In PLOS Genetics, a team from the Cleveland Clinic and Case Western Reserve University explore enhanced cancer predisposition in PTEN mutation-free individuals with conditions called Cowden/Cowden-like (CS/CS-like) syndrome and Bannayan-Riley-Ruvalcaba syndrome (BRRS). A subset of individuals with each condition carries cancer-related germline PTEN mutations, the researchers say. But cancer risk appears to rise even in individuals with CS/CS-like syndrome or BRRS who do not have PTEN mutations, prompting a four-year prospective study of these patients. Using a combination of exome and targeted sequencing, the authors searched for pathogenic or likely pathogenic variants in the ACMG59 genes and two dozen other cancer-associated genes, uncovering suspicious mutations in genes such as BRCA1/2, MUTYH, and RET in 8 percent of the PTEN mutation-free CS/CS-like or BRRS patients.
Researchers from the UK and Italy report on genomic patterns in desiccation-tolerant and -intolerant bdelloid rotifer species in PLOS Biology. The team did high-quality draft genome sequencing and comparative genomics on three species of the microscopic, freshwater, asexually reproducing invertebrates: Rotaria macrura, R. magnacalcarata, and Adineta ricciae. By comparing these sequences to one another and to available sequences for A. vaga, the investigators identified tetraploidy in the shared bdelloid rotifer ancestor, without clear homologous divergence in the water-dependent Rotaria species relative to the desiccation-tolerant Adineta species. "We find that many proposed genomic consequences of asexuality and desiccation tolerance do not hold true for all species," the authors write, noting that bdelloid rotifer genomes "may be more similar to those of other animals than previously thought, though a remarkable exception is the high proportion of genes acquired horizontally from non-metazoan taxa."
For a paper appearing in PLOS One, a Korean team outlines immune regulatory gene expression profiles pointing to sub-clinical cattle infection with Mycobacterium avium subspecies paratuberculosis, a microbe that causes a chronic wasting disease known as Johne's disease or paratuberculosis. Using PCR and ELISA, the researchers tested blood samples from 79 heifers, distinguishing between 27 uninfected animals and four groups of animals with M. avium paratuberculosis infections. From there, they narrowed in on a handful of immune regulatory genes showing distinct expression in cattle whole blood by real-time PCR depending on the infection stage considered, along with immune regulatory profiles that appeared to coincide with M. avium paratuberculosis in the host animals.