메뉴 건너뛰기




Volumn 14, Issue 3, 1996, Pages 277-284

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA;

EID: 0030292368     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1196-277     Document Type: Article
Times cited : (699)

References (37)
  • 1
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada, A.R., Wilson, E.M. Lubahn, D.D., Harding, A.E. & Fischbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79 (1991).
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.D.3    Harding, A.E.4    Fischbeck, K.H.5
  • 2
    • 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. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983 (1993).
    • (1993) Cell , vol.72 , pp. 971-983
  • 3
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
    • Orr, H.T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221 -226 (1993).
    • (1993) Nature Genet. , vol.4 , pp. 221-226
    • Orr, H.T.1
  • 4
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13 (1994).
    • (1994) Nature Genet , vol.6 , pp. 9-13
    • Koide, R.1
  • 5
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi, S. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6, 14-18 (1994).
    • (1994) Nature Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1
  • 6
    • 0028143527 scopus 로고
    • CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
    • Kawaguchi, Y. et al CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221-228 (1994).
    • (1994) Nature Genet , vol.8 , pp. 221-228
    • Kawaguchi, Y.1
  • 7
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
    • Gispert, S. et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet. 4, 295-299 (1993).
    • (1993) Nature Genet , vol.4 , pp. 295-299
    • Gispert, S.1
  • 8
    • 0027180211 scopus 로고
    • Anticipation in spinocerebellar ataxia type 2
    • Pulst, S.M., Nechiporuk, A. & Starkman, S. Anticipation in spinocerebellar ataxia type 2. Nature Genet. 5, 8-10 (1993).
    • (1993) Nature Genet , vol.5 , pp. 8-10
    • Pulst, S.M.1    Nechiporuk, A.2    Starkman, S.3
  • 9
    • 0028215549 scopus 로고
    • Evidence for anticipation in schizophrenia
    • Basset, A.S. & Honer, W.G. Evidence for anticipation in schizophrenia. Am. J. Hum. Genet. 54, 864-870 (1994).
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 864-870
    • Basset, A.S.1    Honer, W.G.2
  • 10
    • 0027491810 scopus 로고
    • Anticipation in bipolar affective disorder
    • McInnis, M.G. et al. Anticipation in bipolar affective disorder. Am. J. Hum. Genet. 53, 385-390 (1993).
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 385-390
    • McInnis, M.G.1
  • 11
    • 0028020605 scopus 로고
    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
    • Ranum, L.P.W., Schut, L.J., Lundgren, J.K., Orr, H.T. & Livingston, D.M. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet. 8, 280-284 (1994).
    • (1994) Nature Genet , vol.8 , pp. 280-284
    • Ranum, L.P.W.1    Schut, L.J.2    Lundgren, J.K.3    Orr, H.T.4    Livingston, D.M.5
  • 12
    • 0028169646 scopus 로고
    • Autosomal dominant cerebellar ataxia with retinal degeneration
    • Gouw, L.G., Digre, K.B., Harris, C.P., Haines, J.H. & Ptacek, L.J. Autosomal dominant cerebellar ataxia with retinal degeneration. Neurology 44, 1441-1447 (1994).
    • (1994) Neurology , vol.44 , pp. 1441-1447
    • Gouw, L.G.1    Digre, K.B.2    Harris, C.P.3    Haines, J.H.4    Ptacek, L.J.5
  • 13
    • 0029160493 scopus 로고
    • Direct detection of expanded (CAG/CTG) repeats in the myotonin-protein kinase genes of myotonic dystrophy patients using a high-stringency hybridization method
    • Sanpei, K., Igarashi, S., Eguchi, I., Takiyama, Y., Tanaka, H. & Tsuji, S. Direct detection of expanded (CAG/CTG) repeats in the myotonin-protein kinase genes of myotonic dystrophy patients using a high-stringency hybridization method. Boichi. Biophys. Res. Commun. 212, 341-346 (1995).
    • (1995) Boichi. Biophys. Res. Commun. , vol.212 , pp. 341-346
    • Sanpei, K.1    Igarashi, S.2    Eguchi, I.3    Takiyama, Y.4    Tanaka, H.5    Tsuji, S.6
  • 14
    • 0023850178 scopus 로고
    • Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
    • Saiki, R. K. et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239, 487-491 (1988).
