Genetic Insights Research Articles

Mutation of rice EARLY LEAF LESION AND SENESCENCE 1(ELS1), which encodes an anthranilate synthase α-subunit, induces ROS accumulation and cell death through activating the tryptophan synthesis pathway in rice.

Lesion-mimic mutants (LMMs) serve as valuable resources for uncovering the molecular mechanisms that govern programmed cell death (PCD) in plants. Despite extensive research, the regulatory mechanisms of PCD and lesion formation in various LMMs remain to be fully elucidated. In this study, we identified a rice LMM named early leaf lesion and senescence 1 (els1), cloned the causal gene through map-based cloning, and confirmed its function through complementation. ELS1 encodes an anthranilate synthase α-subunit involved in anthranilate biosynthesis. It is predominantly localized in chloroplasts and is primarily expressed in light-exposed tissues. Mutation of ELS1 triggers upregulation of its homologous gene, ASA1, via a genetic compensation response, leading to the activation of the tryptophan (Trp) synthesis pathway and amino acid metabolism. The accumulation of abnormal Trp-derived intermediate metabolites results in reactive oxygen species (ROS) production and abnormal PCD in the els1 mutant, ultimately causing the leaf lesion phenotype. The els1 mutant also exhibits reduced chlorophyll content, upregulation of genes related to chloroplast degradation and leaf senescence, and decreased activity of photosynthetic proteins, indicating that ELS1 plays a role in chloroplast development. These factors collectively contribute to the premature leaf senescence observed in the els1 mutant. Our findings shed light on the role of ELS1 in regulating ROS accumulation and PCD in rice, providing further genetic insights into the molecular mechanisms governing leaf lesions and senescence.

Genetic and biological insights into Hydatigera taeniaeformis in invasive black rats from southern Chile

IntroductionThis study investigates the genetic variability of Hydatigera taeniaeformis in black rats (Rattus rattus), a common tapeworm that infects cats and rodents worldwide. Despite its widespread presence and zoonotic potential, little is known about the genetic diversity of this parasite in the Americas.MethodsWe conducted DNA barcoding analysis using mitochondrial cox1 gene sequences using samples collected from 171 invasive wild black rats, captured in the temperate rainforest of Southern Chile. We also included two adult parasites isolated from road killed Kodkods (Leopardus guigna), a small felid species native to the Americas.ResultsOur findings revealed only two haplotypes, suggesting low genetic variability in a parasite that arrived in the Americas with the Spanish colonization.DiscussionThese haplotypes are more closely related to parasite populations from Peru, Africa, Australia, and Europe, suggesting an origin linked to the Spanish colonization, possibly from North Africa via the Canary Islands. The study also analyzed infection rates, parasite size, and their correlation with host body size, age, and weight, revealing significant patterns. These results provide new insights into the biogeography and genetic diversity of H. taeniaeformis in a new geographical area, enhancing our understanding of its evolutionary history.

Integrating Genetic Insights, Technological Advancements, Screening, and Personalized Pharmacological Interventions in Childhood Obesity.

Childhood obesity is a significant global health challenge with rising prevalence over the past 50years, affecting both immediate and long-term health outcomes. The increase in prevalence from 0.7% to 5.6% in girls and 0.9% to 7.8% in boys highlights the urgency of addressing this epidemic. By 2025, it is estimated that 206million children and adolescents aged 5-19years will be living with obesity. This review explores the complex interplay of genomics and genetics in pediatric obesity, transitioning from monogenic and polygenic obesity to epigenetics, and incorporating advancements in omics technologies. The evolutionary purpose of adiposity, systemic evaluation of hyperphagia, and the role of various genetic factors are discussed. Technological advancements in genotyping offer new insights and interventions. The integration of genetic screening into clinical practice for early identification and personalized treatment strategies is emphasized.

