In PLOS One, a Washington University School of Medicine team describes a missense variant that appears to contribute to an autosomal dominant form of primary open-angle glaucoma that begins manifesting itself in adulthood. The researchers did exome sequencing and linkage analyses on members of a large, multi-generation African-American family affected by the progressive eye disease, uncovering a glaucoma-associated missense variant in a fibulin family gene called EFEMP1. Their follow-up experiments in mice suggest EFEMP1 transcripts localize to structures in the eye, while cell line studies suggest mutant forms of the gene prompt unusual accumulation of the resulting protein.
Researchers from South Africa and Belgium explore the genetics of acaricide insecticide resistance in the Asiatic cattle tick, Rhipicephalus microplus for another PLOS One paper. Starting with two receptor gene SNPs suspected of contributing to resistance to acaricide compounds such as amitraz, the team looked at the resistance or susceptibility of Asiatic cattle tick larvae from Kruger National Park using targeted sequencing. In addition to supporting a role for receptor SNPs in amitraz resistance, the work uncovered recombination and reproductive features that seem to contribute to the evolution of this resistance. Finally, the study's authors propose a resistance fragment length polymorphism-based test for tracking Asiatic cattle tick amitraz resistance.
Finally, Korean researchers reporting in PLOS One outline findings from a genome sequencing study of a gastroenteritis-causing sapovirus known as ROK62 that was recently discovered in Korea. Using RNA isolated from the stool sample of a Korean infant with acute gastroenteritis, the team put together a genome for ROK62 that spans more than 7,400 nucleotides and contains three open reading frames. A phylogenetic look at the virus suggests it's most closely related to a sapovirus strain from Manchester, the study's authors say, noting that "[p]hylogenetic analysis of the currently circulating [sapovirus] strains is necessary in order to remain updated regarding the rapid evolution of the [sapovirus] strains."