Gene Reports

Background: Uveal melanoma (UM) and cutaneous melanoma (CM) both originate from the same cell line. This proposes the possibility of a shared mechanism between entities, requiring explicit investigation. Methods: Data from GWAS Catalog and DisGeNET were used to identify shared variation-disease associations (VDAs) between UM and CM. The results were validated using the Ensembl database. In the next step, the STRING database was used to identify the protein-protein interaction. Results: Subsequently, 109 unique VDAs were identified for UM and 880 for CM. However, only 2 VDAs were found to be shared among UM and CM in different ethnic groups. These shared VDAs were rs12203592 of the IRF4 gene, rs12913832 of the HECT and RLD domain-containing E3 ubiquitin protein ligase 2 (HERC2) gene. Notably, PPI network assessment through STRING showcased that OCA2 and IRF4 directly interacted with HERC2. Conclusion: While HERC2 acts as a poor prognostic factor in uveal melanoma, IRF4 status is a key prognostic indicator in both UM and CM. Identifying IRF4 allele contributions enables a better understanding of melanoma pathogenesis and fosters the development of disease-specific approaches.

Background: Pulmonary arterial hypertension (PAH) is a serious disease with poor prognosis, especially in infants or preterm babies and there is still no optimal treatment for this disease. Noradrenalin (NE) is a vasoactive mediator which is released by sympathetic ganglion. According to previous studies, NE/1-adrenoreceptors is not only in regulating normal physiologic responses, but also in the pathogenesis of PAH. However, the mechanisms of NE in PAH are not fully understood. Methods: Human PASMC (PASMC) was used in this study. Cell viability assay and Wound healing assay were used to evaluate the proliferation and migration of PASMC. Immunoprecipitation and western blots analysis were used to investigate the mechanisms which involved in NE-induced PASMC proliferation. Results: We investigated that NE could induce human PASMC proliferation and migration. Furthermore, we first find that endothelin 1 (ET-1) signaling pathway plays an important role in NE-induced PASMC proliferation. ET1 is a critical molecular which is known for regulating cell growth and migration. We investigated that NE could increase NE-1 secretion, further enhancing ET-1 bind to its receptors. For further clarifying the downstream signals in NE/ET-1 induced PASMC proliferation, we detected the phosphorylation and expression levels of ERK and JNK. Conclusions: By combining the results from ours and previous studies, we believed that JNK/c-jun pathway may play an important role in NE-induced PASMC proliferation. Key Words: Noradrenaline; Pulmonary Arterial Hypertension; Pulmonary Artery Smooth Muscle Cells; Endothelin-1; JNK/c-Jun Signaling.

Introduction. Hypertrophic cardiomyopathy (HCM) is characterized by clinical and genetic heterogeneity. Age of manifestation, clinical and anatomical phenotypes of HCM vary significantly. This study discusses genetic causes and reconstructive surgery results for patients with particular intracardiac phenotype - diffused generalized HCM (DG-HCM). Methods: personal and familial medical history, general examination, 12-lead resting ECG, 24-hour ECG Holter monitoring, transthoracic and transesophageal EchoCG, cardiac MRI with gadolinium enhancement. A ten-gene panel was sequenced by IonTorrent PGM. Mutational screening in patients with suspected multisystemic diseases was performed by Sanger sequencing. Results: 170 patients with obstructive HCM (oHCM) requesting genetic counseling and surgical correction of HCM were evaluated. We distinguished particular DG-HCM subtype of oHCM (diffuse hypertrophy of IVS, LV free walls, papillary muscles displaced towards the LV apex) in 34 patients; 31 out of 34 underwent open heart reconstructive surgery. Patients with DG-HCM were younger at the time of surgery, had higher risk of SCD, and connective tissue dysplasia of the mitral valve. Hemodynamics normalization was observed in 1, 3, and 5 years after surgery. Eighteen ICDs were implanted; five patients experienced appropriate shocks. The genetic spectrum was enriched up to 30% by multisystem disorders. Mutations in "sarcomeric" genes were detected in 15%. Conclusion: Intracardiac phenotype of HCM may correlate with genetic cause and long-term prognosis. DG-HCM phenotype accounts for 20% oHCM patients and indications for open-heart surgery. Extended myectomy with parietal resection of papillary muscles and correction of mitral valve insufficiency provides long-term benefits for DG-HCM patients. Multisystem disorders in patients with DG-HCM should be of special attention. Study was supported by research project FURG-2024-0004.

