疾病相关基因中突变和电子性质的相互作用
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的许多现象中发挥着至关重要的作用，例如通过碱基切除修复（BER）糖基化酶定位DNA损伤以及通过检测氧化损伤来调节肿瘤抑制基因（例如p53）。然而，即使经过十多年的努力，在纳米尺度上通过DNA分子的电荷迁移的可重复测量和建模仍然是一个具有挑战性和争议性的课题。在这里，我们通过分析来自各种医学数据库的162个疾病相关基因，总共近20，000个观察到的致病突变，与所有可能的突变相比，观察到的突变群体的电子特性存在显着差异。我们的研究结果对DNA的电子性质在细胞过程中的作用有一定的意义，并暗示了预测、早期诊断和检测突变热点的可能性。
英文摘要：
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.
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