Cytogenetic analysis of the genus Thoropa Cope, 1865 (Anura-Cycloramphidae) with evolutionary inferences based on repetitive sequences
This study contributes to a better understanding of the evolutionary relationships within the genus; however, the use of different probe sequences, such as satDNA, is essential for a more robust cytogenetic analysis. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - July 6, 2020 Category: Genetics & Stem Cells Source Type: research

Caffeic acid and chlorogenic acid cytotoxicity, genotoxicity and impact on global DNA methylation in human leukemic cell lines
We examined whether caffeic and chlorogenic acid (1-250 µM) exert antitumor action in human promyelocytic leukemia cells (HL-60) and human acute T-cell leukemia cells (Jurkat). Caffeic and chlorogenic acid did not reduce cell viability in the two cell lines, as assessed using the neutral red uptake and MTT assays. These phenolic acids (1-100 μ M) neither induced DNA damage (comet assay) nor increased the micronuclei frequency (micronucleus assay) in HL-60 and Jurkat cells, indicating that they were not genotoxic or mutagenic. Analysis of global DNA methylation levels using a 5-mC DNA ELISA kit revealed that chloro...
Source: Genetics and Molecular Biology - July 3, 2020 Category: Genetics & Stem Cells Source Type: research

Beyond the HLA polymorphism: a complex pattern of genetic susceptibility to pemphigus
Abstract Pemphigus is a group of autoimmune bullous skin diseases that result in significant morbidity. As for other multifactorial autoimmune disorders, environmental factors may trigger the disease in genetically susceptible individuals. The goals of this review are to summarize the state of knowledge about the genetic variation that may affect the susceptibility and pathogenesis of pemphigus vulgaris and pemphigus foliaceus – both the endemic and the sporadic forms – , to compare and discuss the possible meaning of the associations reported, and to propose recommendations for new research initiatives. Unders...
Source: Genetics and Molecular Biology - July 1, 2020 Category: Genetics & Stem Cells Source Type: research

De novo sequencing of Bletilla striata (Orchidaceae) transcriptome and identification of genes involved in polysaccharide biosynthesis
Abstract Bletilla striata polysaccharide (BSP) is the main component of Bletilla striata, which has important pharmacological and pharmacological effects; however, due to the lack of genetic data, the metabolic pathways of BSP remain unclear. For this study, 11 representative resources of B. striata were analyzed, and the BSP contents of the different samples were significantly different; however, the monosaccharide composition of BSP was glucose and mannose. The representative samples were selected to observe their life history in situ, which were then divided and cultured in a greenhouse. Finally, samples from various or...
Source: Genetics and Molecular Biology - June 27, 2020 Category: Genetics & Stem Cells Source Type: research

Systems chemo-biology analysis of DNA damage response and cell cycle effects induced by coal exposure
Abstract Cell cycle alterations are among the principle hallmarks of cancer. Consequently, the study of cell cycle regulators has emerged as an important topic in cancer research, particularly in relation to environmental exposure. Particulate matter and coal dust around coal mines have the potential to induce cell cycle alterations. Therefore, in the present study, we performed chemical analyses to identify the main compounds present in two mineral coal samples from Colombian mines and performed systems chemo-biology analysis to elucidate the interactions between these chemical compounds and proteins associated with the c...
Source: Genetics and Molecular Biology - June 27, 2020 Category: Genetics & Stem Cells Source Type: research

The PAC-3 transcription factor critically regulates phenotype-associated genes in Neurospora crassa
In this study, we used RNA-seq to analyze the phenotypic plasticity induced after pac-3 deletion in the filamentous fungus N. crassa cultivated in media supplemented with sufficient or limited inorganic phosphate. Genes related to morphology, hyphal development, and conidiation were of particular interest in this study. Our results suggest a pac-3 dependency in gene regulation in a Pi-dependent manner. Furthermore, our analysis suggested that the fungus attempts to overcome the deletion effects in a Δ pac-3 mutant through a complex combined regulatory mechanism. Finally, the modulatory responses observed in the &Delt...
Source: Genetics and Molecular Biology - June 22, 2020 Category: Genetics & Stem Cells Source Type: research

