Standard Article

Retrotransposons and Human Disease

  1. Astrid M Roy-Engel,
  2. Victoria P Belancio

Published Online: 15 SEP 2011

DOI: 10.1002/9780470015902.a0005492.pub2



How to Cite

Roy-Engel, A. M. and Belancio, V. P. 2011. Retrotransposons and Human Disease. eLS. .

Author Information

  1. Tulane University, New Orleans, Louisiana, USA

Publication History

  1. Published Online: 15 SEP 2011


Retrotransposition is a ‘copy-and-paste’ mechanism whereby a retrotransposable element is copied from one genomic location and inserted into another genomic location, using a ribonucleic acid intermediate. The consequences of the retrotransposon-associated alterations of the genomic landscape range from silent events to changes contributing to species-specific and individual differences as well as a broad spectrum of diseases. Retrotransposon-induced genetic variation can lead to inactivation or alteration of expression of critical genes via insertional mutagenesis, loss of genomic sequences through nonallelic homologous recombination or in association with de novo integration. In addition to these well-recognised mutagenic events, some retroelements such as LINE-1 can induce deoxyribonucleic acid double-strand breaks that, if repaired unfaithfully, may lead to mutations. Moreover, retroelements have also contributed to generation of novel genes or functions through pseudogene formation, exonisation or shuffling of genetic material during retrotransposition. Thus, a complete understanding of their cumulative effect on any given genome or on genome evolution remains elusive.

Key Concepts:

  • Retroelements are currently active in the human genome, but only a limited number of functional loci are retrotranspositionally competent.

  • Retrotransposition is a multistep process that requires LINE-1 proteins and cellular factors.

  • Human retrotransposons (LINE-1, Alu and SVA) contribute to disease through several mechanisms.

  • LINE-1 ORF2 protein induces DNA double-strand breaks, but their contribution to human disease is not yet characterised.

  • LINE-1 expression varies among germ line, normal somatic tissues and cancer.

  • Retrotransposition can occur in the germ line, normal somatic tissues and cancer.

  • There is variation in the rate of LINE-1, Alu and SVA retrotransposition.

  • The estimated frequency of LINE-1-, Alu- and SVA-associated diseases is likely an underestimation of their contribution to human disease.


  • retrotransposons;
  • L1 elements;
  • alu elements;
  • insertional mutagenesis;
  • unequal homologous recombination;
  • double-strand breaks;
  • DNA damage