Search Results (54)

Nuclear receptor subfamily 4 group A member 1 (NR4A1) plays a crucial role in regulating various physiological processes. As gene mining for reproductive traits is essential, this study aimed to investigate the mRNA expression, genetic variation, and association of the NR4A1 gene with goat litter size. We examined the mRNA expression levels of the NR4A1 gene in eight different tissues of female Shaanbei White Cashmere (SBWC) goats (n = 6). Then, a novel 11-bp insertion/deletion (InDel) variant was genotyped in 1136 SBWC goats, 87 SNPs were identified through resequencing (n = 120), and selection signal analysis was undertaken. The NR4A1 gene was expressed in all examined tissues, including the ovary and the oviduct, suggesting its role in goat reproduction. Both the 11-bp InDel and 13 SNP variants showed significant association with litter size. Additionally, four potential transcription factor binding sites were predicted within the insertion allele, which may contribute to increased litter size. Selection signal analysis revealed strong pressure on the NR4A1 gene region in the Cashmere goat population. These findings suggest that NR4A1 is a promising candidate gene for improving litter size in goats and could be utilized as a genetic marker in breeding programs. Full article

Background/Objectives: MicroRNAs (miRNAs) are molecules involved in biological regulation processes, including type 2 diabetes and its complications development. Single nucleotide polymorphisms (SNPs) can alter miRNA mechanisms, resulting in loss or gain effects. VEGFA is recognized for its role in angiogenesis. However, its overexpression can lead to deleterious effects, such as disorganized and inefficient vasculature. Under hyperglycemic conditions, VEGFA expression seems to increase, which may contribute to the development of microvascular and macrovascular diabetic complications. Several miRNAs are associated with VEGFA regulation and seem to act in the prevention of dysregulated expression. This study aimed to investigate SNPs in miRNA regions related to the loss effect in VEGFA regulation, examining their frequency and potential physiological effects in the development of diabetic complications. Methods: VEGFA-targeting miRNAs were identified using the R package multimiR, with validated and predicted results. Tissue expression analysis and SNP search were data-mined with Python 3 for miRNASNP-v3 SNP raw databases. Allele frequencies were obtained from dbSNP. The miRNA–mRNA interaction comparison was obtained in the miRmap tool through Python 3. MalaCards were used to infer physiological disease association. Results: The variant rs371699284 was selected in hsa-miR-654-3p among 103 potential VEGFA-targeting miRNAs. This selected SNP demonstrated promising results in bioinformatics predictions, tissue-specific expression, and population frequency, highlighting its potential role in miRNA regulation and the resulting loss in VEGFA-silencing efficiency. Conclusions: Our findings suggest that carriers of rs1238947970 may increase susceptibility to diabetic microvascular and macrovascular complications. Furthermore, in vitro and in silico studies are necessary to better understand these processes. Full article

Identifying major blast resistance genes in Oryza sativa L. genotypes is key to enhancing and maintaining the resistance. Observing rice varieties with durable resistance to blast has become a potential target in rice breeding programs. In this study, an evaluation was conducted during 2020 and 2021 on ten Egyptian and introduced varieties. First, a field experiment was conducted in a randomized complete block design with three replications, and it was found that the Egyptian cultivar Sakha 101 had the highest crop grain yields (53.27 g). The Spanish varieties Hispagrán and Puebla were the earliest (110 and 108 days, respectively) as well as the highest in 1000-grain yield, giving them priority as donors for these traits; however, they had the lowest mean values in the number of panicles. Second, these cultivars were subjected to eighteen isolates from five strains of Pyricularia oryzae (IH, IC, ID, IE, and II). The Egyptian varieties Giza 177, Giza 179, Sakha 106, Giza 182, GZ1368-5-5-4, and GZ6296 were 100% resistant, while Hispagrán’s resistance was 16.6%, followed by Sakha 101 with 27.8%. To gain insight into the ten varieties, we used STS, SCAR, and CAPS markers to detect and mine alleles for major blast broad-spectrum resistance genes Pi2, Pi9, and Pita2. In the context of considering gene pyramiding as an effective strategy for achieving broad durable spectrum resistance to blast, molecular profiling was also conducted on eighteen F2 single plants obtained from the hybridization of Giza 177 (resistant) × Puebla (susceptible) varieties. Also, eighteen F2 single plants were obtained from Giza 177 × Hispagrán (highly susceptible) varieties. Conducting a molecular scan with STS dominant marker YL153/YL154 was performed on ten cultivars to detect the presence of the Pita2 gene, which conferred a unique band in Puebla. By doing a scan of the 18 second-generation plants derived from Giza 177 × Puebla, 11 individual plants of the 18 plants obtained a band, which was transferred from Puebla. F2 plants obtained from Giza 177 × Puebla amplified with CAPS marker RG64-431/RG64-432 had higher numbers of Pi2 alleles, while F2 plants of Giza 177 × Hispagrán cross-amplified with SCAR marker linked to Pi9 exceeded their parents more. Our results have revealed that molecular markers played an essential role in determining the direction of evolution for blast resistance traits. Full article

