Scientists from the University of California San Diego have discovered a link 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.
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. Credit: Laura Rodríguez Porrashave discovered a link 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.
“When studying the genome of a cancer, we usually assume that mutations accumulate randomly across that genome. However, this is not the case as different parts of the genome have different features,” said Alexandrov. One of this study’s key findings is that several mutational signatures linked to alcohol consumption accumulate in regions of the genome that are copied early during cell division. This connection was specifically seen in three types of cancers: esophageal, head and neck, and liver.
“These findings are significant because a lot of essential genes live in the early-replicated regions of the genome,” said Alexandrov. “Our research shows that certain mutagenic processes are not playing by the regular rules, so they could potentially be hitting key genes and pathways that are normally protected.”
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