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Human Molecular Genetics Advance Access originally published online on April 27, 2007
Human Molecular Genetics 2007 16(13):1569-1577; doi:10.1093/hmg/ddm105
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© The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

LINE-1 retrotransposition in human embryonic stem cells

Jose L. Garcia-Perez1, Maria C.N. Marchetto3, Alysson R. Muotri3, Nicole G. Coufal3, Fred H. Gage3, K. Sue O'Shea2 and John V. Moran1,*

1 Departments of Human Genetics and Internal Medicine, 2 Department of Cell and Developmental Biology, University of Michigan Medical School, 1241 E. Catherine Street, Ann Arbor, MI 48109, USA and 3 Laboratory of Genetics, The Salk Institute for Biological Studies, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA

* To whom correspondence should be addressed. Tel: +1 7346150456; Fax: +1 7347633784; Email: moranj{at}umich.edu

Received December 14, 2006; Revised March 6, 2007; Accepted April 17, 2007

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.


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