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Volumn 8, Issue , 2007, Pages

CAG-encoded polyglutamine length polymorphism in the human genome

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ATAXIN 1; ATAXIN 3; ATAXIN 7; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; CYSTEINE; DNA; GLUTAMINE; GLYCINE; HUNTINGTIN; POLYGLUTAMINE; TATA BINDING PROTEIN; VOLTAGE GATED CALCIUM CHANNEL; PEPTIDE;

EID: 34347242503     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-8-126     Document Type: Article
Times cited : (67)

References (102)
  • 1
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • 10.1016/0092-8674(93)90585-E 8458085 The Huntington's Disease Collaborative Research Group
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group Cell 1993 72 971 983 10.1016/ 0092-8674(93)90585-E 8458085
    • (1993) Cell , vol.72 , pp. 971-983
  • 4
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • 10.1038/352077a0 2062380
    • La Spada AR Wilson EM Lubahn DB Harding AE Fischbeck KH Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy Nature 1991 352 77-79 10.1038/352077a0 2062380
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 5
    • 0031012399 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
    • 10.1038/ng0197-62 8988170
    • Zhuchenko O Bailey J Bonnen P Ashizawa T Stockton DW Amos C Dobyns WB Subramony SH Zoghbi HY Lee CC Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel Nat Genet 1997 15 62-69 10.1038/ ng0197-62 8988170
    • (1997) Nat Genet , vol.15 , pp. 62-69
    • Zhuchenko, O.1    Bailey, J.2    Bonnen, P.3    Ashizawa, T.4    Stockton, D.W.5    Amos, C.6    Dobyns, W.B.7    Subramony, S.H.8    Zoghbi, H.Y.9    Lee, C.C.10
  • 6
    • 0035393427 scopus 로고    scopus 로고
    • SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
    • 10.1093/hmg/10.14.1441 11448935
    • Nakamura K Jeong SY Uchihara T Anno M Nagashima K Nagashima T Ikeda S Tsuji S Kanazawa I SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein Hum Mol Genet 2001 10 1441-1448 10.1093/hmg/10.14.1441 11448935
    • (2001) Hum Mol Genet , vol.10 , pp. 1441-1448
    • Nakamura, K.1    Jeong, S.Y.2    Uchihara, T.3    Anno, M.4    Nagashima, K.5    Nagashima, T.6    Ikeda, S.7    Tsuji, S.8    Kanazawa, I.9
  • 13
    • 0242608989 scopus 로고    scopus 로고
    • Repeat expansion and autosomal dominant neurodegenerative disorders: Consensus and controversy
    • 10.1017/S1462399403006598 14585172
    • Rudnicki DD Margolis RL Repeat expansion and autosomal dominant neurodegenerative disorders: Consensus and controversy Expert Rev Mol Med 2003 2003 1-24 10.1017/S1462399403006598 14585172
    • (2003) Expert Rev Mol Med , vol.2003 , pp. 1-24
    • Rudnicki, D.D.1    Margolis, R.L.2
  • 14
    • 0346494934 scopus 로고    scopus 로고
    • Genew: The Human Gene Nomenclature Database, 2004 updates
    • 308806 14681406 10.1093/nar/gkh072
    • Wain HM Lush MJ Ducluzeau F Khodiyar VK Povey S Genew: The Human Gene Nomenclature Database, 2004 updates Nucleic Acids Res 2004 32 D255-7 308806 14681406 10.1093/nar/gkh072
    • (2004) Nucleic Acids Res , vol.32
    • Wain, H.M.1    Lush, M.J.2    Ducluzeau, F.3    Khodiyar, V.K.4    Povey, S.5
  • 16
    • 0027297703 scopus 로고
    • Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms
    • 10.1006/geno.1993.1232 8325628
    • Li SH McInnis MG Margolis RL Antonarakis SE Ross CA Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms Genomics 1993 16 572-579 10.1006/geno.1993.1232 8325628
    • (1993) Genomics , vol.16 , pp. 572-579
    • Li, S.H.1    McInnis, M.G.2    Margolis, R.L.3    Antonarakis, S.E.4    Ross, C.A.5
  • 18
