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Volumn 21, Issue 1, 2003, Pages 61-70

Dynamics of CAG repeat loci revealed by the analysis of their variability

Author keywords

CAG repeats; Dynamic mutation; Evolution; HD; Human molecular genetics; Mutation; Population genetics; SCA; Spinocebellar ataxia; STR dynamics; TRE; Trinucleotide repeat expansion

Indexed keywords

ADENINE; CYTOSINE; GUANINE; TRINUCLEOTIDE;

EID: 0037226761     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10151     Document Type: Article
Times cited : (27)

References (38)
  • 3
    • 0012372502 scopus 로고    scopus 로고
    • Genome versus population understanding in human genetic studies
    • Donnelly P, Foley R, editors. IOS Press: Amsterdam
    • Bertranpetit J, Calafell E 2001. Genome versus population understanding in human genetic studies. In: Donnelly P, Foley R, editors. Genes, fossils and behavior: an integrated approach. IOS Press: Amsterdam. p 49-62.
    • (2001) Genes, Fossils and Behavior: An Integrated Approach , pp. 49-62
    • Bertranpetit, J.1    Calafell, E.2
  • 4
    • 0031778070 scopus 로고    scopus 로고
    • Mutation rate in human microsatellites: Influence of the structure and length of the tandem repeat
    • Brinkmann B, Klintschar M, Neuhuber F, Huhne J, Rolf B. 1998. Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62:1408-1415.
    • (1998) Am J Hum Genet , vol.62 , pp. 1408-1415
    • Brinkmann, B.1    Klintschar, M.2    Neuhuber, F.3    Huhne, J.4    Rolf, B.5
  • 6
    • 0036578758 scopus 로고    scopus 로고
    • Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells
    • Cleary JD, Nichol K, Wang YH, Pearson CE. 2002. Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells. Nat Genet 31:37-46.
    • (2002) Nat Genet , vol.31 , pp. 37-46
    • Cleary, J.D.1    Nichol, K.2    Wang, Y.H.3    Pearson, C.E.4
  • 7
    • 0032840798 scopus 로고    scopus 로고
    • Rate and directionality of mutations and effects of allele size constraints at anonymous, gene-associated, and disease-causing trinucleotide loci
    • Deka R, Guangyun S, Smelser D, Zhong Y, Kimmel M, Chakraborty R. 1999. Rate and directionality of mutations and effects of allele size constraints at anonymous, gene-associated, and disease-causing trinucleotide loci. Mol Biol Evol 16:1166-1177.
    • (1999) Mol Biol Evol , vol.16 , pp. 1166-1177
    • Deka, R.1    Guangyun, S.2    Smelser, D.3    Zhong, Y.4    Kimmel, M.5    Chakraborty, R.6
  • 8
  • 9
    • 0034079715 scopus 로고    scopus 로고
    • Heterogeneous mutation processes in human microsatellite DNA sequences
    • Ellegren H. 2000a. Heterogeneous mutation processes in human microsatellite DNA sequences. Nat Genet 24:400-402.
    • (2000) Nat Genet , vol.24 , pp. 400-402
    • Ellegren, H.1
  • 10
    • 0034564097 scopus 로고    scopus 로고
    • Microsatellite mutations in the germline: Implications for evolutionary inference
    • Ellegren H. 2000b. Microsatellite mutations in the germline: implications for evolutionary inference. Trends Genet 16:551-558.
    • (2000) Trends Genet , vol.16 , pp. 551-558
    • Ellegren, H.1
  • 14
    • 0035715780 scopus 로고    scopus 로고
    • Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1: Implications for premenopausal breast cancer risk
    • Jernstrom H, Chu W, Vesprini D, Tao Y, Majeed N, Deal C, Pollak M, Narod SA. 2001. Genetic factors related to racial variation in plasma levels of insulin-like growth factor-1: implications for premenopausal breast cancer risk. Mol Genet Metab 72:144-154.
    • (2001) Mol Genet Metab , vol.72 , pp. 144-154
    • Jernstrom, H.1    Chu, W.2    Vesprini, D.3    Tao, Y.4    Majeed, N.5    Deal, C.6    Pollak, M.7    Narod, S.A.8
  • 19
    • 0030810204 scopus 로고    scopus 로고
    • Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK
    • Leggo J, Dalton A, Morrison PJ, Dodge A, Connarty M, Kotze MJ, Rubinsztein DC. 1997. Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J Med Genet 34:982-985.
    • (1997) J Med Genet , vol.34 , pp. 982-985
    • Leggo, J.1    Dalton, A.2    Morrison, P.J.3    Dodge, A.4    Connarty, M.5    Kotze, M.J.6    Rubinsztein, D.C.7
  • 20
    • 0033995175 scopus 로고    scopus 로고
    • Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
    • Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY. 2000. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci 3:157-163.
