메뉴 건너뛰기




Volumn 5, Issue 7, 1996, Pages 923-932

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat

(29)  Igarashi, S a   Takiyama, Y a,b   Cancel, G c   Rogaeva, E A d   Sasaki, H e   Wakisaka, A e   Zhou, Y X f   Takano, H a   Endo, K a   Sanpei, K a   Oyake, M a   Tanaka, H a   Stevanin, G c   Abbas, N c   Durr A c   Rogaev, E I d   Sherrington, R d   Tsuda, T d   Ikeda, M d   Cassa, E g   more..


Author keywords

[No Author keywords available]

Indexed keywords

DNA; REPETITIVE DNA;

EID: 2442761245     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.7.923     Document Type: Article
Times cited : (79)

References (49)
  • 1
    • 0015251021 scopus 로고
    • Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts
    • Nakano, K.K., Dawson, D.M. and Spence, A. (1972) Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurol. 22, 49-55.
    • (1972) Neurol. , vol.22 , pp. 49-55
    • Nakano, K.K.1    Dawson, D.M.2    Spence, A.3
  • 2
    • 0015412724 scopus 로고
    • Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: A unique and partially treatable clinicopathological entity
    • Woods, B.T. and Schaumburg, H.H. (1972) Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia: a unique and partially treatable clinicopathological entity. J. Neurol. Sci. 17, 149-166.
    • (1972) J. Neurol. Sci. , vol.17 , pp. 149-166
    • Woods, B.T.1    Schaumburg, H.H.2
  • 3
    • 0017117382 scopus 로고
    • Autosomal dominant striatonigral degeneration: A clinical, pathologic, and biochemical study of a new genetic disorder
    • Rosenberg, R.N., Nyhan, W.L., Bay, C. and Shore, P. (1976) Autosomal dominant striatonigral degeneration: a clinical, pathologic, and biochemical study of a new genetic disorder. Neurol. 26, 703-714.
    • (1976) Neurol. , vol.26 , pp. 703-714
    • Rosenberg, R.N.1    Nyhan, W.L.2    Bay, C.3    Shore, P.4
  • 4
    • 0018872672 scopus 로고
    • Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family
    • Lima, L. and Coutinho, P. (1980) Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorean Portuguese family. Neurol. 30, 319-322.
    • (1980) Neurol. , vol.30 , pp. 319-322
    • Lima, L.1    Coutinho, P.2
  • 6
    • 0020691438 scopus 로고
    • Joseph disease in a non-Portuguese family
    • Sakai, T., Ohta, M. and Ishino, H. (1983) Joseph disease in a non-Portuguese family. Neurol. 33, 74-80.
    • (1983) Neurol. , vol.33 , pp. 74-80
    • Sakai, T.1    Ohta, M.2    Ishino, H.3
  • 8
    • 0028141691 scopus 로고
    • A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q
    • Takiyama, Y., Oyanagi, S., Kawashima, S., Sakamoto, H., Saito, K., Yoshida, M., Tsuji, S., Mizuno, Y. and Nishizawa, M. (1994) A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurol. 44, 1302-1308.
    • (1994) Neurol. , vol.44 , pp. 1302-1308
    • Takiyama, Y.1    Oyanagi, S.2    Kawashima, S.3    Sakamoto, H.4    Saito, K.5    Yoshida, M.6    Tsuji, S.7    Mizuno, Y.8    Nishizawa, M.9
  • 10
    • 0028890672 scopus 로고
    • Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/ D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families
    • Sasaki, H., Wakisaka, A., Takada, A., Yoshiki, T., Ihara, T., Suzuki, Y., Hamada, T., Iwabuchi, K., Onari, K., Tada, J., Suzuki, T. and Tashiro, K. (1995) Mapping of the gene for Machado-Joseph disease within a 3.6-cM interval flanked by D14S291/ D14S280 and D14S81, on the basis of studies of linkage and linkage disequilibrium in 24 Japanese families. Am. J. HumGenet. 56, 231-242.
    • (1995) Am. J. HumGenet. , vol.56 , pp. 231-242
    • Sasaki, H.1    Wakisaka, A.2    Takada, A.3    Yoshiki, T.4    Ihara, T.5    Suzuki, Y.6    Hamada, T.7    Iwabuchi, K.8    Onari, K.9    Tada, J.10    Suzuki, T.11    Tashiro, K.12
  • 17
    • 0029084672 scopus 로고    scopus 로고
    • Characterization of the unstable expanded CAG repeat in the MJD1 gene in 4 Brazilian families of Portuguese descent with Machad-Joseph disease
    • Stevanin, G. et al. (1996) Characterization of the unstable expanded CAG repeat in the MJD1 gene in 4 Brazilian families of Portuguese descent with Machad-Joseph disease. J. Med. Genet. 32, 827-830.
    • (1996) J. Med. Genet. , vol.32 , pp. 827-830
    • Stevanin, G.1
  • 22
    • 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
  • 27
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
    • Chung, M.-Y., Ranum, L.P.W., 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 1. Nature Genet. 5, 254-258.
    • (1993) Nature Genet. , vol.5 , pp. 254-258
    • Chung, M.-Y.1    Ranum, L.P.W.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 29
    • 0029134871 scopus 로고
    • Spinocerebellar ataxia type I and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive or sporadic ataxia
