Resumo em Inglês:

Gene amplification increases the number of genes in a genome and can give rise to karyotype abnormalities called double minutes (DM) and homogeneously staining regions (HSR), both of which have been widely observed in human tumors but are also known to play a major role during embryonic development due to the fact that they are responsible for the programmed increase of gene expression. The etiology of gene amplification during carcinogenesis is not yet completely understood but can be considered a result of genetic instability. Gene amplification leads to an increase in protein expression and provides a selective advantage during cell growth. Oncogenes such as CCND1, c-MET, c-MYC, ERBB2, EGFR and MDM2 are amplified in human tumors and can be associated with increased expression of their respective proteins or not. In general, gene amplification is associated with more aggressive tumors, metastases, resistance to chemotherapy and a decrease in the period during which the patient stays free of the disease. This review discusses the major role of gene amplification in the progression of carcinomas, formation of genetic markers and as possible therapeutic targets for the development of drugs for the treatment of some types of tumors.

Resumo em Inglês:

Human butyrylcholinesterase (BChE; EC 3.1.1.8) is a polymorphic enzyme coded by the BCHE gene (3q26.1-q26.2) while the CHE2 gene (2q33-q35) determines a still not characterized substance that forms a complex with BChE (C5), being the CHE2 C5+ and CHE2 C5- phenotypes detected in electrophoresis. The present study investigated BCHE and CHE2 variability and the BChE activity of Brazilian Guarani Amerindians from the Kaiowá and Ñandeva sub-groups living in several indigenous territories in the Brazilian state of Mato Grosso do Sul. The frequency of the BCHE exon 2 D70G (A) allele was 0.60% ± 0.35% while that of the BCHE exon 2 G390V (F-2) allele, never before screened in Amerindians, was 8.82% ± 1.35%. This is the first time that the BCHE gene exon 4 A539T (K) allele has been surveyed in Brazilian Amerindians where it was found at a frequency of 3.69% ± 0.85%, similar to that found in Chilean Mapuche Amerindians. The BCHE gene variability seen in this survey differs from that of non-isolated populations in respect to both A539T and G390V allele frequency. The CHE2 C5+ phenotype frequency was 14.40% ± 2.22% and falls within the range of that found for other Brazilian Amerindian samples.

Resumo em Inglês:

Kidney anion exchanger adaptor protein (Kanadaptin) is a protein which interacts with the cytoplasmic N-terminal domain of kidney anion exchanger 1 (kAE1) and was first detected in mice using the yeast two-hybrid system and was also found to co-localize with kAE1 in rabbit a-intercalated cells. Impaired trafficking of human kAE1 can result in the kidney disease-distal renal tubular acidosis (dRTA), and defective interaction between human kAE1 and kanadaptin may cause this trafficking impairment and be the basis for dRTA pathogenesis. However, it is unknown whether kAE1 can really interact with kanadaptin in humans. We have thus investigated the interaction between human kAE1 and human kanadaptin by using both Gal4 and LexA yeast two-hybrid systems. It was found that co-expression of Gal4DBD fused to the cytoplasmic N-terminal domain of kAE1 and Gal4AD fused to kanadaptin could not activate the transcription of the ADE2, HIS3 and lacZ reporters in the Gal4 system. A similar result was obtained for the interaction between B42AD fused to the cytoplasmic N-terminal domain of kAE1 and LexA fused to kanadaptin in activation of lacZ transcription in the LexA system. The absence of interaction between the fusion proteins in both yeast two-hybrid systems raises the possibility that kAE1 may not interact with kanadaptin in human cells. Considerably different structures of both kAE1 and kanadaptin in mice and humans may lead to different binding properties of the proteins in these two species.

