LINE-1 retrotransposition impacts the genome of human pre implantation embryos and extraembryonic tissues
Sandra R. Richardson,
Jose L Cortes,
Sara R. Heras,
Francisco J. Sanchez-Luque,
Maria Concepcion Nieto-Perez,
Adam D Ewing,
Ignacio S. Alvarez,
Geoffrey J Faulkner,
Jose L Garcia-Perez
Posted 18 Jan 2019
bioRxiv DOI: 10.1101/522623
Posted 18 Jan 2019
Long Interspersed Element 1 (LINE-1/L1) is an abundant retrotransposon that has greatly impacted human genome evolution. LINE-1s are responsible for the generation of millions of insertions in the current human population. The characterization of sporadic cases of mosaic individuals carrying pathogenic L1-insertions, suggest that heritable insertions occurs during early embryogenesis. However, the timing and potential genomic impact of LINE-1 mobilization during early embryogenesis is unknown. Here, we demonstrate that inner cell mass of human pre-implantation embryos support the expression and retrotransposition of LINE-1s. Additionally, we show that LINE-1s are expressed in trophectoderm cells of embryos, and identify placenta-restricted endogenous LINE-1 insertions in newborns. Using human embryonic stem cells as a model of postimplantation epiblast cells, we demonstrate ongoing LINE-1 retrotransposition, which can impact expression of targeted genes. Our data demonstrate that LINE-1 retrotransposition starts very shortly after fertilization and may represent a previously underappreciated factor in human biology and disease.
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