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This Week in PNAS: Oct 23, 2018

In the early, online version of the Proceedings of the National Academy of Sciences, researchers from China and the US describe de novo NUS1 mutations that appear to contribute to Parkinson's disease risk in individuals of Han Chinese ancestry. Using exome sequencing, the team assessed 39 individuals with early-onset Parkinson's disease, along with their parents and 20 of their unaffected siblings. In the process, they found de novo mutations in NUS1 and 11 other genes, which were subsequently screened in thousands more cases and controls in validation cohorts. There, NUS1 contained significantly more rare, non-synonymous changes in the Parkinson's cases, prompting functional studies in the Drosophila fruit fly model.

A team from the US and Japan searches for alterations suspected of contributing to forms of hepatocellular carcinoma that stems from non-alcoholic fatty liver disease (NAFLD) using genome-wide Sleeping Beauty transposon mutagenesis and high-throughput sequencing in mouse models of the disease. In NAFLD-HCC mouse model missing the PTEN gene, for example, the team saw 588 candidate cancer genes. A mouse exposed to a high fat diet revealed 376 candidate cancer genes, including 257 genes found in the PTEN-deficient mice and 141 that also turned up in prior hepatitis B-related HCC screens. Among the suspected cancer drivers that appeared to be specific to NAFLD-HCC, for example, the authors highlighted a frequently mutated gene from the Hippo signaling pathway.

Researchers from the Oak Ridge National Laboratory, North Dakota State University, and elsewhere explore interactions between Populus trichocarpa trees and invasive Sphaerulina musiva fungal pathogens using genome-wide association mapping in thousands of trees from nearly 1,100 genotypes, RNA sequencing on host and pathogen samples, high-throughput phenotyping, and other approaches. With this strategy, the authors identified three loci that appeared to contribute to plant resistance to the pathogens. And, they say, the experimental strategy used "can be broadly applied to rapidly identify candidate genes associated with resistance and susceptibility to introduced plant diseases."