Exploration of disease-causative and -associated genes and prospect of novel molecular/cellular phenomenon

致病及相关基因的探索及新型分子/细胞现象的展望

• 批准号: 17019027
• 负责人: MINOSHIMA Shinsei
• 金额: $ 42.3万
• 依托单位: Hamamatsu University School of Medicine
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research on Priority Areas
• 财政年份: 2005
• 资助国家: 日本
• 起止时间: 2005 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-17019027/
• 关键词: ゲノム悉皆解析法; 拡張侯補遺伝子アプローチ; データベース; 光関連疾患; 遺伝性眼疾患; 緑内障; 加齢黄斑変性; 遺伝学; 遺伝子; ゲノム; 情報工学; 脳神経疾患; 原因遺伝子; 遺伝子変異; モデル動物; 拡張候補遺伝子アプローチ

Using various techniques based on genomic analysis, we approached the onset mechanism of glaucoma and age-related macular degeneration (AMD) which lead the cause of blindness in Japan. For glaucoma, we newly isolated the proteins which interact with either of myocilin or optineurin. From the known functions of those interacting proteins, involvement of novel phenomenon and cellular function in the development of glaucoma was suggested. For AMD, a rat experimental model of retinal photic injury was employed. Since the susceptibility in the retinal photic injury by irradiation of visible light depended on the rat strain, we performed a genetic analysis to identify the responsible genes. Two loci on rat chromosome 5 and 19 were necessary for the 'susceptible' trait. Cloning of these 2 responsible genes is ongoing to analyze the possible association of their human counterparts on the onset of AMD will be done.

利用基于基因组分析的各种技术，我们探讨了导致日本失明的青光眼和年龄相关性黄斑变性（AMD）的发病机制。对于青光眼，我们新分离的蛋白质相互作用的肌球蛋白或视神经磷酸酶。从这些相互作用蛋白的已知功能，参与青光眼的发展中的新现象和细胞功能的建议。对于AMD，采用视网膜光损伤的大鼠实验模型。由于可见光照射引起的视网膜光损伤的易感性取决于大鼠品系，因此我们进行了遗传分析以确定负责基因。大鼠5号和19号染色体上的两个位点是“易感”性状所必需的。这两个相关基因的克隆正在进行中，以分析其人类对应基因与AMD发病的可能关联。

项目成果

Iron release analyses from ferritin by visible light irradiation

• DOI: 10.1080/10715760500177807
• 发表时间: 2005-08-01
• 期刊: FREE RADICAL RESEARCH
• 影响因子: 3.3
• 作者: Ohishi, K;Zhang, XM;Matsugo, S
• 通讯作者: Matsugo, S

Construction of independent LSDBs with smooth user-interface and real-time analysis function using MutationView softwares, MV4LSDB.

使用 MutationView 软件 MV4LSDB 构建具有流畅用户界面和实时分析功能的独立 LSDB。

• 发表时间: 2008
• 作者: Ohtsubo;M.;Minoshima;S.;Kawaguchi;K.;Adachi;K.;Horisawa;T.;Shimizu;N.
• 通讯作者: N.

Genetic approach for mapping genes responsible for susceptibility to photic injury in the rat retina

绘制大鼠视网膜光损伤易感性基因的遗传方法

• 发表时间: 2008
• 期刊: Photomed. Photobiol 30
• 作者: Ohishi;K.;et.al.
• 通讯作者: et.al.

Mutation View/KMcamcerDB : a database for cancer gene mutations.

Mutation View/KMcamcerDB：癌症基因突变数据库。

• 发表时间: 2007
• 期刊: Cancer Science 98
• 作者: Shimizu;N.
• 通讯作者: N.

A new version of MutationView : Enhanced searching function and significant increase of the number of genes with variation data

MutationView新版本：搜索功能增强，变异数据基因数量大幅增加

• 发表时间: 2009
• 作者: Ohtsubo;M.;et al.
• 通讯作者: et al.