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Volumn 41, Issue 3, 1996, Pages 279-290

Unstable expansion of triplet repeats as a new disease mechanism for neurodegenerative diseases

Author keywords

[No Author keywords available]

Indexed keywords

DEGENERATIVE DISEASE; FRAGILE X SYNDROME; GENE EXPRESSION REGULATION; HUMAN; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; REVIEW; SEQUENCE ANALYSIS;

EID: 0029953384     PISSN: 09168478     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01913170     Document Type: Review
Times cited : (14)

References (48)
  • 1
    • 0028215549 scopus 로고
    • Evidence for anticipation in schizophrenia
    • Basset AS et al. (1994): Evidence for anticipation in schizophrenia. Am J Hum Genet 54: 864-870
    • (1994) Am J Hum Genet , vol.54 , pp. 864-870
    • Basset, A.S.1
  • 2
    • 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 JD, McCurrach ME, Harley HG et al. (1992): 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) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 3
    • 0029664992 scopus 로고    scopus 로고
    • Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
    • Burke JR, Enghild JJ, Martin ME et al. (1996): Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Med 2: 347-350
    • (1996) Nature Med , vol.2 , pp. 347-350
    • Burke, J.R.1    Enghild, J.J.2    Martin, M.E.3
  • 4
    • 13344270899 scopus 로고    scopus 로고
    • Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
    • Campuzano V, Montermini L, Molto MD et al. (1996): Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1423-1427
    • (1996) Science , vol.271 , pp. 1423-1427
    • Campuzano, V.1    Montermini, L.2    Molto, M.D.3
  • 6
    • 0028244138 scopus 로고
    • Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion
    • Evans K, Fryer A, Inglehearn C, Young DJ et al. (1994): Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nature Genet 6: 210213
    • (1994) Nature Genet , vol.6 , pp. 210213
    • Evans, K.1    Fryer, A.2    Inglehearn, C.3    Young, D.J.4
  • 7
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu YH, Pizzuti A, Fenwick RG Jr et al. (1992): An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.H.1    Pizzuti, A.2    Fenwick Jr., R.G.3
  • 8
    • 9344227302 scopus 로고    scopus 로고
    • Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
    • Goldberg YP, Nicholson DW, Rasper DM et al. (1996): Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nature Genet 13: 442-449
    • (1996) Nature Genet , vol.13 , pp. 442-449
    • Goldberg, Y.P.1    Nicholson, D.W.2    Rasper, D.M.3
  • 9
    • 0028169646 scopus 로고
    • Autosomal dominant cerebellar ataxia with retinal degeneration: Clinical, neuropathologic, and genetic analysis of a large kindred
    • Gouw LG et al. (1994): Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology 44: 1441-1447
    • (1994) Neurology , vol.44 , pp. 1441-1447
    • Gouw, L.G.1
  • 10
    • 0027473897 scopus 로고
    • Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counselling and genetic anticipation
    • Hunter AGW, Jacob P, O'hoy K et al. (1993): Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counselling and genetic anticipation. Am J Med Genet 45: 401-407
    • (1993) Am J Med Genet , vol.45 , pp. 401-407
    • Hunter, A.G.W.1    Jacob, P.2    O'Hoy, K.3
  • 12
    • 0029009456 scopus 로고
    • Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome. -Implication for the molecular mechanism of the instability of the CAG repeat
    • Igarashi S, Takiyama Y, Cancel G et al. (1995): Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome. -Implication for the molecular mechanism of the instability of the CAG repeat. Hum Mol Genet 4: 1137-1146
    • (1995) Hum Mol Genet , vol.4 , pp. 1137-1146
    • Igarashi, S.1    Takiyama, Y.2    Cancel, G.3
  • 13
    • 0030058208 scopus 로고    scopus 로고
    • Xpanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
    • Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A (1996): Xpanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet 13: 196-202
    • (1996) Nature Genet , vol.13 , pp. 196-202
    • Ikeda, H.1    Yamaguchi, M.2    Sugai, S.3    Aze, Y.4    Narumiya, S.5    Kakizuka, A.6
  • 14
    • 0029865956 scopus 로고
    • Non-Mendelian transmission in dentatorubralpallidoluysian atrophy and Machado-Joseph disease: The mutant allele is preferentially transmitted in male meiosis
    • Ikeuchi T, Igarashi S, Takiyama Y et al. (1966): Non-Mendelian transmission in dentatorubralpallidoluysian atrophy and Machado-Joseph disease: The mutant allele is preferentially transmitted in male meiosis. Am J Hum Genet 58: 730-733
    • (1966) Am J Hum Genet , vol.58 , pp. 730-733
    • Ikeuchi, T.1    Igarashi, S.2    Takiyama, Y.3
  • 15
    • 0029044667 scopus 로고
    • Dentatorubral-pallidoluysian atrophy (DRPLA): Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
