Journal of Applied Genetics最新文献

The skin is one of the largest organs in humans and is formed by a layer (termed the epidermis) that enables the body to interact with the environment and protects it from various harmful agents. The epidermis includes a physical, biochemical, and adaptive immune barrier. The immune system in the human body is responsible for protecting organisms from potentially infectious microorganisms, allergens, and toxins, maintaining homeostasis, controlling inflammation processes, and tissue repair. Autoimmune and autoinflammatory diseases are of the immune system manifesting as aberrations in adaptive and innate immunity that lead to an inflammatory state and self-attack damage, also in the skin. The commonness of cutaneous autoinflammations has increased over the past decades, and the occurrence of the disease can have a crucial impact on a patient's quality of life due to their visible nature, discomfort caused by somatic symptoms, and emotional and social challenges. In this review, we summarize the current knowledge of four common autoinflammatory skin diseases-vitiligo, alopecia areata, systemic lupus erythematosus, and psoriasis-with particular emphasis on their molecular background, including the role of genetic susceptibility, epigenetic regulation, and immunological pathways.

Praecitrullus fistulosus (Stocks) Pangalo is one of the nutrient-rich vegetables crops with proven therapeutic value. This study was designed to investigate the inheritance of important physiological and biochemical traits of Praecitrullus fistulosus. A set of 15 cross combinations were developed from five lines and three testers and evaluated for two years. The results depicted significant (p < 0.05) variation among the genotypes (parents and crosses) with respect to flavonoids, phenolic compounds, total carbohydrates, vitamin C, and carotenoids during both studied years. Data were analysed with traditional line × tester analysis for inheritance pattern, and the genotypes (parents and hybrids) were further analysed using polar plots for heterosis and gene action, and principal component biplot analysis for graphical explanation of combining abilities. The physiological traits, i.e., flavonoids, antioxidants, and total soluble proteins, showed significant means square values and general combining ability for genotypes, i.e., 20 and 47. The F1 hybrids 20 × 42, 8 × 63, and 20 × 40 showed high and significant specific combining ability for flavonoids, antioxidants, vitamin C, and carotenoids. GCA, SCA, and the PCA biplot also showed comparable results. The studies of heterosis using polar plots showed the preponderance of overdominance for the majority of traits. Conclusively, both conventional and graphical attribution of data using line × tester analysis could lead Praecitrullus fistulosus breeders to the selection of suitable breeding methods.

Endometriosis is a chronic gynecological condition characterized by the presence of endometrial-like tissue outside the uterine cavity. Its diagnosis remains a significant clinical challenge, often delayed by 7 to 12 years, leading to considerable socio-economic burden and a substantial decline in patients' quality of life, including potential infertility. Consequently, there is an urgent need to identify reliable biomarkers that would allow for earlier and more accurate detection. This review provides a comprehensive and up-to-date analysis of potential biomarkers for the diagnosis of endometriosis, including hormonal, inflammatory, genetic, epigenetic, immunological, metabolic, and imaging-based markers. Their diagnostic value and limitations are critically assessed, with particular emphasis on the advantages of multimarker and integrated diagnostic approaches to enhance early detection. The findings of this review offer valuable insights for clinicians, researchers, and healthcare professionals working to develop better diagnostic methods and improve patient outcomes. Moreover, the integration of emerging technologies, such as artificial intelligence, offers promising opportunities to revolutionize endometriosis diagnostics through personalized and precise medical care.

