Evolution of biological systems and environmental changes: Understanding adaptation mechanisms to environmental changes which are inscribed in the human genome
| Project/Area Number |
25291081
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Partial Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Evolutionary biology
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| Research Institution | The Graduate University for Advanced Studies |
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Principal Investigator |
Satta Yoko 総合研究大学院大学, 先導科学研究科, 教授 (20222010)
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| Co-Investigator(Kenkyū-buntansha) |
HAYAKAWA Toshiyuki 九州大学, 基幹教育院, 准教授 (80418681)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| 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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| Keywords | 環境適応 / 疾患関連遺伝子 / 自然選択 / リスク転換 / 祖先型 / EHH解析 / プロモータ活性 / 1000人ゲノム / 東アジア集団 / 脱アフリカ / 疾患関連SNP / ハプロタイプ / 疾病関連遺伝子 / リスク型・非リスク型 / 霊長類 / 遺伝子 / 環境変異 / リスク型 / 固定 |
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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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Report
(4 results)
Research Products
(8 results)
