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Unveiling Transposable Elements Function to Enrich Knowledge for Human Physiology and Disease Pathogenesis

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Genomic Elements in Health, Disease and Evolution

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Abstract

On September, 2012, data released by the ENCODE (The Encyclopedia of DNA Elements) project strongly support the notion that about 80 % of the human genome, including non-coding DNA sequences and repetitive DNA elements, serve some function. The latter, sheds light to one of the most provocative questions in biology by providing new knowledge to the functional roles of transposable elements (TEs) in the potential modulation of the genome transcriptional units organized throughout the genome either as coding (genes) or as non-coding DNA regions. Interestingly, some of these data propose that specific inter-individual genetic variability patterns are also located within the “junk DNA” structure. This direction may obviously lead toward the exploitation of genomic knowledge implicating the bulk of human genome structure and function in therapeutics and drug development. This chapter focuses on the function of TEs in physiology and human pathophysiology. In parallel, some recently data of our laboratory on the potential involvement of mouse B1 short repetitive elements in the execution of murine erythroleukemia (MEL) cell erythroid maturation program and the regulation of globin gene expression will be also discussed.

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Acknowledgments

We would like to thank Prof. Asterios S. Tsiftsoglou (Laboratory of Pharmacology, Department of Pharmaceutical Sciences, Aristotle University of Thessaloniki, Greece) for his thoughtful criticism and continuous support throughout the entire period of our efforts to carry out the experiments, analyze the results and delineate the mechanisms discussed in this chapter.

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  1. Laboratory of Pharmacology, Department of Pharmaceutical Sciences, Aristotle University of Thessaloniki, GR-54124, Thessaloniki, Greece

    Ioannis S. Vizirianakis Ph.D., Elsa P. Amanatiadou M.Sc. & Sotirios S. Tezias M.Sc.

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  1. Ioannis S. Vizirianakis Ph.D.
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  2. Elsa P. Amanatiadou M.Sc.
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  3. Sotirios S. Tezias M.Sc.
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Correspondence to Ioannis S. Vizirianakis Ph.D. .

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  1. Department of Life and Health Sciences and University of Nicosia Medical School, University of Nicosia, Nicosia, Cyprus

    Kyriacos Felekkis

  2. Department of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus

    Konstantinos Voskarides

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© 2015 Springer Science+Business Media New York

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Vizirianakis, I.S., Amanatiadou, E.P., Tezias, S.S. (2015). Unveiling Transposable Elements Function to Enrich Knowledge for Human Physiology and Disease Pathogenesis. In: Felekkis, K., Voskarides, K. (eds) Genomic Elements in Health, Disease and Evolution. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-3070-8_5

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