Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

LINE-1 Elements

Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_3360-2

Definition

Long interspersed nuclear elements-1 (LINE-1 or L1) are mobile repetitive elements with capacity to propagate autonomously within the human genome. They belong to the class of non-long terminal repeat (non-LTR) retrotransposons and are widespread, with an estimated ∼500,000 copies comprising ∼17 % of the human genome.

Characteristics

Structure

Full-length L1 elements are ∼6 kb; include a 910 bp 5′ untranslated region (UTR), two open reading frames (ORF-1 and ORF-2) that are separated by a 63 bp inter-ORF region, a 205 bp 3′UTR, and a variable length poly-A tail; and are typically flanked by short direct target site duplications of 2–20 bp (Fig. 1). The 5′UTR contains an internal promoter which, mediated by RNA polymerase II, drives L1 expression, and also has an antisense promoter permitting transcription of the 5′UTR and its upstream genomic region. ORF-1 encodes a ∼40 kDa protein (p40 or ORF1p) with RNA-binding affinity and nucleic acid chaperone activity. ORF-2 encodes a...

Keywords

Desmoplastic Small Round Cell Tumor Retrotransposon Insertion Nucleic Acid Chaperone Nucleic Acid Chaperone Activity Cytidine Deaminase APOBEC3 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

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See Also

  1. (2012) APC. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 234. doi: 10.1007/978-3-642-16483-5_347Google Scholar
  2. (2012) Hypomethylation. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1791. doi: 10.1007/978-3-642-16483-5_2922Google Scholar
  3. (2012) MYC family. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2426. doi: 10.1007/978-3-642-16483-5_3922Google Scholar
  4. (2012) Open reading frame. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2642. doi: 10.1007/978-3-642-16483-5_4241Google Scholar
  5. (2012) Promoter. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 3004. doi: 10.1007/978-3-642-16483-5_4768Google Scholar
  6. (2012) Untranslated region. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 3847. doi: 10.1007/978-3-642-16483-5_6112Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Cancer Genetics ResearchUniversity of OtagoChristchurchNew Zealand