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Molecular cell biological research on CAG repeat disease

Research Project

Project/Area Number 07457153
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionThe University of Tokyo

Principal Investigator

KANAZAWA Ichiro  Faculty of Medicine Professor, 大学院・医学系研究科, 教授 (30110498)

Co-Investigator(Kenkyū-buntansha) GOTO Jun  The University of Tokyo Hospital assistant professor, 医学部・附属病院, 助手 (10211252)
NUKINA Nobuyuki  The University of Tokyo Faculty of Medicine associated professor, 大学院・医学系研究科, 助教授 (10134595)
Project Period (FY) 1995 – 1996
Project Status Completed (Fiscal Year 1996)
Budget Amount *help
¥7,200,000 (Direct Cost: ¥7,200,000)
Fiscal Year 1996: ¥2,500,000 (Direct Cost: ¥2,500,000)
Fiscal Year 1995: ¥4,700,000 (Direct Cost: ¥4,700,000)
KeywordsHuntington disease / Machado-Joseph disease / CAG repeat disease / DRPLA / Gene expression / 多型
Research Abstract

In the CAG repeat expansion diseases, Huntington's disease(HD), dentatorubraland pallidoluysian atrophy(DRPLA)and Machado-Josepg disease(MJD)were investigated from the molecular cell biological points of view.
1)The causal gene for HD is located on the short arm of the chromosome 4. HD patients have expanded CAG repeat allell of 38-98, whereas 9-28 in normals. Based on the haplotype analysis, the Japanese HD was approved to have at least two separate origins. By using specific antibody against huntingtin, it was revealed that the protein having abnormally long glutamine chain was actually expressed.
2) DRPLA patients have expanded CAG repeat allell of 53-88, whereas 7 -23 in normals. With the technique of Western analysis using specific antibody to the DRPLA gene product, the abnormal protein with abnormally long glutamine stretch was revealed to be ubiquitously expressed in neurons.
3)Expression of mRNA for MJD gene was found to be ubiquitous in the human central nervous system, when investigated with the technique of in situ hybridization using an antisense probe. There was no clear difference in terms of the expression pattern of mRNA for MJD gene.

Report

(3 results)
  • 1996 Annual Research Report   Final Research Report Summary
  • 1995 Annual Research Report
  • Research Products

    (22 results)

All Other

All Publications (22 results)

  • [Publications] Masuda N., Goto J., Murayama N., Watanabe M., Kondo I. and Kanazawa I.: "Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease." Journal of Medical Genetics. 32. 701-705 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yanagisawa H., Fujii K., Nagafuchi S., Nakahori Y., Nakagome Y. et. al.: "A unique origin and multistep process for the generation of expanded DRPLA triplet repeats." Human Molecular Genetics. 5・3. 373-379 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yazawa I., Nukina N., Ichikawa Y. and Kanazawa I.: "Dentatorubral-pallidoluysian atrophy proteins in lymphoblastoid cells." Neurology,. 47. 586-588 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yazawa I., Nukina N. and Kanazawa I.: "Characterization of dentatorubral-pallidoluysian atrophy poteins using two-dimensional electrophoretic analysis." Brain Research,. 732. 154-158 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Nishiyama K., Murayama S., Goto J., Watanabe M., Hashida H., et al.: "Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals." Ann Neurol,. 40. 776-781 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Hodgson JG., Smith DJ., McCutcheon K., Koide HB., Nishiyama K., Dinulos MB., et al.: "Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype." Human Molecular Genetics. 5・12. 1875-1885 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Masuda N., Goto J., Murayama N., Watanabe M., Kondo I.and Kanazawa I.: "Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease." Journal of Medical Genetics. 32. 701-705 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yanagisawa H., Fujii K., Nagafuchi S., Nakahori Y., Nakagome Y., Akane A., Nakamura M., Sano A., Komure O., Kondo I., Jin DK., Sorensen SA., Potter NT.Young SR., Nakamura K., Nukina N., Nagao Y., Tadokoro K., Okuyama T., Miyashita T., Inoue T., Kanazawa I.and Yamada M.: "A unique origin and multistep process for the generation of expanded DRPLA triplet repeats." Human Molecular Genetics. 5(3). 373-379 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yazawa I., Nukina N., Ichikawa Y.and Kanazawa I.: "Dentatorubral-pallidoluysian atrophy proteins in lymphoblastoid cells." Neurology. 47. 586-588 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yazawa I., Nukina N.and Kanazawa I.: "Characterization of dentatorubaral-pallidoluysian atrophy poteins using two-dimensional electrophoretic analysis." Brain Research. 732. 154-158 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Nishiyama K., Murayama S., Goto J., Watanabe M., Hashida H., Katayama S., Nomura Y., Nakamura S.and Kanazawa I.: "Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals." Ann Neurol. 40. 776-781 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Hodgson JG., Smith DJ., McCutcheon K., Koide HB., Nishiyama K., Dinulos MB., Stevens ME., Bissada N., Nasir J., Kanazawa I., Disteche CM., Rubin EM.and Hayden MR.: "Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype." Human Molecular Genetics. 5(12). 1875-1885 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1996 Final Research Report Summary
  • [Publications] Yanagisawa H,Fujii K,Nagafuchi S,Kanazawa I & Yamada M: "A unique origin and multistep process for the generation of expanded DRPLA triplet repeats" Hum Mol Genet. 5・3. 373-379 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Yazawa I,Nukina N,Ichikawa Y & Kanazawa I: "Dentatotubral-pallidoluysian atrophy proteins in lymphoblastoid cells" Neurology. 47. 586-588 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Yazawa I,Nukina N & Kanazawa I: "Characterization of dentatorubral-pallidoluysian atrophy proteins using two-dimensional electrophoretic analysis" Brain Res. 732. 154-158 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Nishiyama K,Murayama S,Goto J,Nakamura S & Kanazawa I: "Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals" Ann Neurol. 40. 776-781 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Hodgson JG,Smith DJ,McCutcheon K,Kanazawa I,Hayden MR: "Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype" Human Molecular Genetics. 5. 1875-1885 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Komure O, Sano A, Nishino N, Yamauchi N,・・・・・ Yamada M and Kanazawa I: "DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation." Neurology. 45. 143-149 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Almqvist E, Spence N, Nichol K, ・・・・ Kanazawa I, Goldberg YP and Hayden MR: "Ancestral differences in the distribution of the △2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes" Human Molecular Genetics. 4. 207-214 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Ide K, Nukina N, Masuda N, Goto J and Kanazawa I: "Abnormal gene product identified in Huntington´s deisease lymphocytes and brain." Biochem Biophys Res Commun. 209. 1119-1125 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Yazawa I, Nukina N, Hashida , Goto J, Yamada M and Kanazawa I: "Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy(DRPLA) brain." Nature Genetics.10. 99-103 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] Masuda N, Goto J, Murayama N, Watanabe M, Kondo I and Kanazawa I: "Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington´s disease" J Med Genet. 32. 701-705 (1995)

    • Related Report
      1995 Annual Research Report

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Published: 1995-04-01   Modified: 2016-04-21  

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