    • 0031466935 scopus 로고    scopus 로고
    • Mapping and characterization of novel (CAG)n repeat cDNAs from adult human brain derived by the oligo capture method
    • 10.1006/geno.1997.5044 9417904
    • Reddy PH Stockburger E Gillevet P Tagle DA Mapping and characterization of novel (CAG)n repeat cDNAs from adult human brain derived by the oligo capture method Genomics 1997 46 174-182 10.1006/geno.1997.5044 9417904
    • (1997) Genomics , vol.46 , pp. 174-182
    • Reddy, P.H.1    Stockburger, E.2    Gillevet, P.3    Tagle, D.A.4
  • 20
    • 0027256423 scopus 로고
    • Direct detection of novel expanded trinucleotide repeats in the human genome
    • 10.1038/ng0693-135 8348150
    • Schalling M Hudson TJ Buetow KH Housman DE Direct detection of novel expanded trinucleotide repeats in the human genome Nat Genet 1993 4 135-139 10.1038/ng0693-135 8348150
    • (1993) Nat Genet , vol.4 , pp. 135-139
    • Schalling, M.1    Hudson, T.J.2    Buetow, K.H.3    Housman, D.E.4
  • 21
    • 0037039436 scopus 로고    scopus 로고
    • Amino acid runs in eukaryotic proteomes and disease associations
    • 117561 11782551 10.1073/pnas.012608599
    • Karlin S Brocchieri L Bergman A Mrazek J Gentles AJ Amino acid runs in eukaryotic proteomes and disease associations Proc Natl Acad Sci U S A 2002 99 333-338 117561 11782551 10.1073/pnas.012608599
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 333-338
    • Karlin, S.1    Brocchieri, L.2    Bergman, A.3    Mrazek, J.4    Gentles, A.J.5
  • 22
    • 0038278603 scopus 로고    scopus 로고
    • An exhaustive DNA micro-satellite map of the human genome using high performance computing
    • 10.1016/S0888-7543(03)00076-4 12809672
    • Collins JR Stephens RM Gold B Long B Dean M Burt SK An exhaustive DNA micro-satellite map of the human genome using high performance computing Genomics 2003 82 10-19 10.1016/S0888-7543(03)00076-4 12809672
    • (2003) Genomics , vol.82 , pp. 10-19
    • Collins, J.R.1    Stephens, R.M.2    Gold, B.3    Long, B.4    Dean, M.5    Burt, S.K.6
  • 23
    • 0042594452 scopus 로고    scopus 로고
    • Triplet repeats in human genome: Distribution and their association with genes and other genomic regions
    • 10.1093/bioinformatics/btg029 12651711
    • Subramanian S Madgula VM George R Mishra RK Pandit MW Kumar CS Singh L Triplet repeats in human genome: Distribution and their association with genes and other genomic regions Bioinformatics 2003 19 549-552 10.1093/ bioinformatics/btg029 12651711
    • (2003) Bioinformatics , vol.19 , pp. 549-552
    • Subramanian, S.1    Madgula, V.M.2    George, R.3    Mishra, R.K.4    Pandit, M.W.5    Kumar, C.S.6    Singh, L.7
  • 25
    • 0032997193 scopus 로고    scopus 로고
    • Polymorphism of homopolymeric glutamines in coactivators for nuclear hormone receptors
    • 10460012
    • Hayashi Y Yamamoto M Ohmori S Kikumori T Imai T Funahashi H Seo H Polymorphism of homopolymeric glutamines in coactivators for nuclear hormone receptors Endocr J 1999 46 279-284 10460012
    • (1999) Endocr J , vol.46 , pp. 279-284
    • Hayashi, Y.1    Yamamoto, M.2    Ohmori, S.3    Kikumori, T.4    Imai, T.5    Funahashi, H.6    Seo, H.7
  • 26
    • 0037226761 scopus 로고    scopus 로고
    • Dynamics of CAG repeat loci revealed by the analysis of their variability
    • 10.1002/humu.10151 12497632
    • Andres AM Lao O Soldevila M Calafell F Bertranpetit J Dynamics of CAG repeat loci revealed by the analysis of their variability Hum Mutat 2003 21 61-70 10.1002/humu.10151 12497632
    • (2003) Hum Mutat , vol.21 , pp. 61-70
    • Andres, A.M.1    Lao, O.2    Soldevila, M.3    Calafell, F.4    Bertranpetit, J.5