Gene model for the ortholog of Insulin-like peptide 3 (Ilp3) in the D. pseudoobscura Apr. 2013 (BCM-HGSC Dpse_3.0/DpseGB3) Genome Assembly (GenBank Accession: GCA_000001765.2) of Drosophila pseudoobscura. This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

Background: Pancreatic ductal adenocarcinoma (PDAC) has remained one of the most serious malignancies and is still a leading cause of cancer-related deaths worldwide. Great attention has been paid to the relationship between diabetes mellitus and PDAC. The aim of our study was to analyse the mutual association of PDAC and diabetes mellitus in the entire population of the Czech Republic within a 5-year period. Methods: The incidence of PDAC in 2018-2022 was estimated based on the individual population data from the Czech National Cancer Registry. Another data source, the National Registry of Reimbursed Health Services that collects data from health insurance companies, was used to identify individuals recently diagnosed with diabetes mellitus. For the purpose of this study, diagnosis of new-onset of diabetes mellitus was defined as the time of the first prescription of any antidiabetic drug or another related health care service. Subsequently, patients diagnosed with PDAC in 2022 were followed retrospectively to see if they had been diagnosed with diabetes mellitus in the last five years before diagnosis of pancreatic cancer. Results: In 2022, 2,189 patients aged 60 years or older were diagnosed with pancreatic cancer. New-onset diabetes was observed in 17.4% within five years prior to diagnosis, with the highest occurrence (12.4%) within the last three years. Among patients aged 60-74 years, the respective proportions were 14.4% within three years and 5.7% four to five years prior to pancreatic cancer diagnosis. Conclusion: The incidence of pancreatic cancer in the Czech Republic is among the highest in Europe. One-fifth of PDAC cases are diagnosed following new-onset diabetes mellitus in patients over sixty. Unintended significant weight loss combined with new-onset diabetes thus must not be overlooked, as these can be early signs of PDAC. An individualised diagnostic work-up should follow without any unnecessary delay.

Background: Although the lung is of low biomass, it harbors a diverse and dynamic microbiome that may influence disease and healing. Existing studies have used diverse sampling methods with high propensities for contamination and sampling error, leading to diverse and unclear results. Here, we characterized the lung microbiome via airway and parenchymal samples to determine variation across patients and sampling methods. Methods: We recruited adult patients undergoing lung resection for suspected or confirmed malignancy. After resection and under sterile conditions, a 1 cm cubic piece of non-cancerous lung parenchyma and a swab from the specimen's bronchus were collected and sent for microbiome analysis via 16S rRNA gene amplicon (V4) sequencing on an Illumina platform. An established bioinformatics pipeline was used to determine taxonomic identification. Baseline clinical and demographic data were compared to microbiome composition. Results: A total of 86 patients were included in the study. Beta diversity (microbial composition) varied significantly by sampling method (biopsy of lung parenchyma versus airway swabs), so all further results were analyzed within sample types. Further analyses revealed significant differences in beta diversity by lobe of the lung, indicating a different microbial composition by anatomic location. Analyses of patient demographics revealed significant differences by age and comorbidities, including chronic obstructive pulmonary disease and atrial fibrillation. Conclusions: The lung harbors a diverse microbiome that differs by anatomic location and patient characteristics. This study provides a framework for more accurate future lung microbiome sampling and characterization.

