메뉴 건너뛰기




Volumn 54, Issue 4, 2011, Pages

Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease

Author keywords

CAG repeat instability; Huntington's disease; Normal allele; Pathogenesis

Indexed keywords

DNA;

EID: 79960081472     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.04.002     Document Type: Article
Times cited : (38)

References (36)
  • 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
    • 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 1993, 72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 3
    • 1842477303 scopus 로고    scopus 로고
    • A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
    • Langbehn D.R., Brinkman R.R., Falush D., Paulsen J.S., Hayden M.R. A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin. Genet. 2004, 65:267-277.
    • (2004) Clin. Genet. , vol.65 , pp. 267-277
    • Langbehn, D.R.1    Brinkman, R.R.2    Falush, D.3    Paulsen, J.S.4    Hayden, M.R.5
  • 6
    • 0029075558 scopus 로고
    • Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes
    • Kremer B., Almqvist E., Theilmann J., Spence N., Telenius H., Goldberg Y.P., Hayden M.R. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am. J. Hum. Genet. 1995, 57:343-350.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 343-350
    • Kremer, B.1    Almqvist, E.2    Theilmann, J.3    Spence, N.4    Telenius, H.5    Goldberg, Y.P.6    Hayden, M.R.7
  • 9
    • 0027745692 scopus 로고
    • Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene
    • Zuhlke C., Riess O., Bockel B., Lange H., Thies U. Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum. Mol. Genet. 1993, 2:2063-2067.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 2063-2067
    • Zuhlke, C.1    Riess, O.2    Bockel, B.3    Lange, H.4    Thies, U.5
  • 11
    • 56049100944 scopus 로고    scopus 로고
    • Intergenerational CAG repeat instability is highly heritable in Huntington's disease
    • Aziz N.A., van Belzen M.J., Roos R.A. Intergenerational CAG repeat instability is highly heritable in Huntington's disease. J. Med. Genet. 2008, 45:766.
    • (2008) J. Med. Genet. , vol.45 , pp. 766
    • Aziz, N.A.1    van Belzen, M.J.2    Roos, R.A.3
  • 14
    • 68049113685 scopus 로고    scopus 로고
    • Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset
    • Swami M., Hendricks A.E., Gillis T., Massood T., Mysore J., Myers R.H., Wheeler V.C. Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. Hum. Mol. Genet. 2009, 18:3039-3047.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 3039-3047
    • Swami, M.1    Hendricks, A.E.2    Gillis, T.3    Massood, T.4    Mysore, J.5    Myers, R.H.6    Wheeler, V.C.7
  • 15
    • 0035570912 scopus 로고    scopus 로고
    • Circannual variation in human semen parameters
    • Andolz P., Bielsa M.A., Andolz A. Circannual variation in human semen parameters. Int. J. Androl. 2001, 24:266-271.
    • (2001) Int. J. Androl. , vol.24 , pp. 266-271
    • Andolz, P.1    Bielsa, M.A.2    Andolz, A.3
  • 16
    • 1842427738 scopus 로고    scopus 로고
    • The ovopathy concept for explaining the secondary sex ratio
    • Jongbloet P.H. The ovopathy concept for explaining the secondary sex ratio. Hum. Reprod. 2004, 19:1036-1037.
    • (2004) Hum. Reprod. , vol.19 , pp. 1036-1037
    • Jongbloet, P.H.1
  • 18
    • 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., Barron L.H., 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 1993, 7:235-239.
    • (1993) Mol. Cell Probes , vol.7 , pp. 235-239
    • Warner, J.P.1    Barron, L.H.2    Brock, D.J.3
  • 19
    • 84918743166 scopus 로고
    • Influential observations in linear regression
    • Cook R.D. Influential observations in linear regression. J. Am. Stat. Assoc. 1979, 74:169-174.
