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This Week in PNAS: May 23, 2017

In the early, online edition of the Proceedings of the National Academy of Sciences, researchers from UK, Hungary, Sweden, and France report on evolutionary patterns in archaea. For the analysis, the team brought together information on more than 3,200 single gene trees stitched into a broader genome evolution model that included everything from gene duplications or losses to horizontal gene transfer across tens of thousands of archaeal gene families, retracing archaea relationships and early metabolic patterns. "The reconstructions provide new information about the tempo and mode of genome evolution affecting different Archaea," the authors write, "including estimates of the contributions made by horizontal transfer and lineage-specific evolution to major ecological transitions across the archaeal tree."

Investigators from the University of Cambridge and elsewhere describe a metabolic shift that appear to have helped the Himalayan Sherpa population adapt to life at high-altitude, low-oxygen conditions. The team turned to a combination of genetic, biochemical, and physiological experiments to explore to compare altitude adaptations in 15 Sherpas and 10 lowlander control individuals during a trip to Mount Everest base camp, uncovering more efficient oxygen use, protection from oxidative stress, and other metabolic differences in the high altitude-adapted individuals. "Our findings suggest that metabolic adaptations underpin human evolution to life at high altitude, and could have an impact upon our understanding of human diseases in which hypoxia is a feature," the researchers note.

A German-led team takes a look at the interactions between environmental triggers such as early life stress and genetic susceptibility to schizophrenia, focusing on a gene called HDAC1 that codes for a histone deacetylase enzyme influencing DNA methylation levels. The researchers began by measuring HDAC1 in postmortem brain samples from humans with or without schizophrenia, before tracking the gene in different parts of the brain in mice models of schizophrenia with or without early life stress. Based on findings from these and other experiments — including tests on mice treated with an HDAC1-inhibitor — the authors propose that HDAC inhibition "could represent a suitable therapeutic approach to treat schizophrenia." And, they suggest, it might be possible to stratify patients and tailor their treatments based on blood Hdac1 levels.