Genetically Research Articles

Congenital Adrenal Hyperplasia with Poor Virilization at the Onset: A Case Report

Objective: Congenital adrenal hyperplasia (CAH) is a relatively rare disorder. This case report aims to highlight the diagnostic challenges faced by clinicians when typical characteristics of the disease are not fully evident. Case: The patient, a 2-month-old infant, presented at the emergency room with vomiting, diarrhea, dehydration, and lethargy. Physical examination revealed mild clitoral hypertrophy. Laboratory tests showed sodium levels at 121 mEq/L and potassium at 5.8 mEq/L, without hyperpigmentation or genital ambiguity. CAH was suspected. Due to resource constraints, 17-hydroxyprogesterone levels could not be measured. Treatment was initiated with oral prednisone (1 mg) and sodium chloride supplementation. One month later, after another hospital discontinued the treatment, the patient was readmitted with vomiting, dehydration, hyponatremia, and hyperkalemia, but still showed no significant clitoral enlargement or hyperpigmentation. The patient was stabilized and discharged after resuming treatment. Subsequent consultations revealed poor weight and height gain. At one year of age, the mother reported clitoral enlargement and morning erections. Treatment with fludrocortisone and oral hydrocortisone led to significant improvement. A genetic study confirmed a CYP21A2 gene mutation. Conclusion: This case underscores the diagnostic complexity of CAH in patients who do not initially exhibit typical virilization. It also emphasizes the importance of clinical suspicion and tailored treatment in resource-limited settings.

Changes in the cytotoxic and regulatory functions of NK cells in patients with long-COVID under the influence of the human herpesvirus 6 (pilot study).

Long-COVID are often accompanied by the development of autoimmun disorders. Such dysregulation of the immune system can be caused by reactivation of "sluggish" herpesvirus infection in patients after COVID-19. The one of the possible causes of autoimmunization is a change in the cytotoxic functions of NK cells under the influence of HHV6. The aim of research was to study the expression of receptor-ligand Fas-FasL, regulating marker CD38 and inhibitory receptor TIM-3 on NK cells in patients with long-COVID after mild, moderate, and severe stage of COVID-19 in the anamnesis with or without reactivation of HHV-6 and to identify risk factors for the formation of autoimmune disorders in these patients. This study investigated 124 adults (73 female and 51 male) aged 18 to 65years with long-COVID. The groups of patients with long-COVID were divided depending on mild, moderate, and severe forms of COVID-19 in the anamnesis and with/without reactivation of HHV-6. The control group included 20 healthy participants. Molecular genetic studies (PCR) were performed for all patients to detect the existence of DNA HHV6. Multiparametric flow cytometry was performed on 124 EDTA peripheral blood samples collected from long-COVID patients and 20 healthy controls. There was defined an imbalance between acute antiviral mechanisms, the response contributing to tissue damage and immunopathology, probably autoimmunity in patients with long-COVID after different forms of COVID-19 with reactivation of HHV-6. The presence of HHV-6 in groups with long-COVID was accompanied by higher expression of FasL and CD38, especially in patients, who had a severe form of COVID-19 in the anamnesis. The decrease in TIM-3 in patients with reactivation of HHV-6 compared to patients without HHV-6 puts the preservation of immunological tolerance at risk of Th1-dependent immune responses. The reactivation of HHV-6 is accompanied by higher expression of FasL and CD38, which indicates increased hyperactivation of NK cells, their cytotoxic activity, and subsequent exhaustion. NK cells of these patients lose their immunoregulatory ability, this creates prerequisites for the development of immunopathology, probably autoimmune processes.

Assessing the genetic diversity and character association of yield components in litchi (litchi chinensis sonn.)

