Resumo em Inglês:

Four biallelic and six multiallelic Y-chromosome polymorphisms were investigated in 59 Gran Canarian, 60 North African Berber and 46 Spanish subjects. These new data were merged with equivalent literature information to obtain the parental Y-chrosomomal contribution in Gran Canarians, Colombians, and Venezuelans. The results were then compared, for Gran Canarians and Colombians, to those derived from autosomal and mtDNA. In both groups, the Spanish Y-chromosome contribution was much more marked than that estimated using mtDNA. This analysis showed a usual trend in the Spanish Colonial history, characterized by a demographic collapse of the aboriginal population, but with considerable introgression of genes through native women. In accordance to D. Ribeiro's typology for peoples subjected to Colonialism, the Y-chromosomes of these admixed populations are classified as transplanted, their mtDNA as witness, and their autosome sets as new.

Resumo em Inglês:

Point mutations at codon 12 of the HRAS (v-Ha-ras Harvey rat sarcoma viral oncogene homolog) oncogene are one of the best defined and widely studied molecular genetic events in transitional cell carcinoma (TCC) of the urinary bladder. The aim of this study was to use the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis of paraffin-embedded tissue-derived DNA to determine the frequency of the HRAS oncogene G ->T codon 12 mutation in TCC patients being treated at the University Urology Clinic in Skopje, Republic of Macedonia. DNA isolated from paraffin-embedded tissue (PET) surgically removed TCC specimens of 62 (81.58%) out of 76 patients were successfully amplified, the remaining 14 (18.42%) showing compromised DNA integrity. The codon 12 mutation of the HRAS oncogene was found in 24 (38.71%) out of 62 successfully tested TCC urinary bladder samples. No significant relationship between the mutation frequency and the histopathological grade of tumor differentiation was detected (chi² = 0.044; p = 0.978). The relatively high frequency of mutations found in our study was comparable with some of the previously reported data obtained by this and/or other PCR-based methods. This highly sensitive and specific PCR-RFLP analysis was demonstrated to be a suitable method for the detection of mutations at codon 12 of the HRAS oncogene in PET samples of urinary bladder TCC.

Resumo em Inglês:

Urokinase degrades basement proteins and is hypothesized to play a role in cancer progression. We investigated the hypothesis of C/T polymorphism in the 3'-untranslated region (3'-UTR) of the urokinase gene being associated with the development of bladder cancer. Such an association seems unlikely, since the genotype distributions in 114 bladder cancer patients did not differ from those of 105 controls.

Resumo em Inglês:

Differentially expressed clones from subtracted cDNA libraries of a pair of monozygotic twins discordant for schizophrenia have been reported in the literature. The clones were expressed in lymphocytes from the healthy twin, but not from the schizophrenic twin. In the current study, we assessed the expression of one of these clones, oksc12b, in 10 normal controls and in 10 patients who met DSM-IV criteria for schizophrenia and had never received neuroleptic medication. We hypothesized that this clone would be differentially expressed in normal controls and in the schizophrenic patients, and that its expression could be a peripheral marker of the disease. Lymphocytes were isolated and total RNA was purified, reverse-transcribed, and quantified by two PCR methods. In the first PCR assay, oksc12b expression was measured relative to beta-actin gene expression. The second PCR assay consisted of a competitive procedure using a heterologous DNA internal standard. Neither method confirmed any difference in oksc12b expression between schizophrenic patients and normal controls. Subtypes of schizophrenia or the general heterogeneity of this syndrome may explain the discrepancy found. It is also possible that the differentially expressed clones are present in discordant monozygotic twins, but not in other patients.

Resumo em Inglês:

A bovine 5,000 rad WG-RH panel was used to construct an RH map of bovine chromosome 5 (BTA5). Twenty-one microsatellites and thirteen genes were scored in the panel using PAGE and radioactive labeling. Marker retention ranged from 8.9%-25.8% and averaged 17.8%. Pairwise locus analysis placed all markers in a single syntenic group with a LOD support of 4.0. At a LOD support of 8.0, a centromeric group of 23 syntenic markers was formed. Telomeric groups of 11 and 9 markers were assembled with a LOD support of 6.0 and 8.0, respectively. All markers were ordered by maximum likelihood methods using the program RHMAP. Only 13 markers were ordered with a LOD support of at least 3.0, while 25 and 29 markers were ordered with a support of at least 2.0 and 1.0, respectively. Total length of the comprehensive RH map was 435.9 cR5,000, with an average marker separation of 12.8 cR5,000. The largest gaps in the map were 55.0 and 30.4 cR5,000 in length. The locus orders of markers common to both the RH map and the USDA-MARC linkage map were identical. The relationship between the RH and linkage maps was calculated to be 3.74 cR5,000/cM.

