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Sample records for gross chromosomal alterations

  1. Ploidy influences cellular responses to gross chromosomal rearrangements in saccharomyces cerevisiae

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    Lemoine Sophie

    2011-06-01

    Full Text Available Abstract Background Gross chromosomal rearrangements (GCRs such as aneuploidy are key factors in genome evolution as well as being common features of human cancer. Their role in tumour initiation and progression has not yet been completely elucidated and the effects of additional chromosomes in cancer cells are still unknown. Most previous studies in which Saccharomyces cerevisiae has been used as a model for cancer cells have been carried out in the haploid context. To obtain new insights on the role of ploidy, the cellular effects of GCRs were compared between the haploid and diploid contexts. Results A total number of 21 haploid and diploid S. cerevisiae strains carrying various types of GCRs (aneuploidies, nonreciprocal translocations, segmental duplications and deletions were studied with a view to determining the effects of ploidy on the cellular responses. Differences in colony and cell morphology as well as in the growth rates were observed between mutant and parental strains. These results suggest that cells are impaired physiologically in both contexts. We also investigated the variation in genomic expression in all the mutants. We observed that gene expression was significantly altered. The data obtained here clearly show that genes involved in energy metabolism, especially in the tricarboxylic acid cycle, are up-regulated in all these mutants. However, the genes involved in the composition of the ribosome or in RNA processing are down-regulated in diploids but up-regulated in haploids. Over-expression of genes involved in the regulation of the proteasome was found to occur only in haploid mutants. Conclusion The present comparisons between the cellular responses of strains carrying GCRs in different ploidy contexts bring to light two main findings. First, GCRs induce a general stress response in all studied mutants, regardless of their ploidy. Secondly, the ploidy context plays a crucial role in maintaining the stoichiometric balance

  2. Palindrome-mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements

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    Hidehito Inagaki

    2016-07-01

    Full Text Available Palindromic DNA sequences, which can form secondary structures, are widely distributed in the human genome. Although the nature of the secondary structure—single-stranded hairpin or double-stranded cruciform—has been extensively investigated in vitro, the existence of such unusual non-B DNA in vivo remains controversial. Here, we review palindrome-mediated gross chromosomal rearrangements possibly induced by non-B DNA in humans. Recent advances in next-generation sequencing have not yet overcome the difficulty of palindromic sequence analysis. However, a dozen palindromic AT-rich repeat (PATRR sequences have been identified at the breakpoints of recurrent or non-recurrent chromosomal translocations in humans. The breakages always occur at the center of the palindrome. Analyses of polymorphisms within the palindromes indicate that the symmetry and length of the palindrome affect the frequency of the de novo occurrence of these palindrome-mediated translocations, suggesting the involvement of non-B DNA. Indeed, experiments using a plasmid-based model system showed that the formation of non-B DNA is likely the key to palindrome-mediated genomic rearrangements. Some evidence implies a new mechanism that cruciform DNAs may come close together first in nucleus and illegitimately joined. Analysis of PATRR-mediated translocations in humans will provide further understanding of gross chromosomal rearrangements in many organisms.

  3. Altered chromosome 6 in immortal human fibroblasts.

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    Hubbard-Smith, K; Patsalis, P; Pardinas, J R; Jha, K K; Henderson, A S; Ozer, H L

    1992-05-01

    Human diploid fibroblasts have a limited life span in vitro, and spontaneous immortalization is an extremely rare event. We have used transformation of human diploid fibroblasts by an origin-defective simian virus 40 genome to develop series of genetically matched immortal cell lines to analyze immortalization. Comparison of a preimmortal transformant (SVtsA/HF-A) with its uncloned and cloned immortalized derivatives (AR5 and HAL) has failed to reveal any major alteration involving the simian virus 40 genome. Karyotypic analysis, however, demonstrated that all of the immortal cell lines in this series have alterations of chromosome 6 involving loss of the portion distal to 6q21. The karyotypic analysis was corroborated by DNA analyses. Southern analysis demonstrated that only one copy of three proto-oncogene loci (ros1, c-myb, and mas1) on 6q was retained in immortal cells. Polymerase chain reaction analysis of the microsatellite polymorphism at 6q22 (D6S87) showed loss of heterozygosity. In addition, elevated expression of c-myb (6q22-23) was observed. We hypothesize that the region at and/or distal to 6q21 plays a role in immortalization, consistent with the presence of a growth suppressor gene.