Bioactive vitamin D (1,25-dihydoxyvitamin D or 1,25(OH)2D) is synthesized from its inert circulating form 25-hydroxyvitamin D (25(OH)D) by the enzyme 1--hydroxylase in the kidneys and in other tissues including breast. Because breast cancer is associated with changes in intra-tumoral lipid composition and vitamin D is known to affect lipid metabolism, we investigated the potential role of tumor-produced 1,25(OH)2D on lipid profile expression during breast tumor progression. For that purpose, we used the MMTV-PyMT mouse model which mimics the four phases of tumor progression seen in human breast cancer (hyperplasia, adenoma/mammary intraepithelial neoplasia (MIN), early carcinoma and late carcinoma). In previous studies we showed that conditional ablation of the gene encoding 1--hydroxylase (Cyp27b1), specifically in the mammary epithelium of this MMTV-PyMT mouse model, resulted in enhanced spontaneous tumor initiation and progression. In the present study, we used mass spectrometry imaging to compare lipid composition in the mammary glands of Cyp27b1 ablated and non-ablated MMTV-PyMT mice. In non-ablated control animals, we observed changes to specific lipid signals linked to stages of tumor progression. In particular, several discriminatory lipid signals were significantly up regulated throughout tumor progression. In ablated mice, absence of Cyp27b1 in the mammary epithelium was accompanied by different lipid signals in hyperplastic lesions. Several lipid signals were exclusively detected in non-ablated tumors but absent in hyperplasia. Our findings suggest that the tumor-produced 1,25(OH)2D known to play a key role in mammary tumor progression is mechanistically related to early changes in lipid composition seen prior to the development of hyperplasia.

Individuals with inherited retinal dystrophies (IRDs) undergo a slow, genetically heterogeneous loss of vision, yet how the visual cortex and non-visual sensory, motor, and psychological systems adapt to this deprivation remains poorly characterized. Existing evidence comes mainly from single-modality, cross-sectional studies that rarely account for genetic heterogeneity, making it hard to distinguish adaptive change from a direct, non-retinal mutation effect, since several IRD genes are not retina-specific. To address this gap, we designed an observational, longitudinal, multimodal protocol that combines ophthalmological, genetic, and in silico characterization with electrophysiological (steady-state visual evoked potentials and TMS-EEG), chemosensory, sensorimotor, and psycho-personological assessments. Patients aged 18 to 75 years with rod-cone (retinitis pigmentosa, Usher syndrome) or cone and cone-rod dystrophies will be assessed at baseline (T0) and at an 18-month follow-up (T1); sighted controls, matched for age, sex, and handedness, will complete the same battery once. Importantly, pairing genotypic with phenotypic data allows changes in non-visual domains to be interpreted against, rather than independently of, each patient's molecular background. We expect individuals with IRDs to differ from controls in visual cortical responsiveness and in selected non-visual sensory and sensorimotor measures, with genotype-related differences explored where sample size permits. Given the rarity of IRDs, the design is exploratory and emphasizes effect sizes and individual variability over large-sample inference. The protocol was approved by the Ethics Committee of the University of Verona (CARP 08.R1/2024) and follows the Declaration of Helsinki and the GDPR; findings will be disseminated through peer-reviewed publications and shared with patients and IRD patient associations.

Gene model for the ortholog of Density regulated protein (DENR) in the Apr. 2013 (BCM-HGSC Dpse_3.0/DpseGB3) Genome Assembly (GenBank Accession: GCA_000001765.2) of Drosophila pseudoobscura. This ortholog was characterized as part of a developing dataset to study the evolution of the Insulin/insulin-like growth factor signaling pathway (IIS) across the genus Drosophila using the Genomics Education Partnership gene annotation protocol for Course-based Undergraduate Research Experiences.