Resumo em Inglês:

Eukaryotic chromatin is organized as radial DNA loops with periodical attachments to an underlying nucleoskeleton known as nuclear matrix. This higher order chromatin organization is revealed upon high salt extraction of cells. To understand the sequential change in the functional organization of chromatin during spermatogenesis, we have analysed the higher order organization of chromatin in different testicular cell types and the epididymal sperm of laboratory mouse. The expansion and contraction of the nucleoid DNA following 2 M NaCl extraction was measured in a fluorescence microscope using ethidium bromide (2.5-200 mg/mL) as an intercalating dye to induce DNA positive supercoils. While the halo size varied among cell types (pachytene DNA most extended, round spermatid least), 5 mg/mL ethidium bromide (EtBr) removed maximum negative supercoils in all the cell types. At higher EtBr concentrations, maximum positive supercoiling occured in pachytene DNA loops. Consistent with this, the pachytene looped domains were maximally sensitive to DNase I, while the elongated spermatids and sperms were highly resistant. Our data suggest that pachytene DNA is in the most open chromatin conformation of all testicular cell types, while round spermatids show the most compact conformation in terms of EtBr intercalation.

Resumo em Inglês:

The hepatic expression and plasma concentrations of IGF-I were investigated in three broiler chicken strains selected for different growth rates (HP-Hubbard-Pettersen, a fast growing strain; NN-Naked-neck, a strain with an intermediate growth rate and a heterozygous genotype, and C-Caipira, a slow growing crossbred strain). The chickens were studied at 1, 21 and 42 days of age and had free access to food throughout the study. Hepatic IGF-I mRNA expression was assessed by dot blot analysis using a randomly labeled chicken IGF-I cDNA as the probe and plasma IGF-I concentrations were assayed by radioimmunoassay. The hepatic levels of IGF-I mRNA increased from 1 to 21 days of age in all strains, with NN chickens showing a higher (p < 0.05) IGF-I expression than the other strains. Plasma IGF-I concentrations increased (p < 0.05) with broiler chicken age, but there were no significant differences among the strains. These results indicate that despite differences in the growth rates among the strains, the changes in the expression of IGF-I mRNA in liver and in the plasma levels of IGF-I were independent of broiler chicken strain, but varied with chicken age.

Resumo em Inglês:

Trichomycteridae is a family of small catfish which are widely distributed throughout Southern Central America and South America. The present study showed that the cis-Andean species Trichomycterus florensis, Trichomycterus sp. aff. Trichomycterus itatiyae, Trichomycterus reinhardti, Trichomycterus davisi and Trichomycterus auroguttatus had 2n = 54 chromosomes (42 metacentric, 10 submetacentric and 2 subtelocentric), with T. reinhardti, T. auroguttatus and T. sp. aff. T. itatiyae exhibiting only one chromosome pair with silver-stained nucleolus organizer regions (NORs). The cytogenetic data suggest the existence of at least two groups of species in the cis-Andean representatives of the genus Trichomycterus. In the first group the first metacentric pair is considerably larger than the second metacentric pair and the NORs occur in the pericentromeric position of the short arm of a large submetacentric pair while in the second group the first and second metacentric pairs are about the same size and larger than the other metacentric pairs and the NORs are located in the pericentromeric position of the long arm of a large metacentric pair. The relative conservatism of the karyotype of the cis-Andean Trichomycterus species contrasts with the wide diversification observed in the trans-Andean species, reinforcing the hypothesis that the genus is not monophyletic.

