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This Week in PLOS: Oct 31, 2016

A French-led team reporting in PLOS Genetics describes a variant in the PHACTR1 gene that's involved in a non-atherosclerotic vascular condition called fibromuscular dysplasia, which can lead to high blood pressure or stroke. The researchers focused on common variants in exome chip data for 249 individuals with fibromuscular dysplasia and 689 unaffected controls, narrowing in on 13 loci for subsequent testing in another 402 cases and more than 2,500 controls. In the process, they uncovered an association between fibromuscular dysplasia and a variant in an intron of the chromosome 6 gene PHACTR1 that was further validated in hundreds more individuals with or without fibromuscular dysplasia. The group's follow-up experiments hint that the associated variant can alter the gene's expression in human fibroblast cells, potentially altering vascular features.

In PLOS One, researchers from Ecuador and Spain explore genetic diversity in Macabea cattle, an endangered Amazonian Bos taurus breed adapted to tropical conditions. Using a microsatellite marker panel, the team analyzed hair samples from more than two dozen Macabea cattle from eight Ecuadorian herds. Compared with genetic profiles in other breeds, including milk and beef cattle from Europe, the Macabea cattle were genetically stable and appear to be related to breeds from southern Spain. "[W]e demonstrated that the Macabea breed originated from Spanish cattle populations located in the Pacific coastal regions of Colombia and Ecuador during the period of colonization," the authors write, noting that the animals "were further introduced in the local native nationalities during the invasion and interactions that occurred at the end of the 16th century."

An international team led by investigators in Germany presents findings from a population study of the harbor porpoise for another PLOS One paper. The researchers focused on nearly 2,900 SNPs assessed by double digest restriction-site associated DNA sequencing — along with mitochondrial haplotype patterns and microsatellite markers at more than a dozen loci — in 44 harbor porpoise samples from the Baltic Sea and other European sites. With these genetic data, they found that the harbor porpoise populations fell into three main clusters roughly corresponding with animals in the Black Sea, North Atlantic, and Baltic Sea. The results also pointed to more subtle genetic differences between harbor porpoises in the Inner Baltic Sea and the Belt Sea.