| Budget Amount *help |
¥42,900,000 (Direct Cost: ¥33,000,000、Indirect Cost: ¥9,900,000)
Fiscal Year 2017: ¥12,350,000 (Direct Cost: ¥9,500,000、Indirect Cost: ¥2,850,000)
Fiscal Year 2016: ¥12,350,000 (Direct Cost: ¥9,500,000、Indirect Cost: ¥2,850,000)
Fiscal Year 2015: ¥18,200,000 (Direct Cost: ¥14,000,000、Indirect Cost: ¥4,200,000)
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| Outline of Final Research Achievements |
Genomic DNA is constitutively exposed to various DNA damaging sources; therefore, the DNA repair and damage response system is essential for the maintenance and stable transmission of the genetic information. A failure in this system elicits genome instability and causes carcinogenesis and ageing. In this study, we have collected various hereditary disorder cases world-widely to identify genetic factors associated with congenital genome instability. We generated a pathogenic mutation database as well as a cell-bank from the analysis of collected samples. We have identified several new DNA repair genes with novel pathogenic mutations. We are currently working on the molecular pathogenesis of newly identified mutations and their associated genetic disorders.
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