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Volumn 24, Issue 3, 2004, Pages 236-247

Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability

Author keywords

Repeat expansion; SCA1; SCA2; SSCP duplex analysis

Indexed keywords

ADULT; ALLELE; ARTICLE; FEMALE; GENE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RELIABILITY; SCA1 GENE; SCA2 GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; TANDEM REPEAT;

EID: 4143125649     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20075     Document Type: Article
Times cited : (55)

References (57)
  • 2
    • 0033934458 scopus 로고    scopus 로고
    • Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India
    • Basu P, Chattopadhyay B, Gangopadhaya PK, Mukherjee SC, Sinha KK, Das SK, Roychoudhury S, Majumder PP, Bhattacharyya NP. 2000. Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Hum Genet 106:597-604.
    • (2000) Hum Genet , vol.106 , pp. 597-604
    • Basu, P.1    Chattopadhyay, B.2    Gangopadhaya, P.K.3    Mukherjee, S.C.4    Sinha, K.K.5    Das, S.K.6    Roychoudhury, S.7    Majumder, P.P.8    Bhattacharyya, N.P.9
  • 3
    • 0035201633 scopus 로고    scopus 로고
    • The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders
    • Bowater RP, Wells RD. 2001. The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders. Prog Nucleic Acid Res Mol Biol 66:159-202.
    • (2001) Prog Nucleic Acid Res Mol Biol , vol.66 , pp. 159-202
    • Bowater, R.P.1    Wells, R.D.2
  • 5
    • 0035504107 scopus 로고    scopus 로고
    • CAG repeat instability at SCA2 locus: Anchoring CAA interruptions and linked single nucleotide polymorphisms
    • Choudhry S, Mukerji M, Srivastava AK, Jain S, Brahmachari SK. 2001. CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms. Hum Mol Genet 10:2437-2446.
    • (2001) Hum Mol Genet , vol.10 , pp. 2437-2446
    • Choudhry, S.1    Mukerji, M.2    Srivastava, A.K.3    Jain, S.4    Brahmachari, S.K.5
  • 6
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. 1993. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 5:254-258.
    • (1993) Nat 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
  • 7
    • 0034703871 scopus 로고    scopus 로고
    • Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR
    • Crawford DC, Wilson B, Sherman SL, 2000a. Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR. Hum Mol Genet 9:2909-2918.
    • (2000) Hum Mol Genet , vol.9 , pp. 2909-2918
    • Crawford, D.C.1    Wilson, B.2    Sherman, S.L.3
  • 8
    • 0033854462 scopus 로고    scopus 로고
    • Fragile X CGG repeat structures among African-Americans: Identification of a novel factor responsible for repeat instability
    • Crawford DC, Zhang F, Wilson B, Warren ST, Sherman SL. 2000b. Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability. Hum Mol Genet 9:1759-1769.
    • (2000) Hum Mol Genet , vol.9 , pp. 1759-1769
    • Crawford, D.C.1    Zhang, F.2    Wilson, B.3    Warren, S.T.4    Sherman, S.L.5
  • 9
    • 0034640011 scopus 로고    scopus 로고
    • Fourteen and counting: Unraveling trinucleotide repeat diseases
    • Cummings CJ, Zoghbi HY. 2000. Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet 9:909-916.
    • (2000) Hum Mol Genet , vol.9 , pp. 909-916
    • Cummings, C.J.1    Zoghbi, H.Y.2
  • 10
    • 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 ML, Rouillard P, Morgan K, Rousseau F. 2002. 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 11:371-378.
    • (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
  • 13
    • 0029053371 scopus 로고
    • Trinucleotide repeats that expand in human disease form hairpin structures in vitro
    • Gacy AM, Goellner G, Juranic N, Macura S, McMurray CT. 1995. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81:533-540.
    • (1995) Cell , vol.81 , pp. 533-540
    • Gacy, A.M.1    Goellner, G.2    Juranic, N.3    Macura, S.4    McMurray, C.T.5
  • 22
    • 0032718877 scopus 로고    scopus 로고
    • Possible association between schizophrenia and a CAG repeat polymorphism in the spinocerebellar ataxia type 1 (SCA1) gene on human chromosome 6p23
    • Joo EJ, Lee JH, Cannon TD, Price RA. 1999. Possible association between schizophrenia and a CAG repeat polymorphism in the spinocerebellar ataxia type 1 (SCA1) gene on human chromosome 6p23. Psychiatr Genet 9:7-11.
    • (1999) Psychiatr Genet , vol.9 , pp. 7-11
    • Joo, E.J.1    Lee, J.H.2    Cannon, T.D.3    Price, R.A.4
  • 23
    • 0034444073 scopus 로고    scopus 로고
