LINE-1 retrotransposition activity in human genomes
- PMID: 20602998
- PMCID: PMC3013285
- DOI: 10.1016/j.cell.2010.05.021
LINE-1 retrotransposition activity in human genomes
Abstract
Highly active (i.e., "hot") long interspersed element-1 (LINE-1 or L1) sequences comprise the bulk of retrotransposition activity in the human genome; however, the abundance of hot L1s in the human population remains largely unexplored. Here, we used a fosmid-based, paired-end DNA sequencing strategy to identify 68 full-length L1s that are differentially present among individuals but are absent from the human genome reference sequence. The majority of these L1s were highly active in a cultured cell retrotransposition assay. Genotyping 26 elements revealed that two L1s are only found in Africa and that two more are absent from the H952 subset of the Human Genome Diversity Panel. Therefore, these results suggest that hot L1s are more abundant in the human population than previously appreciated, and that ongoing L1 retrotransposition continues to be a major source of interindividual genetic variation.
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Comment in
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Retrotransposition and structural variation in the human genome.Cell. 2010 Jun 25;141(7):1110-2. doi: 10.1016/j.cell.2010.06.014. Cell. 2010. PMID: 20602993
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Genomic variation: Human retrotransposons keep it active.Nat Rev Genet. 2010 Aug;11(8):527. doi: 10.1038/nrg2832. Epub 2010 Jul 13. Nat Rev Genet. 2010. PMID: 20628350 No abstract available.
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Jumping genes.Nat Methods. 2010 Aug;7(8):579. doi: 10.1038/nmeth0810-579. Nat Methods. 2010. PMID: 20704015 No abstract available.
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