Eighteen litchi genotypes were evaluated in this study for genetic advancement, heritability, variability, and association studies. The genotype ‘CHL-4’ exhibited maximum fruit weight (28.12 g), aril weight (14.00 g), aril thickness (9.65 mm) and seed weight (4.86 g). Fruit length (10.70 and 10.46%), panicle width (10.61 and 10.37%), and panicle length (15.75 and 15.45%) all had substantial phenotypic and genotypic coefficients of variation. All the metrics, with the exception of fruit diameter, aril thickness, seed weight, and number of fruits/panicle, showed higher heritability estimations with substantial genetic advances. In addition to being negatively correlated with fruit weight, aril weight, seed weight and pulp thickness, yield also showed a strong positive correlation with the number of fruits/panicle and aril percentage. Path analysis made the impact of different components on yield very evident. The maximum positive direct effect on yield at genotypic level was through fruit weight (10.120) followed by seed weight (4.070), panicle length (1.550), panicle girth (1.170) and negative direct effect via aril weight (-0.12.860) followed by panicle width (-11.830), fruit length (-6.290). In order to select a diverse parent for a subsequent breeding effort, cluster analysis assists in classifying comparable objects into appropriate categories. Therefore, the goal of the study was to confirm the genetic variability across genotypes of litchi and identify prospective features for the selection of genotypes that are superior. Bangladesh J. Bot. 53(3): 465-473, 2024 (September)

DNA polymerase ζ is a robust reverse transcriptase.

Cell biology and genetic studies have demonstrated that DNA double strand break (DSB) repair can be performed using an RNA transcript that spans the site of the DNA break as a template for repair. This type of DSB repair requires a reverse transcriptase to convert an RNA sequence into DNA to facilitate repair of the break, rather than copying from a DNA template as in canonical DSB repair. Translesion synthesis (TLS) DNA polymerases (Pol) are often more promiscuous than DNA Pols, raising the notion that reverse transcription could be performed by a TLS Pol. Indeed, several studies have demonstrated that human Pol η has reverse transcriptase activity, while others have suggested that the yeast TLS Pol ζ is involved. Here, we purify all seven known nuclear DNA Pols of Saccharomyces cerevisiae and compare their reverse transcriptase activities. The comparison shows that Pol ζ far surpasses Pol η and all other DNA Pols in reverse transcriptase activity. We find that Pol ζ reverse transcriptase activity is not affected by RPA or RFC/PCNA and acts distributively to make DNA complementary to an RNA template strand. Consistent with prior S. cerevisiae studies performed in vivo, we propose that Pol ζ is the major DNA Pol that functions in the RNA templated DSB repair pathway.

Complete mitochondrial genome assembly of Juglans regia unveiled its molecular characteristics, genome evolution, and phylogenetic implications

BackgroundThe Persian walnut (Juglans regia), an economically vital species within the Juglandaceae family, has seen its mitochondrial genome sequenced and assembled in the current study using advanced Illumina and Nanopore sequencing technology.ResultsThe 1,007,576 bp mitogenome of J. regia consisted of three circular chromosomes with a 44.52% GC content encoding 39 PCGs, 47 tRNA, and five rRNA genes. Extensive repetitive sequences, including 320 SSRs, 512 interspersed, and 83 tandem repeats, were identified, contributing to genomic complexity. The protein-coding sequences (PCGs) favored A/T-ending codons, and the codon usage bias was primarily shaped by selective pressure. Intracellular gene transfer occurred among the mitogenome, chloroplast, and nuclear genomes. Comparative genomic analysis unveiled abundant structure and sequence variation among J. regia and related species. The results of selective pressure analysis indicated that most PCGs underwent purifying selection, whereas the atp4 and ccmB genes had experienced positive selection between many species pairs. In addition, the phylogenetic examination, grounded in mitochondrial genome data, precisely delineated the evolutionary and taxonomic relationships of J. regia and its relatives. We identified a total of 539 RNA editing sites, among which 288 were corroborated by transcriptome sequencing data. Furthermore, expression profiling under temperature stress highlighted the complex regulation pattern of 28 differently expressed PCGs, wherein NADH dehydrogenase and ATP synthase genes might be critical in the mitochondria response to cold stress.ConclusionsOur results provided valuable molecular resources for understanding the genetic characteristics of J. regia and offered novel perspectives for population genetics and evolutionary studies in Juglans and related woody species.