    • (2000) Nat Neurosci , vol.3 , pp. 157-163
    • Lin, X.1    Antalffy, B.2    Kang, D.3    Orr, H.T.4    Zoghbi, H.Y.5
  • 21
    • 0034762642 scopus 로고    scopus 로고
    • Expansion explosion: New clues to the pathogenesis of repeat expansion neurodegenerative diseases
    • Margolis RL, Ross CA. 2001. Expansion explosion: new clues to the pathogenesis of repeat expansion neurodegenerative diseases. Trends Mol Med 7:479-482.
    • (2001) Trends Mol Med , vol.7 , pp. 479-482
    • Margolis, R.L.1    Ross, C.A.2
  • 23
    • 4243341823 scopus 로고    scopus 로고
    • Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6
    • Matsuyama Z, Wakamori M, Mori Y, Kawakami H, Nakamura S, Imoto K. 1999. Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6. J Neurosci 19:RC14.
    • (1999) J Neurosci , vol.19
    • Matsuyama, Z.1    Wakamori, M.2    Mori, Y.3    Kawakami, H.4    Nakamura, S.5    Imoto, K.6
  • 25
    • 0034279182 scopus 로고    scopus 로고
    • The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes
    • Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, Charnet P, Gomez CM. 2000. The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. J Neurosci 20:6394-6403.
    • (2000) J Neurosci , vol.20 , pp. 6394-6403
    • Restituito, S.1    Thompson, R.M.2    Eliet, J.3    Raike, R.S.4    Riedl, M.5    Charnet, P.6    Gomez, C.M.7
  • 26
    • 0000621581 scopus 로고
    • Genetic evidence for a Pleistocene population explosion
    • Rogers AR. 1995. Genetic evidence for a Pleistocene population explosion. Evolution 49:608-615.
    • (1995) Evolution , vol.49 , pp. 608-615
    • Rogers, A.R.1
  • 28
    • 0034061759 scopus 로고    scopus 로고
    • Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: High frequency of SCA2 and evidence for a common founder mutation
    • Saleem Q, Choudhry S, Mukerji M, Bashyam L, Padma MV, Chakravarthy A, Maheshwari MC, Jain S, Brahmachari SK. 2000a. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet 106:179-187.
    • (2000) Hum Genet , vol.106 , pp. 179-187
    • Saleem, Q.1    Choudhry, S.2    Mukerji, M.3    Bashyam, L.4    Padma, M.V.5    Chakravarthy, A.6    Maheshwari, M.C.7    Jain, S.8    Brahmachari, S.K.9
  • 32
    • 0028564730 scopus 로고
    • DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
    • Squitieri F, Andrew SE, Goldberg YP, Kremer B, Spence N, Zeisler J, Nichol K, Theilmann J, Greenberg J, Goto J. 1994. DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet 3:2103-2114.
    • (1994) Hum Mol Genet , vol.3 , pp. 2103-2114
    • Squitieri, F.1    Andrew, S.E.2    Goldberg, Y.P.3    Kremer, B.4    Spence, N.5    Zeisler, J.6    Nichol, K.7    Theilmann, J.8    Greenberg, J.9    Goto, J.10
  • 34
    • 0033010353 scopus 로고    scopus 로고
    • Genetic association study of a polymorphic CAG repeats array of calcium-activated potassium channel (KCNN3) gene and schizophrenia among the Chinese population from Taiwan
    • Tsai MT, Shaw CK, Hsiao KJ, Chen CH. 1999. Genetic association study of a polymorphic CAG repeats array of calcium-activated potassium channel (KCNN3) gene and schizophrenia among the Chinese population from Taiwan. Mol Psychiatry 4:271-273.
    • (1999) Mol Psychiatry , vol.4 , pp. 271-273
    • Tsai, M.T.1    Shaw, C.K.2    Hsiao, K.J.3    Chen, C.H.4
  • 36
    • 0029080261 scopus 로고
    • Population genetics of trinucleotide repeat polymorphisms
    • Watkins WS, Bamshad M, Jorde LB. 1995. Population genetics of trinucleotide repeat polymorphisms. Hum Mol Genet 4:1485-1491.
    • (1995) Hum Mol Genet , vol.4 , pp. 1485-1491
    • Watkins, W.S.1    Bamshad, M.2    Jorde, L.B.3
  • 37
    • 0034007097 scopus 로고    scopus 로고
    • Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia
    • Worth PF, Houlden H, Giunti P, Davis MB, Wood NW. 2000. Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat Genet 24:214-215.
    • (2000) Nat Genet , vol.24 , pp. 214-215
    • Worth, P.F.1    Houlden, H.2    Giunti, P.3    Davis, M.B.4    Wood, N.W.5
  • 38
    • 0035168621 scopus 로고    scopus 로고
    • The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract
    • Yue S, Serra HG, Zoghbi HY, Orr HT 2001. The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Hum Mol Genet 10:25-30.
    • (2001) Hum Mol Genet , vol.10 , pp. 25-30
    • Yue, S.1    Serra, H.G.2    Zoghbi, H.Y.3    Orr, H.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.