Computational and Structural Biotechnology Journal (Jan 2021)

Human endogenous retroviruses in development and disease

  • Jian Mao,
  • Qian Zhang,
  • Yu-Sheng Cong

Journal volume & issue
Vol. 19
pp. 5978 – 5986

Abstract

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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.

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