009, Pages 103-108

RNA-mediated pathogenesis in fragile X-associated disorders

Author keywords

FMR1; Fragile X syndrome; FXTAS; Noncoding RNAs

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; MICRORNA; UNTRANSLATED RNA;

EID: 70350117848     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2009.07.053     Document Type: Review
Times cited : (15)

References (66)
  • 1
    • 28744442194 scopus 로고    scopus 로고
    • Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells
    • Arocena D.G., Iwahashi C.K., Won N., Beilina A., Ludwig A.L., Tassone F., Schwartz P.H., and Hagerman P.J. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum. Mol. Genet. 14 (2005) 3661-3671
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 3661-3671
    • Arocena, D.G.1    Iwahashi, C.K.2    Won, N.3    Beilina, A.4    Ludwig, A.L.5    Tassone, F.6    Schwartz, P.H.7    Hagerman, P.J.8
  • 2
    • 0027377580 scopus 로고
    • FMR1 protein: conserved RNP family domains and selective RNA binding
    • Ashley Jr. C.T., Wilkinson K.D., Reines D., and Warren S.T. FMR1 protein: conserved RNP family domains and selective RNA binding. Science 262 (1993) 563-566
    • (1993) Science , vol.262 , pp. 563-566
    • Ashley Jr., C.T.1    Wilkinson, K.D.2    Reines, D.3    Warren, S.T.4
  • 5
    • 0347444723 scopus 로고    scopus 로고
    • MicroRNAs: genomics, biogenesis, mechanism, and function
    • Bartel D.P. MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 116 (2004) 281-297
    • (2004) Cell , vol.116 , pp. 281-297
    • Bartel, D.P.1
  • 6
    • 53849110899 scopus 로고    scopus 로고
    • Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function
    • Bassell G.J., and Warren S.T. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 60 (2008) 201-214
    • (2008) Neuron , vol.60 , pp. 201-214
    • Bassell, G.J.1    Warren, S.T.2
  • 8
    • 0036792769 scopus 로고    scopus 로고
    • Fragile X-related protein and VIG associate with the RNA interference machinery
    • Caudy A.A., Myers M., Hannon G.J., and Hammond S.M. Fragile X-related protein and VIG associate with the RNA interference machinery. Genes Dev. 16 (2002) 2491-2496
    • (2002) Genes Dev. , vol.16 , pp. 2491-2496
    • Caudy, A.A.1    Myers, M.2    Hannon, G.J.3    Hammond, S.M.4
  • 9
    • 60849094795 scopus 로고    scopus 로고
    • Phosphorylation of FMRP inhibits association with Dicer
    • Cheever A., and Ceman S. Phosphorylation of FMRP inhibits association with Dicer. RNA 15 (2009) 362-366
    • (2009) RNA , vol.15 , pp. 362-366
    • Cheever, A.1    Ceman, S.2
  • 10
    • 66349104309 scopus 로고    scopus 로고
    • Translation regulation of mRNAs by the fragile X family of proteins through the microRNA pathway
    • Cheever A., and Ceman S. Translation regulation of mRNAs by the fragile X family of proteins through the microRNA pathway. RNA Biol. 6 (2009)
    • (2009) RNA Biol. , vol.6
    • Cheever, A.1    Ceman, S.2
  • 12
    • 17444384228 scopus 로고    scopus 로고
    • Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes
    • Darnell J.C., Fraser C.E., Mostovetsky O., Stefani G., Jones T.A., Eddy S.R., and Darnell R.B. Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes. Genes Dev. 19 (2005) 903-918
    • (2005) Genes Dev. , vol.19 , pp. 903-918
    • Darnell, J.C.1    Fraser, C.E.2    Mostovetsky, O.3    Stefani, G.4    Jones, T.A.5    Eddy, S.R.6    Darnell, R.B.7
  • 13
    • 0035900649 scopus 로고    scopus 로고
    • Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function
    • Darnell J.C., Jensen K.B., Jin P., Brown V., Warren S.T., and Darnell R.B. Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell 107 (2001) 489-499
