Ring chromosome instability evaluation in six patients with autosomal rings

Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events. We investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18 by examining 48- and 72-h lymphocyte cultures at the first, second and subsequent cell divisions after bromodeoxyuridine incorporation. Although most cells from all patients showed only one monocentric ring chromosome, ring chromosome loss and secondary aberrations were observed both in 48-and 72-h lymphocyte cultures and in metaphase cells of the different cell generations. We found no clear-cut correlation between ring size and ring instability; we also did not find differences between apparently complete rings and rings with genetic material loss. The cytogenetic findings revealed secondary aberrations in all ring chromosome patients. We concluded that cells with ring chromosome instability can multiply and survive in vivo, and that they can influence the patient's phenotype.

Gene silencing during development of in vitro-produced female bovine embryos

In early development, female embryos (XX) produce twice the transcripts of X-linked genes compared with male embryos (XY). During the course of development, inactivation of the X chromosome equilibrates gene dosage, making the development of female embryos viable. Moreover, the biotechnologies used for producing embryos in vitro seem to work better with male embryos, making it easier for them to reach the blastocyst stage and allow for complete gestation. We investigated the expression of three X-linked genes that are involved in development, XIST, G6PD, and HPRT, and of the transcript interferon-tau, in male and female bovine blastocysts produced by nuclear transfer (NT) and by in vitro fertilization (IVF). Oocytes that had been matured in vitro were enucleated and reconstructed with somatic cells from adult animals at 18 h post-maturation. After fusion (two pulses of 2.25 kv/cm) and chemical activation (5.0 mu M ionomycin for 5 min and 2.0 mM 6-DMAP for 3 h), the oocytesomatic cell units were cultivated in CR2 with a monolayer of granulosa cells at 38.8 degrees C, in a humidified 5% CO(2) atmosphere. IVF embryos were inseminated, after centrifugation in a Percoll gradient, with 2 x 10(6) sperm/mL TALP medium supplemented with BSA and PHE and cultivated under the same conditions as the cloned embryos. We used real-time PCR to analyze the gene expression of individual blastocysts compared to expression of the housekeeping gene, GAPDH. The gene XIST was expressed in female embryos and not in male embryos produced by IVF, though it was expressed at low levels in male embryos produced by NT. Unlike previous reports, we found lower levels of the transcript of G6PD in females than in males, suggesting double silencing or other mechanisms of control of this gene. Female embryos produced by IVF expressed the HPRT gene at a higher level than female embryos produced by NT, suggesting that gene silencing proceeds faster in NT-produced female embryos due to ""inactivation memory"" from the nucleus donor. In conclusion, male and female embryos express different levels of X-chromosome genes and failures of these genes that are essential for development could reduce the viability of females. Nuclear transfer can modify this relation, possibly due to epigenetic memory, leading to frequent failures in nuclear reprogramming.

Effects of polymorphisms of LHR and FSHR genes on sexual precocity in a Bos taurus x Bos indicus beef composite population

The purpose of the present research was to investigate the effects of polymorphisms of luteinizing hormone receptor (LHR) and follicle-stimulating hormone receptor (FSHR) genes, evaluated by polymerase chain reaction-restriction fragment length polymorphism in European-Zebu composite beef heifers from six different breed compositions. The polymorphism site analysis from digestion with HhaI and AluI restriction endonucleases allowed the genotype identification for LHR (TT, CT and CC) and FSHR (GG, CG and CC) genes. A high frequency of heterozygous animals was recorded in all breed compositions for both genes, except in two compositions for LHR. The probability of pregnancy (PP) at first breeding was used to evaluate the polymorphism effect on sexual precocity. The PP was analyzed as a binary trait, with a value of 1 (success) assigned to heifers that were diagnosed pregnant by rectal palpation and a value of 0 (failure) assigned to those that were not pregnant at that time. Heterozygous heifers showed a higher pregnancy rate (67 and 66% for LHR and FSHR genes, respectively), but no significant effects were observed for the genes studied (P=0.9188 and 0.8831 for LHR and FSHR, respectively) on the PP. These results do not justify the inclusion of LHR and FSHR restriction fragment length polymorphism markers in selection programs for sexual precocity in beef heifers. Nevertheless, these markers make possible the genotype characterization and may be used in additional studies to evaluate the genetic structure in other bovine populations.

