Using sci-ATAC-seq, researchers from the University of Washington profiled genome-wide chromatin accessibility in about 100,000 cells from more than a dozen adult mouse tissues. As the researchers report in Cell, they uncovered 85 different patterns of chromatin accessibility. They add that they were able to use the data they generated to link regulatory elements to their gene targets, examine the transcription factor grammar that specifies different cell types, and map single-cell gene expression data to the single-cell chromatin accessibility data. By combining this chromatin accessibility data with human genome-wide association data, the researchers could also resolve cell types that underlying common human traits and disease.
An international team of researchers finds that urea cycle dysregulation is present across multiple cancer types. This dysregulation leads to an increase in cellular pyrimidine levels as well as elevated purine to pyrimidine transversions at the DNA level, especially on the sense strand, they say, adding that that leads to the changes being passed from the DNA to the RNA and protein levels where it influences proliferation, mutagenesis, and survival. Such UCD-related metabolites could be harnessed as early biomarkers for cancer detection, the researchers note. They further add that this mutational bias is associated with an enhanced response to immune checkpoint inhibitors.
Researchers from Stony Brook University and elsewhere uncovered no evidence of positive selection on FOXP2, which is thought to have a key role in the evolution of modern language in people. A previous study had found FOXP2 to be under recent, positive selection in humans, but in a new study in Cell, researchers attribute that finding to the ancestral composition of the cohort the first study sampled. The Stony Brook team instead found no evidence of selection at FOXP2 when they examined data from the Human Genome Diversity Panel and 1000 Genomes Project. GenomeWeb has more on this study, here.