    • (2001) Cell , vol.107 , pp. 489-499
    • Darnell, J.C.1    Jensen, K.B.2    Jin, P.3    Brown, V.4    Warren, S.T.5    Darnell, R.B.6
  • 15
    • 0037084852 scopus 로고    scopus 로고
    • Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
    • Dombrowski C., Levesque S., Morel M.L., Rouillard P., Morgan K., and Rousseau F. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum. Mol. Genet. 11 (2002) 371-378
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 371-378
    • Dombrowski, C.1    Levesque, S.2    Morel, M.L.3    Rouillard, P.4    Morgan, K.5    Rousseau, F.6
  • 16
    • 0031310667 scopus 로고    scopus 로고
    • FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association
    • Feng Y., Absher D., Eberhart D.E., Brown V., Malter H.E., and Warren S.T. FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. Mol. Cell. 1 (1997) 109-118
    • (1997) Mol. Cell. , vol.1 , pp. 109-118
    • Feng, Y.1    Absher, D.2    Eberhart, D.E.3    Brown, V.4    Malter, H.E.5    Warren, S.T.6
  • 17
    • 0031046778 scopus 로고    scopus 로고
    • Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes
    • Feng Y., Gutekunst C.A., Eberhart D.E., Yi H., Warren S.T., and Hersch S.M. Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes. J. Neurosci. 17 (1997) 1539-1547
    • (1997) J. Neurosci. , vol.17 , pp. 1539-1547
    • Feng, Y.1    Gutekunst, C.A.2    Eberhart, D.E.3    Yi, H.4    Warren, S.T.5    Hersch, S.M.6
  • 24
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-X premutation: a maturing perspective
    • Hagerman P.J., and Hagerman R.J. The fragile-X premutation: a maturing perspective. Am. J. Hum. Genet. 74 (2004) 805-816
    • (2004) Am. J. Hum. Genet. , vol.74 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 28
    • 0036791671 scopus 로고    scopus 로고
    • A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins
    • Ishizuka A., Siomi M.C., and Siomi H. A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins. Genes Dev. 16 (2002) 2497-2508
    • (2002) Genes Dev. , vol.16 , pp. 2497-2508
    • Ishizuka, A.1    Siomi, M.C.2    Siomi, H.3
  • 31
    • 7944232720 scopus 로고    scopus 로고
    • RNA and microRNAs in fragile X mental retardation
    • Jin P., Alisch R.S., and Warren S.T. RNA and microRNAs in fragile X mental retardation. Nat. Cell. Biol. 6 (2004) 1048-1053
    • (2004) Nat. Cell. Biol. , vol.6 , pp. 1048-1053
    • Jin, P.1    Alisch, R.S.2    Warren, S.T.3
  • 32
    • 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. Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 55 (2007) 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
  • 34
    • 0041880131 scopus 로고    scopus 로고
    • RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
    • Jin P., Zarnescu D.C., Zhang F., Pearson C.E., Lucchesi J.C., Moses K., and Warren S.T. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39 (2003) 739-747
    • (2003) Neuron , vol.39 , pp. 739-747
    • Jin, P.1    Zarnescu, D.C.2    Zhang, F.3    Pearson, C.E.4    Lucchesi, J.C.5    Moses, K.6    Warren, S.T.7
  • 36
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • Kenneson A., Zhang F., Hagedorn C.H., and Warren S.T. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet. 10 (2001) 1449-1454
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 38
    • 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. A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome. PLoS One 3 (2008) e1486
    • (2008) PLoS One , vol.3
