| Project/Area Number |
25670476
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Tottori University |
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Principal Investigator |
NANBA EIJI 鳥取大学, 生命機能研究支援センター, 教授 (40237631)
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| Co-Investigator(Kenkyū-buntansha) |
HIGAKI Katsumi 鳥取大学, 生命機能研究支援センター, 准教授 (90294321)
ADACHI Kaori 鳥取大学, 生命機能研究支援センター, 助教 (50609237)
OOBAYASHI Tetsuya 鳥取大学, 生命機能研究支援センター, 准教授 (80348804)
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| Research Collaborator |
GOTO Yu-ichi
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | HOX遺伝子 / ヒスチジンリピート / 知的障害 / 遺伝子変異 |
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| Outline of Final Research Achievements |
We have conducted the genetic and functional analyses of polyhistidine tract expansion mutations in HOXA1 gene. Genetic analyses were performed in 106 samples, collected as the Intellectual Disability Bioresources in National Center of Neurology and Psychiatry, and identified heterozygous mutations in three cases. The allele frequency of homozygous mutation was estimated to be 1/2500. We halso made an expression constructs containing human HOXA1 cDNA under the HOXA1 promoter fused with luciferase gene and conducted functional analyses in cultured cells.
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