Role of Transposable Elements in Genome Stability: Implications for Health and Disease

Abstract

Most living organisms have in their genome a sizable proportion of DNA sequences capable of mobilization; these sequences are commonly referred to as transposons, transposable elements (TEs), or jumping genes. Although long thought to have no biological significance, advances in DNA sequencing and analytical technologies have enabled precise characterization of TEs and confirmed their ubiquitous presence across all forms of life. These findings have ignited intense debates over their biological significance. The available evidence now supports the notion that TEs exert major influence over many biological aspects of organismal life. Transposable elements contribute significantly to the evolution of the genome by giving rise to genetic variations in both active and passive modes. Due to their intrinsic nature of mobility within the genome, TEs primarily cause gene disruption and large-scale genomic alterations including inversions, deletions, and duplications. Besides genomic instability, growing evidence also points to many physiologically important functions of TEs, such as gene regulation through cis-acting control elements and modulation of the transcriptome through epigenetic control. In this review, we discuss the latest evidence demonstrating the impact of TEs on genome stability and the underling mechanisms, including those developed to mitigate the deleterious impact of TEs on genomic stability and human health. We have also highlighted the potential therapeutic application of TEs.

WiFi Related Radiofrequency Electromagnetic Fields Promote Transposable Element Dysregulation and Genomic Instability in Drosophila melanogaster

“…Alterations in heterochromatic histone modifications can also directly affect DNA damage repair efficiency since many histone modifications have been implicated in promoting or inhibiting the recruitment of specific repair proteins [ 80 ]. In addition to heterochromatin destructuration, transposition events could be a further source of DNA strand breakage, which compromises genome integrity and stability [ 81 , 82 , 83 , 84 ]. Therefore, to verify whether WiFi radiation can impact genomic stability, we analyzed metaphase chromosomes obtained from brains of third instar larvae chronically exposed to WiFi radiation (from embryo to L3).…”

Chromosome-level, nanopore-only genome and allele-specific DNA methylation of Pallas's cat, Otocolobus manul

“…Repetitive elements have been minimally explored in felids despite their high genome occupancy and role in phenotype evolution ( 105–108 ). SINE element insertions are major sources of genomic diversity in canids, with links to multiple phenotypes in domestic dogs ( Canis lupus familiaris ) including early retinal degeneration, polyneuropathy, myopathy, and merle coat color ( 109–115 ).…”

Chromosome-level, nanopore-only genome and allele-specific DNA methylation of Pallas’s cat,Otocolobus manul

“…Repetitive elements have been minimally explored in felids despite their high genome occupancy and role in phenotype evolution [105][106][107][108] . SINE element insertions are major sources of genomic diversity in canids, with links to multiple phenotypes in domestic dogs (Canis lupus familiaris) including early retinal degeneration, polyneuropathy, myopathy, and merle coat color [109][110][111][112][113][114][115] .…”