Genotypic Differences Research Articles

Isolated anterior cerebral artery occlusion: an atypical form of moyamoya disease

BackgroundThe relationship between anterior cerebral artery (ACA) occlusion and moyamoya disease (MMD) has rarely been studied. In this study, we focused on a special type of MMD: isolated ACA-occlusive MMD....

Comparative analysis of antimicrobial resistance phenotype and genotype of Riemerella anatipestifer

Riemerella anatipestifer is one of the important bacterial pathogens that threaten the waterfowl farming industry. In this study, 157 suspected R. anatipestifer strains were isolated from diseased ducks and geese from seven regions of China during 2019–2020, and identified using multiple polymerase chain reaction (PCR). Antimicrobial susceptibility tests and whole-genome sequence (WGS) analysis were then performed for comparative analysis of antimicrobial resistance phenotypes and genotypes. The results showed that these strains were susceptible to florfenicol, ceftriaxone, spectinomycin, sulfafurazole and cefepime, but resistant to kanamycin, amikacin, gentamicin, and streptomycin, exhibiting multiple antimicrobial resistance phenotypes. WGS analysis revealed a wide distribution of genotypes among the 157 strains with no apparent regional pattern. Through next-generation sequencing analysis of antimicrobial resistance genes, a total of 88 resistance genes were identified. Of them, 19 tetracycline resistance genes were most commonly found, followed by 15 efflux pump resistance genes, 11 glycopeptide resistance genes and seven macrolide resistance genes. The 157 R. anatipestifer strains contained 42–55 resistance genes each, with the strains carrying 47 different resistance genes being the most abundant. By comparing the antimicrobial resistance phenotype and genotype, it was observed that a high correlation between them for most antimicrobial resistance properties was detected, except for a difference in aminoglycoside resistance phenotype and genotype. In conclusion, 157 R. anatipestifer strains exhibited severe multiple antimicrobial resistance phenotypes and genotypes, emphasizing the need for improved antimicrobial usage guidelines. The wide distribution and diverse types of resistance genes among these strains provide a foundation for studying novel mechanisms of antimicrobial resistance.

Mathematical model of the dependence between cerebral ventricular size and capillary pressure in laboratory animals

Aim: To adapt a mathematical model describing the interaction between fluid media and brain matter for the purpose of definition of the dependence between brain ventricle size and capillary pressure in laboratory animals of two genotypes, BALB/c and C57BL/6. Material and methods. The study included 4 male mice of each inbred strain C57BL/6 and BALB/c at the age of 12 weeks. The brain and cerebrospinal fluid system images were obtained using an 11.7 T horizontal MR scanner (Bruker, BioSpec 117/16 USR, Germany). An axial section at the level of -0.5 mm from bregma was chosen as the geometry for mathematical modelling. To describe the data obtained, the mathematical model was adapted by selecting a scale factor based on the known values of the cerebrospinal fluid formation rate for humans and mice. Results and discussion. The same qualitative pattern of relationship between capillary pressure and mean ventricular wall displacement was observed for all animals considered. Although the selected genetic strains of BALB/c and C57Bl mice differ significantly in terms of cerebral ventricle size, these differences in animal genotype did not affect the nature of this relationship. Changing the parameters of the fluid media interaction in the area of compression or moderate ventricular dilation almost does not lead to an exit from the physiologically acceptable capillary pressure value. In this case, the size of the ventricles changes significantly. In the area of large ventricular dilation, in contrast, there is little change in ventricular size, and this is accompanied by a dramatic increase in capillary pressure far beyond physiologic limits. Thus, the change in ventricular size is an adaptive process associated with pressure fluctuations caused by changes in intracranial fluid flow. The mere fact that some of the values reach the zone of physiologically unacceptable pressures associated, in fact, with death, provided that there is practically no change in ventricular size indicates that such a situation is rarely realized and is possible in case of violation of intracranial fluid media flows associated with the fact that the increase in ventricular size limits adaptive capabilities. Conclusions. The presented animal model will further increase the understanding of the pattern we have established and allow us to move on to attempts at prediction.

