Uncovering new epigenetic-based regulatory mechanisms of gene expression: novel links between histone variants, RNA function and disease

揭示新的基于表观遗传的基因表达调控机制：组蛋白变异、RNA 功能和疾病之间的新联系

• 批准号: nhmrc : 1142399
• 负责人: Prof David Tremethick
• 金额: $ 71.24万
• 依托单位: Australian National University
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 2021-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/uncovering-new-epigenetic-function-disease/1319698
• 关键词: Uncovering; new; epigenetic; based; regulatory

It is estimated that greater than 90% of human genes undergo alternative RNA splicing, which can explain how protein diversity is achieved with a limited number of genes. However, how alternative splicing patterns are established remains poorly understood but is an important question given that 15-50% of human disease mutations are associated with changes to the splicing patterns of RNA. We have uncovered a new splicing mechanism, which involves changing the way DNA is packaged in a cell.

据估计，超过90%的人类基因经历选择性RNA剪接，这可以解释如何用有限数量的基因实现蛋白质多样性。然而，选择性剪接模式是如何建立的仍然知之甚少，但鉴于15-50%的人类疾病突变与RNA剪接模式的变化有关，这是一个重要的问题。我们发现了一种新的剪接机制，它涉及改变DNA在细胞中的包装方式。