Resumo em Inglês:

Cytogenetic analysis of a rainbow trout stock showed that the nucleolar organizing regions were located subterminally on the long arm of a submetacentric chromosome pair and occurred as a single chromosomal segment (phenotype N1) or as two chromosomal segments separated by a short euchromatic segment (phenotype N2). Cytogenetic analysis also showed that there were N1N1 and N1N2 individuals but no N2N2 individuals. Analysis of the different includedphenotypes incluted that the population was not in Hardy-Weinberg equilibrium (chi² = 19.333; p < 0.01), and that a higher frequency of individuals had the N1N2 phenotype. Experimental crosses involving four males (two N1N1 and two N1N2) and four females (one N1N1 and three N1N2) yielded eight broods. There were no significant differences between the expected and observed frequencies of offspring resulting from crosses involving N1N1 x N1N2 individuals. However, significant differences were seen in crosses involving N1N2 x N1N2 parents because of the a high incidence of N1N2 fishes and the absense of N2N2. The lack of N2N2 individuals in the parental sample and their absence among the offspring of the experimental crosses suggested that this genetic combination may be lethal in rainbow trout. The survival rates of embryonic "eyed egg" and fry stage individuals were not different, indicating that the possible lethal effect may occur during more advanced ontogenetic phases.

Resumo em Inglês:

The phylogenetic relationships of twelve species of Chauliognathus were investigated by studying the mitochondrial cytochrome oxidase I gene. A 678 bp fragment of the COI gene was sequenced to test the hypothesis that the Müllerian mimicry species of the "yellow-black" complex make up a monophyletic clade, separated from species with other colour patterns. The data set was analysed by neighbour-joining, maximum parsimony and maximum likelihood procedures. The results support a single origin of the yellow-black colour pattern during the evolution of the genus, with one main clade formed by Chauliognathus lineatus, C. tetrapunctatus, C. riograndensis, C. flavipes, C. octomaculatus, C. fallax, and another one formed by two species, C. expansus and C sp 1, plus an orange-black-coloured species. The nucleotide divergences found between C. sp 3 (black) and the other species studied fall within the level expected for species from different genera. The similarity of colour patterns of the yellow-black species has been considered an example of Müllerian mimicry by conservation of the ancestral state with some minor modifications.

Resumo em Inglês:

The most polymorphic chromosome for inversions in Drosophila mediopunctata is the chromosome II, where 17 inversions have been found, eight of which occurring in the distal region and nine in the proximal region. We present an analysis of the chromosome II inversion polymorphism with respect to seasonal, altitudinal and latitudinal variation. In D. mediopunctata from the Parque Nacional do Itatiaia (southeastern Brazil), the frequencies of three of the distal inversions (namely DA, DS, and DP) vary seasonally. These inversions also show altitudinal clines in their frequencies. This microgeographic pattern was not observed on a macrogeographic scale. D. mediopunctata from Porto Alegre are less polymorphic for inversions than other populations, the most remarkable reduction occurring in the proximal region of chromosome II. There is a considerable difference between D. mediopunctata from Campinas and specimens from Serra do Japi, which are separated by only 50 km. In contrast, D. mediopunctata from Serra do Japi are much more similar to specimens from the Parque Nacional do Itatiaia, which is 200 km far.

Resumo em Inglês:

We describe the transformation of white mutant Drosophila simulans with a piggyBac transposon vector and a green fluorescent marker (GFP) and show how to construct inexpensive micro-manipulation and epifluorescence equipment for use in transposon-mediated germ-line transformation. Although the number of G0 adult flies (16) obtained in relation to the number of injected eggs was very low (12.5%) it was comparable to the proportion described by other authors and can be considered as a good rate of transformation.

Resumo em Inglês:

The commonly known Pimenta longa is a commercially valuable natural resource found wild in Acre, Brazil. Specifically, three Piperaceae species with contested taxonomic status were studied, Piper hispidinervum, Piper aduncum, and Piper hispidum, to assesses the inter- and intra-specific genetic relationship of 49 Piper genotypes kept in the Pimenta longa germplasm collection at Embrapa Acre, using sixty six Random Amplified Polymorphic DNA (RAPD) markers. The DNA polymorphism level detected was high (96.97%), but the marker frequencies for each species showed polymorphism levels of 79.4% for Piper hispidinervum and 5.3% for P. aduncum. The genetic similarity clustering analysis resulted in three distinct groups corresponding to Piper hispidinervum, Piper aduncum, and Piper hispidum. Four and nine characteristic RAPD markers were identified for P. hispidinervum and P. aduncum, respectively, supporting the existence of two separate species. However, six genotypes collected in Tarauacá county formed a distinct subgroup within the P. hispidinervum group and may be considered as an ecotype of this species or an intermediate between the P. hispidinervum and P. aduncum groups. More extensive sampling of both P. hispidinervum and P. aduncum populations throughout the region are needed to further establish their relation and its implication for breeding efforts.

