메뉴 건너뛰기




Volumn 6, Issue 4, 2007, Pages 300-307

Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein

Author keywords

Ataxia; Cerebellum; Repeat expansion; SCA17; TBP

Indexed keywords

ANTIDEPRESSANT AGENT; CHOLINERGIC RECEPTOR STIMULATING AGENT; GLUTAMINE; TATA BINDING PROTEIN;

EID: 36549002245     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1080/14734220601136177     Document Type: Article
Times cited : (21)

References (61)
  • 1
    • 17844389364 scopus 로고    scopus 로고
    • The wide spectrum of spinocerebellar ataxias (SCAs)
    • Manto MU. The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum. 2005;4:2-6.
    • (2005) Cerebellum , vol.4 , pp. 2-6
    • Manto, M.U.1
  • 2
    • 2442464954 scopus 로고    scopus 로고
    • Molecular genetics of hereditary spinocerebellar ataxia: Mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
    • Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F. Molecular genetics of hereditary spinocerebellar ataxia: Mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol. 2004;61:727-33.
    • (2004) Arch Neurol , vol.61 , pp. 727-733
    • Brusco, A.1    Gellera, C.2    Cagnoli, C.3    Saluto, A.4    Castucci, A.5    Michielotto, C.6    Fetoni, V.7    Mariotti, C.8    Migone, N.9    Di Donato, S.10    Taroni, F.11
  • 3
    • 27744574750 scopus 로고    scopus 로고
    • Minimum prevalence of spinocerebellar ataxia 17 in the north east of England
    • Craig K, Keers SM, Walls TJ, Curtis A, Chinnery PF. Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. J Neurol Sci. 2005;239:105-9.
    • (2005) J Neurol Sci , vol.239 , pp. 105-109
    • Craig, K.1    Keers, S.M.2    Walls, T.J.3    Curtis, A.4    Chinnery, P.F.5
  • 4
    • 0032885515 scopus 로고    scopus 로고
    • A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
    • Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, Yamada M, Takahashi H, Tsuji S. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease? Hum Mol Genet. 1999;8:2047-53.
    • (1999) Hum Mol Genet , vol.8 , pp. 2047-2053
    • Koide, R.1    Kobayashi, S.2    Shimohata, T.3    Ikeuchi, T.4    Maruyama, M.5    Saito, M.6    Yamada, M.7    Takahashi, H.8    Tsuji, S.9
  • 7
    • 0037321835 scopus 로고    scopus 로고
    • Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?
    • Zühlke C, Gehlken U, Hellenbroich Y, Schwinger E, Bürk K. Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17? J Neurol. 2003;250:161-3.
    • (2003) J Neurol , vol.250 , pp. 161-163
    • Zühlke, C.1    Gehlken, U.2    Hellenbroich, Y.3    Schwinger, E.4    Bürk, K.5
  • 15
    • 3442890310 scopus 로고    scopus 로고
    • Basal ganglia involvement of a patient with SCA 17 - a new form of autosomal dominant spinocerebellar ataxia
    • Günther P, Storch A, Schwarz J, Sabri O, Steinbach P, Wagner A, Hesse S. Basal ganglia involvement of a patient with SCA 17 - a new form of autosomal dominant spinocerebellar ataxia. J Neurol. 2004;251:896-7.
    • (2004) J Neurol , vol.251 , pp. 896-897
    • Günther, P.1    Storch, A.2    Schwarz, J.3    Sabri, O.4    Steinbach, P.5    Wagner, A.6    Hesse, S.7
  • 18
    • 30444440181 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
    • Loy CT, Sweeney MG, Davis MB, Wills AJ, Sawle GV, Lees AJ, Tabrizi SJ. Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging. Mov Disord. 2005;20:1521-3.
    • (2005) Mov Disord , vol.20 , pp. 1521-1523
    • Loy, C.T.1    Sweeney, M.G.2    Davis, M.B.3    Wills, A.J.4    Sawle, G.V.5    Lees, A.J.6    Tabrizi, S.J.7
  • 24
    • 0038119658 scopus 로고    scopus 로고
    • Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region
    • Hellenbroich Y, Bubel S, Pawlack H, Opitz S, Vieregge P, Schwinger E, Zühlke C. Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. J Neurol. 2003;250:668-71.
    • (2003) J Neurol , vol.250 , pp. 668-671
    • Hellenbroich, Y.1    Bubel, S.2    Pawlack, H.3    Opitz, S.4    Vieregge, P.5    Schwinger, E.6    Zühlke, C.7
  • 27
    • 0028291079 scopus 로고
    • The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27
    • Imbert G, Trottier Y, Beckmann J, Mandel JL. The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27. Genomics. 1994;21:667-8.
    • (1994) Genomics , vol.21 , pp. 667-668
    • Imbert, G.1    Trottier, Y.2    Beckmann, J.3    Mandel, J.L.4
  • 28
    • 0025771464 scopus 로고
    • Trinucleotide repeat polymorphism at the human transcription factor IID gene
    • Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Trinucleotide repeat polymorphism at the human transcription factor IID gene. Nucleic Acids Res. 1991;19:4307.
