In Nature this week, researchers at the University of California, Berkeley, report that ppk28 is central to the molecular basis for behavioral responses to water in Drosophila. Using molecular, cellular, and calcium imaging, as well as electrophysiological methods, the team shows that "ppk28 is expressed in water-sensing neurons, and that loss of ppk28 abolishes water sensitivity." The Berkeley team suggests that their study provides "the framework for examining the molecular basis for water detection in other animals."
A team of researchers led by investigators at the University of Toronto report their efforts in "deciphering the 'splicing code.'" The team's code, which "uses hundreds of RNA features to predict tissue-dependent changes in alternative splicing for thousands of exons," elucidates "new classes of splicing patterns, identifies distinct regulatory programs in different tissues, and identifies mutation-verified regulatory sequences," and "facilitates the discovery and detailed characterization of regulated alternative splicing events on a genome-wide scale," the authors write.
Meanwhile, in Nature Methods, investigators at the University of Colorado, Boulder, and their colleagues describe quantitative insights into microbial ecology, or QIIME, an open-source software pipeline for the analysis of high-throughput community sequencing data. QIIME, they say, "supports a wide range of microbial community analyses," and "provides graphical displays that allow users to interact with the data."
And in Nature Genetics, an international research team reports that "de novo mutations of SETBP1 cause Schinzel-Giedion syndrome," a disease characterized by severe mental retardation and multiple congenital malformations, among other things, of which most affected individuals die by age 10. The team "sequenced the exomes of four affected individuals and found heterozygous de novo variants in SETBP1 in all four." Using Sanger sequencing, they also identified SETBP1 mutations in eight additional cases. "All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect," the authors write.