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Volumn 13, Issue 4, 2007, Pages 555-562

Elevated FMR1 mRNA in premutation carriers is due to increased transcription

Author keywords

AGG; Fragile X; FXTAS; Nuclear run on; RNA toxicity; Transcription rate

Indexed keywords

DIGOXIGENIN; FRAGILE X MENTAL RETARDATION PROTEIN;

EID: 33947722883     PISSN: 13558382     EISSN: 14699001     Source Type: Journal    
DOI: 10.1261/rna.280807     Document Type: Article
Times cited : (168)

References (40)
  • 1
    • 2542507386 scopus 로고    scopus 로고
    • A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
    • Allen, E.G., He, W., Yadav-Shah, M., and Sherman, S.L. 2004. A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum. Genet. 114: 439-447.
    • (2004) Hum. Genet , vol.114 , pp. 439-447
    • Allen, E.G.1    He, W.2    Yadav-Shah, M.3    Sherman, S.L.4
  • 3
    • 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. 2005. 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: 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
  • 4
    • 1542359463 scopus 로고    scopus 로고
    • Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element
    • Beilina, A., Tassone, F., Schwartz, P.H., Sahota, P., and Hagerman, P.J. 2004. Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum. Mol. Genet. 13: 543-549.
    • (2004) Hum. Mol. Genet , vol.13 , pp. 543-549
    • Beilina, A.1    Tassone, F.2    Schwartz, P.H.3    Sahota, P.4    Hagerman, P.J.5
  • 5
    • 0344668735 scopus 로고    scopus 로고
    • The (CGG)n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter
    • Chen, L.S., Tassone, F., Sahota, P., and Hagerman, P.J. 2003. The (CGG)n repeat element within the 5′ untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter. Hum. Mol. Genet. 12: 3067-3074.
    • (2003) Hum. Mol. Genet , vol.12 , pp. 3067-3074
    • Chen, L.S.1    Tassone, F.2    Sahota, P.3    Hagerman, P.J.4
  • 6
    • 0020731865 scopus 로고
    • Promoter-proximal pausing by RNA polymerase II in vitro: Transcripts shorter than 20 nucleotides are not capped
    • Coppola, J.A., Field, A.S., and Luse, D.S. 1983. Promoter-proximal pausing by RNA polymerase II in vitro: Transcripts shorter than 20 nucleotides are not capped. Proc. Natl. Acad. Sci. 80: 1251-1255.
    • (1983) Proc. Natl. Acad. Sci , vol.80 , pp. 1251-1255
    • Coppola, J.A.1    Field, A.S.2    Luse, D.S.3
  • 7
    • 0037084852 scopus 로고    scopus 로고
    • Premutation and intermediate-size FMR1 alleles in 10,572 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. 2002. Premutation and intermediate-size FMR1 alleles in 10,572 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: 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
  • 9
    • 0036049412 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2
    • Finsterer, J. 2002. Myotonic dystrophy type 2. Eur. J. Neurol. 9: 441-447.
    • (2002) Eur. J. Neurol , vol.9 , pp. 441-447
    • Finsterer, J.1
  • 13
    • 33947714101 scopus 로고    scopus 로고
    • Greenberg, M. and Bender, T. 1997. Nuclear runoff transcription in mammalian cells. Curr. Prot. Molec. Bio. Supp. 37: 4.10.11-14.10.11.
    • Greenberg, M. and Bender, T. 1997. Nuclear runoff transcription in mammalian cells. Curr. Prot. Molec. Bio. Supp. 37: 4.10.11-14.10.11.
  • 14
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-X premutation: A maturing perspective
    • Hagerman, P.J. and Hagerman, R.J. 2004. The fragile-X premutation: A maturing perspective. Am. J. Hum. Genet. 74: 805-816.
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 19
    • 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. 2003. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39: 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
  • 21
    • 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. 2001. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet. 10: 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
  • 22
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst, C.B. and Warren, S.T. 1994. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77: 853-861.
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.1    Warren, S.T.2
  • 26
    • 27844482529 scopus 로고    scopus 로고
    • Increased negative superhelical density in vivo enhances the genetic instability of triplet repeat sequences
    • Napierala, M., Bacolla, A., and Wells, R.D. 2005. Increased negative superhelical density in vivo enhances the genetic instability of triplet repeat sequences. J. Biol. Chem. 280: 37366-37376.
    • (2005) J. Biol. Chem , vol.280 , pp. 37366-37376
    • Napierala, M.1    Bacolla, A.2    Wells, R.D.3
  • 27
    • 0141994818 scopus 로고    scopus 로고
