• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

STUDY OF NEUROFIBROMATOSIS 2 GENE

Research Project

Project/Area Number 07670968
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Dermatology
Research InstitutionJIKEI UNIVERSITY SCHOOL OF MEDICINE

Principal Investigator

HONDA Mariko  THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE DERMATOLOGY ASSISTANT PROFESSOR, 医学部, 講師 (20100919)

Co-Investigator(Kenkyū-buntansha) ITAMI Satomi  THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE DERMATOLOGY ASSISTANT, 医学部, 助手 (50232385)
SAWADA Shunichi  THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE DERMATOLOGY ASSISTANT PROFESSOR, 医学部, 講師 (50187291)
NIMURA Michihito  THE TOKYO JIKEI UNIVERSITY SCHOOL OF MEDICINE DERMATOLOGY PROFESSOR, 医学部, 教授 (00010190)
Project Period (FY) 1995 – 1997
Project Status Completed (Fiscal Year 1997)
Budget Amount *help
¥2,300,000 (Direct Cost: ¥2,300,000)
Fiscal Year 1997: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1996: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1995: ¥1,000,000 (Direct Cost: ¥1,000,000)
KeywordsNEUROFIBROMATOSIS 2 / PCR-SSCP / PROTEIN TRUNCATION TEST / PCR-SSCP法 / 神経線維腫症1 / 神経線維腫 / 神経鞘腫 / マスト細胞 / c-kit / stem cell factor
Research Abstract

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the occurrence of bilateral acoustic neuromas, as well as meningiomas and schwannomas. The gene locus for NF2 resider on chromosome 22q12 and has been cloned recently. The NF2 gene-encoded protein, named merlin or schwannomin, may function as a molecular linkage connecting cytoskeleton and plasma membrane. Merlin is thought to play a crucial role as a tumor suppressor not only in hereditary NF2-related fumors but also in sporadic tumors such as schwannomas, meningiomas. Neurilemmomatosis is characterized by multiple cutaneous and spinal schwannomas without other signs of NF1 or NF2. We reported that the neurilemmomatosis locus lies within the NF2 region and that these diseases might be ldentical. The term NF2 has been used to describe two clinical subtypes, representing the severe Wishart and mild Gardner. Thus, neurilemmomatosis is Gardner.
In this study we analyzed the peripheral leukocytes and tissue from cutaneous neurilemmomas from patients with neurilemmomatosis using PCR-SSCP of the entire coding region of the NF2 gene and the protein truncation test (PTT). We detected the germ-line mutations in five of thirteen patient (38.5%) and mutations in three of four tumors (75%). We recommend this PTT as a firstpass mutation screen.

Report

(4 results)
  • 1997 Annual Research Report   Final Research Report Summary
  • 1996 Annual Research Report
  • 1995 Annual Research Report
  • Research Products

    (25 results)

All Other

All Publications (25 results)

  • [Publications] 本田 まりこ: "神経鞘腫の遺伝子解析" 臨皮. 49. 107-114 (1995)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 本田 まりこ: "Reckling hausen病" Medicina. 33. 665-668 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 本田 まりこ: "神経線維腫症とマスト細胞" アレルギー科. 2. 271-276 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 本田 まりこ: "神経線維腫症2の遺伝子診断" 日皮会誌. 106. 1652-1653 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Shunichi Sawada: "Identification of NF1 mutations in both alleles of a dermal neurofibroma" Nature Genetics. 14. 110-112 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 新村 眞人: "皮膚病変とvon Rechling hausen病" 病理と臨床. 15. 134-140 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 本田 まりこ: "図説 耳鼻咽喉科2遺伝子異常と耳疾患" グロビュー社, 138 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 新村 眞人: "レックリングハウゼン病" 日本疫学,南江堂, 420 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Mariko Honda and Michihito Niimura: "Analysis of Neurilemmomatosis gene" Japanese Journal of Clinical Dermatology. 49. 107-114 (1995)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Mariko Honda and Michihito Niimura: "von Recklinghausen neurofibromatosis." Medicina. 33. 665-668 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Mariko Honda, Toshihiro Ito and Michihito Niimura: "Neurofibromatosis and mast cells." Clin Allergy. 2. 271-276 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Mariko Honda and Michihito Niimura: "Analysis of Neurofibromatosis 2 gene." Jpn J Dermatol. 106. 1652-1653 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Shunichi Sawada, Scott Florell, Smita M.Purandare, Mayumi Ota, Karen Stephen, David Viskochill: "ldentification of NF1 mutations in both alleles of a dermal neurofibroma." Nature Genetics. 14. 110-112 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Michihito Niimura and Toshihiro Ito: "Skin lesions of von Recklinghause's diseases." Pathology and Clinica Medicine.15. 134-140 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Michihito Niimura: "Neurofibromatosis 1,2 and Neurilemmomas." Molecular Medicine. 33. 158-163 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] Michihito Niimura: "Neurofibromasand Neurilemmomas." HIFUBYOU-SHINRYOU. 18. 231-234 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1997 Final Research Report Summary
  • [Publications] 澤田俊一ら: "神経線維腫症" 皮膚科の臨床. 39・増. 1103-1108 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 澤田俊一ら: "神経線維腫症1(NF1),2(NF2)遺伝子" 医学のあゆみ. 183・6. 422-423 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 本田まりこ ら: "医者から言われた病気のことがわかる本,母斑症" 永森 静志, 448 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 本田まりこら: "ReckIng hansen病" medicine. 33・4. 665-668 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 本田まりこら: "神経線維腫症とマスト細胞" アレルギー科. 2・3. 271-276 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 本田まりこら: "神経線維腫症2の遺伝子診断" 日本皮膚科学会誌. 106・13. 1652-1653 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 本田まりこら: "図説耳鼻咽喉科2遺伝子異常と耳疾患" グロビュー社, 138 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] Mariko Honda: "Neurofibronatosis 2 and Neurilsmmomatosis Gene Are Identical" J Invest Dermatol. 104. 74-77 (1995)

    • Related Report
      1995 Annual Research Report
  • [Publications] 本田まりこ: "神経鞘腫症の遺伝子解析" 臨皮. 49. 107-114 (1995)

    • Related Report
      1995 Annual Research Report

URL: 

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

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi