2000 Fiscal Year Final Research Report Summary
Study on underlying gene of Nijmegen Breakage Syndrome
| Project/Area Number |
10044295
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| Research Category |
Grant-in-Aid for Scientific Research (B).
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
環境影響評価(含放射線生物学)
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| Research Institution | HIROSHIMA UNIVERSITY |
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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)
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| 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)
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| Project Period (FY) |
1998 – 2000
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| Keywords | NBS / AT / NBS1 / ATM / ionizing radiation / dsb / linkage analysis / p53 |
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| 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.
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