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This Week in PNAS : Feb 21, 2012

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."

The Scan

Fertility Fraud Found

Consumer genetic testing has uncovered cases of fertility fraud that are leading to lawsuits, according to USA Today.

Ties Between Vigorous Exercise, ALS in Genetically At-Risk People

Regular strenuous exercise could contribute to motor neuron disease development among those already at genetic risk, Sky News reports.

Test Warning

The Guardian writes that the US regulators have warned against using a rapid COVID-19 test that is a key part of mass testing in the UK.

Science Papers Examine Feedback Mechanism Affecting Xist, Continuous Health Monitoring for Precision Medicine

In Science this week: analysis of cis confinement of the X-inactive specific transcript, and more.