Standard Article

Repetitive Elements and Human Disorders

  1. Dale J Hedges,
  2. Prescott L Deininger

Published Online: 21 DEC 2007

DOI: 10.1002/9780470015902.a0005493.pub2



How to Cite

Hedges, D. J. and Deininger, P. L. 2007. Repetitive Elements and Human Disorders. eLS. .

Author Information

  1. Tulane University Health Sciences Center, New Orleans, Louisiana, USA

Publication History

  1. Published Online: 21 DEC 2007


Repetitive sequences, consisting largely of transposable elements (TEs), comprise over 50% of the mammalian genome. Ongoing proliferation of human TEs results in a significant level of disease-causing mutations. More frequently than insertional mutagenesis, TEs participate in nonallelic recombinations that generate both germ-line and somatic mutations. Further exacerbating the deleterious nature of TEs, the protein products of some autonomous elements have been demonstrated to generate double-stranded deoxyribonucleic acid (DNA) breaks, which have themselves been established as potent inducers of genetic instability. Other repetitive genomic sequence, such as segmental duplications and microsatellites (particularly triplet repeats), also promote genetic instability resulting in disease phenotypes.


  • L1;
  • ALU;
  • SVA;
  • human mobile elements;
  • insertional mutation;
  • nonallelic homologous recombination