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This Week in PNAS: May 17, 2016

Researchers from Uppsala University, the Broad Institute, and elsewhere describe variants in a transcription related, nuclear body protein-coding gene called SD110 that influences degenerative myopathy risk in dogs from the Pembroke Welsh corgi breed. To search for variants that modify the risk in dogs with two copies of superoxide dismutase 1 (SOD1) gene mutation — a homozygous change common to many dogs who develop the ALS-like disease — the team did a genome-wide association study involving SOD1 mutated, at-risk Pembroke Welsh corgis with or without canine degenerative myopathy. The search led to a modifier signal on chromosome 25, where the group subsequently uncovered a SD110 haplotype that was far more common in corgis with disease than those without.

A team from the US and Norway present findings from a genetic screen for genes related to host infection in Vibrio parahaemolyticus, a species linked to a large proportion of seafood-borne food poisoning cases around the world. With the help of transposon insertion sequencing screens done in vitro and in an infant rabbit intestinal system, the researchers narrowed in on genes that appeared to influence V. parahaemolyticus fitness or the bug's ability to successfully set up shop in the guts of an unfortunate host mammal. Some of these represented virulence genes that Vibrio acquired horizontally, while other apparent colonization factors were independent of such virulence genes.

Researchers from Germany and the UK search for naturally occurring mutations that can modify the clinical symptoms produced by Staphylococcus aureus during bloodstream infections. Using its own transposon mutagenesis and sequencing screen in HeLa cells, the team identified infection differences linked to mutations in the S. aureus gene rsp, which was also mutated in at least two patients with lower-than-usual toxicity during S. aureus bloodstream infection. Through a series of follow-up experiments, the investigators identified shifts in transcriptome and proteome of mutants missing the rsp gene, contributing to cytotoxicity changes without altering abscess formation or other infection features.