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."