2012 Fiscal Year Final Research Report
Functional analysis using genetically modified mice of TMEM16E
| Project/Area Number |
23792345
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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 |
Surgical dentistry
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| Research Institution | Hiroshima University |
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Principal Investigator |
MIZUTA Kuniko 広島大学, 大学院・医歯薬保健学研究院(歯), 助教 (40432679)
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| Project Period (FY) |
2011 – 2012
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| Keywords | TMEM16E / 顎骨骨幹異形成症 / 肢体型筋ジストロフィー / ノックアウトマウス |
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| Research Abstract |
In this study, for the purpose of functionalanalysis of TMEM16E gene that is a gene responsible for autosomal recessive limb-girdle muscular dystrophy (LGMD2) and autosomal dominant Gnathodiaphyseal dysplasia (GDD), I performed the physiological function analysis of TMEM16E using TMEM16E knockout mice. Visibly, obvious phenotype was not observed in TMEM16E knockout mice. However we evaluated the systemic organ of adult mice histopathologically and found of ventricular wall thinning and ventricular dilatation. Furthermore, it has been reported that TMEM16A and TMEM16B of TMEM16 family genes have function ascalcium-dependent chloride channel. In TMEM16E stable overexpressing cell line, TMEM16E gene products had no significant chloride channel activity. We showed that TMEM16E has a unique role which is different from the TMEM16 family genes other.
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