Frontal Lobe Epilepsy: Bermuda's Triangle.

Despite great progress in imaging, genetics, surgery, and therapeutics, frontal lobe epilepsy (FLE) continues to be a challenge for neurologists and epileptologists. This manuscript summarizes the latest advancements in FLE discussed at the 2023 Epilepsy Specialist Symposium during the American Epilepsy Society Annual meeting. Correlation between stereoelectroencephalography and clinical symptoms has reinvigorated symptomatology literature in FLE, allowing for more precise aura anatomical localization. Neuropsychological assessments permit the identification of different FLE cognitive phenotypes, with language being the most prominent domain-specific impairment. These tests can help develop psychotherapeutic and cognitive support systems for these patients. Genetic and molecular studies have uncovered specific genes associated with FLE susceptibility, offering prospects for targeted therapies. Advanced neuroimaging techniques such as high field magnetic resonance imaging (MRI), functional MRI (fMRI), magnetoencephalography and colocalization of multiple imaging techniques have led to more precise localization of the epileptogenic zone providing insights into the dynamic neural networks underlying frontal lobe seizures. This has facilitated guided therapeutic surgical interventions that can be employed around the world, expanding access of these technologies to multiple populations. Despite many advances, prognosis of FLE remains poor for some patients. The biggest determinant for poor prognosis continues to be nonlesional FLE. Newer technological advancements aim to pass these barriers and offer FLE patients a better quality of life with lower seizure burden and higher cognitive outcomes.

Genotoxic Stress is a Trigger of Endothelial Dysfunction in Wistar Rats: Results of a Molecular Genetic Study

Genotoxic Stress is a Trigger of Endothelial Dysfunction in Wistar Rats: Results of a Molecular Genetic Study

Prevalence Estimation of the PALB2 Germline Variant in East Asians and Koreans through Population Database Analysis.

PALB2 is a tumor suppressor gene. Heterozygous germline pathogenic variants of PALB2 significantly increase the lifetime risk of breast cancer and moderately increase the risk of ovarian and pancreatic cancers. This study analyzed the estimated prevalence of PALB2 variants globally, focusing on East Asian and Korean populations, where limited data were previously available. We examined 125,748 exomes from the Genome Aggregation Database (gnomAD), including 9197 East Asians, and additional data from 5305 individuals in the Korean Variant Archive and 1722 in the Korean Reference Genome Database. All PALB2 variants were interpreted according to guidelines from the American College of Medical Genetics and Genomics and the Clinical Genome Resource. The global prevalence of PALB2 variants was 0.18%, with the highest prevalence in Finnish populations (0.41%) and the lowest in Ashkenazi Jewish populations (0.04%). East Asians had a prevalence of 0.09%. By combining data from Korean genome databases and gnomAD totaling 8936 individuals, the overall prevalence of PALB2 variants in the Korean population was determined to be 0.13%. This study is the first comprehensive investigation of PALB2 variant prevalence in East Asians and Koreans using gnomAD and Korean genome databases. These findings provide essential reference data for future research and highlight the importance of region-specific genetic studies that will inform genetic counseling and hereditary cancer risk management.

