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This Week in PNAS: Aug 15, 2017

In the early, online version of the Proceedings of the National Academy of Sciences, a Yale University-led team describes de novo mutations in signaling pathway genes that appear to contribute to a congenital craniofacial malformation condition called non-syndromic craniosynostosis. Following on results in mouse models and human cases involving syndromic forms of the disease, the researchers did exome sequencing on members of 291 parent-child trios affected by non-syndromic craniosynostosis, comparing de novo mutation patterns in these trios with those found in nearly 1,800 autism-affected control trios from the Simons simplex collection. In the process, they uncovered 15 individuals with non-syndromic craniosynostosis who had de novo mutations in genes regulating Wnt, BMP, and Ras/ERK signaling pathways.

Investigators affiliated with the University of California, Berkeley, and centers in Korea establish a fungal tree of life based on whole-proteome data gleaned from fungal genomes. Using a computational method called Features Frequency Profile, the team explored fungal relationships in a sequence alignment-free manner that highlighted three main, deeply diverging fungal groups — trimming the main fungal tree branches relative to those found with gene-based phylogenies. "The genome tree reveals several significant and notable differences from the gene trees," the authors note, "and these differences invoke new discussions about alternative narratives for the evolution of some of the currently accepted fungal groups."

A Kansas State University team takes a look at sorghum diversity in relation to plant yields in ever-warmer climates. The researchers tapped into temperature, precipitation, and other types of field trial data for 408 hybrid sorghum cultivar plants grown in Kansas over nearly three decades, from the mid-1980s to 2014. From their regression modeling analyses, the authors saw yields start to fall off for plants grown beyond 33ºC (91ºF), further declining as temperatures increased even in cultivars that are relatively heat tolerant. "These findings suggest the adaptation potential for sorghum under climate change would be greatly facilitated by introducing wider genetic diversity for heat resilience into ongoing breeding programs," they write, "and that there should be additional efforts to improve resilience during the pre-flowering phase."