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, Frans P.M. Cremers

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1587-1592
Number of pages6
JournalHuman molecular genetics
Volume16
Issue number13
DOIs
StatePublished - Jul 1 2007
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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  • Cite this

    van den Hurk, J. A. J. M., Meij, I. C., del Carmen Seleme, M., Kano, H., Nikopoulos, K., Hoefsloot, L. H., Sistermans, E. A., de Wijs, I. J., Mukhopadhyay, A., Plomp, A. S., de Jong, P. T. V. M., Kazazian, H. H., & Cremers, F. P. M. (2007). L1 retrotransposition can occur early in human embryonic development. Human molecular genetics, 16(13), 1587-1592. https://doi.org/10.1093/hmg/ddm108