| Project/Area Number |
16K06987
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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 |
Neurophysiology / General neuroscience
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| Research Institution | University of Tsukuba |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
桝 正幸 筑波大学, 医学医療系, 教授 (20243032)
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | マウス / 脊髄運動神経 / 変異 / ゲノム異常 / ゲノム編集 / 神経軸索 / ゲノム / 次世代シークエンス / 突然変異 / 軸索ガイダンス / 変異マウス / 遺伝子 |
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| Outline of Final Research Achievements |
Neural circuits are formed by accurate guidance of growing axons towards their targets by the actions of attractants and repellents during development. Previous studies have revealed the roles of axon guidance molecules and their receptors, but the molecular mechanisms that control motor axon guidance have not been completely elucidated. I have been trying to identify the gene responsible for the spinal motor axon defects in a spontaneous mouse mutant line. Previously I mapped the critical region by linkage analysis and determined the sequences of all the exons of all the genes in the region. However, loss of function mutations were not identified. In this study, I performed the re-sequence of the critical region and RNA-seq analysis to determine the genomic and genetic abnormalities. I also made genome-edited mouse lines to examine the roles of the genomic abnormalities identified by next generation sequencing.
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| Academic Significance and Societal Importance of the Research Achievements |
脊髄運動神経の軸索形成に関して今までに知られていない遺伝子を同定することができた。今後、この遺伝子の機能を解析することにより、新しい神経回路形成の分子機構を明らかにすることができる可能性がある。先天性の内反尖足はヒトでも高頻度で見られる異常であるが、その発症機序は不明であり、ごく少数例を除いては原因となる遺伝子異常が知られていない。本研究の成果がヒト内反尖足の遺伝的診断や治療法開発に繋がる可能性がある。
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