Budget Amount *help |
¥17,550,000 (Direct Cost: ¥13,500,000、Indirect Cost: ¥4,050,000)
Fiscal Year 2015: ¥5,980,000 (Direct Cost: ¥4,600,000、Indirect Cost: ¥1,380,000)
Fiscal Year 2014: ¥5,980,000 (Direct Cost: ¥4,600,000、Indirect Cost: ¥1,380,000)
Fiscal Year 2013: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
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Outline of Final Research Achievements |
In life-style related diseases or mental disorders, environmental factors may often play significant roles. Curiously, genes associated with such diseases often carry ancestral but risk types of SNPs in humans. To test the rather paradoxical idea of “ancestral risk,” we examined polymorphism at and near the STX locus in relation to the evolutionary mechanisms acting at the locus. STX encodes a sialyltrasferase that produces poly-sialic acids that play an important role in brain function. In the promoter region of the gene, three SNPs are associated with Schizophrenia. Four promoter types of these SNP combinations are known to highly correlate with the promoter activity. An ancestral risk type shows the high activity. In contrast, one non-risk type has the low promoter activity and it shows an unusually high frequency in East Asians but the low genetic diversity within the type. Population genomics suggests positive selection acting on the derived non-risk type of the STX promoter.
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