Cytogenetic characterization of Metynnis maculatus (Teleostei; Characiformes): the description in Serrasalminae of a small B chromosome bearing inactive NOR-like sequences

Mitotic chromosomes of Metynnis maculatus (KNER 1860) (Teleostei, Characiformes), a fish species that occurs in the Amazon and Parana-Paraguay river basins, were analyzed for the first time by Giemsa and Ag-NOR staining, C-banding and fluorescence in situ hybridization (FISH) with 18S and 5S rDNA sequences. The basic chromosome number of the species is 2n=62 (32M+22SM+4ST+4A) and, in addition to the 62 regular chromosomes, one small acrocentric supernumerary B chromosome was found in part of the specimens analyzed. Four active NORs were present, and constitutive heterochromatin blocks were found in the pericentromeric region of several chromosomes. A heterochromatic block was also present in the interstitial portion of the submetacentric NOR-bearing pair and the B chromosome was entirely heterochromatic. FISH using an 18S rDNA probe confirmed the results obtained with AgNO(3) staining, and an additional signal was also present on the B chromosomes. 5S rDNA sequences mapped only to the largest acrocentric pair. This is the first description of supernumerary B chromosomes in Serrasalminae, and this karyotype characterization may be useful in further studies about chromosome evolution in this fish group.

The Y Chromosome of the Atelidae Family (Platyrrhini): Study by Chromosome Microdissection

In order to study the intergeneric variability of the Y chromosome, we describe the hybridization of the Y chromosome of Brachyteles arachnoides, obtained by microdissection, to metaphases of Ateles belzebuth marginatus, Lagothrix lagothricha, and Alouatta male specimens. Brachyteles arachnoides (Atelinae) has 62 chromosomes and a very small Y chromosome. Our results showed that the Brachyteles arachnoides Y chromosome probe hybridized to Lagothrix lagothricha metaphases yielding one hybridization signal on only the tiny Y chromosome, and when hybridized with Ateles belzebuth marginatus metaphases it yielded one hybridization signal on two thirds of the small acrocentric Y chromosome. However, no hybridization signal was observed in Alouatta metaphases (subfamily Alouattinae), a closely related genus in the Atelidae family. Furthermore, our data support a close phylogenetic relationship among Brachyteles, Ateles, and Lagothrix and their placement in the Atelinae subfamily, but exclude Alouatta from this group indicating its placement as basal to this group. Copyright (C) 2009 S. Karger AG, Basel

A Comparative Cytogenetic Analysis of 2 Bothriuridae Species and Overview of the Chromosome Data of Scorpiones

The order Scorpiones is one of the most cytogenetically interesting groups within Arachnida by virtue of the combination of chromosome singularities found in the 59 species analyzed so far. In this work, mitotic and meiotic chromosomes of 2 species of the family Bothriuridae were detailed. This family occupies a basal position within the superfamily Scorpionoidea. Furthermore, review of the cytogenetic data of all previously studied scorpions is presented. Light microscopy chromosome analysis showed that Bothriurus araguayae and Bothriurus rochensis possess low diploid numbers compared with those of species belonging to closely related families. Gonadal cells examined under light and in transmission electron microscopy revealed, for the first time, that the Bothriuridae species possess typical monocentric chromosomes, and male meiosis presented chromosomes with synaptic and achiasmatic behavior. Moreover, in the sample of B. araguayae studied, heterozygous translocations were verified. The use of techniques to highlight specific chromosomal regions also revealed additional differences between the 2 Bothriurus species. The results herein recorded and the overview elaborated using the available cytogenetic information of Scorpiones elucidated current understanding regarding the processes of chromosome evolution that have occurred in Bothriuridae and in Scorpiones as a whole.

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3

Split-hand/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome genes: 1q42.2-q43, 6q14.1 and 2q14.2. We characterized the phenotype of nine affected individuals from a large family with the aim of mapping the causative gene. Among the nine affected patients, four had only SHFM of the hands and no tibial defects, three had both defects and two had only unilateral tibial hemimelia. In keeping with previous publications of this and other families, there was clear evidence of both variable expression and incomplete penetrance, the latter bearing hallmarks of anticipation. Segregation analysis and multipoint Lod scores calculations (maximum Lod score of 5.03 using the LINKMAP software) using all potentially informative family members, both affected and unaffected, identified the chromosomal region 17p13.1-17p13.3 as the best and only candidate for harboring a novel mutated gene responsible for the syndrome in this family. The candidate gene CRK located within this region was sequenced but no pathogenic mutation was detected.