Resumo em Inglês:

The African descent population of the Bananal community in the Brazilian state of Bahia (BA) was characterized as a genetic isolate and analyzed for some short tandem repeat (STR) microsatellite autosomic polymorphic loci (CSF1PO, TH01, TPOX, F13A1, FESFPS and vWA). These genetic variants were further compared to data obtained from an urban sample from the town of Jequié (BA) regarding demographic and anthropogenetic aspects. The Bananal sample comprised 32 unrelated individuals whereas Jequié was represented by 76 individuals. The Bananal Negroid Phenotypic Index (NPI) was 0.98 and the Negroid Cultural Index (NCI) 0.24. Consanguineous marriages occurred at a frequency of 34.61% and the F value was 0.0126. All six loci studied were in Hardy-Weinberg Equilibrium (p > 0.05). The genotypic and allele frequencies of the CSF1PO and vWA loci were similar. In the Bananal population the genic diversity of the THO1 locus was 66.8% and that of the F13A1 locus was 83.7%. The estimated ethnic racial admixture was 81% African and 19% Amerindian. The multiple correlation coefficient (R²) indicated adequate adaptation (99%). Total genetic variation for the six loci was 82.9% with an index of 6.7% for population subdivision (G ST' = 0.067). Anthropologic data and results obtained from the allele frequencies of the loci studied are indicative of a genetic isolate in Bananal, reminiscent of the a 'quilombo community' (i.e. one founded by run away slaves).

Resumo em Inglês:

Results of a corroborative DNA sequencing analysis for five glucose-6-phosphate dehydrogenase (G6PD) mutations previously defined by PCR-restriction enzyme analysis are presented. The suitability for performing DNA sequencing analysis is discussed along with the importance of selecting the proper PCR-REA strategy in order to define the presence of a specific mutation .

Resumo em Inglês:

Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.

Resumo em Inglês:

Different risk factors for venous thromboembolism (VTE) have been identified, including hereditary abnormalities in the mechanisms of coagulation and fibrinolysis. We investigated five genetic polymorphisms (FVL G1691A, FII G20210A, MTHFR C677T, TAFI A152G and TAFI T1053C) associated with VTE in individuals from the city of Belém in the Brazilian Amazon who had no history of VTE. No significant difference was found between the observed and expected genotype frequencies for the loci analyzed. We found high frequencies of MTHFR C677T (33.9%) and TAFI T1053C (74%) and low frequencies of FVL (1.6%), FII G20210A (0.8%) and TAFI A152G (0.8%). The FVL G1691A, FII G20210A and MTHFR C677T frequencies were similar to those for European populations and populations of European descent living in the city of Ribeirão Preto in the Brazilian state of São Paulo. The frequency of the two TAFI mutations in the Belém individuals was not significantly different from that described for individuals from Ribeirão Preto. We suggest that the risks for VTE in the population of Belém are of the same magnitude as that observed in European populations and in populations with an expressive European contribution.

Resumo em Inglês:

Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this syndrome. We determined the frequencies of MTHFR 677C -> T and 1298A -> C polymorphic mutations in 49 patients with TS and 200 control individuals. The frequency of the 677C -> T allele was 0.39 for patients and 0.29 for controls while that of the 1298A -> C allele was 0.28 for patients and 0.25 for controls. Genotype frequencies were shown to be different in patients and controls (chi2 = 12.143; p = 0.033), and this was attributable to the higher frequency of the C677C -> T /677C -> T genotype among TS patients. In homozygotes, this mutation might have an effect on somatic chromosome disjunction by decreasing MTHFR activity.

Resumo em Inglês:

Groin hernias emerge at the myopectineal orifice of Fruchaud which is closed off by the fascia transversalis. Our previous studies showed structural and quantitative changes of the fascia transversalis elastic fibers of inguinal hernia patients and elderly people. The present study used single-strand conformation polymorphism (SSCP) elastin (analysis to investigate the 34 exons of the ELN gene of 49 inguinal hernia patients (7 females, 42 males aged 58.7 ± 19.82 years) and 75 non-herniated controls (35 females, 40 males aged 46.2 ± 14.32 years). We found that 47 patients and 24 controls had an abnormal exon 20 pattern caused by a g28197A > G missense mutation leading to an S422G amino acid substitution in the elastin hydrophobic domain. The g28197A > G allele frequency was 0.71 ± 0.045 in hernia patients and 0.21 ± 0.030 in controls and 23 patients and 7 controls were g28197A > G homozygous and 24 patients and 17 controls were heterozygous. This point-mutation showed a statistically significant association with inguinal hernia, chi-squared being 46.89 (p < 0.001) and the odds ratio 49.93 (95% confidence interval of <FONT FACE=Symbol>@</FONT>11 to 223). These results indicate that the g28197A > G mutation is involved in the genesis of inguinal hernia (possibly due to abnormal elastic fiber production) and explains impaired fascia transversalis function.

