Exon Shuffling by L1 Retrotransposition

Science  05 Mar 1999:
Vol. 283, Issue 5407, pp. 1530-1534
DOI: 10.1126/science.283.5407.1530

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Long interspersed nuclear elements (LINE-1s or L1s) are the most abundant retrotransposons in the human genome, and they serve as major sources of reverse transcriptase activity. Engineered L1s retrotranspose at high frequency in cultured human cells. Here it is shown that L1s insert into transcribed genes and retrotranspose sequences derived from their 3′ flanks to new genomic locations. Thus, retrotransposition-competent L1s provide a vehicle to mobilize non-L1 sequences, such as exons or promoters, into existing genes and may represent a general mechanism for the evolution of new genes.

  • * Present address, Departments of Human Genetics and Internal Medicine, University of Michigan Medical School, Ann Arbor, MI, 48109–0650 USA.

  • To whom correspondence should be addressed. E-mail: moranj{at} or kazazian{at}

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