Identification of single nucleotide polymorphisms (SNPs) in selected rice phosphate transporter (OsPHT) genes

Phosphorus (P) is one of the fundamental elements for plant growth and development. Due to the scarcity of viable P in the soil for plants, P deficiency was often the culprit that restrained plant’s wellbeing. Plasma membrane phosphate transporters (PHT) are a group of proteins responsible for phosphate (Pi) uptake from soil and further allocation to plant organs and tissues. The PHT can be further categorized into constitutively expressed low-affinity Pi transporter or high-affinity Pi transporter that are induced upon Pi starvation. Significant variability in P use efficiency has been observed among different rice varieties. Genotypic differences such as single nucleotide polymorphisms (SNPs) could be responsible for the variation observed aside from the well-studied phenotypic responses. Nevertheless, the occurrence of the SNPs in OsPHT genes remain unexplored. Therefore, the objective of this study was to analyse and profile the SNPs in five selected high affinity OsPHT genes which are responsible for P uptake under P deficiency. The SNPs mining was conducted using Rice SNP-Seek Database against 3024 rice varieties with Oryza sativa japonica cultivar Nipponbare as the reference sequence. Results showed that a total of zero, seven, three, one and ten non-synonymous SNPs was identified in OsPHT1;2, OsPHT1;3, OsPHT1;6, OsPHT1;9 and OsPHT1;10, respectively. A base substitution of C to A at position 16028497 of chromosome 10 of OsPHT1;3 was found to change tyrosine to a stop codon. This could result in a truncated protein which has only 213 amino acids as compared 526 amino acids in the complete protein. The large number of non-synonymous SNPs in OsPHT1;10 could explain the redundant function of this gene in the translocation and uptake of P in rice. In short, the identified SNPs especially the non-synonymous SNPs could potentially disrupt the biosynthesis of phosphate in rice which requires further investigation.

HOMER1 Polymorphism and Parkinson's Disease-Psychosis: Is there an Association?

Homer1, a postsynaptic protein coded by the HOMER1 gene, presumably has a role in homeostatic plasticity that dampens neuronal responsiveness when the input activity is too high. HOMER1 polymorphism has been studied in major psychiatric disorders such as schizophrenia. The objective of this study is to investigate if polymorphisms of the HOMER1 gene are associated with psychosis in Parkinson's disease (PD-P). One hundred patients with Parkinson's disease (PD) and 100 healthy controls were enrolled consecutively in a PD-P biomarker study at the National Institute of Mental Health and Neurosciences, Bangalore, India. Of the 100 PD patients, 50 had psychosis (PD-P) and 50 did not have psychosis (PD-NP). Two single-nucleotide polymorphisms of HOMER1 (rs4704559 and rs4704560) were analyzed from the DNA isolated from peripheral blood. The allele and genotype frequencies in the PD-P and PD-NP groups were compared. Analysis of HOMER1 rs4704560 revealed a significant difference in both genotype and allele levels between PD-P and PD-NP groups. There was an overrepresentation of T-allele (42% vs. 16%; P < 0.001) and TT genotype (24% vs. 6%; P < 0.001) in the PD-P group compared to PD-NP group. There was no significant difference between PD-P and PD-NP groups when various genotypes and allele frequencies related to HOMER1 rs4704559 were compared. PD-P is probably associated with overrepresentation of T-allele of HOMER1 rs4704560, and larger studies are warranted to confirm our results.

Application of mobile fluorescence spectroscopy in determination of varietal differences in Spinach (Spinacia oleracea L.)

Abstract. The present study aims to establish the application of fluorescence spectroscopy as a mobile field method in the determination of varietal differences in Spinach (Spinacia oleracea L.). The experimental studies were conducted on site at the farm where the spinach accessions were grown. Fluorescence analysis was conducted using a light source emitting at a wavelength of 285 nm and a mobile fiber-optic experimental setup developed by the authors. The subjects of this research are leaves from Rembord, Marishka, Marquisa, and Victoria. The correlation between the emission signals of the samples was established. This discovery enables the successful application of mobile fluorescence spectroscopy as a rapid tool for determining the origin of unknown leaves. The results from the experiment can be used to optimize the timing for analyzing varietal differences in spinach genotypes after harvest. Fluorescence spectroscopy in a fiber-optical configuration will support the process of determining the belonging of a specific variety to a given variety, even for samples of unknown origin, when it is necessary to qualify the result of аccessions in a short time.

