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This Week in PLOS: Mar 26, 2018

In PLOS Genetics, investigators at the University of Bern and elsewhere describe a splice variant of the muskelin 1 gene MKLN1 that contributes to a deadly autosomal recessive skin, immune, and growth condition called lethal acrodermatitis (LAD) in Bull Terrier and Miniature Bull Terrier dogs. After mapping the risky locus to chromosome 14 with association and haplotype approaches, the team did whole-genome sequencing on one LAD-affected Bull Terrier, comparing the sequences with those from 191 previously sequenced dogs or wolves. The search led to the splice site change in MKLN1, which was further tied to the condition through case-control testing and expression tests, but was not found in hundreds more LAD-free pooches from other breeds. "Our data from dogs reveal a novel in vivo role for muskelin 1 that is related to the immune system and skin," the authors write, calling MKLN1 "a novel candidate for human patients with unresolved acrodermatitis and/or immune deficiency phenotypes."

A team from Sweden and the US take at potential contributors — including Lactobacillus johnsonii probiotic supplementation — to gut microbe community development in to German Shepherd pups from 30 litters for a paper in PLOS One. The researchers used 16S ribosomal RNA sequencing to assess microbe community members in fecal samples collected from 168 dogs over time when they were between seven weeks and 18 months old, along with the pregnant and lactating mother dogs heading these litters. The analysis offered a look gut microbiome similarities and differences between pups from different litters, locations, and Lactobacillus exposures, for example, as well as effects of pregnancy and lactation in their mothers. The authors argue that following gut microbial communities in the growing puppies and their moms will ultimately offer "a basis for further research on the connection between early gut colonization and immune function later in life." 

Researchers from Kenya and Eritrea use 16S rRNA sequencing to search for potential human pathogens in water and soil samples from five Eritrean hot springs for another PLOS One study. At most of the hot spring sites, the team notes, a significant proportion of reads that matched up with microbe sequences in available databases appeared belong to potential pathogens species in the Proteobacteria, Firmicutes, Legionella, and Clostridium genera. At the Elegedi hot spring, on the other hand, the potential pathogen reads were far less prominent, perhaps owing to the particularly high temperatures and boiling water at this site.