Diversity through duplication: whole-genome sequencing reveals novel gene retrocopies in the human population

Bioessays. 2014 May;36(5):475-81. doi: 10.1002/bies.201300181. Epub 2014 Feb 25.


Gene retrocopies are generated by reverse transcription and genomic integration of mRNA. As such, retrocopies present an important exception to the central dogma of molecular biology, and have substantially impacted the functional landscape of the metazoan genome. While an estimated 8,000-17,000 retrocopies exist in the human genome reference sequence, the extent of variation between individuals in terms of retrocopy content has remained largely unexplored. Three recent studies by Abyzov et al., Ewing et al. and Schrider et al. have exploited 1,000 Genomes Project Consortium data, as well as other sources of whole-genome sequencing data, to uncover novel gene retrocopies. Here, we compare the methods and results of these three studies, highlight the impact of retrocopies in human diversity and genome evolution, and speculate on the potential for somatic gene retrocopies to impact cancer etiology and genetic diversity among individual neurons in the mammalian brain.

Keywords: pseudogene; retrocopy; retrogene; retrotransposition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Duplication*
  • Genes*
  • Genetic Variation*
  • Genetics, Population*
  • Genome, Human / genetics*
  • Humans
  • RNA, Messenger / genetics*
  • Sequence Analysis, DNA / methods*


  • RNA, Messenger