In this week's Science, a team from Lawrence Berkeley National Laboratory reports on the genetic factors that influence the shape of the human face and skull. Looking to expand upon previous studies in mammals that showed that transcriptional enhancers influence the shape of different body structures, the researchers combined epigenomic profiling, in vivo characterization of candidate enhancer sequences in transgenic mice, and targeted deletion experiments to better understand the role of distant-acting enhancers in craniofacial development. They found "complex regulatory landscapes consisting of enhancers that drive spatially complex developmental expression patterns" and help define face shape and skull morphology, all of which suggests that enhancer sequence variation contributes to the diversity of human facial morphology.
Meanwhile, in Science Translational Medicine, researchers from the Stanford School of Medicine publish data revealing a remarkable level of diversity among natural killer T cells, both between individuals and within an individual. Using mass cytometry, they looked at these cells in five sets of monozygotic twins, as well as in twelve unrelated donors, and discovered an estimated 6,000 to 30,000 phenotypic populations within an individual and more than 100,000 phenotypes in the donor panel. In the twins, genetics were found to influence inhibitory receptor expression, while the environment influences the expression of activating receptors. Overall, the findings point to the possibility of discrete natural killer cell subpopulations that could potentially be harnessed for immunotherapeutic strategies.