In PLOS Genetics, researchers from Switzerland, the US, Finland, and the UK describe a single base deletion in the NME5 gene that appears to contribute to primary ciliary dyskinesia (PCD) in Alaskan Malamutes. The team used a combination of whole-genome sequencing, linkage, and homozygosity mapping in half a dozen Alaskan Malamutes from a family affected by PCD, a rare, inherited genetic condition that affects motile cilia, leading to chronic respiratory tract infections, fertility problems, and other symptoms. Based on results in two puppies with PCD and their unaffected parents and siblings, compared with available sequences from more than 600 unaffected dogs, the authors narrowed in on an autosomal recessively inherited NME5 deletion that was subsequently tested in additional dogs with or without PCD and in a mouse model of the disease. "Our results enable genetic testing in dogs and identify NME5 as [a] novel candidate gene for unsolved human PCD cases," they write.
A Canadian Food Inspection Agency team tracks the movement of Arctic fox-related rabies viruses in the province of Ontario for a paper in PLOS Neglected Tropical Diseases. In an effort to understand the resurgence of rabies cases in skunks in southwestern Ontario in 2015 after a three year hiatus, the researchers analyzed new and available whole-genome sequences for 128 rabies virus isolates collected in Ontario between the 1990s and the present. Their phylogenetic analyses argued against a recent new introduction of rabies viruses from the Arctic fox-related lineage. Instead, the authors conclude that "the variant responsible for current cases in southwestern Ontario has evolved from those variants known to circulate in Ontario previously," suggesting that "persistence of wildlife rabies went undetected in the study for almost three years."
For a paper in PLOS One, researchers in Japan report on potential microRNA markers for drug response in metastatic breast cancer patients treated with the chemotherapy drug eribulin (marketed as Halaven by Eisai) following prior anthracycline and taxane therapy. Using miRNA arrays and prediction modeling, the team searched for informative miRNAs in blood serum samples collected before and after eribulin treatment in 147 metastatic breast cancer patients, comparing miRNA profiles in the 95 patients who remained new metastasis-free over 117 months of follow up, on average, with 52 patients who did not. Eight serum miRNAs had apparent ties to new distant metastasis, the authors report, and two of those — miR-8089 and miR-5698 — appeared to be significantly associated with overall survival in the eribulin-treated metastatic breast cancer patients.