In PLOS Genetics, researchers in Sweden, Germany, and Pakistan report on a role for an isoform of the claudin 10-coding gene CLDN10B in a rare genetic condition characterized by altered sweat glands, insufficient sweating, a lack of tears, poor heat tolerance, and related kidney damage. The team focused on two families from Pakistan that contained more than a dozen affected individuals, using a combination of SNP genotyping, autozygosity mapping, microsatellite marker profiles, linkage analyses, and targeted sequencing to uncover a rare missense mutation affecting both copies of the claudin-10b isoform. The effects of the alteration were analyzed in more detail using cell model, imaging, electron microscopy, and other approaches.
A team from Italy and Spain takes a look at relationships between several eggplant species for a PLOS One study. With the help of genotyping-by-sequencing, the researchers profiled the Brinjal, scarlet, and gboma eggplant species (Solanum melongena, S. aethiopicum, and S. macrocarpon, respectively), along with intermediate and wild accessions. From eggplant sequences aligned to the eggplant reference genome, they detected nearly 75,400 polymorphisms — variants that revealed four main eggplant sub-groups and offered a glimpse at the levels of genetic diversity across the cultivated and wild eggplant accessions.
For another PLOS One paper, Brazilian and American investigators explore relationships between diet, dental caries, and oral microbiome patterns in more than a dozen 12-year-old children. Using 16S ribosomal RNA sequencing, the team profiled microbial community membership in 46 permanent molar biofilm samples from 13 children, uncovering bacteria from 10 phyla and ore than 700 species. The results pointed to diminished bacterial diversity on tooth surfaces from children with high levels of fermentable carbohydrate consumption, for example, along with altered oral microbiome composition in biofilms from molars with or without dental disease.