Use of DNA barcode in the identification of fish eggs in tributaries of the Paranapanema River basin
Abstract Fish eggs are often excluded from identification analysis since at this stage of development there are few morphological characters. The correct identification of eggs can provide important information about spawning areas of species. The current work aimed to identify fish eggs in the Tibagi and Cinzas Rivers using the DNA barcode to obtain information on richness and diversity, adding to the existing data in the area. Of the 928 sequences analyzed using the BOLD Systems database, 99.78% were able to be identified at a specific level, demonstrating a high success rate for egg identification. The samples resulted ...
Source: Genetics and Molecular Biology - June 22, 2020 Category: Genetics & Stem Cells Source Type: research

MicroRNA-296-5p is differentially expressed in individuals with and without HIV-1 infection
Abstract MicroRNAs are considered as potential biomarkers, agents, or therapeutic targets; few studies have addressed the expression of miRNAs in treatment-na ïve patients infected with HIV-1. The aim of this study was to assess plasma relative circulating miRNA expression profiles in treatment-naïve Mexican patients with HIV/AIDS and healthy individuals using a commercial array. A low CD4+ T cell count and high viral load were found in all patients. De creased relative miRNA-296-5p expression was observed in patients; moreover, this was the only miRNA that showed differences between the two groups. Thus, we meas...
Source: Genetics and Molecular Biology - June 22, 2020 Category: Genetics & Stem Cells Source Type: research

Intense proliferation of rDNA sites and heterochromatic bands in two distantly related Cuscuta species (Convolvulaceae) with very large genomes and symmetric karyotypes
Abstract The genome size varies widely among angiosperms but only a few clades present huge variation at a low phylogenetic level. Among diploid species of the genus Cuscuta the genome size increased enormously in at least two independent lineages: in species of subgenus Monogynella and in at least one species (C. indecora) of the subgenus Grammica. Curiously, the independent events lead to similar karyotypes, with 2n = 30 mostly metacentric chromosomes. In this paper we compared the patterns of heterochromatic bands and rDNA sites of C. indecora and C. monogyna, aiming to evaluate the role of these repetitive fractions in...
Source: Genetics and Molecular Biology - June 16, 2020 Category: Genetics & Stem Cells Source Type: research

Overexpression of AtNCED3 gene improved drought tolerance in soybean in greenhouse and field conditions
Abstract Water deficit is an important climatic problem that can impair agriculture yield and economy. Genetically modified soybean plants containing the AtNCED3 gene were obtained aiming drought-tolerance improvement. The NCED3 gene encodes a 9-cis-epoxycarotenoid dioxygenase (NCED, EC 1.13.11.51), an important enzyme in abscisic acid biosynthesis. ABA activates the expression of drought-responsive genes, in water-deficit conditions, targeting defense mechanisms and enabling plants to survive under low water availability. Results from greenhouse experiments showed that the transgene AtNCED3 and the endogenous genes GmAREB...
Source: Genetics and Molecular Biology - June 16, 2020 Category: Genetics & Stem Cells Source Type: research

The molecular cytogenetic characterization of Conopophaga lineata indicates a common chromosome rearrangement in the Parvorder Furnariida (Aves, Passeriformes)
Abstract Cytogenetic analyses of the Suboscines species are still scarce, and so far, there is no karyotype description of any species belonging to the family Conopophagidae. Thus, the aim of this study is to describe and analyze the karyotype of Conopophaga lineata by chromosome painting using Gallus gallus (GGA) probes and to identify the location of the 18/28S rDNA cluster. Metaphases were obtained from fibroblast culture from two individuals of C. lineata. We observed a diploid number of 2n=78. GGA probes showed that most ancestral syntenies are conserved, except for the fission of GGA1 and GGA2, into two distinct pair...
Source: Genetics and Molecular Biology - June 13, 2020 Category: Genetics & Stem Cells Source Type: research

Wide dispersion of B chromosomes in Rhammatocerus brasiliensis (Orthoptera, Acrididae)
Abstract The grasshopper Rhammatocerus brasiliensis shows polymorphism of B chromosomes, but the magnitude of B-chromosome occurrence and the factors that may contribute to their dispersion in the species remain unknown thus far. The present study analyzed the occurrence and dispersion of B chromosomes in R. brasiliensis individuals from 21 populations widely distributed in the Brazilian Northeast. The genetic connectivity between 10 populations was verified through analysis of ISSR markers from 200 individuals. Of the 21 populations, 19 presented individuals with one B chromosome, three with two, and one with three B chro...
Source: Genetics and Molecular Biology - June 10, 2020 Category: Genetics & Stem Cells Source Type: research

