Differences In Genetic Diversity Research Articles

Material Selection for Restoration of Genetic Diversity of Abies koreana on Mt. Jirisan in South Korea

: A strategy is required for selecting appropriate materials for the restoration of Abies koreana on Mt. Jirisan, where the habitat of A. koreana is continuously shrinking. The current study aimed to analyze the genetic characteristics of A. koreana in three subpopulations (Banyabong, Byeoksoryeng, and Cheonwangbong) on Mt. Jirisan using 10 nuclear simple sequence repeat (nSSR) markers and calculate the sampling distance for each subpopulation for avoiding genetically similar samples. Based on the calculated sampling distance, we proposed the size of a sample containing more than 95% of the alleles at a frequency greater than 0.05. AMOVA showed that the difference in genetic variation across subpopulations of A. koreana on Mt. Jirisan was small, approximately 3% of the total. Spatial genetic structure analysis results suggested that it would be appropriate to collect samples of the Banyabong subpopulation at intervals of 10 m or more, when sampling A. koreana, whereas for the Byeoksoryeong and Cheonwangbong subpopulations, samples should be collected at intervals of 20 m or more. Results of random sampling of 5 to 30 individuals indicated that, by applying a 10 m distance within the Banyabong subpopulation, more than 95% of the total alleles with a frequency ≥ 0.05 were secured when more than 25 individuals were extracted. Therefore, as a restoration strategy for A. koreana on Mt. Jirisan, we proposed the collection of more than 25 samples, keeping 10 m distance within the Banyabong subpopulation, which has a relatively high genetic diversity.

The Extent of Edgetic Perturbations in the Human Interactome Caused by Population-Specific Mutations.

Until recently, efforts in population genetics have been focused primarily on people of European ancestry. To attenuate this bias, global population studies, such as the 1000 Genomes Project, have revealed differences in genetic variation across ethnic groups. How many of these differences can be attributed to population-specific traits? To answer this question, the mutation data must be linked with functional outcomes. A new "edgotype" concept has been proposed, which emphasizes the interaction-specific, "edgetic", perturbations caused by mutations in the interacting proteins. In this work, we performed systematic in silico edgetic profiling of ~50,000 non-synonymous SNVs (nsSNVs) from the 1000 Genomes Project by leveraging our semi-supervised learning approach SNP-IN tool on a comprehensive set of over 10,000 protein interaction complexes. We interrogated the functional roles of the variants and their impact on the human interactome and compared the results with the pathogenic variants disrupting PPIs in the same interactome. Our results demonstrated that a considerable number of nsSNVs from healthy populations could rewire the interactome. We also showed that the proteins enriched with interaction-disrupting mutations were associated with diverse functions and had implications in a broad spectrum of diseases. Further analysis indicated that distinct gene edgetic profiles among major populations could shed light on the molecular mechanisms behind the population phenotypic variances. Finally, the network analysis revealed that the disease-associated modules surprisingly harbored a higher density of interaction-disrupting mutations from healthy populations. The variation in the cumulative network damage within these modules could potentially account for the observed disparities in disease susceptibility, which are distinctly specific to certain populations. Our work demonstrates the feasibility of a large-scale in silico edgetic study, and reveals insights into the orchestrated play of population-specific mutations in the human interactome.

Recent evolution of flowering time across multiple European plant species correlates with changes in aridity

Ongoing global warming and increasing drought frequencies impact plant populations and potentially drive rapid evolutionary adaptations. Historical comparisons, where plants grown from seeds collected in the past are compared to plants grown from freshly collected seeds from populations of the same sites, are a powerful method to investigate recent evolutionary changes across many taxa. We used 21–38 years old seeds of 13 European plant species, stored in seed banks and originating from Mediterranean and temperate regions, together with recently collected seeds from the same sites for a greenhouse experiment to investigate shifts in flowering phenology as a potential result of adaptive evolution to changes in drought intensities over the last decades. We further used single nucleotide polymorphism (SNP) markers to quantify relatedness and levels of genetic variation. We found that, across species, current populations grew faster and advanced their flowering. These shifts were correlated with changes in aridity at the population origins, suggesting that increased drought induced evolution of earlier flowering, whereas decreased drought lead to weak or inverse shifts in flowering phenology. In five out of the 13 species, however, the SNP markers detected strong differences in genetic variation and relatedness between the past and current populations collected, indicating that other evolutionary processes may have contributed to changes in phenotypes. Our results suggest that changes in aridity may have influenced the evolutionary trajectories of many plant species in different regions of Europe, and that flowering phenology may be one of the key traits that is rapidly evolving.

