The Contribution of Transposable Elements to Human Proteins

The human genome contains hundreds of genes with protein-coding exons and even complete open reading frames derived from transposable elements. These genes are involved in major biological processes such as immunity, replication, reproduction, cell proliferation and apoptosis. This demonstrates the importance of transposable elements as a genomic pool of coding sequences for the creation and evolution of gene functions.

Keywords: transposable elements; human genome; molecular domestication; exonization; evolution

Figure 1. Possible events towards the exaptation of a transposable element-derived exon. Some of these events might not be required. For example, mutational activation of cryptic splice sites is not required if functional sites are already present in the transposable element sequence, mutational shaping of the open reading frame might not be necessary and alternative splice variants with exonized transposable element will not always supplant the ancestral splice form and become constitutive.
Figure 2. Schematic representation of transposable element genes exapted during the evolution of the human lineage. ORF, open reading frame; EN, endonuclease; RT, reverse transcriptase; PR, protease; RH, ribonuclease H; IN, integrase; ENV, envelope and LTR, long terminal repeat.
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 References
    Agrawal A, Eastman QM and Schatz DG (1998) Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune system. Nature 394: 744–751.
    Bejerano G, Lowe CB, Ahituv N et al. (2006) A distal enhancer and an ultraconserved exon are derived from a novel retroposon. Nature 441: 87–90.
    Brandt J, Schrauth S, Veith AM et al. (2005) Transposable elements as a source of genetic innovation: expression and evolution of a family of retrotransposon-derived neogenes in mammals. Gene 345: 101–111.
    Campillos M, Doerks T, Shah PK and Bork P (2006) Computational characterization of multiple Gag-like human proteins. Trends in Genetics 22: 585–589.
    Kapitonov VV and Jurka J (2005) RAG1 core and V(D)J recombination signal sequences were derived from Transib transposons. PLoS Biology 3: e181.
    Lev-Maor G, Sorek R, Shomron N and Ast G (2003) The birth of an alternatively spliced exon: 3¢ splice-site selection in Alu exons. Science 300: 1288–1291.
    Mi S, Lee X, Li X et al. (2000) Syncytin is a captive retroviral envelope protein involved in human placental morphogenesis. Nature 403: 785–789.
    Nekrutenko A and Li WH (2001) Transposable elements are found in a large number of human protein-coding genes. Trends in Genetics 17: 619–621.
    Ono R, Nakamura K, Inoue K et al. (2006) Deletion of Peg10, an imprinted gene acquired from a retrotransposon, causes early embryonic lethality. Nature Genetics 38: 101–116.
    Zdobnov EM, Campillos M, Harrington ED, Torrents D and Bork P (2005) Protein coding potential of retroviruses and other transposable elements in vertebrate genomes. Nucleic Acids Research 33: 946–954.
 Further Reading
    Biemont C and Vieira C (2006) Genetics: junk DNA as an evolutionary force. Nature 443: 521–524.
    Blaise S, de Parseval N, Benit L and Heidmann T (2003) Genomewide screening for fusogenic human endogenous retrovirus envelopes identifies syncytin 2, a gene conserved on primate evolution. Proceedings of the National Academy of Sciences of the USA 100: 13013–13018.
    Brosius J and Volff JN (2007) Modern genomes with retro-look: retrotransposed elements, retroposition and the origin of new genes. Genome Dynamics 3: 175–190.
    Cordaux R, Udit S, Batzer MA and Feschotte C (2006) Birth of a chimeric primate gene by capture of the transposase gene from a mobile element. Proceedings of the National Academy of Sciences of the USA 103: 8101–8106.
    Gotea V and Makalowski W (2006) Do transposable elements really contribute to proteomes? Trends in Genetics 22: 260–267.
    Kazazian HH Jr (2004) Mobile elements: drivers of genome evolution. Science 303: 1626–1632.
    Krull M, Petrusma M, Makalowski W, Brosius J and Schmitz J (2007) Functional persistence of exonized mammalian-wide interspersed repeat elements (MIRs). Genome Research 17: 1139–1145.
    Nakamura TM and Cech TR (1998) Reversing time: origin of telomerase. Cell 92: 587–590.
    Sela N, Mersch B, Gal-Mark N et al. (2007) Comparative analysis of transposed element insertion within human and mouse genomes reveals Alu's unique role in shaping the human transcriptome. Genome Biology 8: R127.
    Volff JN (2006) Turning junk into gold: domestication of transposable elements and the creation of new genes in eukaryotes. BioEssays 28: 913–922.
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Volff, Jean‐Nicolas(Mar 2008) The Contribution of Transposable Elements to Human Proteins. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0020793]