Integrated GWAS, linkage, and transcriptome analysis to identify genetic loci and candidate genes for photoperiod sensitivity in maize.

Introduction: Maize photosensitivity and the control of flowering not only are important for reproduction, but also play pivotal roles in the processes of domestication and environmental adaptation, especially involving the utilization strategy of tropical maize in high-latitude regions. Methods: In this study, we used a linkage mapping population and an inbred association panel with the photoperiod sensitivity index (PSI) phenotyped under different environments and performed transcriptome analysis of T32 and QR273 between long-day and short-day conditions. Results: The results showed that PSIs of days to tasseling (DTT), days to pollen shedding (DTP), and days to silking (DTS) indicated efficacious interactions with photoperiod sensitivity for maize latitude adaptation. A total of 48 quantitative trait loci (QTLs) and 252 quantitative trait nucleotides (QTNs) were detected using the linkage population and the inbred association panel. Thirteen candidate genes were identified by combining the genome-wide association study (GWAS) approach, linkage analysis, and transcriptome analysis, wherein five critical candidate genes, MYB163, bif1, burp8, CADR3, and Zm00001d050238, were significantly associated with photoperiod sensitivity. Discussion: These results would provide much more abundant theoretical proofs to reveal the genetic basis of photoperiod sensitivity, which would be helpful to understand the genetic changes during domestication and improvement and contribute to reducing the barriers to use of tropical germplasm.

Natural variation in GhKASI_A05 modulates cottonseed oil content in Gossypium hirsutum L.

Cotton is of great economic value because of its fiber that is used in natural textile commodities and its seeds that contain an edible oil with a high content of unsaturated fatty acids and biodiesel applications. Here, we reported that GhKASI_A05 was associated with the cottonseed oil content (SOC) in a natural population via candidate gene association analysis. An 11-bp Indel located in the GhKASI_A05 promoter was found to contribute to SOC and differential expression in upland cotton inbred accessions. Interaction analysis showed that GhWRI1, an AP2/EREBP family transcription factor, that reportedly functions in plant seed oil and fatty acids (FAs) accumulation, directly bound to AW-box cis-elements in two haplotypes of the GhKASI_A05 promoter and activated the expression of GhKASI_A05 at different levels. The seed-specific overexpression of GhKASI_A05 resulted in increased seed size, weight, and protein content, and C16:0 and C18:1 contents but reduced SOC. Our results provide new insights into the biological function of GhKASI in SOC and effective strategies for cotton breeding in the future.

Integrated GWAS and transcriptome analysis reveals key genes associated with muscle fibre and fat traits in Gushi chicken.

1. In the following experiment meat quality traits of a Gushi-Anka F2 resource population were measured, and their heritability estimated. Intramuscular fat (IMF) had medium heritability (0.35) but leg muscle fibre density (LMD), leg muscle fibre diameter (LMF), breast muscle fibre density (BMD), fresh fat content (FFA), and absolute dry fat content (AFC) had low heritability (0-0.2). The IMF presented the most important genetic additive effect among the poultry meat quality-related traits studied.2. The phenotypic data of meat quality traits in the Gushi-Anka F2 resource population were combined with genotyping by sequencing (GBS) data to obtain genotype data. Six meat quality traits in 734 birds were analysed by GWAS. Based on these variants, 83 significant (-log10(p) > 4.42) single nucleotide polymorphisms and four quantitative trait loci (QTL) regions corresponding to 175 genes were identified. Further linkage disequilibrium (LD) analysis was conducted on chromosome 13 (Chr13) and chromosome 27 (Chr27) QTL regions.3. Based on the transcriptome data and GWAS results, 12 shared genes - ITGB3, DNAJC27, ETV4, C7orf50, FKBP1B, G3BP1, IGF2BP1, KCNH6, LOC416263, SCARA5, SMIM5 and TBL1XR1 were identified as candidate genes influencing muscle fibre and fat traits.