Chromosome polymorphism in Astyanax fasciatus (Teleostei, Characidae). 2-Chromosomal location of a satellite DNA

Studies about composition of repetitive sequences and their chromosomal location have been helpful to evolutionary studies in many distinct organisms. In order to keep on assessing the possible relationships among different cytotypes of Astyanax fasciatus (Teleostei, Characiformes) in the Mogi-Guacu River (Sao Paulo State, Brazil), C-banding, chromomycin A 3 staining, and fluorescent in situ hybridization with a repetitive DNA sequence (As51) isolated from Astyanax scabripinnis were performed in the present work. The constitutive heterochromatin was distributed in terminal regions on long arms of submetacentric, subtelocentric, and acrocentric chromosomes and in the terminal region on short arms of a pair of submetacentric chromosomes in both standard cytotypes. This latter heterochromatic site was also GC-rich, as revealed by chromomycin A(3) staining, corresponding to the nucleolar organizer region (NOR), as shown by previous studies. The sites of the satellite As51 DNA were located in terminal regions on long arms of several chromosomes. Some variant karyotypic forms, which diverge from the two standard cytotypes, also presented distinctive chromosomes carrying As51 satellite DNA. It is possible that the standard 2n = 46 cytotype represents an invader population in the Mogi-Guacu River able to interbreed with the resident standard 2n = 48 cytotype. Therefore, the variant karyotypes would be related to a possible viable offspring, where complementary chromosomal rearrangements could favor new locations of the satellite DNA analyzed. Copyright (C) 2008 S. Karger AG, Basel

Genetic and Functional Evidence Implicating DLL1 as the Gene That Influences Susceptibility to Visceral Leishmaniasis at Chromosome 6q27

Background. Visceral leishmaniasis (VL) is caused by Leishmania donovani and Leishmania infantum chagasi. Genome-wide linkage studies from Sudan and Brazil identified a putative susceptibility locus on chromosome 6q27. Methods. Twenty-two single-nucleotide polymorphisms (SNPs) at genes PHF10, C6orf70, DLL1, FAM120B, PSMB1, and TBP were genotyped in 193 VL cases from 85 Sudanese families, and 8 SNPs at genes PHF10, C6orf70, DLL1, PSMB1, and TBP were genotyped in 194 VL cases from 80 Brazilian families. Family-based association, haplotype, and linkage disequilibrium analyses were performed. Multispecies comparative sequence analysis was used to identify conserved noncoding sequences carrying putative regulatory elements. Quantitative reverse-transcription polymerase chain reaction measured expression of candidate genes in splenic aspirates from Indian patients with VL compared with that in the control spleen sample. Results. Positive associations were observed at PHF10, C6orf70, DLL1, PSMB1, and TBP in Sudan, but only at DLL1 in Brazil (combined P = 3 x 10(-4) at DLL1 across Sudan and Brazil). No functional coding region variants were observed in resequencing of 22 Sudanese VL cases. DLL1 expression was significantly (P = 2 x 10(-7)) reduced (mean fold change, 3.5 [SEM, 0.7]) in splenic aspirates from patients with VL, whereas other 6q27 genes showed higher levels (1.27 x 10(-6) < P < .01) than did the control spleen sample. A cluster of conserved noncoding sequences with putative regulatory variants was identified in the distal promoter of DLL1. Conclusions. DLL1, which encodes Delta-like 1, the ligand for Notch3, is strongly implicated as the chromosome 6q27 VL susceptibility gene.

Phylogenetic structure of Guinea-Bissau ethnic groups for mitochondrial DNA and Y chromosome genetic systems

The maternal and paternal genetic profile of Guineans is markedly sub-Saharan West African, with the majority of lineages belonging to L0-L3 mtDNA sub-clusters and E3a-M2 and E1-M33 Y chromosome haplogroups. Despite the sociocultural differences among Guinea-Bissau ethnic groups,marked by the supposedly strict admixture barriers, their genetic pool remains largely common. Their extant variation coalesces at distinct timeframes, from the initial occupation of the area to later inputs of people. Signs of recent expansion in mtDNA haplogroups L2a-L2c and NRY E3a-M2 suggest population growth in the equatorial western fringe, possibly supported by an early local agricultural centre, and to which the Mandenka and the Balanta people may relate. Non-West African signatures are traceable in less frequent extant haplogroups, fitting well with the linguistic and historical evidence regarding particular ethnic groups: the Papel and Felupe-Djola people retain traces of their putative East African relatives; U6 and M1b among Guinea-Bissau Bak-speakers indicate partial diffusion to Sahel of North African lineages; U5b1b lineages in Fulbe and Papel represent a link to North African Berbers, emphasizing the great importance of post-glacial expansions; exact matches of R1b-P25 and E3b1-M78 with Europeans likely trace back to the times of the slave trade.