    • The status of SCA1, MJD/SCA3, FRDA, DRPLA and MD triplet containing genes in patients with Huntington disease and healthy controls
    • Keckarevic D, Culjkovic B, Savic D, Stojkovic O, Kostic V, Vukosavic S, Romac S. 2000. The status of SCA1, MJD/SCA3, FRDA, DRPLA and MD triplet containing genes in patients with Huntington disease and healthy controls. J Neurogenet 14:257-263.
    • (2000) J Neurogenet , vol.14 , pp. 257-263
    • Keckarevic, D.1    Culjkovic, B.2    Savic, D.3    Stojkovic, O.4    Kostic, V.5    Vukosavic, S.6    Romac, S.7
  • 25
    • 0035880135 scopus 로고    scopus 로고
    • Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection
    • Kozlowski P, Krzyzosiak WJ. 2001. Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection. Nucleic Acids Res 29:E71.
    • (2001) Nucleic Acids Res , vol.29
    • Kozlowski, P.1    Krzyzosiak, W.J.2
  • 26
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst CB, Warren ST. 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
  • 27
    • 0030795653 scopus 로고    scopus 로고
    • The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing
    • Kunst CB, Leeflang EP, Iber JC, Arnheim N, Warren ST. 1997. The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. J Med Genet 34:627-631.
    • (1997) J Med Genet , vol.34 , pp. 627-631
    • Kunst, C.B.1    Leeflang, E.P.2    Iber, J.C.3    Arnheim, N.4    Warren, S.T.5
  • 28
    • 0030679611 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
    • Matsumura R, Futamura N, Fujimoto Y, Yanagimoto S, Horikawa H, Suzumura A, Takayanagi T. 1997. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 49:1238-1243.
    • (1997) Neurology , vol.49 , pp. 1238-1243
    • Matsumura, R.1    Futamura, N.2    Fujimoto, Y.3    Yanagimoto, S.4    Horikawa, H.5    Suzumura, A.6    Takayanagi, T.7
  • 29
    • 0033042856 scopus 로고    scopus 로고
    • The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1. SCA1)
    • Matsuyama Z, Izumi Y, Kameyama M, Kawakami H, Nakamura S. 1999. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1. SCA1). J Med Genet 36:546-548.
    • (1999) J Med Genet , vol.36 , pp. 546-548
    • Matsuyama, Z.1    Izumi, Y.2    Kameyama, M.3    Kawakami, H.4    Nakamura, S.5
  • 30
    • 0033064225 scopus 로고    scopus 로고
    • Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: CCG1-2 polymorphism and contribution to founder effect
    • Mizushima K, Watanabe M, Kondo I, Okamoto K, Shizuka M, Abe K, Aoki M, Shoji M. 1999. Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: CCG1-2 polymorphism and contribution to founder effect. J Med Genet 36:112-114.
    • (1999) J Med Genet , vol.36 , pp. 112-114
    • Mizushima, K.1    Watanabe, M.2    Kondo, I.3    Okamoto, K.4    Shizuka, M.5    Abe, K.6    Aoki, M.7    Shoji, M.8
  • 32
    • 0033120421 scopus 로고    scopus 로고
    • Regional differences in genetic subgroup frequency in hereditary cerebellar ataxia, and a morphometrical study of brain MR images in SCA1, MJD and SCA6
    • Nagaoka U, Suzuki Y, Kawanami T, Kurita K, Shikama Y, Honda K, Abe K, Nakajima T, Kato T. 1999. Regional differences in genetic subgroup frequency in hereditary cerebellar ataxia, and a morphometrical study of brain MR images in SCA1, MJD and SCA6. J Neurol Sci 164:187-194.
    • (1999) J Neurol Sci , vol.164 , pp. 187-194
    • Nagaoka, U.1    Suzuki, Y.2    Kawanami, T.3    Kurita, K.4    Shikama, Y.5    Honda, K.6    Abe, K.7    Nakajima, T.8    Kato, T.9
  • 34
    • 0000486352 scopus 로고    scopus 로고
    • Slipped strand DNA, dynamic mutations, and human disease
    • Wells RD, Warren ST, editors. San Diego: Academic Press
    • Pearson CE, Sinden RR. 1998. Slipped strand DNA, dynamic mutations, and human disease. In: Wells RD, Warren ST, editors. Genetic instabilities and neurological diseases. San Diego: Academic Press. p 585-621.
    • (1998) Genetic Instabilities and Neurological Diseases , pp. 585-621
    • Pearson, C.E.1    Sinden, R.R.2
  • 35
    • 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 CE, Eichler EE, Lorenzetti D, Kramer SF, Zoghbi HY, Nelson DL, Sinden RR. 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
  • 38
    • 0028828776 scopus 로고
    • A novel CAG repeat configuration in the SCA1 gene: Implications for the molecular diagnostics of spinocerebellar ataxia type 1
    • Quan F, Janas J, Popovich BW. 1995. A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum Mol Genet 4:2411-2413.
