NGS Clinical Laboratory, Division of Cancer Research, Dankook University Hospital, Cheonan 31116, Republic of Korea.
Smart Animal Bio Institute, Dankook University, Cheonan 31116, Republic of Korea.
Genes (Basel). 2023 Nov 28;14(12):2150. doi: 10.3390/genes14122150.
Human endogenous retroviruses (HERVs) comprise a significant portion of the human genome, making up roughly 8%, a notable comparison to the 2-3% represented by coding sequences. Numerous studies have underscored the critical role and importance of HERVs, highlighting their diverse and extensive influence on the evolution of the human genome and establishing their complex correlation with various diseases. Among HERVs, the HERV-K (HML-2) subfamily has recently attracted significant attention, integrating into the human genome after the divergence between humans and chimpanzees. Its insertion in the human genome has received considerable attention due to its structural and functional characteristics and the time of insertion. Originating from ancient exogenous retroviruses, these elements succeeded in infecting germ cells, enabling vertical transmission and existing as proviruses within the genome. Remarkably, these sequences have retained the capacity to form complete viral sequences, exhibiting activity in transcription and translation. The HERV-K (HML-2) subfamily is the subject of active debate about its potential positive or negative effects on human genome evolution and various pathologies. This review summarizes the variation, regulation, and diseases in human genome evolution arising from the influence of HERV-K (HML-2).
人类内源性逆转录病毒（HERV）构成了人类基因组的重要部分，约占 8%，与编码序列占 2-3%相比，这是一个显著的对比。大量研究强调了 HERV 的关键作用和重要性，突出了它们在人类基因组进化中的多样性和广泛影响，并确定了它们与各种疾病的复杂关联。在 HERV 中，HERV-K（HML-2）亚家族最近引起了广泛关注，它在人类和黑猩猩分化后整合到人类基因组中。由于其结构和功能特征以及插入的时间，其在人类基因组中的插入受到了相当大的关注。这些元件起源于古老的外源性逆转录病毒，成功感染了生殖细胞，实现了垂直传播，并以原病毒的形式存在于基因组中。值得注意的是，这些序列保留了形成完整病毒序列的能力，表现出转录和翻译的活性。HERV-K（HML-2）亚家族是一个活跃的争论主题，关于其对人类基因组进化和各种病理学的潜在积极或消极影响。本综述总结了 HERV-K（HML-2）影响下人类基因组进化中的变异、调控和疾病。
