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This Week in PLOS: May 21, 2018

In PLOS Genetics, researchers from France, the US, and Germany describe a mutation in the KAT2B enzyme-coding gene that appears to broaden the clinical symptoms found in individuals carrying ADD3 mutations implicated in intellectual disability, microcephaly, cataracts, and skeletal defects. Starting with exome sequencing on individuals from three families with ADD3, the team narrowed in on a homozygous KAT2B variant that appeared to coincide with still other symptoms such as cardiomyopathy in one of the ADD3 mutation-affected families. To tease out the consequences of each mutation, they went on to perform a series of experiments in the Drosophila fruit fly model. "Altogether, our studies describe the expansion of the phenotypic spectrum in ADD3 deficiency associated with a homozygous, likely pathogenic KAT2B variant," the authors write, "and thereby identify KAT2B as a susceptibility gene for kidney and heart disease in ADD3-associated disorders."

A team from Portugal presents a comparative genomic analysis of symbiotic Pseudovibrio bacteria for a paper appearing in PLOS One. Using Pseudovibrio genome sequences present in sequence databases, the researchers re-ordered contigs and re-annotated the genomes for 18 Pseudovibrio representatives, using the sequences for phylogenetic and comparative analyses of species known for associating with a wide range of marine organisms ranging from sponges and corals to tunicates and flatworms. Along with shared features in the Pseudovibrio representatives associated with sponges or coral, for example, they highlighted genome reductions and other adaptations in flatworm- and sponge-associated representatives.

Researchers from the University of Wisconsin, Madison, and elsewhere explore variants associated with mania in a mouse model for another PLOS One paper. The team did exome sequencing on a handful of representatives from an inbred mouse strain known for exhibiting manic behavior, in combination with genotyping on 64 mice from the mania-prone strain and control strains. The search led to nearly 450 suspicious structural variants. Bringing in additional expression and annotation data, the authors narrowed in on 11 non-synonymous protein-coding variants with potential ties to the behavior, which is used to model human bipolar disorder. "[T]he structural genomic changes we have documented here represent initial behaviorally relevant genomic alterations in these mice that may have relevance to [bipolar spectrum disorders]," they write.