    • Khalil, A.M.1    Faghihi, M.A.2    Modarresi, F.3    Brothers, S.P.4    Wahlestedt, C.5
  • 43
    • 0035368955 scopus 로고    scopus 로고
    • The fragile X mental retardation protein inhibits translation via interacting with mRNA
    • Li Z., Zhang Y., Ku L., Wilkinson K.D., Warren S.T., and Feng Y. The fragile X mental retardation protein inhibits translation via interacting with mRNA. Nucleic Acids Res. 29 (2001) 2276-2283
    • (2001) Nucleic Acids Res. , vol.29 , pp. 2276-2283
    • Li, Z.1    Zhang, Y.2    Ku, L.3    Wilkinson, K.D.4    Warren, S.T.5    Feng, Y.6
  • 44
    • 0029123145 scopus 로고
    • Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome
    • Lugenbeel K.A., Peier A.M., Carson N.L., Chudley A.E., and Nelson D.L. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nat. Genet. 10 (1995) 483-485
    • (1995) Nat. Genet. , vol.10 , pp. 483-485
    • Lugenbeel, K.A.1    Peier, A.M.2    Carson, N.L.3    Chudley, A.E.4    Nelson, D.L.5
  • 45
    • 23844501276 scopus 로고    scopus 로고
    • Dicer and eIF2c are enriched at postsynaptic densities in adult mouse brain and are modified by neuronal activity in a calpain-dependent manner
    • Lugli G., Larson J., Martone M.E., Jones Y., and Smalheiser N.R. Dicer and eIF2c are enriched at postsynaptic densities in adult mouse brain and are modified by neuronal activity in a calpain-dependent manner. J. Neurochem. 94 (2005) 896-905
    • (2005) J. Neurochem. , vol.94 , pp. 896-905
    • Lugli, G.1    Larson, J.2    Martone, M.E.3    Jones, Y.4    Smalheiser, N.R.5
  • 46
    • 0035879180 scopus 로고    scopus 로고
    • Abnormal development of dendritic spines in FMR1 knock-out mice
    • Nimchinsky E.A., Oberlander A.M., and Svoboda K. Abnormal development of dendritic spines in FMR1 knock-out mice. J. Neurosci. 21 (2001) 5139-5146
    • (2001) J. Neurosci. , vol.21 , pp. 5139-5146
    • Nimchinsky, E.A.1    Oberlander, A.M.2    Svoboda, K.3
  • 49
    • 33748373580 scopus 로고    scopus 로고
    • RNA-mediated neuromuscular disorders
    • Ranum L.P., and Cooper T.A. RNA-mediated neuromuscular disorders. Annu. Rev. Neurosci. 29 (2006) 259-277
    • (2006) Annu. Rev. Neurosci. , vol.29 , pp. 259-277
    • Ranum, L.P.1    Cooper, T.A.2
  • 50
    • 0035801393 scopus 로고    scopus 로고
    • The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif
    • Schaeffer C., Bardoni B., Mandel J.L., Ehresmann B., Ehresmann C., and Moine H. The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif. EMBO J. 20 (2001) 4803-4813
    • (2001) EMBO J. , vol.20 , pp. 4803-4813
    • Schaeffer, C.1    Bardoni, B.2    Mandel, J.L.3    Ehresmann, B.4    Ehresmann, C.5    Moine, H.6
  • 52
    • 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. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 55 (2007) 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, M.6    Nelson, D.L.7    Botas, J.8
  • 53
    • 7244224871 scopus 로고    scopus 로고
    • Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells
    • Stefani G., Fraser C.E., Darnell J.C., and Darnell R.B. Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells. J. Neurosci. 24 (2004) 9272-9276
    • (2004) J. Neurosci. , vol.24 , pp. 9272-9276
    • Stefani, G.1    Fraser, C.E.2    Darnell, J.C.3    Darnell, R.B.4
  • 55
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome
    • Tassone F., Hagerman R.J., Taylor A.K., Gane L.W., Godfrey T.E., and Hagerman P.J. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am. J. Hum. Genet. 66 (2000) 6-15
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 6-15