THE USE OF MNEMONIC METHODS AND ASSOCIATIVE CARDS IN STUDYING GENETICS ANNOTATION

This article explores the effectiveness of using mnemonic techniques and associative cards in the study of genetics. The focus is on the principles of how associative cards function and their role in enhancing the memorization of complex genetic terms and processes. The literature review supports the positive impact of visualization and associations on students’ cognitive activities, highlighting how these methods facilitate the retention of challenging information in fields like biology and genetics. Mnemonic techniques, which combine verbal and visual elements, help learners build stronger cognitive connections and improve recall accuracy. Associative cards are discussed as a tool for integrating visual and textual information, allowing students to grasp genetic concepts such as DNA replication, mutations, and hereditary patterns more effectively.Moreover, the article examines the practical implementation of mnemonic methods in the modern educational system, particularly focusing on the use of digital platforms like Quizlet and Anki. These platforms utilize spaced repetition techniques to improve long-term retention, making the learning process more flexible and interactive. The research emphasizes how personalized study approaches, using these cognitive tools, contribute to better learning outcomes and overall academic performance.The conclusions show that the incorporation of mnemonic techniques and associative cards into genetics education not only enhances student engagement but also significantly improves the efficiency of mastering complex biological concepts. This study underlines the potential of these methods to be further integrated into educational curricula to address learning challenges in genetic studies.

APOE contributes to longitudinal impulse control disorders progression in Parkinson’s disease

BackgroundImpulse control disorders (ICDs) are an increasingly recognized complication in Parkinson disease (PD). The pathogenesis of ICDs is currently unclear. Few genetic studies have been conducted in this area.ObjectiveWe aimed to ascertain the correlation between APOE and ICDs, and identify clinical predictors of ICDs in PD.MethodsThis study included 287 PD patients from the Parkinson’s Progression Markers Initiative. They were followed up to investigate the progression of ICDs over a period of 5 years. The cumulative incidence of ICDs and potential risk factors were evaluated using Kaplan-Meier and Cox regression analyses.Results44.3% (31/70) patients with APOE ɛ4 and 32.3% (70/217) patients without APOE ɛ4 developed ICDs during the five-year follow up period. There were significant differences between the PD with and without ICDs development group in age, MSEADLG score, ESS score, GDS score, and STAI score at baseline. In multivariable Cox regression analysis, APOE ε4 (HR = 1.450, p = 0.048) and STAI score (HR = 1.017, p = 0.001) were predictors of the development of ICDs. Patients with APOE ɛ4 group showed significantly lower CSF Aβ42 and CSF α-syn level than patients without APOE ɛ4 group at baseline. In patients with APOE ɛ4 group, the “low α-syn level” group and the “low ptau/tau ratio” group had a significantly higher incidence of ICDs, respectively.ConclusionsThis study provides important insights into the potential role of the APOE gene in the development of ICDs in PD. Further studies are needed to confirm our findings and to investigate the underlying mechanisms in more detail.

Genetic variability and diversity analysis for some agronomic traits of a sweet potato (Ipomoea batatas L.) collection: Insights for breeding superior genotypes

A study was conducted during the 2017 cropping season to assess the genetic variability of selected agronomic traits in sweet potato. A total of 355 sweet potato genotypes (351 from different countries of the world and four check varieties) were evaluated at Tuber Crops Research Sub Centre, Bangladesh Agricultural Research Institution, Bogura, Bangladesh. The experiment was conducted using an augmented randomized complete block design. Findings revealed positive correlations among five agronomic traits, namely the weight of marketable storage root per plant (MRW), weight of storage root per plant (RW), fresh weight of foliage per plant (FW), number of marketable storage root per plant (MRN) and number of storage root per plant (RN) suggesting their suitability for phenotypic selection. There was a positive skewness in most studied traits (FW, MRW, MRW and RW), indicating the presence of a few genotypes with exceptionally high values for those traits. By employing principal component analysis, the most influential traits in sweet potato genotypes were identified for first two components (Dim) showing significant contributions to Dim-1 and Dim-2 collectively accounting for 84.7 % of the total variance. Through cluster analysis, two main clusters (Cluster I and Cluster II) were identified among the studied genotypes, each characterized by distinct trait patterns. Cluster I demonstrated superior performance in all traits, while Cluster II exhibited lower values for all traits. Further sub-clustering within Cluster II (sub-clusters IIA and IIB) revealed additional variations of the collection. The Euclidean distance for inter-cluster (ranging from 7.94 to 11.39) and intra-cluster (ranging from 3.17 to 10.38) were determined utilizing the complete distance method. In restricted maximum likelihood (REML) model, all the traits were significantly influenced by genetic effects, with broad-sense heritability ranging from 32 % to 70 %. The REML displayed high selection accuracy, with values exceeding 91 % for studied traits. The Multi-Trait Genotype-Ideotype Distance Index (MGIDI) identified 18 genotypes, with Moz1.15 emerging as the best-performing genotype under a 5 % selection pressure. Among the selected genotypes, trait uniqueness was highest for FW (54 %), followed by RN (50 %), MRN (18 %), MRW (14 %), and RW (5 %). The selection gain for these top-ranked genotypes varied between 23.2 % and 69.2 %. Findings established the existence of useful genetic variability for selected agronomic traits of sweet potato that could be exploited for breeding, genetics study and conservation.