Resumo em Inglês:

The objective of this study was to evaluate whether different similarity coefficients used with dominant markers can influence the results of cluster analysis, using eighteen inbred lines of maize from two different populations, BR-105 and BR-106. These were analyzed by AFLP and RAPD markers and eight similarity coefficients were calculated: Jaccard, Sorensen-Dice, Anderberg, Ochiai, Simple-matching, Rogers and Tanimoto, Ochiai II and Russel and Rao. The similarity matrices obtained were compared by the Spearman correlation, cluster analysis with dendrograms (UPGMA, WPGMA, Single Linkage, Complete Linkage and Neighbour-Joining methods), the consensus fork index between all pairs of dendrograms, groups obtained through the Tocher optimization procedure and projection efficiency in a two-dimensional space. The results showed that for almost all methodologies and marker systems, the Jaccard, Sorensen-Dice, Anderberg and Ochiai coefficient showed close results, due to the fact that all of them exclude negative co-occurrences. Significant alterations in the results for the Simple Matching, Rogers and Tanimoto, and Ochiai II coefficients were not observed either, probably due to the fact that they all include negative co-occurrences. The Russel and Rao coefficient presented very different results from the others in almost all the cases studied and should not be used, because it excludes the negative co-occurrences in the numerator and includes them in the denominator of their expression. Due to the fact that the negative co-occurrences do not necessarily mean that the regions of the DNA are identical, the use of coefficients that do not include negative co-occurrences was suggested.

Resumo em Inglês:

The objective of this study was to estimate gene effects and genetic variability for some quantitative traits of two winter wheat crosses (Soissons/Zitarka and Soissons/Sana) by generation mean analysis. In most cases a digenic epistatic model was sufficient to explain variation in generation means. The additive-dominance model was adequate for plant height and grain weight per spike of the longest culm. In two cases (grain yield per plant and single grain weight) these models failed to explain variation in generation means, implying the presence of higher order interactions or interactions between linked loci. Dominance effects and additive x additive epistasis were more important than additive effects and other epistatic components. Only complementary type epistasis was observed. The estimated values of narrow-sense heritability (h²n) varied for plant height (54-81%), number of heads per plant (9-76%), number of grains per spike (11-99.8%), grain weight per spike (23-73%), grain yield per plant (21-78%) and single grain weight (49.7-72%). The adequacy of certain modes of inheritance as well as the importance and significance of gene effects and genetic components of variance for analyzed traits were dependent upon the particular crossing combination and experimental site.

Resumo em Inglês:

The electrophoretic karyotype of the dermatophyte Trichophyton rubrum was established using contour-clamped homogeneous electric field (CHEF) gel electrophoresis. Five chromosomal bands of approximately 3.0 to 5.8 megabase pairs (Mbp) each were observed and together indicated that 22.05 Mbp of the total genome are organized as chromosomal macromolecules. In addition to establishing the number and size of T. rubrum chromosomes, these results open perspectives for the construction of chromosome-specific libraries and for the physical mapping of genes of interest, thus permitting future gene linkage studies in this pathogen. A detailed understanding of the karyotype and genomic organization of T. rubrum should contribute to further genetic, taxonomic and epidemiological studies of this dermatophyte.

Resumo em Inglês:

Genotoxicity studies on toxic metals and their organic compounds are very important, especially so in the investigation of the effects of these compounds on the aquatic environments where they tend to accumulate. The use of endemic aquatic organisms as biological sentinels has proved useful to environmental monitoring. We assessed the mutagenic potential of tributyltin (TBT) and inorganic lead (PbII) using samples of the fish Hoplias malabaricus (commonly called traíra) using the comet assay and the piscine micronucleus and chromosome aberration tests. Eighteen H. malabaricus were acclimatized in three individual aquariums, each containing six fish, six fish being exposed to 0.3 mg/g of body weight (bw) of TBT, six to 21 mg/g bw of PbII and six being used as controls. Exposure to TBT and PbII was achieved by feeding the fish every five days with Astyanax (a small fish that is part of the normal diet of H. malabaricus) which had been injected with solutions of TBT, PbII or with water (the control group). After two months the H. malabaricus were sacrificed and their peripheral blood collected and subjected to the comet and micronucleus assays, the chromosome aberration assay being conducted using kidney-tissue. Although the comet assay showed now mutagenic effects at the lead concentrations used but encountered results with TBT, the micronucleus and chromosome aberrations assays both indicated that TBT and PbII are potentially mutagenic (p < 0.01), the micronucleus assay showing morphological alterations of the nucleus.

