Researchers at the University of California San Diego have uncovered a connection between the topography of the human genome and the presence of mutations in human cancer.
Reviewed by Megan Craig, M.Sc.Aug 24 2023 They found that certain regions of the genome, which exhibit unique features, act as hotspots for the accumulation of mutations.
However, the genome is far more than that. Like Earth with its diverse landscapes, the genome has a rich topography made up of different structures, shapes and features." Alexandrov's team performed a comprehensive study of how this genomic topography influences where mutations in cancer arise across the human genome. Just as different terrains on Earth foster distinct ecosystems, certain topographic features in the genome seem to provide an environment for specific mutations to thrive.
Related StoriesThe researchers examined all the known genome topographical features and looked for connections with specific patterns of mutations, known as mutational signatures, across all human cancers. In total, they analyzed the effects of 516 topographical features on mutational signatures across 5,120 whole-genome sequenced tumors from 40 cancer types.
The researchers also observed something interesting with mutational signatures tied to the antiviral activity of a set of enzymes known as APOBEC3 deaminases. They found that these mutational signatures accumulate in both early- and late-replicated regions of the genome.
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Topography of the genome influences where cancer mutations thrive, study showsResearchers at the University of California San Diego have uncovered a connection between the topography of the human genome and the presence of mutations in human cancer. They found that certain regions of the genome, which exhibit unique features, act as hotspots for the accumulation of mutations.
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