A new high-quality genome assembly and annotation for the threatened Florida Scrub-Jay (Aphelocoma coerulescens).

The Florida Scrub-Jay (Aphelocoma coerulescens), a Federally Threatened, cooperatively-breeding bird, is an emerging model system in evolutionary biology and ecology. Extensive individual-based monitoring and genetic sampling for decades has yielded a wealth of data, allowing for the detailed study of social behavior, demography, and population genetics of this natural population. Here, we report a linkage map and a chromosome-level genome assembly and annotation for a female Florida Scrub-Jay made with long-read sequencing technology, chromatin conformation data, and the linkage map. We constructed a linkage map comprising 4,468 SNPs that had 34 linkage groups and a total sex-averaged autosomal genetic map length of 2446.78 cM. The new genome assembly is 1.33 Gb in length, consisting of 33 complete or near-complete autosomes and the sex chromosomes (ZW). This highly contiguous assembly has an NG50 of 68 Mb and a Benchmarking Universal Single-Copy Orthologs (BUSCO) completeness score of 97.1% with respect to the Aves database. The annotated gene set has a BUSCO transcriptome completeness score of 95.5% and 17,964 identified protein-coding genes, 92.5% of which have associated functional annotations. This new, high-quality genome assembly and linkage map of the Florida Scrub-Jay provides valuable tools for future research into the evolutionary dynamics of small, natural populations of conservation concern.

The Association between Post-Traumatic Stress Disorder, 5HTTLPR, and the Role of Ethnicity: A Meta-Analysis.

The current meta-analysis looks at the effect of ethnicity on the connection between 5-HTTLPR SNPs and PTSD patients in all published genetic association studies. In accordance with PRISMA principles, the literature was searched in PubMed, Scopus, and ScienceDirect. A consistent method was followed by two reviewers who independently chose publications for inclusion and extracted data. Using a random-effects model, a meta-analysis of the biallelic and triallelic studies was conducted in order to determine the pooled OR and the associated 95% CI. The impact estimates were corrected for minor study effects, including publication bias, using the trim-and-fill approach. After 17 studies were deemed eligible for inclusion, the overall sample size was 8838 controls and 2586 PTSD patients, as opposed to 627 and 3524 in the triallelic meta-analysis. The results of our meta-analysis and comprehensive review do not point to a direct main effect of the 5-HTTLPR polymorphisms on PTSD. Nonetheless, preliminary data suggest that ethnicity influences the association between 5-HTTLPR and PTSD. According to our findings, ethnicity-especially African ethnicity-has a major influence on the relationship between 5-HTTLPR and PTSD and needs to be taken into account as a crucial moderating factor in further studies.

