title: LINE-1 retrotransposition in human embryonic stem cells.
abstract: LINE-1 elements comprise approximately 17% of human DNA and their mobility continues to impact genome evolution. However, little is known about the types of non-transformed cells that can support LINE-1 retrotransposition. Here, we show that human embryonic stem cells express endogenous LINE-1 elements and can accommodate LINE-1 retrotransposition in vitro. The resultant retrotransposition events can occur into genes and can result in the concomitant deletion of genomic DNA at the target site. Thus, these data suggest that LINE-1 retrotransposition events may occur during early stages of human development.
authors.affiliation: Departments of Human Genetics and Internal Medicine, University of Michigan Medical School, 1241 E. Catherine Street, Ann Arbor, MI 48109, USA.
authors.forename: Jose L
authors.initials: JL
authors.lastname: Garcia-Perez
authors.forename: Maria C N
authors.initials: MC
authors.lastname: Marchetto
authors.forename: Alysson R
authors.initials: AR
authors.lastname: Muotri
authors.forename: Nicole G
authors.initials: NG
authors.lastname: Coufal
authors.forename: Fred H
authors.initials: FH
authors.lastname: Gage
authors.forename: K Sue
authors.initials: KS
authors.lastname: O'Shea
authors.forename: John V
authors.initials: JV
authors.lastname: Moran
mesh_terms: D002454:Cell Differentiation; D002460:Cell Line; D045744:Cell Line, Tumor; D004247:DNA / Q000378:metabolism; D053595:Embryonic Stem Cells / Q000378:metabolism*; D019143:Evolution, Molecular; D016678:Genome; D006801:Humans; D020084:Long Interspersed Nucleotide Elements / Q000235:genetics*; D008858:Microscopy, Phase-Contrast; D008957:Models, Genetic; D010957:Plasmids / Q000378:metabolism; D016133:Polymerase Chain Reaction; D018626:Retroelements / Q000235:genetics*; D014162:Transfection
chemical_list: D018626:Retroelements; D004247:DNA