Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
This Week in PNAS
In a paper published online in advance in PNAS this week, an international team led by investigators at the Broad Institute reports on its "discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma by whole-exome sequencing." Using this technique, the team sequenced 55 primary tumor samples from DLBCL patients and their matched normal tissue, finding recurrent mutations in genes known to be functionally relevant in the disease and somatic mutations in genes for which a functional role in DLBCL was not previously suspected, including MEF2B, MLL2, BTG1, GNA13, ACTB, P2RY8, PCLO, and TNFRSF14.
Researchers at Yale University and at the University of Illinois at Chicago report on the structural basis for the recognition of completely divergent anticodon loops of natural isoacceptor tRNAs by a single aminoacyl-tRNA synthetases in Saccharomyces cerevisiae. The team says such recognition "facilitates the reassignment of the genetic code in yeast mitochondria."
Elsewhere in the PNAS Early Edition, researchers at the University of California, San Diego, and their colleagues report on an "association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans." The UCSD-led team identifies SNPs that it says contribute "to the proportional area of human visual cortex."