Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2014 Sep;12(3):98-104.
doi: 10.5808/GI.2014.12.3.98. Epub 2014 Sep 30.

The impact of transposable elements in genome evolution and genetic instability and their implications in various diseases

Selvam Ayarpadikannan  1 , Heui-Soo Kim  1
Affiliations
Review

The impact of transposable elements in genome evolution and genetic instability and their implications in various diseases

Selvam Ayarpadikannan et al. Genomics Inform. 2014 Sep.

Abstract

Approximately 45% of the human genome is comprised of transposable elements (TEs). Results from the Human Genome Project have emphasized the biological importance of TEs. Many studies have revealed that TEs are not simply "junk" DNA, but rather, they play various roles in processes, including genome evolution, gene expression regulation, genetic instability, and cancer disposition. The effects of TE insertion in the genome varies from negligible to disease conditions. For the past two decades, many studies have shown that TEs are the causative factors of various genetic disorders and cancer. TEs are a subject of interest worldwide, not only in terms of their clinical aspects but also in basic research, such as evolutionary tracking. Although active TEs contribute to genetic instability and disease states, non-long terminal repeat transposons are well studied, and their roles in these processes have been confirmed. In this review, we will give an overview of the importance of TEs in studying genome evolution and genetic instability, and we suggest that further in-depth studies on the mechanisms related to these phenomena will be useful for both evolutionary tracking and clinical diagnostics.

Keywords: cancer; evolution; gene expression; transposable elements.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Classification and structure of transposable elements. DRs, direct repeats; ITRs, inverted terminal repeats; TSD, tandem site duplication; LTRs, long terminal repeats; UTRs, untranslated region; ORF, open reading frame; L, left; R, right; SINE, short interspersed nuclear element.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. McClintock B. The origin and behavior of mutable loci in maize. Proc Natl Acad Sci U S A. 1950;36:344–355. - PMC - PubMed
    1. SanMiguel P, Tikhonov A, Jin YK, Motchoulskaia N, Zakharov D, Melake-Berhan A, et al. Nested retrotransposons in the intergenic regions of the maize genome. Science. 1996;274:765–768. - PubMed
    1. Craig NL, Craigie R, Gellert M, Lambowitz AM. Mobile DNA II. Washington, DC: ASM Press; 2002.
    1. Pace JK, 2nd, Feschotte C. The evolutionary history of human DNA transposons: evidence for intense activity in the primate lineage. Genome Res. 2007;17:422–432. - PMC - PubMed
    1. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860–921. - PubMed

LinkOut - more resources