In this week's Science, an international research team publishes a study tracking a recent yellow fever outbreak in Brazil from its origins in non-human primates (NHPs) to its transition to humans. The investigators first confirmed a delay in confirmed cases of the yellow fever in humans compared with NHPs, and discovered that people living or working in forested areas — where infected mosquitoes could feed on both NHPs and humans — were at the greatest risk for the disease. The team also sequenced 62 yellow fever genomes from infected humans and NHPs in Brazil, comparing the results with previously published genomes. The scientists conclude that while the yellow fever epidemic likely began in NHPs, its spread was the result of human activity. A related Perspective piece discusses the importance of modeling disease outbreaks for containing them. GenomeWeb has more on this study, here.
And in Science Translational Medicine this week, a team led by University of California, San Francisco, and Thomas Jefferson University researchers reports the identification of a genetic mutation underlying an aggressive form of skin cancer through a combination of whole-exome, whole-genome, and RNA sequencing. The scientists aimed to understand the genetics of squamous cell carcinoma (SCC) in patients with recessive dystrophic epidermolysis bullosa (RDEB), a rare skin disorder that puts them at high risk for particularly malignant forms of the cancer. They analyzed tumors samples from 26 RDEB patients with SCC, as well as 38 patients with UV-induced SCC and 279 patients with head and neck SCC. The investigators find that RDEB SCC tumors harbored a mutation profile characterized by alterations in the APOBEC family of enzymes, unlike the other tumors. Additional research is required to directly identify the mechanism that makes RDEB SCCs exceptionally aggressive, the authors write, but the data suggest a role for the inflammatory microenvironment in disease progression. GenomeWeb also covers this, here.