    • (1988) Science , vol.239 , pp. 487-491
    • Saiki, R.K.1
  • 15
    • 0028858001 scopus 로고
    • Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysan atrophy and regional expressions of the expanded alleles in the CNS
    • Onodera, O. et al. Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysan atrophy and regional expressions of the expanded alleles in the CNS. Am. J. Hum. Genet. 57, 1050-1060 (1995).
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 1050-1060
    • Onodera, O.1
  • 16
    • 0028972448 scopus 로고
    • Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxia
    • Trottier, Y. et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxia. Nature 378, 403-406 (1995).
    • (1995) Nature , vol.378 , pp. 403-406
    • Trottier, Y.1
  • 17
    • 0028138380 scopus 로고
    • Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: Linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2)
    • Ihara, T. et al. Genetic heterogeneity of dominantly inherited olivopontocerebellar atrophy (OPCA) in the Japanese: linkage study of two pedigrees and evidence for the disease locus on chromosome 12q (SCA2). Jpn. J. Hum. Genet. 39, 305-313 (1994).
    • (1994) Jpn. J. Hum. Genet. , vol.39 , pp. 305-313
    • Ihara, T.1
  • 18
    • 0025131820 scopus 로고
    • Radiation hybrid mapping: A somatic cell genetic method for constructing high resolulion maps of mammalian chromosomes
    • Cox, D.R., Burmeister, M., Price, E.R., Kim, S. & Myers, R.M. Radiation hybrid mapping: a somatic cell genetic method for constructing high resolulion maps of mammalian chromosomes. Science 250, 245-250 (1990).
    • (1990) Science , vol.250 , pp. 245-250
    • Cox, D.R.1    Burmeister, M.2    Price, E.R.3    Kim, S.4    Myers, R.M.5
  • 19
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • Chung, M.-Y. et al. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet. 5, 254-258 (1993).
    • (1993) Nature Genet , vol.5 , pp. 254-258
    • Chung, M.-Y.1
  • 20
    • 0030292488 scopus 로고    scopus 로고
    • Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxi type 2
    • Pulst S.M. et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxi type 2 Nature Genet 14, 269-276 (1996).
    • (1996) Nature Genet , vol.14 , pp. 269-276
    • Pulst, S.M.1
  • 21
    • 0023665902 scopus 로고
    • An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs
    • Kozak, M. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucl. Acids Res. 15, 8125-8148 (1987).
    • (1987) Nucl. Acids Res. , vol.15 , pp. 8125-8148
    • Kozak, M.1
  • 22
    • 0030294345 scopus 로고    scopus 로고
    • Cloning of the gene for spinooerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats and high instability
    • Imbert, G. et al. Cloning of the gene for spinooerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats and high instability. Nature Genet. 14, 285-291 (1996).
    • (1996) Nature Genet , vol.14 , pp. 285-291
    • Imbert, G.1
  • 23
    • 0027525104 scopus 로고
    • The C. elegans cell death gene ced-3 encodes a protein similar to mammalian interteukin-1β-converting enzyme
    • Yuan, J.-Y. et al. The C. elegans cell death gene ced-3 encodes a protein similar to mammalian interteukin-1β-converting enzyme. Cell 75, 641-652 (1993).
    • (1993) Cell , vol.75 , pp. 641-652
    • Yuan, J.-Y.1
  • 24
    • 0029068871 scopus 로고
    • Identification and inhibition of the ICE/CED-3 protease necessary for mammmalian apoptosis
    • Nicholson, D. W. et al. Identification and inhibition of the ICE/CED-3 protease necessary for mammmalian apoptosis. Nature 376, 37-43 (1995).
    • (1995) Nature , vol.376 , pp. 37-43
    • Nicholson, D.W.1
  • 25
    • 9344227302 scopus 로고    scopus 로고
    • Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
    • Goldberg, Y.P. et al. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nature Genet. 13, 442-449 (1996).
    • (1996) Nature Genet , vol.13 , pp. 442-449
    • Goldberg, Y.P.1
  • 26
    • 0025733702 scopus 로고
    • Mammalian subtilisins: The long-sought dibasic processing endonucleases
    • Barr, P. J. Mammalian subtilisins: the long-sought dibasic processing endonucleases. Cell 66, 1-3 (1991).
