The European database of L1-HS retrotransposon insertions in humans

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Study ID   Baillie2011
Baillie, J.K., Barnett, M.W., Upton, K.R., Gerhardt, D.J., Richmond, T.A., De Sapio, F., Brennan, P.M., Rizzu, P., Smith, S., et al. (2011) Somatic retrotransposition alters the genetic landscape of the human brain. Nature, 479, 534-537.
Pubmed:   PMID:22037309

In this study authors applied a high-throughput method to identify numerous L1, Alu and SVA germline mutations, as well as putative somatic L1 insertions, in the hippocampus and caudate nucleus of three individuals. Surprisingly, authors also found somatic Alu insertions and SVA insertions. There results demonstrate that retrotransposons mobilize to protein-coding genes differentially expressed and active in the brain. Thus, somatic genome mosaicism driven by retrotransposition may reshape the genetic circuitry that underpins normal and abnormal neurobiological processes.

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