Resumo em Inglês:

We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.

Resumo em Inglês:

Orcein staining of spermatocytes was used to study the meiotic behavior of holocentric chromosomes in three member of the genus Antiteuchus (commonly known as stink bugs). We describe and illustrate the karyotype of Antiteuchus mixtus, A. sepulcralis and A. macraspis which were cytogenetically characterized as having a diploid number of 2n = 14 and an XY sex chromosome system showing pre-reductional meiosis for autosomes and post-reductional meiosis for sex chromosomes. These species were also shown to have a long diffuse stage during meiotic prophase I and aberrant harlequin-type meiocytes. The chiasma frequency was also analyzed for two of the three species studied.

Resumo em Inglês:

The objectives of the present study were to estimate the allele and genotype frequencies of the GH1/Alu I and POU1F1/Hinf I polymorphisms in beef cattle belonging to different genetic groups and to determine the effects of these polymorphisms on growth and carcass traits in cattle submitted to feedlot management, an intensive production model. Genotyping was performed on 384 animals, including 79 Nellore, 30 Canchim (5/8 Charolais + 3/8 Zebu), 30 Simmental x Nellore crossbred and 245 Angus x Nellore crossbred cattle. Body weight, weight gain, dressing percentage, Longissimus dorsi area and backfat thickness were fitted using the General Linear Model (GLM) procedure of the SAS program and the least square means of the genotypes were compared using the F test. The results showed significant associations between the LL genotype of the GH1/Alu I polymorphism and higher weight gain and body weight at slaughter (p < 0.05). The POU1F1/Hinf I polymorphism did not have any effect on the growth and carcass traits analyzed.

Resumo em Inglês:

The karyotypes of four Hisonotus species (two provisionally-named species A and D, H. nigricauda, and H. leucofrenatus) were found to have the same diploid number of 2n = 54 and interstitial silver-staining nucleolus organizer regions (Ag-NORs) located on the long arm of the largest metacentric pair. The C-banding pattern appeared to be species-specific, with one group (H. nigricauda and the unnamed species A and D) being characterized by small amounts of positive C-banded segments and containing a sub-group (species A and D) identified by a large positive C-banded segment on a small metacentric chromosome pair. The second group contained different samples of H. leucofrenatus, characterized by a larger amount of C-band positive segments spread over several chromosome arms. Heterochromatin appears to play an important evolutionary role in chromosome differentiation in Hisonotus species, especially in H. leucofrenatus. The geographic isolation of several H. leucofrenatus populations seems to have favored chromosome evolution of each sample analyzed.

Resumo em Inglês:

Brazilian naturalized goat breeds are adapted to the semiarid conditions prevalent in the Northeast region of the country (which has the largest Brazilian goat heard) and represent an as yet uninvestigated source of genetic diversity. Currently, imported goat breeds are crossed with Brazilian naturalized goat breeds, endangering the genetic potential of the naturalized breeds. We used 11 microsatellite markers to determine the genetic diversity among imported (non-naturalized) dairy Alpine and Saanen goats and naturalized Brazilian Moxotó goats. We genotyped 292 goats from three herds (one private, one from the University of Minas Gerais and the Moxotó conservation herd from Embrapa Caprinos) and found that the general heterozygosity was 0.6952 for Alpine, 0.7043 for Saanen and 0.4984 for Moxotó goats. The number of alleles ranged from 5 (INRA005) to 11 (BM3205), with an average of 7 alleles per locus in the imported breeds and 3.5 alleles per locus in the Moxotó breed. Mean differentiation between populations was higher for herds (F ST S = 0.0768) than for breeds (F ST P = 0.0263), indicating similarity between the imported breeds and the existence of crosses between them. Nei's genetic distance was highest between the Moxotó breed and the imported breeds. These indicate that further studies using these molecular markers would be fruitful.

