mechanism of giantism caused by histone methyltransferase gene abnormality
| Project/Area Number |
17K16164
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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 |
Endocrinology
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| Research Institution | Kobe University |
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Principal Investigator |
Suda Kentaro 神戸大学, 医学部附属病院, 医員 (50791422)
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| Research Collaborator |
NISHIZAWA hitoshi
BANDO hironori
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| Project Period (FY) |
2017-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | 巨人症 / 遺伝子変異 / 成長ホルモン / インスリン様成長因子 / ヒストンメチル化 / SOCS2 / 遺伝子 / 内科 / 臨床 |
|---|
| Outline of Final Research Achievements |
Analysis was performed using cells from the patient with Luscan-Lumish syndrome. The histone methylation by mutated SETD2 was not significantly changed, but the GH induced phosphorylation of STAT5b was enhanced. The binding ability of SETD2 protein with those related with GH signal was examined, and SETD2 was bound to SOCS2. The overexpression of SETD2 promotes the GH induced phosphorylation of STAT5b and the expression of SOCS2 was decreased. The methylation of SOCS2 by SETD2 was not changed. Mutated SETD2 might impair the function of SOCS2 in unexplained mechanism and might affect the height, so we prepared the SETD2-deficient cells for further analysis.
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| Academic Significance and Societal Importance of the Research Achievements |
SETD2の変異が高身長を起こす機序のみでなく、同様のヒストンメチル基転移酵素であるNSD1, EZH2の身長を規定する共通の機序の解明にもつながり、本症例でみられる高身長症例のみならず、他の高身長や低身長など成長障害の新たな治療法につながる新たな知見を得ることができると考えている。
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Report
(3 results)
Research Products
(3 results)
