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Volumn 8, Issue 6, 1999, Pages 1061-1067

Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: Associations with flanking GC content and proximity to CpG islands

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT;

EID: 0032971232     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.6.1061     Document Type: Article
Times cited : (110)

References (48)
  • 6
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 7
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell, 72, 971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 15
    • 0026885037 scopus 로고
    • Anticipation in myotonic dystrophy: New light on an old problem
    • Harper, P.S., Harley, H.G., Reardon, W. and Shaw, D.J. (1992) Anticipation in myotonic dystrophy: new light on an old problem. Am. J. Hum Genet., 51, 10-16.
    • (1992) Am. J. Hum Genet. , vol.51 , pp. 10-16
    • Harper, P.S.1    Harley, H.G.2    Reardon, W.3    Shaw, D.J.4
  • 16
    • 0029584496 scopus 로고
    • Trinucleotide repeat expansion and human disease
    • Ashley, C.T. Jr and Warren, S.T. (1995) Trinucleotide repeat expansion and human disease. Annu. Rev. Genet., 29, 703-728.
    • (1995) Annu. Rev. Genet. , vol.29 , pp. 703-728
    • Ashley C.T., Jr.1    Warren, S.T.2
  • 17
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • Chung, M.Y., Ranum, L.P., Duvick, L.A., Servadio, A., Zoghbi, H.Y. and Orr, H.T. (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet., 5, 254-258.
    • (1993) Nature Genet. , vol.5 , pp. 254-258
    • Chung, M.Y.1    Ranum, L.P.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 20
    • 0028925739 scopus 로고
    • CAG repeat length variation in sperm from a patient with Kennedy's disease
    • Zhang, L., Fischbeck, K.H. and Amheim, N. (1995) CAG repeat length variation in sperm from a patient with Kennedy's disease. Hum. Mol. Genet., 4, 303-305.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 303-305
    • Zhang, L.1    Fischbeck, K.H.2    Amheim, N.3
  • 21
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and inter-generational reductions in myotonic dystrophy males: Small pool PCR analyses
    • Monckton, D.G., Wong, L.-J.C, Ashizawa, T. and Caskey, C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and inter-generational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet., 4, 1-8.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.-J.C.2    Ashizawa, T.3    Caskey, C.T.4
  • 23
    • 0029035710 scopus 로고
    • Gametic and somatic tissue specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
    • Chong, S.S., McCall, A.E., Cota, J., Subramony, S.H., Orr, H.T., Hughes, M.R. and Zoghbi, H.Y. (1995) Gametic and somatic tissue specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 10, 344-350.
    • (1995) Nature Genet. , vol.10 , pp. 344-350
    • Chong, S.S.1    McCall, A.E.2    Cota, J.3    Subramony, S.H.4    Orr, H.T.5    Hughes, M.R.6    Zoghbi, H.Y.7
  • 24
    • 8544224974 scopus 로고    scopus 로고
    • Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): Evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability
    • Takiyama, Y., Sakoe, K., Soutome, M., Namekawa, M., Ogawa, T., Nakano, I., Igarashi, S., Oyake, M., Tanaka, H., Tsuji, S. and Nishizawa, M. (1997) Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability. Hum. Mol. Genet., 6, 1063-1068.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1063-1068
    • Takiyama, Y.1    Sakoe, K.2    Soutome, M.3    Namekawa, M.4    Ogawa, T.5    Nakano, I.6    Igarashi, S.7    Oyake, M.8    Tanaka, H.9    Tsuji, S.10    Nishizawa, M.11
  • 25
    • 0023216891 scopus 로고
    • CpG islands in vertebrate genomes
    • Gardiner-Gardner, M. and Frommer, M. (1987) CpG islands in vertebrate genomes. J. Mol. Biol., 196, 261-282.
    • (1987) J. Mol. Biol. , vol.196 , pp. 261-282
    • Gardiner-Gardner, M.1    Frommer, M.2
  • 29
    • 0030603223 scopus 로고    scopus 로고
    • Identification of the gene-richest bands in human chromosomes
    • Saccone, S., Caccio, S., Kusuda, J., Andreozzi, L. and Bernardi, G. (1996) Identification of the gene-richest bands in human chromosomes. Gene, 174, 85-94.
    • (1996) Gene , vol.174 , pp. 85-94
    • Saccone, S.1    Caccio, S.2    Kusuda, J.3    Andreozzi, L.4    Bernardi, G.5
  • 30
    • 0005133580 scopus 로고    scopus 로고
    • Biophysical and structural studies on triplet repeat sequences: Duplex triplet repeat structures
    • Wells, R.D. and Warren, S.T. (eds), Academic Press, London
    • Gellibolian, R. and Bacolla, A. (1998) Biophysical and structural studies on triplet repeat sequences: duplex triplet repeat structures. In Wells, R.D. and Warren, S.T. (eds), Genetic Instabilities and Hereditary Neurological Diseases. Academic Press, London, pp. 561-583.