Transiting exoplanets from the CoRoT space mission X. CoRoT-10b: a giant planet in a 13.24 day eccentric orbit

Context. The space telescope CoRoT searches for transiting extrasolar planets by continuously monitoring the optical flux of thousands of stars in several fields of view. Aims. We report the discovery of CoRoT-10b, a giant planet on a highly eccentric orbit (e = 0.53 +/- 0.04) revolving in 13.24 days around a faint (V = 15.22) metal-rich K1V star. Methods. We used CoRoT photometry, radial velocity observations taken with the HARPS spectrograph, and UVES spectra of the parent star to derive the orbital, stellar, and planetary parameters. Results. We derive a radius of the planet of 0.97 +/- 0.07 R(Jup) and a mass of 2.75 +/- 0.16 M(Jup). The bulk density,rho(p) = 3.70 +/- 0.83 g cm(-3), is similar to 2.8 that of Jupiter. The core of CoRoT-10b could contain up to 240 M(circle plus) of heavy elements. Moving along its eccentric orbit, the planet experiences a 10.6-fold variation in insolation. Owing to the long circularisation time, tau(circ) > 7 Gyr, a resonant perturber is not required to excite and maintain the high eccentricity of CoRoT-10b.

Optical identification of the transient supersoft X-ray source RX J0527.8-6954, in the LMC

Context. Close binary supersoft X-ray sources (CBSS) are binary systems that contain a white dwarf with stable nuclear burning on its surface. These sources, first discovered in the Magellanic Clouds, have high accretion rates and near-Eddington luminosities (10(37)-10(38) erg s(-1)) with high temperatures (T = 2-7 x 10(5) K). Aims. The total number of known objects in the MC is still small and, in our galaxy, even smaller. We observed the field of the unidentified transient supersoft X-ray source RX J0527.8-6954 in order to identify its optical counterpart. Methods. The observation was made with the IFU-GMOS on the Gemini South telescope with the purpose of identifying stars with possible He II or Balmer emission or else of observing nebular extended jets or ionization cones, features that may be expected in CBSS. Results. The X-ray source is identified with a B5e V star that is associated with subarcsecond extended H alpha emission, possibly bipolar. Conclusions. If the primary star is a white dwarf, as suggested by the supersoft X-ray spectrum, the expected orbital period exceeds 21 h; therefore, we believe that the 9.4 h period found so far is not associated to this system.

PRECESSING JETS AND X-RAY BUBBLES FROM NGC 1275 (3C 84) IN THE PERSEUS GALAXY CLUSTER: A VIEW FROM THREE-DIMENSIONAL NUMERICAL SIMULATIONS

The Perseus galaxy cluster is known to present multiple and misaligned pairs of cavities seen in X-rays, as well as twisted kiloparsec-scale jets at radio wavelengths; both morphologies suggest that the active galactic nucleus (AGN) jet is subject to precession. In this work, we performed three-dimensional hydrodynamical simulations of the interaction between a precessing AGN jet and the warm intracluster medium plasma, whose dynamics are coupled to a Navarro-Frenk-White dark matter gravitational potential. The AGN jet inflates cavities that become buoyantly unstable and rise up out of the cluster core. We found that under certain circumstances precession can originate multiple pairs of bubbles. For the physical conditions in the Perseus cluster, multiple pairs of bubbles are obtained for a jet precession opening angle >40 degrees acting for at least three precession periods, reproducing both radio and X-ray maps well. Based on such conditions, assuming that the Bardeen-Peterson effect is dominant, we studied the evolution of the precession opening angle of this system. We were able to constrain the ratio between the accretion disk and the black hole angular momenta as 0.7-1.4. We were also able to constrain the present precession angle to 30 degrees-40 degrees, as well as the approximate age of the inflated bubbles to 100-150 Myr.

Star formation history of Canis Major R1 I. Wide-Field X-ray study of the young stellar population

Aims. The CMa R1 star-forming region contains several compact clusters as well as many young early-B stars. It is associated with a well-known bright rimmed nebula, the nature of which is unclear (fossil HII region or supernova remnant). To help elucidate the nature of the nebula, our goal was to reconstruct the star-formation history of the CMa R1 region, including the previously unknown older, fainter low-mass stellar population, using X-rays. Methods. We analyzed images obtained with the ROSAT satellite, covering similar to 5 sq. deg. Complementary VRI photometry was performed with the Gemini South telescope. Colour-magnitude and colour-colour diagrams were used in conjunction with pre-main sequence evolutionary tracks to derive the masses and ages of the X-ray sources. Results. The ROSAT images show two distinct clusters. One is associated with the known optical clusters near Z CMa, to which similar to 40 members are added. The other, which we name the ""GU CMa"" cluster, is new, and contains similar to 60 members. The ROSAT sources are young stars with masses down to M(star) similar to 0.5 M(circle dot), and ages up to 10 Myr. The mass functions of the two clusters are similar, but the GU CMa cluster is older than the cluster around Z CMa by at least a few Myr. Also, the GU CMa cluster is away from any molecular cloud, implying that star formation must have ceased; on the contrary (as already known), star formation is very active in the Z CMa region.