Abstract 4147640: Genetic Insights in Dilated Cardiomyopathy: SSPN as a Key Player

Background: Dilated cardiomyopathy (DCM) is a complex condition characterized by the dilation and impaired contraction of the left ventricle, which ultimately leads to heart failure. DCM has a multifactorial background, involving genetic, environmental, and infectious components. The genetic aspect of DCM is particularly significant, with numerous genes implicated in its pathogenesis. This study aims to identify differentially expressed genes (DEGs) involved in DCM, thereby contributing to the existing body of literature and facilitating further investigations into potential biomarkers and therapeutic targets for the disease. Methods: Data from the GSE1869, GSE3585, GSE4172, and GSE3586 datasets were obtained from the Gene Expression Omnibus (GEO) database. DEGs were identified using the GEO2R tool with an adjusted p-value cutoff of ≤0.05. Results: From the GSE1869 dataset, 3,692 DEGs were identified, alongside 691 DEGs from GSE4172, 889s DEG from GSE3586, and 95 DEGs from GSE3585. Intersection analysis revealed one mutual DEG across all four datasets: SSPN. SSPN, or sarcospan, is a component of the dystrophin-glycoprotein complex involved in stabilizing muscle cell membranes. As only one mutual DEG was identified, the findings suggest significant heterogeneity in gene expression profiles associated with DCM or potential limitations in the datasets. Conclusions: The identification of SSPN as a DEG associated with DCM provides valuable insights. Its expression in the heart has the potential to affect cardiac structural integrity and function. This gene holds promise as a potential biomarker that could inform the development of targeted therapies, highlighting its significance in the molecular mechanisms of the disease and warranting further investigation.

EPCO-01. FROM HIERARCHY TO GEOGRAPHY: MULTI-CLONES DRIVE THE CELLULAR DIVERSITY AND EVOLUTION OF HUMAN MEDULLOBLASTOMA

Abstract We’ve curated a comprehensive multi-omics database of medulloblastoma (MB) serving as a resource to understand spatiotemporal organization and guide therapeutic strategies. Herein, our analysis encompasses single-nucleus transcriptome (n = 51), chromatin accessibility (n = 46), and spatial transcriptomic profiles (n = 31) from human MB samples and patient-derived xenograft lines spanning four subgroups, augmented by bulk RNA (n = 322), whole-genome short-sequencing (n = 279), and bisulfite sequencing (n = 300) from matched samples. We delineate the malignant cellular hierarchy, identifying MB cancer stem-like cells (MB-CSCs), cycling cells, and more differentiated populations. Gene signatures of different cell subpopulations strongly correlate to clinical outcomes, while spatial character of patient-derived materials emphasizes the geographically heterogeneous nature of MB. Examination of somatic copy number variants (CNVs) and transcriptional signatures at single-nucleus resolution reveals geographically defined subclones harboring distinct CNVs, suggesting a competitive agglomeration of co-existing multi-clones for MB. Alongside the trajectorial transition, we observe distinct chromosomal alterations in apical MB-CSCs compared to more differentiated cells, indicative of extensive subclone-primed spatiotemporal evolution. Further analysis of reagent-gene interactions of subclonal lineages contributes to predicting the druggable candidates for treatment optimization. Integration of spatial architecture data highlights the recapitulation of subclone-determined niches through colocation with identified malignant lineages and their own inflammatory or fibrotic adaptions. Taken together, this comprehensive database, comprising five or six kinds of datatypes on the same MB cases, facilitates combinatorial analyses across different genomic modalities, offering genetic and geographic insights into therapeutic advancements.

Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing

Thoracic aortic diseases (or aortopathies) result from complex interactions between genetic and hemodynamic factors. Often clinically silent, these diseases can lead to lethal complications such as aortic dissection or rupture. This study focused on a Brazilian cohort of 79 individuals with thoracic aortic diseases and explored genetic factors through targeted next-generation sequencing (tNGS) of 15 priority genes and FBN1 direct sequencing. The majority of individuals had nonsyndromic aortopathy, with eight diagnosed with Marfan syndrome (MFS). Pathogenic or likely pathogenic variants (PV/LPV) were found in five genes, namely, FBN1, ACTA2, TGFBR2, MYLK, and SMAD3. Notably, novel variants in FBN1 were identified that contributed to Marfan-like phenotypes. The diagnostic yield for isolated aortopathies was 7.1%, which increased to 55.5% for syndromic cases. Variants of uncertain significance (VUS) were identified, emphasizing the need for further research and familial investigations to refine variant classifications. This study provides valuable insights into the genetic landscape of aortopathies in Brazil, aiding early diagnosis and personalized management.

Genetic Insights into Congenital Cardiac Septal Defects—A Narrative Review

Congenital heart diseases (CHDs) are a group of complex diseases characterized by structural and functional malformations during development in the human heart; they represent an important problem for public health worldwide. Within these malformations, septal defects such as ventricular (VSD) and atrial septal defects (ASD) are the most common forms of CHDs. Studies have reported that CHDs are the result of genetic and environmental factors. Here, we review and summarize the role of genetics involved in cardiogenesis and congenital cardiac septal defects. Moreover, treatment regarding these congenital cardiac septal defects is also addressed.

Genetic diversity insights from population genomics and machine learning tools for Nordic Arctic charr (Salvelinus alpinus) populations

Arctic charr (Salvelinus alpinus) is a salmonid species of high ecological and commercial value in the Holarctic region. Nevertheless, more information is needed about its underlying genetic diversity and population structure in the Nordics, especially regarding farmed populations. High-throughput sequencing was applied in three Arctic charr populations of anadromous or landlocked origin from Finland, Norway and Sweden. More specifically, the animals from the Swedish and Norwegian populations originated from a major egg supplier and producer, respectively. Furthermore, in the case of the Finnish population, the sampled animals originated from the only active conservation program for Arctic charr in the country with a potential interest in farming. Using double-digest restriction site-associated DNA sequencing (ddRAD-seq) on more than 500 fish, over 2000 single nucleotide polymorphisms (SNPs), both in the form of individual SNPs and as read haplotypes, were used to study the genetic diversity and structure of those populations. Genetic diversity metrics were similar between the Norwegian and the Swedish populations. However, substantially lower (40–50 %) genetic diversity was found in the Finnish population. Moreover, considerable genetic differentiation was implied between the studied populations as the mean fixation index (FST) was above 0.1 in all pairwise comparisons. All populations were easily discernible through either principal component analysis (PCA) or discriminant analysis of principal components (DAPC). In addition, unsupervised machine learning models such as K-means, Gaussian and Bayesian Gaussian mixtures were assessed for their ability to detect genetic clusters. A preceding dimensionality reduction step by PCA resulted in all three models, suggesting that the most probable number of clusters was three. Overall, our study affirmed the utility of the developed ddRAD-seq genotyping method and unveiled the genetic structure of the studied populations, both of which could contribute to their more efficient management by captive breeding.

Genetic insights into litter size in goats: A meta-analysis of KISS1 and BMP15 SNP variants

Litter size is a key trait in livestock breeding. The BMP15 and KISS1 genes have been studied in goats, but results on their association with litter size are inconsistent. The objective of this study was to employ a meta-analysis approach to investigate the genetic relationship between the BMP15 (g.735 G>A) and KISS1 (g.2540 C>T and g.2510 G>A) genes and litter size in goats. A total of five studies (including 12 breeds) were included for the g.735 G>A mutation, three studies (including nine breeds) for g.2540 C>T, and two studies (including six breeds) for g.2510 G>A in this meta-analysis. The meta-analysis was conducted under four different genetic models: recessive (GG + AG vs. AA), dominant (GG vs. AG + AA), additive (GG vs. AA) and codominant (GG + AA vs. AG) models of inheritance. Data were analyzed under either random or fixed effects models based on the estimates of I2 estimates. A sensitivity analysis was performed by removing one study at a time to determine the stability of the overall results. Funnel plots and the Egger regression tests were also used to assess the publication bias among studies. Significant associations (P< 0.05) were observed between the g.2540 C>T and g.2510 G>A loci and litter size in goats under the additive (SMD = −0.469, 95 % CI = −0.908 to −0.030, P-value = 0.036) and codominant (SMD = 0.147, 95 % CI = 0.003–0.291, P = 0.046) genetic models, respectively. Our results did not identify any significant association between g.735 G>A of BMP15 and litter size under the investigated genetic models.