Draft genome sequence of Wickerhamomyces anomalus LBCM1105, isolated from cacha├ža fermentation
We report its draft genome with 20.5x in-depth coverage and around 90% extension and completeness. It harbors the sequences of proteins involved in glycerol transport and metabolism. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - June 8, 2020 Category: Genetics & Stem Cells Source Type: research

Selenium protects against LPS-induced MC3T3-E1 cells apoptosis through modulation of microRNA-155 and PI3K/Akt signaling pathways
Abstract Bone infection or osteomyelitis is usually a complication of inflammation-related traumatic bone injury. Selenium has been shown to have potential cytoprotective effects and the ability to reduce oxidative stress and apoptotic events in osteomyelitis, but the exact mechanism remains unclear. Here, we used LPS-induced apoptotic MC3T3-E1 cells and aimed to confirm selenium's protective effect on cell apoptosis as well as to investigate the underlying mechanisms of this role. Our investigation confirmed selenium-mediated inhibition of LPS-induced cell apoptosis and ROS accumulation in MC3T3-E1 cells. Upon selenium tr...
Source: Genetics and Molecular Biology - June 8, 2020 Category: Genetics & Stem Cells Source Type: research

Overexpression of AtNCED3 gene improved drought tolerance in soybean in greenhouse and field conditions
Abstract Water deficit is an important climatic problem that can impair agriculture yield and economy. Genetically modified soybean plants containing the AtNCED3 gene were obtained aiming drought-tolerance improvement. The NCED3 gene encodes a 9-cis-epoxycarotenoid dioxygenase (NCED, EC 1.13.11.51), an important enzyme in abscisic acid biosynthesis. ABA activates the expression of drought-responsive genes, in water-deficit conditions, targeting defense mechanisms and enabling plants to survive under low water availability. Results from greenhouse experiments showed that the transgene AtNCED3 and the endogenous genes GmAREB...
Source: Genetics and Molecular Biology - June 8, 2020 Category: Genetics & Stem Cells Source Type: research

Comprehensive analysis of gene expression and DNA methylation data identifies potential biomarkers and functional epigenetic modules for lung adenocarcinoma
This study is aimed to screen potential DNA methylation signatures to facilitate the diagnosis and prognosis of LUAD and integrate gene expression and DNA methylation data of LUAD to identify functional epigenetic modules. We systematically integrated gene expression and DNA methylation data from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO), bioinformatic models and algorithms were implemented to identify signatures and functional modules for LUAD. Three promising diagnostic and five potential prognostic signatures for LUAD were screened by rigorous filtration, and our tumor-normal classifier and progno...
Source: Genetics and Molecular Biology - June 1, 2020 Category: Genetics & Stem Cells Source Type: research

New karyotype records for the genus Proechimys (Rodentia: Echimyidae) from Brazilian Amazonia
We present new karyotype records for six Proechimys species from the Brazilian Amazon. P. echinothrix from the region of Purus River had 2n = 32 chromosomes and a FN = 58, while P. cuvieri from the region of the Japur á River presented 2n = 28 and FN = 46. All individuals presented hybridization with an 18S rDNA probe in a single chromosome pair, with the exception of P. cuvieri from the Japurá region, which presented a third signal in one of the homologs of pair 1. No ITS were found in any of the individuals. Our data supports the hypothesis that the P. cuvieri population from the Japurá Basin and P. ...
Source: Genetics and Molecular Biology - June 1, 2020 Category: Genetics & Stem Cells Source Type: research

Association of polymorphisms of PTEN, AKT1, PI3K, AR, and AMACR genes in patients with prostate cancer
Abstract Polymorphic variants in the PTEN (rs2735343), PI3K (rs2699887), AKT1 (rs2494750), AR (rs17302090), and AMACR (rs3195676) genes were evaluated as possible molecular markers of susceptibility, prognosis, and progression of prostate cancer (PCa), in a case-control study. Samples consisted of 277 patients with PCa and 277 controls from Londrina, PR, Brazil. SNPs were analyzed by real-time PCR. A family history of cancer, including PCa, as well as level of schooling were risk factors for PCa. The data were obtained via logistic regression, using odds ratios with a CI 95%. The genotypes of AKT1 and AKT1+AR demonstrated ...
Source: Genetics and Molecular Biology - June 1, 2020 Category: Genetics & Stem Cells Source Type: research

