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This Week in Cell: Jun 29, 2016

A team from Harvard University and the Broad Institute describes the massively parallel reporter assay it used to detect variants that can modulate gene expression. Using this variation on the traditional reporter gene assay strategy, which involves DNA barcoding and other tweaks, the researchers tested the gene expression effects of more than 32,000 variants falling at thousands of gene-neighboring expression quantitative trait loci that had been identified in lymphoblastoid cell lines, using a 79,000 oligo library. In two lymphoblastoid cell lines, they uncovered more than 800 apparent expression-modulating variants, or emVars — a set that included 53 variants implicated in human traits or disease.

Researchers from the US and Germany report on variants influencing red blood cell features, which they found using their own massively parallel reporter assay followed by genome editing. The team simultaneously screened almost 2,800 variants found in linkage disequilibrium with 75 variants implicated in red blood cell traits through genome-wide association studies. The search led to 32 functional variants in linkage disequilibrium with almost two-dozen of the variants identified by GWAS, while the investigators targeted genome editing follow-up led to gene targets for three of these MPRA functional variants.

American, Norwegian, and French researchers find evidence of an immune regulatory role for a long intergenic non-coding RNA called lincRNA-EPS. With a combination of quantitative RT-PCR, RNA sequencing on macrophage immune cells from mice missing the lincRNA, and gain-of-function experiments, the team saw a rise in inflammation in the absence of lincRNA-EPS and other results consistent with an inflammatory repressive function for the lincRNA. "Together, these findings identify lincRNA-EPS as a repressor of inflammatory responses, highlighting the importance of lincRNAs in the immune system, the study's authors write.