2012 Fiscal Year Final Research Report
In vivo effects of human disease-associated Tsc2 mutations analyzed by transgenic Eker rat system.
Project/Area Number |
23701095
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Clinical oncology
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Research Institution | Tohoku University |
Principal Investigator |
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Project Period (FY) |
2011 – 2012
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Keywords | Tsc2 / Tuberin / Tumor Suppressor gene / Tuberous sclerosis / Eker rat / Transgenic rat |
Research Abstract |
We have exploited a transgenic Eker (Tsc2-mutant) rat system to analyze the effects of various Tsc2 mutations in pathogenesis in vivo. Here we focus on an N525S-type Tsc2 variant (NSM). Unexpectedly, we were unable to generate viable newborn rats carrying an NSM transgene (Tg) by repeated experiments. Genotype analysis revealed that most embryos carrying Tg died around embryonic day 13.5, consistent with Eker homozygotes' embryonic lethal stage. Thus, the NSM appeared to have a dominant lethal effect in rats. These indicate that the pathway other than the mTOR axis, regulated by tuberin, is crucial for embryogenesis.
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[Journal Article] Multidisciplinary approach to a case of Lynch syndrome with colorectal,ovarian, and metastatic liver carcinomas2012
Author(s)
Shiono M, Shimodaira H, Watanabe M, Takase K, Ito K, Miura K, Takami Y, Akiyama S, Kakudo Y, Takahashi S, Takahashi M, Ishioka C.
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Journal Title
International Cancer Conference Journal
Volume: 1(3)
Pages: 125-137
DOI
Peer Reviewed
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