Topic: transposable elements

This lecture examines how regulatory DNA contacts its target genes through both CTCF-dependent and other mechanisms. It then considers diseases caused by disrupted enhancer function, ranging from missing elements to genomic rearrangements that alter regulatory contacts. Transposable elements are discussed as contributors to the evolution of gene regulation.

Transposable elements, known colloquially as ‘jumping genes’, constitute approximately 45% of the human genome. Cells utilize epigenetic defenses to limit transposable element jumping, including formation of silencing heterochromatin and generation of piwi-interacting RNAs (piRNAs), small RNAs that facilitate clearance of transposable element transcripts. We have utilized fruit flies, mice and postmortem human brain samples to identify transposable element dysregulation as a key mediator of neuronal death in tauopathies, a group of neurodegenerative disorders that are pathologically characteri