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Heritable L1 retrotransposition in the mouse primordial germline and early embryo

Research output: Contribution to journalArticle

  • Sandra R Richardson
  • Patricia Gerdes
  • Daniel J Gerhardt
  • Francisco J Sanchez-Luque
  • Gabriela-Oana Bodea
  • Martin Munoz-Lopez
  • J Samuel Jesuadian
  • Marie-Jeanne H C Kempen
  • Patricia E Carreira
  • Jeffrey A Jeddeloh
  • Jose L Garcia-Perez
  • Haig H Kazazian
  • Adam D Ewing
  • Geoffrey J Faulkner

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    Rights statement: This article, published in Genome Research, is available under a Creative Commons License (Attribution 4.0 International), as described at http://creativecommons.org/licenses/by/4.0/.

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    Licence: Creative Commons: Attribution (CC-BY)

Original languageEnglish
JournalGenome Research
Early online date8 May 2017
Publication statusPublished - 27 Aug 2017


LINE-1 (L1) retrotransposons are a noted source of genetic diversity and disease in mammals. To expand its genomic footprint, L1 must mobilize in cells that will contribute their genetic material to subsequent generations. Heritable L1 insertions may therefore arise in germ cells and in pluripotent embryonic cells, prior to germline specification, yet the frequency and predominant developmental timing of such events remain unclear. Here, we applied mouse retrotransposon capture sequencing (mRC-seq) and whole-genome sequencing (WGS) to pedigrees of C57BL/6J animals, and uncovered an L1 insertion rate of ≥1 event per 8 births. We traced heritable L1 insertions to pluripotent embryonic cells and, strikingly, to early primordial germ cells (PGCs). New L1 insertions bore structural hallmarks of target-site primed reverse transcription (TPRT) and mobilized efficiently in a cultured cell retrotransposition assay. Together, our results highlight the rate and evolutionary impact of heritable L1 retrotransposition, and reveal L1-driven mosaicism as a common feature of mammalian development.

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