Journal of Applied Genetics最新文献

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.

Epidermolysis bullosa (EB) is a group of inherited skin disorders characterized by skin fragility and blistering. Here, four Bleu du Maine lambs, sired by one ram, were diagnosed with EB very early in life. Due to the severity of the clinical signs, the lambs had to be euthanized. The affected lambs exhibited hoof sloughing and multiple ulcerations on the head, oral cavity, skin over the joints, and the ruminal pillars. Histopathology showed abrupt subepidermal clefts, epidermal detachment directly above the basal membrane, and ulcerations consistent with junctional EB (JEB). Two cases underwent whole-genome sequencing (WGS) to identify the genetic cause. Genomic analyses with the hypothesis of autosomal recessive inheritance identified the most likely pathogenic homozygous 1-bp deletion in the LAMB3 gene (NC_056065.1:g.73166198delG). Recessive forms of JEB in humans and dogs are caused by variants in LAMB3 gene, which encodes β3 subunit of laminin 332, a critical component of the epidermal basal membrane. The ovine frameshift variant putatively introduces a premature stop codon and disrupts the donor splice site of exon 20. The variant allele was homozygous in both sequenced cases and heterozygous in three unaffected close relatives and was absent in 1075 unrelated control sheep of various other breeds. This study highlights the importance of genetic investigation in veterinary diagnostics of and represents the first report of a LAMB3-related recessive EB in sheep. The findings enable genetic testing to inform breeding strategies and provide a second spontaneous large animal model for LAMB3-related JEB in humans.

Urofacial syndrome or Ochoa syndrome (UFS or UFOS) is a rare disease characterized by inverted facial expression and bladder dysfunction that was described for the first time in Colombia. It is an autosomal recessive pathology with mutations in the HPSE2 and LRIG2 genes. However, 16% of patients do not have any mutations associated with the syndrome. Despite the importance of neurobiology in its pathophysiology, there are no neurological, neuropsychological, or psychological studies in these patients. A 30-year-old male from Medellín, Colombia, with a significant perinatal history, was diagnosed with grade 4 hydronephrosis on his first ultrasound test. At 4 months of age, symptoms such as hypomimia, lagophthalmos, and recurrent urinary tract infections started to manifest. Imaging studies revealed urinary tract dilatation, vesicoureteral reflux, and a double collector system on his left side, which led to the diagnosis of UFS. Multiple procedures, including vesicostomy, ureterostomy, and enterocystoplasty, were performed. At 20 years of age, he achieved urinary sphincter control. Genetic analysis revealed a founder pathogenic variant, c.1516C > T (p.Arg506Ter), in the HPSE2 gene, which produces a truncated protein that lacks 86 amino acids. This variant is classified as pathogenic according to the ClinVar database for UFS. The mutation age is approximately 260-360 years, and the two alleles share a 7.2-7.4 Mb IBD segment. Moreover, we detected European local ancestry in the IBD segment, which is consistent with a Spanish introduction. Neurological examination, neuropsychological assessment, and psychological testing revealed no abnormalities, except for high stress levels. Clinical analysis of this patient revealed distorted facial expression and detrusor-sphincter dyssynergia, which are typical of patients with UFS. Genetic analysis revealed a pathogenic variant in the HPSE2 gene of European origin and a mutation age of 260-360 years. From a neurological, neuropsychological, and psychological (emotional and personality) perspective, the patient showed no signs or symptoms of clinical interest.

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder. The clinical presentation may be fatal if these patients develop the catastrophic accelerated phase, i.e., hemophagocytic lymphohistiocytosis (HLH). We report a 2.5-year boy that presented to us with complaints of fever, recurrent cough, glandular neck swelling, and abdominal distension for 6 months. He also had a history of female sibling death (age, 3 years) 3 years ago with similar complaints. On examination, he had light skin and silver hair along with severe pallor, generalized significant lymphadenopathy, severe acute malnutrition, and hepatosplenomegaly. Since the patient's peripheral blood smear and bone marrow showed giant primary azurophilic granules in lymphocytes and eosinophils and the presence of 5 out of 8 HLH 2004 criteria, i.e., fever, hepatosplenomegaly, pancytopenia, hyperferritinemia, and hypertriglyceridemia, a diagnosis of CHS with HLH was made. However, no hemophagocytosis was observed. A novel homozygous nonsense variant in exon 45 of the LYST gene (chr1:g.235702929G > A) similar to the one found in the elder female sibling and previously reported "likely pathogenic" was discovered, which was identified through genetic testing. This case highlights the importance of genetic testing in diagnosis as well as antenatal counselling.