Investigation of processed snoRNAs as cryptic regulators of the imprinted Prader-Willi syndrome locus

研究加工后的 snoRNA 作为印记普瑞德-威利综合征基因座的隐秘调节因子

• 批准号: nhmrc : 1043023
• 负责人: Dr Guy Barry
• 金额: $ 44.94万
• 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: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2016-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/investigation-processed-snornas-syndrome-locus/111534
• 关键词: Investigation; processed; snoRNAs; cryptic; regulators

Prader-Willi syndrome (PWS) is a devastating disorder whose symptoms include intellectual disability and compulsive eating. PWS occurs when a piece of the genome is mistakenly deleted, but why this DNA is important is still not understood. Our data indicate that the deleted DNA encodes a suite of previously hidden genetic elements, and here we proposed using the latest high-throughput DNA and RNA sequencing and stem cell technologies to finally unravel this mystery.

Prader-Willi综合征（PWS）是一种毁灭性的疾病，其症状包括智力障碍和强迫性进食。当基因组的一部分被错误地删除时，PWS就会发生，但是为什么这种DNA很重要仍然不清楚。我们的数据表明，被删除的DNA编码了一套以前隐藏的遗传元件，在这里，我们建议使用最新的高通量DNA和RNA测序以及干细胞技术来最终解开这个谜团。