| Project/Area Number |
10670719
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | GIFU UNIVERSITY |
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Principal Investigator |
KANEKO Hideo GIFU UNIVERSITY, SCHOOL OF MEDICINE, DEPARTMENT OF PEDIATRICS, ASSISTANT PROFESSOR, 医学部, 助手 (80293554)
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| Co-Investigator(Kenkyū-buntansha) |
FUKAO Toshiyuki GIFU UNIVERSITY, SCHOOL OF MEDICINE, DEPARTMENT OF PEDIATRICS, ASSISTANT PROFESSOR, 医学部・附属病院, 助手 (70260578)
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| Project Period (FY) |
1998 – 1999
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| Project Status |
Completed (Fiscal Year 1999)
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| Budget Amount *help |
¥3,200,000 (Direct Cost: ¥3,200,000)
Fiscal Year 1999: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 1998: ¥2,000,000 (Direct Cost: ¥2,000,000)
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| Keywords | BLOOM SYNDROME / BLM / ATAXIA-TELANGIECTASIA / ATM / FAMILIAL TUMOR / IMMUNODEFICIENCY / 相合作用 / イムノブロット / ヘリカーゼ活性 / 核移行シグナル |
|---|
| Research Abstract |
(1) We showed that BLM protein was expressed strongly in thymus and testis and that BLM protein was not directly involved in Ig VDJ recombination.
(2) We showed that the ArgィイD11344ィエD1-SerィイD11345ィエD1-LysィイD11346ィエD1-ArgィイD11347ィエD1 sequence at the C-terminus of the human BLM protein was essential for nuclear localization of this protein.
(3) We demonstrated that immunoblot analysis using EBV-transformed or PHA-stimulated lymphoblastas represented a useful approach for laboratory diagnosis for A-T.
(4) We demonstrated that ATM is upregulated during the mitogenic response in peripheral blood mononuclear cells.
(5) We showed that IVS33 + 2T -> A and 7883del5 were identified in four and five alleles, respectively, in a total of 18 mutant alleles of Japanese A-T patients. These results suggested that these two mutations were relatively common mutations in the Japanese population.
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