  4. Altered chromosome 6 in immortal human fibroblasts

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    Hubbard-Smith, K.; Pardinas, J.R.; Jha, K.K.; Ozer, H.L. (New Jersey Medical School, Newark, NJ (United States)); Patsalis, P.; Henderson, A.S. (City Univ. of New York, NY (United States))

    1992-05-01

    Human diploid fibroblasts have a limited life span in vitro, and spontaneous immortalization is an extremely rare event. We have used transformation of human diploid fibroblasts by an origin-defective simian virus 40 genome to develop series of genetically matched immortal cell lines to analyze immortalization. Comparison of a preimmortal transformant (SVtsA/HF-A) with its uncloned and cloned immortalized derivatives (AR5 and HAL) has failed to reveal any major alteration involving the simian virus 40 genome. Karyotypic analysis, however, demonstrated that all of the immortal cell lines in this series have alterations of chromosome 6 involving loss of the portion distal to 6q21. The karyotypic analysis was corroborated by DNA analyses. Southern analysis demonstrated that only one copy of three proto-oncogene loci (ros1, c-myb, and mas1) on 6q was retained in immortal cells. Polymerase chain reaction analysis of the microsatellite polymorphism at 6q22 (D6S87) showed loss of heterozygosity. In addition, elevated expression of c-myb (6q22-23) was observed. We hypothesize that the region at and/or distal to 6q21 plays a role in immortalization, consistent with the presence of a growth suppressor gene. 66 refs., 6 figs., 2 tabs.

  5. Generation of Gross Chromosomal Rearrangements by a Single Engineered DNA Double Strand Break

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    Qiu, Zhijun; Zhang, Zhenhua; Roschke, Anna; Varga, Tamas; Aplan, Peter D.

    2017-01-01

    Gross chromosomal rearrangements (GCRs), including translocations, inversions amplifications, and deletions, can be causal events leading to malignant transformation. GCRs are thought to be triggered by DNA double strand breaks (DSBs), which in turn can be spontaneous or induced by external agents (eg. cytotoxic chemotherapy, ionizing radiation). It has been shown that induction of DNA DSBs at two defined loci can produce stable balanced chromosomal translocations, however, a single engineered DNA DSB could not. Herein, we report that although a single engineered DNA DSB in H2AX “knockdown” cells did not generate GCRs, repair of a single engineered DNA DSB in fibroblasts that had ablated H2ax did produce clonal, stable GCRs, including balanced translocations and megabase-pair inversions. Upon correction of the H2ax deficiency, cells no longer generated GCRs following a single engineered DNA DSB. These findings demonstrate that clonal, stable GCRs can be produced by a single engineered DNA DSB in H2ax knockout cells, and that the production of these GCRs is ameliorated by H2ax expression. PMID:28225067

  6. NPM1 deletion is associated with gross chromosomal rearrangements in leukemia.

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    Roberta La Starza

    Full Text Available BACKGROUND: NPM1 gene at chromosome 5q35 is involved in recurrent translocations in leukemia and lymphoma. It also undergoes mutations in 60% of adult acute myeloid leukemia (AML cases with normal karyotype. The incidence and significance of NPM1 deletion in human leukemia have not been elucidated. METHODOLOGY AND PRINCIPAL FINDINGS: Bone marrow samples from 145 patients with myelodysplastic syndromes (MDS and AML were included in this study. Cytogenetically 43 cases had isolated 5q-, 84 cases had 5q- plus other changes and 18 cases had complex karyotype without 5q deletion. FISH and direct sequencing investigated the NPM1 gene. NPM1 deletion was an uncommon event in the "5q- syndrome" but occurred in over 40% of cases with high risk MDS/AML with complex karyotypes and 5q loss. It originated from large 5q chromosome deletions. Simultaneous exon 12 mutations were never found. NPM1 gene status was related to the pattern of complex cytogenetic aberrations. NPM1 haploinsufficiency was significantly associated with monosomies (p<0.001 and gross chromosomal rearrangements, i.e., markers, rings, and double minutes (p<0.001, while NPM1 disomy was associated with structural changes (p=0.013. Interestingly, in complex karyotypes with 5q- TP53 deletion and/or mutations are not specifically associated with NPM1 deletion. CONCLUSIONS AND SIGNIFICANCE: NPM1/5q35 deletion is a consistent event in MDS/AML with a 5q-/-5 in complex karyotypes. NPM1 deletion and NPM1 exon 12 mutations appear to be mutually exclusive and are associated with two distinct cytogenetic subsets of MDS and AML.

