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Volumn 4, Issue 3, 1993, Pages 221-226

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; REPETITIVE DNA; TRINUCLEOTIDE;

EID: 0027164698     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0793-221     Document Type: Article
Times cited : (1503)

References (43)
  • 1
    • 0000051759 scopus 로고
    • Hereditary ataxia: Clinical study through six generations
    • Schut, J.W. Hereditary ataxia: clinical study through six generations.Arch. Neurol. Psychiat. 63, 535-567 (1954).
    • (1954) Arch. Neurol. Psychiat , vol.63 , pp. 535-567
    • Schut, J.W.1
  • 2
    • 0015410632 scopus 로고
    • Spinocerebellar ataxia: Study of a large kindred
    • Currier, R.D., Glover, G., Jackson, J.F. & Tipton, A.C. Spinocerebellar ataxia: study of a large kindred. Neurology 22, 1040-1043 (1972).
    • (1972) Neurology , vol.22 , pp. 1040-1043
    • Currier, R.D.1    Glover, G.2    Jackson, J.F.3    Tipton, A.C.4
  • 3
    • 0018892013 scopus 로고
    • A family with hereditary ataxia: HLA typing
    • Nino, H.E., Noreen, H.J. & Dubey, D.P. A family with hereditary ataxia: HLA typing. Neurology 30, 12-20 (1980).
    • (1980) Neurology , vol.30 , pp. 12-20
    • Nino, H.E.1    Noreen, H.J.2    Dubey, D.P.3
  • 4
    • 0023875234 scopus 로고
    • Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred
    • Zoghbi, H.Y. et al. Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann. Neurol. 23, 580-584 (1988).
    • (1988) Ann. Neurol , vol.23 , pp. 580-584
    • Zoghbi, H.Y.1
  • 6
    • 0021741939 scopus 로고
    • Spinocerebellar ataxia in large kindred: Age at onset, reproduction, and genetic linkage studies
    • Haines, J.L., Schut, L.J. & Weitkamp, L.R. Spinocerebellar ataxia in large kindred: age at onset, reproduction, and genetic linkage studies.Neurology 34, 1542-1548 (1984).
    • (1984) Neurology , vol.34 , pp. 1542-1548
    • Haines, J.L.1    Schut, L.J.2    Weitkamp, L.R.3
  • 7
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member
    • Brook, J.D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 68, 799-808 (1992).
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1
  • 8
    • 0027392943 scopus 로고
    • Reverse mutation in myotonic dystrophy
    • Bruner, H.G. et al. Reverse mutation in myotonic dystrophy. New Engl. J. Med. 328, 476-480 (1993).
    • (1993) New Engl. J. Med , vol.328 , pp. 476-480
    • Bruner, H.G.1
  • 9
    • 0026584805 scopus 로고
    • Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
    • Buxton, J. et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355, 547-548 (1992).
    • (1992) Nature , vol.355 , pp. 547-548
    • Buxton, J.1
  • 10
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu, Y.-H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047-1058 (1991).
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.-H.1
  • 11
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu, Y.-H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1259 (1992).
    • (1992) Science , vol.255 , pp. 1256-1259
    • Fu, Y.-H.1
  • 12
    • 0026601924 scopus 로고
    • Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
    • Harley, H.G. et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355, 545-546 (1992).
    • (1992) Nature , vol.355 , pp. 545-546
    • Harley, H.G.1
  • 13
    • 0026523591 scopus 로고
    • Unstable DNA sequence in myotonic dystrophy
    • Harley, H.G. et al. Unstable DNA sequence in myotonic dystrophy. Lancet339, 1125-1128 (1992).
    • (1992) Lancet , vol.339 , pp. 1125-1128
    • Harley, H.G.1
  • 14
    • 0025800165 scopus 로고
    • Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
    • Kremer, E.J. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711-1714 (1991).
    • (1991) Science , vol.252 , pp. 1711-1714
    • Kremer, E.J.1
  • 15
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk, A.J.M.H. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914 (1991).
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.M.H.1
  • 16
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3' untranslated region of the gene
    • Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 255, 1253-1255 (1992).
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1
  • 17
    • 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
  • 18
    • 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. & Fishbeck, 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.B.3    Harding, A.E.4    Fishbeck, K.H.5
  • 20
    • 0017389522 scopus 로고
    • Spinocerebellar ataxia and HLA linkage: Risk prediction by HLA typing
    • Jackson, J.F., Currier, R.D., Terasaki, P.I. & Morton, N.E. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. New Engl. J. Med.296, 1138-1141 (1977).