Amazonian birds in more dynamic habitats have less population genetic structure and higher gene flow.

Understanding the factors that govern variation in genetic structure across species is key to the study of speciation and population genetics. Genetic structure has been linked to several aspects of life history, such as foraging strategy, habitat association, migration distance, and dispersal ability, all of which might influence dispersal and gene flow. Comparative studies of population genetic data from species with differing life histories provide opportunities to tease apart the role of dispersal in shaping gene flow and population genetic structure. Here, we examine population genetic data from sets of bird species specialized on a series of Amazonian habitat types hypothesized to filter for species with dramatically different dispersal abilities: stable upland forest, dynamic floodplain forest, and highly dynamic riverine islands. Using genome-wide markers, we show that habitat type has a significant effect on population genetic structure, with species in upland forest, floodplain forest, and riverine islands exhibiting progressively lower levels of structure. Although morphological traits used as proxies for individual-level dispersal ability did not explain this pattern, population genetic measures of gene flow are elevated in species from more dynamic riverine habitats. Our results suggest that the habitat in which a species occurs drives the degree of population genetic structuring via its impact on long-term fluctuations in levels of gene flow, with species in highly dynamic habitats having particularly elevated gene flow. These differences in genetic variation across taxa specialized in distinct habitats may lead to disparate responses to environmental change or habitat-specific diversification dynamics over evolutionary time scales.

Abstract P3-05-50: Comprehensive Analysis of Pyroptotic Gene Prognostic Signatures Associated with Tumor Immune Microenvironment and Genomic Mutation in Breast Cancer

Abstract Background: Breast cancer is becoming a tumor with the highest morbidity rate, and inflammation-induced cell death namely pyroptosis reportedly plays dual roles in cancers. However, the specific mechanism between pyroptosis and the clinical prognosis of breast cancer patients is indistinct. Hence, novel pyroptosis-related biomarkers and their contributing factors deserve further exploration to predict the prognosis in breast cancer. Methods: Pearson’s correlation analysis, and univariate and multivariate Cox regression analysis were utilized to obtain six optimal pyroptosis-related gene prognostic signatures (Pyro-GPS). The risk score of each breast cancer patient was calculated. Next, a Pyro-GPS risk model was constructed and verified in TCGA cohort (n=1,089) and GSE20711 cohort (n=88). Then analyses of immune microenvironment, genomic variation, functional enrichment, drug response and clinicopathologic feature stratification associated with the risk score of Pyro-GPS were performed. Ultimately, a nomogram based on the risk score and several significant clinicopathologic features was established. Results: The low-risk breast cancer patients have better survival outcomes than the high-risk patients. The low-risk patients also show higher immune cell infiltration levels and immune-oncology target expression levels. There is no significant difference in genetic variation between the two risk groups, but the frequency of gene mutations varies. Functional enrichment analysis shows that the low-risk patients are prominently correlated with immune-related pathways, whereas the high-risk patients are enriched in cell cycle, ubiquitination, mismatch repair, homologous recombination and biosynthesis-related pathways. Pyro-GPS is positively correlated with the IC50 of anti-tumor drugs. Furthermore, comprehensive analyses based on risk score and clinicopathological features were performed to predict the prognosis of breast cancer patients. Conclusions: The risk score of Pyro-GPS can serve as a promising hallmark to predict the prognosis of BRCA patients. Risk score evaluation may assist to acquire relevant information of tumor immune microenvironment, genomic mutation status, functional pathways and drug sensitivity, and thus provide more effective personalized strategies. Citation Format: Hongfei Zhang, Xiafei Yu, Junzhe Yang, Xiaoan Liu, Yanhui Zhu. Comprehensive Analysis of Pyroptotic Gene Prognostic Signatures Associated with Tumor Immune Microenvironment and Genomic Mutation in Breast Cancer [abstract]. In: Proceedings of the 2022 San Antonio Breast Cancer Symposium; 2022 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2023;83(5 Suppl):Abstract nr P3-05-50.

