Scientists from the University of California San Diego have made a groundbreaking discovery about the link between the topography of the human genome and the presence of mutations in human cancer. Their findings, recently published in the journal Cell Reports, suggest that certain regions of the genome act as hotspots for the accumulation of mutations. This discovery highlights the potential influence of the human genome’s 3D structure in the development of cancer.
The human genome has a rich topography with different structures, shapes, and features, much like Earth’s diverse landscapes. The researchers conducted a comprehensive study to understand how the genomic topography influences the location of mutations across the human genome in cancer. They found that different topographic features in the genome create an environment that fosters specific mutations.
Interestingly, mutations in cancer do not accumulate randomly across the genome. Instead, they tend to accumulate in certain regions that have distinct features. To analyze these effects, the researchers studied 516 topographical features and their impact on mutational signatures in 5,120 whole-genome sequenced tumors across 40 different cancer types.
One key finding was that mutational signatures associated with alcohol consumption tend to accumulate in regions of the genome that are copied early during cell division. This contradicts the expectation that mutations would arise more frequently in regions copied in later stages of cell division, where errors are more common. Additionally, the researchers discovered that mutational signatures tied to the antiviral activity of a group of enzymes called APOBEC3 deaminases were found in both early- and late-replicated regions of the genome.
To facilitate future studies on the role of topographical features in cancer development, evolution, and treatment, the researchers have compiled their findings into an online resource. This resource will provide valuable insights for further research in understanding the complex relationship between genomic topography and cancer mutations.
This groundbreaking study sheds new light on how the topography of the human genome influences the accumulation of mutations in cancer. It highlights the potential impact of the genome’s 3D structure and offers a new avenue for further research in cancer development and treatment. With the online resource compiled by the researchers, scientists will have access to valuable data and insights to expand our understanding of the role of topographical features in cancer progression.
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