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3    Gane, L.W.4    Godfrey, T.E.5    Hagerman, P.J.6
  • 56
    • 23944431645 scopus 로고    scopus 로고
    • FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
    • Tassone F., Iwahashi C., and Hagerman P.J. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol. 1 (2004) 103-105
    • (2004) RNA Biol. , vol.1 , pp. 103-105
    • Tassone, F.1    Iwahashi, C.2    Hagerman, P.J.3
  • 58
    • 0000502460 scopus 로고    scopus 로고
    • The fragile X syndrome
    • Scriver C.R., Beaudet A.L., Valle D., Childs B., Kinzler K.W., and Vogelstein B. (Eds), McGraw-Hill Companies, New York
    • Warren S.T., and Sherman S.L. The fragile X syndrome. In: Scriver C.R., Beaudet A.L., Valle D., Childs B., Kinzler K.W., and Vogelstein B. (Eds). The Metabolic and Molecular Bases of Inherited Disease vol. I (2001), McGraw-Hill Companies, New York 1257-1290
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , vol.I , pp. 1257-1290
    • Warren, S.T.1    Sherman, S.L.2
  • 60
    • 0026781016 scopus 로고
    • A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome
    • Wohrle D., Kotzot D., Hirst M.C., Manca A., Korn B., Schmidt A., Barbi G., Rott H.D., Poustka A., Davies K.E., and Steinbach P. A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am. J. Hum. Genet. 51 (1992) 299-306
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 299-306
    • Wohrle, D.1    Kotzot, D.2    Hirst, M.C.3    Manca, A.4    Korn, B.5    Schmidt, A.6    Barbi, G.7    Rott, H.D.8    Poustka, A.9    Davies, K.E.10    Steinbach, P.11
  • 61
    • 2942715357 scopus 로고    scopus 로고
    • The fragile X-related gene affects the crawling behavior of Drosophila larvae by regulating the mRNA level of the DEG/ENaC protein pickpocket1
    • Xu K., Bogert B.A., Li W., Su K., Lee A., and Gao F.B. The fragile X-related gene affects the crawling behavior of Drosophila larvae by regulating the mRNA level of the DEG/ENaC protein pickpocket1. Curr. Biol. 14 (2004) 1025-1034
    • (2004) Curr. Biol. , vol.14 , pp. 1025-1034
    • Xu, K.1    Bogert, B.A.2    Li, W.3    Su, K.4    Lee, A.5    Gao, F.B.6
  • 62
    • 58149357047 scopus 로고    scopus 로고
    • The steady-state level of the nervous-system-specific microRNA-124a is regulated by dFMR1 in Drosophila
    • Xu X.L., Li Y., Wang F., and Gao F.B. The steady-state level of the nervous-system-specific microRNA-124a is regulated by dFMR1 in Drosophila. J. Neurosci. 28 (2008) 11883-11889
    • (2008) J. Neurosci. , vol.28 , pp. 11883-11889
    • Xu, X.L.1    Li, Y.2    Wang, F.3    Gao, F.B.4
  • 63
    • 34547830405 scopus 로고    scopus 로고
    • Fragile X mental retardation protein modulates the fate of germline stem cells in Drosophila
    • Yang L., Duan R., Chen D., Wang J., and Jin P. Fragile X mental retardation protein modulates the fate of germline stem cells in Drosophila. Hum. Mol. Genet. 16 (2007) 1814-1820
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 1814-1820
    • Yang, L.1    Duan, R.2    Chen, D.3    Wang, J.4    Jin, P.5
  • 64
    • 66349134742 scopus 로고    scopus 로고
    • MicroRNA Bantam is associated with Drosophila Fragile X mental retardation protein and regulates the fate of germline stem cells
    • Yang Y., Xu S., Xia L., Wang J., Jin P., and Chen D. MicroRNA Bantam is associated with Drosophila Fragile X mental retardation protein and regulates the fate of germline stem cells. PLoS Genetics 5 (2009) e1000444
    • (2009) PLoS Genetics , vol.5
    • Yang, Y.1    Xu, S.2    Xia, L.3    Wang, J.4    Jin, P.5    Chen, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.