A mouse model of human L1 retrotransposition

Eric M. Ostertag, Ralph J. DeBerardinis, John L. Goodier, Yue Zhang, Nuo Yang, George L. Gerton, Haig H. Kazazian

Research output: Contribution to journalArticlepeer-review

156 Scopus citations


The L1 retrotransposon has had an immense impact on the size and structure of the human genome through a variety of mechanisms, including insertional mutagenesis1.2. To study retrotransposition in a living organism, we created a mouse model of human L1 retrotransposition. Here we show that L1 elements can retrotranspose in male germ cells, and that expression of a human L1 element under the control of its endogenous promoter is restricted to testis and ovary. In the mouse line with the highest level of L1 expression, we found two de novo L1 insertions in 135 offspring. Both insertions were structurally indistinguishable from natural endogenous insertions. This suggests that an individual L1 element can have substantial mutagenic potential. In addition to providing a valuable in vivo model of retrotransposition in mammals, these mice are an important step in the development of a new random mutagenesis system.

Original languageEnglish (US)
Pages (from-to)655-660
Number of pages6
JournalNature genetics
Issue number4
StatePublished - Dec 1 2002
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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