| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Outline of Final Research Achievements |
Fragile X syndrome is the most common form of familial intellectual disability, and is caused via expansion (destabilization) of CGG repeat present within the responsible gene FMR1 and gene inactivation accompanying it at the maternal propagation. In the present study, in order to elucidate a series of molecular pathological mechanisms, we tried to establish a system that can monitor the instability of repeat with fluorescence using chromosome engineering technology and genome editing and to identify factors related to it, Fluorescence monitoring system using genome editing failed to obtain the result reflecting the expression pattern of FMR1 originally recognized in humans. However, it was shown that chromosomal engineering operation is a very useful methodology for stable handling of chromosome fragile sites mainly composed of CGG repeats and the like.
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