Department of Anthropology, Genetics Institute, University of Florida, Gainesville, FL 32610, USA.
Curr Opin Genet Dev. 2018 Dec;53:36-42. doi: 10.1016/j.gde.2018.06.008. Epub 2018 Jul 4.
Epigenetic variation represents a unique aspect of human biological variation that can shed light on our evolutionary history as well as the etiology of human disease. DNA methylation is the most commonly studied type of epigenetic modification and can alter gene expression without changing the underlying DNA sequence. DNA methylation occurs throughout all living organisms although its function seems to have evolved from genome defense in fungi, bacteria and plants to a more complex role in gene regulation and cellular differentiation in animals. Human DNA methylation was originally studied in imprinting diseases and cancer, but more recently has been investigated as a mechanism to mediate the impact of environmental and psychosocial stressors on human health and disease.
表观遗传变异代表了人类生物学变异的一个独特方面,它可以揭示我们的进化历史以及人类疾病的病因。DNA 甲基化是最常见的表观遗传修饰类型,它可以在不改变基础 DNA 序列的情况下改变基因表达。DNA 甲基化发生在所有生物体中,尽管其功能似乎已经从真菌、细菌和植物中的基因组防御进化为动物中更复杂的基因调控和细胞分化作用。人类 DNA 甲基化最初是在印迹疾病和癌症中研究的,但最近它被作为一种机制来研究环境和心理社会应激源对人类健康和疾病的影响。