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Transposable elements are DNA sequences which are also known as “jumping genes”, given their ability to move from one location of the genome to another. They are present in all eukaryotic genomes and constitute roughly 50% of the human genome, making up the vast majority of what is often referred to as ”junk DNA”. Transposable elements are broadly categorised into two classes: retrotransposons (requiring transcription before being able to transpose) and DNA transposons. Transposable elements are drivers of genetic diversity and modulate gene expression and shape the genome’s architecture. They play critical roles in early mammalian development, regulation of stem cell properties and immune function. Dysregulated transposable element expression and function causes human monogenic diseases, and has been associated with neurological disease, autoimmune and inflammatory disorders, cancer, and normal aging. Technological advances in genome sequencing offer unprecedented opportunities to understand the effects of transposable elements on evolution and disease.
This Collection will gather articles that provide insight into transposable element expression and regulation, the physiological impacts of aberrant transposable element activity, and methodologies that enable probing their function.