  • 27
    • 0026551039 scopus 로고
    • Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups
    • 10.1016/0888-7543(92)90371-X 1740333
    • Edwards A Hammond HA Jin L Caskey CT Chakraborty R Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups Genomics 1992 12 241-253 10.1016/0888-7543(92)90371-X 1740333
    • (1992) Genomics , vol.12 , pp. 241-253
    • Edwards, A.1    Hammond, H.A.2    Jin, L.3    Caskey, C.T.4    Chakraborty, R.5
  • 28
    • 15244348259 scopus 로고    scopus 로고
    • SMARCA2 and THAP11: Potential candidates for polyglutamine disorders as evidenced from polymorphism and protein-folding simulation studies
    • 10.1007/s10038-004-0194-8 15368101
    • Pandey N Mittal U Srivastava AK Mukerji M SMARCA2 and THAP11: Potential candidates for polyglutamine disorders as evidenced from polymorphism and protein-folding simulation studies J Hum Genet 2004 49 596-602 10.1007/s10038-004-0194-8 15368101
    • (2004) J Hum Genet , vol.49 , pp. 596-602
    • Pandey, N.1    Mittal, U.2    Srivastava, A.K.3    Mukerji, M.4
  • 29
    • 0032731437 scopus 로고    scopus 로고
    • Conservation of polyglutamine tract size between mice and humans depends on codon interruption
    • 10555295
    • Alba MM Santibanez-Koref MF Hancock JM Conservation of polyglutamine tract size between mice and humans depends on codon interruption Mol Biol Evol 1999 16 1641-1644 10555295
    • (1999) Mol Biol Evol , vol.16 , pp. 1641-1644
    • Alba, M.M.1    Santibanez-Koref, M.F.2    Hancock, J.M.3
  • 30
    • 0035020731 scopus 로고    scopus 로고
    • The comparative genomics of polyglutamine repeats: Extreme differences in the codon organization of repeat-encoding regions between mammals and Drosophila
    • 11428462
    • Alba MM Santibanez-Koref MF Hancock JM The comparative genomics of polyglutamine repeats: Extreme differences in the codon organization of repeat-encoding regions between mammals and Drosophila J Mol Evol 2001 52 249-259 11428462
    • (2001) J Mol Evol , vol.52 , pp. 249-259
    • Alba, M.M.1    Santibanez-Koref, M.F.2    Hancock, J.M.3
  • 31
    • 0023256559 scopus 로고
    • Slipped-strand mispairing: A major mechanism for DNA sequence evolution
    • 3328815
    • Levinson G Gutman GA Slipped-strand mispairing: A major mechanism for DNA sequence evolution Mol Biol Evol 1987 4 203-221 3328815
    • (1987) Mol Biol Evol , vol.4 , pp. 203-221
    • Levinson, G.1    Gutman, G.A.2
  • 32
    • 25844438495 scopus 로고    scopus 로고
    • Repeat instability: Mechanisms of dynamic mutations
    • 10.1038/nrg1689 16205713
    • Pearson CE Edamura KN Cleary JD Repeat instability: Mechanisms of dynamic mutations Nat Rev Genet 2005 6 729-742 10.1038/nrg1689 16205713
    • (2005) Nat Rev Genet , vol.6 , pp. 729-742
    • Pearson, C.E.1    Edamura, K.N.2    Cleary, J.D.3
  • 33
    • 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
    • 10.1093/hmg/3.12.2103 7881406
    • Squitieri F Andrew SE Goldberg YP Kremer B Spence N Zeisler J Nichol K Theilmann J Greenberg J Goto J 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 1994 3 2103-2114 10.1093/hmg/3.12.2103 7881406
    • (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
  • 36
    • 0031446047 scopus 로고    scopus 로고
    • Population variation analysis at nine loci containing expressed trinucleotide repeats
    • 10.1017/S0003480097006489 9459004
    • Jodice C Giovannone B Calabresi V Bellocchi M Terrenato L Novelletto A Population variation analysis at nine loci containing expressed trinucleotide repeats Ann Hum Genet 1997 61 425-438 10.1017/ S0003480097006489 9459004
    • (1997) Ann Hum Genet , vol.61 , pp. 425-438
