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This Week in PLOS: Jun 10, 2019

In PLOS Genetics, an international team led by investigators at the University of British Columbia present a dozen genes and several pathways suspected of contributing to multiple sclerosis development, based on findings from an exome sequencing analysis of MS-affected families. The researchers sequenced protein-coding portions of the genome in 132 individuals with MS from 34 families, uncovering likely pathogenic, rare variants in 12 innate immune system-related genes that appeared to play an outsized role in the advent of MS in the families profiled. "These genes suggest a disruption of interconnected immunological and pro-inflammatory pathways as the initial event in the pathophysiology of familial MS," they report, "and provide the molecular and biological rationale for the chronic inflammation, demyelination, and neurodegeneration observed in MS patients."

Researchers from the UK explore Salmonella enterica diversity in venomous snakes and non-venomous reptiles for a paper appearing in PLOS Neglected Tropical Diseases. Using whole-genome sequencing, comparative genomics, phylogenetics, and other approaches, the team searched for Salmonella in fecal samples from 106 wild caught or captive venomous snakes from Africa, reasoning that "[r]eptile-associated Salmonella bacteria are a major, but often neglected cause of both gastrointestinal and bloodstream infection in humans globally." The authors identified S. enterica isolates in 91 percent of the venomous snakes, representing 58 serovars and four S. enterica sub-species falling in two phylogenetic clusters. After comparing the genomes to sequences reported for more than two dozen Salmonella isolates from non-venomous or venomous reptiles in the past, they suggest that "venomous snakes could be a reservoir for Salmonella serovars associated with human salmonellosis." 

A team from Mexico, Spain, and the US take a look at the possibility of using whole-genome sequencing to diagnose drug-resistant forms of tuberculosis-causing Mycobacterium tuberculosis in Mexico. As they report in PLOS One, the researchers initially did whole-genome sequencing on 81 clinical isolates containing drug-resistant mycobacterial strains from a collection in Veracruz, Mexico. In addition to identifying hundreds of resistance-related variants in these strains, they explored M. tuberculosis relationships and transmission clusters, before attempting to put together a genotype-based method for predicting resistance to isoniazid, rifampicin, ethambutol, pyrazinamide, or streptomycin drugs based on such whole-genome sequences.