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.
This article explores the largely unstudied impact of noise pollution on plant life. By exposing Arabidopsis thaliana seedlings to urban traffic noise, the study found a significant increase in seedling growth, alongside substantial changes in gene expression. This research reveals critical insights into how noise pollution affects plant physiology and contributes to a broader understanding of its ecological impacts, helping to guide future efforts in ecosystem conservation.
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.
This article investigates differences in gene expression in the brains of patients with and without Parkinson's disease. The authors identify a crucial transcriptional regulator may be a relevant target for future therapeutic treatment for Parkinson's disease.
In this study, the authors analyze gene expression datasets to determine if there is a core set of genes dysregulated during nonalcoholic steatohepatitis.
Cellular senescence plays a key role in aging cells and is attributed to a number of disease and pathology. These authors find that genetic editing of both RPS6KB1 and PPARGC1A revitalizes a human skin fibroblast cell line.
In this study, Imani et al. investigate whether a new proprietary herbal formulation, HF1, can inhibit expression of immune suppressor protein PD-L1. PD-L1 is a transmembrane protein that can be expressed by cancer cells to assist in their ability to avoid attacks from the immune system. Work from this study demonstrates that HF1 treatment can reduce expression of PD-L1 in cultured cancer cells, implicating HF1 as a potential new cancer therapy.
Here the authors investigated the natural recovery of stress-induced dopamine-related gene deficits in C. elegans by measuring the expression of cat-2 (dopamine biosynthesis) and sod-2 (oxidative stress) following exposure to starvation or hydrocortisone. They found that the reversibility of sod-2 and the expression of cat-2 were highly dependent on the type and severity of the stressor, suggesting that the body's natural ability to recover from dopamine dysfunction has biological limitations.
Major Depressive Disorder (MDD), and Post-Traumatic Stress Disorder (PTSD) are two of the fastest growing comorbid diseases in the world. Using publicly available datasets from the National Institute for Biotechnology Information (NCBI), Ravi and Lee conducted a differential gene expression analysis using 184 blood samples from either control individuals or individuals with comorbid MDD and PTSD. As a result, the authors identified 253 highly differentially-expressed genes, with enrichment for proteins in the gene ontology group 'Ribosomal Pathway'. These genes may be used as blood-based biomarkers for susceptibility to MDD or PTSD, and to tailor treatments within a personalized medicine regime.