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This Week in Nature: Jun 14, 2013

In this week’s Nature, researchers from California State University reported the reference genome of the marine phytoplankton Emiliania huxleyi — an ecologically important species given its impact on the global carbon cycle, driving either CO2 production or uptake, sequestration, and export to the deep ocean. The investigators’ analysis of different E. huxleyi strains revealed a pan genome composed of a set of core genes, along with genes that were unequally distributed between different strains. The findings indicate “extensive genome variability reflected in different metabolic repertoires,” which contributes to the species ability to thrive in very different habitats and environmental conditions.

Also in Nature, a multi-institute team led by Yale investigators published data implicating de novo point mutations in congenital heart disease, or CHD. They compared the incidence of such mutations in 362 several CHD cases and 264 controls by analyzing exome sequencing of parent-offspring trios. The CHD patients showed a “significant excess of protein-altering de novo mutations in genes expressed in the developing heart,” particularly genes involved in the production, removal, or reading of histone 3 lysine 4 methylation, or ubiquitination of H2BK120, which is required for H3K4 methylation. Collectively, they found that de novo point mutations contribute to about 10 percent of severe CHD cases.