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The major histocompatibility complex (MHC) plays a critical role in the immune response against pathogens. Its high polymorphism is thought to be mainly the consequence of host‐pathogen co‐evolution, but elucidating the mechanism(s) driving MHC evolution remains challenging for natural populations. We investigated the diversity of MHC class II genes in a wild population of pied flycatchers Ficedula hypoleuca and tested its associations with two key components of individual fitness: lifetime reproductive success and survival. Among 180 breeding adults in our study population, we found 182 unique MHC class II exon 2 alleles. The alleles showed a strong signal of positive selection and grouped into nine functional supertypes based on physicochemical properties at the inferred antigen‐binding sites. Three supertypes were found in > 98% of the sampled individuals, indicating that they are nearly fixed in the population. We found no rare supertypes in the population, as all supertypes were present in > 70% of individuals. Three supertypes were related to different components of individual fitness: two were associated with lower offspring production over time, while the third was positively associated with survival. Overall, the substantial allelic and functional diversity and the relationship between specific supertypes and fitness are in accordance with the notion that balancing selection maintains MHC class II diversity in the study population, possibly with fluctuating selection as the underlying mechanism. The absence of rare supertypes in the population suggests that the balancing selection is not driven by rare‐allele advantage. [ABSTRACT FROM AUTHOR]

Rich materials can provide more opportunities for exploring the mechanisms of speciation driven by sexual selection. Being the fastest‐evolving arthropods to date, the sword‐tailed crickets of Nudilla Gorochov, 1988 (= Laupala Otte, 1994) have rapidly diverged primarily due to the variability of their calling songs (sexual signals). In addition, they also exhibit morphological conservatism, with little variation between species. Similar circumstances can be seen in tree crickets (Oecanthinae), which have conservative morphology and a diverse range of song variations. Thus, we believe that tree crickets could serve as a model for research on sexual selection since they share a similar evolutionary history and mode of differentiation with Nudilla. However, due to the improper methods in analyzing the calling songs and nearly identical morphological features between taxa, there are many problems with the taxonomy of Oecanthinae in China. To solve these problems, we conducted an integrative taxonomic study of Chinese Oecanthinae based on comparative morphology, species delimitation, acoustical analysis, and phylogenetic analysis. This study recognized 12 Oecanthinae species in China, including four new species, and confirmed one new synonym and two misidentifications. Meanwhile, we confirmed the morphological stability of Oecanthinae, and revealed that variation in color, size, and morphology may be intraspecific polymorphism, which sometimes does not reflect the species relationships. The result indicates that the acoustic parameter freq.median can be used for efficient and accurate species delimitation in Oecanthinae. We speculate that incomplete species divergence leads to complexity in species relationships at the genetic level of Oecanthinae. The conservation of morphological characters, the interspecificity of songs and the complexity of species relationships suggest that sexual selection have played a role in the evolution of Oecanthinae. Our study resolves some systematic and taxonomic problems of Oecanthinae, clarifies the species relationships of Oecanthinae in China, and provides clues for expanding the cricket groups to be used in speciation studies. [ABSTRACT FROM AUTHOR]

Stripes and bands are common colour patterns in snakes. Some species are known to exhibit colour polymorphism and that includes expressing it in the bands and stripes. Bridal snake, Dryocalamus is a medium‐sized arboreal snake in South to Southeast Asia and most species of the genus are banded, but including two striped species. In Borneo, banded D. subannulatus and striped D. tristrigatus occur sympatrically and the two species are similar morphologically except for their colour patterns. We hypothesized the two species in Borneo exhibit a significant colour dimorphism of one species and conducted morphological and genetical analysis to test the hypothesis. Morphological examinations revealed that D. subannulatus and D. tristrigatus are not distinguishable in Borneo by scalation. Mitochondrial phylogenetic analysis and nuclear SNP analysis showed D. subannulatus and D. tristrigatus from Borneo formed clades or clusters by region not by species. Dryocalamus subannulatus and D. tristrigatus in Borneo are morphologically and genetically indistinguishable and Bornean D. subannulatus should be treated as a colour morph of D. tristrigatus. This is a rare example of sympatrically distinct banded/striped dimorphism in snakes. Relative abundance of banded/striped morph of the genus is probably different depending on region, and any ecological factor may contribute to it. [ABSTRACT FROM AUTHOR]

ABSTRACT Introduction Methods Results Conclusions The link between DNA repair gene polymorphisms and cancer susceptibility has gained significant attention. Thus, we investigated the impact of base excision repair (BER) gene polymorphisms on acute myeloid leukemia (AML) risk and pathogenesis.In total, 106 patients with AML and 191 healthy controls were included in the study, wherein polymorphisms in four BER genes (APEX1, MUTYH, OGG1, and XRCC1) were examined.Notably, the APEX1‐656 T>G polymorphism exhibited a significant association with AML risk in the recessive (TT vs. TG + GG) (p = 0.046) and co‐dominant models (TT vs. GG) (p = 0.02). Assessing APEX1 expression levels, APEX1 expression was elevated in the bone marrow of patients with AML compared with that in controls (p = 0.02). Subsequently, we compared the percentages of CD34+ cells between the APEX1 high or low expression groups, revealing a significant difference (high vs. low = 29.9% vs. 11.5%, p = 0.01). Additionally, we observed reduced APEX1 expression in HL60 cells differentiated with all‐trans retinoic acid (p < 0.001). We hypothesized that APEX1 expression could correlate with stemness and analyzed its expression in stem and differentiated cells.In the GSE48558 dataset, AML cells and normal CD34+ cells expressed APEX1 at higher levels than did granulocytes (p < 0.01). Functional experiments revealed that APEX1 knockdown led to a reduction in AML cell proliferation. These findings indicated that APEX1 polymorphisms were a potential risk factor for AML and highlighted the important role of APEX1 in regulating AML cell differentiation and proliferation. [ABSTRACT FROM AUTHOR]

ABSTRACT Organelle genomes serve as crucial datasets for investigating the genetics and evolution of plants and animals, genome diversity, and species identification. To enhance the collection, analysis, and visualisation of such data, we have developed a novel open‐source software tool named Organelle Genome Utilities (OGU). The software encompasses three modules designed to streamline the handling of organelle genome data. The data collection module is dedicated to retrieving, validating and organising sequence information. The evaluation module assesses sequence variance using a range of methods, including novel metrics termed stem and terminal phylogenetic diversity. The primer module designs universal primers for downstream applications. Finally, a visualisation pipeline has been developed to present comprehensive insights into organelle genomes across different lineages rather than focusing solely on individual species. The performance, compatibility and stability of OGU have been rigorously evaluated through benchmarking with four datasets, including one million mixed GenBank records, plastid genomic data from the Lamiaceae family, mitochondrial data from rodents, and 308 plastid genomes sourced from various angiosperm families. Based on software capabilities, we identified 30 plastid intergenic spacers. These spacers exhibit a moderate evolutionary rate and offer practical utility comparable to coding regions, highlighting the potential applications of intergenic spacers in organelle genomes. We anticipate that OGU will substantially enhance the efficient utilisation of organelle genomic data and broaden the prospects for related research endeavours. [ABSTRACT FROM AUTHOR]

