In PLOS Genetics, a team from Drexel University, the University of California, San Francisco, and Old Dominium University take a look at sub-telomeric sequence diversity in individuals from dozens of human populations. Using high-throughput, single DNA molecule optical mapping with a nanochannel array-based approach, the investigators assessed sub-telomeric variants, including structural alterations, in genome sequences for 154 individuals from 26 populations. "The results catalog many novel long-range sub-telomere haplotypes and determine the frequencies and contexts of specific sub-telomeric duplicons on each chromosome arm," they report, "helping to clarify the currently ambiguous nature of many specific sub-telomere structures as represented in the current [human] reference sequence."
For another paper in PLOS Genetics, researchers from the UK, Germany, and Finland describe a variant in the potassium voltage-gated channel-related gene KCNIP4 that appears to play a part in hereditary cerebellar ataxia in a specific dog breed. The team focused in on a handful of suspicious variants with whole-genome sequence data for two progressive cerebellar ataxia-affected dogs from the Norwegian Buhund breed, which were analyzed alongside available genome sequences for more than 400 other dogs. In a subsequent analysis that included whole-genome sequences for more than 800 dogs and genotypes for another 505 ataxia-free dogs, the authors tracked a homozygous KCNIP4 variant in four Norwegian Buhunds with cerebellar ataxia. The KCNIP4 gene "has not previously been implicated in inherited ataxia in any species," they note, "and our findings suggest that this and related genes represent potential candidates for ataxia in future studies in other species."
Romanian researchers present findings from a genome sequencing analysis of multi-drug resistant Klebsiella pneumoniae strains isolated from clinical and environmental sites in the country for a paper in PLOS One. The team did whole-genome sequencing on nearly 200 K. pneumoniae strains from hospital units, wastewater influent, and wastewater effluent, characterizing the sequence types (STs), virulence genes, and antibiotic resistance genes in the isolates. Among other things, for example, the investigators saw hints that at least some of the STs that use carbapenemase enzymes to dodge antibiotics are found in both Romanian hospitals and wastewater. "Our study reveals for the first time the presence of carbapenemase-producing K. pneumoniae [sequence types] in wastewaters, of which ST395 has clinical importance, while ST35 and ST485 are sporadically related to clinical cases," they write.