| Project/Area Number |
15K09644
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | University of Yamanashi |
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Principal Investigator |
NAKANE Takaya 山梨大学, 大学院総合研究部, 准教授 (90422683)
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| Co-Investigator(Renkei-kenkyūsha) |
SUGITA Kanji 山梨大学, 大学院総合研究部, 教授 (60138055)
GOI Kumiko 山梨大学, 大学院総合研究部, 講師 (70324192)
KAWAHARA Atsuo 山梨大学, 大学院総合研究部, 教授 (10362518)
WAKAYAMA Teruhiko 山梨大学, 大学院総合研究部, 教授 (40360672)
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| Research Collaborator |
ABE Masako
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | p53 / Xpd |
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| Outline of Final Research Achievements |
We recently experienced a boy with congenital microcephaly, pre- and post- growth failure, immunodeficiency, bone marrow failure. This patient had a p53 mutation, so that the function of p53 protein was enhanced and the specific symptoms were expected to occur. In humans p53 hyperactive mutation has not been reported as far as we could investigate. We created mice with a p53 mutation equivalent to p53 hyperactivity mutation (p53CTD) due to C-terminal deletion found in patients with advanced bone marrow dysfunction by genetic editing technique. p53CTD / WT mice showed a decrease in peripheral lymphocytes and macrocytic anemia in addition to hyperpigmentation of limbs which is a feature of p53 abnormal activation
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