| 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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| 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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