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PNAS Papers on Ancient European Migrations, Triple-Negative Breast Cancer Fusions, More

Editor's Note: Some of the articles described below are not yet available at the PNAS site, but they are scheduled to be posted some time this week.

Investigators in Denmark, the UK, and Sweden present findings from a geostatistical analysis of ancient human migrations in Europe, focusing on Yamnaya steppe populations making their way west and Anatolian farmers migrating toward the northwest during the Holocene. The team mapped ancient population migrations using available ancient DNA sequences, geostatistical modeling, and additional data on the continent's land cover composition and changes over time, uncovering distinct population movements in relation to Europe's vegetational landscapes. "We show that the two major migrations during the European Holocene had different spatiotemporal structures and expansion rates," the authors report, noting that "the Yamnaya expansion had a stronger association with vegetational landscape changes than the earlier Neolithic farmer expansion."

A team from the University of Pittsburgh and Baylor College of Medicine take a look at adjacent gene rearrangements in hundreds of breast cancer tumors, uncovering a recurrent gene fusion involving BCL2L14 and ETV6 in aggressive breast cancer cases involving the triple-negative breast cancer (TNBC). Based on their analysis of 215 breast cancer whole-genome sequences, the researchers narrowed in on 99 recurrent gene fusions. More than half of those appeared to be cryptic adjacent gene rearrangements, they note, including a BCL2L14-ETV6 fusion that coincided with aggressive breast cancer cases. With follow-up testing on tumors from several more breast cancer cohorts, the authors found this fusion in the TNBC subtype alone, where some 4.4 percent to more than 12 percent of tumors contained the BCL2L14-ETV6 fusion.

Researchers in Spain, Belgium, the US, and Italy explore functional roles for the long non-coding RNA called Lnc13, which contains a SNP that has been linked to type 1 diabetes risk in the past. In experiments done on human pancreatic islet cells containing one or two copies of a type 1 diabetes-associated SNP called rs917997*CC, the team detected a rise in expression for the proinflammatory pathway gene STAT1 when both copies of the risky allele were present. STAT1 pathway activity also got a boost as Lnc13 levels increased in pancreatic beta cells, the authors report, while proinflammatory responses dipped in beta cells with Lnc13 disruptions. From these and other findings, they suggest Lnc13 "may contribute to the pathogenesis of [type 1 diabetes] by increasing pancreatic [beta-cell] inflammation."