Understanding how defects in chromosome structure can cause disease

了解染色体结构缺陷如何导致疾病

• 批准号: nhmrc : 1127209
• 负责人: Dr Damien Hudson
• 金额: $ 37.34万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 2020-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/understanding-defects-chromosome-cause-disease/947965
• 关键词: Understanding; how; defects; chromosome; structure

The correct folding of DNA is critical to a cell's survival. This is orchestrated by a special class of proteins called the condensins. Defects in condensin lead to aberrant chromosome folding and disease. We aim to understand how condensin folds chromosomes and why mutations in condensin are increasingly associated with disease.

DNA 的正确折叠对于细胞的生存至关重要。这是由一类特殊的蛋白质（称为凝缩蛋白）精心策划的。凝缩蛋白的缺陷会导致染色体折叠异常和疾病。我们的目标是了解凝缩蛋白如何折叠染色体以及为什么凝缩蛋白的突变与疾病越来越相关。