Comprehensive analysis of pyroptotic gene prognostic signatures associated with tumor immune microenvironment and genomic mutation in breast cancer.

BackgroundBreast cancer is becoming a tumor with the highest morbidity rate, and inflammation-induced cell death namely pyroptosis reportedly plays dual roles in cancers. However, the specific mechanism between pyroptosis and the clinical prognosis of breast cancer patients is indistinct. Hence, novel pyroptosis-related biomarkers and their contributing factors deserve further exploration to predict the prognosis in breast cancer.MethodsPearson’s correlation analysis, and univariate and multivariate Cox regression analysis were utilized to obtain six optimal pyroptosis-related gene prognostic signatures (Pyro-GPS). The risk score of each breast cancer patient was calculated. Next, a Pyro-GPS risk model was constructed and verified in TCGA cohort (n=1,089) and GSE20711 cohort (n=88). Then analyses of immune microenvironment, genomic variation, functional enrichment, drug response and clinicopathologic feature stratification associated with the risk score of Pyro-GPS were performed. Subsequently, a nomogram based on the risk score and several significant clinicopathologic features was established. Ultimately, we further investigated the role of CCL5 in the biological behavior of MDA-MB-231 cell line.ResultsThe low-risk breast cancer patients have better survival outcomes than the high-risk patients. The low-risk patients also show higher immune cell infiltration levels and immune-oncology target expression levels. There is no significant difference in genetic variation between the two risk groups, but the frequency of gene mutations varies. Functional enrichment analysis shows that the low-risk patients are prominently correlated with immune-related pathways, whereas the high-risk patients are enriched in cell cycle, ubiquitination, mismatch repair, homologous recombination and biosynthesis-related pathways. Pyro-GPS is positively correlated with the IC50 of anti-tumor drugs. Furthermore, comprehensive analyses based on risk score and clinicopathological features were performed to predict the prognosis of breast cancer patients. Additionally, in vitro experiments confirmed that breast cancer cells with high expression of CCL5 had weaker proliferation, invasion and metastasis abilities as well as stronger apoptosis and cell cycle arrest abilities.ConclusionsThe risk score of Pyro-GPS can serve as a promising hallmark to predict the prognosis of BRCA patients. Risk score evaluation may assist to acquire relevant information of tumor immune microenvironment, genomic mutation status, functional pathways and drug sensitivity, and thus provide more effective personalized strategies.

Complete Genome Sequence of Weissella cibaria NH9449 and Comprehensive Comparative-Genomic Analysis: Genomic Diversity and Versatility Trait Revealed.

Lactic acid bacteria (LAB) in the genus Weissella spp. contain traits in their genome that confer versatility. In particular, Weissella cibaria encodes several beneficial genes that are useful in biotechnological applications. The complete genome of W. cibaria NH9449 was sequenced and an in silico comparative analysis was performed to gain insight into the genomic diversity among members of the genus Weissella. A total of 219 Weissella genomes were used in a bioinformatics analysis of pan-genomes, phylogenetics, self-defense mechanisms, virulence factors, antimicrobial resistance, and carbohydrate-active enzymes. These investigations showed that the strain NH9449 encodes several restriction-modification-related genes and a CRISPR-Cas region in its genome. The identification of carbohydrate-active enzyme-encoding genes indicated that this strain could be beneficial in biotechnological applications. The comparative genomic analysis reveals the very high genomic diversity in this genus, and some marked differences in genetic variation and genes among Weissella species. The calculated average amino acid identity (AAI) and phylogenetic analysis of core and accessory genes shows the possible existence of three new species in this genus. These new genomic insights into Weissella species and their biological functions could be useful in the food industry and other applications.

