摘要/Abstract

表观遗传修饰是指在不改变DNA序列的情况下, 基因表达发生的可遗传变化. 5-羟甲基胞嘧啶(5-hydroxymethylcytosine, 5hmC)是继5-甲基胞嘧啶(5-methylcytosine, 5mC)后发现的表观遗传修饰, 被称为“第六种碱基”. 5hmC广泛分布于哺乳动物的组织和细胞中, 它的异常表达与肿瘤发生、发育性疾病和神经系统疾病密切相关. 由于5hmC的结构与5mC相似, 并且其丰度远远低于5mC, 传统方法难以实现对5hmC的准确和灵敏检测. 近年来, 科学家们结合新的修饰方法和信号放大策略, 发展了一系列超灵敏检测5hmC的新方法, 包括液相色谱串联质谱法、荧光法、电化学法、光电化学法、单碱基分辨率的测序法和单分子检测技术. 这些方法各自具有其独特优势, 有力推动了表观遗传学的发展. 本综述总结了5hmC检测方法的最新研究进展, 并对其面临的挑战和发展趋势做了展望.
关键词: 表观遗传, 5-羟甲基胞嘧啶, 检测方法
Epigenetic inheritance is a heritable change in gene function independent of alterations in nucleotide sequence. 5-Hydroxymethylcytosine (5hmC), which is called “the sixth base”, is an epigenetic modification discovered after 5-methylcytosine (5mC). 5hmC is widely distributed in mammalian tissues and cells, and its abnormality is closely related to tumorigenesis, developmental diseases, and nervous system diseases. Because the structure of 5hmC is similar to that of 5mC and its abundance is much lower than that of 5mC, it is much difficult to accurately detect 5hmC by using the traditional methods. Recently, scientists have developed a series of new methods for the detection of 5hmC, including liquid chromatography tandem mass spectrometry, fluorescent method, electrochemical method, photoelectrochemical method, single base-resolution sequencing, and single-molecule detection technology. These emerging technologies have their own unique advantages and greatly promote the advance of epigenetic research. The recent advance in the detection of 5hmC is reviewed in this paper, and the challenge and trends of this area is highlighted as well.
Key words: epigenetics, 5-hydroxymethylcytosine, detection method


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