    • Ikeuchi T, Koide R, Tanaka H (1995a): Dentatorubral-pallidoluysian atrophy (DRPLA): Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 37: 769-775
    • (1995) Ann Neurol , vol.37 , pp. 769-775
    • Ikeuchi, T.1    Koide, R.2    Tanaka, H.3
  • 16
    • 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 et al. (1995b): 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
  • 17
    • 0029174129 scopus 로고
    • Dentatorubral-pallidoluysian atrophy (DRPLA)
    • Ikeuchi T, Onodera O, Tanaka H et al. (1995e): Dentatorubral-pallidoluysian atrophy (DRPLA). Clin Neurosci 3: 23-27
    • (1995) Clin Neurosci , vol.3 , pp. 23-27
    • Ikeuchi, T.1    Onodera, O.2    Tanaka, H.3
  • 18
    • 0028169943 scopus 로고
    • Non-Mendelian transmission in a human developmental disorder: Split hand/split foot
    • Jarvik GP, Patton MA, Homfray T et al. (1994): Non-Mendelian transmission in a human developmental disorder: split hand/split foot. Am J Hum Genet 55: 710-713
    • (1994) Am J Hum Genet , vol.55 , pp. 710-713
    • Jarvik, G.P.1    Patton, M.A.2    Homfray, T.3
  • 19
    • 0028364565 scopus 로고
    • Complex gene conversion events in germline mutation at human minisatellites
    • Jeffrey AJ, Tamaki K, MacLeod A et al. (1994): Complex gene conversion events in germline mutation at human minisatellites. Nature Genet 6: 136-145
    • (1994) Nature Genet , vol.6 , pp. 136-145
    • Jeffrey, A.J.1    Tamaki, K.2    MacLeod, A.3
  • 20
    • 0028143527 scopus 로고
    • CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32,l
    • Kawaguchi Y et al. (1994): CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32,l. Nature Genet 8: 221-227
    • (1994) Nature Genet , vol.8 , pp. 221-227
    • Kawaguchi, Y.1
  • 21
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R et al. (1994): Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 6: 9-13
    • (1994) Nature Genet , vol.6 , pp. 9-13
    • Koide, R.1
  • 22
    • 0025800165 scopus 로고
    • Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
    • Kremer EJ, Pritchard M, Lynch M, Yu S et al. (1991): Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252: 1711-1714
    • (1991) Science , vol.252 , pp. 1711-1714
    • Kremer, E.J.1    Pritchard, M.2    Lynch, M.3    Yu, S.4
  • 23
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Wilson EM, Lubahn DB (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
  • 24
    • 0028024318 scopus 로고
    • Homozygous inheritance of the Machado-Joseph disease gene
    • Lang AE, Rogaeva E A, Tsuda T et al. (1994): Homozygous inheritance of the Machado-Joseph disease gene. Ann Neurol 36: 443-447
    • (1994) Ann Neurol , vol.36 , pp. 443-447
    • Lang, A.E.1    Rogaeva, E.A.2    Tsuda, T.3
  • 25
    • 0028803757 scopus 로고
    • A huntingtin-associated protein enriched in brain with implications for pathology
    • Li X-J, Li S-H, Sharp AH et al. (1995): A huntingtin-associated protein enriched in brain with implications for pathology. Nature 378: 398-402
    • (1995) Nature , vol.378 , pp. 398-402
    • Li, X.-J.1    Li, S.-H.2    Sharp, A.H.3
  • 26
    • 0027286134 scopus 로고
    • Cheaters sometimes prosper: Distortion of Mendelian segregation by meiotic drive
    • Lyttle TW (1993): Cheaters sometimes prosper: distortion of Mendelian segregation by meiotic drive. Trends Genet 9: 205-210
    • (1993) Trends Genet , vol.9 , pp. 205-210
    • Lyttle, T.W.1
  • 27
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3' untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L (1992): Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 255: 1253-1255
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3
  • 29
    • 0026757785 scopus 로고
    • Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene
    • Munier F, Spence MA, Pescica G et al. (1992): Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene. Hum Genet 89: 508-512
    • (1992) Hum Genet , vol.89 , pp. 508-512
    • Munier, F.1    Spence, M.A.2    Pescica, G.3
  • 30
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi S et al. (1994a): Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 6: 14-18
    • (1994) Nature Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1
  • 31
    • 0028060244 scopus 로고
    • Structural and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)
    • Nagafuchi S et al. (19946): Structural and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nature Genet 8: 177-181
    • (1994) Nature Genet , vol.8 , pp. 177-181
    • Nagafuchi, S.1
  • 32
    • 0020064620 scopus 로고
    • Familial myoclonus epilepsy and choreoathetosis; Hereditary dentatorubral-pallidoluysian atrophy
    • Naito N, Oyanagi S (1982): Familial myoclonus epilepsy and choreoathetosis; Hereditary dentatorubral-pallidoluysian atrophy. Neurology 32: 789-817