Complete chloroplast genome sequence of Caryocar brasiliense Camb. (Caryocaraceae) and comparative analysis brings new insights into the plastome evolution of Malpighiales
This study synthetizes valuable information for further studies allowing a better understanding of evolutionary patterns in the group and providing resources for future breeding programs. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Characterization of a Paracoccidioides spp. strain from southeastern Brazil genotyped as Paracoccidioides restrepiensis (PS3) and review of this phylogenetic species
This study aimed to define the phylogenetic species of BAT isolate by using additional genotyping methods, as well as reviewing the epidemiological and clinical studies related to P. restrepiensis isolates. Genomic DNA of BAT isolate and reference strains of P. brasiliensis sensu stricto (S1b), P. americana (PS2), P. restrepiensis (PS3), and P. lutzii were analyzed by conventional polymerase chain reaction (PCR) of partial gp43 exon 2 loci, by PCR-RFLP technique of tub1 gene, and by sequencing of the whole gp43 exon 2 loci. Here, we show that BAT isolate belongs to P. restrepiensis species, which is an unusual identificati...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Overexpression of klotho suppresses growth and pulmonary metastasis of osteosarcoma in vivo
Abstract Klotho is originally discovered as an anti-aging gene and knock-out of klotho accelerates aging in mice. Subsequent studies support the anti-carcinogenesis role of klotho in a variety of human malignancies. The present study investigated the role of klotho on growth and metastasis of osteosarcoma cells. The osteosarcoma cells were transduced with lentivirus particles encoding klotho or scramble control. The reconstructed osteosarcoma cells were injected into the femoral medullary cavity of nude mice to establish a xenograft animal model. The anti-tumor properties of klotho were evaluated in terms of tumor growth, ...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Tools for Evolutionary and Genetic Analysis (TEGA): A new platform for the management of molecular and environmental data
Abstract Population genetics studies the distributions and changes in population allele frequencies in response to processes, such as mutation, natural selection, gene flow, and genetic drift. Researchers daily manage genetic, biological, and environmental data of the samples, storing them in text files or spreadsheets, which makes it difficult to maintain consistency and traceability. Here we present TEGA, a WEB-based stand-alone software developed for the easy analysis and management of population genetics data. It was designed to: 1) facilitate data management, 2) provide a way to execute the analysis procedures, and 3)...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Cytotoxic and genotoxic evaluation of cotinine using human neuroblastoma cells (SH-SY5Y)
Abstract Cotinine is the main metabolite of nicotine, which is metabolized in the liver through a cytochrome P450 enzyme. Different studies point to genetic instability caused by nicotine, such as single and double DNA strand breaks and micronuclei formation, but little is known about the effect of cotinine. Therefore, the present in vitro study assessed the effects of cotinine on cell viability and DNA damage in SH-SY5Y neuroblastoma cells, as well as genotoxicity related to oxidative stress mechanisms. Comparisons with nicotine were also performed. An alkaline comet assay modified by repair endonucleases (FPG, OGG1, and ...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic differences among Moraxella bovis and Moraxella bovoculi isolates from infectious bovine keratoconjunctivitis (IBK) outbreaks in southern Brazil
The objective of this study was to evaluate the genetic diversity of Moraxella bovis and Moraxella bovoculi bacteria isolated from infectious bovine keratoconjunctivitis (IBK) outbreaks in the state of Rio Grande do Sul, Brazil. The genetic diversity among Moraxella spp. was evaluated by RAPD-PCR, JWP1-JWOPA07-PCR, ERIC-PCR and by sequencing the 16S-23S intergenic regions. Based on the dendrogram, two genetically differentiated clades were observed; 14 isolates were classified as M. bovis and 17 as M. bovoculi. Genetic distances between the M. bovis samples ranged from 0.0379 to 0.4285, while for M. bovoculi the dissimilar...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Fusarium oxysporum f. sp. phaseoli genetic variability assessed by new developed microsatellites
The objective of this study was to develop microsatellite markers (SSRs) to characterize the genetic diversity of Fop. Two libraries enriched with SSRs were developed and a total of 40 pairs of SSRs were characterized. Out of these, 15 SSRs were polymorphic for 42 Fop isolates. The number of alleles varied from two to ten, with an average of four alleles per locus and an average PIC (Polymorphic Information Content) of 0.38. The genetic diversity assessed by microsatellites for Fop was low, as expected for an asexual fungus, and not associated with geographic origin, but they were able to detect enough genetic variability ...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Differential gene expression in response to water deficit in leaf and root tissues of soybean genotypes with contrasting tolerance profiles