Guar [Cyamopsis tetragonoloba (L.) Taub] was domesticated in India and Pakistan. It is mainly self-pollinated, bushy, and deeply tap-rooted. Guar seed endosperm contains galactomannan gum, which is used in many food products, pharmaceuticals, cosmetics, explosives, meat products, and pet foods, and in the textile industry, yet its genetic diversity remains largely underexplored. Using 7000 high-quality single nucleotide polymorphism (SNP) markers acquired from genotyping by sequencing (GBS), we analyzed the genetic diversity and population structure in 225 guar accessions from India, Pakistan, and the United States. Structure Harvester revealed that K = 3 had the best delta K, whereas K = 2 had the second-highest delta K. Three major genetic clusters (K = 3) were identified using population structure analysis, utilizing an admixture model: 156 accessions (69.3%) were classified into Q1, 23 accessions (10.2%) in Q2, and 16 accessions (7.1%) in Q3. The remaining 30 accessions (13.3%) were included in the admixture. In all three of the subpopulations at K = 3, most of the guar accessions came from India. We also found that these clusters mostly correlated with geographic origins. Results showed that the Q2 and Q3 subpopulations included only guar accessions from India. Genetic resources from Q2 and Q3 may represent an untapped reservoir for introducing beneficial variety into the U.S. breeding populations. This genetic diversity and population structure analysis of the guar gene pool will be of interest to conduct allele mining and donor parent selection for the development of new and better guar germplasm for desired traits. Full article

Needles play key roles in photosynthesis and branch growth in Larix olgensis. However, genetic variation and SNP marker mining associated with needle and branch-related traits have not been reported yet. In this study, we examined 131 samples of unrelated genotypes from L. olgensis provenance trails. We investigated phenotypic data for seven needle and one branch-related traits before whole genome resequencing (WGRS) was employed to perform a genome-wide association study (GWAS). Subsequently, the results were used to screen single nucleotide polymorphism (SNP) loci that were significantly correlated with the studied traits. We identified a total of 243,090,868 SNP loci, and among them, we discovered a total of 161 SNP loci that were significantly associated with these traits using a general linear model (GLM). Based on the GWAS results, Kompetitive Allele-Specific PCR (KASP), designed based on the DNA of population samples, were used to validate the loci associated with L. olgensis phenotypes. In total, 20 KASP markers were selected from the 161 SNPs loci, and BSBM01000635.1_4693780, BSBM01000114.1_5114757, and BSBM01000114.1_5128586 were successfully amplified, were polymorphic, and were associated with the phenotypic variation. These developed KASP markers could be used for the genetic improvement of needle and branch-related traits in L. olgensis. Full article

