Enhancer trap analysis for Autism Spectrum Disorder associated locus by utilizing Human BAC transgenic mouse methodology
| Project/Area Number |
24510280
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Medical genome science
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| Research Institution | National Center of Neurology and Psychiatry |
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Principal Investigator |
INOUE Yukiko 独立行政法人国立精神・神経医療研究センター, 神経研究所 疾病研究第六部, 流動研究員 (30611777)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | 自閉症スペクトラム / SNP / ヒトBAC / BACトランスジェニックマウス / アンチセンスRNA / Moesin |
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| Outline of Final Research Achievements |
A recent genome-wide association study indicated a significant association of ASD with the SNPs, rs4307059 and five others, located in a gene-poor region between CDH10 and CDH9 on chromosome 5p14.1. In addition, the transcription of a novel noncoding RNA antisense to Moesin mRNA from this ASD risk SNP region was reported.
In the present study, we applied bacterial artificial chromosome (BAC) based transgenic mouse methodology to analyze the enhancer activities of this risk SNP region. By using BACs containing the human genome sequences around the SNPs, we revealed that the region harbored the neocortical area, striatum and cerebellum specific enhancers for the aforementioned antisense RNA. Considering the actin filament linking ability of Moesin at axonal growth cones, balancing machinery of Moesin protein expression at distinct brain regions that relate to clinical conditions might well explain the common features of ASD.
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Report
(4 results)
Research Products
(14 results)
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[Journal Article] Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH2015
Author(s)
Ito Y, Inoue N, Inoue YU, Nakamura S, Matsuda Y, Inagaki M, Okubo T, Asami J, Terakawa YW, Kohsaka S, Goto Y, Akazawa C, Inoue T, Inoue K
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Journal Title
Neurobiology of Disease
Volume: In Press
Pages: 1-14
DOI
Related Report
Peer Reviewed
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[Journal Article] Temporal identity transition from Purkinje cell progenitors to GABAergic interneuron progenitors in the cerebellum.2014
Author(s)
Seto Y, Nakatani T, Masuyama N, Taya S, Kumai M, Minaki Y, Hamaguchi A, Inoue YU, Inoue T, Miyashita S, Fujiyama T, Yamada M, Chapman H, Campbell K, Magnuson MA, Wright CV, Kawaguchi Y, Ikenaka K, Takebayashi H, Ishiwata S, Ono Y, Hoshino M.
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Journal Title
Nature Communications
Volume: 5
Issue: 1
Pages: 3337-3337
DOI
Related Report
Peer Reviewed
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