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 : GNT1127209
• 负责人: A/Pr Justin O'Sullivan
• 金额: $ 54.66万
• 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 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/understanding-defects-chromosome-cause-disease/1347609
• 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的正确折叠对细胞的生存至关重要。这是由一类特殊的蛋白质，称为凝聚素。凝聚素的缺陷会导致染色体异常折叠和疾病。我们的目标是了解凝聚素如何折叠染色体，以及为什么凝聚素的突变越来越多地与疾病相关。