Resumo em Inglês:

Microsatellite DNA markers have been used to assess genetic diversity and to study ecological behavioral characteristics in animals. Although these markers are powerful tools, their development is labor intensive and costly. Thus, before new markers are developed it is important to prospect the use of markers from related species. In the present study we investigated the possibility of using microsatellite markers developed for Alligator mississipiensis and Caiman latirostris in South American crocodilians. Our results demonstrate the use of microsatellite markers for Paleosuchus palpebrosus, Caiman crocodilus and Caiman yacare.

Resumo em Inglês:

Within about 30 years the Brazilian buffalo (Bubalus bubalis) herd will reach approximately 50 million head as a result of the great adaptive capacity of these animals to tropical climates, together with the good productive and reproductive potential which make these animals an important animal protein source for poor and developing countries. The myostatin gene (GDF8) is important in the physiology of stock animals because its product produces a direct effect on muscle development and consequently also on meat production. The myostatin sequence is known in several mammalian species and shows a high degree of amino acid sequence conservation, although the presence of non-silent and silent changes in the coding sequences and several alterations in the introns and untranslated regions have been identified. The objective of our work was to characterize the myostatin coding regions of B. bubalis (Murrah breed) and to compare them with the Bos taurus regions looking for variations in nucleotide and protein sequences. In this way, we were able to identify 12 variations at DNA level and five alterations on the presumed myostatin protein sequence as compared to non double-muscled bovine sequences.

Resumo em Inglês:

The potato (Solanum tuberosum L.) mitochondrial cox3/sdh4/pseudo-cox2 gene cluster has previously been identified by heterologous hybridization using a Marchantia polymorpha sdh4 probe. In our present study we used Southern blotting using sdh4 and cox2 probes to show that the sdh4 and cox2 genes are clustered in the mitochondria of potato, soybean and pea. Northern blotting revealed cotranscription of sdh4 and cox2 in potato but not in cauliflower, indicating that these genes are not clustered in cauliflower. A putative recombination point was detected downstream of the cox2 pseudogene (pseudo-cox2) in potato mitochondrial DNA (mtDNA). This sequence corresponds to a 32 bp sequence which appears to be well-conserved and is adjacent to the terminals of some mitochondrial genes in Citrullus lanatus, Beta vulgaris and Arabidopsis thaliana and is probably involved in the genic rearrangements. It is possible the potato mtDNA pseudo-cox2 gene was generated by recombination during evolution in the same way as that of several other mitochondrial genes and remains as an inactive partial copy of the functional cox2 which was also detected in potato mtDNA.

Resumo em Inglês:

The aims of this study were to develop simple sequence repeat markers (SSRs or microsatellite markers) in citrus and to evaluate the efficiency of these markers for characterization of sweet orange. We developed SSRs from a genomic library of 'Pêra IAC' sweet orange enriched for AG/TC, GT/CA, TCA/AGT and AAC/TTG sequence repeats. We selected 279 sequences from which 171 primer pairs were designed of which 113 with the best banding patterns were selected. Characterization of sweet orange microsatellite loci revealed that AG/TC was the most abundant (69%) microsatellite class isolated, followed by GT/CA (15.9%), TCA/AGT (8%) and AAC/TTG (6.2%). The number of alleles ranged from 1 to 4, with a mean of 2 alleles per locus. Four microsatellite loci developed in this study were found to be useful for sweet orange DNA typing. The data obtained from microsatellites loci considered polymorphic will be useful as tools in the selection of zygotic and nucellar plants, identification of seedlings etc. for the cultivars Pêra IAC, Lanceta, Pêra GS 2000, Lamb Summer, Lima, Lima Tardia, Lima Verde, Mimo do Céu, Valência Folha Murcha, Valência Folha Concha, Natal Murcha, Sangüínea and Baía Gigante.

