| Budget Amount *help |
¥106,080,000 (Direct Cost: ¥81,600,000、Indirect Cost: ¥24,480,000)
Fiscal Year 2016: ¥20,150,000 (Direct Cost: ¥15,500,000、Indirect Cost: ¥4,650,000)
Fiscal Year 2015: ¥20,150,000 (Direct Cost: ¥15,500,000、Indirect Cost: ¥4,650,000)
Fiscal Year 2014: ¥20,280,000 (Direct Cost: ¥15,600,000、Indirect Cost: ¥4,680,000)
Fiscal Year 2013: ¥20,150,000 (Direct Cost: ¥15,500,000、Indirect Cost: ¥4,650,000)
Fiscal Year 2012: ¥25,350,000 (Direct Cost: ¥19,500,000、Indirect Cost: ¥5,850,000)
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| Outline of Final Research Achievements |
To establish genome assay methods for elucidating transcriptional cycles by using NGS, various projects have been done. As genetic aberrations involving abnormal transcriptional cycles, we found mutations of five genes encoding subunits of BAF complex and its downstream SOX11 in patients with Coffin-Siris syndrome. Among these 6 genes, deletions or truncation mutations were found only in ARID1B and only missense mutations were found in the other five genes. SMARCA2 duplications were also found in two cases of Coffin-Siris syndrome, implying that fine quantity regulation of each BAF complex subunits is needed for sophisticated transcriptional regulation.
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