The Future of Artificial Intelligence and Genetic Insights in Precision Cardiovascular Medicine: A Comprehensive Review

Abstract A medical condition called cardiovascular disease (CVD) affects the heart or blood vessels, and about 40% of its causes can be attributed to genetic factors. The pathophysiology of CVD is still unknown despite numerous studies identifying important environmental and genetic factors. Genetic data research has significantly increased due to the application of genome-wide association studies. The utilization of artificial intelligence (AI) technology demonstrates clear advantages in managing intricate projects, outperforming traditional statistical methods in processing such data. The use of AI in the status of genetic research on CVD and medicine is briefly reviewed in the opening section of this article. Then, it gives a complete picture of how AI is used in genetic CVD research, including genetic data-driven diagnosis and prognosis, genetic variation analysis, gene expression profiles, gene interactions, and analysis of genes using knowledge bases. Even though much research has yielded significant findings, it is still early. The main disadvantages are database limitations, the underuse of AI in systematic biology analysis, and the lack of a theoretical framework for interpreting analysis results. The paper concludes with future directions and the significance of creating comprehensive, high-quality, large-sample-size data-sharing resources. Much research is going into how to use AI analysis techniques to help with development. Being creative with computers can help make new CVD intervention protocols and develop and test theoretical models.

Understanding Parkinson disease in Spain: Genetic and clinical insights.

Parkinson disease (PD) is a complex and heterogeneous neurodegenerative disorder with a broad spectrum of clinical manifestations, determined by a complex interplay of environmental and genetic factors. This study aimed to investigate genetic variants associated with PD and assess their impact on the disease phenotype through genotype-phenotype correlations. We employed a targeted resequencing panel to analyze 27 genes linked to PD in a cohort of 1185 PD patients from southern Spain. Variants were categorized based on the American College of Medical Genetics and Genomics pathogenicity criteria. Demographic and clinical data were also collected. Among the patients analyzed, 13.5% carried potential disease-causing pathogenic or likely pathogenic variants in 12 different genes, indicating significant genetic heterogeneity. The most frequently affected genes were LRRK2, PRKN, and GBA1 (accounting for 72.1% of positive cases). Sex-specific differences were observed, with a higher proportion of female patients carrying LRRK2 variants. Differences in age at onset and clinical features were also observed among the different mutated genes. Notably, variants in genes associated with atypical parkinsonism presented distinct clinical presentations, highlighting the importance of genetic factors in the differential diagnosis. Our study provides valuable information on the genetic landscape of PD and its clinical manifestations. The observed genotype-phenotype correlations, along with sex-specific differences, emphasize the complexity of PD pathogenesis, underlining the importance of personalized approaches to PD diagnosis and treatment. Further investigations into genetic interactions and population-specific effects are warranted to enhance our understanding of PD etiology and improve patient care.

Disruption of RNA Splicing Increases Vulnerability of Cells to DNA-PK Inhibitors.

