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PLOS Papers on Chronic Kidney Disease, Rhodesian Ridgeback Hearing Loss, More

In PLOS Genetics, researchers from Germany and Finland report on findings from a genome-wide association study focused on blood serum levels of osteopontin (OPN), a phosphorylated glycoprotein implicated in several chronic kidney disease (CKD) features. The team narrowed in on three loci with significant ties to serum OPN levels in GWAS and aggregated rare variant testing analyses that included nearly 4,900 individuals enrolled in the German Chronic Kidney Disease study, subsequently replicating two associations at sites upstream of the OPN-coding gene SPP1 and in the KLKB1 in a population study known as the Young Finns Study. "Among others, downstream analyses revealed co-localization of the OPN association signal at SPP1 with expression in pancreas tissue, and at KLKB1 with various plasma proteins in trans, and with phenotypes … in human tissue," the authors report, adding that the findings so far "highlight the multi-functional role of OPN and its possible pathological role in CKD."

A team from Embark Veterinary, ProjectDog, and Cornell University describe a hearing loss-related deletion detected in the EPS8L2 gene in a Rhodesian Ridgeback dog model of progressive hearing loss. As they report in PLOS One, the researchers conducted a hereditary hearing disorder GWAS involving 23 Rhodesian Ridgeback dogs with early-onset adult deafness (EOAD) and 162 without, flagging a canine chromosome 18 with significant EOAD associations. With additional targeted sequencing and SNP genotyping analyses, the authors identified an in-frame Ridgeback deletion in both copies of the EPS8L2 gene in EOAD-affected dogs. "Since EPS8L2 plays a critical role in the maintenance and integrity of the inner ear hair cells in humans and other mammals, the in-frame deletion found in this study represents a strong candidate causal mutation for EOAD in Rhodesian Ridgebacks," they report. "Genetic and clinical similarities between childhood deafness in humans and EOAD in Rhodesian Ridgebacks emphasizes the potential value of this dog breed in translational research in hereditary hearing disorders."

A team led by investigators at the University of Wisconsin at Madison shares a spatial transcriptomic analysis of a lymphatic filariasis-causing parasite, a Brugia malayi nematode spread by mosquitoes, for a paper appearing in PLOS Pathogens. Using a combination of low-input RNA sequencing-based spatial transcriptomics and microscopy, the investigators profiled gene expression patterns in specialized B. malayi head region sites implicated in everything from feeding and sensory functions to secretion in dissected adult female nematodes. "These data were used to identify potential new drug and vaccine targets, including putative hidden antigens expressed in the alimentary canal, and to spatially associate receptor subunits belonging to druggable families," the authors write.

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