2002 Fiscal Year Final Research Report Summary
MOLECULAR PATHOLOGY IN DISEASES WITH DNA STRAND BREAKS AND REPAIR DEFECTS.
| Project/Area Number |
13470158
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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 |
Pediatrics
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| Research Institution | TOKYO MEDICAL AND DENTAL UNIVERSITY |
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Principal Investigator |
MIZUTANI Shuki TOKYO MEDICAL AND DENTAL UNIVERSITY, DEPARTEMNT OF PEDIATRICS. PROFESSOR, 大学院・医歯学総合研究科, 教授 (60126175)
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| Co-Investigator(Kenkyū-buntansha) |
MORIO Tomohiro TOKYO MEDICAL AND DENTAL UNIVERSITY, DEPARTEMNT OF GENERAL MEDICINE. ASSOCIATE PROFESSOR, 医学部附属病院, 助教授 (30239628)
NONOYAMA Shigeaki THE NATIONAL DEFENSE UNIVERSITY MEDICAL SCHOOL. DEPARTEMNT OF PEDIATRICS. PROFESSOR, 教授
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| Project Period (FY) |
2001 – 2002
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| Keywords | DNA STRAND BREAKS / CD23 / AID / ATM / Ku / 70 / 80 / クラススイッチ |
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| Research Abstract |
Activation-Induce Cytidine Deaminase (AID) is an essential molecule for immunoglobulin class switching in B cells, and the mutation of AID is responsible for hyper-IgM syndrome type II. We identified 12 Japanese patients with hyper-IgM syndrome type II. We found R190X mutation has a dominant negative function against wild type AID.
ATM is a gene involved in the pathogenesis of Ataxia Telangiectasia and plays an important role in genome surveillance system. We found germ line ATM mutation in a case with acute leukemia with MLL gene rearrangement. This mutation also had a dominant negative function against wild type ATM, suggesting an important link between ATM dysfunction and MLL gene rearrangement in childhood leukemia. We found Ku70/80 auguments TCF/beta-catenin dependent transactivation and positively regulates CD23 expression.
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