Screening genotypes with robust root architecture is preeminent to increase considerably bean (Phaseolus vulgaris L.) seed yield. The survey consisted to evaluate the genetic variability, estimate  broad sense heritability, genetic advance, and determine  the correlations for root traits, seed yield, and its components for ten bean lines. The field trial was laid out in a randomized complete block design with three replications. Data were submitted to the analysis of variance (ANOVA) and multivariate analyses using STATGRAPHICS PLUS version 16.1 and R version 3.5.1 statistical package programmes, respectively. ANOVA showed that the results revealed significant differences among the bean lines denoting a wider genetic variability for root traits, seed yield and its components. Principal component analysis displayed the relationship between traits and genotypes, indicating a substantial level of variability among the genotypes for root traits, yield components and seed yield; hence, it could be exploited for more improvement bean yield. Cluster analysis confirmed a sufficient genetic variability; thereby, the distal clusters could be used for further improvement bean yield and root traits. All traits exhibited high values of broad sense heritability suggesting these characters could be improved by selection. High broad sense heritability associated to high genetic advance was observed for root growth angle and 100-seeds weight. This attests that additive gene effects were involved in the heredity of these traits, and they can be readily fixed in the genotypes by selection in the early generations. The number of basal roots exhibited significant and positive correlation with the number of adventitious roots; hence, these traits could be considered the main components and selection may be effective in improving the bean root system. The bean lines Bigarré, FEB192, GLP190 S, ECA-PAN021, Gros Rouge and Petit Rouge could be used as elite material in breeding programmes for seed yield and root traits.

Over the last few years, the number of publications regarding genetics and sports has notably increased. However, the way this information is actually used is often misinterpreted by those who do not apply genetics in their day-to-day training. Therefore, the purpose of this short communication is to exemplify, using the real cases of identical twin athletes, how genetic information must be applied in sports. Additionally, we present data on performance tests and individual preferences for training and competitions between the athletes. Accordingly, the study concludes with a distinction between genetic profile studies and genetic application studies, emphasizing the importance of further research in this area, especially case reports.

Head and neck squamous cell carcinoma (HNSCC), the seventh most common cancer worldwide, has become more closely linked to poor lifestyle habits. Despite improvements in cancer treatment approaches, patients with stage I-II HNSCC have a 70-90% 5-year survival rate, and for patients with advanced stages III-IV, this rate falls to about 40%. This controversy is all about the heterogeneity of HNSCC. Finding diagnosis and prognosis biomarkers has the potential to make significant improvements in the life expectancy and overall health of these patients. The combination of bioinformatics and machine learning has facilitated the finding of the best markers for HNSCC. In this regard, RNA expression data were obtained to identify genes that were expressed differently (DEGs) and utilize a deep learning algorithm to identify genes that exhibited significant variability. In addition, correlations between clinical data and DEGs, the building of a Receiver Operating Characteristic (ROC) curve, and the prediction of tumor-infiltrating immune cells were analyzed. Deep learning analysis identified diagnostic and prognostic biomarkers strongly associated with carcinogenesis, such as KRT33B, KRTAP3-3, C14orf34, and ACADM. In addition, after analyzing the ROC curve, it was found that the combination of ACADM, KRT33B, and C14orf34 is the most practical combination of diagnostic markers. This combination achieved sensitivity, specificity, and Area Under the Curve (AUC) values of 0.92, 0.86, and 0.93, respectively.

According to UNICEF India, an estimated 67,385 neonates are born daily in India, each striving to survive the initial 28 days of life, which are pivotal in determining their future health prognosis. A significant number of these neonates succumb to inborn errors of metabolism (IEM), resulting in a spectrum of either manageable or severe clinical consequences. The evolution of techniques from basics to next-generation sequencing (NGS) and cutting-edge bioinformatics has enabled the prompt and precise identification of metabolic defects during the early stages of life. But the limited awareness, facilities, and access to the screening program necessitate the urgent need for establishing a state-of-the-art screening initiative all over India. The program holds the potential to substantially diminish infant mortality rates and alleviate the national health burden. This article delineates inborn errors of metabolism, investigates the advancements in diagnostic methodologies, outlines the NGS technique, underscores the role of computational biology, and advocates for the establishment of a centralized screening initiative in India specifically for treatable IEM. Furthermore, a few case studies have been included to showcase the notable discoveries of genes and associated disorders facilitated by NGS along with some studies highlighting the advantages of employing computational biology.