Circulating Proteins Associated with Anti-IL6 Receptor Therapeutic Resistance in the Sera of Patients with Severe COVID-19.

Circulating proteomes provide a snapshot of the physiological state of a human organism responding to pathogenic challenges and drug interventions. The outcomes of patients with COVID-19 and acute respiratory distress syndrome triggered by the SARS-CoV2 virus remain uncertain. Tocilizumab is an anti-interleukin-6 treatment that exerts encouraging clinical activity by controlling the cytokine storm and improving respiratory distress in patients with COVID-19. We investigate the biological determinants of therapeutic outcomes after tocilizumab treatment. Overall, 28 patients hospitalized due to severe COVID-19 who were treated with tocilizumab intravenously were included in this study. Sera were collected before and after tocilizumab, and the patient's outcome was evaluated until day 30 post-tocilizumab infusion for favorable therapeutic response to tocilizumab and mortality. Hyperreaction monitoring measurements by liquid chromatography-mass spectrometry-based proteomic analysis with data-independent acquisition quantified 510 proteins and 7019 peptides in the serum of patients. Alterations in the serum proteome reflect COVID-19 outcomes in patients treated with tocilizumab. Our results suggested that circulating proteins associated with the most significant prognostic impact belonged to the complement system, platelet degranulation, acute-phase proteins, and the Fc-epsilon receptor signaling pathway. Among these, upregulation of the complement system by activation of the classical pathway was associated with poor response to tocilizumab, and upregulation of Fc-epsilon receptor signaling was associated with lower mortality.

A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.

SGSM proteins are small modulator proteins interacting with proteins in the RAS signaling pathway. Studies with mouse and human tissues indicated that SGSM genes were highly expressed in the brain and could be expressed at different levels at different stages of development in fetal and adult brain tissue. It was first reported by Birnbaum et al. that the SGSM3 gene might be associated with a Mendelian inherited disease in families of Ashkenazi Jews with clinical manifestations of intellectual disability (ID). In this study, a novel homozygous stop-gain (NM_015705.6: c.1576C>T: p.(Arg526Ter)) variation was detected in the SGSM3 gene in two siblings with short stature and ID findings. The report of two cases with bi-allelic LOF variants in the SGSM3 gene from different populations with similar clinical manifestations strengthens the potential of this gene as a candidate gene for the nonsyndromic ID phenotype. Functional studies are required to investigate the signaling pathways affected by SGSM3 gene variations to produce the ID phenotype and their effect on the functioning of neurons.

Genetic Associations of Persistent Opioid Use After Surgery Point to OPRM1 but Not Other Opioid-Related Loci as the Main Driver of Opioid Use Disorder.

Persistent opioid use after surgery is a common morbidity outcome associated with subsequent opioid use disorder, overdose, and death. While phenotypic associations have been described, genetic associations remain unidentified. Here, we conducted the largest genetic study of persistent opioid use after surgery, comprising ~40,000 non-Hispanic, European-ancestry Michigan Genomics Initiative participants (3198 cases and 36,321 surgically exposed controls). Our study primarily focused on the reproducibility and reliability of 72 genetic studies of opioid use disorder phenotypes. Nominal associations (p < 0.05) occurred at 12 of 80 unique (r2 < 0.8) signals from these studies. Six occurred in OPRM1 (most significant: rs79704991-T, OR = 1.17, p = 8.7 × 10-5), with two surviving multiple testing correction. Other associations were rs640561-LRRIQ3 (p = 0.015), rs4680-COMT (p = 0.016), rs9478495 (p = 0.017, intergenic), rs10886472-GRK5 (p = 0.028), rs9291211-SLC30A9/BEND4 (p = 0.043), and rs112068658-KCNN1 (p = 0.048). Two highly referenced genes, OPRD1 and DRD2/ANKK1, had no signals in MGI. Associations at previously identified OPRM1 variants suggest common biology between persistent opioid use and opioid use disorder, further demonstrating connections between opioid dependence and addiction phenotypes. Lack of significant associations at other variants challenges previous studies' reliability.

