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Human Molecular Genetics Advance Access published online on May 4, 2007
Human Molecular Genetics, doi:10.1093/hmg/ddm108
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© The Author 2007. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

L1 retrotransposition can occur early in human embryonic development

José A.J.M. van den Hurk1, Iwan C. Meij2, Maria del Carmen Seleme3, Lies H. Hoefsloot1, Erik A. Sistermans1, Ilse J. de Wijs1, Astrid S. Plomp4,5, Paulus T.V.M. de Jong4,6,7, Haig H. Kazazian3 and Frans P.M. Cremers1,8,*

1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands 2 Max Delbrück Centre for Molecular Medicine, 13125, Berlin, Germany 3 Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6145, USA 4 Department of Neuromedical Genetics, the Netherlands Institute for Neuroscience, 1105 BA, Amsterdam, The Netherlands 5 Department of Clinical Genetics 6 Department of Ophthalmology, Academic Medical Centre, 1105 AZ, Amsterdam, The Netherlands 7 Department of Epidemiology and Biostatisics, Erasmus Medical Centre, 3015 GD, Rotterdam, The Netherlands 8 Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6525 GA, Nijmegen, The Netherlands

* To whom correspondence should be addressed. Frans P.M. Cremers PhD, Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands Tel: +31-24-3613750; Fax: +31-24-3668752. E-mail: f.cremers{at}antrg.umcn.nl

Received April 13, 2007; Revised April 13, 2007; Accepted April 19, 2007

L1 elements are autonomous retrotransposons that can cause hereditary diseases. We have previously identified a full-length L1 insertion in the CHM (choroideremia) gene of a patient with choroideremia, an X-linked progressive eye disease. Because this L1 element, designated L1CHM, contains two 3' transductions, we were able to delineate a retrotransposition path in which a precursor L1 on either chromosome 10p15 or 18p11 retrotransposed to chromosome 6p21 and subsequently to the CHM gene on chromosome Xq21. A cell culture retrotransposition assay showed that L1CHM is one of the most active L1 elements in the human genome. Most importantly, analysis of genomic DNA from the CHM patient's relatives indicated somatic and germ line mosaicism for the L1 insertion in his mother. These findings provide evidence that L1 retrotransposition can occur very early in human embryonic development.


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