The European database of L1-HS retrotransposon insertions in humans

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Study ID   Iskow2010
Iskow, R.C., McCabe, M.T., Mills, R.E., Torene, S., Pittard, W.S., Neuwald, A.F., Van Meir, E.G., Vertino, P.M. and Devine, S.E. (2010) Natural mutagenesis of human genomes by endogenous retrotransposons. Cell, 141, 1253-1261.
Pubmed:   PMID:20603005

In this study authors used a new technology for detecting young retrotransposon insertions and demonstrated that such insertions indeed are abundant in human populations. It was found that new somatic L1 insertions occur at high frequencies in human lung cancer genomes. Genome-wide analysis suggested that altered DNA methylation may be responsible for the high levels of L1 mobilization observed in these tumors. This data indicated that transposon-mediated mutagenesis is extensive in human genomes and is likely to have a major impact on human biology and diseases.

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