Deciphering the genetic basis of behavioral traits in dogs: Observed-trait GWAS and latent-trait GWAS analysis reveal key genes and variants.

Dogs exhibit remarkable phenotypic diversity, particularly in behavioral traits, making them an excellent model for studying the genetic basis of complex behaviors. Behavioral traits such as aggression and fear are highly heritable among different dog breeds, but their genetic basis is largely unknown. We used the genome-wide association study (GWAS) to identify candidate genes associated with nine behavioral traits including; stranger-directed aggression (SDA), owner-directed aggression (ODA), dog-directed aggression (DDA), stranger-directed fear (SDF), nonsocial fear (NF), dog-directed fear (DDF), touch sensitivity (TS), separation-related behavior (SRB) and attachment attention-seeking (AAS). The observed behavioral traits were collected from 38,714 to 40,460 individuals across 108 modern dog breeds. We performed a GWAS based on a latent trait extracted using the confirmatory factor analysis (CFA) method with nine observable behavioral traits and compared the results with those from the GWAS of the observed traits. Using both observed-trait and latent-trait GWAS, we identified 41 significant SNPs that were common between both GWAS methods, of which 26 were pleiotropic, as well as 10 SNPs unique to the latent-trait GWAS, and 5 SNPs unique to the observed-trait GWAS discovered. These SNPs were associated with 21 genes in latent-trait GWAS and 22 genes in the observed-trait GWAS, with 19 genes shared by both. According to previous studies, some of the genes from this study have been reported to be related to behavioral and neurological functions in dogs. In the human population, these identified genes play a role in either the formation of the nervous system or are linked to various mental health conditions. Taken together, our findings suggest that latent-trait GWAS for behavioral traits in dogs identifies significant latent genes that are neurologically prioritized.

Genome-wide association study reveals genetic basis and candidate genes for chlorophyll content of leaves in maize (Zea mays L.).

The chlorophyll content (CC) directly affects photosynthesis, growth, and yield. However, the genetic basis of CC is still unclear in maize (Zea mays L.). Here, we conducted a genome-wide association study using mixed linear model for CC of the fifth leaves at seedling stage (CCFSS) and the ear leaves at filling stage (CCEFS) for 334 maize inbred lines. The heritability estimates for CCFSS and CCEFS, obtained via variance components analysis using the lme4 package in R, were 70.84% and 78.99%, respectively, indicating that the CC of leaves is primarily controlled by genetic factors. A total of 15 CC-related SNPs and 177 candidate genes were identified with a p-value < 4.49 × 10-5, which explained 4.98-7.59% of the phenotypic variation. Lines with more favorable gene variants showed higher CC. Meanwhile, Gene Ontology (GO) analysis implied that these candidate genes were probably related to chlorophyll biosynthesis. In addition, gene-based association analyses revealed that six variants in GRMZM2G037152, GRMZM5G816561, GRMZM2G324462, and GRMZM2G064657 genes were significantly (p-value < 0.01) correlated with CC, of which GRMZM2G064657 (encodes a phosphate transporter protein) and GRMZM5G816561 (encodes a cytochrome P450 protein) were specifically highly expressed in leaves tissues. Interestingly, these candidate genes were previously reported to involve in the regulation of the contents of chlorophyll in plants or Chlamydomonas. These results may contribute to the understanding of genetic basis and molecular mechanisms of maize CC and the selection of maize varieties with improved CC.

Network and systems biology approaches help investigate gene regulatory interactions between Salmonella disease and host in chickens: Model-based in silico evidence combined with gene expression assays.

