Genotoxicity of titanium dioxide nanoparticles and triggering of defense mechanisms in Allium cepa
Abstract Titanium dioxide nanoparticles (TiO2NPs) are widely used and may impact the environment. Thus, this study used a high concentration of TiO2NP (1000 mg/L) to verify the defense mechanisms triggered by a plant system – an indicator of toxicity. Furthermore, this study aimed at completely characterizing TiO2NP suspensions to elucidate their toxic behavior. TiO2NPs were taken up by meristematic cells of Allium cepa, leading to slight inhibition of seed germination and root growth. However, severe cellular and DNA damages were observed in a concentration-dependent manner (10, 100, and 1000 mg/L). For this reason, we...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Ecophysiology, genotoxicity, histopathology, and gene responses of naphthalene injected Colossoma macropomum (Cuvier, 1818) exposed to hypoxia
Abstract The present study aimed to evaluate the biological responses of Colossoma macropomum to naphthalene injection and subsequent hypoxia exposure, emphasizing the expression of the tumor suppressor gene tp53. Tambaquis were intraperitoneally injected with naphthalene (50 mg/kg) and, after 96 hours, the fish were transferred to respirometry chambers and, submitted to progressive hypoxia for the determination of critical PO2. In a subsequent experiment, the fish received an intraperitoneal injection of naphthalene and were kept for 96 hours under normoxia. Successively, fish were challenged with acute hypoxia (PO2<PO...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Assessment of the toxicogenic effects and cell death potential of the ester (Z)-methyl 4-((1,5-dimethyl-3-oxo-2-phenyl-2,3-dihydro-1H-pyrazol-4-yl)amino)-4-oxobut-2-anoate in combination with cisplatin, cyclophosphamide and doxorubicin
Abstract Despite rapid advances in both the early detection and treatment of cancer, the mortality from this disease remains high, which justifies the development of new products that are more selective and effective and have fewer side effects. Accordingly, a novel ester was synthesized that contains two pharmacophores with important biological activities: (I) 4-aminoantipyrine, which has anti-inflammatory and antioxidant effects, and (II) the pharmacophore 1,4-dioxo-butenyl, which has cytotoxic activity. When administered alone, this compound is non-genotoxic, and it does not cause an increasing in splenic phagocytosis. ...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Synthetic and minimalist vectors for Agrobacterium tumefaciens-mediated transformation of fungi
We present a collection of minimalist binary vectors for transformation through ATMT applicable to several fungi species. pLUO plasmid binary vectors consist of a reporter module containing fluorescent proteins, mCherry or eGFP, flanked by a multiple cloning site and a transcription terminator site. They also present a synthetic gene allowing resistance to Hygromicin B flanked by alternate promoters, one for yeast and another for filamentous fungi. Left and right borders were added for Agrobacterium tumefaciens recognition, and a minimal broad-host range RK2 replication origin. Transformation was validated in the pathogeni...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Comparative genome analysis of the SPL gene family reveals novel evolutionary features in maize
In this study, we present a comparative analysis of SPLs in different species. The results showed that 84 SPLs of the four species can be divided into six groups according to phylogeny. We found that most of the SPL-containing regions in maize showed extensive conservation with duplicated regions of rice and sorghum. A gene duplication analysis in maize indicated that ZmSPLs showed a significant excess of segmental duplication. The Ka/Ks analysis indicated that 9 out of 18 duplicated pairs in maize experienced positive selection, while SPL gene pairs of rice and sorghum mainly evolved under purifying selection, suggesting ...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Analysis of tRNA halves (tsRNAs) in serum from cattle challenged with bovine viral diarrhea virus
The objective of this study was to identify tsRNAs in cattle that had been challenged with a non-cytopathic field strain of BVDV. Colostrum-deprived neonatal Holstein calves were either challenged with BVDV (n=5) or mock challenged (n=4). Sera was collected prior to challenge and days 4, 9, and 16 post challenge. RNA was extracted and read counts of small non-coding RNAs were assessed using next-generation sequencing. A total of 87,838,207 reads identified 41 different tsRNAs. Two 5 ’ tsRNAs, tsRNAProAGG and tsRNAValAAC, differed across time. Two 5 ’ tsRNAs, tsRNAGlyCCC and tsRNAGlyGCC, differed between treatment gro...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Cytogenetics and DNA barcode reveal an undescribed Apareiodon species (Characiformes: Parodontidae)
Abstract Parodontidae is a small group of fish and some species are particularly difficult to identify due to the lack of sufficiently consistent morphological traits. Cytogenetically, the species possess 2n = 54 chromosomes and are either sex-homomorphic or sex-heteromorphic (regarding its chromosomes). We evaluated data on color, tooth morphology, cytogenetics, and mitochondrial markers (COI) in Apareiodon specimens from the Aripuan ã River (Amazon basin) and the results were compared to other congeneric taxa. Morphological results show an overlap of body color and tooth morphology to other known Apareiodon. The cytogen...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Karyotype diversity between species of Crenicichla (Perciformes, Cichlidae) from different Brazilian hydrographic basins
Abstract Crenicichla is the largest genus in the Cichlidae family in South America. The genus includes 100 valid species that are popularly known in Brazil as jacund ás or joaninhas and are widely distributed in rivers east of the Andes. Cytogenetic analyses were carried out on seven species in this genus. All species showed a diploid number of 48 with interspecific differences in karyotype formulas and AgNORs located in interstitial position on the short arm o f the largest metacentric pair, except for the two populations from C. britskii. Population A showed terminal markings on the long arm of the fifth pair of the com...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