Compressão de imagem e vídeo com controlador ARM

Este trabalho foi desenvolvido num estágio na empresa ABS GmbH sucursal em Portugal, e teve como foco a compressão de imagem e vídeo com os padrões JPEG e H.264, respetivamente. Foi utilizada a plataforma LeopardBoard DM368, com um controlador ARM9. A análise do desempenho de compressão de ambos os padrões foi realizada através de programas em linguagem C, para execução no processador DM368. O programa para compressão de imagem recebe como parâmetros de entrada o nome e a resolução da imagem a comprimir, e comprime-a com 10 níveis de quantização diferentes. Os resultados mostram que é possível obter uma velocidade de compressão até 73 fps (frames per second) para a resolução 1280x720, e que imagens de boa qualidade podem ser obtidas com rácios de compressão até cerca de 22:1. No programa para compressão de vídeo, o codificador está configurado de acordo com as recomendações para as seguintes aplicações: videoconferência, videovigilância, armazenamento e broadcasting/streaming. As configurações em cada processo de codificação, o nome do ficheiro, o número de frames e a resolução do mesmo representam os parâmetros de entrada. Para a resolução 1280x720, foram obtidas velocidades de compressão até cerca de 68 fps, enquanto para a resolução 1920x1088 esse valor foi cerca de 30 fps. Foi ainda desenvolvida uma aplicação com capacidades para capturar imagens ou vídeos, aplicar processamento de imagem, compressão, armazenamento e transmissão para uma saída DVI (Digital Visual Interface). O processamento de imagem em software permite melhorar dinamicamente as imagens, e a taxa média de captura, compressão e armazenamento é cerca de 5 fps para a resolução 1280x720, adequando-se à captura de imagens individuais. Sem processamento em software, a taxa sobe para cerca de 23 fps para a resolução 1280x720, sendo cerca de 28 fps para a resolução 1280x1088, o que é favorável à captura de vídeo.

The bacterial chromosome segregation protein Spo0J spreads along DNA from parS nucleation sites

Regulation of chromosome inheritance is essential to ensure proper transmission of genetic information. To accomplish accurate genome segregation, cells organize their chromosomes and actively separate them prior to cytokinesis. In Bacillus subtilis the Spo0J protein is required for accurate chromosome segregation and it regulates the developmental switch from vegetative growth to sporulation. Spo0J is a DNA-binding protein that recognizes at least eight identified parS sites located near the origin of replication. As judged by fluorescence microscopy, Spo0J forms discrete foci associated with the oriC region of the chromosome throughout the cell cycle. In an attempt to determine the mechanisms utilized by Spo0J to facilitate productive chromosome segregation, we have investigated the DNA binding activity of Spo0J. In vivo we find Spo0J associates with several kilobases of DNA flanking its specific binding sites (parS) through a parS-dependent nucleation event that promotes lateral spreading of Spo0J along the chromosome. Using purified components we find that Spo0J has the ability to coat non-specific DNA substrates. These 'Spo0J domains' provide large structures near oriC that could potentially demark, organize or localize the origin region of the chromosome.

Cytogenetic analysis of the neotropical spider Nephilengys cruentata (Araneomorphae, tetragnathidae): standard staining, NORs, C-bands and base-specific fluorochromes

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Development of Y-chromosome-Specific SCAR Markers Conserved in Taurine, Zebu and Bubaline Cattle

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

Chromosome polymorphism in the Brazilian dwarf brocket deer, Mazama nana (Mammalia, Cervidae)

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

Mechanism of anticlastogenicity of Agaricus blazei Murill mushroom organic extracts in wild type CHO (K-1) and repair deficient (xrs5) cells by chromosome aberration and sister chromatid exchange assays

Agaricus blazei Murill is a medicinal mushroom native to Brazil. The present work assessed the clastogenic and anticlastogenic potential of organic extracts (ethanol and chloroform/methanol) from the lineage AB97/11 in chinese hamster CHO-K-1 (wild type) and CHO-xrs5 (repair deficient) cells using the chromosome aberration (CA) and sister chromatid exchange (SCE) assays. In these experimental conditions were observed: (a) anticlastogenic effect at concentrations of 0.06 and 0.09% of the EtOH extract and at the 0.03 and 0.06% concentrations of the C/MetOH extract in CHO-K-1; (b) absence of protector effect on CHO-xrs5 cells; and (c) absence of protector effect in the SCE assay. These results indicate that organic extracts of A. blazei lineage AB97/11 present bio-antimutagenic type protective activity. (C) 2003 Elsevier B.V. B.V. All rights reserved.

X-chromosome genetic variation in São Paulo State (Brazil) population

As data on X-chromosomal short tandem repeats (X-STRs) for the Brazilian population are scarse, the aim of this study was to determine the allele frequencies of five X-STRs (DXS6854, DXS7424, DXS101, DXS6808 and DXS7132) in the São Paulo State, Brazil. No deviations from the Hardy-Weinberg equilibrium were observed, with the exception of DXS101. The forensic efficiency parameters demonstrated that DXS101 was the most informative marker. Population comparisons revealed that the X-STR profile sampled in the state of São Paulo was more similar to European and African populations than Asiatic populations reported in this work.

First report of a B chromosome in a natural population of Astyanax altiparanae (Characiformes, Characidae)

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