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This Week in PLoS : Feb 21, 2011

In PLoS Computational Biology this week, a trio of investigators at Portugal's Instituto Gulbenkian de Ciência demonstrate that genetic redundancy is lost as a result of decreased selection for robustness in predicable environments. In interrogating "the evolutionary dynamics of genetic redundancy in extremely reduced genomes," the team found "a selective drive to keep the diversity of protein families while sacrificing paralogy."

In PLoS Genetics this week, an international team led by investigators at the University of Oslo in Norway reports genome-wide transcription profiles for cdka1-fertilized Arabidopsis seeds, with which they "identified approximately 600 genes that are down-regulated in the absence of a paternal genome." AGAMOUS-LIKE genes, in particular, are significantly over-represented among this group, the authors report, adding that "AGL36 parent-of-origin–dependent expression is controlled by the activity of METHYLTRANSFERASE1 maintenance DNA methyltransferase and DEMETER DNA glycosylase."

Also in PLoS Genetics, investigators at Vanderbilt University and their colleagues show that ADAMTS10As is a candidate gene for primary open angle glaucoma in a canine model. The team sequenced the Beagle primary open angle glaucoma "locus [which] is syntenic to a previously mapped human quantitative trait locus for intraocular pressure on human chromosome 19." The team sequenced the canine locus and found more than 2,600 disease-associated SNPs, of which 54 were in exons. Of those, the team says that "the Gly661Arg variant in ADAMTS10 found in the [primary open angle glaucoma] Beagles suggests that altered processing of extracellular matrix and/or defects in microfibril structure or function may be involved in raising intraocular pressure, offering specific biochemical targets for future research and treatment strategies."

Researchers at the Medical College of Wisconsin use a zebrafish model to show that Lrp2, formerly known as Megalin, plays a role in "myopia and other risk factors for glaucoma in humans." Lrp2-mutant fish generally show high inner-ocular pressure and myopia as they age, the authors write, suggesting that these animals may be a useful "new genetic model for further study of phenotypes associated with this disease."

The Scan

Drug Response Variants May Be Distinct in Somatic, Germline Samples

Based on variants from across 21 drug response genes, researchers in The Pharmacogenomics Journal suspect that tumor-only DNA sequences may miss drug response clues found in the germline.

Breast Cancer Risk Gene Candidates Found by Multi-Ancestry Low-Frequency Variant Analysis

Researchers narrowed in on new and known risk gene candidates with variant profiles for almost 83,500 individuals with breast cancer and 59,199 unaffected controls in Genome Medicine.

Health-Related Quality of Life Gets Boost After Microbiome-Based Treatment for Recurrent C. Diff

A secondary analysis of Phase 3 clinical trial data in JAMA Network Open suggests an investigational oral microbiome-based drug may lead to enhanced quality of life measures.

Study Follows Consequences of Early Confirmatory Trials for Accelerated Approval Indications

Time to traditional approval or withdrawal was shorter when confirmatory trials started prior to accelerated approval, though overall regulatory outcomes remained similar, a JAMA study finds.