BACKGROUND: Salmonella enteritidis (SE), a previously widespread infectious disease, is still cited as a major factor in economic losses in commercial chicken production. The host's genetic immune system determines the pathogenicity of a particular bacterium. To shed light on this topic, it was necessary to understand the key candidate genes essential for regulating susceptibility and resistance to the target disease. The field of poultry farming in particular has benefited greatly from the connection between quantitative and molecular genetics. OBJECTIVES: This study aims to identify the most important immune-related genes and their signalling pathways (gene ontology, co-expression and interactions) and to analyse their accumulation in host-resistant SE diseases by combining gene expression assays with model-based in silico evidence. METHODS: A two-step experimental design is followed. To start, we used free computational tools and online bioinformatics resources, including predicting gene function using a multiple association network integration algorithm (geneMania), the Kyoto Encyclopedia of Genes and Genomes, the Annotation, Visualization and Integrated Discovery (DAVID) database and the stimulator of interferon genes. Natural resistance-associated macrophage protein 1 (NRAMP1), Toll-like receptor 4 (TLR4), interferon-γ (IFNγ), immunoglobulin Y (IgY) and interleukin 8 (IL8) were among the five genes whose expression levels in liver, spleen, and cecum were evaluated at 1107 SE after 48 h of inoculation. This molecular study was developed in the second phase of research to validate the in silico observations. Next, we use five promising biomarkers for relative real-time polymerase chain reaction (PCR) quantification: TLR4, IL8, NRAMP1, IFNγ and IgY genes in two case and control assays. The 2-∆∆Ct Livak and Schmittgen method was used to compare the expression of genes in treated and untreated samples. This method normalizes the expression of the target gene to that of actin, an internal control and estimates the change in expression relative to the untreated control. Internal control was provided by the Beta actin gene. Next, statistically, the postdoc test was used for the evaluation of treatments using SAS version 9.4, and p values of 0.05 and 0.01 were chosen for significant level. RESULTS: Interestingly, the results of our study suggest the involvement of various factors in the host immune response to Salmonella. These include inducible nitric oxide synthase, NRAMP1, immunoglobulin light chain (IgL), transforming growth factor B family (TGFb2, TGFb3 and TGFb4), interleukin 2 (IL2), apoptosis inhibitor protein 1 (IAP1), TLR4, myeloid differentiation protein 2 (MD2), IFNγ, caspase 1 (CASP1), lipopolysaccharide-induced tumour necrosis factor (LITAF), cluster of differentiation 28 (CD28) and prosaposin (PSAP). The summary of gene ontology and related genes found for SE resistance was surprisingly comprehensive and covered the following topics: positive regulation of endopeptidase activity, interleukin-8 production, chemokine production, interferon-gamma production, interleukin-6 production, positive regulation of mononuclear cell proliferation and response to interferon-gamma. The role of these promising biomarkers in our networks against SE susceptibility is essentially confirmed by these results. After 48 h, the spleen showed significant expression of the tissue-specific gene expression patterns for NRAMP1 and IL8 in the cecum, spleen and liver. Based on this information, this report searches for resistance and susceptibility lineages in most genomic regions for SE. CONCLUSIONS: In conclusion, the development of an appropriate selection program to improve resistance to salmonellosis can be facilitated by a comprehensive understanding of the immune responses of the chicken immune system after SE exposure.

Non-coding RNAs as therapeutic targets in Parkinson's Disease: A focus on dopamine.

