Molecular mechanism of autism based on abnormalities of synaptic genes expression using iPS cells of Rett syndrome
| Project/Area Number |
25860852
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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 |
Pediatrics
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| Research Institution | University of Yamanashi |
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Principal Investigator |
MIYAKE Kunio 山梨大学, 総合研究部, 助教 (60550712)
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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 |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | エピジェネティクス / 発達障害 / レット症候群 / iPS細胞 / DNAメチル化 / ヒストン修飾 / 自閉症 / ＭＥＣＰ２ / MeCP2 |
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| Outline of Final Research Achievements |
We investigated the expression mechanisms of MeCP2 target genes in the neuronal cell lines and induced pluripotent stem cells (iPSCs) derived from Rett syndrome patients. As a result, we found that Lin7a gene was activated by MeCP2. Furthermore, we found that gene expression pattern was different between MeCP2 positive iPSCs-derived neural cells and MeCP2 negative cells. These results suggest that MeCP2 has an important function during neuronal differentiation and synaptic maturation.
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Report
(3 results)
Research Products
(21 results)
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[Journal Article] A Female Patient with Incomplete Hemophagocytic Lymphohistiocytosis Caused by a Heterozygous XIAP Mutation Associated with Non-Random X-Chromosome Inactivation Skewed Towards the Wild-Type XIAP Allele2015
Author(s)
Yang X, Hoshino A, Taga T, Kunitsu T, Ikeda Y, Yasumi T, Yoshida K, Wada T, Miyake K, Kubota T, Okuno Y, Muramatsu H, Adachi Y, Miyano S, Ogawa S, Kojima S, Kanegane H
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Journal Title
J Clin Immunol
Volume: 35(3)
Issue: 3
Pages: 244-8
DOI
Related Report
Peer Reviewed
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[Journal Article] Comparison of genomic and epigenomic expression in monozygotic twins discordant for Rett syndrome2013
Author(s)
Miyake K, Yang C, Minakuchi Y, Ohori K, Soutome M, Hirasawa T, Kazuki Y, Adachi N, Suzuki S, Itoh M, Goto Y, Andoh T, Kurosawa H, Akamatsu W, Oyama M, Okano H, Oshimura M, Sasaki M, Toyoda A, Kubota T
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Journal Title
PLoS ONE
Volume: 8
Issue: 6
Pages: e66729-e66729
DOI
Related Report
Peer Reviewed
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[Presentation] 発達障害とエピジェネティクス2014
Author(s)
三宅 邦夫
Organizer
日本ストレス学会学術総会 第30回記念大会
Place of Presentation
日本大学文理学部百周年記念館（世田谷区・東京）
Year and Date
2014-11-07 – 2014-11-08
Related Report
Invited
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