Comparative genomic hybridization analysis detects frequent over-representation of DNA sequences at 3q, 7p, and 8q in head and neck carcinomas

Comparative genomic hybridization (CGH) was used to identify chromosomal imbalances in 19 samples of squamous cell carcinoma of the head and neck (HNSCC). The chromosome arms most often or er-represented were 3q (48%), 8q (42%), and 7p (32%); in many cases, these changes were observed at high copy number. Other commonly over-represented sites were 1q, 2q, 6p, 6q, and 18q. The most frequently under-represented segments were 3p and 22q. Loss of heterozygosity of two polymorphic microsatellite loci from chromosome 22 was observed in two tongue tumors, in agreement with the CGH analysis. Gains of 1q and 2q material were detected in patients exhibiting a clinical history of recurrence and/or metastasis followed by terminal disease. This association suggests that gain of 1q and 2q map be a new marker of head and neck tumors with a refractory clinical response. (C) 2000 Elsevier B.V. All rights reserved.

Comparative genomic hybridization analysis of benign and invasive male breast neoplasms

Comparative genomic hybridization (CGH) analysis was performed for the identification of chromosomal imbalances in two benign gynecomastias and one malignant breast carcinoma derived from patients with male breast disease and compared with cytogenetic analysis in two of the three cases. CGH analysis demonstrated overrepresentation of 8q in all three cases. One case of gynecomastia presented gain of 1p34.3similar topter. 11p14similar toq12. and 17p11.2similar toqter, and loss of 1q41similar toqter and 4q33similar toqter. The other gynecomastia presented del(1)(q41) as detected by both cytogenetic and CGH analysis. CGH analysis of the invasive ductal carcinoma confirmed a gain of 17p11.2similar toqter previously detected by cytogenetic analysis. These regions showed some similarity in their pattern of imbalance to the chromosomal alterations described in female and male breast cancer. (C) 2002 Elsevier B.V. All rights reserved.

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.

Morphologically differentiated sex chromosomes in neotropical freshwater fish

A general survey of the occurrence of morphologically differentiated sex chromosomes in the neotropical freshwater fishes is presented. The total number of 32 occurrences involving simple XX-XY and ZZ-ZW, and multiple X1X2Y, XY1Y2 and ZW1W2 sex chromosome systems is described, with comments on the aspects of sex chromosome evolution in this fish fauna. The occurrence of different sex chromosome systems in related species of the same genus, or in different populations of the same nominal species, involving male and sometimes female heterogamety, and differences in the molecular composition of sex-linked heterochromatin, are considered as indicative of the early stage of sex chromosomes evolution in fish.

Paternity study of an interspecific natural hybrid of the genus Eucalyptus L'Hér (Myrtaceae) based on cytogenetic data

Three species of the genus Eucalyptus (E. dunni, E. grandis, E. saligna) and interspecific hybrid were studied cytogenetically. The Eucalyptus species and the hybrid showed a symmetrical karyotype with 2n=22 chromosomes, with chromosome length ranging from 0.67 to 1.39 μm. Karyotypic analysis indicated a homogenous morphology and chromosome number for the species and the hybrid studied here. Based on the karyotype asymmetry data, together with the chromosome morphology results, the hybrid presented close similarity to E. saligna, suggesting that the latter is one of the parental species involved in the production of the hybrid.

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.

Cytogenetic analysis of A-, B-chromosomes and ZZ/ZW sex chromosomes of Characidium gomesi (Teleostei, Characiformes, Crenuchidae)

Different cytogenetic techniques were used to analyze the chromosomes of Characidium gomesi with the main objective of comparing the base composition of ZZ/ZW sex-chromosomes, B-chromosomes and the heterochromatin of A-chromosomes. The results of digestion of chromosomes with AluI restriction endonuclease (RE), silver and CMA3 staining, C-banding and fluorescence in situ hybridization (FISH) with the 18S rDNA probe suggested the existence of compositional differences between the heterochromatin of ZZ/ZW sex-chromosomes, A- and B-chromosomes, and indicated the presence of different numbers and morphology of B-chromosomes in the samples of this population.

