Construction of cell-culture based assay system to understand CGG repeat instability in Fragile X syndrome
| Project/Area Number |
24770005
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Genetics/Genome dynamics
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| Research Institution | Tottori University |
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Principal Investigator |
NAKAYAMA Yuji 鳥取大学, 生命機能研究支援センター, 助教 (40432603)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | 脆弱X症候群 / トリプレットリピート / 染色体工学 / 細胞融合 / 脆弱エックス症候群 |
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| Research Abstract |
The human Fragile X mental retardation 1 (FMR1) gene, which contains CGG-trinucleotide repeat in its 5'UTR region, is responsible gene for Fragile X syndrome (FXS). The number of CGG-repeat is about 50 to 200 in carriers (so-called 'premutation allele') and more in patients. CGG-repeat becomes unstable and in most cases expands upon maternal inheritance of premutation allele to children. However, the mechanism underling CGG-repeat instability is unknown to date. In the present study, toward elucidation the molecular and cellular mechanism in CGG-repeat instability, we tried to establish a cell culture-based system that enables to reproduce CGG-repeat instability in vitro. We applied chromosomal engineering so that we could clone and handle CGG-repeat tract as a chromosomal domain stably. We successfully cloned natural and artificial chromosomes that contain varying size of CGG-repeats in rodent cell lines.
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Report
(3 results)
Research Products
(7 results)