Genetic markers are powerful tools for understanding genetic diversity and the molecular basis of traits, ushering in a new era of molecular breeding in crops. Over the past 50 years, DNA markers have rapidly changed, moving from hybridization-based and second-generation-based to sequence-based markers. Simple sequence repeats (SSRs) are the ideal markers in plant breeding, and they have numerous desirable properties, including their repeatability, codominance, multi-allelic nature, and locus specificity. They can be generated from any species, which requires prior sequence knowledge. SSRs may serve as evolutionary tuning knobs, allowing for rapid identification and adaptation to new circumstances. The evaluations published thus far have mostly ignored SSR polymorphism and gene evolution due to a lack of data regarding the precise placements of SSRs on chromosomes. However, NGS technologies have made it possible to produce high-throughput SSRs for any species using massive volumes of genomic sequence data that can be generated fast and at a minimal cost. Though SNP markers are gradually replacing the erstwhile DNA marker systems, SSRs remain the markers of choice in orphan crops due to the lack of genomic resources at the reference level and their adaptability to resource-limited labor. Several bioinformatic approaches and tools have evolved to handle genomic sequences to identify SSRs and generate primers for genotyping applications in plant breeding projects. This paper includes the currently available methodologies for producing SSR markers, genomic resource databases, and computational tools/pipelines for SSR data mining and primer generation. This review aims to provide a ‘one-stop shop’ of information to help each new user carefully select tools for identifying and utilizing SSRs in genetic research and breeding programs. Full article

Coconut (Cocos nucifera L.) is an important agricultural commodity with substantial economic and nutritional value, widely used for various products, including coconut water. The sweetness is an important quality trait of coconut water, which is influenced by genetic and environmental factors. In this study, we utilized next-generation sequencing to identify genetic variations in the coconut genome associated with the sweetness of coconut water. Whole-genome resequencing of 49 coconut accessions, including diverse germplasm and an F₂ population of 81 individuals, revealed ~27 M SNPs and ~1.5 M InDels. Sugar content measured by °Bx was highly variable across all accessions tested, with dwarf varieties generally sweeter. A comprehensive analysis of the sugar profiles revealed that sucrose was the major sugar contributing to sweetness. Allele mining of the 148 genes involved in sugar metabolism and transport and genotype–phenotype association tests revealed two significant SNPs in the hexose carrier protein (Cnu01G018720) and sucrose synthase (Cnu09G011120) genes associated with the higher sugar content in both the germplasm and F₂ populations. This research provides valuable insights into the genetic basis of coconut sweetness and offers molecular markers for breeding programs aimed at improving coconut water quality. The identified variants can improve the selection process in breeding high-quality sweet coconut varieties and thus support the economic sustainability of coconut cultivation. Full article

Grain size is a primary determinant of grain weight, which is one of the three essential components of rice grain yield. Mining the genes that control grain size plays an important role in analyzing the regulation mechanism of grain size and improving grain appearance quality. In this study, two closely linked quantitative trait loci (QTL) controlling grain size, were dissected and fine-mapped in a 515.6-kb region on the long arm of chromosome 10 by using six near isogenic line populations. One of them, qGS10.2, which controlled 1000 grain weight (TGW) and grain width (GW), was delimited into a 68.1-kb region containing 14 annotated genes. The Teqing allele increased TGW and GW by 0.17 g and 0.011 mm with the R² of 12.7% and 11.8%, respectively. The other one, qGL10.2, which controlled grain length (GL), was delimited into a 137.3-kb region containing 22 annotated genes. The IRBB52 allele increased GL by 0.018 mm with the R² of 6.8%. Identification of these two QTL provides candidate regions for cloning of grain size genes. Full article

Fusarium head blight (FHB) can cause serious yield loss and significant mycotoxin contamination, which seriously threaten global food security and safety. Breeding stable and durable cultivars that are resistant to FHB is one of the most effective approaches to controlling this disease. Fhb1 is a well-known genetic locus for FHB resistance, but its resistance is not always effective across diverse wheat genetic backgrounds. To achieve a high and durable level of resistance, the discovery and use of additional quantitative trait loci (QTL) for FHB resistance are essentially needed in breeding programs. In this study, two independent wheat natural populations of different origins were used for mining resistance QTL with a major and stable effect. Using genome-wide association analysis (GWAS), a total of 58 marker–trait associations (MTAs) on chromosomes 1A, 2B, 3A, 3B, 4A, 4B, 4D, 5A, 5B, 5D, 6A, 6B, 6D, 7A and 7B were found to be significant for type II resistance to FHB. These 58 MTAs represent 24 putative QTL. Among these QTL, Qfhb.yzu.3B.1 and Qfhb.yzu.6B.3 were stably detected in the two natural populations across three consecutive experimental years. The favorable haplotypes at the two QTL could significantly reduce the disease severity, either individually or in combination. These two QTL are also additive to Fhb1 in cultivars with different genetic backgrounds. Breeder-friendly markers were designed to differentiate the contrasting alleles at these two loci, thus proving very useful for improving FHB resistance in wheat by marker-assisted selection. Full article