DNA-dependent protein kinase (DNA-PK) is a key effector of non-homologous end joining (NHEJ)-mediated double-strand break (DSB) repair. Since its identification, a substantial body of evidence has demonstrated that DNA-PK is frequently overexpressed in cancer, plays a critical role in tumor development and progression, and is associated with poor prognosis in cancer patients. Recent studies have also uncovered novel functions of DNA-PK, shifting the paradigm of the role of DNA-PK in oncogenesis and renewing interest in targeting DNA-PK for cancer therapy. To gain genetic insight into the cellular pathways requiring DNA-PK activity, we used a CRISPR/Cas9 screen to identify genes in which defects cause hypersensitivity to DNA-PK inhibitors. We identified over one hundred genes involved in DNA replication, cell cycle regulation, and RNA processing that promoted cell survival when DNA-PK kinase activity was suppressed. This gene set will be useful for characterizing novel biological processes that require DNA-PK activity and identifying predictive biomarkers of response to DNA-PK inhibition in the clinic. We also validated several genes from this set and reported previously undescribed genes that modulate the response to DNA-PK inhibitors. In particular, we found that compromising the mRNA splicing pathway led to marked hypersensitivity to DNA-PK inhibition, providing a possible rationale for the combined use of splicing inhibitors and DNA-PK inhibitors for cancer therapy.

Patient Teaching Plan for Type II Diabetes: Addressing Genetic Predisposition and Hypertension

Type II diabetes, characterized by insulin resistance and eventual beta-cell dysfunction, is a global health crisis exacerbated by genetic predisposition and comorbidities such as hypertension. This review proposes a patient teaching plan aimed at managing Type II diabetes in individuals with genetic risk factors and concurrent hypertension. Recognizing that genetic predisposition significantly heightens the risk of developing Type II diabetes, the review underscores the necessity of incorporating genetic insights into patient education and care strategies. Hypertension, prevalent among those with Type II diabetes, complicates disease management and increases the risk of severe complications, necessitating a dual focus on both conditions. The review outlines a comprehensive teaching plan that includes education on the genetic aspects of diabetes, lifestyle modifications, and strategies for managing hypertension. It emphasizes the importance of a balanced diet, regular physical activity, weight management, stress reduction, and medication adherence. The plan also highlights the role of continuous monitoring through tools such as blood glucose logs and blood pressure measurements to track progress and adjust treatment as needed. Family involvement and support systems are identified as critical components of the teaching plan, providing emotional support and reinforcing healthy behaviors. By integrating personalized education, lifestyle changes, and ongoing support, the plan aims to improve patient outcomes, enhance quality of life, and effectively manage the combined challenges of Type II diabetes and hypertension. Keywords: Patient Teaching Plan, Type II Diabetes, Genetic Predisposition, Hypertension.

Advances in SMA: Genetic Insights, Prevalence in GCC, and Emerging Therapeutic Approaches

Advances in SMA: Genetic Insights, Prevalence in GCC, and Emerging Therapeutic Approaches

Deciphering cell-specific genetic insights: Unraveling the immunogenetic landscape of systemic lupus erythematosus

Functional genes within genomic loci associated with systemic lupus erythematosus (SLE), as identified by genome-wide association studies, exhibit cell-specific characteristics. This study delves into the impact of genetic variants within SLE loci on gene expression in different types of immune cells, unraveling the complex interplay between genetics and immunopathogenesis. Through the integration of genetic association and single-cell transcriptomic sequencing data, we identified potential cell-specific susceptibility genes for SLE across diverse immune cell subsets. The single-cell eQTL analysis revealed 30,409 associations involving 3583 SLE-associated SNPs. These SNPs exhibited associations with expression levels of 147 genes across 14 distinct cell types. The single-cell summary data-based Mendelian randomization (SMR) analysis identified 119 significant associations between the expression levels of 44 genes and SLE. Notably, myeloid cells exhibited associations solely within the MHC region, while T, B, and natural killer cells showed associations with both MHC and non-MHC genes in relation to SLE. Analysis of single-cell transcriptomic data from 33 children SLE cases and 11 match controls (227,303 cells), as well as 7 adult SLE cases and 5 match controls (78,414 cells) highlights differential expression of key genes. Notably, genetic variants within HLA-DRB1, HLA-DRB5, HLA-DQA1, HLA-DQB1, IRF7, IRF5, BLK and HLA-DPA1 play a pivotal role in mediating immune dysregulation in specific immune cell types. Our study contributes to a comprehensive understanding of the intricate relationships between genetics, gene expression and SLE susceptibility. The findings shed light on the cell-specific impacts of genetic variants within SLE-associated genomic loci.

