The European database of L1-HS retrotransposon insertions in humans

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Study ID   Solyom2012
Solyom, S., Ewing, A.D., Rahrmann, E.P., Doucet, T., Nelson, H.H., Burns, M.B., Harris, R.S., Sigmon, D.F., Casella, A., et al. (2012) Extensive somatic L1 retrotransposition in colorectal tumors. Genome Res, 22, 2328-2338.
Pubmed:   PMID:22968929

The purpose of this study was to ascertain the locations of somatic LINE-1 retrotransposition events in human colon tumor samples by pooling multiple tumor samples from different patients and performing a targeted resequencing assay (Ewing and Kazazian, Genome Research 2010) to sequence the 3 prime flanking regions of all insertions in the pooled sample. The result was compared to the result of applying the same method to pooled normal samples from the same patients as were used in the pooled tumor sample and selecting sites that show an insertion in the tumor but not in the normal tissue and do not correspond to any known non-reference LINE-1 insertion allele. The selected sites were then validated by site-specific PCR and capillary sequencing to confirm that they represent LINE-1 insertions and to obtain breakpoint sequences.

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