Resumo em Inglês:

We studied the karyotypes of four Brazilian Cestrum species (C. amictum, C. intermedium, C. sendtnerianum and C. strigilatum) using conventional Feulgen staining, C-Giemsa and C-CMA3/DAPI banding, induction of cold-sensitive regions (CSRs) and fluorescent in situ hybridization (FISH) with rDNA probes. We found that the karyotypes of all four species was 2n = 2x = 16, with, except for the eighth acrocentric pair, a predominance of meta- and submetacentric chromosomes and various heterochromatin classes. Heterochromatic types previously unreported in Cestrum as neutral C-CMA3(0)/DAPI0 bands, CMA3+ bands not associated with NORs, and C-Giemsa/CSR/DAPI- bands were found. The heterochromatic blocks varied in size, number, position and composition. The 45S rDNA probe preferentially located in the terminal and subterminal regions of some chromosomes, while 5S rDNA appeared close to the centromere of the long arm of pair 8. These results suggest that karyotype differentiation can occur mainly due to changes in repetitive DNA, with little modification in the general composition of the conventionally stained karyotype.

Resumo em Inglês:

We used agromorphological and random amplified polymorphic DNA (RAPD) molecular marker data to identify duplicate common bean (Phaseolus vulgaris L. Fabaceae) accessions in the Common Bean Germplasm Bank of the Agronomical Institute - IAC (Banco de Germoplasma de feijoeiro do Instituto Agronômico de Campinas (IAC), SP, Brazil). A total of 116 accessions with the same names and similar agromorphological traits was analyzed. The divergence between the accessions was initially evaluated by means of the agromorphological descriptors using single linkage clustering, from the Euclidean distance. Multivariate analysis identified four duplicate accessions (Carioca Lustroso, Bico de Ouro, Jamapa and Preto), with 17 other same-name accessions being suspected duplicates due to their low divergence levels. Accessions with low genetic distance values (indicating that they were duplicates) were further compared using RAPD markers which confirmed the results of the multivariate analyses in relation to the four duplicate accessions, although only two of the other 17 suspect accessions were confirmed to be duplicates, in this case of accessions IAPAR 57 and Sacavem. These results show that the combined use of agromorphological and molecular information allowed a better characterization of the acessions in the common bean Germplasm Bank.

Resumo em Inglês:

This study presents the minimum number and the best combination of tomato harvests needed to compare tomato accessions from germplasm banks. Number and weight of fruit in tomato plants are important as auxiliary traits in the evaluation of germplasm banks and should be studied simultaneously with other desirable characteristics such as pest and disease resistance, improved flavor and early production. Brazilian tomato breeding programs should consider not only the number of fruit but also fruit size because Brazilian consumers value fruit that are homogeneous, large and heavy. Our experiment was a randomized block design with three replicates of 32 tomato accessions from the Vegetable Germplasm Bank (Banco de Germoplasma de Hortaliças) at the Federal University of Viçosa, Minas Gerais, Brazil plus two control cultivars (Debora Plus and Santa Clara). Nine harvests were evaluated for four production-related traits. The results indicate that six successive harvests are sufficient to compare tomato genotypes and germplasm bank accessions. Evaluation of genotypes according to the number of fruit requires analysis from the second to the seventh harvest. Evaluation of fruit weight by genotype requires analysis from the fourth to the ninth harvest. Evaluation of both number and weight of fruit require analysis from the second to the ninth harvest.

Resumo em Inglês:

Meiotic studies of ploidy level, chromosome paring and chiasma frequency were performed on 11 Cousinia (Asteraceae) species of the section Serratuloideae. The diploid number of the species studied was 2n = 2x = 24 and 26 so these species possess two different basic numbers (x = 12 or 13), a phenomenon common to other sections of the genus. The chromosome numbers of 9 species are reported here for the first time. When the 2n = 24 and 2n = 26 species were subjected to cluster analysis based on relative meiotic characters two different clusters were formed indicating their distinctness. Our data support the results obtained from morphometry, anatomy, pollen morphology and molecular studies of the genus Cousinia.

