A Novel Method for the Detection and Analysis of CpG Methylation Sites

描述（由申请人提供）：在多细胞生物体中，DNA甲基化是一种重要的表观遗传修饰剂。它主要发生在胞嘧啶残基上，并且二核苷酸CpG中的5甲基胞嘧啶（5 meC）的出现在哺乳动物发育中起重要作用。甲基化模式因细胞类型而异，并在癌症中发生改变。为了更好地了解甲基化在健康和疾病中的作用，我们建议创建改进的试剂，以允许有效和准确地识别DNA中的5-甲基胞嘧啶（5 meC）残基。这些试剂将能够以单核苷酸精度鉴定5 meC位点，并与各种高通量方法兼容，包括DNA测序，微阵列分析和质谱法等。 公共卫生相关性：甲基化模式的改变有可能成为敏感和特异的诊断标志物。该提案旨在开发新的技术来检测和分析甲基化模式。该技术可能有助于开发改进的诊断和预后测试，以帮助检测和治疗人类疾病。

DESCRIPTION (provided by applicant): In multicellular organisms, DNA methylation is an important epigenetic modifier. It occurs predominantly on cytosine residues and the occurrence of 5 methyl cytosine (5meC) in the dinucleotide CpG plays important roles in mammalian development. Methylation patterns vary between cell types and are altered in cancer. In order to better understand the role of methylation in health and disease, we propose creating improved reagents that will allow for the efficient and accurate identification of 5-methyl cytosine (5meC) residues in DNA. These reagents will enable the identification of 5meC sites with single-nucleotide precision and are compatible with a variety of high-throughput methods, including DNA sequencing, microarray analysis, and mass spectrometry, among others. PUBLIC HEALTH RELEVANCE: Alterations in methylation patterns have the potential to be sensitive and specific diagnostic markers. This proposal aims to develop novel technology to detect and assay methylation patterns. The technology may be useful in developing improved diagnostic and prognostic tests to aid in detecting and treating human disease.