The European database of L1-HS retrotransposon insertions in humans

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Study ID   Beck2010
Beck, C.R., Collier, P., Macfarlane, C., Malig, M., Kidd, J.M., Eichler, E.E., Badge, R.M. and Moran, J.V. (2010) LINE-1 Retrotransposition Activity in Human Genomes. Cell, 141, 1159-1170.
Pubmed:   PMID:20602998

In this study a fosmid-based, paired-end DNA sequencing strategy was used 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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