Genomes are highly plastic entities submitted to several types of mutations in somatic and germinal lines. These mutations can alter the general structure of the genome and also its regulation. A large proportion of these events is due to repeated and mobile sequences – the transposable elements.

Keywords: transposon; retrotransposon; retroposon; retroviruses

Figure 1.

Structure of the main classes of transposable elements found in human genome. (a) Class I elements: A and B: RNA polymerase III promoters; Core: conserved region of unknown function; ENDO: endonuclease; gag: capsid gene; pol: polyprotein including reverse transcriptase, integrase, ribonuclease H and protease domains; LTR: long terminal repeat; PBS: primer‐binding site; PTT: polypurine tract; RT: reverse transcriptase; transposase: protein required for the excision and insertion of class II elements. The gray shading for the envelope (env) gene indicates that a functional gene is not always found. (b) Class II elements: ITR: inverted terminal repeat; MITEs: miniature inverted‐repeated transposable elements.

Figure 2.

Structural rearrangements caused by ectopic recombination of TEs. (a) Ectopic recombination involving copies in direct orientation leads to the deletion of the chromosomal portion between the two copies. This mechanism is at the origin of solo‐LTRs, where recombination occurs between the two LTRs of LTR retrotransposons. (b) Ectopic recombination involving copies in inverted orientation leads to the inversion of the chromosomal portion between the two copies.



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Further Reading

Capy P, Bazin C, Higuet D and Langin T (1997) Dynamics and Evolution of Transposable elements. Landes Company, Heidelberg, Germany: Springer‐Verlag.

Capy P (1996) Genetica. vol. 100 [Special issue on transposable elements.]

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Sherrat DJ (1995) Mobile Genetic Elements. Oxford, UK: IRL Press.

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Capy, Pierre, and Deragon, Jean‐Marc(Sep 2005) Transposons. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005064]