    • (1991) Cell , vol.66 , pp. 1-3
    • Barr, P.J.1
  • 27
    • 0030058208 scopus 로고    scopus 로고
    • Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vito and in vivo
    • Ikeda, H. et al. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vito and in vivo. Nature Genet. 13, 196-202 (1996).
    • (1996) Nature Genet , vol.13 , pp. 196-202
    • Ikeda, H.1
  • 28
    • 0027256423 scopus 로고
    • Direct detection of novel expanded trinucleotide repeats in the human genome
    • Schalling, M., Hudson, T.J., Buetow, K.H. & Housman, D.E. Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet. 4, 135-139 (1993).
    • (1993) Nature Genet , vol.4 , pp. 135-139
    • Schalling, M.1    Hudson, T.J.2    Buetow, K.H.3    Housman, D.E.4
  • 29
    • 0029988921 scopus 로고    scopus 로고
    • Somatic mosaicism of expanded CAG repeats in brains of patients with dentatoiubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic Instability
    • Takano, H. et al. Somatic mosaicism of expanded CAG repeats in brains of patients with dentatoiubral-pallidoluysian atrophy: Cellular population-dependent dynamics of mitotic Instability. Am. J. Hum. Genet. 58, 1212-1222 (1996).
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 1212-1222
    • Takano, H.1
  • 30
    • 0000861357 scopus 로고
    • Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxy-methyl-paper and rapid hybridization by using dextran sulfate
    • Wahl, G.M., Stem, M. & Stark, G.R. Efficient transfer of large DNA fragments from agarose gels to diazobenzyloxy-methyl-paper and rapid hybridization by using dextran sulfate. Proc. Natl. Acad. Sci. USA 76, 3683-3687 (1979).
    • (1979) Proc. Natl. Acad. Sci. USA , vol.76 , pp. 3683-3687
    • Wahl, G.M.1    Stem, M.2    Stark, G.R.3
  • 31
    • 0020793569 scopus 로고
    • A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity
    • Feinberg, A.P. & Vogelstein, B.A. A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132, 6-13 (1983).
    • (1983) Anal. Biochem. , vol.132 , pp. 6-13
    • Feinberg, A.P.1    Vogelstein, B.A.2
  • 32
    • 0024121474 scopus 로고
    • Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals
    • Tsuji, S. et al. Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc. Natl. Acad. Sci. USA 85, 2349-2352 (1988).
    • (1988) Proc. Natl. Acad. Sci. USA , vol.85 , pp. 2349-2352
    • Tsuji, S.1
  • 33
    • 0029035379 scopus 로고
    • Expansion and deletion of CTG repeats from human disease gene are determined by the direction of replication in E. coli
    • Kang, S., Jaworski, A., Ohshima, K. & Wells, R.D. Expansion and deletion of CTG repeats from human disease gene are determined by the direction of replication in E. coli Nature Genet. 10, 213-218 (1995).
    • (1995) Nature Genet , vol.10 , pp. 213-218
    • Kang, S.1    Jaworski, A.2    Ohshima, K.3    Wells, R.D.4
  • 34
    • 0024212067 scopus 로고
    • Rapid production of full-length cDNAs from rare transcripts: Amplification using a single gene-specific oligonucleotide primer
    • Frohman, M. A., Dush, M. K. & Martin, G. R. Rapid production of full-length cDNAs from rare transcripts: Amplification using a single gene-specific oligonucleotide primer. Proc. Natl. Acad. Sci. USA 85, 8998-9002 (1988).
    • (1988) Proc. Natl. Acad. Sci. USA , vol.85 , pp. 8998-9002
    • Frohman, M.A.1    Dush, M.K.2    Martin, G.R.3
  • 35
    • 0018639079 scopus 로고
    • Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
    • Chirgwin, J.M., Przbyla, A.E., MacDonald, R.J. & Rutter, W.J. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18, 5294-5299 (1979).
    • (1979) Biochemistry , vol.18 , pp. 5294-5299
    • Chirgwin, J.M.1    Przbyla, A.E.2    MacDonald, R.J.3    Rutter, W.J.4
  • 37
    • 0021943866 scopus 로고
    • Supercoil sequencing:a fast and simple method for sequencing plasmid DNA
    • Chen, E.Y. & Seeburg, P.H. Supercoil sequencing:a fast and simple method for sequencing plasmid DNA. DNA 4, 165-170 (1985).
    • (1985) DNA , vol.4 , pp. 165-170
    • Chen, E.Y.1    Seeburg, P.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.