Bee venom genotoxicity on Saccharomyces cerevisiae cells – the role of mitochondria and YAP1 transcription factor

The present work aims to clarify the genotype differences of a model organism Saccharomyces cerevisiae in response to bee venom.The study evaluated various endpoints including cell survival, induction of physiologically active superoxide anions, mitotic gene conversion, mitotic crossing-over, reverse mutations, DNA double-strand breaks, and Ty1 retrotransposition. The role of the intact mitochondria and the YAP1 transcription factor was also evaluated.Our results indicate a genotype-specific response. The first experimental evidence has been provided that bee venom induces physiologically active superoxide anions and DNA double-strand breaks in S. cerevisiae. The lack of oxidative phosphorylation due to disrupted or missing mitochondrial DNA reduces but not diminishes the cytotoxicity of bee venom. The possible modes of action could be considered direct damage to membranes (cytotoxic effect) and indirect damage to DNA through oxidative stress (genotoxic effect). YAP1 transcription factor was not found to be directly involved in cell defense against bee venom treatment.

Glutathione S-transferase M1, T1, and P1 polymorphisms and periodontitis in a Caucasian population: a case-control study

BackgroundGlutathione S-transferases (GSTs) play important roles in protecting cells against oxidative stress and toxic chemicals. This study aimed to investigate the distribution of GSTM1, GSTT1, and GSTP1 variants and their roles in periodontitis susceptibility in a Caucasian population.MethodsWe analyzed 406 participants, including 204 healthy controls and 203 periodontitis patients. A multiplex polymerase chain reaction (PCR) approach was used to analyze GSTM1 and GSTT1 loci. GSTP1 variants were detected by PCR-haplotyping method in a subgroup of participants (N = 350). Chi-square or Fisher´s exact tests were used to compare genotypic and allelic differences. The Bonferroni method was applied to correct for multiple comparisons (pcorr).ResultsThe GSTM1 genotype distribution did not differ significantly between controls and periodontitis patients (p = 0.44). Additionally, the wild/null genotypes of GSTT1, Ile105Val and Ala114Val frequencies of GSTP1 were not significantly different between the two groups after correction for multiple comparisons (p = 0.05, p = 0.55, p = 0.02, pcorr>0.05, respectively). The GSTM1 and GSTP1 Ile105Val gene variants were similarly distributed between non-smokers and smokers in both groups (p = 0.38, p = 0.20, and p = 0.14, p = 0.35, respectively). However, the wild genotype of the GSTT1 and Ala114Ala variant of the GSTP1 genes were present more frequently in non-smoking periodontitis patients than in non-smoking controls (p = 0.03, pcorr>0.05, and p = 0.009, pcorr>0.05, respectively) although their frequencies did not differ between smoking periodontitis patients and smoking controls (p = 0.23, p = 0.68, respectively).ConclusionsThis study in a Czech Caucasian population did not confirm a highly significant association between GST gene variants and susceptibility to periodontitis, as previously reported by Arshad and colleagues in Pakistanis. However, a weak relationship between GSTT1 and GSTP1 rs1138272 polymorphisms and periodontitis in non-smokers was observed.

Genotypic difference in physico-chemical grain composition of three species of grain amaranth selected for the Brazilian Savannah

Seventeen genotypes, representing three species of grain amaranth, were analyzed for physico-chemical components. These genotypes are considered outstanding in terms of agronomical performance, necessitating an understanding of protein, lipids, fiber, and carbohydrate content. It has been demonstrated that A. cruentus, A. hypochondriacus, and A. caudatus differ in the content and properties of these compounds. Based on field experiments conducted in the Brazilian Savannahs, these genotypes were initially tested for germination and vigor after 12 years of storage under low moisture conditions at 10°C in air-tight plastic bags. Assuming that the physico-chemical characteristics were maintained, as indicated by an average 80% germination rate, samples of amaranth seeds were milled and used for analysis. The results indicate protein content below expectations, with the highest values above 14g per 100g, while lipids, fiber, and carbohydrates are within the expected range. The possible factors to explain these results are related to the cultivation environment, although genotypic differences are also significant. Additional testing with broad-based selected lines is necessary to improve selection for both agronomic and physico-chemical composition. The present results suggest that efforts should be concentrated on A. cruentus and A. hypochondriacus.

