The clinical and molecular characterization of neurofibromatoses in different populations is very important to provide further insights into the pathogenesis of these diseases.
Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome that results from dominant loss-of-function mutations mainly in the NF1 gene. Large rearrangements are present in 5–10% of affected patients, generally encompass NF1 neighboring genes, and are correlated with a more severe NF1 phenotype. Evident genotype–phenotype correlations and the importance of the co-deleted genes are difficult to establish. In our study we employed an evolutionary approach to provide further insights into the understanding of the fundamental function of genes that are co-deleted in subjects with NF1 microdeletions. Our goal was to access the ortholog and paralog relationship of these genes in primates and verify if purifying or positive selection are acting on these genes. Fourteen genes were analyzed in twelve mammalian species. Of these, four and ten genes showed positive selection and purifying selection, respectively. The protein, RNF135, showed three sites under positive selection at the RING finger domain, which may have been selected to increase efficiency in ubiquitination routes in primates. The phylogenetic analysis suggests distinct evolutionary constraint between the analyzed genes. With these analyses, we hope to help clarify the correlation of the co-deletion of these genes and the more severe phenotype of NF1.
ResumoFusarium graminearum is a potential producer of several mycotoxins, as trichothecenes, causing economic and nutritional losses and risks to human and animal health. Researches about antagonistic potential microorganisms have increasead in order to control of fungal growth and mycotoxin synthesis. Bacillus strains isolated from aquatic environment of Brazilian Amazon basin have shown antifungal activity against filamentous fungi. There is no specific report on the impact of these isolates on growth of toxigenic F. graminearum. The aim of this work was to screen Bacillus strains isolated from aquatic environments of Brazilian Amazon region for their antifungal activity against mycelial growth of F. graminearum. Both Bacillus strains and F. graminearum were obtained from the collection center at Laboratory of Applied Biochemistry and Microbiology (ICTA/ UFRGS, Brazil). For antifungal activity, bacteria were cultured in tryptone soy broth (TSB) for 48 h at 37°C. Sterile molten potato dextrose agar (PDA) containing spore suspension was transferred to Petri dishes. After solidification, each isolate was inoculated on PDA plates. The inhibition zones were measured after 7 days of incubation at 25 °C. To evaluate the effect on radial growth, Bacillus strains inocula were added on PDA, and a spore suspension was placed in the centre of each plates and incubated at 25 °C for 10 days. The growing radius of the fungal colonies was measured 467
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