    • Jodice, C.1    Giovannone, B.2    Calabresi, V.3    Bellocchi, M.4    Terrenato, L.5    Novelletto, A.6
  • 37
    • 4143125649 scopus 로고    scopus 로고
    • Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability
    • 10.1002/humu.20075 15300851
    • Sobczak K Krzyzosiak WJ Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability Hum Mutat 2004 24 236-247 10.1002/humu.20075 15300851
    • (2004) Hum Mutat , vol.24 , pp. 236-247
    • Sobczak, K.1    Krzyzosiak, W.J.2
  • 38
    • 34347266410 scopus 로고    scopus 로고
    • GeneReviews at GeneTests: Medical Genetics Information Resource
    • GeneReviews at GeneTests: Medical Genetics Information Resource http://www.genetests.org
  • 39
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • 10.1038/ng1193-254 8275090
    • Chung MY Ranum LP Duvick LA Servadio A Zoghbi HY Orr HT Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I Nat Genet 1993 5 254-258 10.1038/ ng1193-254 8275090
    • (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
  • 41
    • 33745012569 scopus 로고    scopus 로고
    • Mutation patterns of amino acid tandem repeats in the human proteome
    • 1557989 16640792 10.1186/gb-2006-7-4-r33
    • Mularoni L Guigo R Alba MM Mutation patterns of amino acid tandem repeats in the human proteome Genome Biol 2006 7 R33 1557989 16640792 10.1186/gb-2006-7-4-r33
    • (2006) Genome Biol , vol.7
    • Mularoni, L.1    Guigo, R.2    Alba, M.M.3
  • 43
    • 0024396320 scopus 로고
    • Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins
    • 10.1126/science.2667136 2667136
    • Mitchell PJ Tjian R Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins Science 1989 245 371-378 10.1126/ science.2667136 2667136
    • (1989) Science , vol.245 , pp. 371-378
    • Mitchell, P.J.1    Tjian, R.2
  • 44
    • 51249168834 scopus 로고
    • Analysis of CAG/CTG triplet repeats in the human genome: Implication in transcription factor gene regulation
    • Bhandari R Brahmachari SK Analysis of CAG/CTG triplet repeats in the human genome: Implication in transcription factor gene regulation Journal of biosciences 1995 20 613-627
    • (1995) Journal of Biosciences , vol.20 , pp. 613-627
    • Bhandari, R.1    Brahmachari, S.K.2
  • 45
    • 0029983147 scopus 로고    scopus 로고
    • Trinucleotide repeats and long homopeptides in genes and proteins associated with nervous system disease and development
    • 39980 8643671 10.1073/pnas.93.4.1560
    • Karlin S Burge C Trinucleotide repeats and long homopeptides in genes and proteins associated with nervous system disease and development Proc Natl Acad Sci U S A 1996 93 1560-1565 39980 8643671 10.1073/ pnas.93.4.1560
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 1560-1565
    • Karlin, S.1    Burge, C.2
  • 46
    • 0033280242 scopus 로고    scopus 로고
    • Amino acid reiterations in yeast are overrepresented in particular classes of proteins and show evidence of a slippage-like mutational process
    • 10.1007/PL00006601 10594180
    • Alba MM Santibanez-Koref MF Hancock JM Amino acid reiterations in yeast are overrepresented in particular classes of proteins and show evidence of a slippage-like mutational process J Mol Evol 1999 49 789-797 10.1007/ PL00006601 10594180
    • (1999) J Mol Evol , vol.49 , pp. 789-797
    • Alba, M.M.1    Santibanez-Koref, M.F.2    Hancock, J.M.3
  • 47
    • 1842717952 scopus 로고    scopus 로고
    • Comparative analysis of amino acid repeats in rodents and humans
    • 383298 15059995 10.1101/gr.1925704
    • Alba MM Guigo R Comparative analysis of amino acid repeats in rodents and humans Genome Res 2004 14 549-554 383298 15059995 10.1101/gr.1925704