Resumo em Inglês:

This paper reports a case of abnormal spindle orientation during microsporogenesis in an interspecific hybrid of the tropical grass Brachiaria. In the affected plant, prophase I was normal. In metaphase I, bivalents were regularly co-oriented but distantly positioned and spread over the equatorial plate. In anaphase I, chromosomes failed to converge into focused poles due to parallel spindle fibers. As a consequence, in telophase I, an elongated nucleus or several micronuclei were observed in each pole. In the second division, the behavior was the same, leading to polyads with several micronuclei. A total of 40% of meiotic products were affected. The use of this hybrid in production systems needing good-quality seeds is discussed.

Resumo em Inglês:

The pigmentation (pgm) locus is a large unstable area of the Yersinia pestis chromosome composed of a segment of iron acquisition (HPI) linked to a pigmentation segment. In this work we examined the mobility of HPI and the pigmentation segment in three Y. pestis isolates using successive subcultures on Congo red agar (CRA) plates. Strain P. CE 882 was shown to be highly stable while strains P. Exu 340 and P. Peru 375 dissociated into several phenotypes, PCR analysis showing evidence of changes in the pgm locus of the derived cultures. Strains P. Exu 340 and P. Peru 375 produced previously unreported cultures positive for the pesticin/yersiniabactin outer membrane receptor (psn+) but negative for the iron-regulated protein (irp2-), suggesting the occurrence of rearrangements in this chromosomal region and either a sequential loss or the loss of separated segments. These results provide evidence that besides deletion en bloc, specific rearrangements are also involved in the deletion events for that locus.

Resumo em Inglês:

A phylogenetic analysis of the 5.8S rDNA and internal transcribed spacer (ITS1 and ITS2) sequences from some entomogenous Paecilomyces species supports the polyphyly of the genus and showed the existence of cryptic species. In the Eurotiales, anamorphs Paecilomyces variotii and Paecilomyces leycettanus were related to the teleomorphs Talaromyces and Thermoascus. In the Hypocreales, three major ITS subgroups were found, one of which included Paecilomyces viridis, Paecilomyces penicillatus, Paecilomyces carneus and isolates identified as Paecilomyces lilacinus and Paecilomyces marquandii. However, the majority of the P. lilacinus and P. marquandii isolates formed a distinct and distantly related subgroup, while the other major subgroup contained Paecilomyces farinosus, Paecilomyces amoeneroseus, Paecilomyces fumosoroseus and Paecilomyces tenuipes.

Resumo em Inglês:

Bacterial production of siderophores may involve specific genes related to nonribosomal peptide and polyketide biosynthesis, which have not been fully identified in the genome of Xylella fastidiosa strain 9a5c. However, a search for siderophore-related genes in strain 9a5c indicated five membrane receptors, including siderophore, ferrichrome-iron and hemin receptors. All these biomolecules are thought to be associated with iron transport and utilization. Eighty isolates obtained from citrus orchards containing trees that developed citrus variegated chlorosis (CVC) were screened for siderophore production. The results demonstrated that only 10 of the isolates did not produce siderophores. Additional strains obtained from coffee, almond, mulberry, elm, ragweed, periwinkle and grape also infected by X. fastidiosa were also shown by the chromeazurol bioassay to produce siderophores. In order to correlate siderophore production with the presence of siderophore-related genes, a polymerase chain reaction (PCR) was developed using specific primers for the catechol-type ferric enterobactin receptor (pfeA) and the hydroxamate-type ferrisiderophore receptor (fiuA) genes of strain 9a5c. The PCR results confirmed our hypothesis by demonstrating that amplification products were detected in all strains except for those isolates that did not produce siderophores.