Abstract Water deficit is one of the major limitations to soybean production worldwide, yet the genetic basis of drought-responsive mechanisms in crops remains poorly understood. In order to study the gene expression patterns in leaves and roots of soybean, two contrasting genotypes, Embrapa 48 (drought-tolerant) and BR 16 (drought-sensitive), were evaluated under moderate and severe water deficit. Transcription factors from the AP2/EREBP and WRKY families were investigated. Embrapa 48 showed 770 more up-regulated genes than BR 16, in eight categories. In general, leaves presented more differentially expressed genes (DEGs)...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Flower transcriptome dynamics during nectary development in pepper (Capsicum annuum L.)
Abstract The measurement of gene expression can provide important information about gene function and the molecular basis for developmental processes. We analyzed the transcriptomes at three different developmental stages of pepper flower [sporogenous cell division, stage (B1); pollen mother cell meiosis, stage (B2); and open flower (B3)]. In the cDNA libraries for B1, B2, and B3: 82718, 77061, and 91491 unigenes were assembled, respectively. A total of 34,445 unigene sequences and 128 pathways were annotated by KEGG pathway analysis. Several genes associated with nectar biosynthesis and nectary development were identified...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Importance of naturalized breeds as a base for the formation of exotic sheep (Ovis aries) breeds in tropical altitude regions
This study aimed to analyze genes of mitochondrial DNA of the following sheep (Ovis aries) breeds: Pantaneira, Bergam ácia, Dorper, White Dorper, Ile de France and Hampshire Down, to obtain their population genetic parameters and investigate the origin of these sheep populations reared in the State of Mato Grosso do Sul. The analysis of mitochondrial DNA allowed to infer their phylogenetic relationships and reveal ed significant differences among them when compared with each other and with sequences obtained from GenBank. Through the formation of haplotypes, it was noted that the Pantaneira breed served as the mater...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Diagnostic value of miR-145 and its regulatory role in macrophage immune response in tuberculosis
This study sought to investigate the expression and diagnostic value of serum miR-145 in TB patients and explore the biological function of miR-145 using macrophages. Serum expression levels of miR-145 were estimated by quantitative real-time PCR. A receiver operating characteristic curve was plotted to evaluate the diagnostic accuracy of miR-145. This study further focused on the effects of miR-145 on cell viability and inflammation in macrophages upon Mtb infection, and explored the potential target gene of miR-145. Serum expression levels of miR-145 were decreased in TB patients, and the upregulated inflammatory cytokin...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic variability of blood groups in southern Brazil
Abstract We evaluated genetic variability among the blood groups Kell (c.578C> T and c.1790T> C), Kidd (c.838A> G), Duffy (c.125A> G, c.265C> T and c.1-67T> C), Diego (c.2561C> T), MNS (c.143T> C) and Rh (c.676G> C) in Rio Grande do Sul in southern Brazil. Genetic profiling from 382 volunteer blood donors was performed through allelic discrimination assays using a hydrolysis probe (TaqMan ®) with a real-time PCR system. The sample was divided into two groups: Euro-Brazilian and Afro-Brazilian. A comparison with studies from other regions of Brazil and the 1000 Genomes Database showed signific...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review
We describe a new case of Leigh syndrome caused by a novel pathogenic variant of the C12orf65 gene resulting in the lack of the Gly-Gly-Gln (GGQ) domain in the predicted protein, and review clinical and molecular data from previously reported patients. Our study supports that the phenotype caused by C12orf65 gene variants is heterogeneous and varies from spastic paraparesis to Leigh syndrome. Loss-of-function variants are more likely to cause the disease, and variants affecting the GGQ domain tend to be associated with more severe phenotypes, reinforcing a possible genotype-phenotype correlation. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
Abstract Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of manifestations, preventing patients to have the benefits of the early treatment. Newborn screening programs are being considered for LSDs to allow early diagnosis and treatment. The present study evaluated the feasibility of a customized screening approach based on modified fluorometric assays with reduced amounts of reagents, subs...
Source: Genetics and Molecular Biology - May 29, 2020 Category: Genetics & Stem Cells Source Type: research

