Australian Centre for Vertebrate Mutation Detection (ACVMD)

澳大利亚脊椎动物突变检测中心 (ACVMD)

• 批准号: nhmrc : 461212
• 负责人: A/Pr Joan Heath
• 金额: $ 107.47万
• 依托单位: The Walter and Eliza Hall Institute of Medical Research
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Enabling Grants
• 财政年份: 2007
• 资助国家: 澳大利亚
• 起止时间: 2007-01-01 至 2012-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/australian-centre-vertebrate-detection-acvmd/96600
• 关键词: Australian; Centre; Vertebrate; Mutation; Detection

Over the last 20 years, generation and analysis of genetically modified animals has proven to be an important step in the transition from in vitro studies of gene function to in vivo studies and eventually clinical research. The remarkable parallels between the human, mouse and zebrafish genomes means that there are now many examples of mutations that cause or modify disease in humans, and which lead to similar phenotypes when present in mice and zebrafish. Until recently, the prime method of introducing mutations into specific genes of interest in the mouse (although still unavailable in the fish) was via homologous recombination, and the principal classes of mutations induced were large deletions or insertions. This type of mutation rarely occurs in humans. Rather, point mutations and single-nucleotide polymorphisms are the prevalent form of genetic variation. An alternative approach to the development of mouse models with the more relevant point mutations is TILLING (Targeting Induced Local Lesions IN Genomes). The goal of this Enabling Grant is to make TILLING technology accessible to the Australian research community and in doing so promote movement of research from the in vitro setting into animal models of disease.

过去20年来，转基因动物的产生和分析已被证明是从基因功能体外研究向体内研究乃至最终临床研究过渡的重要一步。人类、小鼠和斑马鱼基因组之间的显着相似性意味着，现在有许多导致或改变人类疾病的突变例子，并且当存在于小鼠和斑马鱼中时，这些突变会导致相似的表型。直到最近，将突变引入小鼠特定感兴趣基因的主要方法（尽管在鱼中仍然无法实现）是通过同源重组，诱导的突变的主要类别是大的缺失或插入。这种类型的突变很少发生在人类身上。相反，点突变和单核苷酸多态性是遗传变异的普遍形式。开发具有更相关点突变的小鼠模型的另一种方法是 TILLING（靶向基因组中诱导的局部损伤）。这项资助的目标是让澳大利亚研究界能够使用 TILLING 技术，并以此促进研究从体外环境转向疾病动物模型。