    • (2004) Genome Res , vol.14 , pp. 549-554
    • Alba, M.M.1    Guigo, R.2
  • 48
    • 17844383699 scopus 로고    scopus 로고
    • Functional insights from the distribution and role of homopeptide repeat-containing proteins
    • 1074368 15805494 10.1101/gr.3096505
    • Faux NG Bottomley SP Lesk AM Irving JA Morrison JR de la Banda MG Whisstock JC Functional insights from the distribution and role of homopeptide repeat-containing proteins Genome Res 2005 15 537-551 1074368 15805494 10.1101/gr.3096505
    • (2005) Genome Res , vol.15 , pp. 537-551
    • Faux, N.G.1    Bottomley, S.P.2    Lesk, A.M.3    Irving, J.A.4    Morrison, J.R.5    de la Banda, M.G.6    Whisstock, J.C.7
  • 50
    • 0037150524 scopus 로고    scopus 로고
    • Neurodegeneration. A glutamine-rich trail leads to transcription factors
    • 10.1126/science.1073845 12077389
    • Freiman RN Tjian R Neurodegeneration. A glutamine-rich trail leads to transcription factors Science 2002 296 2149-2150 10.1126/science.1073845 12077389
    • (2002) Science , vol.296 , pp. 2149-2150
    • Freiman, R.N.1    Tjian, R.2
  • 51
    • 20444486153 scopus 로고    scopus 로고
    • TATA-binding protein in neurodegenerative disease
    • 10.1016/j.neuroscience.2005.03.024 15916858
    • van Roon-Mom WM Reid SJ Faull RL Snell RG TATA-binding protein in neurodegenerative disease Neuroscience 2005 133 863-872 10.1016/ j.neuroscience.2005.03.024 15916858
    • (2005) Neuroscience , vol.133 , pp. 863-872
    • van Roon-Mom, W.M.1    Reid, S.J.2    Faull, R.L.3    Snell, R.G.4
  • 53
    • 20844444637 scopus 로고    scopus 로고
    • Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration
    • 1150862 15932940 10.1073/pnas.0503505102
    • Palhan VB Chen S Peng GH Tjernberg A Gamper AM Fan Y Chait BT La Spada AR Roeder RG Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration Proc Natl Acad Sci U S A 2005 102 8472-8477 1150862 15932940 10.1073/ pnas.0503505102
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 8472-8477
    • Palhan, V.B.1    Chen, S.2    Peng, G.H.3    Tjernberg, A.4    Gamper, A.M.5    Fan, Y.6    Chait, B.T.7    La Spada, A.R.8    Roeder, R.G.9
  • 54
    • 20844441094 scopus 로고    scopus 로고
    • Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity
    • 1150861 15932941 10.1073/pnas.0503493102
    • McMahon SJ Pray-Grant MG Schieltz D Yates JR 3rd Grant PA Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity Proc Natl Acad Sci U S A 2005 102 8478-8482 1150861 15932941 10.1073/pnas.0503493102
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 8478-8482
    • McMahon, S.J.1    Pray-Grant, M.G.2    Schieltz, D.3    Yates III, J.R.4    Grant, P.A.5
  • 55
    • 29244462838 scopus 로고    scopus 로고
    • In vitro analysis of huntingtin-mediated transcriptional repression reveals multiple transcription factor targets
    • 10.1016/j.cell.2005.10.030 16377565
    • Zhai W Jeong H Cui L Krainc D Tjian R In vitro analysis of huntingtin-mediated transcriptional repression reveals multiple transcription factor targets Cell 2005 123 1241-1253 10.1016/ j.cell.2005.10.030 16377565
    • (2005) Cell , vol.123 , pp. 1241-1253
    • Zhai, W.1    Jeong, H.2    Cui, L.3    Krainc, D.4    Tjian, R.5
  • 56
    • 12344317072 scopus 로고    scopus 로고
    • An integrative approach to gain insights into the cellular function of human ataxin-2
    • 10.1016/j.jmb.2004.11.024 15663938
    • Ralser M Albrecht M Nonhoff U Lengauer T Lehrach H Krobitsch S An integrative approach to gain insights into the cellular function of human ataxin-2 J Mol Biol 2005 346 203-214 10.1016/j.jmb.2004.11.024 15663938