Characterization of the large-scale Japanese patient-derived xenograft (J-PDX) library.

The use of patient‐derived xenografts (PDXs) has recently attracted attention as a drug discovery platform with a high predictive clinical efficacy and a preserved tumor heterogeneity. Given the racial differences in genetic variations, it would be desirable to establish a PDX library from Japanese cancer patients on a large scale. We thus tried to construct the Japanese PDX (J‐PDX) library with a detailed clinical information for further clinical utilization. Between August 2018 and May 2020, a total of 1126 cancer specimens from 1079 patients were obtained at the National Cancer Center Hospital and National Cancer Center Hospital East, Japan, and were immediately transplanted to immunodeficient mice at the National Cancer Center Research Institute. A total of 298 cross‐cancer PDXs were successfully established. The time to engraftment varied greatly by cancer subtypes, especially in the first passage. The engraftment rate was strongly affected by the clinical stage and survival time of the original patients. Approximately 1 year was needed from tumor collection to the time when coclinical trials were conducted to test the clinical utility. The 1‐year survival rates of the patients who were involved in establishing the PDX differed significantly, from 95.6% for colorectal cancer to 56.3% for lung cancer. The J‐PDX library consisting of a wide range of cancer subtypes has been successfully established as a platform for drug discovery and development in Japan. When conducting coclinical trials, it is necessary to consider the target cancer type, stage, and engraftment rate in light of this report.

Racial differences in platelet serotonin polymorphisms in acute coronary syndrome

IntroductionGenetic differences between races have been hypothesized to contribute to differences in outcome from acute coronary syndromes (ACS). Our objective was to assess racial differences in genetic variations in the platelet serotonin transporter (5HTT) and receptor in patients with ACS. Materials and methods127 consecutive patients, African Americans (AA) = 27; Caucasian (C) =100, admitted with ACS were evaluated for platelet function by serotonin (5HT) induced platelet activation. All patients were genotyped for two polymorphisms in the serotonin-transporter-linked polymorphic region (5-HTTLPR) S/L and LG/LA and one polymorphism of the serotonin 2A receptor (5-HT2A, T102C) gene. All patients were followed for major and minor adverse cardiac events at 12 months. ResultsAA when compared to C had a lower prevalence of the HTTLPR S allele (21% vs 45%, p = 0.0003) and a higher prevalence of the LG allele (24% vs 4.5%, p = 0.0001). Allelic frequency of the 5-HT2A T102C allele was not significantly different between the races. Platelet activation was lower in AA compared to C, median EC50 5HT was 12.08 μg vs 2.14 μg (p = 0.001). The 5-HTTLPR and the 5-HT2A polymorphisms were not associated with platelet functional responses to serotonin. There were no significant differences in major or minor adverse cardiac events in patients with serotonin transporter or receptor polymorphisms. ConclusionWe found a lower prevalence of the S allele and a higher prevalence of the G allele in AA with ACS. We also found decreased platelet activation in AA which did not correlate with serotonin-related platelet polymorphisms. It is unclear if other contributing factors may explain these platelet functional differences.

Dependence of Lifetime Fitness on Gene-by-Environment Interaction: Effects of Soil Salinity on an Annual Legume