In ovo feeding of methionine affects antioxidant status and growth-related gene expression of TETRA SL and Hungarian indigenous chicks

Methionine (Met) plays a substantial role in poultry due to its involvement in several pathways, including enhancing antioxidant status and improving growth performance and health status. This study examined how in ovo feeding of Met affects hatching performance, antioxidant status, and hepatic gene expression related to growth and immunity in the TETRA-SL LL hybrid (TSL) commercial layer and Hungarian partridge colored hen (HPC) indigenous genotypes. The eggs were injected with saline, DL-Met, and L-Met on 17.5 days of embryonic development. The results showed that the in ovo feeding of DL-Met significantly increased the hatching weight and ferric reducing the ability of the plasma (FRAP) compared with L-Met. The in ovo feeding of either Met source enhanced the liver health and function and hepatic antioxidant status of the chicks. The genotype’s differences were significant; the TSL genotype had better hatching weight, an antioxidant defense system, and downregulated growth-related gene expression than the HPC genotype. In ovo feeding of either Met source enhanced the chicks' health status and antioxidant status, and DL-Met improved the hatching weight of the chicks more than L-Met. Genotype differences were significantly evident in the responses of growth performance, antioxidant status, blood biochemical parameters, and gene expression to Met sources.

Effects of Cd Stress on Morphological and Physiological Characteristics of Maize Seedlings

Heavy metal (HM) contamination poses a serious threat to safe crop production and human health, and different maize inbred lines respond differently to cadmium (Cd) stress. However, the morphological and physiological characteristics of maize inbred lines seedlings are not clear under Cd stress. In this study, we analyzed the agronomic traits and physiological and biochemical indices of inbred maize seedlings under Cd stress in the seedling stage using the inbred lines Kui3, CML118, Mo17, B73, and B77 as the materials. These five inbred maizes were treated with five different concentrations of Cd (0, 1, 3, 5, and 7 mg L−1, respectively) were applied and the indices of the maize seedlings determined on day 15. The aboveground and belowground biomass of five maize inbred lines seedlings showed a decreasing trend under Cd stress. Leaf relative water content and SPAD values also decreased, but the overall decrease in relative water content was small, and the differences were not significant. Surprisingly, Cd stress affected the activities of superoxide dismutase (SOD), peroxidase (POD), and catalase (CAT), leading to enhanced mem-brane lipid peroxidation. The cadmium content varied greatly between varieties under Cd stress, but all of them had lower Cd content above ground than below ground, and the varieties with the highest and lowest transfer coefficients were Mo17 (0.33–0.83) and B73 (0.06–0.44), respectively. Kui3 had the greatest difference in soluble protein content under Cd stress, which showed a de-creasing trend, and the soluble sugar content was significantly decreased in general compared to that of CK. The soluble sugar content was higher than CK under Cd treatment, and the proline content of the maize seedlings of all of the inbred lines showed an increasing trend compared to CK. Overall, there were significant genotypic differences in the Cd stress response to Cd toxicity in the maize inbred lines seedlings, and, in general, this study helps us to understand the mechanism of maize inbred lines seedlings response to Cd stress. It provides a theoretical basis for the se-lection and breeding of varieties, and food safety.

Genetic evaluation of hulless barley (Hordeum vulgare) genotypes for morpho-physiological traits and stripe rust resistance

