人类内源性逆转录病毒(HERV)是几百万年前整合到人类基因组中的逆转录病毒的残余物,约占了整个基因组的8%。大部分HERV元件在进化过程中由于突变、缺失等的积累,已没有编码能力。但仍有少数由于正性选择的压力,完整的开放阅读框被保留了下来。它们在一些特定的组织或分化发育的特定阶段表面,可能具有重要的生理意义。而在某些疾病情况下的高表达水平提示其可能与疾病的发生发展相关。由于最初插入位点的关系或后来的转座作用,HERV元件相互之间以及对基因组中的其他基因都可能有影响。对HERV目前还了解甚少,该文将对HERV的生物学功能以及对HERV-K、-W、-H3个家族的研究概况作一简要综述。
Human endogenous retroviruses (HERV) are remnants of germline infections of the human ancestor by retroviruses millions of years ago and occupy about 8% of the human genome. Most of such "retroviral" genes have lost their coding capacties due to mutations and deletions in evolution. However, some open reading frames have remained by positive selection. Such open reading frames express in specific tissues or at specific stages of development, and may play an important physiological role. Their high expression also found in some pathological condictions, suggesting that may be related to pathogenesis. The inverted locus or transposition may cause the interactions of HERV and the impact on adjacent genes in the genome. In this review, biological functions and three well-known families of human HERVs are discussed.