Cluster and cluster galaxy evolution history from IR to X-ray observations of the young cluster RX J1257.2+4738 at z=0.866

Context. The cosmic time around the z similar to 1 redshift range appears crucial in the cluster and galaxy evolution, since it is probably the epoch of the first mature galaxy clusters. Our knowledge of the properties of the galaxy populations in these clusters is limited because only a handful of z similar to 1 clusters are presently known. Aims. In this framework, we report the discovery of a z similar to 0.87 cluster and study its properties at various wavelengths. Methods. We gathered X-ray and optical data (imaging and spectroscopy), and near and far infrared data (imaging) in order to confirm the cluster nature of our candidate, to determine its dynamical state, and to give insight on its galaxy population evolution. Results. Our candidate structure appears to be a massive z similar to 0.87 dynamically young cluster with an atypically high X-ray temperature as compared to its X-ray luminosity. It exhibits a significant percentage (similar to 90%) of galaxies that are also detected in the 24 mu m band. Conclusions. The cluster RXJ1257.2+4738 appears to be still in the process of collapsing. Its relatively high temperature is probably the consequence of significant energy input into the intracluster medium besides the regular gravitational infall contribution. A significant part of its galaxies are red objects that are probably dusty with on-going star formation.

Populations III.1 and III.2 gamma-ray bursts: constraints on the event rate for future radio and X-ray surveys

Aims. We calculate the theoretical event rate of gamma-ray bursts (GRBs) from the collapse of massive first-generation (Population III; Pop III) stars. The Pop III GRBs could be super-energetic with the isotropic energy up to E(iso) greater than or similar to 10(55-57) erg, providing a unique probe of the high-redshift Universe. Methods. We consider both the so-called Pop III.1 stars (primordial) and Pop III.2 stars (primordial but affected by radiation from other stars). We employ a semi-analytical approach that considers inhomogeneous hydrogen reionization and chemical evolution of the intergalactic medium. Results. We show that Pop III.2 GRBs occur more than 100 times more frequently than Pop III.1 GRBs, and thus should be suitable targets for future GRB missions. Interestingly, our optimistic model predicts an event rate that is already constrained by the current radio transient searches. We expect similar to 10-10(4) radio afterglows above similar to 0.3 mJy on the sky with similar to 1 year variability and mostly without GRBs (orphans), which are detectable by ALMA, EVLA, LOFAR, and SKA, while we expect to observe maximum of N < 20 GRBs per year integrated over at z > 6 for Pop III.2 and N < 0.08 per year integrated over at z > 10 for Pop III.1 with EXIST, and N < 0.2 for Pop III.2 GRBs per year integrated over at z > 6 with Swift.

The taxonomic status of the endangered thin-spined porcupine, Chaetomys subspinosus (Olfers, 1818), based on molecular and karyologic data

Background: The thin-spined porcupine, also known as the bristle-spined rat, Chaetomys subspinosus (Olfers, 1818), the only member of its genus, figures among Brazilian endangered species. In addition to being threatened, it is poorly known, and even its taxonomic status at the family level has long been controversial. The genus Chaetomys was originally regarded as a porcupine in the family Erethizontidae, but some authors classified it as a spiny-rat in the family Echimyidae. Although the dispute seems to be settled in favor of the erethizontid advocates, further discussion of its affinities should be based on a phylogenetic framework. In the present study, we used nucleotide-sequence data from the complete mitochondrial cytochrome b gene and karyotypic information to address this issue. Our molecular analyses included one individual of Chaetomys subspinosus from the state of Bahia in northeastern Brazil, and other hystricognaths. Results: All topologies recovered in our molecular phylogenetic analyses strongly supported Chaetomys subspinosus as a sister clade of the erethizontids. Cytogenetically, Chaetomys subspinosus showed 2n = 52 and FN = 76. Although the sexual pair could not be identified, we assumed that the X chromosome is biarmed. The karyotype included 13 large to medium metacentric and submetacentric chromosome pairs, one small subtelocentric pair, and 12 small acrocentric pairs. The subtelocentric pair 14 had a terminal secondary constriction in the short arm, corresponding to the nucleolar organizer region (Ag-NOR), similar to the erethizontid Sphiggurus villosus, 2n = 42 and FN = 76, and different from the echimyids, in which the secondary constriction is interstitial. Conclusion: Both molecular phylogenies and karyotypical evidence indicated that Chaetomys is closely related to the Erethizontidae rather than to the Echimyidae, although in a basal position relative to the rest of the Erethizontidae. The high levels of molecular and morphological divergence suggest that Chaetomys belongs to an early radiation of the Erethizontidae that may have occurred in the Early Miocene, and should be assigned to its own subfamily, the Chaetomyinae.