USP7 deubiquitinates and stabilizes EZH2 in prostate cancer cells
In this study, we found that the enhancer of zeste homolog 2 (EZH2), which catalyzes the methylation at lysine 27 of histone H3, is a target of USP7 and is stabilized by USP7-mediated deubiquitination. In prostate cancer cells, the transcriptional repression function of EZH2 was inhibited by USP7-knockdown. Furthermore, ectopic introduction of EZH2 restored the cell migration, invasion, and sphere-forming potential of prostate cancer cells, which had been decreased by USP7-knockdown. Moreover, combined treatment with the USP7-specific inhibitor P5091 and EZH2 inhibitors, such as GSK126, EPZ6438, and DZNep, induced synergis...
Source: Genetics and Molecular Biology - May 23, 2020 Category: Genetics & Stem Cells Source Type: research

Integrated analysis of lncRNA-associated ceRNA network identified potential regulatory interactions in osteosarcoma
This study aimed to identify potential therapeutic targets in osteosarcoma (OS) through the network analysis of competing endogenous RNAs (ceRNAs). The differentially expressed miRNAs (DEMIs) and mRNAs (DEMs) were identified between OS cell lines and human mesenchymal stem cells (hMSCs) from the data deposited under GSE70415 using limma package. Functional analysis of DEMs was performed using DAVID and clusterProfiler to identify significantly enriched Gene Ontology biological processes and KEGG pathways, respectively. The DEMI-DEM interaction network was constructed using Cytoscape. LncRNA – miRNA interactions were ...
Source: Genetics and Molecular Biology - May 23, 2020 Category: Genetics & Stem Cells Source Type: research

Functional analysis of 4-coumarate: CoA ligase from Dryopteris fragrans in transgenic tobacco enhances lignin and flavonoids
This study investigated the role that the 4CL2 gene from Dryopteris fragrans (Df4CL2) plays in the metabolite synthesis. Changes in gene expression, enzyme activity, and the content of lignin and flavonoids were measured in different tissues of tobacco as model plant that was successfully transferred with Df4CL2. Tobacco plants with Df4CL2 (transgenic tobacco, TT) were successfully obtained via the Agrobacterium-transformation method. This TT tended to be thicker and had an earlier flowering period than wild type tobacco (WT). The expression levels of Df4CL2 were higher in the stem, leaf, and root in TT compared to WT. In ...
Source: Genetics and Molecular Biology - May 21, 2020 Category: Genetics & Stem Cells Source Type: research

Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer
Abstract Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in other populations. In Brazil, this mutation corresponds to 20% of pathogenic BRCA1 variants reported. Our objective was to investigate the haplotype component of a group of Brazilian families who inherited c.5266dupC in the BRCA1 gene and to verify the ancestry contribution from European, African, and Amerindian origins. Fourteen probands carrying c.5266dupC and 16 rela...
Source: Genetics and Molecular Biology - May 21, 2020 Category: Genetics & Stem Cells Source Type: research

Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India
Abstract The polymorphic variants of BRCA1, which lead to amino acid substitutions, have a known pathogenic role in breast cancer. The present study investigated in North Indian breast cancer patients the association of risk with four reported pathogenic variants of BRCA1: c.190T>C (p.Cys64Arg), 1307delT, g.5331G>A (p.G1738R) and c.2612C>T (p.Pro871Leu). Genotyping was done by PCR-RFLP method in 255 clinically confirmed breast cancer patients and 255 age and gender matched healthy individuals. For c.190T>C, 1307delT and g.5331G>A, all the patients and controls had the wild-type genotype indicating no associa...
Source: Genetics and Molecular Biology - May 21, 2020 Category: Genetics & Stem Cells Source Type: research

Tracking a recent horizontal transfer event: The P-element reaches Brazilian populations of Drosophila simulans
Abstract The “ cut-and-paste ” P-element present in some Diptera illustrates two important transposable elements abilities: to move within genomes and to be transmitted between non-mating species, a phenomenon known as horizontal transposon transfer (HTT). Recent studies reported a HTT of the P-element from Drosophila melanogaster to D. simulans. P-elements first appeared in D. simulans European samples collected in 2006 and spread across several populations from Europe, Africa, North America and Japan within seven years. Nevertheless, no P-element was found in South American populations of D. simulans collecte...
Source: Genetics and Molecular Biology - May 18, 2020 Category: Genetics & Stem Cells Source Type: research