Using different zebrafish models to explore liver regeneration.

The liver possesses an impressive capability to regenerate following various injuries. Given its profound implications for the treatment of liver diseases, which afflict millions globally, liver regeneration stands as a pivotal area of digestive organ research. Zebrafish (Danio rerio) has emerged as an ideal model organism in regenerative medicine, attributed to their remarkable ability to regenerate tissues and organs, including the liver. Many fantastic studies have been performed to explore the process of liver regeneration using zebrafish, especially the extreme hepatocyte injury model. Biliary-mediated liver regeneration was first discovered in the zebrafish model and then validated in mammalian models and human patients. Considering the notable expansion of biliary epithelial cells in many end-stage liver diseases, the promotion of biliary-mediated liver regeneration might be another way to treat these refractory liver diseases. To date, a comprehensive review discussing the current advancements in zebrafish liver regeneration models is lacking. Therefore, this review aims to investigate the utility of different zebrafish models in exploring liver regeneration, highlighting the genetic and cellular insights gained and discussing the potential translational impact on human health.

Epidemiological and Genetic Insights of the Circulating Foot-and-Mouth Disease Virus Serotypes in Egypt

Foot-and-mouth disease virus (FMDV) remains a major threat to livestock in Egypt, with ongoing outbreaks involving serotypes A, O, and SAT2. This study aimed to improve the understanding of these circulating FMDV strains to improve control measures. Between 2022 and 2023, 134 cattle samples from across Egypt were analyzed, revealing a 67.9% positivity rate for Pan FMDV. Of these positive samples, 64 were identified as serotype A and 27 as serotype O. Genetic analysis indicated that serotype O strains clustered within the EA-3 topotype, suggesting endemic persistence and potential vaccine evasion, while serotype A strains were associated with the African topotype and linked to regions such as Ethiopia, Kenya, and Sudan. Notable amino acid mutations in the VP1 protein of both serotypes highlighted potential challenges to vaccine effectiveness. These findings underscore the need for enhanced surveillance, timely vaccine updates, and regional cooperation to effectively manage FMD outbreaks in Egypt and neighboring countries.

Genomic characterization of a clonal emergent Salmonella Minnesota lineage in Brazil reveals the presence of a novel megaplasmid of resistance and virulence.

Salmonella Minnesota has emerged in Brazil as the predominant serovar in poultry and poultry products, along with Salmonella Heidelberg. To understand the emergence of Salmonella Minnesota over the last few years in Brazil, we performed a comparative analysis between 69 selected S. Minnesota genomes from Pathogen Detection database and 65 clonal emergent genomes isolated from Brazil. We demonstrate the presence of multidrug resistance genes against tetracycline [tet(A)], sulfonamide (sul2), and AmpC beta-lactamase (blaCMY-2) in emergent genomes, along with the carriage of a megaplasmid of resistance and virulence (~210 kb), designated pESM (plasmid for emergent Salmonella Minnesota). pESM is an IncC/A2 plasmid predicted to increase S. Minnesota environmental tolerance to mercury (mer operon) and provide resistance to tetracycline and ampicillin due to the presence of tet(A) and blaCMY-2, respectively. Moreover, pESM carries the yersiniabactin siderophore (high-pathogenicity island of Yersinia) related to the iron uptake. The temporal inference demonstrated that the most recent common ancestor dated from ~1978 and that the clonal emergent genomes carrying the pESM belong to a completely different lineage of S. Minnesota. Our results indicate that the presence of pESM likely contributes to the emergence of S. Minnesota and is precisely related to the successful spread of this particular clonal lineage in Brazil.IMPORTANCESalmonella Minnesota has emerged in Brazil as one of the leading serovars related to human and animal infection, presenting high virulence and antibiotic resistance to drugs classified as the highest priority for clinical treatment in humans. This study performed whole-genome sequencing, temporal analysis, and phylogenetics to understand the genetic insights related to the emergence of Salmonella Minnesota in Brazil. Long-read sequencing has led to the identification and characterization of a unique megaplasmid carrying virulence, antibiotic resistance, and heavy-metal tolerance genes, which may play a central role in S. Minnesota's successful emergence in Brazil and possibly worldwide. The potentially high transmissibility of this plasmid between clones and serovars represents a risk to public health since its acquisition may increase Salmonella's fitness, virulence, resistance, and persistence. Understanding the genetic aspects related to the emergence of serovars can help devise measures to mitigate the spread of hazardous multidrug-resistant strains.

