Human endogenous retroviruses (HERVs) represent ∼8% of human genome, deriving from exogenous retroviral infections of germ line cells occurred millions of years ago and being inherited by the offspring in a Mendelian fashion. Most of HERVs are nonprotein-coding because of the accumulation of mutations, insertions, deletions, and/or truncations. It has been long thought that HERVs were “junk DNA”. However, it is now known that HERVs are involved in various biological processes through encoding proteins, acting as promoters/enhancers, or lncRNAs to affect human health and disease. In this review, we summarized recent findings about HERVs, with implications in embryonic development, pluripotency, cancer, aging, and neurodegenerative diseases.

人类内源性逆转录病毒 (HERV) 约占人类基因组的 8%，源自数百万年前发生的生殖系细胞的外源性逆转录病毒感染，并以孟德尔的方式由后代遗传。由于突变、插入、缺失和/或截断的积累，大多数 HERV 是非蛋白质编码的。长期以来，人们一直认为 HERV 是“垃圾 DNA”。然而，现在已知 HERV 通过编码蛋白质、作为启动子/增强子或 lncRNA 参与各种生物过程，以影响人类健康和疾病。在这篇综述中，我们总结了最近关于 HERV 的发现，以及对胚胎发育、多能性、癌症、衰老和神经退行性疾病的影响。