Does the expression of the ACVR2A gene affect the development of colorectal cancer?
This study assessed one of these elements, the ACVR2A gene. Qualitative and quantitative analyses of the ACVR2A gene in 84 patients with colorectal cancer was performed. There was no statistically significant association between ACVR2A gene expression and age, gender, histological type, grading of tumor, vascular invasion, and presence of lymphocytes in tumor tissue. No association was observed between the ACVR2A gene expression level and the presence of metastases in regional lymph nodes and distant metastases. In this study, larger tumors (T3 and T4) were characterized by higher ACVR2A expression compared to smaller tumo...
Source: Genetics and Molecular Biology - March 19, 2019 Category: Genetics & Stem Cells Source Type: research
Association of FOSL1 copy number alteration and triple negative breast tumors
Abstract Copy number alterations (CNAs) are a frequent feature in human breast cancer, and one of the hallmarks of genomic instability. The FOSL1, GSTP1 and CCND1 genes are located at 11q13, a cytoband commonly affected by CNA in breast cancer, with relevant function in progression and invasion. Our main goal was to analyze CNAs of these genes and determine their association with breast cancer subtypes. Seventy-three cases of invasive breast tumors [52 Luminal, 7 HER2+ and 14 triple negative (TNBC) subtypes] were analyzed by TaqMan assays. CNAs were observed for all genes, with gains more frequently observed. Gains of the ...
Source: Genetics and Molecular Biology - March 19, 2019 Category: Genetics & Stem Cells Source Type: research
Identification of novel mutations of Insulin Receptor Substrate 1 (IRS1) in tumor samples of non-small cell lung cancer (NSCLC): Implications for aberrant insulin signaling in development of cancer
Abstract Lung cancer is the leading cause of cancer-related death, and NSCLC constitutes nearly 85% – 90% of all cases. The IRS proteins function as adaptors and transmit signals from multiple receptors. Upon binding of insulin to the insulin receptor (IR), IRS1 is phosphorylated at several YXXM motifs creating docking sites for the binding of PI3Kp85, which activates AKT kinase. Therefore, we thought that gain of function mutantions of IRS1 could be related to development of lung cancer. In line with this, we wanted determine whether the IRS1 gene was mutated in the coding regions surrounding YXXM motifs. We sequenced t...
Source: Genetics and Molecular Biology - March 19, 2019 Category: Genetics & Stem Cells Source Type: research
Mannose-Binding Lectin 2 (MBL2) combined genotypes deficiency is associated with susceptibility for Oral Lichen Planus
In this study, the role of functional polymorphisms in the MBL2 gene, encoding for Mannose-Binding Protein C (MBP-C), a member of the innate immune response and an acute-phase protein able to activate the complement cascade, was investigated to assess a possible association with OLP susceptibility in Italian patients. Two variations at the promoter region (called H/L and X/Y) and three at the first exon (at codon 52, 54, and 57) of the MBL2 gene were analyzed in 69 OLP patients and 244 healthy controls from northeastern Italy. Considering the polymorphisms singularly, the MBL2 X allele and C/T genotype of the D allele (cor...
Source: Genetics and Molecular Biology - March 19, 2019 Category: Genetics & Stem Cells Source Type: research
Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II and VI
In conclusion, our study demonstrated that oxidative stress param eters were altered by Se supplementation in patients with MPS I, II and VI who were previously deficient in Se. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - March 19, 2019 Category: Genetics & Stem Cells Source Type: research
Wavelet-domain elastic net for clustering on genomes strains
Abstract We propose to evaluate genome similarity by combining discrete non-decimated wavelet transform (NDWT) and elastic net. The wavelets represent a signal with levels of detail, that is, hidden components are detected by means of the decomposition of this signal, where each level provides a different characteristic. The main feature of the elastic net is the grouping of correlated variables where the number of predictors is greater than the number of observations. The combination of these two methodologies applied in the clustering analysis of the Mycobacterium tuberculosis genome strains proved very effective, being ...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Phylogenomic and single nucleotide polymorphism analyses revealed the hybrid origin of Spondias bahiensis (family Anacardiaceae): de novo genome sequencing and comparative genomics
Abstract The genus Spondias (family Anacardiaceae) comprises 19 taxa, ten of which occur in Neotropical regions. Spondias bahiensis has been suggested to be a hybrid, although initial evidence does not support this hypothesis. The aim of this study was to test the hypothesis of the hybrid origin of S. bahiensis using high-throughput sequencing with single nucleotide polymorphism (SNP) analysis, characterization of intragenomic nuclear ribosomal DNA (nrDNA), and nuclear and chloroplast phylogenomic analyses. The SNP analysis revealed a high number of SNPs in the S. bahiensis genome, and with respect to nrDNA, S. bahiensis s...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Isolation and characterization of mesenchymal stem/stromal cells from Ctenomys minutus
This study represents the first report of isolation and characterization of cultures having characteristics of MSCs from Ctenomys minutus. The collection of biological information for biobanks represents an important contribution to the creation of strategies for prevention of loss of genetic diversity. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
