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Chapitre D'ouvrage Année : 2017

Mobile Elements in the Human Genome: Implications for Disease

Benoît Chénais


Transposable elements (TEs) are mobile DNA sequences that represent a great portion of the human genome. TEs are divided into retrotransposons, the more abundant, and DNA transposons, which differ by their structure and transposition mechanisms. The major LINE-1 and Alu elements represent about one-third of the human genome and are responsible for several chromosomal rearrangements, gene deletion, insertional mutagenesis as well as RNA splicing alteration and epigenetic regulation. DNA transposons and human endogenous retroviruses are also a source of genetic alterations. Consequently, TE insertion and mobility lead to human diseases, among which are cancer, hematologic disease, metabolic disease, neurodegenerescence and neurologic and psychiatric diseases. The examples of TE-related diseases presented herein aim to highlight the interest of increasing our knowledge of TEs through extensive genomic approaches, which may lead to new potential diagnostic markers of diseases.
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hal-01901944 , version 1 (23-10-2018)



Benoît Chénais. Mobile Elements in the Human Genome: Implications for Disease. eLS, John Wiley & Sons, Ltd., 2017, ⟨10.1002/9780470015902.a0024377⟩. ⟨hal-01901944⟩
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