    • (1991) Nucleic Acids Res , vol.19 , pp. 4307
    • Polymeropoulos, M.H.1    Rath, D.S.2    Xiao, H.3    Merril, C.R.4
  • 29
    • 0027445452 scopus 로고
    • Cryptic' repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: Analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes
    • Gostout B, Liu Q, Sommer SS. 'Cryptic' repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes. Am J Hum Genet. 1993;52:1181-90.
    • (1993) Am J Hum Genet , vol.52 , pp. 1181-1190
    • Gostout, B.1    Liu, Q.2    Sommer, S.S.3
  • 31
    • 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
    • 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;111:154-62.
    • (2005) Acta Neurol Scand , vol.111 , pp. 154-162
    • Juvonen, V.1    Hietala, M.2    Kairisto, V.3    Savontaus, M.L.4
  • 33
    • 26444569294 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
    • Zühlke C, Dalski A, Schwinger E, Finckh U. Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. BMC Med Genet. 2005;6:27.
    • (2005) BMC Med Genet , vol.6 , pp. 27
    • Zühlke, C.1    Dalski, A.2    Schwinger, E.3    Finckh, U.4
  • 34
    • 9444224946 scopus 로고    scopus 로고
    • Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease
    • Shatunov A, Fridman EA, Pagan FI, Leib J, Singleton A, Hallett M, Goldfarb LG. Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease. Clin Genet. 2004;66:496-501.
    • (2004) Clin Genet , vol.66 , pp. 496-501
    • Shatunov, A.1    Fridman, E.A.2    Pagan, F.I.3    Leib, J.4    Singleton, A.5    Hallett, M.6    Goldfarb, L.G.7
  • 36
    • 0035504107 scopus 로고    scopus 로고
    • CAG repeat instability at SCA2 locus: Anchoring CAA interruptions and linked single nucleotide polymorphisms
    • Choudhry S, Mukerji M, Srivastava AK, Jain S, Brahmachari SK. CAG repeat instability at SCA2 locus: Anchoring CAA interruptions and linked single nucleotide polymorphisms. Hum Mol Genet. 2001;10:2437-46.
    • (2001) Hum Mol Genet , vol.10 , pp. 2437-2446
    • Choudhry, S.1    Mukerji, M.2    Srivastava, A.K.3    Jain, S.4    Brahmachari, S.K.5
  • 37
    • 85047698133 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles
    • Zühlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Bürk K. Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles. Eur J Hum Genet. 2002;10:204-9.
    • (2002) Eur J Hum Genet , vol.10 , pp. 204-209
    • Zühlke, C.1    Dalski, A.2    Hellenbroich, Y.3    Bubel, S.4    Schwinger, E.5    Bürk, K.6
  • 38
    • 0030700891 scopus 로고    scopus 로고
    • Rethinking genotype and phenotype correlations in polyglutamine expansion disorders
    • Andrew SE, Goldberg YP, Hayden MR. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. Hum Mol Genet. 1997;6:2005-10.
    • (1997) Hum Mol Genet , vol.6 , pp. 2005-2010
    • Andrew, S.E.1    Goldberg, Y.P.2    Hayden, M.R.3
  • 41
    • 18544405113 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene
    • van der Sluijs BM, van Engelen BG, Hoefsloot LH. Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. Hum Mutat. 2003;21:553.
    • (2003) Hum Mutat , vol.21 , pp. 553
    • van der Sluijs, B.M.1    van Engelen, B.G.2    Hoefsloot, L.H.3
  • 42
    • 0029009456 scopus 로고
    • Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and caucasian subjects with Machado-Joseph disease
    • Takiyama Y, Igarashi S, Rogaeva EA, Endo K, Rogaev EI, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and caucasian subjects with Machado-Joseph disease. Hum Mol Genet. 1995;4:1137-46.
    • (1995) Hum Mol Genet , vol.4 , pp. 1137-1146
    • Takiyama, Y.1    Igarashi, S.2    Rogaeva, E.A.3    Endo, K.4    Rogaev, E.I.5    Tanaka, H.6    Sherrington, R.7    Sanpei, K.8    Liang, Y.9    Saito, M.10
  • 43
    • 0029864225 scopus 로고    scopus 로고
    • Machado-Joseph Disease: Correlation between clinical features, the CAG repeat length and homozygosity of the mutation
    • Lerer I, Merims D, Abeliovich D, Zlotogora J, Gadoth N. Machado-Joseph Disease: Correlation between clinical features, the CAG repeat length and homozygosity of the mutation. Eur J Hum Genet. 1996;4:3-7.
    • (1996) Eur J Hum Genet , vol.4 , pp. 3-7
    • Lerer, I.1    Merims, D.2    Abeliovich, D.3    Zlotogora, J.4    Gadoth, N.5
  • 45
    • 0025876335 scopus 로고
    • Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study
    • Polo JM, Calleja J, Combarros O, Berciano J. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain. 1991;114:855-66.