Genes up- and down-regulated by dermcidin in breast cancer: a microarray analysis

Dermcidin (DCD) is a human gene mapped to chromosome 12q13 region, which is co-amplified with multiple oncogenes with a well-established role in the growth, survival and progression of breast cancers. Here, we present a summary of a DNA microarray-based study that identified the genes that are up- and down-regulated in a human MDA-361 pLKO control clone and three clones expressing short hairpin RNA against three different regions of DCD mRNA. A list of 235 genes was differentially expressed among independent clones (> 3-fold change and P < 0.005). The gene expression of 208 was reduced and of 27 was increased in the three DCD-RNAi clones compared to pLKO control clone. The expression of 77 genes (37%) encoding for enzymes involved in amino acid metabolism, glucose metabolism and oxidoreductase activity and several genes required for cell survival and DNA repair were decreased. The expression of EGFR/ErbB-1 gene, an important predictor of outcome in breast cancer, was reduced together with the genes for betacellulin and amphiregulin, two known ligands of EGFR/ErbB receptors. Many of the 27 genes up-regulated by DCD-RNAi expression have not yet been fully characterized; among those with known function, we identified the calcium-calmodulin-dependent protein kinase-II delta and calcineurin A alpha. We compared 132 up-regulated and 12 down-regulated genes in our dataset with those genes up- and down-regulated by inhibitors targeting various signaling pathway components. The analysis showed that the genes in the DCD pathway are aligned with those functionally influenced by the drugs sirolimus, LY-294002 and wortmannin. Therefore, DCD may exert its function by activating the PI3K/AKT/mTOR signaling pathway. Together, these bioinformatic approaches suggest the involvement of DCD in the regulation of genes for breast cancer cell metabolism, proliferation and survival.

Crystallization and preliminary X-ray analysis of LipL32 from Leptospira interrogans serovar Copenhageni

LipL32 is a major surface protein that is expressed during infection by pathogenic Leptospira. Here, the crystallization of recombinant LipL32(21-272), which corresponds to the mature LipL32 protein minus its N-terminal lipid-anchored cysteine residue, is described. Selenomethionine-labelled LipL32(21-272) crystals diffracted to 2.25 angstrom resolution at a synchrotron source. The space group was P3(1)21 or P3(2)21 and the unit-cell parameters were a = b = 126.7, c = 96.0 angstrom.

Induction of mitotic crossing-over in diploid strains of Aspergillus nidulans using low-dose X-rays

As a contribution towards detecting the genetic effects of low doses of genotoxic physical agents, this paper deals with the consequences of low-dose X-rays in the Aspergillus nidulans genome. The irradiation doses studied were those commonly used in dental clinics (1-5 cGy). Even very low doses promoted increased mitotic crossing-over frequencies in diploid strains heterozygous for several genetic markers including the ones involved in DNA repair and recombination mechanisms. Genetic markers of several heterozygous strains were individu`ally analyzed disclosing that some markers were especially sensitive to the treatments. These markers should be chosen as bio-indicators in the homozygotization index assay to better detect the recombinogenic/carcinogenic genomic effects of low-dose X-rays.

Structure of disordered gold-polymer thin films using small angle x-ray scattering

We have investigated the structure of disordered gold-polymer thin films using small angle x-ray scattering and compared the results with the predictions of a theoretical model based on two approaches-a structure form factor approach and the generalized Porod law. The films are formed of polymer-embedded gold nanoclusters and were fabricated by very low energy gold ion implantation into polymethylmethacrylate (PMMA). The composite films span (with dose variation) the transition from electrically insulating to electrically conducting regimes, a range of interest fundamentally and technologically. We find excellent agreement with theory and show that the PMMA-Au films have monodispersive or polydispersive characteristics depending on the implanted ion dose. (C) 2010 American Institute of Physics. [doi:10.1063/1.3493241]

X-ray phase measurements as a probe of small structural changes in doped nonlinear optical crystals

X-ray multiple diffraction experiments with synchrotron radiation were carried out on pure and doped nonlinear optical crystals: NH(4)H(2)PO(4) and KH(2)PO(4) doped with Ni and Mn, respectively. Variations in the intensity profiles were observed from pure to doped samples, and these variations correlated with shifts in the structure factor phases, also known as triplet phases. This result demonstrates the potential of X-ray phase measurements to study doping in this type of single crystal. Different methodologies for probing structural changes were developed. Dynamical diffraction simulations and curve fitting procedures were also necessary for accurate phase determination. Structural changes causing the observed phase shifts are discussed.