Sequencing of Epigenetic Marks

最终目标是更准确地对哺乳动物基因组进行测序，首次识别出除了4个初级碱基之外的5-甲基胞嘧啶(5mC)和5-羟甲基胞嘧啶(5hmC)的DNA碱基(表观遗传标记)。这将导致对细胞功能的更好了解，对干细胞研究、个性化和再生药物具有重要意义，并显示出巨大的商业用途。体内的所有细胞都有相同的DNA序列，但其解释(表观遗传学)会导致不同类型的细胞的形成。5-MC是一个众所周知的表观遗传标记，但5-HMC的功能尚不清楚。我们的方法在DNA中具体定位和量化这些表观遗传标记。我们将对这种方法进行优化，使其在更困难的细胞类型和整个人类基因组上得到更广泛的商业应用。破译这些表观遗传标记将提供对细胞调控的更多了解，并可能开辟诊断疾病的新方法。

The ultimate goal is to more accurately sequence the mammalian genome, for the first time identifying both of the modified DNA bases (epigenetic marks) of 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) in addition to the 4 primary bases. This will lead to better knowledge of cell function, have important implications in stem cell research, personalised and regenerative medicines, and show substantial commercial utility. All cells in the body have the same DNA sequence but its interpretation (epigenetics) results in formation of different cell types. 5-mC is a well-known epigenetic mark, but the function of 5-hmC is as yet unknown. Our method specifically locates and quantifies these epigenetic marks together in DNA. We will optimise this method to allow its commercial use more widely on more difficult cell types and the whole human genome. Decoding these epigenetic marks will provide greater understanding of cell regulation and could open up new ways of diagnosing disease.