Teucrium montanum L. and T. capitatum L. are two plant species with overlapping distribution in the Balkan Peninsula, especially in Croatia, where several occurrences of their putative hybrid species T. × rohlenae have been recorded. Next-generation sequencing of both species and de novo assembly was carried out resulting in 120 contigs for T. montanum and 1685 contigs for T. capitatum assembled. The Dig-up primers pipeline was used for SSR mining of both assemblies, applying different criteria that resulted in 112 SSR candidates for testing. A subset of 41 SSRs was selected and after two rounds of testing, twelve SSRs were developed and characterized. A total of 232 alleles were detected with 5 to 29 alleles per locus, based on the test sample. The genetic diversity analysis of three Teucrium taxa from a single location revealed a higher level of diversity in T. montanum than in T. capitatum with intermediate values for the hybrid species. The NeighborNet diagram and genetic structure analysis grouped the taxa into two separate clusters, the first of which consisted exclusively of T. montanum, while the other was composed of intermixed T. capitatum and T. × rohlenae individuals. The availability of SSR markers for two Teucrium taxa will allow in-depth analysis of genetic diversity and structure, as well as molecular identification of their putative hybrids in the future. Full article

Polymorphisms in the human ABO gene determine the major blood classification system based on the three well-known forms: A; B; and O. In pigs that carry only two main alleles in this gene (A and O), we still need to obtain a more comprehensive distribution of variants, which could also impact its function. In this study, we mined more than 500 whole-genome sequencing datasets to obtain information on the ABO gene in different Suidae species, pig breeds, and populations and provide (i) a comprehensive distribution of the A and O alleles, (ii) evolutionary relationships of ABO gene sequences across Suidae species, and (iii) an exploratory evaluation of the effect of the different ABO gene variants on production traits and blood-related parameters in Italian Large White pigs. We confirmed that allele O is likely under balancing selection, present in all Sus species investigated, without being fixed in any of them. We reported a novel structural variant in perfect linkage disequilibrium with allele O that made it possible to estimate the evolutionary time window of occurrence of this functional allele. We also identified two single nucleotide polymorphisms that were suggestively associated with plasma magnesium levels in pigs. Other studies can also be constructed over our results to further evaluate the effect of this gene on economically relevant traits and basic biological functions. Full article

Cyclic nucleotide-gated ion channel (CNGC) gene regulation plays important roles in plant immune and abiotic stress response. Here, we identified 16 CNGC genes in rice (Oryza sativa). Then, we analyzed their chromosomal location, physicochemical properties, subcellular localization, gene functional interaction network, cis-acting elements, phylogenetic relationships, collinearity, expression in tissues under normal conditions and abiotic stresses, and geng-cds-haplotype (gcHap) diversity in 3010 gcHaps. As a result, OsCNGC3 (Os06g0527300) was identified as a gene different from previous report, and OsCNGC genes were found to play important roles in rice population differentiation and rice improvement. Our results revealed their very strong differentiation between subspecies and populations, important roles in response to abiotic stresses, as well as strong genetic bottleneck effects and artificial selection of gcHap diversity in the modern breeding process of Xian (indica) and Geng (japonica) populations. The results also suggested that natural variations in most rice CNGC loci are potentially valuable for improving rice productivity and tolerance to abiotic stresses. The favorable alleles at the CNGC loci should be explored to facilitate their application in future rice improvement. Full article