Comparative analysis of codon usage patterns in Rift Valley fever virus
In this study, we analyzed genomic patterns according to the infection properties of RVFV. Among the four segments of RVFV, the nucleotide composition, overall GC content and the difference of GC composition in the third position of the codons (%GC3) between groups were the largest in the S (NP) segment, showing that more diverse codons were used than in other segments. Furthermore, the results of CAI analysis of the S (NP) segment showed that viruses isolated from regions where no previous infections had been reported had the highest values, indicating greater adaptability to human hosts compared with other viruses. This ...
Source: Genetics and Molecular Biology - May 11, 2020 Category: Genetics & Stem Cells Source Type: research

HW_TEST, a program for comprehensive HARDY-WEINBERG equilibrium testing
This article deals with a Windows ( © Microsoft Inc.) executable, user-friendly program that tests the hypothesis of Hardy-Weinberg (HW) proportions from autosomal multiallelic data using different methods that include parametric, nonparametric and exact bootstrap tests, the latter obtained through computer simulations. The program c an be obtained free of charge directly from the internet repository https://github.com/Lemes-RenanB/HardyWeinbergTesting. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - May 11, 2020 Category: Genetics & Stem Cells Source Type: research

Comparison of the heterochromatin and telomeric sequences distribuition in chromosomes of 11 species of Amazonian marsupials (Didelphimorphia; Didelphidae)
Abstract In recent decades the diploid numbers recorded in the New World marsupials have been widely discussed in the context of the processes of karyotype evolution in these mammals. While Interstitial Telomeric Sequences (ITS) have long been interpreted as remnants of chromosomal fusion, the biological role of these features, together with their intraspecific variation, has raised a number of questions. In the present study, we analyzed the karyotype of 11 species of Amazonian didelphids, comparing the distribution of the heterochromatin with that of the telomeric signals, and found that, in six species, the ITS coincide...
Source: Genetics and Molecular Biology - May 11, 2020 Category: Genetics & Stem Cells Source Type: research

BAP1 functions as a tumor promoter in prostate cancer cells through EMT regulation
Abstract BRCA1-associated protein 1 (BAP1) is a deubiquitinating enzyme that has long been considered to be a tumor suppressor in various tumors, including renal cell carcinoma, uveal melanoma, mesothelioma, and cutaneous melanoma. However, the involvement of BAP1 in the progression of prostate cancer has not been studied until recently. Herein, we investigated the tumor promoting function of BAP1 in the context of prostate cancer. Analysis of The Cancer Genome Atlas (TCGA) data set showed that prostate cancer patients express high levels of BAP1 mRNA. High BAP1 expression is inversely correlated with disease-free survival...
Source: Genetics and Molecular Biology - May 8, 2020 Category: Genetics & Stem Cells Source Type: research

Methodological differences can affect sequencing depth with a possible impact on the accuracy of genetic diagnosis
In this study, we aimed to analyze the pattern of sequencing depth in variants from whole-exome sequencing data in the 1000 Genomes project phase 3, focusing on the variants present in the ClinVar database that were predicted to affect protein-coding regions. We demonstrate that the distribution of the sequencing depth varies across different sequencing centers (pair-wise comparison, p
Source: Genetics and Molecular Biology - April 27, 2020 Category: Genetics & Stem Cells Source Type: research

Transcriptomics analysis of Psidium cattleyanum Sabine (Myrtaceae) unveil potential genes involved in fruit pigmentation
This study reveals stimulating data for the understanding of the pathways and mechanisms involved in the maturation and colouring of P. cattleyanum fruits and suggests that the ANS and UFGT genes are key factors involved in the synthase and pigmentation accumulation in red fruits. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - April 27, 2020 Category: Genetics & Stem Cells Source Type: research

