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This Week in Science: May 21, 2010

In a Science paper published online in advance, Daniel Gibson and colleagues at the J. Craig Venter Institute report their assembly of the synthetic 1.08Mbp Mycoplasma mycoides JCVI-syn1.0 genome and its transplantation into Mycoplasma capricolum recipient cells — which are, in turn, driven by the synthetic DNA sequence and capable of continuous self-replication. "The only DNA in the cells is the designed synthetic DNA sequence, including 'watermark' sequences and other designed gene deletions and polymorphisms, and mutations acquired during the building process," the authors write. The watermark sequences, which encoded multiple stop codons, allowed the team to deduce that their DNA sequence was entirely synthetic, Venter said during a press conference.

The Human Microbiome Project Jumpstart Reference Strains Consortium reports the results of their initial reference genome sequencing of 178 microbial genomes. "From 547,968 predicted polypeptides that correspond to the gene complement of these strains, previously unidentified — 'novel' — polypeptides that had both unmasked sequence length greater than 100 amino acids and no BLASTP match to any non-reference entry in the non-redundant subset were defined," the authors write. The Human Microbiome Project group's analysis resulted in a set of 30,867, of which nearly 97 percent were unique. The team also presents the associated metrics and standards they used for quality assurance purposes.

An international research team reports their elucidation of a "global protein kinase and phosphatase interaction network in yeast," via mass spec analysis of protein complexes. The researchers identified 1,844 interactions in the KPI network, some of which suggested new functions. "Notably, the cell cycle phosphatase Cdc14 associated with multiple kinases that revealed roles for Cdc14 in mitogen-activated protein kinase signaling, the DNA damage response, and metabolism, whereas interactions of the target of rapamycin complex 1uncovered new effector kinases in nitrogen and carbon metabolism," the authors write.

Gerasimos Sykiotis of the Harvard Reproductive Endocrine Sciences Center at Massachusetts General Hospital and his colleagues pen a review in Science Translational Medicine this week which examines GnRH deficiency as a model for "deciphering genetic disease in the genomic era." As sequencing technologies, as well as those for homozygosity mapping and structural variation detection, advance, the authors write, "human investigations are again assuming the leading role for gene discovery." In examining human GnRH deficiency as an example, the authors "discuss the emerging model of patient-focused clinical genetic research and its complementarities with basic approaches in the near future."

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.