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This Week in PNAS: Dec 4, 2018

Researchers from Kyoto University and elsewhere report on genetic contributors to the systemic blood vessel inflammation condition Takayasu arteritis (TAK), identified with a genome-wide association study, functional annotation, and pathway-based analyses. Based on data for 633 individuals with TAK and more than 5,900 unaffected control individuals, the team tracked down four new risk loci with significant ties to TAK, while fine-mapping a known susceptibility locus at the human leukocyte antigen locus HLA-B*52 and fleshing out a role for the immune system's natural killer cells in TAK with enhancer enrichment analyses. "Not only the associations in the HLA region but also non-significant associations from GWAS suggest the involvement of [natural killer] cells," the authors write.

An international team led by investigators in China describes more than a dozen expression-based subgroups for B-cell precursor acute lymphoblastic leukemia. Using RNA sequencing, the researchers looked at the transcriptional landscape in 1,223 BCP ALL cases, providing an improved look at eight known expression subgroups and six subgroups not described in the childhood blood cancer previously. At least some of the new subgroups — marked by specific gene fusions or mutations — seem to provide clues to BCP ALL classification and prognosis, the authors report, noting that "RNA sequencing should be a valuable tool in the routine diagnostic workup for ALL."

University of Alabama at Birmingham researchers explore DNA template sequence effects on RNA polymerase I (Pol I) transcription elongation kinetics in vitro and in vivo. After looking at the ways that Pol I activity was altered in Saccharomyces cerevisiae containing an Escherichia coli terminator motif, the team used native elongating transcript sequencing to find ribosomal DNA positions that prompted Pol I pausing in response in the S. cerevisiae budding yeast in vivo. "These data demonstrate that DNA template sequence elements directly influence Pol I transcription elongation," the investigators report, adding that "we have developed the necessary experimental and analytical methods to investigate these perturbations in living cells going forward."