Genetic architecture of a single cohort of 230 Indian Parkinson's Disease patients

IntroductionIndian Parkinson's Disease (PD) patients are severely underrepresented in terms of genetic studies and little is known about the frequency of variants and their impact on motor and nonmotor symptoms (NMS). MethodsThis retrospective cross-sectional study was conducted in PD patients undergoing treatment at a tertiary care hospital from India. Patients were advised genetic testing if they had (i) age at onset (AAO) of motor symptoms at or before 50 years (EOPD), (ii) positive family history of PD, parkinsonism or dystonia. All patients underwent whole exome sequencing and potentially pathogenic variants were identified. ResultsClinical and genetic data were available for 230 (163 males, 70.4 %) patients. Thirty-five pathogenic and likely pathogenic variants in various PD genes were identified in 47 patients resulting in a yield of 20.4 %. In the remaining, 82 patients had either variants of uncertain significance or had variants in genes not associated with parkinsonism and 101 patients did not have any non-benign variants. Patients with genetically mediated PD had a lower AAO and statistically greater frequency of dystonia (36.2 %), postural instability (29.8 %) and mood disorder (29.8 %) and a higher Hoehn and Yahr score (2.9). Among the 47 patients, 11 patients had PARK-PRKN, six patients had PARK-PLA2G6, and 22 patients had PARK-GBA1. ConclusionAround one-fifth of early-onset PD can have an underlying monogenetic cause. PARK-GBA1, PARK-PRKN and PARK-PLA2G6 are the commoner causes of genetically mediated PD in India. Patients with genetic cause had an earlier age at onset, and more frequent dystonia, postural instability and dyskinesia.

Whole-genome Sequencing Association Analysis of Quantitative Platelet Traits in A Large Cohort of β-thalassemia.

Platelet acts as a crucial monitoring indicator for hypercoagulability and thrombosis and a key target for drug regulation. Genotype-phenotype association studies have confirmed that platelet traits are quantitatively regulated by multiple genes. However, there is currently a lack of genetic studies on the heterogeneity of platelet traits in β-thalassemia under hypercoagulable state. Here, we studied the phenotypic heterogeneity of platelet count (PLT) and mean platelet volume (MPV) in 1020 β-thalassemia patients. We further performed a functionally informed whole genome sequencing association analysis of common variants and rare variants (RVs) for PLT and MPV in 916 patients through integrative analysis of whole-genome sequencing data and functional annotation data. Extreme phenotypic heterogeneity of platelet traits was observed in β-thalassemia patients. Additionally, the common variant based gene-level analysis identified the novel gene of RNF144B associated with MPV. The RV analysis identified several novel associations in both coding and noncoding genome, including missense RVs of PPP2R5C associated with PLT and missense RVs of TSSK1B associated with MPV. In conclusion, we performed a comprehensive and systematic whole genome scan of platelet traits in the β-thalassemia cohort, demonstrating the specificity of genetic regulation of platelet traits in the context of β-thalassemia, providing potential targets for intervention.

Molecular Markers and Marker-Assisted Selection Provide Genetic Insights for Identifying Key Quantitative Trait Locus for Watermelon Rind Thickness.

Rind thickness (RT) is an important agronomic trait in watermelon [Citrullus lanatus (Thunb.) Mansf.] and affects watermelon storability. However, genetic studies on this trait, as well as gene regulation studies, are scarce and of limited production significance. We constructed a temporary F2 generation using the highly differentiated thick-rind watermelon 'XiaoXiGua-4' and the thin-rind watermelon 'DuanMan' as parents and localized the Cla97C02G044120 gene, which controls the thickness of watermelon rind, to the intervals of chromosome 2, CL2-32303995 and CL2-32316840, through 2 years of genetic analysis. No exonic mutations were found in this gene, but two promoter mutations resulted in changes in the promoter progenitor. Fluorescence quantitative PCR analysis revealed highly significant differences in expression at 1 d and 28 d, and the expression was significantly lower in thick-skinned watermelon varieties. Marker-assisted selection (MAS) for this trait was performed using the Caps marker CL2-32303995 and the InDel marker CL2-32316840, which not only verified the stability of the localization interval but also distinguished thick rind from thin rind. These results can be used for germplasm resource screening and have strong breeding significance.

Analysis of CNS autoimmunity in genetically diverse mice reveals unique phenotypes and mechanisms.