The lack of effective anti-JEV therapy possesses significant challenge to control JEV. {beta}-catenin, a key mediator of Wnt signaling pathway regulates different viral replication and host immune responses. However, its role in JEV infection remains to be elucidated. Thus, the current study focused on evaluating iCRT-14, a specific {beta}-catenin inhibitor, against JEV. Treatment with iCRT-14 following JEV infection resulted efficient reduction in viral progeny release, viral RNA and protein levels in Huh7 and HEK293T cells. Further, active and total {beta}-catenin, Cyclin D-1 and GSK3-{beta}, the other key pathway players were also modulated in infected and inhibitor treated cells. Moreover, iCRT-14 showed an IC of 4.56 in Huh7 cell and maximal inhibition at the early stages of the JEV life cycle. Interestingly, the overexpression of {beta}-catenin in both the cells and siRNA-mediated {beta}-catenin knockdown (in Huh7 cells) significantly abrogated JEV replication, as evidenced by decreased viral titers, viral protein expression, and viral as well as total RNA levels. Moreover, the reduction in extracellular (84%) and intracellular (60%) viral titers following iCRT-14 treatment highlights its role in impairing JEV infection. Further, in silico molecular docking and co-immunoprecipitation studies demonstrated interactions between {beta}-catenin and the JEV NS5 and E proteins. Collectively, these findings suggest that optimum level of {beta}-catenin is required for efficient JEV infection, highlighting its potential as a target for designing host-directed control strategies to regulate viral infection.

Objective: The purpose of this study is to determine how family history of cancer, genetic mutations, presenting symptoms, and comorbidity burden collectively influence cancer outcomes in patients with epithelial ovarian cancer. Methods: A retrospective analysis was conducted on all patients with epithelial ovarian cancer treated at the University of Missouri and Ellis Fischel Cancer Center between 2008 and 2024. Patient charts were reviewed for histological subtypes, stage of cancer, status of metastasis, CA-125 values, presenting symptoms, comorbidities, family history of cancer, genetic mutations, and survival outcome. Cox regression and association analyses were performed. Results: In this cohort of patients, comorbidities and genetic mutations did not influence ovarian cancer survival. While histological subtypes, CA-125 levels, and cancer stage remained strongly associated with survival. Significant associations were observed between certain presenting symptoms and cancer histological subtype, a family history of breast cancer, stage of cancer at diagnosis, the status of metastasis, and CA-125 levels. Conclusion: Comorbidities and genetic mutations were not significantly associated with ovarian cancer survival. Presenting symptoms were associated with several clinical and pathological variables linked to ovarian cancer diagnosis.

Mitofusin 2 (MFN2), a key outer mitochondrial membrane GTPase, regulates mitochondrial fusion, mitophagy, calcium homeostasis, and cellular bioenergetics. This study investigated the role of MFN2 variants in patients with Dilated Cardiomyopathy (DCM) using whole-exome sequencing (WES) of 5 familial and 10 sporadic DCM cases. A rare de-novo MFN2 variant, c.932A>G (p. N311S), was identified in a DCM patient, which is absent in 100 healthy controls as well as in the 1000 Genomes, IndiGenomes, databases while it shows very low MAF (0.0000081) in gnomAD. Structural modelling predicted the variant to be highly deleterious and revealed marked conformational distortion of the mutant protein (RMSD = 8.95 A). Molecular docking further showed a weakened interaction between MFN2-N311S and PRKN (Parkin), indicating impaired mitophagy and defective mitochondrial quality control. Moreover, functional analysis in stable H9c2 cardiomyoblast cell lines demonstrated significantly reduced MFN2 mutant protein expression, extensive mitochondrial clustering and fragmentation. The mutant protein also indicated significant reduction in mitochondrial membrane potential, ATP production, and oxygen consumption rate (OCR), together with elevated cytosolic Ca2+ and reactive oxygen species (ROS) levels. qRT-PCR analysis further revealed activation of the PI3K/AKT/mTOR signalling pathway and increased expression of hypertrophic markers Myh6, Nppa, Nfatc1, and Nfatc2. The above findings collectively highlight the significant impact of the MFN2 mutation on mitochondrial dynamics and cellular health, suggesting a significant correlation with the pathogenesis of DCM. This finding could further open a door to develop a potential therapeutic target for DCM.