Nowadays, hulless barley (Hordeum vulgare L.) is gaining importance as a raw material for food industry due to its highly nutritive value. Non-availability of high yield and disease resistant varieties has restricted its production in marginal areas over the last two decades. Therefore, an experiment was conducted during 2017–18 and 2018–19 at the Seed and Research Farm of ICAR-Indian Institute of Wheat and Barley Research, Karnal, Haryana to characterized 11 exotic hulless barley genotypes and 4 Indian barley cultivars for morpho-physiological characters and stripe rust resistance. Seedling resistant test for stripe rust was done at Regional Station (ICAR-Indian Institute of Wheat and Barley Research), Flowerdale, Shimla, Himachal Pradesh. Highly significant genotypic differences were found for morpho-physiological traits during analysis of variance. Genotype DWRNB28 showed a good combination of desirable traits, viz. early maturity (118 days), dwarf plant height (64.4 cm) and high 1000-grain weight (55.2 g). Maximum number of tillers per meter (149) was observed in DWRNB17. Genotype DWRNB25 was found resistant to maximum pathotypes (6S0, 7S0, and Q) at the seedling stage. DWRNB23 and DWRNB25 with pooled ACI=0 and ACI=0.04 respectively, were found immune to stripe rust in field conditions. These promising genotypes can be utilized as donor parents for the development of high-yielding and stripe-rust-resistant hulless barley varieties.

Effect of NaCl on ammonium and nitrate uptake and transport in salt-tolerant and salt-sensitive poplars.

Nitrogen (N) plays an important role in mitigating salt stress in tree species. We investigate the genotypic differences in the uptake of ammonium (NH4+) and nitrate (NO3-) and the importance for salt tolerance in two contrasting poplars, salt-tolerant Populus euphratica Oliv. and salt-sensitive P. simonii × (P. pyramidalis ×Salix matsudana) (P. popularis cv. 35-44, P. popularis). Total N content, growth and photosynthesis were significantly reduced in P. popularis after 7days of exposure to NaCl (100mM) supplied with 1mM NH4+ and 1mM NO3-, while the salt effects were not pronounced in P. euphratica. The 15NH4+ trace and root flux profiles showed that salt-stressed poplars retained ammonium uptake, which was related to the upregulation of ammonium transporters (AMTs) in roots, as two of the four AMTs tested significantly increased in salt-stressed P. euphratica (i.e., AMT1.2, 2.1) and P. popularis (i.e., AMT1.1, 1.6). It should be noted that P. euphratica differs from salt-sensitive poplar in the maintenance of NO3- under salinity. 15NO3- tracing and root flux profiles showed that P. euphratica maintained nitrate uptake and transport, while the capacity to uptake NO3- was limited in salt-sensitive P. popularis. Salt increased the transcription of nitrate transporters (NRTs), NRT1.1, 1.2, 2.4, 3.1, in P. euphratica, while P. popularis showed a decrease in the transcripts of NRT1.1, 2.4, 3.1 after 7days of salt stress. Furthermore, salt-stimulated transcription of plasmalemma H+-ATPases (HAs), HA2, HA4 and HA11 contributed to H+-pump activation and NO3- uptake in P. euphratica. However, salt stimulation of HAs was less pronounced in P. popularis, where a decrease in HA2 transcripts was observed in the stressed roots. We conclude that the salinity-decreased transcripts of NRTs and HAs reduced the ability to uptake NO3- in P. popularis, resulting in limited nitrogen supply. In comparison, P. euphratica maintains NH4+ and NO3- supply, mitigating the negative effects of salt stress.

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.

Biallelic pathogenic variants in RMRP, the gene encoding the RNA component of RNase mitochondrial RNA processing enzyme complex, have been reported in individuals with cartilage hair hypoplasia (CHH). CHH is prevalent in Finnish and Amish populations due to a founder pathogenic variant, n.71A > G. Based on the manifestations in the Finnish and Amish individuals, the hallmarks of CHH are prenatal-onset growth failure, metaphyseal dysplasia, hair hypoplasia, immunodeficiency, and other extraskeletal manifestations. Herein, we report six Japanese individuals with CHH from four families. All probands presented with moderate short stature with mild metaphyseal dysplasia or brachydactyly. One of them had hair hypoplasia and the other immunodeficiency. By contrast, the affected siblings of two families showed only mild short stature. We also reviewed all previously reported 13 Japanese individuals. No n.71A > G allele was detected. The proportions of Japanese versus Finnish individuals were 0% versus 70% for birth length < -2.0 SD, 84% versus 100% for metaphyseal dysplasia and 26% versus 88% for hair hypoplasia. Milder manifestations in the Japanese individuals may be related to the difference of genotypes. The mildest form of CHH phenotypes is mild short stature without overt skeletal alteration or extraskeletal manifestation and can be termed "RMRP-related short stature".

