In PLOS Genetics, French researchers describe a role for mutations in the NEK8 gene in a ciliopathy disorder with overlapping features that include a kidney disease called severe syndromic renal cystic dysplasia and other conditions. In search of new ciliopathy-related mutations, the team did exon-enriched sequencing on more than 1,200 ciliary genes in 342 ciliopathy patients with kidney symptoms and 200 samples from fetuses or neonatal deaths with related features. After identifying NEK8 mutations in affected individuals from five families, the investigators delved into the functional effects of such mutations in patient fibroblasts and other cell lines, uncovering shifts in ciliogenesis, cell proliferation, and other processes due to changes in regulation of a signaling effector called YAP.
A team from the US, UK, and Papua New Guinea present results from a sequencing-based effort to characterize mosquito blood meal composition for a paper published in PLOS Neglected Tropical Diseases. Using a high-throughput sequencing approach that allowed analysis of 96 mosquito blood meal samples at a time, the researchers did mammalian 16S ribosomal gene sequencing on samples from 442 female Anopheles punctulatus mosquitoes from Papua New Guinea. Their results suggested that at least 16 percent of the mosquitoes had consumed blood from more than one host, with the most frequently detected 16S sequences coming from humans, dogs, and pigs. "Overall, this approach enables unbiased characterization of mosquito blood meals," the group writes, "and can be easily applied to significantly improve our understanding of the feeding behavior of any disease-transmitting insect."
Finally, researchers from China reporting in PLOS One explore relationships between the tea species Camellia sinensis and its wild relatives using variants identified by genome-wide restriction site-associated DNA sequencing (RAD-seq). The team's RAD-seq analyses on 18 cultivated and wild tea accessions uncovered more than 15,000 SNPs that clustered the plants into half a dozen phylogenetic groups with a species called C. taliensis var. bangwei falling between wild and cultivated tea plants. The available variant data also pointed to 13 genes showing signs of positive selection that seemed to coincide with tea plant domestication.