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.

Subtelomeric region of chromosome 2 in patients with autism spectrum disorders

Autism spectrum disorders are severe psychiatric diseases commonly identified in the population. They are diagnosed during childhood and the etiology has been much debated due to their variations and complexity. Onset is early and characterized as communication and social interaction disorders and as repetitive and stereotyped behavior. Austistic disorders may occur together with various genetic and chromosomal diseases. Several chromosomal regions and genes are implicated in the predisposition for these diseases, in particular those with products expressed in the central nervous system. There are reports of autistic and mentally handicapped patients with submicroscopic subtelomeric alterations at the distal end of the long arm of chromosome 2. Additionally, there is evidence that alterations at 2q37 cause brain malformations that result in the autistic phenotype. These alterations are very small and not identified by routine cytogenetics to which patients are normally submitted, which may result in an underestimation of the diagnosis. This study aimed at evaluating the 2q37 region in patients with autistic disorders. Twenty patients were studied utilizing the fluorescence in situ hybridization technique with a specific probe for 2q37. All of them were also studied by the GTC banding technique to identify possible chromosomal diseases. No alterations were observed in the 2q37 region of the individuals studied, and no patient presented chromosomal diseases. This result may be due to the small sample size analyzed. The introduction of routine analysis of the 2q37 region for patients with autistic disorders depends on further studies. ©FUNPEC-RP.

Development and Biotechnological Application of a Novel Endoxylanase Family GH10 Identified from Sugarcane Soil Metagenome

Metagenomics has been widely employed for discovery of new enzymes and pathways to conversion of lignocellulosic biomass to fuels and chemicals. In this context, the present study reports the isolation, recombinant expression, biochemical and structural characterization of a novel endoxylanase family GH10 (SCXyl) identified from sugarcane soil metagenome. The recombinant SCXyl was highly active against xylan from beechwood and showed optimal enzyme activity at pH 6,0 and 45°C. The crystal structure was solved at 2.75 Å resolution, revealing the classical (β/α)8-barrel fold with a conserved active-site pocket and an inherent flexibility of the Trp281-Arg291 loop that can adopt distinct conformational states depending on substrate binding. The capillary electrophoresis analysis of degradation products evidenced that the enzyme displays unusual capacity to degrade small xylooligosaccharides, such as xylotriose, which is consistent to the hydrophobic contacts at the +1 subsite and low-binding energies of subsites that are distant from the site of hydrolysis. The main reaction products from xylan polymers and phosphoric acid-pretreated sugarcane bagasse (PASB) were xylooligosaccharides, but, after a longer incubation time, xylobiose and xylose were also formed. Moreover, the use of SCXyl as pre-treatment step of PASB, prior to the addition of commercial cellulolytic cocktail, significantly enhanced the saccharification process. All these characteristics demonstrate the advantageous application of this enzyme in several biotechnological processes in food and feed industry and also in the enzymatic pretreatment of biomass for feedstock and ethanol production. © 2013 Alvarez et al.

Caracterização citogenética das espécies matrinxã (Brycon amazonicus), piraputanga (Brycon hilarii) e sua geração filial, utilizados na piscicultura brasileira

Pós-graduação em Ciências Biológicas (Zoologia) - IBB

Estudios citogenéticos en teleosteos marinos y dulceacuícolas de venezuela

Pós-graduação em Ciências Biológicas (Zoologia) - IBB

Bandamento em cromossomos de peixes: discussão sobre o conceito de compartimentalização cromossômica

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Interploidy hybridization in sympatric zones: the formation of Epidendrum fulgens x E. puniceoluteum hybrids (Epidendroideae, Orchidaceae)

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

A method for chromosome preparations from large fish specimens using in vitro short-term treatment with colchicine

This paper describes a new technique for preparing mitotic fish chromosomes using short-term in vitro treatment with colchicine. The results show that a large number of good quality metaphases (many suitable for chromosome banding) can be obtained by this technique, which requires an average of 1 h and 30 min for all steps. The procedure considerably reduces the time normally required for chromosome preparations in fish.