International Genetics and Genomics of Diseases

Prominence of Microbiota to Predict Fibrous Stenosis in Crohn’s Disease Purpose Intestinal fibrous stenosis due to Crohn’s disease (CD) is highly prevalent. Although several clinical risk factors for fibrous stenosis have been identified, such as perianal fistulizing disease, small bowel disease location, and deep mucosal ulceration, predicting fibrous stenosis remains challenging. The intestinal microbiota plays a crucial role in the development and progression of CD. However, its role in intestinal fibrous stenosis is poorly understood. Leveraging a single-center cross-sectional study, we aimed to investigate the role of fecal microbiota in CD-associated fibrous stenosis. Methods Using metagenomic analysis, we examined the differences in fecal microbiota between CD patients with intestinal fibrous stenosis and those without stenosis. We identified specific microbiota and assessed their predictive accuracy for intestinal fibrous stenosis. Additionally, we explored functional differenc...

Comprehensive Analysis of Potential Common Pathogenic Mechanisms for COVID-19 Infection and Gastric Cancer A growing body of data suggests that the prevalence of COVID-19 pneumonia in patients with stomach cancer is much higher than in the general population. However, these mechanisms are still not fully understood. After a thorough examination of shared differentially expressed genes (DEGs) for gastric cancer (GC) and COVID-19 pneumonia, we performed functional annotation, protein–protein interaction (PPI) networks, module design, and pivot gene identification. qPCR was used to verify the expression of hub genes in GC. Finally, a pivotal gene transcription factor-gene regulatory network was created and validated. According to functional enrichment analysis, common genes are mainly enriched in biological processes such as extracellular matrix tissue and extracellular structural tissue. Finally, five genes were found to be pivotal genes in the pathogenesis of GC and COVID-19 pneumonia: ...

Genome-Wide Analysis of the APETALA2/Ethylene-Responsive Factor Gene Family in Carthamus tinctorius L. The APETALA2/ethylene-responsive factor (AP2/ERF) superfamily represents a class of transcription factors involved in plant growth, development, and stress responses. Carthamus tinctorius L., also known as safflower, is an important plant whose flowers contain carthamin, an expensive aromatic pigment with various medicinal and flavoring properties. This study aimed to elucidate the roles of these transcription factors in plant growth, metabolic regulation, and environmental adaptation in safflower, providing foundational information and theoretical support for genetic improvement and stress resilience research in this crop. In this study, we identified and characterized the AP2/ERF family genes in safflower through a comprehensive genomic analysis. A total of 127 AP2/ERF genes were identified and clustered into seven groups and 14 subgroups based on phylogenetic analysis. Multiple seq...

A novel model of central precocious puberty disease: Paternal MKRN3 gene–modified rabbit Background Makorin ring finger protein 3 gene (MKRN3) gene mutation is the most common genetic cause of central precocious puberty (CPP) in children. Due to the lack of ideal MKRN3-modified animal model (MKRN3-modified mice enter puberty only 4–5 days earlier than normal mice), the related research is limited. Methods Therefore, the MKRN3-modified rabbit was developed using CRISPR (clustered regularly interspaced short palindromic repeats) gene editing technology. The genotype identification and phenotype evaluation of MKRN3-modified rabbits were carried out. Results The first estrus of MKRN3-modified female rabbits was observed ~27 days earlier than that of wild-type female rabbits, with a typical CPP phenotype. This study found increased gonadotropin releasing hormone (GnRH) and decreased gonadotropin inhibiting hormone (GnIH) in the hypothalamus of the CPP rabbit model with MKRN3 gene mutation....

Engineered Extracellular Vesicles Could Deliver Gene Editors, Therapeutic Proteins to Cells New research from scientists at the Karolinska Institutet in Sweden and their collaborators elsewhere describes a way of improving extracellular vesicles’ ability to transport things like therapeutic proteins and gene editors into cells. Specifically, their approach involves adding a small part of a bacterial protein called an intein and a fusogenic protein from a virus to the vesicles. Full details are provided in a new Nature Communications paper titled, “ Engineering of extracellular vesicles for efficient intracellular delivery of multimodal therapeutics including genome editors. ” In the paper, the researchers explain that their work offers solutions to the “major bottlenecks of EV-mediated delivery of protein therapeutics, the enrichment of liberated active cargo into EVs, and their subsequent endosomal escape in recipient cells.” The added fusogenic protein, vesicular stomatitis virus G g...

SsMet1 is a Critical Gene in Methionine Biosynthesis in Sclerotinia sclerotiorum Methionine, a key sulfur-containing amino acid, is involved in various important functions in cellular metabolism. Genes that encode enzymes to catalyze steps of the methionine biosynthesis pathway are essential for survival of fungi. The SsMet1 (SS1G_11000) gene in Sclerotinia sclerotiorum is an orthologue of BcStr2, a gene characterized in Botrytis cinerea that plays a key role in methionine biosynthesis. In this study, we characterized SsMet1 in S. sclerotiorum by creating SsMet1-deletion mutants, Met1-2 and Met1-4, using a split marker technique. The SsMet1-deletion mutants were unable to grow on minimal medium and did not produce sclerotia. Supplementation with methionine and homocysteine rescued the defects in mycelial growth, but not sclerotia development of the SsMet1-deletion mutants. These results indicate that SsMet1-deletion mutants are auxotrophic for methionine. In addition, the SsMet1-delet...

Pancreatic Cancer Treatment Outcome Predicted By Genetic Test A genetic tool developed in Japan allows clinicians to determine which patients may benefit the most from pancreatic cancer surgery to remove advanced tumors after first undergoing treatment to shrink the tumors. The tumor marker gene (TMG) model involves combining the patients’ genetics with that of their tumor and was able to differentiate between patients who did well after surgery and those who did not. The research team, led by Nagoya University, now wants to further develop the TMG model score they created and to validate it for potential wider use. “We found that the TMG model could more accurately identify which patients would really benefit from surgery. This could prevent some from undergoing unnecessary procedures and offer surgical opportunities to others who might have been overlooked,” said lead investigator Haruyoshi Tanaka from the Department of Surgery at Nagoya University Hospital in a press statement. ...