    • (1995) Hum Mol Genet , vol.4 , pp. 2411-2413
    • Quan, F.1    Janas, J.2    Popovich, B.W.3
  • 40
    • 0036591663 scopus 로고    scopus 로고
    • Dominantly inherited, non-coding microsatellite expansion disorders
    • Ranum LP, Day JW. 2002. Dominantly inherited, non-coding microsatellite expansion disorders. Curr Opin Genet Dev 12:266-271.
    • (2002) Curr Opin Genet Dev , vol.12 , pp. 266-271
    • Ranum, L.P.1    Day, J.W.2
  • 41
    • 0030664357 scopus 로고    scopus 로고
    • Dynamic mutation: Possible mechanisms and significance in human disease
    • Richards RI, Sutherland GR. 1997. Dynamic mutation: possible mechanisms and significance in human disease. Trends Biochem Sci 22:432-436.
    • (1997) Trends Biochem Sci , vol.22 , pp. 432-436
    • Richards, R.I.1    Sutherland, G.R.2
  • 42
    • 0033989644 scopus 로고    scopus 로고
    • Stabilizing effects of interruptions on trinucleotide repeat expansions in Saccharomyces cerevisiae
    • Rolfsmeier ML, Lahue RS. 2000. Stabilizing effects of interruptions on trinucleotide repeat expansions in Saccharomyces cerevisiae. Mol Cell Biol 20:173-180.
    • (2000) Mol Cell Biol , vol.20 , pp. 173-180
    • Rolfsmeier, M.L.1    Lahue, R.S.2
  • 43
    • 0034509344 scopus 로고    scopus 로고
    • Mismatch repair blocks expansions of interrupted trinucleotide repeats in yeast
    • Rolfsmeier ML, Dixon MJ, Lahue RS. 2000. Mismatch repair blocks expansions of interrupted trinucleotide repeats in yeast. Mol Cell 6:1501-1507.
    • (2000) Mol Cell , vol.6 , pp. 1501-1507
    • Rolfsmeier, M.L.1    Dixon, M.J.2    Lahue, R.S.3
  • 44
    • 0034061759 scopus 로고    scopus 로고
    • Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: High frequency of SCA2 and evidence for a common founder mutation
    • Saleem Q, Choudhry S, Mukerji M, Bashyam L, Padma MV, Chakravarthy A, Maheshwari MC, Jain S, Brahmachari SK. 2000. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet 106:179-187.
    • (2000) Hum Genet , vol.106 , pp. 179-187
    • Saleem, Q.1    Choudhry, S.2    Mukerji, M.3    Bashyam, L.4    Padma, M.V.5    Chakravarthy, A.6    Maheshwari, M.C.7    Jain, S.8    Brahmachari, S.K.9
  • 47
    • 2642589007 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?
    • Schols L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O. 1997. Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 42:924-932.
    • (1997) Ann Neurol , vol.42 , pp. 924-932
    • Schols, L.1    Amoiridis, G.2    Buttner, T.3    Przuntek, H.4    Epplen, J.T.5    Riess, O.6
  • 48
    • 0035859024 scopus 로고    scopus 로고
    • Neurodegenerative diseases. Origins of instability
    • Sinden RR. 2001. Neurodegenerative diseases. Origins of instability. Nature 411:757-758.
    • (2001) Nature , vol.411 , pp. 757-758
    • Sinden, R.R.1
  • 52
    • 0034093161 scopus 로고    scopus 로고
    • Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
    • Tang B, Liu C, Shen L, Dai H, Pan Q, Jing L, Ouyang S, Xia J. 2000. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds. Arch Neurol 57:540-544.
    • (2000) Arch Neurol , vol.57 , pp. 540-544
    • Tang, B.1    Liu, C.2    Shen, L.3    Dai, H.4    Pan, Q.5    Jing, L.6    Ouyang, S.7    Xia, J.8
  • 53
    • 0031929063 scopus 로고    scopus 로고
    • Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6
    • Watanabe H, Tanaka F, Matsumoto M, Doyu M, Ando T, Mitsuma T, Sobue G. 1998. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6. Clin Genet 53:13-19.
    • (1998) Clin Genet , vol.53 , pp. 13-19
    • Watanabe, H.1    Tanaka, F.2    Matsumoto, M.3    Doyu, M.4    Ando, T.5    Mitsuma, T.6    Sobue, G.7
  • 55
    • 0029017085 scopus 로고
    • Fragile X gene instability: Anchoring AGGs and linked microsatellites
    • Zhong N, Yang W, Dobkin C, Brown WT. 1995. Fragile X gene instability: anchoring AGGs and linked microsatellites. Am J Hum Genet 57:351-361.
    • (1995) Am J Hum Genet , vol.57 , pp. 351-361
    • Zhong, N.1    Yang, W.2    Dobkin, C.3    Brown, W.T.4
  • 57
    • 85047698133 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles
    • Zuhlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Burk K. 2002. Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. Eur J Hum Genet 10:204-209.
    • (2002) Eur J Hum Genet , vol.10 , pp. 204-209
    • Zuhlke, C.1    Dalski, A.2    Hellenbroich, Y.3    Bubel, S.4    Schwinger, E.5    Burk, K.6


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