메뉴 건너뛰기




Volumn 6, Issue 6, 2007, Pages 789-796

Inherited CAG·CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

Author keywords

DNA mutation; Genetic instability; Huntington disease; Mutation detection; Somatic mosaicism; Triplet repeat expansion

Indexed keywords

CELL DNA;

EID: 34247567905     PISSN: 15687864     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.dnarep.2007.01.002     Document Type: Article
Times cited : (40)

References (32)
  • 1
    • 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
    • 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 (1993) 971-983
    • (1993) Cell , vol.72 , pp. 971-983
  • 2
    • 0021982117 scopus 로고
    • Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease
    • Graveland G.A., Williams R.S., and Di Figlia M. Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease. Science 227 (1985) 770-773
    • (1985) Science , vol.227 , pp. 770-773
    • Graveland, G.A.1    Williams, R.S.2    Di Figlia, M.3
  • 4
    • 0030069713 scopus 로고    scopus 로고
    • Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease
    • Furtado S., Suchowersky O., Rewcastle B., Graham L., Klimek M.L., and Garber A. Relationship between trinucleotide repeats and neuropathological changes in Huntington's disease. Ann. Neurol. 39 (1996) 132-136
    • (1996) Ann. Neurol. , vol.39 , pp. 132-136
    • Furtado, S.1    Suchowersky, O.2    Rewcastle, B.3    Graham, L.4    Klimek, M.L.5    Garber, A.6
  • 10
  • 16
    • 0031056685 scopus 로고    scopus 로고
    • Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
    • Mangiarini L., Sathasivam K., Mahal A., Mott R., Seller M., and Bates G.P. Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nat. Genet. 15 (1997) 197-200
    • (1997) Nat. Genet. , vol.15 , pp. 197-200
    • Mangiarini, L.1    Sathasivam, K.2    Mahal, A.3    Mott, R.4    Seller, M.5    Bates, G.P.6
  • 17
    • 0034641887 scopus 로고    scopus 로고
    • Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
    • Kennedy L., and Shelbourne P.F. Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?. Hum. Mol. Genet. 9 (2000) 2539-2544
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 2539-2544
    • Kennedy, L.1    Shelbourne, P.F.2
  • 18
    • 0346752132 scopus 로고    scopus 로고
    • Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
    • Kennedy L., Evans E., Chen C.M., Craven L., Detloff P.J., Ennis M., and Shelbourne P.F. Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis. Hum. Mol. Genet. 12 (2003) 3359-3367
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 3359-3367
    • Kennedy, L.1    Evans, E.2    Chen, C.M.3    Craven, L.4    Detloff, P.J.5    Ennis, M.6    Shelbourne, P.F.7
  • 19
    • 4444323468 scopus 로고    scopus 로고
    • Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion
    • Gomes-Pereira M., Fortune M.T., Ingram L., McAbney J.P., and Monckton D.G. Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum. Mol. Genet. 13 (2004) 1815-1825
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1815-1825
    • Gomes-Pereira, M.1    Fortune, M.T.2    Ingram, L.3    McAbney, J.P.4    Monckton, D.G.5
  • 20
    • 34247567822 scopus 로고    scopus 로고
    • Somatic mosaicism of expanded CAG·CTG repeats in humans and mice: dynamics, mechanisms and consequences
    • Ashizawa T., and Wells R.D. (Eds), Elsevier, San Diego
    • Shelbourne P.F., and Monckton D.G. Somatic mosaicism of expanded CAG·CTG repeats in humans and mice: dynamics, mechanisms and consequences. In: Ashizawa T., and Wells R.D. (Eds). Genetic Instabilities and Neurological Diseases (2006), Elsevier, San Diego 537-561
    • (2006) Genetic Instabilities and Neurological Diseases , pp. 537-561
    • Shelbourne, P.F.1    Monckton, D.G.2
  • 21
    • 33744937952 scopus 로고    scopus 로고
    • Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down
    • Gomes-Pereira M., and Monckton D.G. Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down. Mutat. Res. 598 (2006) 15-34
    • (2006) Mutat. Res. , vol.598 , pp. 15-34
    • Gomes-Pereira, M.1    Monckton, D.G.2
  • 23
    • 0027275819 scopus 로고
    • A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes
    • Warner J.P., Barren L.H., and Brock D.J. A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. Mol. Cell. Probes 7 (1993) 235-239
    • (1993) Mol. Cell. Probes , vol.7 , pp. 235-239
    • Warner, J.P.1    Barren, L.H.2    Brock, D.J.3
  • 24
    • 0028873248 scopus 로고
    • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses
    • Monckton D.G., Wong L.-J.C., Ashizawa T., and Caskey C.T. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet. 4 (1995) 1-8
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1-8
    • Monckton, D.G.1    Wong, L.-J.C.2    Ashizawa, T.3    Caskey, C.T.4
  • 25
    • 4544376726 scopus 로고    scopus 로고
    • Analysis of unstable triplet repeats using small-pool polymerase chain reaction
    • Gomes-Pereira M., Bidichandani S.I., and Monckton D.G. Analysis of unstable triplet repeats using small-pool polymerase chain reaction. Methods Mol. Biol. 277 (2004) 61-76
    • (2004) Methods Mol. Biol. , vol.277 , pp. 61-76
    • Gomes-Pereira, M.1    Bidichandani, S.I.2    Monckton, D.G.3
  • 26
    • 0027300692 scopus 로고
    • The determination of the sequences present in the shadow bands of a dinucleotide repeat PCR
    • Murray V., Monchawin C., and England P.R. The determination of the sequences present in the shadow bands of a dinucleotide repeat PCR. Nucleic Acids Res. 21 (1993) 2395-2398
    • (1993) Nucleic Acids Res. , vol.21 , pp. 2395-2398
    • Murray, V.1    Monchawin, C.2    England, P.R.3
  • 27
    • 0003112950 scopus 로고    scopus 로고
    • Human germline mutation analysis by single genome PCR: application to dynamic mutations
    • Wells R.D., Warren S.T., and Sarmiento M. (Eds), Academic Press, San Diego
    • Leeflang E.P., Tavare S., Marjoram P., Grewal R., Neal C.O.S., and Arnheim N. Human germline mutation analysis by single genome PCR: application to dynamic mutations. In: Wells R.D., Warren S.T., and Sarmiento M. (Eds). Genetic Instabilities and Hereditary Neurological Diseases (1998), Academic Press, San Diego 543-558
    • (1998) Genetic Instabilities and Hereditary Neurological Diseases , pp. 543-558
    • Leeflang, E.P.1    Tavare, S.2    Marjoram, P.3    Grewal, R.4    Neal, C.O.S.5    Arnheim, N.6
  • 28
    • 0036538560 scopus 로고    scopus 로고
    • Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm
    • Zhang Y., Monckton D.G., Siciliano M.J., Connor T.H., and Meistrich M.L. Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm. Hum. Mol. Genet. 11 (2002) 791-798
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 791-798
    • Zhang, Y.1    Monckton, D.G.2    Siciliano, M.J.3    Connor, T.H.4    Meistrich, M.L.5
  • 29
    • 0032708840 scopus 로고    scopus 로고
    • Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
    • Manley K., Shirley T.L., Flaherty L., and Messer A. Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet. 23 (1999) 471-473
    • (1999) Nat. Genet. , vol.23 , pp. 471-473
    • Manley, K.1    Shirley, T.L.2    Flaherty, L.3    Messer, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.