L1 Mosaicism in Mammals: Extent, Effects, and Evolution

Geoffrey J Faulkner, Jose L Garcia-Perez

Research output: Contribution to journalReview articlepeer-review


The retrotransposon LINE-1 (long interspersed element 1, L1) is a transposable element that has extensively colonized the mammalian germline. L1 retrotransposition can also occur in somatic cells, causing genomic mosaicism, as well as in cancer. However, the extent of L1-driven mosaicism arising during ontogenesis is unclear. We discuss here recent experimental data which, at a minimum, fully substantiate L1 mosaicism in early embryonic development and neural cells, including post-mitotic neurons. We also consider the possible biological impact of somatic L1 insertions in neurons, the existence of donor L1s that are highly active ('hot') in specific spatiotemporal niches, and the evolutionary selection of donor L1s driving neuronal mosaicism.

Original languageEnglish
JournalTrends in Genetics
Early online date7 Aug 2017
Publication statusPublished - 1 Nov 2017


  • Journal Article
  • Review

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