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Alkan C. Personalized copy number and segmental duplication maps using next-generation sequencing. Jeffs A. Montagna M. In recent years, researchers at Johns Hopkins studied transposons in tumors, mapped them in the genomes of many people and studied them in other animals. One could imagine a transposon inserting itself into a beneficial gene—a tumor suppressor, say—and silencing it.
Transposons have other ways of disrupting the genome. They can promote recombination, meaning they provide sites with matching DNA on different chromosomes that make it easier for the chromosomes to swap DNA. That can put whole segments of chromosomes where they don't belong. It seems logical that transposition could contribute to cancer. They may just be followers," Kazazian says. Other researchers have found active LINE-1s in lung cancer. But people have looked at plenty of other tumor types without finding active transposition, including glioblastoma, medulloblastoma, leukemia and breast cancer.
Kazazian's group is now looking for evidence of LINE-1 activity in esophageal cancer and in precancerous lesions. The aim of all of this research is to understand when and where retrotransposition happens and whether it can impact tumor development. Transposons are also likely to be important in how normal cells function, since they make up a large portion of our DNA.
But new techniques have made it possible. They found that there are about insertions of young LINE-1 elements in each human's genome, the locations of which vary by person. You can, without bias, have a complete catalogue of insertions," Burns says. Boeke's group invented the approach in to find transposons in yeast, and Burns adapted it for human DNA. The new method is more accurate at finding LINEs and can more precisely describe their location.
Researchers can use this information on differences between people to test all sorts of hypotheses. For example, they might want to find out whether particular insertions correlate with particular traits or disorders.
Retrotransposons are also used to study evolution. When a retrotransposon makes a copy and replicates itself in a germ line cell, the new copy is in the organism's descendants forever.
That means scientists can look at insertion sites in different organisms to learn about their evolutionary relationships.
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