Here, seeking to better understand the genetic associations underlying non-small cell lung cancer, the authors screened hundreds of genes, identifying that KCNMB2 upregulation was significantly correlated with poor prognoses in lung cancer patients. Based on this, they used small interfering RNA to decrease the expression of KCNMB2 in A549 lung cancer cells, finding decreased cell proliferation and increased lung cancer cell death. They suggest this could lead to a new potential target for lung cancer therapies.
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.
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.
Arabadopsis, “the fruit fly of plants”, is an easy to grow plant system for genetic manipulation. Here, researchers tested the effects of varied light conditions on plants with specific mutations in the light sensing pathways.
In this article the authors address the complex and life quality-diminishing neurodegenerative disease known as Parkinson's. Although genetic and/or environmental factors contribute to the etiology of the disease, the diagnostic symptoms are the same. By genetically modifying fruit flies to exhibit symptoms of Parkinson's disease, they investigate whether drugs that inhibit mitochondrial calcium uptake or activate the lysosomal degradation of proteins could improve the symptoms of Parkinson's these flies exhibit. The authors report the most promising outcome to be that when both types of drugs were used together. Their data provides encouraging evidence to support further investigation of the utility of such drugs in the treatment of human Parkinson's patients.
Although the United States maintains millions of square kilometers of nature reserves to protect the biodiversity of the specimens living there, little is known about how confining these species within designated protected lands influences the genetic variation required for a healthy population. In this study, the authors sequenced genetic barcodes of insects from a recently established nature reserve, the Southwestern Riverside County Multi-Species Reserve (SWRCMSR), and a non-protected area, the Mt. San Jacinto College (MSJC) Menifee campus, to compare the genetic variation between the two populations. Their results demonstrated that the midge fly population from the SWRCMSR had fewer unique DNA barcode sequence changes than the MSJC population, indicating that the comparatively younger nature reserve's population had likely not yet established its own unique genetic drift changes.
Many species of trees are distributed widely around the world, though not always in a way that makes immediate sense. The authors here use genetic information to help explain the geographic distribution of various conifer species throughout the world.
Wolbachia pipientis (Wolbachia) is a maternally inherited endosymbiotic bacterium that infects over 50% of arthropods, including pillbugs, and acts as a reproductive parasite in the host. In the common terrestrial pillbug Armadillidium vulgare (A. vulgare), Wolbachia alters the sex ratio of offspring through a phenomenon called feminization, where genetic males develop into reproductive females. Previous studies have focused on the presence or absence of Wolbachia as a sex ratio distorter in laboratory cultured and natural populations mainly from sites in Europe and Japan. Our three-year study is the first to evaluate the effects of the Wolbachia sex ratio distorter in cultured A. vulgare offspring in North America. We asked whether Wolbachia bacteria feminize A. vulgare isopod male offspring from infected mothers and if this effect can be detected in F1 offspring by comparing the male/female offspring ratios. If so, the F1 offspring ratio should show a higher number of females than males compared to the offspring of uninfected mothers. Over three years, pillbug offspring were cultured from pregnant A. vulgare females and developed into adults. We determined the Wolbachia status of mothers and counted the ratios of male and female F1 progeny to determine feminization effects. In each year sampled, significantly more female offspring were born to Wolbachia-infected mothers than those from uninfected mothers. These ratio differences suggest that the Wolbachia infection status of mothers directly impacts the A. vulgare population through the production of reproductive feminized males, which in turn provides an advantage for further Wolbachia transmission.
Breast cancer is the most common cancer in women, with approximately 300,000 diagnosed with breast cancer in 2023. It ranks second in cancer-related deaths for women, after lung cancer with nearly 50,000 deaths. Scientists have identified important genetic mutations in genes like BRCA1 and BRCA2 that lead to the development of breast cancer, but previous studies were limited as they focused on specific populations. To overcome limitations, diverse populations and powerful statistical methods like genome-wide association studies and whole-genome sequencing are needed. Explainable artificial intelligence (XAI) can be used in oncology and breast cancer research to overcome these limitations of specificity as it can analyze datasets of diagnosed patients by providing interpretable explanations for identified patterns and predictions. This project aims to achieve technological and medicinal goals by using advanced algorithms to identify breast cancer subtypes for faster diagnoses. Multiple methods were utilized to develop an efficient algorithm. We hypothesized that an XAI approach would be best as it can assign scores to genes, specifically with a 90% success rate. To test that, we ran multiple trials utilizing XAI methods through the identification of class-specific and patient-specific key genes. We found that the study demonstrated a pipeline that combines multiple XAI techniques to identify potential biomarker genes for breast cancer with a 95% success rate.
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.