Polymorphic Variants of SCN5A Gene (rs41312433 and rs1805124) Associated with Coronary Artery Affliction in Patients with Severe Arrhythmias.

A group of 32 unrelated individuals, aged 63 ± 12 years, was included in the study. All the patients were examined, diagnosed and treated with an implantable cardioverter defibrillator at the Department of Internal Cardiology Medicine, Faculty Hospital Brno. The control group included 87 persons of similar age without afflicted coronary circulation, which was confirmed coronagraphically. Genomic DNA was extracted from samples of peripheral blood according to the standard protocol. Two SCN5A polymorphisms-IVS9-3C/A (rs41312433) and A1673G (rs1805124, H558R)-were examined in association with coronary artery stenosis in the patients. In the case-control study, no significant differences in genotype distribution/allelic frequencies were observed for IVS9-3c>a and A1673G gene polymorphisms between patients with severe arrhythmias and healthy persons. The distribution of SCN5A double genotypes was not significantly different among different types of arrhythmias according to their ejection fraction in arrhythmic patients (p = 0.396). The ventricular arrhythmias with an ejection fraction below 40% were found to be 10.67 times more frequent in patients with multiple coronary stenosis with clinically valid sensitivity, specificity and power tests. In the genotype-phenotype study, we observed a significant association of both SCN5A polymorphisms with the stenosis of coronary vessels in the patients with severe arrhythmia. The double genotype of polymorphisms IVS9-3C/A together with A1673G (CCAA) as well as their simple genotypes were associated with significant multiple stenosis of coronary arteries (MVS) with high sensitivity and specificity (p = 0.05; OR = 5 (95% CI 0.99-23.34); sensitivity 0.70; specificity 0.682; power test 0.359) Moreover, when a concrete stenotic coronary artery was associated with SCN5A genotypes, the CCAA double genotype was observed to be five times more frequent in patients with significant stenosis in the right coronary artery (RCA) compared to those without affliction of this coronary artery (p = 0.05; OR = 5 (95% CI 0.99-23.34); sensitivity 0.682; specificity 0.700; power test 0.359). The CCAA genotype was also more frequent in patients without RCA affliction with MVS (p = 0.008); in patients with ACD affliction but without MVS (p = 0.008); and in patients with both ACD affliction and MVS compared to those without ACD affliction and MVS (p = 0.005). Our study presents a highly sensitive and specific association of two polymorphisms in SCN5A with significant coronary artery stenoses in patients with potentially fatal ventricular arrhythmias. At the same time, these polymorphisms were not associated with arrhythmias themselves. Thus, SCN5A gene polymorphic variants may form a part of germ cell gene predisposition to ischemia.

Analysis of age-specified and genotype distribution of HPV multiple infections in the Chinese population.

Multiple infections are a key component of HPV pathogenesis and have a direct impact on how an infection turns out. It's crucial to look at the associations between HPV multiple infections and both age and HPV genotypes in the Chinese population, searching for the causative factors of multiple infections with a view to providing new ideas for the treatment and prevention of multiple infections. In this study, we retrospectively analyzed the data of HPV infections among outpatients from the 2019year to the 2021year of Shandong Maternal and Child Health Hospital. Analyzed the correlation between HPV multiple infections and age using logistic regression. Differences in the percentage of multiple infections between age groups were compared using the chi-square test. The chi-square test compared the differences in the distribution of 15 common HPV genotypes in mono- versus multiple infections. A two-dimensional matrix presented the frequency of HPV genotype combinations. Logistics regression analysis showed that age was significantly associated with the occurrence of multiple infections, with a dominance ratio OR 1.026 (95% CI 1.02-1.04). Interestingly, the proportion of HPV multiple infections among HPV-positive individuals increases with age in people older than 30years of age. The chi-square test showed there was a difference in the distribution of HPV genotypes between multiple infections and mono- HPV infection (χ2 = 76.4; p = 0.000), a difference in the composition of HPV genotypes for dual versus single infections (χ2 = 90.6; p = 0.000) and a difference in HPV genotypes for triple versus single infections (χ2 = 56.7; p = 0.000). A 2 × 2 matrix showed that the combination of HPV52/HPV58 (30; 6.4%) was the combination of the highest frequency of infection for dual infections; The HPV52/HPV58 (21; 4.8%) combination was the highest frequency of HPV tripleinfection combination. HPV multiple infections were positively correlated with age; increasing age was positively correlated with the proportion of HPV multiple infections in the total infected population; the distribution of the 15 common genotypes of HPV differed between multiple infections and single infections; and HPV52:58 was a common type of infection combination in the Shandong population.

