How the dosage of a Down syndrome candidate gene affects neural circuitry and behaviour

唐氏综合症候选基因的剂量如何影响神经回路和行为

• 批准号: nhmrc : 1105792
• 负责人: A/Pr Bruno Van Swinderen
• 金额: $ 28.52万
• 依托单位: The University of Queensland
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 2018-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/dosage-syndrome-candidate-circuitry-behaviour/662856
• 关键词: How; dosage; Down; syndrome; candidate

In Down syndrome, an extra copy of chromosome 21 increases gene expression and leads to brain defects. We hypothesise that one candidate gene, Dscam2, changes its function with increased expression. This causes brain cells that normally stick to each other to repel each other, leading to inappropriate connections in the brain. We will test this model in the fruit fly and demonstrate for the first time a mechanism dependent on gene expression that can lead to brain abnormalities in Down syndrome.

在唐氏综合症中，21号染色体的额外拷贝增加了基因表达，导致大脑缺陷。我们假设一个候选基因Dscam 2随着表达的增加而改变其功能。这会导致通常相互粘附的脑细胞相互排斥，导致大脑中的不适当连接。我们将在果蝇中测试这个模型，并首次证明依赖于基因表达的机制可以导致唐氏综合症的大脑异常。