    • (2005) J Mol Biol , vol.346 , pp. 203-214
    • Ralser, M.1    Albrecht, M.2    Nonhoff, U.3    Lengauer, T.4    Lehrach, H.5    Krobitsch, S.6
  • 64
    • 0347122080 scopus 로고    scopus 로고
    • Application of eVOC: Controlled vocabularies for unifying gene expression data
    • 10.1016/j.crvi.2003.09.030 14744118
    • Hide W Smedley D McCarthy M Kelso J Application of eVOC: Controlled vocabularies for unifying gene expression data C R Biol 2003 326 1089-1096 10.1016/j.crvi.2003.09.030 14744118
    • (2003) C R Biol , vol.326 , pp. 1089-1096
    • Hide, W.1    Smedley, D.2    McCarthy, M.3    Kelso, J.4
  • 66
    • 0003929580 scopus 로고    scopus 로고
    • GeneCards: Encyclopedia for genes, proteins and diseases
    • Rebhan M Chalifa-Caspi V Prilusky J GeneCards: Encyclopedia for genes, proteins and diseases http://www.genecards.org
    • Rebhan, M.1    Chalifa-Caspi, V.2    Prilusky, J.3
  • 68
    • 84870438764 scopus 로고    scopus 로고
    • Gene Ontology
    • Gene Ontology http://www.geneontology.org
  • 70
    • 14044276904 scopus 로고    scopus 로고
    • The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population
    • 10.1111/j.1600-0404.2005.00349.x 15691283
    • Juvonen V Hietala M Kairisto V Savontaus ML The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population Acta Neurol Scand 2005 111 154-162 10.1111/ j.1600-0404.2005.00349.x 15691283
    • (2005) Acta Neurol Scand , vol.111 , pp. 154-162
    • Juvonen, V.1    Hietala, M.2    Kairisto, V.3    Savontaus, M.L.4
  • 72
    • 0035076389 scopus 로고    scopus 로고
    • Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
    • 10.1038/sj.ejhg.5200617 11313753
    • Zuhlke C Hellenbroich Y Dalski A Kononowa N Hagenah J Vieregge P Riess O Klein C Schwinger E Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia Eur J Hum Genet 2001 9 160-164 10.1038/sj.ejhg.5200617 11313753
    • (2001) Eur J Hum Genet , vol.9 , pp. 160-164
    • Zuhlke, C.1    Hellenbroich, Y.2    Dalski, A.3    Kononowa, N.4    Hagenah, J.5    Vieregge, P.6    Riess, O.7    Klein, C.8    Schwinger, E.9
  • 73
    • 0036705625 scopus 로고    scopus 로고
    • FOXP2: Novel exons, splice variants, and CAG repeat length stability
    • 10.1007/s00439-002-0768-5 12189486
    • Bruce HA Margolis RL FOXP2: Novel exons, splice variants, and CAG repeat length stability Hum Genet 2002 111 136-144 10.1007/s00439-002-0768-5 12189486
    • (2002) Hum Genet , vol.111 , pp. 136-144
    • Bruce, H.A.1    Margolis, R.L.2
  • 74
    • 1642544654 scopus 로고    scopus 로고
    • Somatic instability of the DNA sequences encoding the polymorphic polyglutamine tract of the AIB1 gene
    • 10.1136/jmg.40.12.885 14684685
    • Dai P Wong LJ Somatic instability of the DNA sequences encoding the polymorphic polyglutamine tract of the AIB1 gene J Med Genet 2003 40 885-890 10.1136/jmg.40.12.885 14684685
    • (2003) J Med Genet , vol.40 , pp. 885-890
    • Dai, P.1    Wong, L.J.2
  • 77
    • 0034797014 scopus 로고    scopus 로고
    • Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia
    • 10.1001/archneur.58.10.1649 11594924
    • Figueroa KP Chan P Schols L Tanner C Riess O Perlman SL Geschwind DH Pulst SM Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia Arch Neurol 2001 58 1649-1653 10.1001/archneur.58.10.1649 11594924
    • (2001) Arch Neurol , vol.58 , pp. 1649-1653
    • Figueroa, K.P.1    Chan, P.2    Schols, L.3    Tanner, C.4    Riess, O.5    Perlman, S.L.6    Geschwind, D.H.7    Pulst, S.M.8
  • 81
    • 0034984834 scopus 로고    scopus 로고
    • A role for selection in regulating the evolutionary emergence of disease-causing and other coding CAG repeats in humans and mice
