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REPETITIVE ELEMENTS

Retrotransposons: still mobile in humans

Nature Reviews Genetics volume 23, pages 458–459 (2022)Cite this article

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Nearly 20% of human DNA is composed of LINE-1 (L1) retrotransposons. These mobile genetic elements dominate the evolutionary history of most mammalian genomes. Humans are no exception: L1-encoded proteins presently orchestrate all retrotransposition (DNA ‘copy-and-paste’ via an RNA intermediate), as now confirmed by population-scale genomic analyses. Our genome contains ~500,000 L1 copies, the vast majority of which are immobile, neutrally evolving molecular fossils. A small yet important fraction contribute to the transcriptome and gene regulation, and to global chromatin accessibility. An even smaller fraction, perhaps fewer than 10 L1s per person, have an appreciable capacity to mobilize. These represent a notable source of genetic polymorphism and disease. Aided by advances in genomics and CRISPR–Cas9 editing, the field continues to define how, when and where L1 is active in vivo, alongside associated regulatory mechanisms and cellular phenotypes.

Virtually all L1 research done today can be traced back to a landmark 1988 study by Kazazian et al., which reported and characterized pathogenic de novo L1 mutations in the factor VIII gene of patients with hemophilia A. Mobile, or ‘controlling’, DNA elements were of course discovered by Barbara McClintock in the 1940s. By the 1980s, L1 was established as a high copy number interspersed repeat that, despite prevalent 5′ truncation, was able to generate full-length (~6 kbp) mRNAs harboring two potential open reading frames (ORFs). It was unknown, however, whether L1 was still making new genomic copies and, if so, how was it jumping?

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References

Original article

  • Kazazian, H. H. Jr et al. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 332, 164–166 (1988)

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Related article

  • Kazazian, H. H. Jr. Mobile DNA: finding treasure in junk. (FT Press, 2011)

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Authors and Affiliations

  1. Mater Research Institute, University of Queensland, Brisbane, Australia

    Geoffrey J. Faulkner

  2. Queensland Brain Institute, University of Queensland, Brisbane, Australia

    Geoffrey J. Faulkner

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  1. Geoffrey J. Faulkner
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Correspondence to Geoffrey J. Faulkner.

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Faulkner, G.J. Retrotransposons: still mobile in humans. Nat Rev Genet 23, 458–459 (2022). https://doi.org/10.1038/s41576-022-00485-6

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