Skip to main content
Premium Trial:

Request an Annual Quote

This Week in PLOS: Feb 11, 2019

In PLOS Genetics, researchers from the Karolinska Institute and elsewhere map breakpoints in three individuals with complex chromosomal rearrangements. Using molecular cytogenetics — along with short-read sequencing, optical mapping, linked-read mapping, and long-read genome sequencing — the team found multiple clinically informative breakpoints in two individuals with de novo, karyotypically balanced, rearrangements involving multiple chromosomes and one individual with "de novo, extremely complex" rearrangements centered on chromosome 1. The authors note that their results "demonstrate how different high throughput genomic methods can add clinical relevant information to conventional molecular analysis methods and enable characterization of the true nature of de novo [complex chromosomal rearrangements]." 

A German team examines functions for a multiple sclerosis-associated variant in another PLOS Genetics paper. Using publicly available blood cell RNA sequence and/or array-based expression data for more than 1,000 individuals, the researchers did an expression quantitative trait locus analysis that focused on potential functions for an MS risk SNP within the microRNA miR-548ac, which itself falls in CD58 gene intron. They also relied on cell culture experiments and real-time PCR-based profiling to explore miRNA and CD58 interactions in blood samples from dozens of individuals with MS. Together, their results suggest mature miR-548ac may regulate processes such as inflammation, protein folding, and protein degradation, with levels of the miR-548ac rising and CD58 expression waning in the presence of the MS risk SNP. 

A Simon Fraser University-led team presents a genome sequence for a virus that pathogenizes a cereal crop pest, the African armyworm (Spodoptera exempta), in PLOS One. The researchers identified 139 open read frames and 38 core baculovirus family genes in the more than 129,000 base genome of Spodoptera exempta nucleopolyhedrovirus, or SpexNPV, starting from alphabaculovirus occlusion bodies in African armyworms killed by viruses. With this new SpexNPV reference genome, the authors explore SpexNPV features and relationships, noting that the virus "has been evaluated as a potential insecticide for control of [African armyworm] and has served as the subject of research on baculovirus pathology and transmission."