Metagenomic Analysis Reveals the Effects of Different Land Use Types on Functional Soil Phosphorus Cycling: A Case Study of the Yellow River Alluvial Plain

Phosphorus (P) is a crucial limiting nutrient in soil ecosystems, significantly influencing soil fertility and plant productivity. Soil microorganisms adapt to phosphorus deficiency and enhance soil phosphorus effectiveness through various mechanisms, which are notably influenced by land use practices. This study examined the impact of different land use types (long-term continuous maize farmland, abandoned evolving grassland, artificial tamarisk forests, artificial ash forests, and wetlands) on soil phosphorus-cycling functional genes within the Tanyang Forest Farm in a typical region of the Yellow River alluvial plain using macro genome sequencing technology. The gene cluster related to inorganic phosphorus solubilization and organic phosphorus mineralization exhibited the highest relative abundance across different land use types (2.24 × 10−3), followed by the gene cluster associated with phosphorus transport and uptake (1.42 × 10−3), with the lowest relative abundance observed for the P-starvation response regulation gene cluster (5.52 × 10−4). Significant differences were found in the physical and chemical properties of the soils and the relative abundance of phosphorus-cycling functional genes among various land use types. The lowest relative abundance of soil phosphorus-cycling functional genes was observed in forestland, with both forestland types showing significantly lower gene abundance compared to wetland, farmland, and grassland. Correlation analysis and redundancy analysis (RDA) revealed a significant relationship between soil physicochemical properties and soil phosphorus-cycling functional genes, with ammonium nitrogen, organic carbon, total nitrogen, and pH being the main environmental factors influencing the abundance of these genes, explaining 70% of the variation in their relative abundance. Our study reveals land use’s impact on soil phosphorus-cycling genes, offering genetic insights into microbial responses to land use changes.

Fahr's Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights.

Fahr's syndrome is a rare neurodegenerative disorder with limited research on its oral manifestations. This study investigates the dental features and genetic background of Fahr's syndrome through a pedigree analysis and a retrospective literature study. A clinical examination and whole-exome sequencing (WES) were conducted on a female patient with Fahr's syndrome and pseudohypoparathyroidism, along with her family members. The patient presented with super-numerary teeth, tooth agenesis, enamel hypoplasia, and abnormal tooth eruption. The WES did not reveal any known pathogenic mutations related to pseudohypoparathyroidism or Fahr's disease. However, genetic variations in KIF1A, FZD8, and PDGFA may underlie these dental abnormalities. Additionally, a retrospective analysis of 22 reported cases from PubMed and the Human Gene Mutation Database (1 January 1965-30 June 2024) was conducted with keywords such as "Fahr's disease", "Fahr's syndrome", "dental", and "hypoparathyroidism". The analysis showed that patients with Fahr's syndrome, pseudohypoparathyroidism, and idiopathic hypoparathyroidism exhibited similar oral abnormalities, including tooth agenesis, root dysplasia, dental malformations, and abnormal tooth eruption. Variations in the incidence of tooth agenesis and dental malformation among these groups may be linked to differences in parathyroid hormone metabolism. These findings suggest oral abnormalities are the key local features of Fahr's syndrome and related parathyroid disorders.