Many factors including ionizing radiation and iodine deficiency are known to increase thyroid carcinogenesis risk. Our dataset analysis of The Cancer Genome Atlas (TCGA) showed that lower mRNA expression of NK2 homeobox 1 (NKX2-1) transcription factor, a master regulator of genesis, homeostasis, and function of thyroid, is linked to poor prognosis of papillary thyroid cancer patients. Here we provide the findings that thyroid-specific Nkx2-1 conditional knockout (Nkx2-1{Delta}T) mice develop thyroid adenoma and carcinoma in higher frequency with combined exposure to radiation and iodine deficiency than control Nkx2-1fl/fl mice. Iodine deficiency caused oxidative stress, which subsequently resulted in DNA damage, leading to transformation of thyroid follicular cells. RNA-seq gene set enrichment analysis indicated higher production of reactive oxygen species (ROS) in the thyroids of Nkx2-1{Delta}T as compared to Nkx2-1fl/fl mice with combined exposure to radiation and iodine deficiency. This was accompanied by a feedback induction of SOD3 (superoxide dismutase 3) and GPX2 (glutathione peroxidase 2). These antioxidants were naturally expressed at higher levels in the thyroids of Nkx2-1{Delta}T than Nkx2-1fl/fl mice without iodine deficiency or radiation. Nkx2-1{Delta}T thyroids exhibited abnormal follicle architecture and up-regulation of Acox2 (encoding acyl-CoA oxidase 2), which produces hydrogen peroxide. These results suggest that loss of NKX2-1 may contribute to excess ROS production, which elevates basal oxidative stress resulting in the promotion of ROS-induced carcinogenesis. We propose a role for NKX2-1 as a regulator of ROS production homeostasis in the thyroid. Its disturbance would dispose thyroid follicular cells more vulnerable to the ROS-producing carcinogens.

Long-term data describing cancer patterns in Iraq remain generally limited. This retrospective observational study was conducted to evaluate the distribution and longitudinal patterns of malignant solid tumors diagnosed over a period of 12 years (2014-2025) at a major tertiary oncology center in the Kurdistan Region of Iraq. Demographic characteristics, cancer types, and temporal trend changes in cancer distribution were analyzed. Comparisons were made between the first (2014-2019) and second (2020-2025) halves of the study period. Descriptive statistics, Chi-square tests, and linear regression analyses were used to evaluate the temporal trends. After excluding records with incomplete data, 11,704 patients were included. Breast cancer was the most frequently diagnosed malignancy, accounting for over one-quarter of all cases, followed by lung, colorectal, prostate, and bladder cancers, in descending order. Women represented the majority of patients, and the mean age at diagnosis increased significantly over time. In general, the relative distribution of colorectal, genitourinary, pancreatic, uterine, and thyroid cancers increased during the study period, whereas breast and lung cancers showed a modest but significant proportional decline despite remaining the most common malignancies. A marked reduction in case numbers was observed in 2020, followed by progressive recovery in subsequent years. To conclude, cancer patterns in the Kurdistan Region of Iraq changed substantially during the 12-year study period, with increasing proportions of colorectal and several other malignancies alongside an older age at diagnosis. These findings likely reflect a combination of demographic changes, evolving lifestyle-related risk factors, and improvements in cancer detection and referral. The results provide contemporary evidence to support regional cancer control strategies, screening programs, resource allocation, and future epidemiological research.

Utricularia gibba L. is an aquatic carnivorous plant with a diverse set of capabilities. Reddening of traps frequently occurs in old in vitro cultures. While anthocyanins are often responsible for red coloration in plants, not every plant turns red. Stress factors like high light or excess sucrose have previously been shown to induce the formation of anthocyanins. Here, we hypothesized the red trap formation to be dependent on nutrient deprivation and tested nitrogen deprivation. The results suggest, that only in combination with light, nitrogen deficiency leads to the activation of the complete anthocyanin biosynthesis pathway and visible red coloration. However, in darkness, anthocyanin biosynthesis appears generally less active compared to light conditions and expression of most anthocyanin biosynthesis genes is not significantly upregulated under nitrogen deficiency.

