Journal Article

L1 retrotransposition can occur early in human embryonic development

José A.J.M. van den Hurk, Iwan C. Meij, Maria del Carmen Seleme, Hiroki Kano, Konstantinos Nikopoulos, Lies H. Hoefsloot, Erik A. Sistermans, Ilse J. de Wijs, Arijit Mukhopadhyay, Astrid S. Plomp, Paulus T.V.M. de Jong, Haig H. Kazazian and Frans P.M. Cremers

in Human Molecular Genetics

Volume 16, issue 13, pages 1587-1592
Published in print July 2007 | ISSN: 0964-6906
Published online May 2007 | e-ISSN: 1460-2083 | DOI:
L1 retrotransposition can occur early in human embryonic development

Show Summary Details


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 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.

Journal Article.  2995 words.  Illustrated.

Subjects: Genetics and Genomics

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