Cytogenetic characterization of the silverside fish Odontesthes regia (Humboldt, 1833) (Teleostei: Atheriniformes: Atherinopsidae) from Iquique, Chile

This paper describes the karyotype of Odontesthes regia by means of Giemsa staining, C-banding, to reveal the distribution of the constitutive heterochromatin, and by Ag-staining and fluorescent in situ hybridization (FISH), to locate ribosomal genes (rDNA). The chromosome diploid modal count in the species was 2n = 48. The karyotype is composed of one submetacentric pair (pair 1), 16 subtelocentric pairs (pairs 2 to 17), and 7 acrocentric pairs (pairs 18 to 24). With the exception of pair 1 it was not possible to classify the homologous chromosomes accurately because differences in chromosome size were too slight between adjacent pairs. The distribution of C-banded heterochromatin allowed for a more accurate matching of the majority of chromosomes of the subtelocentric series. Silver staining of metaphase spreads allowed for the identification of Nucleolus Organizer Regions (Ag-NOR) on pair 1. FISH experiments showed that 18S rDNA sequences were located, as expected, in the same chromosome pair identified as the Ag-NOR-bearing one.

Similaridade cariotípica entre Barycholos ternetzi e cinco espécies do gênero Eleutherodactylus do Sudoeste do Brasil (Anura, Leptodactylidae, Eleutherodactylinae)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Análise citogenética comparativa em espécies de morcegos da subfamília phyllostominae (chiroptera-phyllostomidae) por citogenética clássica e hibridização in situ Flourescente (fish)

Os morcegos representam um grupo amplamente distribuído e diversificado. A diversidade de hábitos alimentares faz da ordem Chiroptera uma das mais bem sucedidas entre os mamíferos, desempenhando, em função de seus hábitos, um importante papel no controle de insetos, na polinização e na dispersão de sementes de numerosos vegetais. A família Phyllostomidae constitui a terceira maior família em número de espécies dentro da Ordem Chiroptera. Entre as representantes neotropicais é a mais numerosa, sendo encontrada em florestas tropicais da America do Sul, particularmente, concentrada na Amazônia que é a região com maior diversidade de morcegos do mundo. No presente trabalho foram analisados citogeneticamente exemplares de três espécies da subfamília Phyllostominae: Chrotopterus auritus, Trachops cirrhosus e Vampyrum spectrum coletados no estado do Pará e Amazonas. Os dados cromossômicos obtidos para Chrotopterus auritus (2n = 28 e NF = 52) e Trachops cirrhosus (2n = 30, FN = 56) estão de acordo com os descritos na literatura. Para Vampyrum spectrum (2n=30 NF=56) relatamos os primeiros padrões de bandeamento e FISH (Hibridização in situ Fluorescente). A técnica de bandeamento C demonstrou um padrão pericentromérico de distribuição da heterocromatina constitutiva nas três espécies estudadas. A técnica de FISH com sondas de DNA teloméricas humanas mostrou apenas marcações distais em todos os cromossomos das três espécies e as sondas de rDNA 18S confirmaram a localização das Regiões Organizadoras Nucleares observadas na técnica de Ag-NOR, presentes no braço longo do par 2 de Chrotopterus auritus, no par 11 de Trachops cirrhosus e no braço longo do par 1 de Vampyrum spectrum. A análise comparativa entre elas sugere um extenso grau de diferenciação cromossômica, com poucos cromossomos compartilhados entre os três gêneros. Contudo, cinco pares cromossômicos inteiros se mantiveram conservados sem nenhum tipo de rearranjo após a divergência das três linhagens. A comparação entre as espécies revela que C. auritus e V. spectrum apresentam mais elementos compartilhados entre si do que em relação à T. cirrhosus. Nossos resultados apoiam a proximidade filogenética entre C. auritus e V. spectrum e sugerem a associação de T. cirrhosus com o clado do gênero Phyllostomus.