Stomata are the pores on plant surface, and these tiny pores are responsible for the flow of gas between plants and atmosphere. Currently, what effects of the broad and continuous increase in stomatal density achieved via genetic engineering on plant growth and development remain poorly understood. The 9 Arabidopsis transgenic lines with increased stomatal density were acquired through overexpressing FSTOMAGEN (the homologs of STOMAGEN, which are in Flaveria). The intermediate stomatal density (SD) lines exhibited increased trend in biomass. Compared with the lines with low SD, the biomass of Arabidopsis lines with intermediate SD (484 mm-2) significantly increased. There was a positive and significant correlation between biomass and relative water content. Across these transgenic lines, only during the earlier phase of growth, the leaf area exhibited a gradually increased trend as stomatal density increased, and there was both a significant linear relationship between SD and leaf growth rate and a strong linear relationship between SD and leaf area. In contrast, a clear relationship during the later phase wasnt observed. Under lower growth light intensity, there was an increased trend of biomass from other lines to the lines with intermediate SD, and the photosynthetic rate and stomatal conductance of the intermediate line were significantly increased. This study reveals plant-growth alterations that correspond to broad and near-continuous increases in stomatal density achieved via genetic engineering. Our study sheds light on the prerequisites for elevated stomatal density achieved via genetic engineering to promote plant growth.

Arabidopsis Leucine-Rich Repeat-Malectin Receptor Kinase (LRR-MAL RK) genes have been previously implicated in the early stages of pollen-pistil interactions to support compatible pollen. One member, Receptor Kinase in Flowers 1 (RKF1), has been associated with roles in the stigma to support pollen hydration as well as pollen tube growth. To better understand the function of RKF1 in these processes, a yeast two-hybrid screen was conducted with the RKF1 cytosolic kinase domain. Two positive interactors identified from this screen were the Group VII Ethylene Response Factors (ERFVIIs), RELATED TO APETALA 2.12 (RAP2.12) and RAP2.3. Their putative roles in pollen-pistil interactions were investigated using the quintuple erfvii mutant, and novel pistil-mediated pollen tube callose deposition phenotypes were uncovered during the pollen tube growth stage. Loss of seven LRR-MAL RKs including RKF1 in the pistil was previously found to cause an unusual phenotype where shorter callose plugs were deposited in wildtype pollen tubes compared to that seen in wildtype Col-0 pistils. Contrary to this, wildtype pollen tubes growing through the quintuple erfvii mutant pistil deposited callose plugs that were more elongated than that seen in wildtype Col-0 pistils. Further analyses with the proteolysis 6 (prt6) mutant and RAP2.12 rescue constructs were consistent with these phenotypes providing support that RKF1 is a negative regulator of RAP2.12 and RAP2.3 in the pistil during pollen tube growth.

The canonical Wnt/beta-catenin signaling pathway plays a key role in cardiovascular development, preservation, and pathology. Variations in critical Wnt pathway genes may influence an individual's susceptibility to cardiovascular disease (CVD), although data from specific populations are scarce. In this case-control study, we analyzed 15 single-nucleotide polymorphisms (SNPs) within eight Wnt pathway genes (APC, AXIN2, LRP6, CTNNB1, TCF7L2, DKK3, DKK4, and SFRP3) among 151 CVD patients and 129 healthy controls. We examined the genotypic and allelic distributions for correlations with CVD risk utilizing odds ratios, confidence intervals, and chi-square tests, while controlling for age and gender. We discovered that the APC variants rs459552 and rs454886 conferred protective effects, with age- and gender-dependent variation. AXIN2 SNP rs11079571 made men more likely to get CVD, and rs3923086 made people over 58 more susceptible. The DKK4 variant rs3763511 was associated with an elevated risk of cardiovascular disease, particularly among males and older individuals (age M/F). In SFRP3, rs7775 was associated with an elevated risk in older individuals (age M/F), whereas rs288326 showed a protective effect. For LRP6, rs2284396 increased the risk of CVD in females, while rs2075241 conferred protection in males. We did not identify significant associations for the CTNNB1, TCF7L2, or DKK3 variants. The present data indicate that specific Wnt pathway variants are associated with cardiovascular disease risk, contingent on age and gender. To verify these outcomes and determine whether these variants can serve as genetic markers of cardiovascular disease risk, larger, more diverse studies with a whole genome sequencing approach are necessary.