Premise of research. Rapid environmental changes have raised questions about the capacity of plant populations to adapt to novel conditions. Salinity is increasing in both urban and rural areas because of irrigation and road deicing salt. While adaptation to salinity is found in some plant species, salt impairs plant fitness for the vast majority. Breeding to enhance adaptation to salinity has proved difficult, suggesting barriers to adaptation.Methodology. In this project, we assessed the capacity for adaptation to soil salinity. We planted an experimental population of Chamaecrista fasciculata (partridge pea, Fabaceae) in both roadside and greenhouse conditions. We assessed lifetime fitness as a composite of germination, survival, and the number of flowers or fruits produced. We estimated additive genetic variance for fitness in each greenhouse salinity treatment using aster models.Pivotal results. Significant additive genetic variance for fitness was detected in the control treatment in the greenhouse, in the low-salinity treatment in the greenhouse, and in the roadside experimental plot. Gene-by-environment interactions were also significant. This gene-by-environment interaction is caused by both differences in genetic variation among environments and a change in the ranks of the families. In the control and low-salinity treatments in the greenhouse experiment, the relative ranks of fitness among the paternal families visually demonstrate the gene-by-environment interaction.Conclusions. The findings of the roadside experiment demonstrate that this population has the potential to adapt to a salinized environment. This research found a gene-by-environment interaction that may alter the fitness of various families over small geographic scales, such as those found in a roadside. Reducing deicing salt usage may improve the health and quality of roadside ecosystems by enhancing the potential of some species to adapt.

Increased expression of CXCL2 in ACPA-positive rheumatoid arthritis and its role in osteoclastogenesis.

Anti-citrullinated protein/peptide antibodies (ACPA) play important roles in the pathogenesis of rheumatoid arthritis (RA). ACPA-positive (ACPA+ ) and ACPA-negative (ACPA- ) RA were suggested to be different disease subsets, with distinct differences in genetic variation and clinical outcomes. The aims of the present study were to compare gene expression profiles in ACPA+ and ACPA- RA, and to identify novel candidate gene signatures that might serve as therapeutic targets. Comprehensive transcriptome analysis of peripheral blood mononuclear cells (PBMCs) from ACPA+ and ACPA- RA patients and healthy controls was performed via RNA sequencing. A validation cohort was used to further investigate differentially expressed genes via polymerase chain reaction (PCR) and enzyme-linked immunosorbent assay (ELISA). Spearman's correlation test was used to evaluate the correlation of differentially expressed genes and the clinical and laboratory data of the patients. The role of differentially expressed genes in osteoclastogenesis was further investigated. Expression of C-X-C motif chemokine ligand 2 (CXCL2) was significantly increased in ACPA+ RA than in ACPA- RA, which was validated in PBMCs and serum. CXCL2 promoted the migration of CD14+ monocytes and increased osteoclastogenesis in RA patients. RAW264.7 macrophages were used to investigate specific mechanisms, and the results suggested that CXCL2 stimulated osteoclastogenesis via extracellular receptor kinase (ERK) mitogen-activated protein kinase (MAPK) and nuclear factor kappa B pathways. In conclusion, CXCL2 was highly expressed in ACPA+ RA than in ACPA- RA. CXCL2 promoted osteoclastogenesis and was related to bone erosion in RA, which suggests that the blockade of CXCL2 might be a novel strategy for the treatment of RA.

Genetic and epigenetic variations in barley (Hordeum vulgare L.) using SSR and MSAP approaches

Barley (Hordeum vulgare L.) is the fourth largest cereal crop in the world with extensive adaptability in diverse environments. There is increasing evidence that epigenetics contributes to plant evolution and adaptation. However, epigenetic variation in barley and their correlations with genetic variation remains largely unknown. In this study, we investigated epigenetic and genetic diversity in 48 Tibetan wild distribution (TWD) barley accessions, 24 Chinese cultivars (CC), and 24 foreign cultivars (FC) using DNA methylation-sensitive amplified polymorphism and simple sequence repeats. We found a relatively high level of epigenetic (I = 0.639 and h = 0.450) and genetic (I = 0.637 and h = 0.446) diversity in barley, and a significant correlation between epigenetic and genetic variation in barley (R2 = 0.160, P < 0.001). No differences in genetic variation were observed among TWD, CC and FC populations. However, the TWD population had significantly higher epigenetic diversity (I = 0.607 and h = 0.424, P < 0.001) than both cultivated populations (FC: I = 0.584 and h = 0.402; CC: I = 0.544 and h = 0.372). Also, the TWD population had significantly higher average hemi-methylation (20.35%) and full-methylation (25.37%) levels than both cultivated populations (FC: 16.13% and 20.98%, respectively; CC: 15.98% and 18.95%, respectively). This study has provided valuable information on DNA methylation variation across diverse barley accessions and indicated that epigenetic variations might be another factor contributing to barley diversity.