Aplicação de pintura cromossômica em espécies da família Accipitridae (Aves, Falconiformes): considerações filogenéticas e evolutivas

As análises citogenéticas de diversos Falconiformes mostraram que os acipitrídeos têm uma organização cromossômica atípica na classe Aves, com um número diplóide relativamente baixo (média de 2n= 66) e poucos pares de microcromossomos (4 a 6 pares). Propostas baseadas em citogenética clássica sugeriram que esse fato devia-se à fusão de microcromossomos presentes no cariótipo ancestral das Aves. No intuito de contribuir para o esclarecimento das questões referentes à evolução cromossômica e filogenética dessa família, três espécies da subfamília Buteoninae (Rupornis magnirostris, Buteogallus meridionales e Asturina nitida) e duas espécies da subfamília Harpiinae (Harpia harpyja e Morphnus guianensis) foram analisados citogeneticamente através da aplicação de técnicas de citogenética clássica e molecular. As espécies de Buteoninae apresentaram cariótipos muito semelhantes, com número diplóide igual a 68; o número de cromossomos de dois braços entre 17 e 21, o cromossomo Z submetacêntrico e o W metacêntrico em R. magnirostris e submetacêntrico em Asturina nitida. O uso de sondas de 18/28S rDNA mostrou a localização de regiões organizadoras de nucléolo em um par submetacêntrico médio nas três espécies, correspondendo ao braço curto do par 7. Sequências teloméricas foram mapeadas não só na região terminal dos braços, mas também em algumas posições intersticiais. Sondas de cromossomo inteiro derivadas dos pares 1 a 10 de Gallus gallus (GGA) produziram o mesmo número de sinais nessas três espécies. A disponibilidade das sondas de cromossomos totais derivadas de Leucopternis albicollis confirmou a existência de uma assinatura citogenética comum para as espécies de Buteoninae analisadas por FISH, que se trata da associação entre GGA1p e GGA6, inclusive com um sítio de sequência telomérica intersticial reforçando esse fato. As espécies de Harpiinae analisadas mostraram que o número diplóide das espécies de H. harpyja e M. guianensis foi igual a 58 e 54, respectivamente, e que ambas as espécies apresentam vinte e dois pares de cromossomos de dois braços, mesmo Harpia apresentando dois pares a mais. 18/28S rDNA produziram sinais no braço curto do par 1 em M. guianensis e em dois pares em H. harpyja (pares 6 e 25). Sequências teloméricas intersticiais também foram observadas em alguns pares. Apesar da similaridade na morfologia cromossômica, não foram observadas associações compartilhadas por essas duas espécies. As diferentes associações observadas em Morphnus e Harpia mostram que essas espécies sofreram uma reorganização genômica expressiva após sua separação em linhagens independentes. Além disso, ausência de associações semelhantes sugere que houve fissões nos macrocromossomos do ancestral em comum desse grupo, e as fusões foram subsequentes ao seu isolamento como linhagens diferentes. Os resultados aqui apresentados, somados àqueles publicados anteriormente com outras espécies de Accipitridae indicam que os processos de fissões envolvendo os macrocromossomos de GGA e fusões entre esses segmentos e entre esses e microcromossomos são rearranjos recorrentes nesse grupo. Apesar dos Falconidae também apresentarem cariótipos atípicos, e números diploides baixos, os dados globais da citogenética de Accipitridae indicam que, assim como postulado para as semelhanças morfológicas entre esses dois grupos, os cariótipos rearranjados corresponderiam a homoplasias, do ponto de vista evolutivo, apoiando que essas duas famílias não formam um grupo monofilético.

Interação genótipo x ambiente para produção de grãos e podridões de colmo em milho

Pós-graduação em Agronomia (Genética e Melhoramento de Plantas) - FCAV

Estudo citogenético em aranhas (Mygalomorphae e Araneomorphae) com ênfase na evolução dos genes de DNA ribossômico

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

Karyotype characterization reveals an up and down of 45S and 5S rDNA sites in Crotalaria (Leguminosae-Papilionoideae) species of the section Hedriocarpae subsection Macrostachyae