Genetic gains for yield and yield-contributing traits are low or stagnant in sorghum especially under low soil moisture environments which have contributed to a yield gap of 3.0 in Africa. Exploring the extent of variation for yield-determining traits in sorghum will effective variety design to boost production in drought-stressed environments. Therefore, the objective of this study was to determine genetic variability, heritability and genetic gains for agronomic and physiological traits in sorghum under varying drought stress conditions to guide cultivar and trait selection for breeding. The study was conducted as a three-way factorial treatment structure involving a genetically diverse panel of two hundred and twenty-five (225) sorghum genotypes which were grown under three drought conditions [i.e., non-stressed (NS), pre-anthesis drought stress (PrADS), and post-anthesis drought stress (PoADS)] and two environments (e.g., field and glasshouse environments) using a 15 x 15 alpha lattice design in two replicates. Data were collected on agronomic and physiological traits, namely: days to anthesis (DA), days to maturity (DM), plant height (PH), stay-green (SG), seed weight (TKW), biomass yield (BM), harvest Index (HI), grain yield (GY), leaf area (LA), leaf chlorophyll content (SPAD) and stomatal conductance (SC) and subjected to various statistical analyses. Combined analysis of variance showed highly significant (P < 0.001) genotype, drought condition and environment, and their interactions for most traits under assessment. Genotypic coefficient of variation (GCV) was lower than phenotypic coefficient of variation (PCV) for all traits. Heritability in the broad-sense (H2) was moderate for GY (40%) under PrADS condition, but high under NS (60%) and PoADS (65%) conditions. Similarly, high genetic advance was recorded for traits with high heritability. GY positively and significantly correlated with HI under NS (r = 0.88), PrADS (r = 0.62) and PoADS (r = 0.61). Other agronomic and physiological traits poorly correlated with GY. The following genotypes were selected based on high grain yield and suitable agronomic and physiological traits under NS conditions; DAN YARA (5.7 t/ha and SC = 335.5) and JARWA (GY = 5.6 t/ha, SC = 326.3); under PrADS CSRO1 (GY = 2.9 t/ha, SC = 275.2) and ICNSL2014-021-1 (GY = 2.7 t/ha, SC = 268.2) and under PoADS conditions DANYAR BANA (GY = 4.2 t/ha, SC = 237.2) and DAN YARA (3.9 t/ha. SC = 330.0). The selected genotypes with the desirable traits are useful genetic resources for breeding high-performing sorghum hybrids to boost sorghum productivity in drought-prone areas in Africa.

Cross-beaks are deemed a threat to poultry health, productivity, and animal welfare. Nevertheless, due to sporadic cases, heterogeneity of gene loci and incomplete dominance, the molecular mechanism of cross-beak formation, especially the degree of cross, is not yet clear. Thus, we screen key genes and reveal the possible phenotypic formation mechanism of cross-beak by comparison with different degrees of deformity in Huiyang Bearded chickens by compare whole-genome resequencing-based variant analysis. Comparative analysis between cross-beak and normal-beaked chickens identified differential variants in several candidate genes, including CDH11, CTNNAL1, NRXN3, NRXN1, CDH5, SDC3, and DHFR. Genes harboring these variants were enriched in pathways related to cell adhesion molecules and metabolic processes, with functional annotations involving cell-cell adhesion and neural crest cell migration. Comparative analysis between chickens with severe and slight cross-beak deformities identified additional candidate genes, including MRPL21, NSUN2, DDX55, GNB3, and NFKB2. These genes were associated with enriched terms and pathways related to focal adhesion, amyotrophic lateral sclerosis, steroid 7 -hydroxylase activity, and skin-barrier establishment. These findings provide a preliminary catalogue of genetic variants and candidate genes for future functional studies of cross-beak development and severity in chickens.