Chromosome sensitivity to bleomycin in G2 lymphocytes from Down syndrome patients

Several studies have demonstrated that lymphocytes from patients with Down syndrome (DS) exhibit an increased frequency of chromosome aberrations when they are exposed to ionizing radiation or to chemicals at the G0 or G1 phases of the cell cycle, but not at G2 when compared to normal subjects. To determine the susceptibility of DS lymphocytes at G2 phase, bleomycin, a radiomimetic agent, was used to induce DNA breaks in blood cultures from 24 Down syndrome patients. All the patients with DS showed free trisomy 21 (47,XX + 21 or 47,XY + 21). Individuals that showed an average number of chromatid breaks per cell higher than 0.8 were considered sensitive to the drug. No control child showed susceptibility to bleomycin, and among the 24 patients with DS, only one was sensitive to the drug. No significant difference was observed between the two groups, regarding chromatid break frequencies in treated G2 lymphocytes. The distribution of bleomycin-induced breaks in each group of chromosomes was similar for DS and controls. No significant difference was found in the response to bleomycin between male and female subjects. Probably, the main factor involved in chromosome sensitivity of lymphocytes from patients with DS is the phase of the cell cycle in which the cell is treated.

Human chromosome aberrations induced in vitro by Paracoccidioides brasiliensis glycoproteic component (GP 43)

The in vitro cytogenetic effects of the 43-kDa molecular mass exocellular glycoproteic component (GP 43) from Paracoccidioides brasiliensis were studied in cultures from human lymphocytes. The sample included 10 healthy, white, non-smoking, non-related males (mean age of 31.3 ± 8.2 years). Besides the control, three concentrations of GP 43 (0.125, 1.25 and 5 μg/ml) were used. In each group, around 1000 cells were examined in search of chromosome aberrations, and 30,000 metaphases were analysed for the determination of the Mitotic Index. The authors conclude that GP 43 most probably causes inhibition of the cell cycle and aneugenic and clastogenic effects.

Increased B chromosome frequency and absence of drive in the fish Prochilodus lineatus

The neotropical freshwater fish species Prochilodus lineatus (Pisces, Prochilodontidae) shows 2n = 54 chromosomes plus supernumerary microchromosomes ranging in number from zero to seven among different animals. The transmission rates of B chromosomes were studied by the analysis of the parental and F1 generations in 10 controlled crosses performed with specimens from a natural population. The mean transmission rate observed for B chromosomes (k(B) = 0.511) was consistent with that expected from a regular meiotic behaviour orbs in both sexes and with the theoretical value under a Mendelian mode of transmission (0.5). Possible explanations for the dramatic increase in B frequency observed in this population during the last 10 years are discussed, bearing in mind the current absence of drive.

Chromosome numbers of some Brazilian species of diplopods (Diplopoda, Arthropoda)

The present paper presents the chromosome numbers of five brazilian species of diplopods: Plusioporus setiger (2n = 10 and 2n= 10+ lB, the distinction of the sexual pair was not possible), Pseudonannolene ophiulus (2n=12, XY), Pseudonannolene halophila (2n=16, XY), Rhinocricus sp. (2n=28, XY) and Rhinocricus padbergi (2n=20, the distinction of the sexual pair was not possible).

Frequent p53 mutations and occasional loss of chromosome 4 in invasive bladder carcinoma induced by N-butyl-N-(4-hydroxybutil)nitrosamine in B6D2F1 mice

B6D2F1 mice (45/group) were treated with N-butyl-N-(4- hydroxybutyl)nitrosamine (BBN) or uracil as follows: Group 1 received 0.05% BBN in drinking water for the entire experiment, Group 2 received 5 mg of BBN by gastric gavage in 0.1 mL of 20% ethanol twice per week for 10 wk, Group 3 received a 2.5% uracil-containing diet for the entire experiment, and Group 4 was controls (received 0.1 mL of 20% ethanol by gavage twice per week for 10 wk). The surviving mice in Group 1 were killed after week 26 and those in the other groups after week 30. By week 15, three of 11 Group 1 and one of 15 Group 2 mice had bladder carcinoma. By 26 and 30 wk, respectively, invasive carcinomas were observed in 33 of 34 and six of 21 mice in Groups 1 and 2 and renal pelvic carcinomas in 11 of 34 and three of 21 mice in Groups 1 and 2. Four of 19 uracil-treated mice had bladder nodular hyperplasia. By polymerase chain reaction-single-strand conformation polymorphism and sequence analyses, 16 of 20 and two of five bladder carcinomas from Groups 1 and 2, respectively, showed mutations in the p53 gene. Ha-ras mutation was present in one case. Loss of heterozygosity analysis with simple-sequence length polymorphism markers for chromosome 4 showed that 10 of 21, two of 15, and nine of 13 mice in Groups 1-3, respectively, had heterozygous or homozygous deletions. B6D2F1 mice are therefore susceptible to the urothelial carcinogenic effects of BBN and develop frequent p53 mutations and chromosome 4 deletions. Chromosome 4 deletions were also seen with uracil.

