Publication: Heritable L1 retrotransposition in the mouse primordial germline and early embryo.
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Identifiers
Date
2017-05-08
Authors
Richardson, Sandra R
Gerdes, Patricia
Gerhardt, Daniel J
Sanchez-Luque, Francisco J
Bodea, Gabriela-Oana
Muñoz-Lopez, Martin
Jesuadian, J Samuel
Kempen, Marie-Jeanne H C
Carreira, Patricia E
Jeddeloh, Jeffrey A
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Journal Title
Journal ISSN
Volume Title
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Abstract
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 eight 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 retrotransposition-mediated genomic diversification as a fundamental property of pluripotent embryonic cells in vivo.
Description
MeSH Terms
Animals
Embryo, Mammalian
Female
Genomics
Germ Cells
HeLa Cells
Humans
Long Interspersed Nucleotide Elements
Male
Mice
Mice, Inbred C57BL
Mosaicism
Whole Genome Sequencing
Embryo, Mammalian
Female
Genomics
Germ Cells
HeLa Cells
Humans
Long Interspersed Nucleotide Elements
Male
Mice
Mice, Inbred C57BL
Mosaicism
Whole Genome Sequencing