In PLOS Genetics, researchers from the US and Iran describe a new gene with ties to ocular coloboma, an embryonic development disorder previously linked to several genetic glitches. The team did whole-exome sequencing on two cousins affected by ocular coloboma in combination with other skeletal and eye symptoms, including microcornea and cataracts. When they analyzed these protein-coding sequencing, the investigators did not see mutations in known ocular coloboma contributors. But they did see the same rare, missense mutation in MAB21L2 in both cousins. The gene's apparent role in this disease was further verified through testing on other affected family members, along with functional experiments in zebrafish.
A PLOS One study looks at the gene expression profiles associated with T-cell sub-populations present in brown adipose tissue. German researchers used microarrays and real-time PCR to assess gene expression in sorted regulatory T-cells from brown adipose tissue from female mice. Their results suggest that the brown adipose tissue contains a subset of regulatory T-cells not described in other tissues tested. "Given the therapeutic potential of [brown adipose tissue] activation for conditions of metabolic dysfunction," the authors write, "the modulatory role of [brown adipose tissue]-associated [T regulatory cells] may now provide clues for novel [brown adipose tissue]-based therapies in obesity and type 2 diabetes."
A team from Cornell University and Sage Bionetworks introduces a statistical model called "Sparse Eigengene Network," or SPINE, for interrogating gene expression networks for microbes involved in bioremediation. As they reported in another PLOS One study, the researchers used SPINE to track the transcriptional consequences of chemically perturbing environmental networks of Dehalococcoides mccartyi. "Based on the model predictions, we discovered new response mechanisms for [Dehalococcoides mccartyi]," study authors say, "notably when the bacterium is exposed to solvent toxicity."