    • (1977) New Engl. J. Med , vol.296 , pp. 1138-1141
    • Jackson, J.F.1    Currier, R.D.2    Terasaki, P.I.3    Morton, N.E.4
  • 21
    • 0025887289 scopus 로고
    • Localization of the autosomal dominant, HLA-linked spinocerebellar ataxia (SCA1) locus in two kindreds within an 8cM subregion of chromosome 6p
    • Ranum, L.P.W. et al. Localization of the autosomal dominant, HLA-linked spinocerebellar ataxia (SCA1) locus in two kindreds within an 8cM subregion of chromosome 6p. Am. J. hum. Genet. 49, 31-41 (1991).
    • (1991) Am. J. Hum. Genet , vol.49 , pp. 31-41
    • Ranum, L.P.W.1
  • 22
    • 84970056930 scopus 로고    scopus 로고
    • The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinudeotide repeat at the AM10 locus
    • (in the press)
    • Kwiatkowski, T.J.Jr. et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinudeotide repeat at the AM10 locus. Am. J. hum. Genet. (in the press).
    • Am. J. Hum. Genet
    • Kwiatkowski, T.J.1
  • 23
    • 0027023516 scopus 로고
    • Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
    • La Spada, A.R. et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet. 2, 301-304 (1992).
    • (1992) Nature Genet , vol.2 , pp. 301-304
    • La Spada, A.R.1
  • 24
    • 0017871680 scopus 로고
    • Autosomal dominant system degeneration in Portuguese families of the Azores
    • Coutinho, P. & Andrade, C. Autosomal dominant system degeneration in Portuguese families of the Azores. Neurology 28, 703-709 (1978).
    • (1978) Neurology , vol.28 , pp. 703-709
    • Coutinho, P.1    Andrade, C.2
  • 25
    • 0027279503 scopus 로고
    • The gene for Machado-Joseph disease maps to human chromosome 14q
    • Takiyama, Y. et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet. 4, 300-304 (1993).
    • (1993) Nature Genet , vol.4 , pp. 300-304
    • Takiyama, Y.1
  • 26
    • 0019789150 scopus 로고
    • Genetic aspects of autosomal dominant late onset cerebellar ataxia
    • Harding, A.E. Genetic aspects of autosomal dominant late onset cerebellar ataxia. J. med. Genet. 18, 436-441 (1981).
    • (1981) J. Med. Genet , vol.18 , pp. 436-441
    • Harding, A.E.1
  • 27
    • 0024422743 scopus 로고
    • Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: Clinical, neuropathological, and biochemical findings
    • Orozco, G. et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings. J. neurol. Sci. 93, 27-50 (1989).
    • (1989) J. Neurol. Sci , vol.93 , pp. 27-50
    • Orozco, G.1
  • 28
    • 0027162192 scopus 로고
    • Chromosomal assignment of the second (Cuban) locus for autosomal dominant cerebellar atrophy (SCA2) to human chromosome 12q23-24.1
    • Gispert, S. et al. Chromosomal assignment of the second (Cuban) locus for autosomal dominant cerebellar atrophy (SCA2) to human chromosome 12q23-24.1. Nature Genet. 4, 295-299 (1993).
    • (1993) Nature Genet , vol.4 , pp. 295-299
    • Gispert, S.1
  • 29
    • 0026893655 scopus 로고
    • Evidence of founder chromosomes in fragile X syndrome
    • Richards, R.I. et al. Evidence of founder chromosomes in fragile X syndrome. Nature Genet. 1, 257-260 (1992).
    • (1992) Nature Genet , vol.1 , pp. 257-260
    • Richards, R.I.1
  • 30
    • 0025912905 scopus 로고
    • Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker
    • Harley, H.G. et al. Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am. J. hum. Genet 49, 68-75 (1991).
    • (1991) Am. J. Hum. Genet , vol.49 , pp. 68-75
    • Harley, H.G.1
  • 31
    • 0026568515 scopus 로고
    • Complete deletion of the androgen receptor gene: Definion of the null phenotype of the androgen insensitivity syndrome and determination of carrier status
    • Quigley, C.A. et al. Complete deletion of the androgen receptor gene: definion of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J. clin. endocrinol. Metab. 74, 927-933 (1992).
    • (1992) J. Clin. Endocrinol. Metab , vol.74 , pp. 927-933
    • Quigley, C.A.1
  • 32
    • 0025964089 scopus 로고
    • The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene
    • Trifiro, M. et al. The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene. Molec. cell. endocrinol. 75, 37-47 (1991).
    • (1991) Molec. Cell. Endocrinol , vol.75 , pp. 37-47
    • Trifiro, M.1
  • 33
    • 0022289842 scopus 로고
    • Nucleotide sequence from the neurogenic locus notch implies a gene product that shares homology with proteins containing EGF-like repeats
    • Wharton, K.A., Johansen, K.M., Xu, T. & Artavanis-Tsakonas, S. Nucleotide sequence from the neurogenic locus notch implies a gene product that shares homology with proteins containing EGF-like repeats.Cell 43, 567-581 (1985).
