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This Week in Science: Apr 17, 2009

In early online, scientists have found that transposases play a role in one large eukaryotic genome. Studying the protozoan Oxytricha trifallax, which gets rid of 95 percent of its germline genome during development, they found that transposase genes play a key role in this process. "Transposase gene expression occurs during germline-soma differentiation and ... silencing of transposase by RNAi leads to abnormal DNA rearrangement in the offspring," they say in the abstract.

There are a couple of news stories on the Recovery Act, one looking at the flood of new applications from researchers hoping to get a piece of the NIH's additional $8.2 billion, and another checking into how the NSF is using the $2 billion it got to fund proposals already in the pipeline.

Cambridge scientists teamed up with 454 to resequence exons and splice sites of 10 candidate genes from 480 patients with type 1 diabetes and 480 controls. They found four rare variants that lowered type 1 diabetes risk in IFIH1 (interferon induced with helicase C domain 1), a gene located in a region previously associated with type 1 diabetes and linked to antiviral response.

In work led by Elliott Margulies, researchers found that local DNA sequence can effect its structure enough to alter the binding patterns, and evolution, of transcription factors. Using an algorithm to measure constraint, they discovered that 12 percent of bases are evolutionarily constrained, which is twice that detected by nucleotide sequence-based algorithms. These regions correlated with functional noncoding elements, suggesting that "the molecular shape of DNA is under selection and can identify evolutionary history."

The Scan

Study Finds Few FDA Post-Market Regulatory Actions Backed by Research, Public Assessments

A Yale University-led team examines in The BMJ safety signals from the US FDA Adverse Event Reporting System and whether they led to regulatory action.

Duke University Team Develops Programmable RNA Tool for Cell Editing

Researchers have developed an RNA-based editing tool that can target specific cells, as they describe in Nature.

Novel Gene Editing Approach for Treating Cystic Fibrosis

Researchers in Science Advances report on their development of a non-nuclease-based gene editing approach they hope to apply to treat cystic fibrosis.

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.