MYC transcription factors, belonging to the basic helix-loop-helix (bHLH) superfamily, are widely recognized for their critical involvement in controlling various aspects of plant growth, developmental processes, and responses to environmental stresses. Triticum monococcum L. subsp. aegilopoides, a wild diploid wheat species, provides valuable Genetic resources for improving stress tolerance and nutritional traits. In this study, 18 TbMYC genes were identified in T. monococcum L. subsp. aegilopoides, characterized by diverse gene structures, conserved motifs, and distinct tissue-specific expression patterns. Phylogenetic analysis grouped these genes into six groups, revealing unique structural features and motifs that suggest functional diversification. Promoter analysis uncovered numerous cis-regulatory elements linked to light response, stress adaptation, and hormonal regulation, with TbMYC8 notably enriched in ABA-responsive elements, highlighting its potential involvement in abscisic acid-mediated stress responses. Synteny analysis demonstrated conserved TbMYCs across Triticeae species, underscoring their evolutionary significance. RNA-seq analysis identified five TbMYCs significantly implicated in the anthocyanin biosynthetic pathway, particularly in regulating pigment accumulation in a red-glume mutant. These findings underscore the critical roles of TbMYCs in stress adaptation and secondary metabolism, providing valuable insights for wheat improvement and functional genomics.

GATA transcription factors are a group of type IV zinc-finger proteins that play critical roles in regulating plant growth, development, and responses to abiotic stress. These genes are characterized by a conserved DNA-binding domain with the consensus sequence (A/T)GATA(A/G) and a type IV zinc-finger motif containing the conserved sequence CX2CX18-20CX2C. In this study, 27 GATA genes (designated AsGATA) were identified in Avena sativa using the GrainGenes genome database. Comprehensive analyses were performed to examine their conserved motifs, physicochemical properties, chromosomal localization, gene structures, phylogenetic relationships, and cis-acting regulatory elements. Based on the classification of GATA family members in Arabidopsis thaliana, the AsGATA genes were categorized into four subfamilies. Gene structure analysis revealed that members of the same subfamily generally exhibited similar structural features. Subcellular localization predictions indicated that most AsGATA proteins are Likely to function in the nucleus. Chromosomal mapping demonstrated the random distribution of the 27 AsGATA genes across the 21 chromosomes of Avena sativa. Expression profiling, based on RNA-Seq data from the NCBI SRA database, identified six AsGATA genes that are responsive to salt stress. These genes represent promising candidates for functional studies and could be leveraged in breeding programs to develop salt-tolerant Avena sativa varieties.

Hip dysplasia (HD) is a major welfare problem, and in the present work, we investigated a sample of Bernese Mountain Dog breed bred in Brazil to estimate the genetic parameters for HD and to determine the best model for the estimation of breeding values (EBV) of dogs. The pedigree database consisted of 2218 dogs, of which 1202 had the hip phenotype available, corresponding to the X-ray (XR) classification according to the Fédération Cynologique Intenationale. Comparisons were made between seven different threshold models considering the HD phenotype with five classifications (reports from A to E) according to the XR (PHD1) and the binary phenotype with joints considered normal (report A) and abnormal (reports B to E) (PHD2). The threshold animal model was used to estimate the variance components and predict the genetic values. Fourteen models were evaluated, seven using variable PHD1 and another seven considering variable PHD2. Evaluated fixed effects were sex, birth year, or country of birth, which differed between models. The best fit model for the PHD1 phenotype estimated a heritability value of 0.30, while the best fit model for PHD2 estimated a value of 0.36. EBVs ranged from - 0.736 to 1.040 for PHD1 and from - 1.050 to 1.459 for PHD2, showing a wide diversity in the genetic merit of dogs. Approximately 40% of the animals had an EBV accuracy value greater than 50%. Considering the best two fit models for the tested phenotypes, we opted for the indication and use of the model working with PHD1, because of the direct correspondence of the PHD1 phenotype with the five possibilities of hip XR reports, once this facilitates understanding by both veterinarians and breeders. This model is used as the only fixed effect of the birth year. The present study is one of the first on canine genetic improvement approach in Brazil, and our results indicate the importance and potential of the use of EBV in the selection of sires for the improvement of HD in the national breeding of the breed.