标题： 突变与疾病相关基因电子性质的相互作用 显示英文标题

标题： The interplay of mutations and electronic properties in disease-related genes

摘要： DNA的电子性质被认为在生物体中的许多现象中起着关键作用，例如碱基切除修复（BER）糖基酶对DNA损伤位置的定位，以及通过检测氧化损伤来调控肿瘤抑制基因如p53。 然而，在纳米尺度上对DNA分子中的电荷迁移进行可重复的测量和建模仍然是一个具有挑战性和争议性的课题，即使经过十多年的大量努力。 在这里，我们通过分析来自多种医学数据库的162个与疾病相关的基因，这些基因总共包含了近20,000个观察到的致病突变，发现观察到的突变群体的电子性质与所有可能突变的集合之间存在显著差异。 我们的结果对DNA电子性质在细胞过程中的作用具有重要意义，并暗示了预测、早期诊断和检测突变热点的可能性。 显示英文摘要

摘要： Electronic properties of DNA are believed to play a crucial role in many phenomena in living organisms, for example the location of DNA lesions by base excision repair (BER) glycosylases and the regulation of tumor-suppressor genes such as p53 by detection of oxidative damage. However, the reproducible measurement and modelling of charge migration through DNA molecules at the nanometer scale remains a challenging and controversial subject even after more than a decade of intense efforts. Here we show, by analysing 162 disease-related genes from a variety of medical databases with a total of almost 20,000 observed pathogenic mutations, a significant difference in the electronic properties of the population of observed mutations compared to the set of all possible mutations. Our results have implications for the role of the electronic properties of DNA in cellular processes, and hint at the possibility of prediction, early diagnosis and detection of mutation hotspots.