ABSTRACT This study aims to investigate the association of rs11203366, rs11203367, rs874881, rs2240340 and rs1748033 polymorphisms of protein‐arginine deiminase type 4 (PADI4) gene with the risk of rheumatoid arthritis (RA) through a meta‐analysis that was followed with a bioinformatics approach. The data were collected from reputable articles and underwent quantitative analysis, followed by in silico analysis using some bioinformatics tools. The results showed that rs874881 polymorphism in Latino (G vs. C: OR = 1.35, 95% CI = 1.11–1.65, p = 0.003; GG + CG vs. CC: OR = 2.02, 95% CI = 1.41–2.89, p = 0.0001; CG vs. CC + GG: OR = 1.38, 95% CI = 1.04–1.83, p = 0.027; GG vs. CC: OR = 2.09, 95% CI = 1.35–3.23, p = 0.001; CG vs. CC: OR = 1.98, 95% CI = 1.36–2.87, p = 0.00033) and rs1748033 in Caucasian population (T vs. C: OR = 1.25, 95% CI = 1.07–1.45, p = 0.005; TT vs. CT + CC: OR = 1.34, 95% CI = 1.09–1.64, p = 0.005, TT + CT vs. CC: OR = 1.26, 95% CI = 1.09–1.44, p = 0.001; TT vs. CC: OR = 1.59, 95% CI = 1.13–2.23, p = 0.007; CT vs. CC: OR = 1.20, 95% CI: 1.04–1.39, p = 0.015) are associated with increased risk of RA. Moreover, rs11203366 (G vs. A: OR = 1.46, 95% CI = 1.19–1.78, p = 0.0002, GG vs. AG + AA: OR = 1.42, 95% CI = 1.01–2.01, p = 0.043; GG + AG vs. AA: OR = 2.03, 95% CI = 1.45–2.86, p = 0.00004; GG vs. AA: OR = 2.29, 95% CI = 1.49–3.51, p = 0.0002; AG vs. AA: OR = 1.93, 95% CI = 1.35–2.76, p = 0.0003) and rs11203367 (T vs. C: OR = 1.50, 95% CI = 1.23–1.83, p = 0.00007; TT vs. CT + CC: OR = 1.56, 95% CI = 1.12–2.18, p = 0.009; TT + CT vs. CC: OR = 2.02, 95% CI = 1.43–2.84, p = 0.00007, TT vs. CC: OR = 2.43, 95% CI = 1.59–3.71, p = 0.0004; CT vs. CC: OR = 1.86, 95% CI = 1.30–2.68, p = 0.0007) had an impact in the Latino population. Bioinformatics tools showed the effect of these polymorphisms on gene function. These findings suggest that rs11203366, rs11203367, rs874881 and rs1748033 polymorphisms may be genetic risk factors for RA. Moreover, differences between populations suggest that ethnicity may play an important role in the effect of these polymorphisms on RA risk. [ABSTRACT FROM AUTHOR]

ABSTRACT This study sought to investigate the association between interleukin‐10 (IL10) polymorphisms and susceptibility to Sjögren's syndrome. A systematic search of the Medline, Embase and Web of Science databases was conducted to identify relevant articles from inception to April 2024. No restrictions were placed on race, ethnicity or geographic area, but only studies published in English were included. A meta‐analysis was conducted to evaluate the association among the IL10‐1082 G/A (rs1800896), ‐819 C/T (rs1800871) and ‐592 C/A (rs1800872) polymorphisms, as well as their haplotypes and the risk of developing Sjögren's syndrome. The included studies involved 998 Sjögren's syndrome patients and 1576 controls. Ten studies were included in the meta‐analysis. Meta‐analysis of the IL10‐1082 G/A polymorphism revealed no significant association with Sjögren's syndrome (odds ratio [OR] = 1.115, 95% confidence interval [CI]: 0.888–1.401, p = 0.343), with stratification by ethnicity yielding consistent results for Europeans and Latin Americans. Similarly, the IL10‐819 C/T polymorphism was not associated with Sjögren's syndrome in any study subjects (OR = 0.859, 95% CI: 0.648–1.138, p = 0.290). The IL10‐592 C allele also exhibited no association with Sjögren's syndrome (OR = 1.131, 95% CI: 0.776–1.646, p = 0.522). However, the GCC carrier status demonstrated a significant association with Sjögren's syndrome across all study subjects (OR = 1.496, 95% CI: 1.200–1.865, p < 0.001), particularly in Europeans (OR = 1.444, 95% CI: 1.085–1.921, p = 0.012) and Latin Americans (OR = 1.324, 95% CI: 1.115–2.366, p = 0.012). A significant protective effect of the homozygous ATA/ATA haplotype on Sjögren's syndrome was found in Europeans (OR = 0.320, 95% CI: 0.121–0.846, p = 0.022).This meta‐analysis indicates a significant link between carrying the GCC haplotype of the IL10‐1082 G/A, ‐819 C/T and ‐592 C/A polymorphisms and an increased susceptibility to Sjögren's syndrome. Conversely, the homozygous ATA/ATA haplotype appears to confer protection against the risk of Sjögren's syndrome, particularly in European populations. [ABSTRACT FROM AUTHOR]

A recent publication describing the assembly of the Y chromosomes of 43 males was remarkable not only for its ambitious technical scope but also for the startling suggestion that the boundary of the pseudoautosomal region 1 (PAR1), where the human X and Y chromosomes engage in crossing-over during male meiosis, lies 500 kb distal to its previously reported location. Where is the boundary of the human PAR1? We first review the evidence that mapped the PAR boundary, or PAB, before the human genome draft sequence was produced, then examine post-genomic datasets for evidence of crossing-over between the X and Y, and lastly re-examine contiguous sequence assemblies of the PAR-NPY boundary to see whether they support a more distal PAB. We find ample evidence of X-Y crossovers throughout the 500 kb in question, some as close as 246 bp to the previously reported PAB. Our new analyses, combined with previous studies over the past 40 years, provide overwhelming evidence to support the original position and narrow the probable location of the PAB to a 201-bp window. [Display omitted] Controversy has arisen regarding a landmark on the human sex chromosomes—the pseudoautosomal boundary—with recent analyses suggesting a location 500 kb distal to that reported in 1989. Our multifaceted analyses of the available data consistently validate the original position, narrowing the location of the boundary to a 201-bp window. [ABSTRACT FROM AUTHOR]

Stinging nettle, Urtica dioica L., is a widely distributed subdioecious long‐rhizomatous plant. Within a single population growing in the territory of the Zvenigorod Biological Station of Lomonosov Moscow State University, eight plots were selected in stinging nettle thickets to study the variability of the sexual reproductive part in U. dioica depending on internal and external factors. As monoecious ramets are relatively common in the studied population, four gender forms were distinguished based on the ratio of male and female flowers. On 156 ramets of different gender forms and 36 genets, it was shown that predominantly male plants are shorter, while predominantly female plants have larger and more widely spread inflorescences compared to other gender forms. The pubescence type (spreading or appressed unicellular hairs) shows the greatest repeatability within the merigenet. True monoecy in stinging nettle is widespread: male and female flowers of different gender forms were found in 10 out of 36 genets. The most common inflorescence architecture types in the studied population were proxigynous and basigynous. Both normal pistillate and normal staminate flowers, as well as flowers with morphological abnormalities formed based on flowers of different sexes can be found on the same ramet, which suggests the presence of paradioecious lability. [ABSTRACT FROM AUTHOR]

One of the most evident sources of phenotypic diversity within a population is colouration, as exemplified by colour polymorphism. This is relevant to a greater extent in animals with visually biased sensory systems. There is substantial evidence suggesting that different colour morphs can access a broader range of habitats or niches, leading to larger geographic range sizes. However, this hypothesis has been tested in few lineages, comprising species where colour is likely to be involved in sexual selection. Furthermore, some available evidence considers geographical variation as polymorphism, thus limiting our comprehension of how sympatric colour polymorphism can influence a species' geographic range. Through an extensive systematic literature review and a comparative analysis, we examined the relationship between colour polymorphism and range size or niche breadth in web-building spiders. We identified 140 colour polymorphic spider species, belonging mainly to the families Araneidae and Theridiidae. We found no evidence that colour polymorphic species differ significantly from non-polymorphic species in terms of range size and niche breadth, after accounting for phylogenetic relationships and other covariates. However, we did observe that colour polymorphic species were more likely to be found on islands compared to non-polymorphic species. Overall, our results indicate that the association between colour polymorphism and geographic range size may not exist among web-building spiders, or be as pronounced as in other lineages. This suggests that the strength of the association between colour polymorphism and ecological success might depend on the ecological role that colouration plays in each clade. [ABSTRACT FROM AUTHOR]

The species of the genus Deschampsia are difficult for identification, and the genus is difficult for taxonomic treatment. The regions of 35S rRNA genes were studied for the species of the genus Deschampsia of different geographical origin with a method of sequencing by Sanger (ITS1–5.8S rRNA gene–ITS2, 14 species) and with a method of a locus-specific next-generation sequencing (NGS) on the Illumina platform (ITS1–5.8S rRNA, 7 species). All species of Deschampsia formed one clade; the species, referred by some authors on the basis of morphological characters to the species D. cespitosa s.l., entered one subclade. Subantarctic species formed a separate subclade and their ribotypes formed their own subnetwork. Avenella flexuosa, earlier referred to Deschampsia, entered the other clade, though this species contains some ribotypes common with some Deschampsia species. Deschampsia pamirica and related mountain species have their own specific ribotype groups. On the network of the ribotypes, one can see that D. cespitosa from Great Britain forms a network with some species, but D. cespitosa from the USA forms its own network. Ribotype analysis of each sample revealed traces of introgression with Deyeuxia/Calamagrostis in D. cespitosa and with A. flexuosa and probable introgression of Northern and subantarctic species. [ABSTRACT FROM AUTHOR]

