Nanomaterials and Nanotechnology Research Center (CINN-CSIC), El Entrego, Spain.
Health Research Institute of Asturias (ISPA), Oviedo, Spain.
Methods Mol Biol. 2025;2876:131-147. doi: 10.1007/978-1-0716-4252-8_9.
DNA methylation is a widely studied epigenetic mark which in mammals involves the incorporation of a methyl group to the fifth carbon of cytosines, mainly those belonging to CpG dinucleotides. It has been linked to context-dependent regulatory functions ranging from gene and repetitive DNA silencing to gene body transcriptional activity. Because of its important roles during embryonic development and cell differentiation, DNA methylation can be used to track cell reprogramming by measuring the methylation levels of pluripotency-associated factors. In this scenario, bisulfite pyrosequencing is a simple, robust, and widely used technique which allows for the quantification of DNA methylation levels at small, specific regions of the genome. It involves the amplification and biotin tagging of bisulfite-converted DNA. Single amplified strands are then purified using streptavidin and finally pyrosequenced using a sequencing primer. Thus, it is an ideal method for the quantitative profiling of specific genomic regions, with applications ranging from biomarker discovery and epigenetic clock tracking to omic validation studies.
DNA 甲基化是一种广泛研究的表观遗传标记,在哺乳动物中涉及将一个甲基基团掺入胞嘧啶的第五个碳原子上,主要是那些属于 CpG 二核苷酸的胞嘧啶。它与从基因和重复 DNA 沉默到基因体转录活性的上下文相关的调节功能有关。由于其在胚胎发育和细胞分化过程中的重要作用,DNA 甲基化可用于通过测量多能性相关因子的甲基化水平来跟踪细胞重编程。在这种情况下,亚硫酸氢盐焦磷酸测序是一种简单、强大且广泛使用的技术,可用于定量测量基因组小的特定区域的 DNA 甲基化水平。它涉及到亚硫酸氢盐转化 DNA 的扩增和生物素标记。然后使用链霉亲和素纯化单扩增链,最后使用测序引物进行焦磷酸测序。因此,它是一种用于特定基因组区域定量分析的理想方法,应用范围从生物标志物发现和表观遗传时钟跟踪到组学验证研究。