    • (1991) Brain , vol.114 , pp. 855-866
    • Polo, J.M.1    Calleja, J.2    Combarros, O.3    Berciano, J.4
  • 46
    • 0037043031 scopus 로고    scopus 로고
    • Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: Astudy of 1,286 Japanese patients
    • Maruyama H, Izumi Y, Morino H, Oda M, Toji H, Nakamura S, Kawakami H. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: Astudy of 1,286 Japanese patients. Am J Hum Genet. 2002;114:578-83.
    • (2002) Am J Hum Genet , vol.114 , pp. 578-583
    • Maruyama, H.1    Izumi, Y.2    Morino, H.3    Oda, M.4    Toji, H.5    Nakamura, S.6    Kawakami, H.7
  • 48
    • 0025352364 scopus 로고
    • Highly conserved core domain and unique N terminus with presumptive regulatory motifs in a human TATA factor (TFIID)
    • Hoffmann A, Sinn E, Yamamoto T, Wang J, Roy A, Horisoshi M, Roeder RG. Highly conserved core domain and unique N terminus with presumptive regulatory motifs in a human TATA factor (TFIID). Nature. 1990;346:387-90.
    • (1990) Nature , vol.346 , pp. 387-390
    • Hoffmann, A.1    Sinn, E.2    Yamamoto, T.3    Wang, J.4    Roy, A.5    Horisoshi, M.6    Roeder, R.G.7
  • 50
    • 0025375345 scopus 로고
    • Functional domains and upstream activation properties of cloned human TATA binding protein
    • Peterson MG, Tanese N, Pugh BF, Tjian R. Functional domains and upstream activation properties of cloned human TATA binding protein. Science. 1990;248:1625-30.
    • (1990) Science , vol.248 , pp. 1625-1630
    • Peterson, M.G.1    Tanese, N.2    Pugh, B.F.3    Tjian, R.4
  • 51
    • 0027990301 scopus 로고
    • Physical mapping at 6q27 of the locus for the TATA box-binding protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome
    • Purrello M, Pietro CD, Mirabile E, Rapisarda A, Rimini R, Tine A, Pavone L, Motta S, Grzeschik KH, Sichel G. Physical mapping at 6q27 of the locus for the TATA box-binding protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome. Genomics. 1994;22:94-100.
    • (1994) Genomics , vol.22 , pp. 94-100
    • Purrello, M.1    Pietro, C.D.2    Mirabile, E.3    Rapisarda, A.4    Rimini, R.5    Tine, A.6    Pavone, L.7    Motta, S.8    Grzeschik, K.H.9    Sichel, G.10
  • 52
    • 0034704187 scopus 로고    scopus 로고
    • Distinct roles for TBP and TBP-like factor in early embryonic gene transcription in Xenopus
    • Veenstra GJC, Weeks DL, Wolffe AP. Distinct roles for TBP and TBP-like factor in early embryonic gene transcription in Xenopus. Science. 2000;290:2312-4.
    • (2000) Science , vol.290 , pp. 2312-2314
    • Veenstra, G.J.C.1    Weeks, D.L.2    Wolffe, A.P.3
  • 53
    • 0036829688 scopus 로고    scopus 로고
    • RNA polymerase II transcription in murine cells lacking the TATA binding protein
    • Martianov I, Viville S, Davidson I. RNA polymerase II transcription in murine cells lacking the TATA binding protein. Science. 2002;298:1036-9.
    • (2002) Science , vol.298 , pp. 1036-1039
    • Martianov, I.1    Viville, S.2    Davidson, I.3
  • 56
    • 2942567725 scopus 로고    scopus 로고
    • Reid SJ, van Roon-Mom WM, Wood PC, Rees MI, Owen MJ, Faull RL, Dragunow M, Snell RG. TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease. Brain Res Mol Brain Res. 2004;125:120-8.
    • Reid SJ, van Roon-Mom WM, Wood PC, Rees MI, Owen MJ, Faull RL, Dragunow M, Snell RG. TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease. Brain Res Mol Brain Res. 2004;125:120-8.
  • 58
    • 0029744077 scopus 로고    scopus 로고
    • Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder
    • Rubinsztein DC, Leggo J, Crow TJ, DeLisi LE, Walsh C, Jain S, Paykel ES. Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder. Am J Hum Genet. 1996;67:495-8.
    • (1996) Am J Hum Genet , vol.67 , pp. 495-498
    • Rubinsztein, D.C.1    Leggo, J.2    Crow, T.J.3    DeLisi, L.E.4    Walsh, C.5    Jain, S.6    Paykel, E.S.7
  • 60
    • 0028470671 scopus 로고    scopus 로고
    • WFN&IHA, Guidelines for the molecular genetics predictive test in Huntington's disease. Med Genet. 1994;31:555-9.
    • WFN&IHA, Guidelines for the molecular genetics predictive test in Huntington's disease. Med Genet. 1994;31:555-9.
  • 61
    • 0026543897 scopus 로고
    • Conservation and evolution of transcriptional mechanisms in eukaryotes
    • Guarente L, Bermingham-McDonogh O. Conservation and evolution of transcriptional mechanisms in eukaryotes. Trends Genet. 1992;8:27-32.
    • (1992) Trends Genet , vol.8 , pp. 27-32
    • Guarente, L.1    Bermingham-McDonogh, O.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.