In PLOS Genetics, Yale researchers describe germline and somatic mutations identified in individuals with papillary renal cell carcinoma, a form of kidney cancer that remains difficult to treat. Using exome sequence data for nearly 300 papillary renal cell carcinoma cases, along with whole-genome sequences for 35 more individuals with the disease, the team identified alterations affecting new and known papillary renal cell carcinoma contributors. Among them: mutations with potential ties to patient outcomes and alterations affecting non-coding regions of the genome. "Beyond traditionally driver events, we suggested several novel non-coding alterations [that] potentially drive tumorigenesis," the authors note. "We also provided insights to tumor heterogeneity through investigating the mutational patterns, landscape, and evolutionary profiles."
A team from the Chinese Academy of Sciences takes a look at the microRNA repertoire of a cold- and alkaline-adapted fish called the Tibetan naked carp (Gymnocypris przewalskii) for a paper in PLOS One. The researchers did small RNA sequencing on four G. przewalskii larvae hatched from fish caught in China's Lake Qinghai in 2014, narrowing in on 43 new and 998 conserved miRNAs that were brought forward for phylogenetic and expression experiments. In addition to offering insights into the miRNAs involved in gene regulation in the Tibetan naked carp, the study's authors argue that their findings point to a potential role for miRNAs in the fish's adaptive abilities.
For another PLOS One study, researchers from Norway describe findings from a targeted sequencing study of hereditary ataxia and spastic paraplegia — a diverse set of neurodegenerative, spino-cerebellar disorders that are each caused by mutations in individual genes. Through gene panel sequencing on 105 individuals with early- or late-onset hereditary ataxia or hereditary spastic paraplegia who had not yet received a molecular diagnosis, the team tracked down pathogenic or likely pathogenic variants in 12 spastic paraplegia cases and eight ataxia cases, along with 10 individuals who had variants of unknown significance.