Unusual characteristics abound in the human genome, a complex tapestry of genetic material essential to existence. Among these are “transposable elements” (TEs), which are DNA segments having the ability to “jump around” and move within the genome.
TEs are master orchestrators of our genome’s organisation and expression, but they may also potentially create mutations and modify the genetic profile of the cell as they move about throughout the genome. For instance, TEs support transcription factor binding sites, regulatory elements, and the synthesis of chimeric transcripts, which are genetic sequences formed when segments of two distinct genes or regions of the genome combine to produce a single, hybrid RNA molecule.
Transposable Elements (TEs):
Comparable in significance to their functional role, Transposable Elements (TEs) are known to make up half of human DNA. But TEs take on alterations that conceal their initial structure as they mature and shift. TEs “degenerate” over time and lose their distinctiveness, making it challenging for scientists to locate and monitor them in human genetic code.
Using reconstructed ancestral genomes from different species, researchers led by Didier Trono at EPFL have improved the detection of TEs in the human genome. This has allowed them to find degenerate TEs in the human genome that were previously undetectable. Cell Genomics has published the work.
The researchers employed a genomic “time machine” in the form of a database containing reconstructed ancestral genomes from many species. They were able to identify Transposable Elements (TEs) in the reconstructed ancestral genomes that had become degenerate (worn out) in humans over millions of years by comparing them with the human genome.
They were able to identify (“annotate”) TEs through this comparison that may have gone unnoticed in earlier research based solely on human genome data.
By employing this method, the researchers discovered a greater quantity of TEs than was previously recognised, considerably increasing the portion of human DNA that TEs contribute. Moreover, they could show that these recently discovered TE sequences served the same regulatory functions as their more recent, known counterparts.
The list of possible uses is extensive.
Better understanding Transposable Elements (TEs) and their regulators could lead to insights into human diseases, many of which are believed to be influenced by genetic factors. First and foremost, cancer, but also auto-immune and metabolic disorders, and more generally our body’s response to environmental stresses and aging.”
Didier Trono at EPFL
