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This Week in Cell: May 7, 2014

A pair of Cell studies implicated a mutation in the CLP1 gene in a newly described condition characterized by brain defects, neurodegeneration, and other symptoms. Researchers from the Baylor College of Medicine, Austrian Academy of Sciences, and elsewhere found the genetic glitch — a homozygous missense mutation in the RNA kinase-coding CLP1 gene — through exome sequencing on four individuals from families affected by an unknown neurological condition. It was also detected in members of families with similar syndromes in that study. Meanwhile, members of another international team tracked down the CLP1 mutation as part of an exome sequencing study of consanguineous families with undiagnosed neurological or neurodegenerative conditions. GenomeWeb Daily News has more on the studies, here.

Researchers from the Netherlands and Germany describe a handful of substitution mutations that affect the influenza A/H5N1 virus' ability to be transmitted by air. By testing recombinant versions of the airborne A/Indonesia/5/05 strain in ferrets, the team detected five key substitutions related to airborne transmission. That substitution set arose relatively quickly in the ferret model, authors of the study note, apparently reflecting strong selection for alterations affecting such flu features. "The identification of previously unrecognized substitutions and phenotypic traits responsible for influenza virus transmission is key to increasing our fundamental understanding of airborne spread of influenza virus," they say, "and may ultimately increase prognostic capabilities and diagnostic value of surveillance studies necessary for pandemic preparedness."

A National Institutes of Health-led team used a systems biology approach to look at genetic variations in the immune system that can impact an individual's response to vaccination. To that end, the researchers did array-based transcriptome profiling on mononuclear cells in blood samples from 63 individuals before and after vaccination. Along with serum titer testing, blood cell type population profiling, and immune cell response measurements, that gene expression information helped in developing preliminary models for predicting vaccine response, the study authors report. "Strikingly, independent of age and pre-existing antibody titers," they write, "accurate models could be constructed using pre-perturbation cell populations alone."