Resumo em Inglês:

The mushroom shiitake (Lentinula edodes (Berkeley) Pegler) is been widely consumed in many countries, including Brazil, because of its pleasant flavor and reports of its therapeutic properties, although there is little available information on the genotoxicity and/or antigenotoxicity of this mushroom. We used the Comet assay and HEp-2 cells to evaluate the in vitro genotoxic and antigenotoxic activity of aqueous extracts of shiitake prepared in three different concentrations (0.5, 1.0 and 1.5 mg/mL) and three different temperatures (4, 22 and 60 °C), using methyl methanesulfonate (MMS) as a positive control and untreated cells as a negative control. Two concentrations (1.0 and 1.5 mg/mL) of extract prepared at 4 °C and all of the concentrations prepared at 22 ± 2 and 60 °C showed moderate genotoxic activity. To test the protective effect of the three concentrations of the extracts against the genotoxicity induced by methyl methanesulfonate, three protocols were used: pre-treatment, simultaneous-treatment and post-treatment. Treatments were repeated for all combinations of preparation temperature and concentration. Two extracts (22 ± 2 °C 1.0 mg/mL (simultaneous-treatment) and 4 °C 0.5 mg/mL (post-treatment)) showed antigenotoxic activity.

Resumo em Inglês:

Hydroxyurea is commonly used in the treatment of myeloproliferative diseases and in patients with sickle cell disease (SCD). The use of this antineoplastic agent in patients with SCD is justified because of the drug's ability to increase fetal hemoglobin levels, thereby decreasing the severity of SCD. However, high doses or prolonged treatment with hydroxyurea can be cytotoxic or genotoxic for these patients, with an increased risk of developing acute leukemia. This danger can be avoided by monitoring the lymphocytes of patients treated with hydroxyurea. Cytogenetic tests are important endpoints for monitoring the physiological effects of physical and chemical agents, including drugs. In this work, we assessed the genotoxicity of hydroxyurea in short-term cultures of lymphocytes from SCD patients. Hydroxyurea was not cytotoxic or genotoxic at the concentrations tested in the G2 phase of the cell cycle. These results support the use of hydroxyurea in the treatment of SCD, although further work is necessary to understand the effects of this drug in vivo.

Resumo em Inglês:

The expression of AtchitIV gene was analysed in Arabidopsis plants submitted to abiotic stresses. Transcript accumulation was detected in leaves in response to UV light exposure, exogenous salicylic acid administration and wounding. Transgenic Arabidopsis plants carrying AtchitIV promoter::gus fusion also showed differential expression of the reporter gene in response to these treatments. The AtchitIV expression was also analysed during Arabidopsis embryo development. GUS assay demonstrated AtchitIV promoter activation in zygotic embryos from torpedo stage up to full maturation. Promoter deletion analysis indicated that all the 5' cis-acting elements responsible for the specific tissue expression are located in a region of 1083 bp, adjacent to the start of transcription. A negative regulatory region located between portions -1083 and -600 was also observed.

Resumo em Inglês:

Evolutionary Biology integrates several disciplines of Biology in a complex and interactive manner, where a deep understanding of the subject demands knowledge in diverse areas. Since this knowledge is often inaccessible to the majority of specialized professionals, including the teachers, we present some reflections in order to stimulate discussions aimed at the improvement of the conditions of education in this area. We examine the profile of evolutionary teaching in Brazil, based on questionnaires distributed to teachers in Secondary Education in the Federal District, on data provided by the "National Institute for Educational Studies and Research", and on information collected from teachers working in various regions of this country. Issues related to biological misconceptions, curriculum and didactic material are discussed, and some proposals are presented with the objective of aiding discussions aimed at the improvement of the teaching of evolutionary biology.