VDR polymorphisms influence immunological response in HIV-1+ individuals undergoing antiretroviral therapy
Abstract Vitamin D exerts an immuno-modulatory activity on several immune system cells through the vitamin D receptor (VDR). Herein, we verified that age and a therapeutic regimen containing protease inhibitors are associated with failures in antiretroviral therapies (ARVs). In addition, we assessed whether a VDR SNP (rs11568820: C allele and CC genotype) and GC (rs2228570-rs11568820) allelic combinations are associated with immunological failure (p< 0.05). Our findings suggest a possible role of VDR SNPs on immunological failure in HIV-1+ individuals undergoing regular ARVs. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Osteogenesis imperfecta in Brazilian patients
Abstract Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this disease. Studies that report the most frequently mutated genes in OI patients can help to improve molecular strategies for diagnosis of the disease. In order to characterize the mutation profile of OI in Brazilian patients, we analyzed 30 unrelated patients through SSCP screening, NGS gene panel, and/or Sanger sequencin...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Up-regulation of RIP1 and IPS-1 in chronic HBV infected patients
Abstract IPS-1 and RIP1 are the main downstream molecules of RIG1 and MDA5, as intracytoplasmic receptors, which are the main receptors involved in recognition of internal and external viral double-stranded RNA. In this project, mRNA levels of IPS-1 and RIP1 were investigated in the peripheral blood immune cells of chronic hepatitis B (CHB) patients. IPS-1 and RIP1 mRNA levels were measured in 60 CHB patients and 120 healthy subjects, using RT-qPCR technique. A significant increase in expression levels of IPS-1 and RIP1 was found in patients when compared to healthy individuals. There was no correlation between IPS-1 and R...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitan...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Association of S100B polymorphisms and serum S100B with risk of systemic lupus erythematous in a Chinese population
Abstract The aim of this study was to investigate whether the S100B polymorphisms are associated with systemic lupus erythematous (SLE) in a Chinese population. A total of 313 SLE patients and 396 control subjects were enrolled in the present study. The genotypes of three SNPs (rs9722, rs881827 and rs1051169) in S100B gene were detected by single base extension polymerase chain reaction (SBE-PCR). Serum S100B levels were determined by enzyme-linked immunosorbent assay (ELISA). Rs1051169 was associated with an increased risk of SLE (C vs. G: adjusted OR=1.46, 95% CI, 1.18-1.80, p=0.001; CC vs. GG: adjusted OR=1.99, 95% CI, ...
Source: Genetics and Molecular Biology - August 30, 2019 Category: Genetics & Stem Cells Source Type: research

Population medical genetics: translating science to the community
Abstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proportion of affected patients in a small geographic area. These favorable conditions lead to the creation of a new discipline, known as “ population medical genetics ” , which integrates medical genetics, population g...
Source: Genetics and Molecular Biology - July 16, 2019 Category: Genetics & Stem Cells Source Type: research

Clinical research challenges in rare genetic diseases in Brazil
This report describes the experience of a clinical research group working with rare diseases in a reference center for lysosomal diseases in Brazil (Medical Genetics Service, Hospital de Cl ínicas de Porto Alegre). The activities of this research group enabled its participation in several international multicenter clinical research protocols related to the natural history or therapy development for rare genetic diseases. This participation has allowed the development of personal skill s and institutional facilities for clinical research. The clinical research developed in our center has raised the quality of the medical a...
Source: Genetics and Molecular Biology - July 16, 2019 Category: Genetics & Stem Cells Source Type: research