| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Outline of Final Research Achievements |
We searched for mutations in Japanese patients with primary microcephaly using a next-generation sequencer, and found novel mutations in the WDR62/MCPH2 gene in the siblings. To study the functional role of WDR62 in neuronal development, we established a WDR62 knockout cell line using CRISPR/Cas9 system. The cell line showed abnormal mitotic spindle formation. This may result in depletion of neuronal progenitor cells, which lead to reduced brain size in early development.
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