Parkinson's Disease is a highly complicated neurological disorder, with a key manifestation of loss of dopaminergic neurons. Despite the plethora of medicines that alleviate the symptoms, there is an urgent need for new treatments acting on the fundamental pathology of PD. Non-coding RNAs are becoming increasingly important in gene regulation and various cellular processes and are found to play a role in PD pathophysiology. This review analyzes the cross-talk of distinct ncRNAs with dopamine signaling. We attempt to constrain the various ncRNA networks that can activate dopamine production. First, we describe the deregulation of miRNAs that target dopamine receptors and have been implicated in PD. Next, we turn to the functions of lncRNAs in dopaminergic neurons and the connections to susceptibility genes for PD. Finally, we will analyze the novel circRNAs, such as ciRS-7, which may modulate dopamine-linked processes and serve as possible PD biomarkers. In this review, we describe recent progress in dopamine neuron revival to treat PD and the therapeutic potential of ncRNA. This review critically evaluates the available data, and we predict the role of some ncRNAs, such as PTBP1, to become candidate treatment targets in the future. Thus, this review aims to summarize the molecular causes for the deficit in dopamine signaling in PD and point to novel ncRNAs-linked therapeutic directions in neuroscience.

Investigating the genomic background of calving-related traits in Canadian Jersey cattle.

Traits related to calving have a significant impact on animal welfare and farm profitability in dairy production systems. Identifying genomic regions associated with calving traits could contribute to refining dairy cattle breeding programs and management practices in the dairy industry. Therefore, the primary objectives of this study were to estimate genetic parameters and perform genome-wide association studies (GWAS) and functional enrichment analyses for stillbirth, gestation length, calf size, and calving ease traits in North American Jersey cattle. A total of 40,503 animals with phenotypic records and 5,398 animals genotyped for 45,101 single nucleotide polymorphisms (SNPs) were included in the analyses. Genetic parameters were estimated based on animal models and Bayesian methods. The effects of SNPs were estimated using the Single-step Genomic Best Linear Unbiased Prediction (ssGBLUP) method. The heritability (standard error) estimates ranged from 0.01 (0.01) for stillbirths (SB) in heifers to 0.11 (0.01) for gestation length (GL) in cows. The genetic correlations ranged from -0.58 (0.11) between calving ease (CE) and SB in heifers to 0.44 (0.14) between calving ease and calf size (CZ) in cows. CE showed the highest genetic correlation between heifers and cows, 0.8 (0.22) respectively. The candidate genes identified, including MTHFR, SERPINA5, IGFBP3, and ZRANB1, are involved in key biological processes and metabolic pathways related to the studied traits. Reducing environmental variation and identifying novel indicators of reproduction traits in the Jersey breed are needed given the low heritability estimates for most traits evaluated in this study. In conclusion, this study provides a characterization of the genetic background of calving-related traits in Jersey cattle. The estimates obtained can be used to improve or build selection indexes in Jersey cattle breeding programs in North America.

Prioritization of candidate genes for major QTLs governing yield traits employing integrated multi-omics approach in rice (Oryza sativa L.).

Rapidly identifying candidate genes underlying major QTLs is crucial for improving rice (Oryza sativa L.). In this study, we developed a workflow to rapidly prioritize candidate genes underpinning 99 major QTLs governing yield component traits. This workflow integrates multiomics databases, including sequence variation, gene expression, gene ontology, co-expression analysis, and protein-protein interaction. We predicted 206 candidate genes for 99 reported QTLs governing ten economically important yield-contributing traits using this approach. Among these, transcription factors belonging to families of MADS-box, WRKY, helix-loop-helix, TCP, MYB, GRAS, auxin response factor, and nuclear transcription factor Y subunit were promising. Validation of key prioritized candidate genes in contrasting rice genotypes for sequence variation and differential expression identified Leucine-Rich Repeat family protein (LOC_Os03g28270) and cytochrome P450 (LOC_Os02g57290) as candidate genes for the major QTLs GL1 and pl2.1, which govern grain length and panicle length, respectively. In conclusion, this study demonstrates that our workflow can significantly narrow down a large number of annotated genes in a QTL to a very small number of the most probable candidates, achieving approximately a 21-fold reduction. These candidate genes have potential implications for enhancing rice yield.

GWAS Enhances Genomic Prediction Accuracy of Caviar Yield, Caviar Color and Body Weight Traits in Sturgeons Using Whole-Genome Sequencing Data.