    • 11371590
    • Hancock JM Worthey EA Santibanez-Koref MF A role for selection in regulating the evolutionary emergence of disease-causing and other coding CAG repeats in humans and mice Mol Biol Evol 2001 18 1014-1023 11371590
    • (2001) Mol Biol Evol , vol.18 , pp. 1014-1023
    • Hancock, J.M.1    Worthey, E.A.2    Santibanez-Koref, M.F.3
  • 82
    • 0025157834 scopus 로고
    • Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms
    • 10.1016/0888-7543(90)90195-Z 1974878
    • Weber JL Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms Genomics 1990 7 524-530 10.1016/0888-7543(90)90195-Z 1974878
    • (1990) Genomics , vol.7 , pp. 524-530
    • Weber, J.L.1
  • 83
    • 0031778070 scopus 로고    scopus 로고
    • Mutation rate in human microsatellites: Influence of the structure and length of the tandem repeat
    • 1377148 9585597 10.1086/301869
    • Brinkmann B Klintschar M Neuhuber F Huhne J Rolf B Mutation rate in human microsatellites: Influence of the structure and length of the tandem repeat Am J Hum Genet 1998 62 1408-1415 1377148 9585597 10.1086/ 301869
    • (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
  • 84
    • 0030908252 scopus 로고    scopus 로고
    • Stabilization of microsatellite sequences by variant repeats in the yeast Saccharomyces cerevisiae
    • 1207991 9178000
    • Petes TD Greenwell PW Dominska M Stabilization of microsatellite sequences by variant repeats in the yeast Saccharomyces cerevisiae Genetics 1997 146 491-498 1207991 9178000
    • (1997) Genetics , vol.146 , pp. 491-498
    • Petes, T.D.1    Greenwell, P.W.2    Dominska, M.3
  • 85
    • 3042561985 scopus 로고    scopus 로고
    • Molecular architecture of CAG repeats in human disease related transcripts
    • 10.1016/j.jmb.2004.05.021 15223312
    • Michlewski G Krzyzosiak WJ Molecular architecture of CAG repeats in human disease related transcripts J Mol Biol 2004 340 665-679 10.1016/ j.jmb.2004.05.021 15223312
    • (2004) J Mol Biol , vol.340 , pp. 665-679
    • Michlewski, G.1    Krzyzosiak, W.J.2
  • 86
    • 0042759661 scopus 로고    scopus 로고
    • The contribution of cis-elements to disease-associated repeat instability: Clinical and experimental evidence
    • 10.1159/000072837 14526163
    • Cleary JD Pearson CE The contribution of cis-elements to disease-associated repeat instability: Clinical and experimental evidence Cytogenet Genome Res 2003 100 25-55 10.1159/000072837 14526163
    • (2003) Cytogenet Genome Res , vol.100 , pp. 25-55
    • Cleary, J.D.1    Pearson, C.E.2
  • 87
    • 17644375808 scopus 로고    scopus 로고
    • Replication fork dynamics and dynamic mutations: The fork-shift model of repeat instability
    • 10.1016/j.tig.2005.03.008 15851063
    • Cleary JD Pearson CE Replication fork dynamics and dynamic mutations: the fork-shift model of repeat instability Trends Genet 2005 21 272-280 10.1016/j.tig.2005.03.008 15851063
    • (2005) Trends Genet , vol.21 , pp. 272-280
    • Cleary, J.D.1    Pearson, C.E.2
  • 88
    • 14244266721 scopus 로고    scopus 로고
    • Effect of CAT or AGG interruptions and CpG methylation on nucleosome assembly upon trinucleotide repeats on spinocerebellar ataxia, type 1 and fragile X syndrome
    • 10.1074/jbc.M413239200 15574425
    • Mulvihill DJ Edamura KN Hagerman KA Pearson CE Wang YH Effect of CAT or AGG interruptions and CpG methylation on nucleosome assembly upon trinucleotide repeats on spinocerebellar ataxia, type 1 and fragile X syndrome J Biol Chem 2005 280 4498-4503 10.1074/jbc.M413239200 15574425
    • (2005) J Biol Chem , vol.280 , pp. 4498-4503