Sulfamerazine (4-Amino-N-(4-methylpyrimidin-2-yl) benzenesulfonamide) is a polymorphic molecule crystallizing in three forms: Form I: Pn21a polymorph (with three entries in the Cambridge Structural Database CSD), Form II: Pbca polymorph (with two entries in the CSD) and Form III: P21/c polymorph with only one entry in the CSD). We have experimentally prepared a novel monoclinic P21/c polymorph (Form IV) of the sulfadrug and also obtained crystals of Form II (Pbca polymorph) by following a different synthesis procedure. Both crystals were structurally characterized by single-crystal X-ray diffraction XRD and geometrically optimized by density functional theory DFT. The five crystal structures (1), (3)–(6) of the four mentioned polymorphs were analyzed and discussed in terms of crystal packing, Hirshfeld surface analysis HSA of the intermolecular interactions, voids' distribution in the crystal packing, their related energies and the resulting underlying topologies. The energy and activity relations of the compounds were also investigated by DFT. [ABSTRACT FROM AUTHOR]

Understanding the maintenance of genetic variation in reproductive strategies and polymorphisms in the wild requires a comprehensive examination of the complex interactions between genetic basis, behaviour and environmental factors.We tested the association between three colour genotypes and variation in female pheromone signalling and male antennal morphology in the wood tiger moth (Arctia plantaginis). These moths have genetically determined white (WW, Wy) and yellow (yy) hindwings that are linked to mating success and fitness, with heterozygotes (Wy) having an advantage. We hypothesized that attractiveness and reproductive success are correlated, with Wy females being more attractive than the other two genotypes which could contribute to maintaining the polymorphism.Female attractiveness was tested by baiting traps with females of the three colour genotypes both in low‐ (i.e. field set‐up) and in high‐population density (i.e. large enclosure set‐up). Male's ability to reach females was correlated to their own colour genotype and antennal morphology (length, area and lamellae count).Contrary to our prediction, morph‐related reproductive success and attractiveness were not correlated. Heavier Wy females attracted a lower proportion of males compared to WW and yy females. Specifically, an increase in weight corresponded to a decreased Wy but increased yy female attractiveness. yy females were generally more attractive than others likely due to earlier pheromone release. In males, lamellae count and genetic colour morph were linked to the male's ability to locate females. Furthermore, male traits affected their ability to reach females in a context‐specific way. Males with denser antennae (i.e. higher lamellae count) and white males reached the females faster than yellows in the enclosure, while yellow males located females faster than whites in the field.Our results indicate that higher yy female attractiveness was likely affected by the combined effect of early pheromone release, female weight and higher population density. Males' searching success was affected by morph‐specific behavioural strategies and local population density. Ultimately, the combined effect of genotype‐related pheromone signalling strategies of females together with environment‐dependent male behaviour affect male response and potentially contribute to maintaining variation in fitness‐related traits. [ABSTRACT FROM AUTHOR]

The article explores the seasonal piscivory behavior of pumpkinseed sunfish in pond ecosystems in Southern Ontario, Canada. The study reveals that pumpkinseed sunfish exhibit extensive seasonal fish consumption in ponds, even in the absence of large predators. The findings suggest that mesopredator fish like pumpkinseed may fill the top predator niche in pond ecosystems, highlighting the importance of considering ponds in ecological research and understanding the impacts of expanding mesopredator species on aquatic food webs. The study emphasizes the need for further research to test the mesopredator release hypothesis and quantify the consequences of meso- and top predator expansion in pond ecosystems. [Extracted from the article]

The synthesis and characterization of a new paramagnetic ligand, 4-(N′-methyl-2′-benzimidazolyl)-1,2,3,5-dithiadiazolyl (MebimDTDA), is presented. MebimDTDA exhibits polymorphism in the solid state. The red microcrystalline form (Form I-red) is diamagnetic below T = 370 K, consistent with typical multi-center two-electron bonding interactions (i.e., pancake bonds) between planar π-radicals. By contrast, the green–black crystalline form (Form II-green) exhibits paramagnetic properties consistent with the observed unusual crystal packing in which some, but not all, of the radicals are arranged in a typical pancake-bonded geometry. Crystallographic analysis, magnetic data, and computational methods are employed to elucidate the structure-property relationship, with an emphasis on the role of crystal packing. [ABSTRACT FROM AUTHOR]

Parasite‐mediated selection is widely believed to play a crucial role in maintaining the diversity of the major histocompatibility complex (MHC) genes, which is thought to be maintained through heterozygote advantage, rare‐allele advantage, and fluctuating selection. However, the relationship between parasite pressure and MHC diversity has yielded inconsistent findings. These inconsistencies may arise from the influence of environmental factors and individual variations in traits on host–parasite interactions. To address these issues, our study extensively investigated populations of striped hamsters inhabiting regions characterized by environmental heterogeneity. The primary objective was to examine the universality of parasite‐mediated selection mechanisms. Our observations revealed the presence of multiple parasite infections, accompanied by spatial and temporal variations in parasite communities and infection patterns among individual hamsters. Specifically, the temperature was found to influence all four parasite indices, while the presence of gamasid mites and parasite richness decreased with increasing precipitation. We also noted significant seasonal variation in parasite dynamics. Moreover, a significant sexual dimorphism was observed with males exhibiting a considerably higher parasite burden compared to their female counterparts. Lastly, we identified the maintenance of MHC polymorphism in striped hamsters as being driven by the heterozygote advantage and fluctuating selection mechanisms. This study underscores the significance of ecological processes in comprehending host–parasite systems and highlights the necessity of considering environmental factors and individual traits when elucidating the mechanisms underlying MHC diversity mediated by parasites. [ABSTRACT FROM AUTHOR]

The genetic variability in 13 selected genotypes of Vaccinium corymbosum using re-trotransposon-based iPBS markers system was characterized in this study. The four selected iPBS primers amplified 232 fragments, average 58 fragments per primer, approximately 53.16% of which were polymorphic. The polymorphism information content of iPBS marker was 0.238. The hierarchical cluster using unweighted pair group method with arithmetic mean analysis divided selected genotypes into two main groups and several subgroups. The values of the Jaccard coefficient of genetic relatedness were between 0.036–0.243. The similarity between two sample sets was 3.6%–24.3%. This study confirmed inter-PBS amplification technique as a reproducible and trustable marker system, but has proved to be an effective DNA fingerprinting technology to generate polymorphism in Vaccinium corymbosum. [ABSTRACT FROM AUTHOR]

Several investigations have been carried out to explore the genetic association of TLR4 codon variants, specifically Asp299Gly and Thr399Ile, and susceptibility to sepsis, but the results have been contradictory. The present study aimed to conduct a meta‐analysis to draw a definitive conclusion regarding the role of TLR4 genetic variants (Asp299Gly and Thr399Ile) in sepsis. A thorough literature search was conducted using the PubMed, Scopus, and Science Direct databases. The inclusion and exclusion criteria were established to ensure the accuracy of the data. The Comprehensive Meta‐Analysis Software v4 was utilized to perform the meta‐analysis and related analyses. A total of 13 studies were analyzed, including 2328 sepsis cases and 2495 healthy controls for the TLR4 Asp299Gly variant. Eight studies provided genotype data for the rs4986791 polymorphism. The Asp299Gly variant showed a marginal protective effect in the allele (p = 0.08, odds ratio = 0.71) and dominant (p = 0.09, odds ratio = 0.71) genetic models, although it was not statistically significant. The trial sequential analysis indicated that further case–control studies are necessary to draw definitive conclusions about the TLR4 polymorphisms in sepsis. The TLR4 Asp299Gly variant may have a protective effect against sepsis. However, additional research with larger sample sizes across diverse populations is required to validate this finding. [ABSTRACT FROM AUTHOR]