Genetic diversity and population structure of elite drought tolerant bread wheat (Triticum aestivum L.) genotypes

The objective of this study was to assess genetic diversity and population structure of 47 bread wheat genotypes obtained from the International Maize and Wheat Improvement Centre (CIMMYT) using 10 polymorphic simple sequence repeat (SSR) markers. Data was subjected to analysis for generating a dissimilarity matrix by the Jaccard index for clustering by the Neighbour-joining algorithm on DARwin 6.5 software. GenAlex Software was used to analyse the number of detected alleles (Na), number of effective alleles (Ne), observed heterozygosity (Ho), expected heterozygosity (He), genetic distance (GD), genetic identity (GI), gene flow (Nm), fixation index (F), Shannon’s Information Index (I), Analysis of molecular variance (AMOVA) and polymorphic information content (PIC). Results revealed that, at the locus level, marker Xgwm 132 had the highest Na (21), Ne (14.5), Ho (1.0) and He (0.94), while at the population level, Population III had the highest Na (21), Ne (5.59), He (0.83), and I (1.78). The mean PIC recorded was 0.80, and ranged from 0.63 (Wmc 78) to 0.93 (Xgwm 132). AMOVA revealed significant differences in genetic variation allocated within individuals (60%), across different individuals (37%) and across populations (3%) (P &lt; 0.001). Four populations were distinguished based on pedigrees with GD ranging from 0.01 (Populations III and IV) to 0.31 (Populations II and III), while GI ranged from 0.74 (Populations II and III) to 0.99 (Populations III and IV). The selected markers successfully distinguished test genotypes with the most informative marker being Xgwm 132. Populations II and III were most distinct, thus suitable for parental selection and further drought tolerance breeding.

Patterns of DNA variation between the autosomes, the X chromosome and the Y chromosome in Bos taurus genome

The new ARS-UCD1.2 assembly of the bovine genome has considerable improvements over the previous assembly and thus more accurate identification of patterns of genetic variation can be achieved with it. We explored differences in genetic variation between autosomes, the X chromosome, and the Y chromosome. In particular, variant densities, annotations, lengths (only for InDels), nucleotide divergence, and Tajima’s D statistics between chromosomes were considered. Whole-genome DNA sequences of 217 individuals representing different cattle breeds were examined. The analysis included the alignment to the new reference genome and variant identification. 23,655,295 SNPs and 3,758,781 InDels were detected. In contrast to autosomes, both sex chromosomes had negative values of Tajima’s D and lower nucleotide divergence. That implies a correlation between nucleotide diversity and recombination rate, which is obviously reduced for sex chromosomes. Moreover, the accumulation of nonsynonymous mutations on the Y chromosome could be associated with loss of recombination. Also, the relatively lower effective population size for sex chromosomes leads to a lower expected density of variants.

Genetic and functional variation across regional and local scales is associated with climate in a foundational prairie grass.

Global change forecasts in ecosystems require knowledge of within-species diversity, particularly of dominant species within communities. We assessed site-level diversity and capacity for adaptation in Bouteloua gracilis, the dominant species in the Central US shortgrass steppe biome. We quantified genetic diversity from 17 sites across regional scales, north to south from New Mexico to South Dakota, and local scales in northern Colorado. We also quantified phenotype and plasticity within and among sites and determined the extent to which phenotypic diversity in B.gracilis was correlated with climate. Genome sequencing indicated pronounced population structure at the regional scale, and local differences indicated that gene flow and/or dispersal may also be limited. Within a common environment, we found evidence of genetic divergence in biomass-related phenotypes, plasticity, and phenotypic variance, indicating functional divergence and different adaptive potential. Phenotypes were differentiated according to climate, chiefly median Palmer Hydrological Drought Index and other aridity metrics. Our results indicate conclusive differences in genetic variation, phenotype, and plasticity in this species and suggest a mechanism explaining variation in shortgrass steppe community responses to global change. This analysis of B. gracilis intraspecific diversity across spatial scales will improve conservation and management of the shortgrass steppe ecosystem in the future.

