Investigation of processed snoRNAs as cryptic regulators of the imprinted Prader-Willi syndrome locus
Investigation of processed snoRNAs as cryptic regulators of the imprinted Prader-Willi syndrome locus
批准号:
nhmrc : 1043023
负责人:
Dr Guy Barry
金额:
$44.94万
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
项目状态:
已结题
起止时间:
2013-01-01 至 2016-12-31
中文摘要
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。
英文摘要
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.
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