Epigenetics and Imprinting Laboratory, Cancer Research UK Cambridge Research Institute, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.
Biochem Soc Trans. 2013 Jun;41(3):697-9. doi: 10.1042/BST20130051.
Our advances in technology allow us to sequence DNA to uncover genetic differences not only between individuals, but also between normal and diseased cells within an individual. However, there is still a lot we have yet to understand regarding the epigenetic mechanisms that also contribute to our individuality and to disease. The 80th Biochemical Society Annual Symposium entitled Epigenetic Mechanisms in Development and Disease brought together some leading researchers in the field who discussed their latest insights into epigenetic mechanisms. Methylation of DNA has been the focus of much study from both a developmental perspective and imprinting of genes to its contribution to diseases such as cancer. Recently, the modification of methylcytosine to hydoxymethylcytosine within cells was uncovered, which opened a host of potential new mechanisms, and a flurry of new studies are underway to uncover its significance. Epigenetics is not confined to a study of DNA, and the post-translational modifications on the histone proteins have a significant role to play in regulating gene expression. There are many different modifications and, as shown at the Symposium, new variations used by cells are still being uncovered. We are some way to identifying how these modifications are added and removed and the protein complexes responsible for these changes. A focus on the function of the complexes and the interactions between individual modifications to regulate gene expression is advancing our knowledge, as discussed in the accompanying papers, although there are clearly plenty of opportunities for new breakthroughs to be made.
我们在技术上的进步使我们能够对 DNA 进行测序,以揭示不仅在个体之间,而且在个体内部的正常和患病细胞之间的遗传差异。然而,我们还有很多关于表观遗传机制的知识需要了解,这些机制也有助于我们的个体差异和疾病。第 80 届生化学会年会题为“发育和疾病中的表观遗传机制”的研讨会汇集了该领域的一些顶尖研究人员,他们讨论了他们在表观遗传机制方面的最新见解。DNA 的甲基化一直是研究的焦点,无论是从发育的角度还是从基因印记的角度来看,它都对癌症等疾病有贡献。最近,细胞内甲基胞嘧啶被修饰为羟甲基胞嘧啶的现象被揭示出来,这开辟了许多潜在的新机制,并且正在进行大量新的研究来揭示其意义。表观遗传学不仅局限于 DNA 的研究,组蛋白蛋白的翻译后修饰在调节基因表达方面也起着重要作用。有许多不同的修饰,正如研讨会上所展示的,细胞仍在发现新的变体。我们已经确定了这些修饰是如何添加和去除的,以及负责这些变化的蛋白质复合物。正如相关论文所讨论的,关注复合物的功能以及单个修饰之间的相互作用以调节基因表达正在推进我们的知识,尽管显然有很多机会取得新的突破。