Scientists from the Research Center for Molecular Medicine and Chronic Diseases of the University of Santiago de Compostela, led by José Tubio, are studying a little-researched phenomenon capable of giving rise to cancer: the jump of genes from one place in the genome to another.
“We know this material with mobile capacity as jumping genes or, more technically, retrotransposons”, explains Tubio. “It is about genetic material present in the nucleus of our cells that has the ability to jump and change its location. During these jumps, they can alter the region in which they land, causing a genetic mutation. We know that these types of mutations have occurred throughout our evolution, and that they can also be the cause of diseases such as cancer”, adds the researcher.
“On the other hand, retrotransposons have the potential capacity to modify the activity of genes that are in their environment”, comments Tubio. “This occurs because our genetic material is not only linear, but it is folded in the three dimensions of space, so that retrotransposons can interact with genes located at great distances”, he reasons.
Like the genes they study, Tubio's team intends to take a leap forward in the way of observing the mutations caused by this type of genetic material, focusing on the regulatory potential of these sequences in the 3D context of the cancer genome. To do this, he uses cutting-edge molecular biology and bioinformatics techniques, which he will apply to investigate a cohort of patients with esophageal cancer, in which the activity of jumping genes is very frequent.
“It is a type of genetic mutation that has hardly been explored. If we decipher its role in esophageal cancer with the techniques that we are developing, we will be able to apply this knowledge to other types of cancer that are more frequent in the population, such as lung cancer, oral cancer, or colorectal cancer.", he concludes.
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