The TTN gene encodes a large muscle protein called titin, which provides structure, stability, and flexibility to skeletal and cardiac sarcomeres. The aim of this study was to determine whether the TTN C > T polymorphism (rs10497520) influenced training-induced changes in selected variables of aerobic and anaerobic capacity. We studied genotypes distribution in a group of 156 Caucasian females examined for aerobic capacity evaluated by maximal oxygen uptake (VO2max), and anaerobic capacity measured with the Wingate anaerobic test, before and after a 12-week training program. The most important finding was a genotype by training interaction for anaerobic capacity (AnC) during the Wingate test (p = 0.003). In response to training, carriers of the CT and TT genotypes demonstrated a significant increase in the total amount of work accomplished. We also showed that the applied training program improved all the Wingate test variables in the CT + TT genotype group by 10%. The obtained results suggest that the CT and TT genotypes may enhance anaerobic power and anaerobic capacity changes induced by regular training. We also suggest that T allele carriers may possess a metabolic adaptive advantage towards the anaerobic metabolism. Thus, the TTN gene may be considered a promising marker used in sports science, underlying variability in achieving sporting goals in events where the anaerobic energy system predominates. [ABSTRACT FROM AUTHOR]

Background: Epidemiological studies have reported that polymorphisms of folate-metabolizing genes have a significant impact on male infertility. However, the results of published studies have come to different conclusions. Objective: To determine an association between folate-metabolizing gene polymorphisms and the risk of male infertility. Methods: The meta-analysis was conducted according to the PRISMA 2020 statement. The protocol was registered with PROSPERO (CRD42023412251). Studies were searched from PubMed, Google Scholar, Embase, Scopus, and the Cochrane Library up to 24st October2023. Articles that satisfied the inclusion criteria were evaluated for their quality using the Newcastle–Ottawa Scale. Data were extracted from the eligible studies and were analyzed for pooled up odds ratio (OR) with 95% confidence interval (CI). Meta-analysis was conducted using STATA 12. Results: Forty-six case–control studies were included in the meta-analysis which comprised 20,639 participants. The pooled analysis revealed that the MTHFR C677T polymorphism was significantly associated with male infertility and abnormospermia.Three-fifths of the model showed there was a significant association between the MTR A2756G polymorphism and male infertility. Both MTHFR A1298C and MTRR A66G polymorphisms were not significantly associated with male fertility. Furthermore, subgroup analysis revealed a significant association between the MTHFR C677T polymorphism and male fertility in Asian countries. Conclusion: This meta-analysis suggests that the MTHFR C677T and MTR A2756G polymorphisms may be a potential risk factor for male infertility. [ABSTRACT FROM AUTHOR]

The ability of a compound to form different crystalline structures, possessing distinct chemical and physical properties, is known as polymorphism. To identify the isolable polymorphs of a compound, extensive screening of experimental crystallization conditions is often carried out in a high-throughput fashion, where only powder X-ray diffraction (PXRD) patterns are obtainable. The room-temperature diffractograms must then be compared to low-temperature, single-crystal X-ray structures, such as from the Cambridge structural database (CSD), to identify if a particular solid form is a new or pre-existing polymorph. This comparison is problematic because the PXRD peak positions shift substantially with temperature. The variable-cell experimental powder difference (VC-xPWDF) method was recently developed to allow reliable comparison of experimental PXRD patterns to simulated diffractograms of known crystal structures. This work demonstrates the utility of VC-xPWDF to solve crystal structures from PXRD data generated during high-throughput polymorph screening for the test case of 5-methyl-2-[(2-nitrophenyl)amino]-3-thiophenecarbonitrile, also known as ROY, which is a prolific polymorph former. The method is shown to be successful for the comparison of PXRD patterns to both experimental crystal structures from the CSD and computationally generated structures obtained from a previous crystal structure prediction study. The experimental diffractogram quality was shown not to affect the results in most cases, although some errors do occur due to preferential orientation and low intensity/high baseline noise, which could potentially be reduced by additional grinding of the samples prior to making the PXRD measurements or slightly longer X-ray exposure during data collection. [ABSTRACT FROM AUTHOR]

Objective To comprehensively evaluate the association between Thymic Stromal Lymphopoietin (TSLP) and atopic dermatitis (AD). Methods Six databases were searched for relevant studies. For studies on TSLP levels, the standardized mean difference (SMD) was used. For studies involving gene polymorphisms, evaluation was performed using odds ratios (ORs) and 95% confidence intervals (95% CIs). Based on the between-study heterogeneity, a fixed- or random-effects model was chosen. Analyses were performed using RevMan 5.3 software and R 4.3.0 software. Trial sequential analysis was conducted to evaluate whether the number of cases was sufficient. Results A significant relationship between TSLP rs1898671 polymorphism and AD was found under homozygous (DD vs dd), and dominant contrasts (DD + Dd vs dd), with OR = 0.47 (95% CI: 0.24, 0.92) and 0.46 (95% CI: 0.24, 0.88), respectively (p < 0.05). Whereas under allele (D vs d), heterozygous (Dd vs dd) and recessive contrasts (DD vs Dd + dd), no significant relationship was found. No significant relationship was found for rs1837253 or rs11466749. Serum TSLP levels were significantly higher in patients with AD, with the SMD = 1.45 (95% CI: 0.65, 2.25) (p < 0.05). Conclusions TSLP gene rs1898671 polymorphism was associated with AD, and TSLP levels were elevated in patients with AD. [ABSTRACT FROM AUTHOR]

Background: Recent studies have reported an association between Cytotoxic T-lymphocyte antigen-4 (CTLA-4) polymorphisms and hematologic malignancy susceptibility, while the results remain inconsistent. Hence, we performed a meta-analysis to investigate the association between CTLA-4 polymorphisms with hematologic malignancy susceptibility. Methods: A comprehensive and systematic search of Cochrane Library, PubMed, Embase databases was performed up to Sep. 20, 2024. The pooled odds ratio (OR) and its 95% confidence interval (CI) were used to determine the strength of the association between CTLA-4 polymorphisms and hematologic malignancy susceptibility. Statistical analysis was performed in STATA 12.0. Results: A total of 13 studies concerning the CTLA-4 49A/G, CTLA-4 60A/G, CTLA-4 318T/C, CTLA-4 1661A/G, and CTLA-4 319C/T polymorphisms were included in the meta-analysis. The pooled results suggested the CTLA-4 49A/G polymorphism was significantly associated with an increased hematologic malignancy risk (AA vs. GA+GG: OR = 1.77, 95% CI = 1.56-2.02), especially in NHL, multiple myeloma, and leukemia. Similarly, CTLA-4 319C/T polymorphism was found to be associated with decreased chronic lymphocytic leukemia risk. There was no significant association between the CTLA-4 60A/G, 318T/C, and 1661A/G polymorphism and hematologic malignancy risk. Conclusion: CTLA-4 49A/G and 319C/T polymorphisms were associated with hematologic malignancy susceptibility. [ABSTRACT FROM AUTHOR]

Background and objective: Genetic polymorphism studies in families and twins indicated the heritability of depression. However, the association between genes with genetic polymorphism and depression provides various findings and remains unclear. Therefore, we conducted a systematic review and meta-analysis to determine the genes with their polymorphism associated with the symptomatic depression known as major depressive disorder (MDD). Materials and methods: PubMed and Scopus were searched for relevant studies published before May 22, 2023 (1968–2023), and 62 were selected for this review. The study's bias risk was investigated using the Newcastle–Ottawa scale. Gene functional enrichment analysis was investigated for molecular function (MF) and biological process (BP) and pathways. A meta-analysis of the studied genes that were replicative in the same single nucleotide polymorphism was conducted using a random-effect model. Results: The 49 genes involved in MDD were studied and engaged in several pathways, such as tryptophan metabolism or dopaminergic and serotonergic synapses. Based on gene overlapping in MF and BP, 13 genes with polymorphisms were identified as related to MDD. Most of them were only studied once. Solute carrier family 6 member 4 (SLC6A4) overlapping between MF and BP and brain-derived neurotrophic factor (BDNF) as unique to BP were replicative studied and used in the meta-analysis. The polymorphism of SLC6A4 SS and LS genotypes increased the occurrence of MDD development but not significantly [odd ratio (OR) = 1.39; 95% confidence interval (CI) = 0.87–2.22; P = 0.16 and OR = 1.13; 95% CI = 0.84–1.53; P = 0.42, respectively]. A similar result was observed for BDNF rs6265 GG (OR = 1.26; 95% CI = 0.78–2.06; P = 0.35) and BDNF rs6265 AA genotypes (OR = 1.12; 95% CI = 0.77–1.64; P = 0.56). These studies indicated low bias and significant heterogeneity. Conclusion: At least 13 studied genes with polymorphisms were involved in MDD development according to MF and BP, but not significantly. These results suggest that MDD development risk factors might require genetic and other factors for interaction and induction. [ABSTRACT FROM AUTHOR]

