In this study, the authors observe if the symptoms of Rett Syndrome, a neurodegenerative disease in humans, are reflected in Drosophila melanogaster. This was achieved by differentiating the behavior and physical aspects of wild-type flies from flies expressing the full-length MeCP2 gene and the mutated MeCP2 gene (R106W). After conducting these experiments, some of the Rett Syndrome symptoms were recapitulated in Drosophila, and a subset of those were partially ameliorated by the introduction of pifithrin-alpha.
Genetically modified organisms (GMOs) are crops or animals that have been genetically engineered to express a certain physical or biological characteristic and have various benefits that have made them become increasingly popular. However, the public has had mixed reactions to the use of GMOs, with some skeptical of their safety. The purpose of this study was to evaluate how opinions on genetically modified foods can change from exposure to small amounts of information
Recent declines in the brook trout population of the Lake Champlain Basin have made the genetic screening of this and other trout species of utmost importance. In this study, the authors collected and analyzed 21 DNA samples from Lake Champlain Basin trout populations and performed a phylogenetic analysis on these samples using the cytochrome b gene. The findings presented in this study may influence future habitat decisions in this region.
Human cytomegalovirus (HCMV) causes serious infections in immunocompromised patients and therapies to inhibit latent HCMV are not developed. Using CRISPR/Cas9, the authors were able to delete an important promoter region in HCMV.
Caenorhabditis elegans xpa-1 and him-1 are orthologs of human XPA and human SMC1A, respectively. Mutations in the XPA are correlated with Xeroderma pigmentosum, a condition that induces hypersensitivity to ultraviolet (UV) radiation. Alternatively, SMC1A mutations may lead to Cornelia de Lange Syndrome, a multi-organ disorder that makes patients more sensitive to UVinduced DNA damage. Both C. elegans genes have been found to be involved in protection against UV radiation, but their combined effects have not been tested when they are both knocked down. The authors hypothesized that because these genes are involved in separate pathways, the simultaneous knockdown of both of these genes using RNA interference (RNAi) in C. elegans will cause them to become more sensitive to UV radiation than either of them knocked down individually. UV protection was measured via the percent survival of C. elegans post 365 nm and 5.4x10-19 joules of UV radiation. The double xpa-1/him-1 RNAi knockdown showed a significantly reduced percent survival after 15 and 30 minutes of UV radiation relative to wild-type and xpa-1 and him-1 single knockdowns. These measurements were consistent with their hypothesis and demonstrated that xpa-1 and him-1 genes play distinct roles in resistance against UV stress in C. elegans. This result raises the possibility that the xpa-1/him-1 double knockdown could be useful as an animal model for studying the human disease Xeroderma pigmentosum and Cornelia de Lange Syndrome.
Human intelligence is correlated with variation in the protein neuroplastin-65, which is encoded by the NPTN gene. The authors examine the evolution of this gene across different animal species.
Alzheimer's disease is one of the leading causes of death in the United States and is characterized by neurodegeneration. Mishra et al. wanted to understand the role of two transport proteins, LRP1 and AQP4, in the neurodegeneration of Alzheimer's disease. They used a model organism for Alzheimer's disease, the nematode C. elegans, and genetic engineering to look at whether they would see a decrease in neurodegeneration if they increased the amount of these two transport proteins. They found that the best improvements were caused by increased expression of both transport proteins, with smaller improvements when just one of the proteins is overly expressed. Their work has important implications for how we understand neurodegeneration in Alzheimer's disease and what we can do to slow or prevent the progression of the disease.
Van der Woude syndrome is a common birth defect caused by mutations in the gene Irf6. In this project, students used microarray expression analysis from wild-type and Irf6-deficient mice in order to identify gene networks or pathways differentially regulated due to the Irf6 mutation. They found NF-κB pathway to be activated in deficient mice.
In this study, the authors analyze gene expression datasets to determine if there is a core set of genes dysregulated during nonalcoholic steatohepatitis.
The authors investigate whether human blood cancers carrying mutations in DNA repair genes possess increased sensitivity to common chemotherapy drugs cisplatin or gemcitabine.
