Abstract
Transposable elements (TEs) are recognized as major players in genome plasticity and evolution. The high abundance of TEs in the human genome, especially the Alu and Long Interspersed Nuclear Element-1 (LINE-1) repeats, makes them responsible for the molecular origin of several diseases. This involves several molecular mechanisms that are presented in this review: insertional mutation, DNA recombination and chromosomal rearrangements, modification of gene expression, as well as alteration of epigenetic regulations. This literature review also presents some of the more recent and/or more classical examples of human diseases in which TEs are involved. Whether through insertion of LINE-1 or Alu elements that cause chromosomal rearrangements, or through epigenetic modifications, TEs are widely implicated in the origin of human cancers. Many other human diseases can have a molecular origin in TE-mediated chromosomal recombination or alteration of gene structure and/or expression. These diseases are very diverse and include hemoglobinopathies, metabolic and neurological diseases, and common diseases. Moreover, TEs can also have an impact on aging. Finally, the exposure of individuals to stresses and environmental contaminants seems to have a non-negligible impact on the epigenetic derepression and mobility of TEs, which can lead to the development of diseases. Thus, improving our knowledge of TEs may lead to new potential diagnostic markers of diseases.
Highlights
Montesion et al, showed that the Human Endogenous RetroVirus (HERVs)‐ K promoter activity is present in the majority (73%) of breast cancer cell lines tested and that long terminal repeats (LTRs) sequence similarity is correlated with promoter expression patterns [71]
The in‐ sertion of a Long Inter‐ spersed Nuclear Element‐1 (LINE‐1) element in the ribosomal S6 kinase 2 (RSK2) gene was reported in a patient with Coffin‐Lowry syndrome, a disease characterized by psychomotor and growth retardation, facial dysmorphism, and skeletal abnormalities
Improving our knowledge of Transposable elements (TEs) through deep genomic approaches may lead to new potential di‐ agnostic markers of diseases and prenatal markers of genetic diseases
Summary
Regarding events that can lead to disease in humans, three major groups of mecha‐ nisms can be distinguished: (1) genomic rearrangements due to TE abundance; (2) modi‐ fication of gene structure and regulatory regions by TE insertion, and (3) alteration of ep‐ igenetic controls [4,12,13]
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