In Nature this week, a group of UK and Australian scientists publishes a study of nearly 7,000 children with severe neurodevelopmental disorders typically considered monogenic, finding that common genetic variants influence both the risk and clinical presentation of such conditions. In their analysis, the investigators show that 7.7 percent of variance in risk is attributable to inherited common genetic variation. Additional findings include little difference in common-variant risk between individuals with and without a known protein-coding diagnostic variant — suggesting that common-variant risk affects patients with and without monogenic diagnoses — and a correlation between previously published common-variant scores for autism, height, birth weight, and intracranial volume and these traits within the studied cohort. GenomeWeb has more on this, here.
Meanwhile, in Nature Biotechnology, researchers from Imperial College London describes a CRISPR-Cas9-based gene drive that can cause the complete suppression of a caged population of malaria-carrying mosquitos. The gene drive was designed to target the highly conserved sex-determination pathway in the malarial mosquito Anopheles gambiae, and led to rapid and complete population collapse without the development of resistance. While these results are promising, the gene drive "now needs to be rigorously evaluated in large confined spaces that more closely mimic native ecological conditions," the researchers write. The Scan also covers this, here.
And in Nature Plants, an international research team presents an analysis of fruitENCODE — an encyclopedia of DNA elements for fruit ripening — that reveals the molecular basis for the convergent evolution of fleshy fruit ripening. The fruitENCODE data includes 361 transcriptome, 71 accessible chromatin, 147 histone, and 45 DNA methylation profiles, and the researchers identified three types of transcriptional feedback circuits controlling fruit ripening regulated by ethylene. These circuits, they write, "evolved from senescence or floral organ identity pathways in the ancestral angiosperms either by neofunctionalization or repurposing pre-existing genes." Overall, the findings suggest that the evolution of ripening is constrained by hormonal, genetic, and epigenetic factors, and that whole-genome duplications have provided plants opportunities to overcome these limitations.