Incidence of Keratoconus in Refractive Surgery Population of Vojvodina - Single Center Study.

Introduction: Keratoconus (KCN) is known to affect all ethnicities but its incidence exhibits geographical variability plausibly due to subclinical forms of the disease, differences in diagnostic methods and criteria, or differences in genetic variations in populations.Aim:To examine the prevalence of keratoconus among the refractive surgery population of Vojvodina, who underwent refractive surgery screening at Eye Clinic Svjetlost Novi Sad, Serbia from September 2018 to September 2019. This is a single-center study.Methods:Retrospective analysis of 876 patients who presented for refractive surgery evaluation. Corneal tomographers represent the gold standard in the detection and classification of corneal ectatic diseases and screening is an essential part of the preoperative diagnostics before any refractive surgery. The corneal tomographer used in this study was a Scheimpflug imaging device (Pentacam AXL, Oculus Optikgeräte GmbH, Wetzlar, Germany). The device was realigned before each measurement.Results:Out of a total number of patients, 619 (70,7%) were candidates for corneal refractive surgery procedure, and 257 patients (29.3%) were not. Out of 257 patients that were not candidates for the procedure 157 (61,0%) patients had thin corneas, high myopia/hypermetropia or had some retinal disease; 75 patients (29,1) were keratoconus suspect and 25 patients (9,7%) had keratoconus. KCN patients had a mean age of 29.5 ± 7.7 years, 18 patients (72.0%) were male and 7 patients were female (28%).Conclusion:The most cited annual incidence of KCN is 2 approximately 1 per 2,000. Recent data from the biggest Netherland study revealed many different epidemiological results which deprive keratoconus of the community of rare diseases. The incidence of keratoconus in Vojvodina refractive surgery population presented in our Clinic was 2.9%.

Genetic diversity of three sunu groupers species (Plectropomus spp)

The quality of fish seed may be decreased as a result of inbreeding that is a marriage between two individuals who have the same genetic trait. Fish seed quality improved with the genetic approach to parent selection and crossbreed. Quality of fish seeds is taking from natural populations are determined by the genetic diversity of a population. Inbreeding can decrease the quality of seed because it can increase the number of homozygosity and decrease the number of heterozygosity. This study aims to determine differences in genetic variation three species of sunu groupers (Plectropomus maculatus, Plectropomus leopardus, and Plectropomus oligacanthus) and know the kinship of the three species of grouper. While the benefits of this research can provide information on genetic diversity in natural coral trout grouper, expected inbreeding can be avoided. Muscle and liver tissue was used as a sample for electrophoresis analysis with twelve kinds of enzymes namely aspartate aminotransferase (AAT), Alcohol dehydrogenase (ADH), Estrase (EST), -Gliserofosfat dehydrogenase (-GPD), Glukofosfat isomerase (GPI), Isocitrate dehydrogenase (IDH), Lactate dehydrogenase (EST), Malic dehydrogenase (MDH), Malic Enzyme (ME), 6-phosphogluconate dehydrogenase (6- PGD), phosphoglucomutase (PGM), and sarcoplasmic enzymes (SP). Three polymorphic loci in Plectropomus oligacanthus species are 6-PGD, GPI-2, and PGM. In Plectropomus maculatus, and Plectropomus leopardus all monomorphic loci. The three polymorphic loci on Plectropomus oligacanthus meet the Hardy-Weinberg balance with X2 value for 6-PGD value is 0.123, GPI-2 is 0.028 and PGM is 0.028. Plectropomus oligacanthus has a polymorphism level of 0.188, the total number of the focusing allele is 1,154, and the average heterozygosity is 0.023. The genetic distance between the sepsis population based on twelve enzymes showed between Plectropomus maculatus, and Plectropomus leopardus had a spacing of 0.134, between Plectropomus leopardus and Plectropomus oligacanthus of genetic distance 0.196 and between Plectropomus maculatus and Plectropomus oligacanthus the genetic distance was 0.200. The larger the genetic distance between the species, the kinship relationship will be farther away. The distant kinship is owned by Plectropomus oligacanthus.

