2018 Fiscal Year Final Research Report
Expression and functional analysis of the imprinting genes located in 15q11-13
| Project/Area Number |
16K19066
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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 |
Pathological medical chemistry
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| Research Institution | Institute of Physical and Chemical Research |
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Principal Investigator |
Tamada Kota 国立研究開発法人理化学研究所, 脳神経科学研究センター, 研究員 (10550957)
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Keywords | ゲノムインプリンティング / 自閉症 / 遺伝子発現 / Ndn |
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| Outline of Final Research Achievements |
The cytogenetic aberration of human chromosome 15q11-q13 causes neurodevelopmental disorders including autism, Prader-Willi (PWS) and Angelman syndrome (AS). Duplication of this region, called 15q11-13 duplication syndrome, is the most frequently found in cytogenetic abnormality in autism. Thus, precise expression of the genes in this region is critical for normal brain development. Previously, we modeled this chromosome duplication in mice and found paternally inherited duplication (patDp/+) causes abnormal social behaviors and serotonin imbalance.
In this study, we identified Ndn genes is critical not only for autistic like behaviors but synaptic development or cortical excitatory/inhibitory balance.
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| Free Research Field |
神経科学
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| Academic Significance and Societal Importance of the Research Achievements |
ヒト染色体15q11-13領域ではこれまでUbe3aという遺伝子のみが着目されてきた。しかし、近年になりUbe3aを含まない重複自閉症者が認められてきたことから、Ube3a以外の遺伝子も関与する可能性が挙げられてきた。しかし、その原因はこれまで明らかになっていない。本研究結果はNdnが新たな15q11-13領域中でのリスクとなり、自閉症発症分子メカニズム解明に向けた一歩となりうることを証明した成果となる。
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