In PLOS One, a Brazilian team considered the distribution of CYP3A5 haplotypes and related drug metabolizer phenotypes in more than 900 individuals from Brazil who self-identified within one of three racial groups. Using genotyping data for the 909 healthy adults tested, the researchers imputed CYP3A5 haplotypes and metabolic phenotypes before looking at how these features corresponded to self-reported race, geography, and the proportions of Amerindian, African, and European genetic ancestry in individuals' genomes. Based on their findings, the study's authors argued that "the intrinsic heterogeneity of the Brazilian population must be acknowledged in the design and interpretation of pharmacogenomics studies, and dealt with as a continuous variable, rather than proportioned in arbitrary categories that do not capture the diversity of the population."
Researchers from China and the US did genome sequencing on six strains of oil-producing microalgae belonging to five Nannochloropsis species — work that they present in PLOS Genetics. Together with transcript sequence data generated over time for triacylglycerol synthesizing algae from one of the strains, the genome sequences helped the team assess the genomic features and phylogenetics of the algae. For instance, the analysis revealed a relatively small set of core genes shared by the five Nannochloropsis species, though the gene content across the group stretched to more than 38,000 genes. Within that set, investigators uncovered candidate genes from lipid biosynthesis pathways, including sequences that seem to have been acquired from bacteria by horizontal gene transfer.
For another PLOS Genetics study, the University of California at Berkeley's Rasmus Nielsen and colleagues relied on information from autosomes, sex chromosomes, and mitochondrial genome, along with population genetic simulations, to explore the root of the low genetic diversity found in the human Y chromosome. Using sequence data for 16 unrelated men — eight of African ancestry and eight of European ancestry — the group found patterns consistent with purifying selection within Y chromosome sequences. Our sister publication GenomeWeb Daily News has more on the paper, here.