Natural Genetic Variation Screen in Drosophila Identifies Wnt Signaling, Mitochondrial Metabolism, and Redox Homeostasis Genes as Modifiers of Apoptosis.

Apoptosis is the primary cause of degeneration in a number of neuronal, muscular, and metabolic disorders. These diseases are subject to a great deal of phenotypic heterogeneity in patient populations, primarily due to differences in genetic variation between individuals. This creates a barrier to effective diagnosis and treatment. Understanding how genetic variation influences apoptosis could lead to the development of new therapeutics and better personalized treatment approaches. In this study, we examine the impact of the natural genetic variation in the Drosophila Genetic Reference Panel (DGRP) on two models of apoptosis-induced retinal degeneration: overexpression of p53 or reaper (rpr). We identify a number of known apoptotic, neural, and developmental genes as candidate modifiers of degeneration. We also use Gene Set Enrichment Analysis (GSEA) to identify pathways that harbor genetic variation that impact these apoptosis models, including Wnt signaling, mitochondrial metabolism, and redox homeostasis. Finally, we demonstrate that many of these candidates have a functional effect on apoptosis and degeneration. These studies provide a number of avenues for modifying genes and pathways of apoptosis-related disease.

English

Hot pepper is the dominant vegetable crop grown in different parts of Ethiopia with long history of cultivation and considerable genetic diversity for most important morphological traits. However, shortage of varieties, the prevalence of fungal and bacterial as well as viral diseases, information is lacking on genetic diversity and genetic information to design genetic resource conservation to improve yield and yield components of hot pepper. The study was undertaken to assess the morphological diversity of 64 hot pepper genotypes at Axum Agricultural Research Centre in Mereb Leke District during the year 2017/2018, using 8&times;8 simple lattice design. Analysis of variance revealed that there were a significant (P&lt;0.01) differences in genetic variation among genotypes for 19 morphological and fruit characters. The genetic distances measured by D2 and Ward&#39;s clustering method was grouped (the 64 genotypes) into seven distinct clusters. The maximum and minimum distances were observed between Clusters III and VII (189.09) and clusters I and V (29.24). This indicated the existence of a possibility to improve genotypes through hybridization from pair of clusters and subsequent selection can be made from the segregants generations. Principal component analysis showed that the first five principal component analysis explained about 79.45% of the total variation. Generally, the study confirmed presence of adequate genetic diversity between any pair of clusters which could be exploited for future variety improvement program. Key words: Capsicum, cluster analysis, principal component analysis. &nbsp;

Effects of Landscape Fragmentation on Genetic Diversity of Male-Biased Dioecious Plant Pistacia chinensis Bunge Populations

Pistacia chinensis Bunge (Anacardiaceae) is a dioecious woody plant of significant economic values that is used in traditional Chinese Medicine as well as for wood production. More importantly, it is one of the ideal tree species for bio-diesel production because of the high oil content in its seeds. In this study, we aim to reveal the effects of landscape fragmentation on the genetic diversity (GD) of the dioecious plant Pistacia chinensis populations. A total of nine microsatellites were used to genotype 180 P. chinensis individuals from six populations to estimate the differences in GD between different populations. The study revealed that genetic diversity of the P. chinensis population as a whole is relatively high in the Thousand-Island Lake (TIL) region, but its fragmented landscape still led to the loss of rare alleles, especially in a fragmented small population, a post-fragmented population, and a male population. The partitioning of a large continuous population into small isolated remnant patches led to the direct loss of genetic diversity and, subsequently, because of the mediated gene flow of seeds and pollen, genetic drift, and the spatial distribution of existing plants, the GD gradually decreased. The restricted gene flow and the increase in self-pollination and inbreeding impaired the population’s long-term development. Therefore, the wild P. chinensis populations in the TIL region needs effective protective measures, including foreign artificial pollination and seedling transplantations.