A comparison between SOLiD 5500XLand Ion Torrent PGM-derived miRNA expression profiles in two breast cell lines
Abstract Next-generation sequencing (NGS) platforms allow the analysis of hundreds of millions of molecules in a single sequencing run, revolutionizing many research areas. NGS-based microRNA studies enable expression quantification in unprecedented scale without the limitations of closed-platforms. Yet, whereas a massive amount of data produced by these platforms is available, comparisons of quantification/discovery capabilities between platforms are still lacking. Here we compare two NGS-platforms: SOLiD and PGM, by evaluating their microRNA identification/quantification capabilities using two breast-derived cell-lines. ...
Source: Genetics and Molecular Biology - April 27, 2020 Category: Genetics & Stem Cells Source Type: research

Combined use of mitochondrial and nuclear genetic markers further reveal immature marine turtle hybrids along the South Western Atlantic
Abstract Marine turtle hybridization is usually sporadic and involves reports of only a few individuals; however, Brazilian populations have high hybridization rates. Here we investigated the presence of hybrids in morphologically identified immature hawksbills (Eretmochelys imbricata) along the South Western Atlantic (SWA). We sequenced one mitochondrial (D-Loop) and three nuclear DNA (RAG1, RAG2, and CMOS) markers to better understand the patterns and characteristics of hybrids. We identified 22 hybrids (n = 270), 11 of them at the extreme South of the SWA. Uruguay had the highest hybrid frequency in the SWA (~37.5%) fol...
Source: Genetics and Molecular Biology - April 27, 2020 Category: Genetics & Stem Cells Source Type: research

Phylogenetic niche conservatism and plant diversification in South American subtropical grasslands along multiple climatic dimensions
Abstract Phylogenetic niche conservatism can be investigated at multiple scales on an explicit geographical context. Haplotype-based comparative analyses of lineages occupying the same region, and thus subjected to similar environmental factors, allow decoupling shared evolutionary and ecological patterns, as well as multiple dimensions of adaptive diversification. Here we aimed to assess the role of environmental drivers on diversification of subtropical grassland, based on haplotypic diversity of two plant genera. We sampled two closely related and co-distributed grassland plant genera, Petunia and Calibrachoa, across th...
Source: Genetics and Molecular Biology - April 27, 2020 Category: Genetics & Stem Cells Source Type: research

Genetic diversity in populations of African mahogany (Khaya grandioliola C. DC.) introduced in Brazil
Abstract Given its high-valued wood, the African mahogany (Khaya grandifoliola) has been envisaged as a renewable source of tropical hardwoods in Brazil. However, there are concerns about the hypothesized low diversity among the few K. grandifoliola germplasm sources introduced in the country. Using eight microsatellite markers, we evaluated the genetic diversity and divergence among 53 superior trees selected from three provenances of K. grandifoliola located in the state of Para. These populations are among the oldest plantations (>15 years) in Brazil and, therefore, the country's main seed sources. The average number...
Source: Genetics and Molecular Biology - April 27, 2020 Category: Genetics & Stem Cells Source Type: research

Comparative analysis of the complete chloroplast genomes from six Neotropical species of Myrteae (Myrtaceae)
In this study, we report the sequencing and de novo assembly of the complete chloroplast (cp) genomes of six Myrteae species: Eugenia brasiliensis, E. pyriformis, E. nitida, Myrcianthes pungens, Plinia edulis and Psidium cattleianum. We characterized genome structure, gene content, and identified SSRs to detect variation within Neotropical Myrteae. The six newly sequenced plastomes exhibit a typical quadripartite structure, gene content and organization highly conserved among Myrtaceae species. Some differences in genome length, protein-coding genes and non-coding regions were found. Besides, IR boundaries present structur...
Source: Genetics and Molecular Biology - April 23, 2020 Category: Genetics & Stem Cells Source Type: research

Comparative transcriptome analysis of the hippocampus from sleep-deprived and Alzheimer’s disease mice
Abstract We did a comparative analysis of the gene expression profiles of the hippocampus from sleep deprivation and Alzheimer ’ s disease (AD) mice. Differentially expressed genes (DEGs) were identified by comparing the transcriptome profiles of the hippocampus of sleep deprivation or AD mouse models to matched controls. The common DEGs between sleep deprivation and AD were identified by the overlapping analysis, followed by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses. The results showed that a total of 16 common DEGs showed similar change patterns in both sleep deprivation mice an...
Source: Genetics and Molecular Biology - April 23, 2020 Category: Genetics & Stem Cells Source Type: research