    • Mulvihill, D.J.1    Edamura, K.N.2    Hagerman, K.A.3    Pearson, C.E.4    Wang, Y.H.5
  • 93
    • 0033555906 scopus 로고    scopus 로고
    • Tandem repeats finder: A program to analyze DNA sequences
    • 148217 9862982 10.1093/nar/27.2.573
    • Benson G Tandem repeats finder: A program to analyze DNA sequences Nucl Acids Res 1999 27 573-580 148217 9862982 10.1093/nar/27.2.573
    • (1999) Nucl Acids Res , vol.27 , pp. 573-580
    • Benson, G.1
  • 94
    • 0029117163 scopus 로고
    • Statistical significance of sequence patterns in proteins
    • 10.1016/0959-440X(95)80098-0 7583634
    • Karlin S Statistical significance of sequence patterns in proteins Curr Opin Struct Biol 1995 5 360-371 10.1016/0959-440X(95)80098-0 7583634
    • (1995) Curr Opin Struct Biol , vol.5 , pp. 360-371
    • Karlin, S.1
  • 95
    • 0038364021 scopus 로고    scopus 로고
    • Integration of the cytogenetic map with the draft human genome sequence
    • 10.1093/hmg/ddg113 12700172
    • Furey TS Haussler D Integration of the cytogenetic map with the draft human genome sequence Hum Mol Genet 2003 12 1037-1044 10.1093/hmg/ddg113 12700172
    • (2003) Hum Mol Genet , vol.12 , pp. 1037-1044
    • Furey, T.S.1    Haussler, D.2
  • 96
    • 34347232963 scopus 로고    scopus 로고
    • HUGO Gene Nomenclature Committee
    • HUGO Gene Nomenclature Committee http://www.gene.ucl.ac.uk/nomenclature
  • 97
    • 34347255590 scopus 로고    scopus 로고
    • Coriell Cell Repository
    • Coriell Cell Repository http://coriell.umdnj.edu
  • 98
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • 10547847
    • Rozen S Skaletsky H Primer3 on the WWW for general users and for biologist programmers Methods Mol Biol 2000 132 365-386 10547847
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 99
    • 0001506104 scopus 로고    scopus 로고
    • Modulation of non-templated nucleotide addition by Taq DNA polymerase: Primer modifications that facilitate genotyping
    • 1004-1006 1008-10 8780871
    • Brownstein MJ Carpten JD Smith JR Modulation of non-templated nucleotide addition by Taq DNA polymerase: Primer modifications that facilitate genotyping Biotechniques 1996 20 1004-6, 1008-10 8780871
    • (1996) Biotechniques , vol.20
    • Brownstein, M.J.1    Carpten, J.D.2    Smith, J.R.3
  • 100
    • 0029949356 scopus 로고    scopus 로고
    • PicoGreen quantitation of DNA: Effective evaluation of samples pre- or post-PCR
    • 145983 8692708 10.1093/nar/24.13.2623
    • Ahn SJ Costa J Emanuel JR PicoGreen quantitation of DNA: Effective evaluation of samples pre- or post-PCR Nucleic Acids Res 1996 24 2623-2625 145983 8692708 10.1093/nar/24.13.2623
    • (1996) Nucleic Acids Res , vol.24 , pp. 2623-2625
    • Ahn, S.J.1    Costa, J.2    Emanuel, J.R.3
  • 101
    • 0004031293 scopus 로고
    • Introduction to the theory of statistics
    • New York, McGraw-Hill
    • Mood AM Introduction to the theory of statistics New York, McGraw-Hill 1974 516-517
    • (1974) , pp. 516-517
    • Mood, A.M.1
  • 102
    • 0242490780 scopus 로고    scopus 로고
    • Cytoscape: A software environment for integrated models of biomolecular interaction networks
    • 403769 14597658 10.1101/gr.1239303
    • Shannon P Markiel A Ozier O Baliga NS Wang JT Ramage D Amin N Schwikowski B Ideker T Cytoscape: A software environment for integrated models of biomolecular interaction networks Genome Res 2003 13 2498-2504 403769 14597658 10.1101/gr.1239303
    • (2003) Genome Res , vol.13 , pp. 2498-2504
    • Shannon, P.1    Markiel, A.2    Ozier, O.3    Baliga, N.S.4    Wang, J.T.5    Ramage, D.6    Amin, N.7    Schwikowski, B.8    Ideker, T.9


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