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Vol. 12, Issue 10, 1455-1465, October 2002

REVIEW
Mammalian Retroelements

Prescott L. Deininger,1,2,4 and Mark A. Batzer3

1 Tulane Cancer Center, Department of Environmental Health Sciences, Tulane University Health Sciences Center, New Orleans, Louisiana 70112, USA; 2 Laboratory of Molecular Genetics, Alton Ochsner Medical Foundation, New Orleans, Louisiana 70121, USA; 3 Department of Biological Sciences, Biological Computation and Visualization Center, Louisiana State University, Baton Rouge, Louisiana 70803, USA

The eukaryotic genome has undergone a series of epidemics of amplification of mobile elements that have resulted in most eukaryotic genomes containing much more of this `junk' DNA than actual coding DNA. The majority of these elements utilize an RNA intermediate and are termed retroelements. Most of these retroelements appear to amplify in evolutionary waves that insert in the genome and then gradually diverge. In humans, almost half of the genome is recognizably derived from retroelements, with the two elements that are currently actively amplifying, L1 and Alu, making up about 25% of the genome and contributing extensively to disease. The mechanisms of this amplification process are beginning to be understood, although there are still more questions than answers. Insertion of new retroelements may directly damage the genome, and the presence of multiple copies of these elements throughout the genome has longer-term influences on recombination events in the genome and more subtle influences on gene expression.

4 Corresponding author.

12:1455-1465 ©2002 by Cold Spring Harbor Laboratory Press  ISSN 1088-9051/02 $5.00
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