Caviar yield, caviar color, and body weight are crucial economic traits in sturgeon breeding. Understanding the molecular mechanisms behind these traits is essential for their genetic improvement. In this study, we performed whole-genome sequencing on 673 Russian sturgeons, renowned for their high-quality caviar. With an average sequencing depth of 13.69×, we obtained approximately 10.41 million high-quality single nucleotide polymorphisms (SNPs). Using a genome-wide association study (GWAS) with a single-marker regression model, we identified SNPs and genes associated with these traits. Our findings revealed several candidate genes for each trait: caviar yield: TFAP2A, RPS6KA3, CRB3, TUBB, H2AFX, morc3, BAG1, RANBP2, PLA2G1B, and NYAP1; caviar color: NFX1, OTULIN, SRFBP1, PLEK, INHBA, and NARS; body weight: ACVR1, HTR4, fmnl2, INSIG2, GPD2, ACVR1C, TANC1, KCNH7, SLC16A13, XKR4, GALR2, RPL39, ACVR2A, ADCY10, and ZEB2. Additionally, using the genomic feature BLUP (GFBLUP) method, which combines linkage disequilibrium (LD) pruning markers with GWAS prior information, we improved genomic prediction accuracy by 2%, 1.9%, and 3.1% for caviar yield, caviar color, and body weight traits, respectively, compared to the GBLUP method. In conclusion, this study enhances our understanding of the genetic mechanisms underlying caviar yield, caviar color, and body weight traits in sturgeons, providing opportunities for genetic improvement of these traits through genomic selection.

Comparative Analysis of Transcriptomes Reveals Pathways and Verifies Candidate Genes for Clubroot Resistance in Brassica oleracea.

Clubroot, a soil-borne disease caused by Plasmodiophora brassicae, is one of the most destructive diseases of Brassica oleracea all over the world. However, the mechanism of clubroot resistance remains unclear. In this research, transcriptome sequencing was conducted on root samples from both resistant (R) and susceptible (S) B. oleracea plants infected by P. brassicae. Then the comparative analysis was carried out between the R and S samples at different time points during the infection stages to reveal clubroot resistance related pathways and candidate genes. Compared with 0 days after inoculation, a total of 4991 differential expressed genes were detected from the S pool, while only 2133 were found from the R pool. Gene function enrichment analysis found that the effector-triggered immunity played a major role in the R pool, while the pathogen-associated molecular pattern triggered immune response was stronger in the S pool. Simultaneously, candidate genes were identified through weighted gene co-expression network analysis, with Bol010786 (CNGC13) and Bol017921 (SD2-5) showing potential for conferring resistance to clubroot. The findings of this research provide valuable insights into the molecular mechanisms underlying clubroot resistance and present new avenues for further research aimed at enhancing the clubroot resistance of B. oleracea through breeding.

QTL Mapping and Candidate Gene Analysis for Starch-Related Traits in Tartary Buckwheat (Fagopyrum tataricum (L.) Gaertn).

Starch is the main component that determines the yield and quality of Tartary buckwheat. As a quantitative trait, using quantitative trait locus (QTL) mapping to excavate genes associated with starch-related traits is crucial for understanding the genetic mechanisms involved in starch synthesis and molecular breeding of Tartary buckwheat varieties with high-quality starch. Employing a recombinant inbred line population as research material, this study used QTL mapping to investigate the amylose, amylopectin, and total starch contents across four distinct environments. The results identified a total of 20 QTLs spanning six chromosomes, which explained 4.07% to 14.41% of the phenotypic variation. One major QTL cluster containing three stable QTLs governing both amylose and amylopectin content, qClu-4-1, was identified and located in the physical interval of 39.85-43.34 Mbp on chromosome Ft4. Within this cluster, we predicted 239 candidate genes and analyzed their SNP/InDel mutations, expression patterns, and enriched KEGG pathways. Ultimately, five key candidate genes, namely FtPinG0004897100.01, FtPinG0002636200.01, FtPinG0009329200.01, FtPinG0007371600.01, and FtPinG0005109900.01, were highlighted, which are potentially involved in starch synthesis and regulation, paving the way for further investigative studies. This study, for the first time, utilized QTL mapping to detect major QTLs controlling amylose, amylopectin, and total starch contents in Tartary buckwheat. The QTLs and candidate genes would provide valuable insights into the genetic mechanisms underlying starch synthesis and improving starch-related traits of Tartary buckwheat.

