| Budget Amount *help |
¥26,000,000 (Direct Cost: ¥20,000,000、Indirect Cost: ¥6,000,000)
Fiscal Year 2019: ¥7,800,000 (Direct Cost: ¥6,000,000、Indirect Cost: ¥1,800,000)
Fiscal Year 2018: ¥10,400,000 (Direct Cost: ¥8,000,000、Indirect Cost: ¥2,400,000)
Fiscal Year 2017: ¥7,800,000 (Direct Cost: ¥6,000,000、Indirect Cost: ¥1,800,000)
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| Outline of Final Research Achievements |
In this study, we demonstrated that homologous recombination underlies reversion of pathogenic mutations in ichthyosis with confetti. We also showed that loricrin keratoderma represents revertant mosaicism. Although the precise mechanisms underlying reversion of mutations remain unclear, we demonstrated that (1) mutant protein does not increase DNA double strand break (DSB), (2) mutant protein does not affect the pathway choice in the repair of DSB induced by X-ray irradiation, (3) mutant protein does not increase replication stress, and (4) mutant protein alters replication stress response.
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