Clonal chromosome abnormalities found in three non-neoplastic proliferative brain lesions

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

A cytogenetic study of Diplomystes mesembrinus (Teleostei, Siluriformes, Diplomystidae) with a discussion of chromosome evolution in siluriforms

The mitotic chromosomes, nucleolus organizer regions (NORs), C-banding pattern and nuclear DNA content of Diplomystes mesembrinus were studied. The karyotype, with 2n=56 chromosomes (22m+24sm+6st+4a), has a high chromosome arm number (NF = 102), one chromosome pair with NORs, and a very small amount of heterochromatin. The NOR-bearing arm is entirely heterochromatic and exhibits a marked size polymorphism. The diploid DNA content detected in erythrocyte nuclei of D. mesembrinus was 2.57 ± 0.15 pg/nucleus. The chromosome evolution in Siluriformes is discussed on the basis of available cytogenetic data and it is proposed that 2n=56 is synapomorphic for the order.

Chromosome damage induced by 5-azacytidine under the influence of caffeine or cytosine arabinoside in CHO-K1 (wild-type) and XRS-5 (mutant) cell lines

5-azacytidine (5-azaC) treatment combined with cytosine arabinoside (ara-C) or caffeine were performed in vitro in Chinese hamster cells, CHO-K1 (wild-type) and xrs-5 (mutant) cell lines, in order to compare the cell response to the induction of chromosomal aberrations. Exponentially growing cells were treated with 5-azaC (4-16 uM) for 1 h, the cells were washed and incubated for 7 h, and 500 uM caffeine or 5 uM ara-C were added to the cultures for the last 2 h. In both cell lines, 5-azaC induced a significantly increase (P<0.01) in the frequencies of aberrations; in the combined treatments (5-azaC + Ara-C), a significant reduction (P<0.05) was observed for the aberrations which were randomly distributed. Caffeine had no influence at the same conditions. 5-azaC induced-DNA lesions were probably processed at S/G2 phase in a common pathway in both cell lines, but alternatively, 5-azaC may cause xrs-5 cells to revert to the wild-type.

Application of C-banding in two Arachis wild species, Arachis Pintoi Krapov. and W.C. Gregory and A. villosulicarpa Hoehne to mitotic chromosome analyses

Two wild diploid (2n = 20 chromosomes) and self-pollinating Arachis species, Arachis Pintoi Krapov and W.C. Gregory and A. villosulicarpa Hoehne were submmited to C-band technique to karyotype analyses. Root tips were employed in the analyses. Morphometric data chose that chromosome lengths varied from 3.12 in A. villosulicarpa to 1.45 in A. Pintoi. Karyotype formula obtained was 10sm to A. Pintoi and 9sm + 1m to A. villosulicarpa. There was a predominance of pericentromeric C-band in all mitotic metaphasic chromosomes in both species. Besides C-band values, both species still did not differ in respect to chromosome absolute and relative lengths, centromeric index, symmetry index and total karyotype haploid length. C-band and morphometric data did not show strong or significant differences which could separate these two species of peanut which belong to evolutive different sections.

A radiation hybrid map of bovine X Chromosome (BTAX)

We present a comprehensive radiation hybrid map of the bovine X chromosome (Chr) containing 20 new markers, including both microsatellites and expressed genes. This study was conducted with a 5000-rad whole genome RH cell panel consisting of 90 hybrid cell lines. Retention frequencies of individual markers range from 7.8% for XIST to 31.1% for TGLA325. Statistical analysis with RHMAPPER placed all the loci into five linkage groups under a LOD score criterion of 6.0. These groups could be oriented relative to each other because they included multiple microsatellite loci from the consensus linkage map of the X Chr. Markers included in both this RH map and the bovine cytogenetic map were in a consistent order. The comparative bovine-human map thus generated consists of five blocks of genes, the order of which is conserved, although in the opposite direction when presented as ideograms with p and q arms. Inversions of three blocks account for the difference in gene order across the entirety of the two X Chrs.