BioMEL: a translational research biobank of melanocytic lesions and melanoma

IntroductionDiagnosing invasive cutaneous melanoma (CM) can be challenging due to subjectivity in distinguishing equivocal nevi, melanoma in situ and thin CMs. The underlying molecular mechanisms of progression from nevus to...

Insight into the Physiological Traits Underlying the Genotypic Differences in Response of Durum Wheat (Triticum durum Desf.) to Boron Availability

Insight into the Physiological Traits Underlying the Genotypic Differences in Response of Durum Wheat (Triticum durum Desf.) to Boron Availability

Parthenocarpic fruit quality and production under pollinator-exclusion in southern highbush blueberry

Parthenocarpy is the phenomenon of seedless fruit formation without fertilization. This trait has drawn the attention of many fruit and vegetable breeders due to its ability to overcome insufficient pollination and secure yield. Blueberry (Vaccinium spp.) maintains one of the highest pollination requirements of all crops, demanding growers invest in seasonal pollination services. Nevertheless, blueberry continues to suffer from suboptimal fruit set due to ineffective honeybee pollination, and adverse weather conditions during the brief bloom period. Therefore, developing parthenocarpic blueberry cultivars could provide an economical and effective way to ensure fruit set with decreased dependency on seasonal pollination services. However, the effects of parthenocarpy on berry quality and production-related traits in blueberry is unknown. Therefore, this study aims to evaluate these characteristics in 13 southern highbush blueberry genotypes under two pollination conditions (open-pollination and pollinator-exclusion cages). Open-pollinated and non-pollinated fruits from the 13 blueberry genotypes were assessed for seededness, firmness, size, sugar-to-acid ratio, fruit set, yield, week of peak harvest, and the duration of the fruit development period. Non-pollinated parthenocarpic fruits took longer to develop and tended to be smaller, sweeter, and less firm than open-pollinated fruits. Despite these differences, most parthenocarpic fruits still met market standards. Genotypic differences were also observed, suggesting the opportunity to select for enhanced parthenocarpy in future populations. The results of this study demonstrate that facultative parthenocarpy can be exploited and incorporated into blueberry breeding programs to ensure proper yield in inadequate pollination conditions.

Genetic polymorphism of WNT9A is functionally associated with thumb osteoarthritis in the Chinese population

BackgroundIn a recent genome-wide association study, novel genetic variations of WNT9A were reported to be involved in the etiopathogenesis of thumb osteoarthritis (TOA) in Caucasians. Our purposes were to replicate the association of WNT9A with the development of TOA in the Chinese population and to further unveil the functional role of the risk variants.MethodsSNP rs11588850 of WNT9A were genotyped in 953 TOA patients and 1124 healthy controls. The differences of genotype and allele distributions between the patients and healthy controls were evaluated using the Chi-square test. Luciferase Reporter Assay was performed to investigate the influence of variant on the gene expression.ResultsThere was significantly lower frequency of genotype AA in TOA patients than in the controls 74.9% vs. 81.9%, p < 0.001). The frequency of allele A was remarkably lower in the patients than in the controls (86.3% vs. 90.5%, p < 0.001), with an odds ratio of 0.66 (95% CI = 0.54–0.80). Luciferase Reporter Assay showed that the construct containing mutant allele G of rs11588850 displayed 29.1% higher enhancer activity than the wild allele A construct (p < 0.05).ConclusionsAllele G of rs11588850 was associated with the increased risk of TOA possibly via up-regulation of WNT9A expression. Further functional analysis into the regulatory role of rs11588850 in WNT9A expression can shed new light on the genetic architecture of TOA.