    • A fragile balance: FMR1 expression levels
    • Oostra, B.A. and Willemsen, R. 2003. A fragile balance: FMR1 expression levels. Hum. Mol. Genet. 12: R249-R257.
    • (2003) Hum. Mol. Genet , vol.12
    • Oostra, B.A.1    Willemsen, R.2
  • 28
    • 0032562132 scopus 로고    scopus 로고
    • Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation
    • Pearson, C.E., Eichler, E.E., Lorenzetti, D., Kramer, S.F., Zoghbi, H.Y., Nelson, D.L., and Sinden, R.R. 1998. Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37: 2701-2708.
    • (1998) Biochemistry , vol.37 , pp. 2701-2708
    • Pearson, C.E.1    Eichler, E.E.2    Lorenzetti, D.3    Kramer, S.F.4    Zoghbi, H.Y.5    Nelson, D.L.6    Sinden, R.R.7
  • 29
    • 0036918690 scopus 로고    scopus 로고
    • Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
    • Primerano, B., Tassone, F., Hagerman, R.J., Hagerman, P., Amaldi, F., and Bagni, C. 2002. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 8: 1482-1488.
    • (2002) RNA , vol.8 , pp. 1482-1488
    • Primerano, B.1    Tassone, F.2    Hagerman, R.J.3    Hagerman, P.4    Amaldi, F.5    Bagni, C.6
  • 30
    • 2342461060 scopus 로고    scopus 로고
    • Myotonic dystrophy: RNA pathogenesis comes into focus
    • Ranum, L.P. and Day, J.W. 2004. Myotonic dystrophy: RNA pathogenesis comes into focus. Am. J. Hum. Genet. 74: 793-804.
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 793-804
    • Ranum, L.P.1    Day, J.W.2
  • 31
    • 27744591518 scopus 로고    scopus 로고
    • An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene
    • Saluto, A., Brussino, A., Tassone, F., Arduino, C., Cagnoli, C., Pappi, P., Hagerman, P., Migone, N., and Brusco, A. 2005. An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene. J. Mol. Diagn. 7: 605-612.
    • (2005) J. Mol. Diagn , vol.7 , pp. 605-612
    • Saluto, A.1    Brussino, A.2    Tassone, F.3    Arduino, C.4    Cagnoli, C.5    Pappi, P.6    Hagerman, P.7    Migone, N.8    Brusco, A.9
  • 32
    • 0028074287 scopus 로고
    • Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
    • Snow, K., Tester, D.J., Kruckeberg, K.E., Schaid, D.J., and Thibodeau, S.N. 1994. Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation. Hum. Mol. Genet. 3: 1543-1551.
    • (1994) Hum. Mol. Genet , vol.3 , pp. 1543-1551
    • Snow, K.1    Tester, D.J.2    Kruckeberg, K.E.3    Schaid, D.J.4    Thibodeau, S.N.5
  • 34
  • 35
    • 0034684031 scopus 로고    scopus 로고
    • Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA
    • Tassone, F., Hagerman, R.J., Loesch, D.Z., Lachiewicz, A., Taylor, A.K., and Hagerman, P.J. 2000b. Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am. J. Med. Genet. 94: 232-236.
    • (2000) Am. J. Med. Genet , vol.94 , pp. 232-236
    • Tassone, F.1    Hagerman, R.J.2    Loesch, D.Z.3    Lachiewicz, A.4    Taylor, A.K.5    Hagerman, P.J.6
  • 36
    • 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. 2000c. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome. Am. J. Hum. Genet. 66: 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
  • 37
    • 2342578152 scopus 로고    scopus 로고
    • Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome
    • Tassone, F., Hagerman, R.J., Garcia-Arocena, D., Khandjian, E.W., Greco, C.M., and Hagerman, P.J. 2004a. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J. Med. Genet. 41: e43.
    • (2004) J. Med. Genet , vol.41
    • Tassone, F.1    Hagerman, R.J.2    Garcia-Arocena, D.3    Khandjian, E.W.4    Greco, C.M.5    Hagerman, P.J.6
  • 38
    • 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. 2004b. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol. 1: 103-105.
    • (2004) RNA Biol , vol.1 , pp. 103-105
    • Tassone, F.1    Iwahashi, C.2    Hagerman, P.J.3
  • 39
    • 0037423293 scopus 로고    scopus 로고
    • The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses
    • Zalfa, F., Giorgi, M., Primerano, B., Moro, A., Di Penta, A., Reis, S., Oostra, B., and Bagni, C. 2003. The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses. Cell 112: 317-327.
    • (2003) Cell , vol.112 , pp. 317-327
    • Zalfa, F.1    Giorgi, M.2    Primerano, B.3    Moro, A.4    Di Penta, A.5    Reis, S.6    Oostra, B.7    Bagni, C.8
  • 40
    • 0028283364 scopus 로고
    • Fragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity?
    • Zhong, N., Ye, L., Dobkin, C., and Brown, W.T. 1994. Fragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity? Am. J. Med. Genet. 51: 405-411.
    • (1994) Am. J. Med. Genet , vol.51 , pp. 405-411
    • Zhong, N.1    Ye, L.2    Dobkin, C.3    Brown, W.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.