Resumo em Inglês:

Sister chromatid exchange (SCE) and chromosome aberrations (CA) in peripheral lymphocytes has been widely used in assessing exposure to mutagens and carcinogens. One of the extensively studied genotoxins is benzo[alpha]pyrene (BaP). We studied the ability of BaP to induce SCE and CA in 16 glutathione S-transferase M1 (GSTM1)-positive and 15 GSTM1-null individuals by analyzing 72-h whole-blood lymphocyte cultures, either BaP-untreated (controls) or treated with 5 µM of BaP for 24 or 48 h. There was no differences in the level of BaP-induced chromosomal aberrations between GSTM1-positive or null individuals when the cells were BaP-exposed for 24 h (0.083 ± 0.059 vs. 0.090 ± 0.058) or 48 h (0.092 ± 0.057 vs. 0.096 ± 0.050. The frequency of SCE in controls was GSTM1-positive = 2.96 ± 0.35 and GSTM1-null = 3.23 ± 0.56 while that for BaP-treated lymphocytes was GSTM1-positive = 5.56 ± 0.83 and GSTM1-null = 6.09 ± 1.11 and were not statistically significant. The rates of BaP-induced in vitro chromatid and chromosome-type gaps and breaks were similar in all groups, although GSTM1-null genotype chromatid-type breaks were more frequent (0.064 ± 0.039 per metaphase) than chromosome-type breaks (0.032 ± 0.027 per metaphase) after 48 h treatment with BaP (p < 0.001). These findings suggest that BaP-induced in vitro SCE and CA are not influenced by the GSTM1 genotype.

Resumo em Inglês:

Cytotoxicity of metals is important because some metals are potential mutagens able to induce tumors in humans and experimental animals. Chromium can damage DNA in several ways, including DNA double strand breaks (DSBs) which generate chromosomal aberrations, micronucleus formation, sister chromatid exchange, formation of DNA adducts and alterations in DNA replication and transcription. In our study, water samples from three sites in the Córrego dos Bagres stream in the Franca municipality of the Brazilian state of São Paulo were subjected to the comet assay and micronucleus test using erythrocytes from the fish Oreochromis niloticus. Nuclear abnormalities of the erythrocytes included blebbed, notched and lobed nuclei, probably due to genotoxic chromium compounds. The greatest comet assay damage occurred with water from a chromium-containing tannery effluent discharge site, supporting the hypothesis that chromium residues can be genotoxic. The mutagenicity of the water samples was assessed using the onion root-tip cell assay, the most frequent chromosomal abnormalities observed being: c-metaphases, stick chromosome, chromosome breaks and losses, bridged anaphases, multipolar anaphases, and micronucleated and binucleated cells. Onion root-tip cell mutagenicity was highest for water samples containing the highest levels of chromium.

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The plant Croton cajucara Benth. (Euphorbiaceae) is a medicinal plant from the Brazilian Amazon where it is commonly known as sacaca. The principal compound isolated from C. cajucara stem-bark extracts is the clerodane-type diterpene trans-dehydrocrotonin (DCTN) which presents several biological activities, including antiulcerogenic, anti-inflammatory, hypoglycemic, antimutagenic and antitumoral activity. However, few studies have been carried out to evaluate the therapeutic potential of raw C. cajucara extracts. We studied mutagenicity and antimutagenicity effects of C. cajucara methanol extract using the micronucleus assay in bone marrow cells and the dominant lethal assay in mice submitted to subchronic treatments. The blood testosterone levels of the mice were also measured to assess the effects of the methanol extract on testes function. Statistical analysis of the data obtained in this study showed no statistically significant mutagenicity attributable to C. cajucara stem-bark extracts, nor did such extracts show antimutagenic activity at the concentrations assessed. The testosterone concentration was normal in all the mice studied.

