2012 Fiscal Year Final Research Report
Epigenetic mechanism in autism disorder
| Project/Area Number |
23791156
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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, 医学工学総合研究部, 助教 (60550712)
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| Project Period (FY) |
2011 – 2012
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| Keywords | エピジェネティクス / 遺伝子発現 / レット症候群 / 自閉症 |
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| Research Abstract |
Rett syndrome is a neurodevelopmental and autistic disease caused by mutations of Methyl-CpG-binding protein 2 (MECP2) gene. MeCP2 protein binds to methylated gene promoters to suppress their expression, indicating that Rett syndrome is caused by the deregulation of target genes. However, it is likely that there are more unidentified neuronal MeCP2-targets associated with the neurological features of RTT. Using a genome-microarray approach, we found 22 genomic regionsthat contain sites potentially regulated by MeCP2. Within these regions, Chromatinimmunoprecipitation (ChIP) analysis revealed that MeCP2 binds to the upstream regions of the LIN7A, PCDHB1 and PCDH7. Since these genes are generally essential for brain development, aberrant regulation of these molecules may contribute to the pathogenesis of the neurological features observed in Rett syndrome.
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Research Products
(8 results)
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[Journal Article] The protocadherins, PCDHB1and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome2011
Author(s)
Miyake, K., Hirasawa, T., Soutome, M., Itoh, M., Goto, Y., et al
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Journal Title
BMC Neurosci
Volume: 12
Pages: e81
Peer Reviewed
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