To gain a clearer understanding of the relationship between venous leg ulcers (VLUs) and knee osteoarthritis (KOA), we performed a two‐sample, bidirectional Mendelian randomization (MR) analysis in this study. The present MR was carried out using summary data from publicly available genome‐wide association studies. After filtering single‐nucleotide polymorphism (SNP), we applied a variety of MR methods including inverse variance weighted (IVW), MR egger, weighted mode, and weighted median. IVW analysis revealed that the genetic association between VLUs and KOA was not significant (β = −0.017; SE 0.039; p = 0.658). In agreement with the IVW analysis, the findings of the weighted median estimator (β = −0.017; SE 0.052, p = 0.751), MR egger (β = 0.057; SE 0.084; p = 0.513), and weighted mode (β = 0.060; SE 0.078; p = 0.456) indicated the absence of a significant genetic association between VLUs and KOA. Furthermore, reverse causality analysis suggested a lack of genetic relationship between KOA and VLUs. In conclusion, the present MR study does not suggest a causal relationship or reverse causal relationship between VLUs and KOA. [ABSTRACT FROM AUTHOR]

Controlling the polymorphism of metal nanocrystals is a promising strategy for enhancing properties and discovering new phenomena. However, previous studies on Rh nanocrystals have focused on their thermodynamically stable face‐centered‐cubic (fcc) phase. Herein, a facile synthesis of Rh‐based nanocrystals featuring the metastable hexagonal close‐packed (hcp) phase is reported by using Ru seeds in their native hcp phase to template the deposition of Rh atoms. The success of such phase‐controlled synthesis relies on the templating effect promoted by the small lattice mismatch between Ru and Rh and the slow dropwise titration of the precursor at an elevated temperature, ensuring the layer‐by‐layer growth mode and thus the formation of a conformal hcp‐Rh shell. Faster injection rate of Rh(III) precursor leads to the formation of a rough Rh shell in the conventional fcc phase due to accelerated reaction kinetics. Considering both thermodynamic and kinetic aspects of this system, the hcp‐Rh phase is favored when the low surface energy from smooth overlayers balances the high bulk energy of the metastable phase, achieved through tight control of reaction rates and deposition patterns. These Ruhcp@Rhhcp core–shell nanocrystals demonstrate thermal stability up to 400 °C, while exhibiting higher catalytic activity toward ethanol oxidation reaction compared to Ruhcp@Rhfcc counterparts. [ABSTRACT FROM AUTHOR]

Russian wheat aphid (RWA, Diuraphis noxia Kurdjumov) is a highly invasive and destructive wheat pest evolving rapidly to overcome host resistance. Novel genes conferring resistance to multiple RWA biotypes are needed to sustain wheat production. The Iranian landrace PI 625139 is resistant to all five US RWA biotypes. To map the RWA resistance gene in PI 625139, both F2 and F2:3 populations were developed from cross PI 625139 × Smith's Gold, and the F2:3 population was evaluated for responses to five RWA biotypes, RWA1, RWA2, RWA3/7, RWA6, and RWA8. RWA assays identified a single gene in PI 625139, designated Dn625139, conditioning resistance to all five US RWA biotypes. Selective genotyping of a subset of F2 plants using genotyping‐by‐sequencing (GBS) revealed a set of single‐nucleotide polymorphism (SNP) markers on the short arm of chromosome 7D that are closely associated with RWA resistance. Kompetitive allele‐specific PCR (KASP) markers were developed from selected GBS‐SNPs in 7DS. Genetic analysis using the new KASP and simple sequence repeat (SSR) markers placed Dn625139 to a 2.6 cM interval. Dn625139 was 1.2 cM proximal to the KASP marker Stars‐KASP1007 (169.57 Mb) and 1.4 cM distal to the SSR marker Stars1039 (195.27 Mb) in the International Wheat Genome Sequencing Consortium (IWGSC) RefSeq v2.1 reference sequence, and co‐segregated with the SSR marker Stars1029 (180.82 Mb). Dn625139 is a valuable gene conferring resistance to multiple RWA biotypes, and the molecular markers developed in this study can facilitate its rapid introgression into locally adapted cultivars to enhance wheat RWA resistance. [ABSTRACT FROM AUTHOR]

How phenotypic diversity originates and persists within populations are classic puzzles in evolutionary biology. While balanced polymorphisms segregate within many species, it remains rare for both the genetic basis and the selective forces to be known, leading to an incomplete understanding of many classes of traits under balancing selection. Here, we uncover the genetic architecture of a balanced sexual mimicry polymorphism and identify behavioral mechanisms that may be involved in its maintenance in the swordtail fish Xiphophorus birchmanni. We find that ∼40% of X. birchmanni males develop a "false gravid spot," a melanic pigmentation pattern that mimics the "pregnancy spot" associated with sexual maturity in female live-bearing fish. Using genome-wide association mapping, we detect a single intergenic region associated with variation in the false gravid spot phenotype, which is upstream of kitlga , a melanophore patterning gene. By performing long-read sequencing within and across populations, we identify complex structural rearrangements between alternate alleles at this locus. The false gravid spot haplotype drives increased allele-specific expression of kitlga , which provides a mechanistic explanation for the increased melanophore abundance that causes the spot. By studying social interactions in the laboratory and in nature, we find that males with the false gravid spot experience less aggression; however, they also receive increased attention from other males and are disdained by females. These behavioral interactions may contribute to the maintenance of this phenotypic polymorphism in natural populations. We speculate that structural variants affecting gene regulation may be an underappreciated driver of balanced polymorphisms across diverse species. [Display omitted] • The false gravid spot is a sexual mimicry polymorphism in swordtail fish • Non-coding structural variation increases expression of kitlga to drive the spot • Several lines of evidence suggest balancing selection maintains the polymorphism • The false gravid spot alters social interactions with both males and females The false gravid spot is a sexual mimicry polymorphism that allows males to mimic females. Dodge et al. link the phenotype to structural variation that increases expression of the nearby kitlga gene. The spot affects multiple social interactions with males and females, which may contribute to the persistence of this balanced polymorphism in nature. [ABSTRACT FROM AUTHOR]

The six major bovine milk proteins are encoded by highly polymorphic chromosomes. Genetic variation has become a topic of interest and controversy in recent years due to supposed adverse health effects, beginning with the A2 variant of β‐casein. The functional implications of genetic variants have been well characterised, specifically heat stability and coagulation (i.e. rennet and acid) properties of milk, which have found that the B variant of β‐casein, κ‐casein and β‐lactoglobulin are the most beneficial. Genetic variants of milk proteins provide considerable potential to create new dairy products to add value to milk. [ABSTRACT FROM AUTHOR]

Diabetic kidney disease (DKD) is a serious microvascular complication of type 2 diabetes mellitus (T2DM). Despite the numerous genetic loci that have been associated with the disease in T2DM, the genetic architecture of DKD remains unclear until today. In contrast to SERPINE1, the contribution of SERPINB2 has not been examined in DKD. Therefore, we conducted the first genetic association study of SERPINB2 to elucidate its role in DKD. In total, the study involved 197 patients with DKD, 155 patients with T2DM without microvascular complications (diabetic kidney disease, diabetic retinopathy, and diabetic neuropathy), and 246 healthy controls. The generalized odds ratio (ORG) was calculated to estimate the risk on DKD development. The present association study regarding SERPINB2 SNPs (rs4941230, rs3819335, rs13381217, rs6140) did not reveal any significant association between SERPINB2 variants and DKD. Additional studies in other populations are necessary to further investigate the role of this gene in the progression of diabetes mellitus and development of DKD. [ABSTRACT FROM AUTHOR]

