Recent advances in ancient DNA extraction and high-throughput sequencing technologies enabled the high-quality sequencing of archaic genomes, including the Neanderthal and the Denisovan. While comparisons with modern humans revealed both archaic-specific and human-specific sequence changes, in the absence of gene expression information, understanding the functional implications of such genetic variations remains a major challenge. To study gene regulation in archaic humans, epigenetic research comes to our aid. DNA methylation, which is highly correlated with transcription, can be directly measured in modern samples, as well as reconstructed in ancient samples. This puts DNA methylation as a natural basis for comparative epigenetics between modern humans, archaic humans and nonhuman primates.

中文翻译：

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利用表观遗传学研究人类进化。

古代 DNA 提取和高通量测序技术的最新进展使古代基因组（包括尼安德特人和丹尼索瓦人）的高质量测序成为可能。虽然与现代人类的比较揭示了古代特定和人类特定的序列变化，但在缺乏基因表达信息的情况下，了解此类遗传变异的功能影响仍然是一项重大挑战。为了研究古代人类的基因调控，表观遗传研究对我们有所帮助。DNA 甲基化与转录高度相关，可以在现代样本中直接测量，也可以在古代样本中重建。这使得 DNA 甲基化成为现代人类、古代人类和非人类灵长类动物之间比较表观遗传学的自然基础。