A University College London Institute of Ophthalmology-led team describes SPATA13/ASEF2 gene mutations that appear to contribute to a form of glaucoma for a paper in PLOS Genetics. The researchers relied on genome sequencing, in combination with genetic linkage analyses, to search for genetic culprits behind primary angle-closure glaucoma (PACG) in members of an affected multi-generation Caucasian family. Their search led to a recurrent SPATA13/ASEF2 deletion that was subsequently found to bump up the guanine nucleotide exchange factor activity of the resulting protein. From these and other results, the authors propose a mitotic regulatory role for SPATA13 that can be altered by PACG-related mutations. "This gene is involved in cell division and is highly expressed in parts of the eye affected by the disease," they write, adding that uncovering PACG-causing mutations in SPATA13/ASEF2 "helps to further the understanding of glaucoma etiology and identifies potential therapeutic targets for disease management."
In another PLOS Genetics study, researchers from Chile, France, and the US use genome sequencing to trace cold-tolerant lager yeast ancestors back to Patagonia. By sequencing dozens of Saccharomyces eubayanus strains from Patagonia, and analyzing them phylogenetically in conjunction with available sequences, the team tracked down five S. eubayanus lineages and enhanced genetic diversity in representatives from Patagonia, where strains found in other parts of the world appear to have originated. "Our genome analysis, together with previous reports in the sister species S. uvarum suggests that a S. eubayanus ancestor was adapted to the harsh environmental conditions of Patagonia, a region that provides the ecological conditions for the diversification of these ancestral lineages," they write.
Investigators in Myanmar and New Zealand present findings from a genome sequencing-based search for microbial contributors to bloodstream infections in almost 1,000 adolescent or young adult patients treated for fever at a hospital in Myanmar. As they report in PLOS Neglected Tropical Diseases, the researchers uncovered bloodstream infections in 90 of the 947 patients profiled, and used whole-genome sequencing to track down resistance genes and mechanisms in the associated bacteria behind these and other infections found in the prospective study. "We found that almost 10 percent of the participants had a bloodstream infection, and that Salmonella enterica serovars Typhi and Paratyphi A were the most common pathogens," they report, noting that such results "inform empiric antimicrobial management of severe febrile illness, underscore the value of routine use of blood cultures, indicate that measures to prevent and control enteric fever are warranted, and suggest a need to monitor and mitigate antimicrobial resistance among community-acquired pathogens."