2004 Fiscal Year Final Research Report Summary
MOLECULAR ANALYSIS OF MOUSE HEREDITARY CATARACT
| Project/Area Number |
15300142
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Laboratory animal science
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| Research Institution | Kyoto University |
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Principal Investigator |
TSURUYAMA Tatsuaki Kyoto University, Graduate School of Medicine, Assistant professor, 医学研究科, 助手 (00303842)
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| Co-Investigator(Kenkyū-buntansha) |
HAYASHIZAKI Yoshihide RIKEN Yokohama Institute, Project Leader, 横浜研究所, プロジェクトリーダー (70192705)
TOYOKUNI Shinya Kyoto University, Graduate School of Medicine, Associate Professor, 医学研究科, 助教授 (90252460)
YAMADA Yoshihiro Kyoto University, Graduate School of Medicine, Lecturer, 医学研究科, 講師 (30252464)
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| Project Period (FY) |
2003 – 2004
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| Keywords | Cataract / Genetic analysis / RLC / Rescue / Dock180 / Signaling / Mouse / Lens |
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| Research Abstract |
Rupture of lens cataract (RLC) is a hereditary cataract in the mouse inherited by single autosomal recessive mutation. At about 35-days of age, degeneration of lens fibers at posterior pole occurs and results in lens rupture by defective binding between lens fibers or between fiber-capsule. We mapped the responsible locus rls at the map position 28.5 cM on chromosome 14. In collaboration with Hayashizaki's laboratory in RIKEN, we investigated the library of full size cDNA and identified a 27 bp nucleotide defect in DOCK180, causing deletion of 8 amino adds. The mutant phenotype was completely rescued in the rlc/rlc mice introduced the wild type Dock180 cDNA driven by crystalline promoter. The rlc mutation of Dock180 reduced activation of Rac, so that intracellular signaling of cell adhesion or cell motility are affected. This functional failure leads to repture of lens during expansive growth of lens. This is the first report of pathogenetilc role of Dock180. This study will shed new light on molecular anatomy of eye lens and also physiological function of Dock180.
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Research Products
(13 results)