Background: Although several genetic biomarkers have been reported in the tocilizumab (TCZ) response in rheumatoid arthritis, no studies have addressed the pharmacogenomics effect of TCZ in COVID-19. Methods: In this prospective longitudinal study, 95 individuals with severe COVID-19 were selected between 2020–2022. The recovery process was measured at 24 h, 48 h, and 10 days before and after taking TCZ. All participants were genotyped using RFLP-PCR. Different genotypes of FCGR2A rs1801274 and IL-6R rs2228145 were compared in terms of the recovery process. Results: 43.2% of patients were male and 56.8% were female with an average age of 58.20(± 16.214) years. The GA genotype for FCGR2A rs1801274 increased the risk of death (OR = 2.83, P = 0.038) and ventilation (OR = 2.71, P = 0.047) in TCZ-treated individuals. However, there was no risk of death and ventilation with IL-6R rs2228145 (P > 0.05). Additionally, docking analysis showed that not only IL6R but also FCGR2A can be a ligand for TCZ. Conclusion: This study provides valuable insights into the impact of genetic variations on the response rate of TCZ in COVID-19 patients. The GA genotype for FCGR2A rs1801274 was associated with poor treatment outcomes. [ABSTRACT FROM AUTHOR]

Although farmed shrimp contribute to global food security and foreign exchange, the development of genomic resources such as single nucleotide polymorphisms for these shrimp is at slow pace. Public genomic resources like Genbank and Ensembl do not host polymorphism data for shrimp. Therefore, through analysis of the short RNA‐sequence reads generated on pooled‐individual samples, using the latest bioinformatics tools, this study documents data of single nucleotide polymorphisms in two shrimp species, Penaeus vannamei and Penaeus indicus, and presents these data in a searchable user‐friendly webtool, the dbVAST. The webtool also hosts the information about the possible effects that the variations could have on the functioning of the coded protein. This is the first open‐access SNP database of shrimp intended to benefit researchers and academicians by showcasing variations in shrimp transcripts. [ABSTRACT FROM AUTHOR]

Armillaria spp. are devastating forest pathogens. Due to its low pathogenicity and abundant genetic variation, Armillaria gallica exhibited a unique and beneficial symbiosis with Gastrodia elata, which was used as a traditional Chinese medicine. However, the variation and population structure of A. gallica populations have rarely been investigated. Hence, we analyzed the evolution and variation in simple sequence repeats (SSRs) in three Armillaria genomes: A. gallica, A. cepistipes, and A. ostoyae to assess the genetic diversity and population structure of 14 A. gallica strains. Genome analysis revealed that SSRs were more abundant in the intergenic region than the intron and exon region, as was the SSR density. Compared with other two genomes, SSR density was the lowest in exon region and largest in the intron region of A. gallica, with significant variation in genic region. There were 17 polymorphic markers in A. gallica genome was identified, with 26.7% in genic region, which is higher than that of 18.8% in the intergenic region. Moreover, a total of 50 alleles and 42 polymorphic loci were detected among these A. gallica strains. The averaged polymorphism information content (PIC) was 0.4487, ranged from 0.2577 to 0.6786. Both principal coordinate analysis (PCoA) and population structure analyses based on the genotype data of SSRs divided the strains into two clusters. The cluster I included all the strains from high-altitude G. elata producing areas and some low-altitude areas, while the strains in Cluster II originated from low-altitude G. elata producing areas. These results indicated that substantial genome-specific variation in SSRs within the genic region of A. gallica and provide new insights for further studies on the evolution and breeding of A. gallica. [ABSTRACT FROM AUTHOR]

Variation in coat color is a prominent feature in carnivores, thought to be shaped by environmental factors. As new traits could allow populations to occupy novel niches and habitats, color polymorphism may be maintained by balancing selection. Consequently, color polymorphic species may speciate more rapidly and can give rise to monomorphic daughter species. We thus predicted that, within the Carnivora, (i) speciation rate is higher in polymorphic lineages, (ii) divergence between color polymorphic lineages is more recent, and (iii) within closely related groups, polymorphic lineages are ancestral and monomorphic lineages derived. We also tested whether accelerated speciation rates relate to niche breadth, measured by the number of occupied habitats and range size. We collected data of 48 polymorphic and 192 monomorphic carnivore species, and assessed speciation rates using phylogenetic comparative methods. We found that polymorphic carnivores had higher speciation rates (λ1 = 0.29, SD = 0.13) than monomorphic species (λ0 = 0.053, SD = 0.044). Hidden and quantitative state speciation and extinction models inferred that color polymorphism was the main contributing factor, and that niche breadth was not of influence. Therefore, other selective forces than spatial niche segregation, such as predator-prey coevolution, may contribute to color polymorphism in wild carnivores. [ABSTRACT FROM AUTHOR]

This study investigated the minichromosome maintenance 6 (MCM6) rs4988235 polymorphism in professional football players, comparing genotype and allele frequencies with a sedentary control group. The control group comprised 64 participants with no history of athletic activity, while the athlete group included 20 football players. DNA extraction from blood samples was performed using a PureLink DNA isolation kit, following the manufacturer's instructions. Real-Time PCR was employed to analyze the MCM6 rs4988235 polymorphism in the isolated DNA. Statistical analysis of the acquired data was conducted using chi-square analysis via IBM SPSS 21.0 software (IBM Statistical Package for Social Sciences Corp., Armonk, NY, USA). A p-value less than 0.05 was considered statistically significant. The CC genotype was absent in all football players. Conversely, CT (10%) and TT (90%) genotypes were identified in 2 and 18 individuals, respectively. In the control group, the distribution of genotypes was as follows: CC (0%), CT (17, 26.6%), and TT (47, 73.4%). The C allele frequency was 5% (2 individuals) in football players and 13.28% (17 individuals) in the control group. The T allele frequency was 95% (38 individuals) in football players and 86.72% (111 individuals) in the control group. No statistically significant differences were observed between the football players and the control group regarding genotype (p = 0.122) or allele frequencies (p = 0.149). [ABSTRACT FROM AUTHOR]

Introduction: The North-eastern Region of India has been a rich reservoir of haemoglobinopathies and thalassaemias. Genetic modifiers, commonly known as ameliorating factors, like co-inheritance of α-thalassaemia, excess α genes, the presence of the XmnI Gγ polymorphism and BCL11 Single Nucleotide Polymorphisms (SNPs), influence the reduction of the severity of Beta-thalassaemia. Early genetic diagnosis can aid in predicting a better prognosis and lower morbidity in thalassaemic children. Aim: To find out the XmnI polymorphism among thalassaemic children admitted to the Paediatric Department for regular blood transfusions and to assess the relationship between XmnI polymorphism, disease severity and foetal haemoglobin levels. Materials and Methods: This hospital-based cross-sectional study was done from June 2020 to May 2021 in the Department of Paediatrics and Anatomy at Assam Medical College and Hospital, Dibrugarh, Assam, India. A total of 96 thalassaemic children presenting to the thalassaemia daycare centre of the Paediatrics Department for repeated blood transfusions were included. Data collected from history and examination findings were recorded and the presence of XmnI polymorphism in their blood was tested using the Polymerase Chain Reaction-Restriction Fragment-length Polymorphism (PCR-RFLP) method. The association of XmnI polymorphism with disease severity and foetal haemoglobin levels was analysed using the Chi-square test, with a p-value of <0.05 considered significant. Results: The mean age of the children was 10.1±4.4 years (range: 2 to 18 years), with a male-to-female ratio of 0.95:1. Among the participants, 59 (61.46%) had Haemoglobin (Hb) E-ß thalassaemia and 37 (38.54%) had ß thalassaemia homozygous type. A total of 47 (48.96%) children exhibited the presence of XmnI polymorphism, of which 16 (34%) had ß-thalassaemia homozygous and 31 (66%) had Hb E-ß thalassaemia. A significant association was found between this polymorphism and disease severity (p<0.001), but no significant association was observed with HbF levels (p=0.089). XmnI polymorphism was associated with hepatomegaly and stunting. Conclusion: The present study demonstrated that the presence of XmnI polymorphism in thalassaemic children was associated with decreased disease severity, as these children presented at a later age and required fewer blood transfusions than those without this polymorphism. No association was found between XmnI polymorphism and HbF levels in the present study. [ABSTRACT FROM AUTHOR]