The mrp-3 gene is involved in haem efflux and detoxification in a blood-feeding nematode.

BACKGROUND: Haem is essential but toxic for metazoan organisms. Auxotrophic nematodes can acquire sufficient haem from the environment or their hosts in the meanwhile eliminate or detoxify excessive haem through tightly controlled machinery. In previous work, we reported a role of the unique transporter protein HRG-1 in the haem acquisition and homeostasis of parasitic nematodes. However, little is known about the haem efflux and detoxification via ABC transporters, particularly the multiple drug resistance proteins (MRPs). RESULTS: Here, we further elucidate that a member of the mrp family (mrp-3) is involved in haem efflux and detoxification in a blood-feeding model gastrointestinal parasite, Haemonchus contortus. This gene is haem-responsive and dominantly expressed in the intestine and inner membrane of the hypodermis of this parasite. RNA interference of mrp-3 resulted in a disturbance of genes (e.g. hrg-1, hrg-2 and gst-1) that are known to be involved in haem homeostasis and an increased formation of haemozoin in the treated larvae and lethality in vitro, particularly when exposed to exogenous haem. Notably, the nuclear hormone receptor NHR-14 appears to be associated the regulation of mrp-3 expression for haem homeostasis and detoxification. Gene knockdown of nhr-14 and/or mrp-3 increases the sensitivity of treated larvae to exogenous haem and consequently a high death rate (> 80%). CONCLUSIONS: These findings demonstrate that MRP-3 and the associated molecules are essential for haematophagous nematodes, suggesting novel intervention targets for these pathogens in humans and animals.

Association between mandibular prognathism and Matrilin-1, bone morphogenic protein, Tyr67Asn, homeobox protein hox-A2, Rho-GTPase activating protein, and Myosin 1H genes in the Indian population.

INTRODUCTION: Mandibular prognathism (MP) patients present with aesthetic concerns and functional issues, including difficulties in mastication and pronunciation. Studies revealed that mandibular prognathism had definitive Mendelian inheritance patterns. This study aimed to ascertain distinct genetic markers associated with mandibular prognathism in individuals of Indian descent, focusing on exploring the prevalent genetic variations associated with certain genes. This study sought to identify the association of the following gene markers with mandibular prognathism: 1) Matrilin-1 (MATN1) (rs1065755), 2) Bone morphogenic protein 3 (BMP-3) (Tyr67Asn), 3) Homeobox protein hox-A2 (HOXA2) (Val327Ile), 4) Rho-GTPase activating protein (ARHGAP 21) (Gly1121Ser), 5) Myosin 1H (MYO1H) (rs10850110).

Genome-wide association scan reveals the reinforcing effect of nano-potassium in improving the yield and quality of salt-stressed barley via enhancing the antioxidant defense system.

