PerspectiveHuman Genomics

Sleeping dogs of the genome

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Science  05 Dec 2014:
Vol. 346, Issue 6214, pp. 1187-1188
DOI: 10.1126/science.aaa3177

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Retrotransposons have a way of staying under the radar. These mobile DNA elements are well-known agents of genome instability and evolution but are mostly thought of as oddities occasionally associated with an interesting phenotype or worse, because of their high copy number, confound the analysis of genome sequences. However, as much as two-thirds or more of the human genome is derived from repetitive sequences (1). Most of these are retrotransposon sequences that were active in the distant evolutionary past and are now present as fossils that litter our genomes. But this image belies the damage that can be wreaked by evolutionarily recent transposable elements.