Multiple sclerosis (MS) is a complex disease with significant heterogeneity in disease course and progression. Genetic studies have identified numerous loci associated with MS risk, but the genetic basis of disease progression remains elusive. To address this, we leveraged the Collaborative Cross (CC), a genetically diverse mouse strain panel, and experimental autoimmune encephalomyelitis (EAE). The thirty-two CC strains studied captured a wide spectrum of EAE severity, trajectory, and presentation, including severe-progressive, monophasic, relapsing remitting, and axial rotary (AR)-EAE, accompanied by distinct immunopathology. Sex differences in EAE severity were observed in six strains. Quantitative trait locus analysis revealed distinct genetic linkage patterns for different EAE phenotypes, including EAE severity and incidence of AR-EAE. Machine learning-based approaches prioritized candidate genes for loci underlying EAE severity (Abcc4 and Gpc6) and AR-EAE (Yap1 and Dync2h1). This work expands the EAE phenotypic repertoire and identifies novel loci controlling unique EAE phenotypes, supporting the hypothesis that heterogeneity in MS disease course is driven by genetic variation.

Inhibition of striatal indirect pathway during second postnatal week leads to long-lasting deficits in motivated behavior.

Schizophrenia is a neuropsychiatric disorder with postulated neurodevelopmental etiology. Genetic and imaging studies have shown enhanced dopamine and D2 receptor occupancy in the striatum of patients with schizophrenia. However, whether alterations in postnatal striatal dopamine can lead to long-lasting changes in brain function and behavior is still unclear. Here, we approximated striatal D2R hyperfunction in mice via designer receptor-mediated activation of inhibitory Gi-protein signaling during a defined postnatal time window. We found that Gi-mediated inhibition of the indirect pathway (IP) during postnatal days 8-15 led to long-lasting decreases in locomotor activity and motivated behavior measured in the adult animal. In vivo photometry further showed that the motivational deficit was associated with an attenuated adaptation of outcome-evoked dopamine levels to changes in effort requirements. These data establish a sensitive time window of D2R-regulated striatal development with long-lasting impacts on neuronal function and behavior.

The role(s) of NF-Y in development and differentiation.

NF-Y is a conserved sequence-specific trimeric Transcription Factor -TF- binding to the CCAAT element. We review here the role(s) in development, from pre-implantation embryo to terminally differentiated tissues, by rationalizing and commenting on genetic, genomic, epigenetic and biochemical studies. This effort brings to light the impact of NF-YA isoforms on stemness and differentiation, as well as binding to distal vs promoter proximal sites and connections with selected TFs.

Molecular Study of Varicella zoster virus in Cerebrospinal Fluid from Stroke Patients of Thi-Qar province.

Varicella zoster virus (VZV) is a type of alpha-herpesvirus that specifically targets the nervous system. The initial infection, typically occurring during childhood, results in varicella (commonly known as chickenpox), after which the virus enters a dormant state in cranial nerve ganglia, dorsal root ganglia, and autonomic ganglia throughout the entire neuroaxis. Molecular and genetic studies of viruses are an important tool for virus development and identifying viral treatments to combat the diseases. The aim of the study was to determine the whole ORF4 sequence of the local VZV strains for phylogenetic analysis to determine the variability in the viral sequence. Ten samples of VZV DNA were subjected to the sequencing of the whole ORF4 region following identification using the PCR method. Sequences from five samples have been successfully analyzed. All clinical strains were discovered to possess a genome with a length of 124,884 base pairs. The sequences exhibited the occurrence of two distinct mutations, one being a transversion and the other a transition, with the latter resulting in an alteration of the amino acid. A phylogenetic tree was constructed using the maximum likelihood method based on the sequences of five nucleotide sequences from clinical samples and nine reference VZV strains. The tree displayed the evolutionary distances between these sequences. The analysis of the phylogenetic tree revealed the presence of five primary clades, with four of them originating from India (isolates S1, S2, S4, S5), while S3 exhibited similarity to a strain from the United Kingdom.