| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Outline of Final Research Achievements |
We have chosen R116X, W236X, R278X, and R402X mutations because they are the most frequent four nonsense mutations, and in addition we selected Q255X since we assumed that the -1 position of T, and +1 position of C (T-TAG-C) may be favorable for read-through phenomenon.Among the five nonsense TYR nonsense mutations, read-through effect was noted even without aminoglycosides in R116X. This is probably because the nucleotide sequence around the R116X meets the favorable situation reported by Celia et al as below. Especially, the plus 1 position of C (TGA-C) may be essential for the basal read-through because no read-through effect was observed in other four nonsense mutations (W236X, Q255X, R278X, R402X).）In this study, we were not able to find read-through effect of PTC124 with R116X and R278X. This may be in agreement with the fact that the plus 1 position of the R116X and R278X is C and T, respectively.
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