Panicle length (PL) is an important trait closely related to rice yield. More than 200 quantitative trait loci (QTL) for PL have been identified, but only a few can be used for breeding. Dongxiang wild rice contains many excellent genes, and mining favorable PL-related QTL from DXWR is helpful for rice variety improvement. Here, we report a QTL analysis for PL using a recombinant inbred line population consisting of 143 individuals derived from a cross between Dongxiang wild rice and indica cultivar Guangluai 4. A total of four QTL (qPL1-37, qPL4-26, qPL7-25, and qPL8-4) for PL were identified and located on chromosomes 1, 4, 7, and 8. Among them, qPL7-25 showed the largest F-value of 32.32 and 16.80, and the QTL explained 18.66% and 13.06% of the phenotypic variation of Dongxiang wild rice in Hangzhou and Hainan, respectively. QTL mapping was performed using a population of 1800 individuals derived from the crossing of NIL-qPL7-25 and GLA4. qPL7-25 was located between two InDel markers, InDel-24591 and InDel-24710, in a 119 kb region containing 14 predicted genes. Using Sanger sequencing and qRT-PCR analysis, we propose that LOC_Os07g41200 is probably a new allele of the well-known GL7 gene, which affects grain length and appearance quality in rice. These results provide new insights into the use of molecular marker-assisted selection for breeding high-yielding and high-quality rice varieties. Full article

Maruca vitrata (Fabricius) is an invasive insect pest capable of causing enormous economic losses to a broad spectrum of leguminous crops. Microsatellites are valuable molecular markers for population genetic studies; however, an inadequate number of M. vitrata microsatellite loci are available to carry out population association studies. Thus, we utilized this insect’s public domain databases for mining expressed sequence tags (EST)-derived microsatellite markers. In total, 234 microsatellite markers were identified from 10053 unigenes. We discovered that trinucleotide repeats were the most predominant microsatellite motifs (61.53%), followed by dinucleotide repeats (23.50%) and tetranucleotide repeats (14.95%). Based on the analysis, twenty-five markers were selected for validation in M. vitrata populations collected from various regions of India. The number of alleles (Na), observed heterozygosity (Ho), and expected heterozygosity (He) ranged from 2 to 5; 0.00 to 0.80; and 0.10 to 0.69, respectively. The polymorphic loci showed polymorphism information content (PIC), ranging from 0.09 to 0.72. Based on the genetic distance matrix, the unrooted neighbor-joining dendrogram differentiated the selected populations into two discrete groups. The SSR markers developed and validated in this study will be helpful in population-level investigations of M. vitrata to understand the gene flow, demography, dispersal patterns, biotype differentiation, and host dynamics. Full article

WRKY proteins are an important group of transcription factors (TFs) gene family and were identified primarily in plants. WRKY TFs play vital roles in modulating gene expression when plants face detrimental effects due to the environment. In the current study, we focused on using the mandarin citrus (Citrus reticulata) genome to understand the impact of the WRKY gene family on the extraction of alleles mining in mandarins. The mining of the C. reticulata genome identified 46 CrWRKY genes that were classified into three main groups (G1, G2, and G3) further with five subclasses (IIa, IIb, IIc, Iid, and IIe) in the G2 group, and all were presented on 29 scaffolds representing numerous segmental duplications of 100% events established. Multiple sequence analysis predicted the presence of the “WRKYGQK” domain and metal-chelating zinc-finger motif C₂H₂ in 45 genes, while the “WRKYGQK” domain was replaced with “WRKYGKK” only in CrWRKY20. The comparative relationship of CrWRKY with other plant species using dual synteny analysis revealed that the divergence between C. reticulata and C. grandis occurred after the evolutionary divergence of C. clementine, C. sinensis, C. medica, and C. ichangensis. The possible functions of the CrWRKY genes in mitigating environmental effects were predicted using cis-regulatory elements analysis and in silico RNAseq analysis, for the development of plants. These results provide a robust platform and absence of knowledge for the functional identification from key genes of CrWRKY genes in the mandarin for the possible use to improve key desirable agronomic and consumer-driven fruit quality traits in mandarins and related species. Full article