    • (1998) Genetic Instabilities and Hereditary Neurological Diseases , pp. 561-583
    • Gellibolian, R.1    Bacolla, A.2
  • 31
    • 0030763670 scopus 로고    scopus 로고
    • Intriguing association between disease associated unstable trinucleotide repeat and CpG island
    • Gourdon, G., Dessen, P., Lia, A.S., Junien, C. and Hofmann-Radvanyi, H. (1997) Intriguing association between disease associated unstable trinucleotide repeat and CpG island. Ann. Genet., 40, 73-77.
    • (1997) Ann. Genet. , vol.40 , pp. 73-77
    • Gourdon, G.1    Dessen, P.2    Lia, A.S.3    Junien, C.4    Hofmann-Radvanyi, H.5
  • 32
    • 0023472826 scopus 로고
    • CpG islands as gene markers in the vertebrate nucleus
    • Bird, A.P. (1987) CpG islands as gene markers in the vertebrate nucleus. Trends Genet., 3, 342-347.
    • (1987) Trends Genet. , vol.3 , pp. 342-347
    • Bird, A.P.1
  • 34
    • 2642647114 scopus 로고    scopus 로고
    • Initiation of DNA replication at CpG islands in mammalian chromosomes
    • Delgado, S., Gomez, M., Bird, A. and Antequera, F. (1998) Initiation of DNA replication at CpG islands in mammalian chromosomes. EMBO J., 17, 2426-2435.
    • (1998) EMBO J. , vol.17 , pp. 2426-2435
    • Delgado, S.1    Gomez, M.2    Bird, A.3    Antequera, F.4
  • 35
    • 0029035379 scopus 로고
    • Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in Escherichia coli
    • Kang, S., Jaworski, A., Ohshima, K. and Wells, R.D. (1995) Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in Escherichia coli. Nature Genet., 10, 213-218.
    • (1995) Nature Genet. , vol.10 , pp. 213-218
    • Kang, S.1    Jaworski, A.2    Ohshima, K.3    Wells, R.D.4
  • 36
    • 0030789980 scopus 로고    scopus 로고
    • Transcription increases the deletion frequency of long CTG/CAG triplet repeats from plasmids in Escherichia coli
    • Bowater, R.P., Jaworski, A., Larson, J.E., Parniewski, P. and Wells, R.D. (1997) Transcription increases the deletion frequency of long CTG/CAG triplet repeats from plasmids in Escherichia coli. Nucleic Acids Res., 25, 2861-2868.
    • (1997) Nucleic Acids Res. , vol.25 , pp. 2861-2868
    • Bowater, R.P.1    Jaworski, A.2    Larson, J.E.3    Parniewski, P.4    Wells, R.D.5
  • 37
    • 0032514711 scopus 로고    scopus 로고
    • Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae
    • Miret, J.J., Pessoa-Brandao, L. and Lahue, R.S. (1998) Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae. Proc. Natl Acad. Sci. USA, 95, 12438-12443.
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 12438-12443
    • Miret, J.J.1    Pessoa-Brandao, L.2    Lahue, R.S.3
  • 38
    • 0027408596 scopus 로고
    • Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring
    • Redman, J.B., Fenwick, R.G., Fu, Y.-H., Pizzuti, A. and Caskey, C.T. (1993) Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. J. Am. Med. Assoc., 269, 1960-1965.
    • (1993) J. Am. Med. Assoc. , vol.269 , pp. 1960-1965
    • Redman, J.B.1    Fenwick, R.G.2    Fu, Y.-H.3    Pizzuti, A.4    Caskey, C.T.5
  • 44
    • 0031906658 scopus 로고    scopus 로고
    • The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates
    • Giunti, P., Sabbadini, G., Sweeney, M.G., Davis, M.B., Veneziano, L., Mantuano, E., Federico, A., Plasmati, R., Frontali, M. and Wood, N.W. (1998) The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates. Brain, 121, 459-467.
    • (1998) Brain , vol.121 , pp. 459-467
    • Giunti, P.1    Sabbadini, G.2    Sweeney, M.G.3    Davis, M.B.4    Veneziano, L.5    Mantuano, E.6    Federico, A.7    Plasmati, R.8    Frontali, M.9    Wood, N.W.10
  • 46
    • 0031882739 scopus 로고    scopus 로고
    • Sporadic cases of dentatorubral-pallidoluysian atrophy associated with maternal transmission
    • Shimohata, T., Ishiguro, H., Makino, K., Takano, H., Tanaka, H., Tsuji, S. and Hirota, K. (1998) Sporadic cases of dentatorubral-pallidoluysian atrophy associated with maternal transmission. Neurology, 50, 282-283.
    • (1998) Neurology , vol.50 , pp. 282-283
    • Shimohata, T.1    Ishiguro, H.2    Makino, K.3    Takano, H.4    Tanaka, H.5    Tsuji, S.6    Hirota, K.7
  • 47
    • 0029242169 scopus 로고
    • Dentatorubral-pallidoluysian atrophy (DRPLA): Close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation
    • Ikeuchi, T., Onodera, O., Oyake, M., Koide, R., Tanaka, H. and Tsuji, S. (1995) Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation. Semin. Cell Biol., 6, 37-44.
    • (1995) Semin. Cell Biol. , vol.6 , pp. 37-44
    • Ikeuchi, T.1    Onodera, O.2    Oyake, M.3    Koide, R.4    Tanaka, H.5    Tsuji, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.