    • (1979) J. Am. Stat. Assoc. , vol.74 , pp. 169-174
    • Cook, R.D.1
  • 21
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • Chung M.Y., Ranum L.P., Duvick L.A., Servadio A., Zoghbi H.Y., Orr H.T. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat. Genet. 1993, 5:254-258.
    • (1993) Nat. Genet. , vol.5 , pp. 254-258
    • Chung, M.Y.1    Ranum, L.P.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 22
    • 0344872618 scopus 로고    scopus 로고
    • Slipping while sleeping? Trinucleotide repeat expansions in germ cells
    • Pearson C.E. Slipping while sleeping? Trinucleotide repeat expansions in germ cells. Trends Mol. Med. 2003, 9:490-495.
    • (2003) Trends Mol. Med. , vol.9 , pp. 490-495
    • Pearson, C.E.1
  • 23
    • 34250878426 scopus 로고    scopus 로고
    • Expandable DNA repeats and human disease
    • Mirkin S.M. Expandable DNA repeats and human disease. Nature 2007, 447:932-940.
    • (2007) Nature , vol.447 , pp. 932-940
    • Mirkin, S.M.1
  • 24
    • 0033514926 scopus 로고    scopus 로고
    • DNA secondary structure: a common and causative factor for expansion in human disease
    • McMurray C.T. DNA secondary structure: a common and causative factor for expansion in human disease. Proc. Natl. Acad. Sci. U.S.A 1999, 96:1823-1825.
    • (1999) Proc. Natl. Acad. Sci. U.S.A , vol.96 , pp. 1823-1825
    • McMurray, C.T.1
  • 25
    • 25844438495 scopus 로고    scopus 로고
    • Repeat instability: mechanisms of dynamic mutations
    • Pearson C.E., Nichol E.K., Cleary J.D. Repeat instability: mechanisms of dynamic mutations. Nat. Rev. Genet. 2005, 6:729-742.
    • (2005) Nat. Rev. Genet. , vol.6 , pp. 729-742
    • Pearson, C.E.1    Nichol, E.K.2    Cleary, J.D.3
  • 26
    • 77958109197 scopus 로고    scopus 로고
    • Mechanisms of trinucleotide repeat instability during human development
    • McMurray C.T. Mechanisms of trinucleotide repeat instability during human development. Nat. Rev. Genet. 2010, 11:786-799.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 786-799
    • McMurray, C.T.1
  • 27
    • 36549070576 scopus 로고    scopus 로고
    • Sex: differences in mutation, recombination, selection, gene flow, and genetic drift
    • Hedrick P.W. Sex: differences in mutation, recombination, selection, gene flow, and genetic drift. Evolution 2007, 61:2750-2771.
    • (2007) Evolution , vol.61 , pp. 2750-2771
    • Hedrick, P.W.1
  • 30
    • 0033551777 scopus 로고    scopus 로고
    • Genetic instabilities in (CTG.CAG) repeats occur by recombination
    • Jakupciak J.P., Wells R.D. Genetic instabilities in (CTG.CAG) repeats occur by recombination. J. Biol. Chem. 1999, 274:23468-23479.
    • (1999) J. Biol. Chem. , vol.274 , pp. 23468-23479
    • Jakupciak, J.P.1    Wells, R.D.2
  • 32
    • 0037405845 scopus 로고    scopus 로고
    • Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells
    • Meservy J.L., Sargent R.G., Iyer R.R., Chan F., McKenzie G.J., Wells R.D., Wilson J.H. Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells. Mol. Cell Biol. 2003, 23:3152-3162.
    • (2003) Mol. Cell Biol. , vol.23 , pp. 3152-3162
    • Meservy, J.L.1    Sargent, R.G.2    Iyer, R.R.3    Chan, F.4    McKenzie, G.J.5    Wells, R.D.6    Wilson, J.H.7
  • 35
    • 33748329475 scopus 로고    scopus 로고
    • Both conserved and non-conserved regions of Spo11 are essential for meiotic recombination initiation in yeast
    • Nag D.K., Pata J.D., Sironi M., Flood D.R., Hart A.M. Both conserved and non-conserved regions of Spo11 are essential for meiotic recombination initiation in yeast. Mol. Genet. Genomics 2006, 276:313-321.
    • (2006) Mol. Genet. Genomics , vol.276 , pp. 313-321
    • Nag, D.K.1    Pata, J.D.2    Sironi, M.3    Flood, D.R.4    Hart, A.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.