Background: Cowpea is an important fodder legume crop due to its high protein content and fast growing nature. Cowpea can be grown as sole crop or it can also be grown as intercrop with some non legume such as maize, pearl millet or sorghum. Mostly the farmers prefer erect or semi erect high yielding cowpea varieties as an intercrop because they are easy to harvest. The transfer of erectness along with other forage traits can be done with proper knowledge of gene action controlling that particular trait. Methods: To improve the fodder yield, two sets of crosses along with their segregating generations were analysed for erectness along with other forage traits to estimate the type of gene action through generation mean analysis. Identification of SSR primers associated with erectness was also carried out in F2 population of a Cross (C-88 x TNFC 6926). Result: The scaling test showed significant results for most of the traits indicating the presence of epistatic interactions. The sixparametric model test was performed and the results indicated the significant overall mean and traits were inherited quantitatively. The high magnitude of additive x additive gene effect for green fodder yield suggests the pedigree method is most suitable breeding programme for development of fodder cultivars with better quality traits. Out of 151 SSR primers, 15 SSRSs showed polymorphism between two parental lines. Out of these 15 SSR primers, three primers showed linkage with erectness. [ABSTRACT FROM AUTHOR]

The association between the MCM6-13910-C/T polymorphism and lactose intolerance in individuals of European descent is well known. However, the notion that having a single versus a double allelic mutation might influence one's phenotype has been hypothesized. This study investigated whether patients with the three genotypes C/C, C/T, T/T differed in response to a lactose tolerance test (LTT) in a Danish setting. Anonymized data on 603 individuals with results for both genetic test and LTT were investigated. Mean delta glucose values were plotted for the time points of the LTT (0, 15, 30, 45 and 60 min) for the C/C, C/T and T/T genotype, respectively. Further, the agreement between the three genotypes and the diagnostic interpretation of the LTT were examined using a cut-off of > 1.4 mmol/L rise in glucose. In subjects with the C/C genotype, mean glucose delta levels were markedly lower compared to both the C/T and T/T genotypes at all time points. Overall, a difference between mean glucose delta values among the C/T and T/T genotype could not be shown. Using a LTT cut-off of > 1.4 mmol/L, the proportions of lactose intolerant LTT results for each genotype were as follows: 58% among C/C, 5% among C/T, and 7% among T/T. In a Danish healthcare setting, the C/C genotype was on average associated with a smaller glucose response during a LTT when compared to the C/T and T/T genotypes. A marked difference in the LTT response among the C/T and T/T genotype was not observed. [ABSTRACT FROM AUTHOR]

Phally polymorphism in snails offers an excellent opportunity to study the evolutionary basis of sexual polymorphism in animals. Phally polymorphism occurs when two or three sexual morphs co-occur in populations of hermaphroditic organisms. Euphallics have a fully developed and functional penis, hemiphallics have a reduced and non-functional penis, while aphallics have no penis. All morphs can self-fertilize, but only euphallics can donate sperm during copulation. In this study, we investigated the geographical pattern of phally polymorphism in minute Vertigo species by testing snails from Polish and Swedish populations. Considering the principle of resource allocation, we checked whether sexual morph reflects the size of the shell. Although the Swedish Vertigo snails tend to be smaller than the Polish ones, our results show no clear geographical pattern of sexual morph balance in the studied populations. Aphallics of V. angustior were bigger than the euphallics; conversely to V. substriata , where euphallics were bigger than aphallics. Such a result suggests a species-specific resource allocation towards the given sexual function. Since hemiphallics of V. antivertigo were smaller than euphallics, we discuss the possible trade-off when faced with resource depletion and the failure of attaining sexual maturity of euphallics. [ABSTRACT FROM AUTHOR]

Colour polymorphism is an example of visible phenotypic variability that is often associated with ecological factors and may produce local adaptations. Small populations, particularly in islands, offer opportunities for evolutionary novelties, and are therefore of particular interest to the study of polymorphisms. Here we study the dynamics of female colour morphs in the damselfly Ischnura elegans in the Balearic Islands. We found that insular populations are small, show low density, low mating activity, and low androchrome frequency. Our surveys suggest that male harassment is a powerful force in the dynamics of this female-limited polymorphism, because high male densities result in lower presence of mature females around the water, where copulation takes place. Non-male-like (infuscans) females have higher mating frequency. Androchromes were rare (15%) in all populations, but the frequency of the two non-male like females (infuscans and aurantiaca) was reversed between islands, despite their geographical proximity. We found a possible novel morph, suggesting that insular conditions allow innovations. Fitness differences between the two non-male-like females of I. elegans are still understudied, because most previous research has concentrated on the maintenance of androchromes, and are therefore a priority for future research. [ABSTRACT FROM AUTHOR]

Natural selection is known to favor specific gene combinations, thereby shaping the evolution of recombination rates, often through epistatic interactions. However, the dynamics of these interacting factors within natural populations remain poorly understood. In this study, we investigate the long‐term maintenance of a complex polymorphism involving linked, nonoverlapping chromosomal inversions in a natural population of Drosophila mediopunctata. Remarkably, even after 30 years—equivalent to roughly 340 generations—two major features have remained unexpectedly stable: the linkage disequilibrium (LD) between inversions, which deviates significantly from the theoretical prediction of decay, and a consistent seasonal cycle pattern of heterozygous excess and homozygous deficiencies. We explored the roles of recombination suppression, epistatic selection, and overdominance in maintaining this stability, examining their alignment with previously described patterns. Our findings reveal that moderate selection coefficients, such as s = 0.0407, are sufficient to maintain the observed LD for the most common haplotypes, albeit leading to an unstable equilibrium. Simulations further reveal that the introduction of overdominance stabilizes the system, enabling the long‐term persistence of this complex inversion polymorphism across various frequency scenarios. The stability of this system appears to hinge on a delicate balance between LD, recombination rates, and selective pressures, with overdominance playing a critical role. Our findings highlight the significance of epistatic interactions and selective pressures in shaping evolutionary pathways in natural populations and offer a compelling example of natural selection acting on a complex inversion polymorphism, providing valuable insights into the evolutionary dynamics governing inversion systems. [ABSTRACT FROM AUTHOR]

Colour polymorphic species often exhibit variation in morphology, physiology, and behaviour among morphs. In particular, dominance status may be signalled by the interaction between behaviour and colour morph. Behavioural traits associated with dominance include boldness, exploration, and aggression, which influence access to preferred habitat, territorial defence, and mate acquisition. In ectotherms, the social structure associated with morphs may result in the exploitation of structural niches differing in thermal quality. Hence, social interactions among morphs may generate concordant variation in thermal preference and environmental temperature. However, few studies have assessed thermal preference variation in colour polymorphic species and its covariation with behaviour. Doing so can provide insight into niche specialization and the maintenance of colour polymorphism in populations. Here, we investigated the patterns of covariation in boldness behaviour, exploratory behaviour, and thermal preference in the tree lizard, Urosaurus ornatus. We assessed trait variation between territorial and non‐territorial male morphs and between orange and yellow female morphs. Boldness and exploratory behaviour were repeatable in male U. ornatus and bolder individuals were significantly more likely to incur tail loss, a potential consequence of bold behaviour. Territorial male morphs were significantly bolder and more exploratory and preferred higher body temperatures with a narrower Tset than non‐territorial morphs. Female morphs did not vary in behavioural or thermal traits. This study highlights behavioural mechanisms that underly ecological niche segregation and variable habitat use between morphs in a colour polymorphic species. [ABSTRACT FROM AUTHOR]

Killer‐cell immunoglobulin‐like receptor (KIR) interactions with HLA class I have crucial roles in modulating NK cell function in response to viral infections. To explore the correlation between KIR/HLA and susceptibility to SARS‐CoV‐2 infection, we analysed polymorphism of KIR genes, haplotypes, HLA allotypes, and the interplay between KIR and HLA in individuals diagnosed with COVID‐19. Compared to a population control group, we observed a significantly increased frequency of KIR3DL3*00802 in the COVID‐19 group. When encoded by the HLA‐B gene, the frequency of HLA‐Bw4, a ligand for KIR3DL1, was at lower frequency in the COVID‐19 group. Additionally, significantly elevated frequencies of KIR‐Bx3, KIR3DL3*00301, 3DL3*048, and C1+HLA‐C were identified in the COVID‐19 group before multiple test correction, suggesting associations with susceptibility to SARS‐CoV‐2 infection. Our findings indicate that the KIR3DL3*00802 allele may be a high‐risk factor for SARS‐CoV‐2 infection, while Bw4 encoded by HLA‐B gene may confer protective effects against the infection. [ABSTRACT FROM AUTHOR]