Chromosome analysis of two species of sugar cane pests of the genus Mahanarva (Homoptera, Cercopidae)

Studies on the cytogenetics of Homoptera are scarce. Some references in the literature have reported a chromosome number for the genus ranging from n=5 to 19 and 2n=10 to 2n=39 chromosomes. The genus Mahanarva includes two species of agricultural importance as pests of sugar cane culture in Brazil. We report here the first data concerning the chromosome number and morphology of the species Mahanarva fimbriolata and M. posticata. The chromosome number observed for the two species was 2n=19 for males and 2n=20 for females. The sex determining mechanism of these species was of the XX/X0 type (for males and females, respectively), with chromosome X being the smallest in the complement.

Chromosome localization of the ribosomal genes 18S and 5S in four stocks of rainbow trout (Oncorhynchus mykiss) from cultivated and naturalized stocks in Brazil

In the present study, fluorescence in situ hybridization (FISH) was employed to determine the chromosomal location of genes 18S rDNA and 5S rDNA in four rainbow trout stocks. In specimens from the stocks of Núcleo Experimental de Salmonicultura de Campos do Jordão and Gavião river, 18S genes were located at a subterminal position in the long arms of two submetacentric chromosomes, whereas in specimens from stocks of Mount Shasta and Teresópolis they were found in the short arms. In all analyzed stocks, 5S genes were located in two chromosome pairs. In a subtelocentric pair, 5S genes were present in the short arms and, in the other submetacentric pair, 5S genes were at an interstitial position. In the latter, 18S and 5S genes were contiguous. Taking into account that both 18S and 5S rDNA genes have been localized in the short arm of a submetacentric chromosome in almost all rainbow trout samples so far studied, the presence of such genes in the long arm, as seen in the samples from Núcleo Experimental de Salmonicultura de Campos do Jordão and Gavião river, supports the hypothesis of a pericentric inversion involving this chromosome segment in the ancestor line of these stocks. The observed polymorphism allowed the identification of a very useful genomic marker, and may therefore constitute an important tool in the genetic management of rainbow trout stocks.

First chromosome characterization in the neotropical eel, Gymnothorax ocellatus (Pisces, Muraenidae)

Cytogenetics studies in 12 specimens of Gymnothorax ocellatus reveled a diploid chromosome number of 2n=42 (16 metacentrics, 18 submetacentrics and 8 acrocentrics). The nucleolar organizer regions were located in a terminal position on the long arm of the chromosome pair number fifteen. Conspicuous blocks of constitutive heterochromatin were observed in the centromeric and pericentromeric regions of some chromosome pairs. The results obtained are similar to those previously described for others species of this family. However, the cytogenetic informations may be useful in the identification of a possible variety of this species in Brazilian coast and contribute to the understanding of relationships among the species and the process of diversification which occurred in this group. © 2005 The Japan Mendel Society.

Comparative cytogenetics of nine species of Hypoptopomatinae (Teleostei: Siluriformes: Loricariidae): The importance of structural rearrangements in chromosome evolution

Fishes of the subfamily Hypoptopomatinae are very common and found in the lowlands of cis-Andean South America from Venezuela to the north of Argentina. With the main objective of contributing for a better understanding of the importance of chromosome rearrangements in the loricariid evolution, cytogenetic analyses were conducted in nine species of Hypoptopomatinae. The results showed a marked gross karyotypic conservation with the presence of 2n=54 chromosomes in all species analyzed. The main differences were found in the karyotypic formulae level. Most species had a single interstitial Ag-NORs, however terminal Ag-NORs were observed in three species. One species exhibited two Ag-NOR-bearing chromosome pairs. The distribution of C-band positive segments was species specific but chromosome markers were observed among the species analyzed. The gross cytogenetic characteristics observed among the Hypoptopomatinae species are similar to those observed in other primitive Loricariidae species suggesting that small changes, mainly paracentric and pericentric inversion were the main events in the karyotypic evolution of this fish group.