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.
This study sought to determine if there is an association between the single nucleotide polymorphism rs7528684 of the Fc receptor-like-3 (FCRL3) gene and asthma or allergic rhinitis (AR). Based on previous studies in an Asian population, we hypothesized that participants with an AA genotype of FCRL3 would be more likely to have asthma and/or allergic rhinitis. To test the hypothesis, surveys were administered to participants, and genotyping was performed on spit samples via PCR, restriction digest, and gel electrophoresis.
Wang and Gong developed a novel dynamic gene-searching algorithm called Dynamic Gene Search (DyGS) to create a gene panel for each of the 12 cancers with the highest annual incidence and death rate. The 12 gene panels the DyGS algorithm selected used only 3.5% of the original gene mutation pool, while covering every patient sample. About 40% of each gene panel is druggable, which indicates that the DyGS-generated gene panels can be used for early cancer detection as well as therapeutic targets in treatment methods.
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.
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.
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.
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.
The goal of this project was to assess the relationships among low myopia, behavioral and demographic factors, and a single-nucleotide polymorphism (SNP) in the TGFβ1 gene.
Cutibacterium acnes is a bacterium believed to play an important role in the pathogenesis of common skin diseases such as acne vulgaris. Currently, acne is known to be associated with strains from the type IA1 and IC clades of C. acnes, while those from the type IA2, IB, II, and III phylogroups are associated with skin health. This is the first study to explore the sequence space of individual gene products of different C. acnes phylogroups. Our analysis compared the sequence space topology of virulence factors to proteins with unknown functions and housekeeping proteins. We hypothesized that sequence space features of virulence factors are different from housekeeping protein features, which potentially provides an avenue to deduce unknown proteins’ functions. This proposition should be confirmed based on further experimental outcomes. A notable similarity in the sequence spaces’ topological features of previously known as housekeeping proteins encoded by recA and guaA genes to ‘putative virulence’ genes camp2 and tly was observed. Our research suggests further investigation of recA and guaA’s potential virulence properties to better understand acne pathogenesis and develop more targeted acne treatments.
