2011 Fiscal Year Final Research Report
Functional and Structural Analysis on Familial Moyamoya Disease Associated Novel Huge Ubiquitin Ligase/ATPase
| Project/Area Number |
22710193
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Medical genome science
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| Research Institution | Kyoto Sangyo University (2011)
Kyoto University (2010) |
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Principal Investigator |
MORITO Daisuke 京都産業大学, 総合生命科学部, 特定研究員(PD) (20514251)
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| Project Period (FY) |
2010 – 2011
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| Keywords | ユビキチン / ATPアーゼ / モヤモヤ病 / 血管新生 / タンパク質複合体 |
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| Research Abstract |
We identified mysterin/RNF213 as a familial moyamoya disease susceptible gene, and succeeded to clone its cDNA. Further, we revealed its intracellular distribution, ubiquitin ligase and ATPase activities, and its participation in proper angiogenesis during normal development. Using purified mysterin protein, we revealed its structural properties. Moreover, we identified de-ubiquitinating enzyme as a mysterin binding protein through intracellular coimmunoprecipitation analysis, and revealed that the enzyme functionally associates with mysterin.
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