The genus Crotalaria is one of the largest within the family Leguminosae-Papilionoideae, with more than 600 species. However, few karyotypes have been described. In the present paper, five species belonging to the section Hedriocarpae were studied (subsection Machrostachyae), in order to better understand chromosomal evolution in Crotalaria. The results reveals that all species presented 2n = 2x = 16 with symmetrical karyotypes, and slight differences in the chromosome morphology. A secondary constriction was identified at short arm of the pair 1. The 45S rDNA was mapped in the secondary constriction and adjacent heterochromatin (NOR-heterochromatin) and a minor site was identified in C. ochroleuca. The 5S rDNA was mapped linked to 45S rDNA at chromosome 1 short arm in all species. Additional sites for 5S rDNA were identified in C. pallida, C. striata and C. mucronata. Heterochromatin blocks around the centromeres are not CMA(+) neither DAPI(+). The karyotypes of the subsection Macrostachyae are characterized by an inversion at chromosome pair one in relation to previous specialized floral species analyzed. Additional sites of 45S and 5S rDNA were assumed to be a result of transposition events by different ways. The results suggest heterochromatin differentiation and the position of ribosomal genes indicates chromosomal rearrangements during evolution. Karyotype characteristics corroborate the morphological infrageneric classification.

Reduced neutrophil count in people of African descent is due to a regulatory variant in the Duffy antigen receptor for chemokines gene.

Persistently low white blood cell count (WBC) and neutrophil count is a well-described phenomenon in persons of African ancestry, whose etiology remains unknown. We recently used admixture mapping to identify an approximately 1-megabase region on chromosome 1, where ancestry status (African or European) almost entirely accounted for the difference in WBC between African Americans and European Americans. To identify the specific genetic change responsible for this association, we analyzed genotype and phenotype data from 6,005 African Americans from the Jackson Heart Study (JHS), the Health, Aging and Body Composition (Health ABC) Study, and the Atherosclerosis Risk in Communities (ARIC) Study. We demonstrate that the causal variant must be at least 91% different in frequency between West Africans and European Americans. An excellent candidate is the Duffy Null polymorphism (SNP rs2814778 at chromosome 1q23.2), which is the only polymorphism in the region known to be so differentiated in frequency and is already known to protect against Plasmodium vivax malaria. We confirm that rs2814778 is predictive of WBC and neutrophil count in African Americans above beyond the previously described admixture association (P = 3.8 x 10(-5)), establishing a novel phenotype for this genetic variant.

Abnormalities on 1q and 7q are associated with poor outcome in sporadic Burkitt's lymphoma. A cytogenetic and comparative genomic hybridization study.

Comparative genomic hybridization (CGH) studies have demonstrated a high incidence of chromosomal imbalances in non-Hodgkin's lymphoma. However, the information on the genomic imbalances in Burkitt's Lymphoma (BL) is scanty. Conventional cytogenetics was performed in 34 cases, and long-distance PCR for t(8;14) was performed in 18 cases. A total of 170 changes were present with a median of four changes per case (range 1-22). Gains of chromosomal material (143) were more frequent than amplifications (5) or losses (22). The most frequent aberrations were gains on chromosomes 12q (26%), Xq (22%), 22q (20%), 20q (17%) and 9q (15%). Losses predominantly involved chromosomes 13q (17%) and 4q (9%). High-level amplifications were present in the regions 1q23-31 (three cases), 6p12-p25 and 8p22-p23. Upon comparing BL vs Burkitt's cell leukemia (BCL), the latter had more changes (mean 4.3 +/- 2.2) than BL (mean 2.7 +/- 3.2). In addition, BCL cases showed more frequently gains on 8q, 9q, 14q, 20q, and 20q, 9q, 8q and 14q, as well as losses on 13q and 4q. Concerning outcome, the presence of abnormalities on 1q (ascertained either by cytogenetics or by CGH), and imbalances on 7q (P=0.01) were associated with a short survival.

Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26

Endometriosis is a common gynecological disease that affects up to 10% of women in their reproductive years. It causes pelvic pain, severe dysmenorrhea, and subfertility. The disease is defined as the presence of tissue resembling endometrium in sites outside the uterus. Its cause remains uncertain despite >50 years of hypothesis-driven research, and thus the therapeutic options are limited. Disease predisposition is inherited as a complex genetic trait, which provides an alternative route to understanding the disease. We seek to identify susceptibility loci, using a positional-cloning approach that starts with linkage analysis to identify genomic regions likely to harbor these genes. We conducted a linkage study of 1,176 families (931 from an Australian group and 245 from a U.K. group), each with at least two members--mainly affected sister pairs--with surgically diagnosed disease. We have identified a region of significant linkage on chromosome 10q26 (maximum LOD score [MLS] of 3.09; genomewide P = .047) and another region of suggestive linkage on chromosome 20p13 (MLS = 2.09). Minor peaks (with MLS > 1.0) were found on chromosomes 2, 6, 7, 8, 12, 14, 15, and 17. This is the first report of linkage to a major locus for endometriosis. The findings will facilitate discovery of novel positional genetic variants that influence the risk of developing this debilitating disease. Greater understanding of the aberrant cellular and molecular mechanisms involved in the etiology and pathophysiology of endometriosis should lead to better diagnostic methods and targeted treatments.

Measurement of the top pair production cross section in the dilepton decay channel in pp̅ collisions at √s=1.96 TeV

A measurement of the $\ttbar$ production cross section in $\ppbar$ collisions at $\sqrt{{\rm s}}$ = 1.96 TeV using events with two leptons, missing transverse energy, and jets is reported. The data were collected with the CDF II Detector. The result in a data sample corresponding to an integrated luminosity 2.8 fb$^{-1}$ is: $\sigma_{\ttbar}$ = 6.27 $\pm$ 0.73(stat) $\pm$ 0.63(syst) $\pm$ 0.39(lum) pb. for an assumed top mass of 175 GeV/$c^{2}$.

Search for Pair Production of Supersymmetric Top Quarks in Dilepton Events from pp̅ Collisions at √s=1.96 TeV

We present the results of a search for pair production of the supersymmetric partner of the top quark (the stop quark $\tilde{t}_{1}$) decaying to a $b$-quark and a chargino $\chargino$ with a subsequent $\chargino$ decay into a neutralino $\neutralino$, lepton $\ell$, and neutrino $\nu$. Using a data sample corresponding to 2.7 fb$^{-1}$ of integrated luminosity of $p\bar{p}$ collisions at $\sqrt{s} = 1.96$ TeV collected by the CDF II detector, we reconstruct the mass of candidate stop events and fit the observed mass spectrum to a combination of standard model processes and stop quark signal. We find no evidence for $\pairstop$ production and set 95% C.L. limits on the masses of the stop quark and the neutralino for several values of the chargino mass and the branching ratio ${\cal B}(\chargino\to\neutralino\ell^{\pm}\nu)$.

Stereoselectivity in the addition of hydrogen chloride to cyclohex-1-enecarbonitrile: Possible role of chlorine lone pair-nitrile π-orbital pseudoallylic A1, 3 interaction

The (overall trans) addition of hydrogen chloride to cyclohex-1- enecarbonitrile in anhydrous alcoholic media proceeds to give cis-2-chlorocyclohexanecarboxylate (together with some cis-2- chlorocyclohexanecarboxamide): no corresponding products with the trans-configuration are detectable. In anhydrous ether the addition proceeds to give a single isomer, presumably cis-, of 2-chlorocyclohexanecarbonitrile, indicating that the configuration of the products may not be equilibrium-controlled in alcoholic media. An examination of the steric factors indicates that the transition state for protonation of the presumed intermediate, 2-chlorocyclohexylidenemethylideneimine, leading to cis-product is favoured if interaction between the lateral π-orbital of the C-N double bond and the lone-pairs on the chlorine atom at the 2-position is large. Consideration of interactions in the transition states meets Zimmerman's criticism that invoking A1, 3 interaction existing in ground states to explain product configuration takes insufficient account of the Curtin-Hammett principle.

STUDIES ON ORGANOLANTHANIDE COMPLEXES .56. FORMATION OF ION-PAIR COMPLEXES [NA.3PHEN]+[LN(C5H5)3CL]-.PHEN (LN=LA, PR OR ND, PHEN = 1,10-PHENANTHROLINE) AND CRYSTAL-STRUCTURE FOR LN=PR

In the presence of 1,10-phenanthroline (phen), lanthanide chlorides LnCl3 reacted with cyclopentadienylsodium to give the novel complexes [Na.3phen]+[Ln(C5H5)3Cl]-.phen (Ln = La, Pr or Nd). In the praseodymium case, crystal structure analysis showed that