    • Ranum, L.P.W., Lundgren, J.K., Schut, L.J., Ahrens, M.J., Perlman, S., Aita, J., Bird, T.D., Gomez, C. and Orr, H.T. (1995) Spinocerebellar ataxia type I and Machado-Joseph disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive or sporadic ataxia. Am. J. Hum. Genet. 57, 603-608.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 603-608
    • Ranum, L.P.W.1    Lundgren, J.K.2    Schut, L.J.3    Ahrens, M.J.4    Perlman, S.5    Aita, J.6    Bird, T.D.7    Gomez, C.8    Orr, H.T.9
  • 34
    • 12244266688 scopus 로고
    • Ancestral differences in the distribution of the A2642 glutamic acid polymorphism are associated with varying CAG repeat lengths on normal chromosomes: Insights into the genetic evolution of Huntington disease
    • Almqvist, E., Spence, N., Nichol, K., Andrew, S.E., Vesa, J., Peltonen, L., Anvret, M., Goto, J., Kanazawa, I., Goldberg, Y.P., and Hayden, M.R. (1995) Ancestral differences in the distribution of the A2642 glutamic acid polymorphism are associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum. Mol. Genet. 4, 207-214.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 207-214
    • Almqvist, E.1    Spence, N.2    Nichol, K.3    Andrew, S.E.4    Vesa, J.5    Peltonen, L.6    Anvret, M.7    Goto, J.8    Kanazawa, I.9    Goldberg, Y.P.10    Hayden, M.R.11
  • 35
    • 0028986598 scopus 로고
    • Haplotype analysis of the A2642 and (CAG)n polymorphism in the Huntington's disease (HD) gene provides an explanation for an apparent founder HD haplotype
    • Rubinsztein, D.C., Leggo, J., Goodburn, S., Barton, D.E. and Ferguson-Smith, M.A. (1995) Haplotype analysis of the A2642 and (CAG)n polymorphism in the Huntington's disease (HD) gene provides an explanation for an apparent founder HD haplotype. Hum. Mol. Genet. 4, 203-206.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 203-206
    • Rubinsztein, D.C.1    Leggo, J.2    Goodburn, S.3    Barton, D.E.4    Ferguson-Smith, M.A.5
  • 36
    • 0028074287 scopus 로고
    • Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
    • Snow, K., Tester, D.J., Kruckeberg, K.E., Schaid, D.J. and Thibodeau, S.N. (1994) Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum. Mol. Genet. 3, 1543-1551.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1543-1551
    • Snow, K.1    Tester, D.J.2    Kruckeberg, K.E.3    Schaid, D.J.4    Thibodeau, S.N.5
  • 37
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst, C.B. and Warren, S.T. (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
  • 38
    • 0027251874 scopus 로고
    • Origin of the expansion mutation in myotonic dystrophy
    • Imbert, G., Kretz, C., Johnson, K. and Mandel, J.L. (1993) Origin of the expansion mutation in myotonic dystrophy. Nature Genet. 4, 72-76.
    • (1993) Nature Genet. , vol.4 , pp. 72-76
    • Imbert, G.1    Kretz, C.2    Johnson, K.3    Mandel, J.L.4
  • 39
    • 0028156915 scopus 로고
    • High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation
    • Neville, C.E., Mahadevan, M.S., Barcelo, J.M. and Komeluk, R.G. (1994) High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum. Mol. Genet. 3, 45-51.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 45-51
    • Neville, C.E.1    Mahadevan, M.S.2    Barcelo, J.M.3    Komeluk, R.G.4
  • 40
    • 0028072993 scopus 로고
    • Myotonic dystrophy CTG repeat and associated insertion/deletion polymorphism in human and primate populations
    • Rubinsztein, D.C., Leggo, J., Amos, W., Barton, D.E. and Ferguson-Smith, M.A. (1994) Myotonic dystrophy CTG repeat and associated insertion/deletion polymorphism in human and primate populations. Hum. Mol. Genet. 3, 2031-2035.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2031-2035
    • Rubinsztein, D.C.1    Leggo, J.2    Amos, W.3    Barton, D.E.4    Ferguson-Smith, M.A.5
  • 41
    • 0028787581 scopus 로고
    • Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: Evidence for a commom founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese Azorean mutation
    • Stevanin, G.; Cancel, G., Didierjean, O., Durr, A., Abbas, N., Cassa, E., Feingold, J., Agid, Y and Brice, A. (1995) Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a commom founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese Azorean mutation. Am. J. Hum. Genet. 57, 1247-1250.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 1247-1250
    • Stevanin, G.1    Cancel, G.2    Didierjean, O.3    Durr, A.4    Abbas, N.5    Cassa, E.6    Feingold, J.7    Agid, Y.8    Brice, A.9
  • 42
    • 0025986943 scopus 로고
    • Minisatellite repeat coding as a digital approach to DNA typing
    • Jeffreys, A.J., MacLeod, A., Tamaki, K., Neil, D.L. and Monckton, D.G. (1991) Minisatellite repeat coding as a digital approach to DNA typing. Nature 354, 204-209.
    • (1991) Nature , vol.354 , pp. 204-209
    • Jeffreys, A.J.1    MacLeod, A.2    Tamaki, K.3    Neil, D.L.4    Monckton, D.G.5
  • 49


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.