    • (1985) Cell , vol.43 , pp. 567-581
    • Wharton, K.A.1    Johansen, K.M.2    Xu, T.3    Artavanis-Tsakonas, S.4
  • 34
    • 0025721048 scopus 로고
    • Prospero is expressed in neuronal precursors and encodes a nuclear protein that is involved in the control of axonal outgrowth in Drosophila
    • Vaessin, H. et al. prospero is expressed in neuronal precursors and encodes a nuclear protein that is involved in the control of axonal outgrowth in Drosophila. Cell 67, 941-953 (1991).
    • (1991) Cell , vol.67 , pp. 941-953
    • Vaessin, H.1
  • 35
    • 0026437857 scopus 로고
    • The Drosophila Couch potato protein is expressed in nuclei of peripheral neuronal precursors and shows homology to RNA-binding proteins
    • Bellen, H.J., Kooyer, S., D'Evelyn, D. & Pearlman, J. The Drosophila Couch potato protein is expressed in nuclei of peripheral neuronal precursors and shows homology to RNA-binding proteins. Genes Dev. 6, 2125-2136 (1992).
    • (1992) Genes Dev , vol.6 , pp. 2125-2136
    • Bellen, H.J.1    Kooyer, S.2    D'Evelyn, D.3    Pearlman, J.4
  • 36
    • 0024811686 scopus 로고
    • Synergistic activation by the glutamine-rich domains of human transcription factor Sp1
    • Courey, A.J., Holtzman, D.A., Jackson, S.P. & Tjian, R. Synergistic activation by the glutamine-rich domains of human transcription factor Sp1. Cell 59, 827-836 (1989).
    • (1989) Cell , vol.59 , pp. 827-836
    • Courey, A.J.1    Holtzman, D.A.2    Jackson, S.P.3    Tjian, R.4
  • 37
    • 0024252945 scopus 로고
    • The Drosophila zeste protein binds cooperatively to sites in many gene regulatory regions: Implications for transvection and gene regulation
    • Benson, M. & Pirrotta, V. The Drosophila zeste protein binds cooperatively to sites in many gene regulatory regions: implications for transvection and gene regulation. EMBO J. 7, 3907-3915 (1988).
    • (1988) EMBO J , vol.7 , pp. 3907-3915
    • Benson, M.1    Pirrotta, V.2
  • 38
    • 0023612410 scopus 로고
    • Spinocerebellar ataxia: Localization of an autosomal dominant locus between two markers on human chromosome 6
    • Rich, S.S., Wilkie, P., Schut, L., Vance, G. & Orr, H.T. Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6. Am. J. hum. Genet. 41, 524-531 (1987).
    • (1987) Am. J. Hum. Genet , vol.41 , pp. 524-531
    • Rich, S.S.1    Wilkie, P.2    Schut, L.3    Vance, G.4    Orr, H.T.5
  • 39
    • 0023952529 scopus 로고
    • Extensive DNA polymorphism at the factor Xllla (F13a) locus and linkage to HLA
    • Zoghbi, H.Y., Daiger, S.P., McCall, A., O'Brien, W.E. & Beaudet, A.L. Extensive DNA polymorphism at the factor Xllla (F13a) locus and linkage to HLA. Am. J. hum. Genet. 42, 877-883 (1988).
    • (1988) Am. J. Hum. Genet , vol.42 , pp. 877-883
    • Zoghbi, H.Y.1    Daiger, S.P.2    McCall, A.3    O'Brien, W.E.4    Beaudet, A.L.5
  • 41
    • 0026446099 scopus 로고
    • A second-generation linkage map of the human genome
    • Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794-801 (1992).
    • (1992) Nature , vol.359 , pp. 794-801
    • Weissenbach, J.1
  • 42
    • 0025368589 scopus 로고
    • Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents
    • Albertsen, H.M. et al. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. natn. Acad. Sci. U.S.A. 87, 4256-4260 (1990).
    • (1990) Proc. Natn. Acad. Sci. U.S.A , vol.87 , pp. 4256-4260
    • Albertsen, H.M.1
  • 43
    • 0024370486 scopus 로고
    • Isolation of single-copy human genes from a library of yeast artificial chromosome clones
    • Brownstein, B.H. et al. Isolation of single-copy human genes from a library of yeast artificial chromosome clones. Science 244, 1348-1351 (1989).
    • (1989) Science , vol.244 , pp. 1348-1351
    • Brownstein, B.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.