The pequi pulp oil (Caryocar brasiliense Camb.) provides protection against aging-related anemia, inflammation and oxidative stress in Swiss mice, especially in females
Abstract Continued exposure to reactive oxygen species and inflammation are the rationale behind aging theories and associated diseases. Scientific evidence corroborates the ethnomedicinal use of the oil of pequi (Caryocar brasiliense Camb.), a typical Brazilian Cerrado fruit, against oxidative damage to biomolecules and inflammation. We aimed to investigate in vivo the antioxidant and anti-inflammatory effects of pequi oil on hemogram and DNA damage in healthy young adult and older middle-aged Swiss mice of both genders. Animals, aged 6-7 and 11-12 months, were orally treated for 15 days with pequi oil at 30 mg/day. Blood...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Molecular evolution and transcriptional profile of GH3 and GH20 β-N-acetylglucosaminidases in the entomopathogenic fungus Metarhizium anisopliae
Abstract Cell walls are involved in manifold aspects of fungi maintenance. For several fungi, chitin synthesis, degradation and recycling are essential processes required for cell wall biogenesis; notably, the activity of β -N-acetylglucosaminidases (NAGases) must be present for chitin utilization. For entomopathogenic fungi, such as Metarhizium anisopliae, chitin degradation is also used to breach the host cuticle during infection. In view of the putative role of NAGases as virulence factors, this study explored the transcriptional profile and evolution of putative GH20 NAGases (MaNAG1 and MaNAG2) and GH3 NAGases (MaNAG3...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Molecular characterization of Indian pathotypes of Puccinia striiformis f. sp. tritici and multigene phylogenetic analysis to establish inter- and intraspecific relationships
Abstract Stripe rust caused by Puccinia striiformis f. sp. tritici (Pst) is one of the most devastating diseases of wheat (Triticum spp.) worldwide. Indian isolates were characterised based on their phenotypic reaction on differential hosts carrying different Yr genes. Based on virulence/avirulence structure, isolates were characterised into ten different pathotypes viz. 70S0-2, 67S64, 70S4, 66S0, 70S64, 66S64-1, 38S102, 47S102, 46S119, and 78S84. These Indian pathotypes of P. striiformis f. sp. tritici and 38 pathotypes of other rust species (P. graminis tritici and P. triticina) were used in this study to analyze their m...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Genome-wide characterization of the NRAMP gene family in Phaseolus vulgaris provides insights into functional implications during common bean development
Abstract Transporter proteins play an essential role in the uptake, trafficking and storage of metals in plant tissues. The Natural Resistance-Associated Macrophage Protein (NRAMP) family plays an essential role in divalent metal transport. We conducted bioinformatics approaches to identify seven NRAMP genes in the Phaseolus vulgaris genome, investigated their phylogenetic relation, and performed transmembrane domain and gene/protein structure analyses. We found that the NRAMP gene family forms two distinct groups. One group included the PvNRAMP1, -6, and -7 genes that share a fragmented structure with a numerous exon/intr...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Cytogenetics of two hylid frogs from Brazilian Cerrado
Abstract Cytogenetic data can be useful for taxonomic and phylogenetic studies, as well as to provide information about chromosome evolution. Therefore, it may help design conservation priorities for some threatened species, such as anurans. Herein, we describe the karyotypes of Scinax constrictus and Ololygon centralis, native endemic species from the Brazilian Cerrado. Chromosome preparations for both species were stained with Giemsa for morphological analyses and then impregnated by the Ag-NOR method for localization of the nucleolar organizer region (NOR). Both species had 24 chromosomes, as confirmed by meiotic analys...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Comparative cytogenetics in three Melipona species (Hymenoptera: Apidae) with two divergent heterochromatic patterns
Abstract The genus Melipona is subdivided into four subgenera based on morphological characteristics, and two groups based on cytogenetic patterns. The cytogenetic information on this genus is still scarce, therefore, the goal of this study was to characterize Melipona paraensis, Melipona puncticollis, and Melipona seminigra pernigra using the following techniques: C-banding, DAPI/CMA3 fluorochromes, and FISH with an 18S rDNA probe. Melipona paraensis (2n=18) and M. seminigra pernigra (2n=22) were classified as high heterochromatin content species (Group II). Their euchromatin is restricted to the ends of the chromosomes a...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
Chromosomal polymorphism and comparative chromosome painting in the rufous-collared sparrow (Zonotrichia capensis)
Abstract Zonotrichia capensis is widely distributed in the Neotropics. Previous cytogenetic studies demonstrated the presence of polymorphisms in two chromosome pairs (ZCA2 and ZCA4). Here, we report results based on comparative chromosome painting, using probes derived from Gallus gallus and Leucopternis albicollis, focused on characterizing the chromosome organization of Z. capensis. Our results demonstrate the conservation of ancestral syntenies as observed previously in other species of passerine. Syntenies were rearranged by a series of inversions in the second chromosome as described in other Passeriformes, but in th...
Source: Genetics and Molecular Biology - December 20, 2018 Category: Genetics & Stem Cells Source Type: research
