2005 Fiscal Year Final Research Report Summary
Investigation of A Child Disease with Epigenetic Disorder -Rett Syndrome-
| Project/Area Number |
15390330
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | University of Yamanashi |
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Principal Investigator |
KUBOTA Takeo University of Yamanashi, Department of Research Interdisciplinary Graduate School of Medicine and Engineering, Professor, 大学院・医学工学総合研究部, 教授 (70293511)
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| Co-Investigator(Kenkyū-buntansha) |
NAGAI Kaoru University of Yamanashi, Department of Research Interdisciplinary Graduate School of Medicine and Engineering, Associate Professor, 大学院・医学工学総合研究部, 助教授 (20340953)
ENDOH Kazushi University of Yamanashi, Department of Research Interdisciplinary Graduate School of Medicine and Engineering, Associate Professor, 大学院・医学工学総合研究部, 助手 (70176791)
KOHSAKA Shin-ichi National Institute of Neuroscience, NCNP, Department of Neurochemistry, Director, 神経研究所, 部長 (50112686)
ITOH Masayuki National Institute of Neuroscience, NCNP, Department of Mental Retardation Research, Research Head, 神経研究所, 室長 (50243407)
GOTO Yu-ichi National Institute of Neuroscience, NCNP, Department of Mental Retardation Research, Director, 神経研究所, 部長 (20225668)
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| Project Period (FY) |
2003 – 2005
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| Keywords | epigenetics / mental retardation / Rett syndrome / DNA methylation / MeCP2 / neuronal cell / glial cell / phosphorylation |
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| Research Abstract |
[Aim]
Rett syndrome is an autistic disease caused by MeCP2 gene mutations. However, what happened in the brain is remained to be clarified. The aim of this project to know abnormalities in the brain cells when MeCP2 protein do not function well.
[1st fiscal year]
We identified that spine formation on dendrites of neurons in primary neuronal cells derived from the brain of MeCP2 knock-out mouse (together with other findings, the manuscript is in preparation).
[2nd fiscal year]
We identified that MeCP2 protein is expressed in not only in neurons but also in glial cells. We also found that MeCP2 malfunction results in growth retardation of glial cells, suggesting that microcephaly seen in Rett syndrome patients may be related to the growth retardation of glial cells during early development (Nagai et al., Dev Brain Res 2005).
[3rd fiscal year]
We identified that MeCP2 protein is expressed in not only in the nucleus but also cytosol of a neuronal cell, and that cytosolic MeCP2 is phosphorylated whereas nucleic MeCP2 is not, suggesting that transport of MeCP2 from cytosol may be associated with phosphorylation (Manuscript submitted).
[Further experiment]
The findings in this project will contribute to the understanding of pathogenesis of Rett syndrome and other autistic diseases.
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Research Products
(24 results)
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[Journal Article] Methylation status of the p15 and p16 genes in paediatric myelodysplastic syndrome and juvenile myelomonocytic leukaemia.2005
Author(s)
Hasegawa D, Manabe A, Kubota T, Kawasaki H, Hirose I, Ohtsuka Y, Tsuruta T, Ebihara Y, Goto Y, Zhao XY, Sakashita K, Koike K, Isomura M, Kojima S, Hoshika A, Tsuji K, Nakahata T.
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Journal Title
Br J Haematol 128
Pages: 805-812
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Severe Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15;22)(q14;11.2) translocation.2003
Author(s)
Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi E, Sutcliffe JS, Fukushima Y, Katsuyama T.
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Journal Title
Clinical Genet 63
Pages: 79-81
Description
「研究成果報告書概要(欧文)」より
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