Salinity is one of the major environmental factor that can greatly impact the growth, development, and productivity of barley. Our study aims to detect the natural phenotypic variation of morphological and physiological traits under both salinity and potassium nanoparticles (n-K) treatment. In addition to understanding the genetic basis of salt tolerance in barley is a critical aspect of plant breeding for stress resilience. Therefore, a foliar application of n-K was applied at the vegetative stage for 138 barley accessions to enhance salt stress resilience. Interestingly, barley accessions showed high significant increment under n-K treatment compared to saline soil. Based on genome-wide association studies (GWAS) analysis, causative alleles /reliable genomic regions were discovered underlying improved salt resilience through the application of potassium nanoparticles. On chromosome 2H, a highly significant QTN marker (A:C) was located at position 36,665,559 bp which is associated with APX, AsA, GSH, GS, WGS, and TKW under n-K treatment. Inside this region, our candidate gene is HORVU.MOREX.r3.2HG0111480 that annotated as NAC domain protein. Allelic variation detected that the accessions carrying C allele showed higher antioxidants (APX, AsA, and GSH) and barley yield traits (GS, WGS, and TKW) than the accessions carrying A allele, suggesting a positive selection of the accessions carrying C allele that could be used to develop barley varieties with improved salt stress resilience.

Conformational variability in the D2 loop of Plasmodium Apical Membrane antigen 1.

Apical Membrane Antigen 1 (AMA1) plays a vital role in the invasion of the host erythrocyte by the malaria parasite, Plasmodium. It is thus an important target for vaccine and anti-malaria therapeutic strategies that block the invasion process. AMA1, present on the surface of the parasite, interacts with RON2, a component of the parasite's rhoptry neck (RON) protein complex, which is transferred to the erythrocyte membrane during invasion. The D2 loop of AMA1 plays an essential role in invasion as it partially covers the RON2-binding site and must therefore be displaced for invasion to proceed. Several structural studies have shown that the D2 loop is very mobile, a property that is probably important for the function of AMA1. Here we present three crystal structures of AMA1 from P. falciparum (strains 3D7 and FVO) and P. vivax (strain Sal1), in which the D2 loop could be largely traced in the electron density maps. The D2 loop of PfAMA1-FVO and PvAMA1 (as a complex with a monoclonal antibody Fab) has a conformation previously noted in the P. knowlesi AMA1 structure. The D2 loop of PfAMA1-3D7, however, reveals a novel conformation. We analyse the conformational variability of the D2 loop in these structures, together with those previously reported. Three different conformations can be distinguished, all of which are highly helical and show some similarity in their secondary structure organisation. We discuss the significance of these observations in the light of the flexible nature of the D2 loop and its role in AMA1 function.

Identification of Salt-Stress-Responding Genes by Weighted Gene Correlation Network Analysis and Association Analysis in Wheat Leaves.

The leaf is not only the main site of photosynthesis, but also an important organ reflecting plant salt tolerance. Discovery of salt-stress-responding genes in the leaf is of great significance for the molecular improvement of salt tolerance in wheat varieties. In this study, transcriptome sequencing was conducted on the leaves of salt-tolerant wheat germplasm CH7034 seedlings at 0, 1, 6, 24, and 48 h after NaCl treatment. Based on weighted gene correlation network analysis of differentially expressed genes (DEGs) under salt stress, 12 co-expression modules were obtained, of which, 9 modules containing 4029 DEGs were related to the salt stress time-course. These DEGs were submitted to the Wheat Union database, and a total of 904,588 SNPs were retrieved from 114 wheat germplasms, distributed on 21 wheat chromosomes. Using the R language package and GAPIT program, association analysis was performed between 904,588 SNPs and leaf salt injury index of 114 wheat germplasms. The results showed that 30 single nucleotide polymorphisms (SNPs) from 15 DEGs were associated with salt tolerance. Then, nine candidate genes, including four genes (TaBAM, TaPGDH, TaGluTR, and TaAAP) encoding enzymes as well as five genes (TaB12D, TaS40, TaPPR, TaJAZ, and TaWRKY) encoding functional proteins, were identified by converting salt tolerance-related SNPs into Kompetitive Allele-Specifc PCR (KASP) markers for validation. Finally, interaction network prediction was performed on TaBAM and TaAAP, both belonging to the Turquoise module. Our results will contribute to a further understanding of the salt stress response mechanism in plant leaves and provide candidate genes and molecular markers for improving salt-tolerant wheat varieties.