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Endogenous Retroviral Sequences; Their Evolutionary Contribution to the Human Genome

  1. Jens Mayer

Published Online: 15 MAR 2013

DOI: 10.1002/9780470015902.a0020825.pub2

eLS

eLS

How to Cite

Mayer, J. 2013. Endogenous Retroviral Sequences; Their Evolutionary Contribution to the Human Genome. eLS. .

Author Information

  1. University of Saarland, Homburg, Germany

Publication History

  1. Published Online: 15 MAR 2013

Abstract

Endogenous retroviruses (ERVs) comprise approximately 8% of the human genome. They stem from germ cell invasions of exogenous retroviruses in the evolutionary past. Human ERV transcripts are found in every human tissue, and their expression patterns seem to be regulated by complex mechanisms. HERV transcription is often deregulated in diseased tissue and cells. By introducing numerous regulatory elements into the genome ERVs profoundly influence quite a number of cellular genes regarding gene structure and expression patterns. Although most ERV sequences in the human genome are coding defective, some HERVs still encode proteins that appear to have become essential human genes or that appear to be involved in human diseases. A HERV encoded protein is essentially involved in placenta development. Other HERV encoded proteins may serve as biomarkers for certain tumour types or may be involved in tumour development.

Key Concepts:

  • Most vertebrate genomes harbour significant amounts of repetitive sequences.

  • Human endogenous retroviruses are remnants of ancient retroviral infections of the germ line.

  • Approximately 8% of the human genome are of retroviral origin.

  • HERV sequences are often severely mutated due to long-time presence in the genome.

  • HERV transcripts are found in every human tissue.

  • HERV transcription is deregulated in some diseases including tumours.

  • HERV loci can influence transcription of nearby genes.

  • A HERV encoded protein is essentially involved in placental development.

  • Other HERV proteins may be involved in tumour development.

Keywords:

  • endogenous retrovirus;
  • repetitive sequence;
  • provirus;
  • gene structure;
  • genome evolution