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

2000 Fiscal Year Final Research Report Summary

Study on underlying gene of Nijmegen Breakage Syndrome

Research Project

Project/Area Number 10044295
Research Category

Grant-in-Aid for Scientific Research (B).

Allocation TypeSingle-year Grants
Section一般
Research Field 環境影響評価(含放射線生物学)
Research InstitutionHIROSHIMA UNIVERSITY

Principal Investigator

KOMATSU Kenshi  Research Institute for Radiation Biology and Medicine, Hiroshima University, Professor, 原爆放射能医学研究所, 教授 (80124577)

Co-Investigator(Kenkyū-buntansha) TAUCHI Hiroshi  Research Institute for Radiation Biology and Medicine, Hiroshima University, Research Associate, 原爆放射能医学研究所, 助手 (70216597)
MATSUURA Shinya  Research Institute for Radiation Biology and Medicine, Hiroshima University, Assosiate Professor, 原爆放射能医学研究所, 助教授 (90274133)
Project Period (FY) 1998 – 2000
KeywordsNBS / AT / NBS1 / ATM / ionizing radiation / dsb / linkage analysis / p53
Research Abstract

We have investigated phenotypes and genotypes of cells from patients with Nijmegen breakage syndrome.
1. NBS cells partially repressed the induction of p53 and phosphorylation of p53 (ser-15) after irradiation.
2. NBS cells showed the defect in apoptic response to radiation.
3. For the perpose of prenatal diagnosis, we analyzed mutation in NBS gene of patients and haplotype of parental DNA.
4. We investigated mechanism of NBS1 in chromosomal stability, radiation sensitivity and signal transduction, which include ATM, Histon H2AX, p53, NBS, hMre11, Ku.

  • Research Products

    (12 results)

All Other

All Publications (12 results)

  • [Publications] H.Tauchi, et.al.: "The FHA domain of NBS1 is essential for nuclear foci formation after irradiation, but not essential for hRAD50/hMRE11/NBS1 complex DNA repair activity."J.Biol.Chem.. 276. 12-15 (2001)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] J.P.Winter, et.al.: "Isolation of a cDNA representing the Fanconi anemia complementation group E gene."Am.J.Hum.Genet.. 67. 1306-1308 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] S.Matsuura, et.al.: "Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint."Am.J.Hum.Genet.. 67. 483-486 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] H.Tauchi, et.al.: "Mutation spectrum of MSH3-deficient cells HHUA/chr.2 refrects in vivo activity of the MSH3 gene product in mismatch repair."Mutat.Res. 447. 155-164 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] S.Hama, et.al.: "Absence of mutation in the NBS1 gene inn B-cell malignant lymphoma patients."Anticancer Res.. 20. 1897-1900 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] T.Ohnishi, et.al.: "Heat-induced accumulation of p53 and hsp72 is suppressed in lung fibroblasts from SCID mouse."Int.J.Radiat.Biol.. 76. 711-715 (2000)

    • Description
      「研究成果報告書概要(和文)」より
  • [Publications] H.Tauchi, et.al.: "The FHA domain of NBS1 is essential for nuclear foci formation after irradiation, but not essential for hRAD50/hMRE11/NBS1 complex DNA repair activity."J.Biol.Chem.. 276. 12-15 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] J.P.Winter, et.al.: "Isolation of a cDNA representing the Fanconi anemia complementation group E gene."Am.J.Hum.Genet.. 67. 1306-1308 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] S.Matsuura, et.al.: "Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint."Am.J.Hum.Genet.. 67. 483-486 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] H.Tauchi, et.al.: "Mutation spectrum of MSH3-deficient cells HHUA/chr.2 refrects in vivo activity of the MSH3 gene product in mismatch repair."Mutat.Res. 447. 155-164 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] S.Hama, et.al.: "Absence of mutation in the NBS1 gene inn B-cell malignant lymphoma patients."Anticancer Res.. 20. 1897-1900 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Publications] T.Ohnishi, et.al.: "Heat-induced accumulation of p53 and hsp72 is suppressed in lung fibroblasts from SCID mouse."Int.J.Radiat.Biol.. 76. 711-715 (2000)

    • Description
      「研究成果報告書概要(欧文)」より

URL: 

Published: 2002-03-26  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi