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This Week in PLOS: Jul 27, 2015

In PLOS Genetics, researchers from Aarhus University and elsewhere report on a genetic locus that appears to be behind the form of non-syndromic hearing impairment found in a large family from Denmark. Using a combination of linkage analyses, microsatellite markers, and targeted sequencing, the team tested 11 members of a multi-generational family affected by an autosomal dominant form of non-syndromic hearing loss. The search led to a nonsense mutation in the cell adhesion-related gene CD164 on chromosome 6, which was present in affected family members, but absent in those without the condition. The investigators' follow-up work in mouse models and cell lines suggests CD164 codes for a hearing-related trafficking protein that's truncated in individuals with the newly detected mutation.

A PLOS Neglected Tropical Diseases study by a University of California, Los Angeles, team considers mitochondrial genome and transcriptome patterns in two strains of the trypanosomatid parasite Leishmania tarentolae, which causes disease in lizards, but is not believed to be pathogenic to humans. The group did circular consensus sequencing on mitochondrial DNA sequences and transcripts from each strain using the Pacific Biosciences instrument to start teasing details of the post-transcriptional mitochondrial RNA modifications that occur in trypanosomatid parasites. In particular, the researchers unraveled clues to steady state RNA profiles and transcript editing features based on patterns present in so-called maxicircle mitochondrial genomes and for minicircles, which code for guide RNAs involved in mitochondrial RNA editing.

A team from the Translational Genomics Research Institute and the US Centers for Disease Control and Prevention used whole-genome sequencing to track phylogenetic relationships and diversity profiles in Klebsiella pneumoniae isolates from ST258, a strain suspected of expanding to cause multi-drug resistant K. pneumoniae infections in healthcare settings around the world. As they write in PLOS One, the researchers sequenced and analyzed 167 ST258 strains collected over nearly two decades from 20 countries. Based on these sequences, the authors uncovered core genomic features, accessory element patterns, and more in ST258, pinning the advent of the bug's characteristic carbapenemase enzyme-based antibiotic resistance mutations to roughly 1995.