    • (1982) Neurology , vol.32 , pp. 789-817
    • Naito, N.1    Oyanagi, S.2
  • 33
    • 0026339303 scopus 로고
    • Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
    • Oberle I, Rousseau F, Heitz D et al. (1991): Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252: 1097-1102
    • (1991) Science , vol.252 , pp. 1097-1102
    • Oberle, I.1    Rousseau, F.2    Heitz, D.3
  • 34
    • 0027511450 scopus 로고
    • Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission
    • O'Hoy KL, Tsilfidis C, Mahadevan MS et al. (1993): Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science 259: 809-812
    • (1993) Science , vol.259 , pp. 809-812
    • O'Hoy, K.L.1    Tsilfidis, C.2    Mahadevan, M.S.3
  • 35
    • 0028858001 scopus 로고
    • Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS
    • Onodera O et al. (1995): Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. Am J Hum Genet 57: 1050-1060
    • (1995) Am J Hum Genet , vol.57 , pp. 1050-1060
    • Onodera, O.1
  • 36
    • 0027164698 scopus 로고
    • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type i
    • Orr HT et al. (1993): Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type I. Nature Genet 4: 221-226
    • (1993) Nature Genet , vol.4 , pp. 221-226
    • Orr, H.T.1
  • 37
    • 0025995340 scopus 로고
    • Expression of meiotic drive elements spore killer 2 and spre killer 3 in asci of neurospora tetrasperma
    • Raju NB, Perkins DD (1991): Expression of meiotic drive elements spore killer 2 and spre killer 3 in asci of neurospora tetrasperma. Genetics 129: 25-37
    • (1991) Genetics , vol.129 , pp. 25-37
    • Raju, N.B.1    Perkins, D.D.2
  • 38
    • 0028020605 scopus 로고
    • Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
    • Ranum LPW et al. (1994): Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 8: 280-284
    • (1994) Nature Genet , vol.8 , pp. 280-284
    • Ranum, L.P.W.1
  • 40
    • 0027253278 scopus 로고
    • The peculiar journey of a selfish chromosome: Mouse t haplotypes and meiotic drive
    • Silver LM (1993): The peculiar journey of a selfish chromosome: mouse t haplotypes and meiotic drive. Trends Genet 9: 250-254
    • (1993) Trends Genet , vol.9 , pp. 250-254
    • Silver, L.M.1
  • 41
    • 0029988921 scopus 로고    scopus 로고
    • Somatic mosaicism of expanded CAG arrays in brain of dentatorubral-pallidoluysian atrophy (DRPLA): Age- And cellular population-dependent dynamics of mitotic instability
    • Takano H, Onodera O et al. (1996): Somatic mosaicism of expanded CAG arrays in brain of dentatorubral-pallidoluysian atrophy (DRPLA): Age- and cellular population-dependent dynamics of mitotic instability. Am J Hum Genet 58: 1212-1222
    • (1996) Am J Hum Genet , vol.58 , pp. 1212-1222
    • Takano, H.1    Onodera, O.2
  • 42
    • 0029009456 scopus 로고
    • Evidence for inter-generational instability in the CAG repeat on the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
    • Takiyama Y, Igarashi S, Rogaeva EA et al. (1995): Evidence for inter-generational instability in the CAG repeat on the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 4: 1137-1146
    • (1995) Hum Mol Genet , vol.4 , pp. 1137-1146
    • Takiyama, Y.1    Igarashi, S.2    Rogaeva, E.A.3
  • 43
    • 0028339385 scopus 로고
    • Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
    • Telenius H, Kremer B, Goldberg YP et al. (1994): Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nature Genet 6: 409-414
    • (1994) Nature Genet , vol.6 , pp. 409-414
    • Telenius, H.1    Kremer, B.2    Goldberg, Y.P.3
  • 44
    • 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
  • 45
    • 0028916306 scopus 로고
    • Somatic mosaicism of CAG repeat in dentatorubralpallidoluysian atrophy (DRPLA)
    • Ueno S, Kondoh K, Kotani Y et al. (1995): Somatic mosaicism of CAG repeat in dentatorubralpallidoluysian atrophy (DRPLA). Hum Mol Genet 4: 663-666
    • (1995) Hum Mol Genet , vol.4 , pp. 663-666
    • Ueno, S.1    Kondoh, K.2    Kotani, Y.3
  • 46
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS et al. (1991): Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile syndrome. Cell 65: 905-914
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 47
    • 0023115076 scopus 로고
    • Homozygotes for Huntington's disease
    • Wexler NS, Young AB, Tanzi RE et al. (1987): Homozygotes for Huntington's disease. Nature 326: 194-197
    • (1987) Nature , vol.326 , pp. 194-197
    • Wexler, N.S.1    Young, A.B.2    Tanzi, R.E.3
  • 48
    • 0026347628 scopus 로고
    • Fragile X genotype characterized by an unstable region of DNA
    • Yu S, Pritchard M, Kremer E et al. (1991): Fragile X genotype characterized by an unstable region of DNA. Science 252: 1179-1181
    • (1991) Science , vol.252 , pp. 1179-1181
    • Yu, S.1    Pritchard, M.2    Kremer, E.3


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