In PLoS One this week, researchers at University Children's Hospital in Skopje, Macedonia, along with their colleagues present their genetic and functional analysis of heterozygous missense mutations in SLC22A12 — the gene encoding the urate transporter protein URAT1 — in patients with idiopathic renal hypouricaemia is an inherited form of hypouricaemia. The team says its data highlight "the importance of the URAT1 renal urate transporter in determining serum urate concentrations and the clinical phenotypes, including nephrolithiasis, that should prompt the clinician to suspect an inherited form of renal hypouricaemia."
Over in PLoS Genetics, Yale School of Medicine's Haifan Lin and his colleagues present a high-resolution, whole-genome map of "key chromatin modifications in the adult Drosophila melanogaster." Using ChIP-seq to map these factors at 50 base-pair resolution genome-wide and at five base-pair resolution for regulatory sequences of genes, the team indentified "fundamental features of chromatin modification landscape shared by major adult Drosophila cell types." The team adds that these features, which are "likely conserved among diverse epigenomes, reveal general strategies for chromatin modifications."
Elsewhere in the journal, a team led by researchers at the American Museum of Natural History Sackler Institute for Comparative Genomics presents what it calls "a functional phylogenomic view of the seed plants." Examining 22,833 sets of orthologs from the nuclear genomes of 101 genera across land plants, the team reconstructed phylogenetic relationships. The team says its approach "takes advantage of genomic data to define orthologs, reconstruct relationships, and narrow down candidate genes involved in plant evolution within a phylogenomic view of species' diversification."
Investigators at the University of Wisconsin-Madison this week describe "a deep sequencing approach to comparatively analyze the transcriptome of lifecycle stages of the filarial worm, Brugia malayi," in PLoS Neglected Tropical Diseases. Taking this approach, the team found that the species' "transcriptional program has a number of stage-specific pathways activated during worm development."