Schizophrenia Research
Volume 78, Issue 2 , Pages 131-136 , 15 October 2005

Expanded trinucleotide repeats in the TBP/SCA17 gene mapped to chromosome 6q27 are associated with schizophrenia

  • Chiung-Mei Chen

      Affiliations

    • Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei 105, Taiwan
    • ,
  • Hsien-Yuan Lane

      Affiliations

    • Department of Psychiatry, China Medical University Hospital, No. 2, Yuh-Der Road, Taichung 404, Taiwan
    • Corresponding Author InformationCorresponding authors. G.-J. Lee-Chen is to be contacted at Tel.: +886 2 29336875; fax: +886 2 29312904. H.-Y. Lane is to be contacted at Tel.: +886 4 22052121; fax: +886 4 22361042.
    • ,
  • Yih-Ru Wu

      Affiliations

    • Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei 105, Taiwan
    • ,
  • Long-Sun Ro

      Affiliations

    • Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei 105, Taiwan
    • ,
  • Fen-Lin Chen

      Affiliations

    • Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
    • ,
  • Wei-Ling Hung

      Affiliations

    • Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
    • ,
  • Yi-Ting Hou

      Affiliations

    • Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
    • ,
  • Cheng-Yueh Lin

      Affiliations

    • Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
    • ,
  • Shu-Yi Huang

      Affiliations

    • Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
    • ,
  • I-Cheng Chen

      Affiliations

    • Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, Taipei 105, Taiwan
    • ,
  • Bing-Wen Soong

      Affiliations

    • Neurological Institute, Taipei Veterans General Hospital and School of Medicine, National Yang-Ming University, Taipei 112, Taiwan
    • ,
  • Ming-Liang Li

      Affiliations

    • Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
    • ,
  • Hsiu-Mei Hsieh-Li

      Affiliations

    • Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
    • ,
  • Ming-Tsan Su

      Affiliations

    • Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
    • ,
  • Guey-Jen Lee-Chen

      Affiliations

    • Department of Life Science, National Taiwan Normal University, 88 Ting-Chou Road, Section 4, Taipei 116, Taiwan
    • Corresponding Author InformationCorresponding authors. G.-J. Lee-Chen is to be contacted at Tel.: +886 2 29336875; fax: +886 2 29312904. H.-Y. Lane is to be contacted at Tel.: +886 4 22052121; fax: +886 4 22361042.

Received 13 April 2005 ,Revised 21 June 2005 ,Accepted 21 June 2005.

References 

  1. American Psychiatric Association . Structured Clinical Interview for DSM-IV. Washington, DC: American Psychiatric Press; 1994;
  2. Bauer P, Laccone F, Rolfs A, Wullner U, Bosch S, Peters H, et al. Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J. Med. Genet. 2004;41:230–232
  3. Bowen T, Guy C, Speight G, Jones L, Cardno A, Murphy K, et al. Expansion of 50 CAG/CTG repeats excluded in schizophrenia by application of a highly efficient approach using repeat expansion detection and a PCR screening set. Am. J. Hum. Genet. 1996;59:912–917
  4. Brusco A, Cagnoli C, Franco A, Dragone E, Nardacchione A, Grosso E, et al. Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1–3, 6 and 7 CAG expansions. J. Neurol. 2002;249:923–929
  5. Cummings CJ, Zoghbi HY. Fourteen and counting: unraveling trinucleotide repeat diseases. Hum. Mol. Genet. 2000;9:909–916
  6. De Michele G, Maltecca F, Carella M, Volpe G, Orio M, De Falco A, et al. Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. Neurol. Sci. 2003;24:166–167
  7. Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain. 2001;124:1939–1947
  8. Fujigasaki H, Verma IC, Camuzat A, Margolis RL, Zander C, Lebre AS, et al. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann. Neurol. 2001;49:117–121
  9. Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, et al. Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat. Genet. 1999;23:391–392
  10. Kao CC, Lieberman PM, Schmidt MC, Zhou Q, Pei R, Berk AJ. Cloning of a transcriptionally active human TATA binding factor. Science. 1990;248:1646–1650
  11. Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?. Hum. Mol. Genet. 1999;8:2047–2053
  12. Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat. Genet. 1999;21:379–384
  13. Laurent C, Niehaus D, Bauche S, Levinson DF, Soubigou S, Pimstone S, et al. CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia. Am. J. Med. Genet. (Neuropsychiatr. Genet.). 2003;116:45–50
  14. Maltecca F, Filla A, Castaldo I, Coppola G, Fragassi NA, Carella M, et al. Intergenerational instability and marked anticipation in SCA-17. Neurology. 2003;61:1441–1443
  15. Margolis RL, McInnis MG, Rosenblatt A, Ross CA. Trinucleotide repeat expansion and neuropsychiatric disease. Arch. Gen. Psychiatry. 1999;56:1019–1031
  16. Morris AG, Gaitonde E, McKenna PJ, Mollon JD, Hunt DM. CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset. Hum. Mol. Genet. 1995;4:1957–1961
  17. Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum. Mol. Genet. 2001;10:1441–1448
  18. Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, et al. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. Arch. Neurol. 2004;61:209–212
  19. O'Donovan MC, Guy C, Craddock N, Bowen T, McKeon P, Macedo A, et al. Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder. Psychol. Med. 1996;26:1145–1153
  20. O'Hearn E, Holmes SE, Calvert PC, Ross CA, Margolis RL. SCA-12: tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. Neurology. 2001;56:299–303
  21. Pato CN, Macedo A, Ambrosio A, Vincent JB, Bauer A, Schindler K, et al. Detection of expansion regions in Portuguese bipolar families. Am. J. Med. Genet. 2000;96:854–857
  22. Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann. Neurol. 2003;54:367–375
  23. Rubinsztein DC, Leggo J, Crow TJ, DeLisi LE, Walsh C, Jain S, et al. 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. Med. Genet. 1996;67:495–498
  24. Stevanin G, Durr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur. J. Hum. Genet. 2000;8:4–18
  25. Tsai HF, Liu CS, Leu TM, Wen FC, Lin SJ, Liu CC, et al. Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan. Acta Neurol. Scand. 2004;109:355–360
  26. Tsutsumi T, Holmes SE, McInnis MG, Sawa A, Callahan C, DePaulo JR, et al. Novel CAG/CTG repeat expansion mutations do not contribute to the genetic risk for most cases of bipolar disorder or schizophrenia. Am. J. Med. Genet. (Neuropsychiatr. Genet.). 2004;124:15–19
  27. Vincent JB, Yuan QP, Schalling M, Adolfsson R, Azevedo MH, Macedo A, et al. Long repeat tracts at SCA8 in major psychosis. Am. J. Med. Genet. 2000;96:873–876
  28. Wu YR, Lin HY, Chen CM, Gwinn-Hardy K, Ro LS, Wang YC, et al. Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. Clin. Genet. 2004;65:209–214
  29. Wu YR, Fung HC, Lee-Chen GJ, Gwinn-Hardy K, Ro LS, Chen ST, et al. Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. J. Neural Transm. 2005;112:539–546

PII: S0920-9964(05)00254-9

doi: 10.1016/j.schres.2005.06.018

Schizophrenia Research
Volume 78, Issue 2 , Pages 131-136 , 15 October 2005

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