Repetitive Elements and Human Disorders
Published Online: 21 DEC 2007
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Hedges, D. J. and Deininger, P. L. 2007. Repetitive Elements and Human Disorders. eLS. .
- 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.
- human mobile elements;
- insertional mutation;
- nonallelic homologous recombination