Analysis of skin disease gene and its modeling

皮肤病基因分析及其建模

• 批准号: 06670874
• 负责人: YAMANISHI Kiyofumi
• 金额: $ 1.34万
• 依托单位: Kyoto Prefectural University of Medicine
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (C)
• 财政年份: 1994
• 资助国家: 日本
• 起止时间: 1994 至 1995
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-06670874/
• 关键词: skin diseases; keratinocytes; gene analysis; gene regulation; gene targeting; transglutaminase 1; keratin; hereditary diseases; 発現調節; 角化症; 葉状魚鱗癬; ES細胞; skin diseases; keratinocytes; gene analysis; gene regulation; gene targeting; transglutaminase 1; keratin; hereditary diseases; 発現調節; 角化症; 葉状魚鱗癬; ES細胞

Great progress is being made in the elucidation of disease genes, especially in hereditary skin diseases, by genome analysis, including functional and positional cloning. In more than 50 skin disorders, not only the chromosomal localizations, but also the adnormalities of the disease genes have been identified. The isolation of disease genes and their model mice is expected to revolutionize our understanding of the pathogenesis and diagnosis of these skin disorders and to provide a way for therapy. In this research, we have analyzed the structure and function of transglutaminase 1 gene, a disease gene for autosomal recessive lamellar ichthyosis. A gene-targeting model for the disease gene will be helpful for development of gene therapy for the hereditary skin disorder.

通过基因组分析（包括功能和位置克隆）阐明疾病基因，尤其是在遗传性皮肤疾病中，正在取得巨大进展。在50多种皮肤疾病中，不仅染色体局部局部，而且还鉴定出疾病基因的依赖性。预计疾病基因及其模型小鼠的隔离将彻底改变我们对这些皮肤疾病的发病机理和诊断的理解，并提供一种治疗方法。在这项研究中，我们分析了转谷氨酰胺酶1基因的结构和功能，这是一种常染色体隐性层状层状鱼质的疾病基因。该疾病基因的基因靶向模型将有助于为遗传皮肤疾病开发基因疗法。