Sorghum has a long history of cultivation in China. In this study, we aimed to clarify the genetic relationships and genetic variation trends in widely used Chinese sorghum hybrids which were released from the 1970s to 2010s and attempted to analyze the changes in sorghum breeding. A total of 257 alleles were detected by 51 polymorphic SSR markers among 69 widely used hybrids; an average of 5.04 alleles were detected by each marker. The average Shannon's index and polymorphism information content (PIC) of markers were 1.39 and 0.70, respectively. Nei's genetic diversity index continuously increased in four different breeding development stages (1973–1982, 1983–1992, 1993–2002, and 2003–2014). Genetic diversity gradually increased among the sorghum hybrids. Genetic similarity coefficients in the four breeding development stages first showed an increasing trend, and then a decreasing trend, finally stabilizing with an average value of 0.65. The genetic similarity changes in hybrids in early and late maturing areas were consistent at different breeding development stages. The genetic similarity coefficients in late maturing areas were constantly higher than those in the early maturing areas. This is related to China's creative utilization of A2 cytoplasmic male sterile materials in the 1990s. A cluster analysis determined that 69 hybrids were divided into two groups, A and B. Group A could be further subdivided into four subgroups. These findings could provide a reference for parental selection and hybrid breeding in sorghum improvement programs. [ABSTRACT FROM AUTHOR]

Vitamin B12 deficiency is a common condition that causes a variety of disorders ranging from the development of megaloblastic anemia to the building up of neurological damage. Historically one of the leading causes of B12 deficiency appears to be secondary to malabsorption in part caused by the development of atrophic gastritis in pernicious anemia. More recently B12 deficiency could also depend on dietary restrictions. Cobalamin deficiency also appears to be closely related to folate metabolism, causing a reduction in methionine synthase activity. This results in the accumulation of 5-methyltetrahydrofolate (5-MTHF) and defective DNA synthesis. It has been hypothesized that reduced activity of the enzyme methylene-tetrahydrofolate reductase (MTHFR) could reduce the production of 5-MTHF, thereby shifting folate metabolism to thymidylate synthesis and promoting proper DNA synthesis. Our aim was to investigate the role of the C677T and A1298C MTHFR gene polymorphisms, which are associated with reduced enzyme activity, in predisposing to the development of anemia, neurological symptoms, and atrophic gastritis in a population of 105 consecutive Italian patients with cobalamin deficiency. We found statistically significant correlations between the degree of anemia and thrombocytopenia and the C677T MTHFR polymorphism, while hemoglobin levels alone significantly correlated with A1298C polymorphism, contradicting the potential protective role of these polymorphisms. Furthermore, in patients with atrophic gastritis, we found an association between the absence of parietal cell antibodies and the presence of the C677T polymorphism in homozygosity. Our results suggest a role for MTHFR enzyme activity in the severity of hematologic manifestations of vitamin B12 deficiency and as an independent mechanism of predisposition to the development of atrophic gastritis. [ABSTRACT FROM AUTHOR]

Premise: Clines—or the geographic sorting of phenotypes across continual space—provide an opportunity to understand the interaction of dispersal, selection, and history in structuring polymorphisms. Methods: In this study, we combine field‐sampling, genetics, climatic analyses, and machine learning to understand a flower color polymorphism in the wide‐ranging desert annual Encelia farinosa. Results: We find evidence for replicated transitions in disk floret color from brown to yellow across spatial scales, with the most prominent cline stretching ~100 km from southwestern United States into México. Because population structure across the cline is minimal, selection is more likely than drift to have an important role in determining cline width. Conclusions: Given that the cline aligns with a climatic transition but there is no evidence for pollinator preference for flower color, we hypothesize that floret color likely varies as a function of climatic conditions. [ABSTRACT FROM AUTHOR]

Biscogniauxia mediterranea is a pathogenic fungus associated with Quercus species causing charcoal canker disease in forests. Its phenotypic and genetic variability has been well studied in Tunisia but little is known about its demographic history. Population dynamic of B. mediterranea was evaluated among 30 isolates from different cork oak forests in Northwestern Tunisia. The genetic structure analyzed with two DNA markers (ITS and tef-1α) showed low genetic differentiation associated with high genetic flow among populations. The polymorphism analysis showed low nucleotide diversity but high haplotypic diversity among and within B. mediterranea populations which could be due to rapid growth from a small ancestral population. This hints at recent population growth after a period of decline likely due to a catastrophic event involving fires and human-induced tree cutting. The resulting genetic diversity within populations primarily arises from the emergence of new haplotypes. Overall, this study provides insights into the polymorphism of B. mediterranea and its potential adaptive strategy. [ABSTRACT FROM AUTHOR]

Closely related and young species often show high morphological similarity, challenging their identification and correct assignment. Molecular markers and integrative approaches have contributed to solving many taxonomic uncertainties. In this study, we evaluated the genetic variability and ecological features of Petunia guarapuavensis and Petunia scheideana , over which there is a taxonomic debate. Both species are endemic and rare, distributed in the subtropical highland grasslands in southern South America. We based our analyses on nuclear microsatellite and plastid sequences, aiming to disentangle the taxonomic ambiguities that made some consider these entities synonymous despite occupying different clades in the genus phylogenetic tree. Our findings support that there is genetic differentiation between these species, suggesting that they are independent taxonomic entities despite sharing floral traits and a few molecular polymorphisms. The low genetic sharing between the species is likely due to a common ancestor and recent divergence time. In contrast, their morphological similarity can be attributed to the absence of selective pressure, as both grow under similar ecological conditions. This study emphasizes that adding more than one sequence per species, combining data with dissimilar inheritance patterns, and exploring data through different methodologies help to disentangle taxonomic incongruences and reveal diversity that might otherwise remain hidden. [ABSTRACT FROM AUTHOR]

The loss of one of the two copies of the 9 bp tandem repeat sequence (CCCCCTCTA) located in the small non-coding region between the cytochrome oxidase II (COII) and the lysine tRNA genes in human mtDNA has been reported to be polymorphic in Asian, Oceanian and Sub-Saharan African populations, but it has rarely been observed in Europe. In this study, we will evaluate the possible association between the MIC9D polymorphism and cognitive disorders. A genetic analysis of unrelated Sicilian patients with cognitive deficits was performed to identify the 9 bp deletion MIC9D polymorphism. The MIC9D polymorphism was found in six patients, whereas this variant was absent in control individuals without cognitive deficits. The patients with the MIC9D polymorphism exhibited more complex clinical presentations; in particular, all had neuromuscular disorders and five also presented with behavioral disorders. The present study suggests a potential association between the MIC9D polymorphism and cognitive impairment with concurrent neuromuscular and behavioral involvement. [ABSTRACT FROM AUTHOR]

Body temperature is a key physiological trait for individual fitness. Its effects on behavior and metabolism determine organismal activity. Optimal body temperature can vary among individuals, and consequent activity asynchrony can thus enable the co-occurrence of otherwise competing social strategies. Here, we combine ex-situ experiments with environmental data to test whether variability in thermal traits can explain the maintenance of the alternative reproductive strategies of Tropidurus semitaeniatus (Spix, 1825) male morphs. We predict that morphs and sexes differ in thermal traits. Thus, we tested for differences in their behaviorally determined thermal traits: preferred (Tp), body (Tb), and habitat temperatures; basking cover preference (Coverpref); and physiological limits (critical thermal minimum CTmin; and maximum, CTmax). We also calculated T. semitaeniatus' thermal tolerance traits and compiled a list of Tp for Tropidurids. We found that T. semitaeniatus maintains its Tb below Tp. In addition, and contrary to theoretical predictions for tropical lizards, we found that T. semitaeniatus has a high warming tolerance (8.3 °C) and thermal safety margin (2.4 °C). We found no thermal differences between morphs indicating that thermal ecology does not play a role in the co-existence of color morphs. [ABSTRACT FROM AUTHOR]