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Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene. In this paper, the authors attempt to identify variations in stretches of up to 8 nucleotides in the protein-coding portions of the CFTR gene that are associated with disease development. This would allow screening of newborns or even fetuses in utero to determine the likelihood they develop cystic fibrosis.

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.

Alzheimer's disease (AD) involves the reduction of cholinergic activity due to a decrease in neuronal levels of nAChR α7. In this work, Sanyal and Cuellar-Ortiz explore the role of the nAChR α7 in learning and memory retention, using Drosophila melanogaster as a model organism. The performance of mutant flies (PΔEY6) was analyzed in locomotive and olfactory-memory retention tests in comparison to wild type (WT) flies and an Alzheimer's disease model Arc-42 (Aβ-42). Their results suggest that the lack of the D. melanogaster-nAChR causes learning, memory, and locomotion impairments, similar to those observed in Alzheimer's models Arc-42.

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.

Given an association between nicotine addiction and gene expression, we hypothesized that expression of genes commonly associated with smoking status would have variable expression between smokers and non-smokers. To test whether gene expression varies between smokers and non-smokers, we analyzed two publicly-available datasets that profiled RNA gene expression from brain (nucleus accumbens) and lung tissue taken from patients identified as smokers or non-smokers. We discovered statistically significant differences in expression of dozens of genes between smokers and non-smokers. To test whether gene expression can be used to predict whether a patient is a smoker or non-smoker, we used gene expression as the training data for a logistic regression or random forest classification model. The random forest classifier trained on lung tissue data showed the most robust results, with area under curve (AUC) values consistently between 0.82 and 0.93. Both models trained on nucleus accumbens data had poorer performance, with AUC values consistently between 0.65 and 0.7 when using random forest. These results suggest gene expression can be used to predict smoking status using traditional machine learning models. Additionally, based on our random forest model, we proposed KCNJ3 and TXLNGY as two candidate markers of smoking status. These findings, coupled with other genes identified in this study, present promising avenues for advancing applications related to the genetic foundation of smoking-related characteristics.

Sequence accessibility is an important factor affecting gene expression. Sequence accessibility or openness impacts the likelihood that a gene is transcribed and translated into a protein and performs functions and manifests traits. There are many potential factors that affect the accessibility of a gene. In this study, our hypothesis was that the content of nucleotides in a genetic sequence predicts its accessibility. Using a machine learning linear regression model, we studied the relationship between nucleotide content and accessibility.

In this study, the authors analyze gene expression datasets to determine if there is a core set of genes dysregulated during nonalcoholic steatohepatitis.

In an extensive study of gene mutations, and their resulting effect on protein-protein interactions, Desai and Stork found that HTT-PRPF40B-MECP2 interactions are weakened with progression of Lopes-Maciel-Rodan syndrome.

Pancreatic ductal adenocarcinoma (PDAC) is the most common form of pancreatic cancer, with early diagnosis and treatment challenges. When any of the genes KRAS, SMAD4, TP53, and BRCA2 are heavily mutated, they correlate with PDAC progression. Cellular stress, partly regulated by the gene SERPINA6, also correlates with PDAC progression. When SERPINA6 is highly expressed, corticosteroid-binding globulin inhibits the effect of the stress hormone cortisol. In this study, the authors explored whether there is an inverse correlation between the expression of SERPINA6 and PDAC-linked genes.