Resumo em Inglês:

Population size and phenotypic measurement are two key factors determining the detection power of quantitative trait loci (QTL) mapping. We evaluated how these two controllable factors quantitatively affect the detection of QTL and their localization using a large F2 murine mapping population and found that three main points emerged from this study. One finding was that the sensitivity of QTL detection significantly decreased as the population size decreased. The decrease in the percentage logarithm of the odd score (LOD score, which is a statistical measure of the likelihood of two loci being lied near each other on a chromosome) can be estimated using the formula 1 - n/N, where n is the smaller and N the larger population size. This empirical formula has several practical implications in QTL mapping. We also found that a population size of 300 seems to be a threshold for the detection of QTL and their localization, which challenges the small population sizes commonly-used in published studies, in excess of 60% of which cite population sizes <300. In addition, it seems that the precision of phenotypic measurement has a limited capacity to affect detection power, which means that quantitative traits that cannot be measured precisely can also be used in QTL mapping for the detection of major QTL.

Resumo em Inglês:

Genetic differentiation in the Chilean blue mussel Mytilus chilensis (Hupé 1854) was investigated based on the variation in the allozyme frequencies of Pgm, Gpi, Icd, Me, Gsr, Lap and Pep in eight samples collected along 1800 km from Arauco (VIII Region) to Punta Arenas (XII Region). Despite the large geographic separations, values of Neis unbiased genetic distance, D (0.004-0.048) and standardised genetic variation among populations, Fst (0.011-0.055) were small. The levels of gene flow (Nm = 8) found in this study prevent the effect of differentiation among populations by genetic drift. This findings indicate that its long-lived planktotrophic larvae provides this species with considerable dispersal ability throughout its range which is favoured by the ocean currents along the chilean coast. In terms of management of the M. chilensis fishery, the results provide no evidence for discrete stocks, with the possible exception of the Punta Arenas population. Considering the intensive aquaculture activities with this species the present study provide preliminary data which can be used as a baseline for further characterization and /or monitoring these mussel populations.

Resumo em Inglês:

We describe an efficient in vitro assay to test growth hormone effects on mRNA levels and fatty acid synthase (FAS, EC. 2.3.1.85) activity. Swine adipose tissue explants were long-term cultured in medium containing growth hormone and FAS mRNA levels and enzyme activity were measured. We quantified FAS transcripts by competitive reverse transcriptase PCR (RT-PCR) using total RNA from cultured adipose tissue explants and RT-PCR standard-curves were constructed using a cloned 307 bp segment of native FAS cDNA and a shorter fragment from which a 64 bp (competitor, 243 bp) internal sequence had been deleted. A known amount of competitor was added to each PCR as an internal control and µ-actin transcripts were also measured to correct for differences in total RNA extraction and reverse transcription efficiency. In cultures with added growth hormone FAS mRNA levels decreased 70% (p < 0.01) and FAS enzyme activity decreased 22% (p < 0.05). These in vitro growth hormone effects were consistent with those observed in vivo, showing that in vitro adipose tissue culture combined with RT-PCR is a useful and accurate tool for studying growth hormone modulation of adipose tissue metabolism. This technique allowed the diagnosis of lower levels of FAS mRNA in the presence of growth hormone and these low levels were associated with decreased FAS activity in the adipose tissue explants.

Resumo em Inglês:

Based on simulation studies, it was shown that the type and size of experimental populations can exert an influence on the accuracy of genetic maps. A hypothetical genome map (one chromosome with nine equidistant molecular markers) was generated for the following population types: F2 with dominant and co-dominant markers, backcrossing, recombinant inbred lines (RIL) and double-haploid. The population sizes were 50, 100, 150, 200, 500 and 1000 individuals and 100 simulations were made for each population. The inaccuracies of the populations with the lowest number of individuals were shown by inversions in the order of the markers and the establishment of more than one linkage group in up to 38% of the simulations, depending on the population type. Stress and variance values of the distances between adjacent markers were significantly reduced with the increased size of the population. More accurate maps were obtained for the co-dominant F2 and RIL whereas the maps for the dominant F2 population were less accurate. The higher the number of individuals, the more precise was the map. In all populations, a total of 200 individuals were considered as being sufficient for the construction of reasonably accurate genetic maps. Although this paper deals with plant populations this approach is equally applicable to other organisms.