  7. Human-chromosome alterations induced by argon laser treatment

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    Simi, S.; Colella, C. (Consiglio Nazionale delle Ricerche, Pisa (Italy). Lab. di Mutagenesi e Differenziamento); Agati, G.; Fusi, F. (Florence Univ. (Italy). Ist. di Farmacologia); Corsi, M.F.; Pratesi, R. (Consiglio Nazionale delle Ricerche, Florence (Italy). Lab. di Elettronica Quantistica); Tocco, G.A. (Naples Univ. (Italy). Ist. di Istologia ed Embrilogia)

    1984-07-01

    The possible occurrence of genetic damage arising from exposure of human cells to visible laser light has been evaluated in PHA-stimulated human lymphocytes. Aneuploidy and chromosome aberrations have been observed after exposure to an argon laser. These findings appear of special interest in view of the possible role of these chromosome alterations in carcinogenesis.

  8. Promoter Methylation Precedes Chromosomal Alterations in Colorectal Cancer Development

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    Sarah Derks

    2006-01-01

    Full Text Available Background: Colorectal cancers are characterized by genetic and epigenetic alterations. This study aimed to explore the timing of promoter methylation and relationship with mutations and chromosomal alterations in colorectal carcinogenesis. Methods: In a series of 47 nonprogressed adenomas, 41 progressed adenomas (malignant polyps, 38 colorectal carcinomas and 18 paired normal tissues, we evaluated promoter methylation status of hMLH1, O6MGMT, APC, p14ARF, p16INK4A, RASSF1A, GATA-4, GATA-5, and CHFR using methylation-specific PCR. Mutation status of TP53, APC and KRAS were studied by p53 immunohistochemistry and sequencing of the APC and KRAS mutation cluster regions. Chromosomal alterations were evaluated by comparative genomic hybridization. Results: Our data demonstrate that nonprogressed adenomas, progressed adenomas and carcinomas show similar frequencies of promoter methylation for the majority of the genes. Normal tissues showed significantly lower frequencies of promoter methylation of APC, p16INK4A, GATA-4, and GATA-5 (P-values: 0.02, 0.02, 1.1×10−5 and 0.008 respectively. P53 immunopositivity and chromosomal abnormalities occur predominantly in carcinomas (P values: 1.1×10−5 and 4.1×10−10. Conclusions: Since promoter methylation was already present in nonprogressed adenomas without chromosomal alterations, we conclude that promoter methylation can be regarded as an early event preceding TP53 mutation and chromosomal abnormalities in colorectal cancer development.

  9. A highly specific coding system for structural chromosomal alterations.

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    Martínez-Frías, M L; Martínez-Fernández, M L

    2013-04-01

    The Spanish Collaborative Study of Congenital Malformations (ECEMC, from the name in Spanish) has developed a very simple and highly specific coding system for structural chromosomal alterations. Such a coding system would be of value at present due to the dramatic increase in the diagnosis of submicroscopic chromosomal deletions and duplications through molecular techniques. In summary, our new coding system allows the characterization of: (a) the type of structural anomaly; (b) the chromosome affected; (c) if the alteration affects the short or/and the long arm, and (d) if it is a non-pure dicentric, a non-pure isochromosome, or if it affects several chromosomes. We show the distribution of 276 newborn patients with these types of chromosomal alterations using their corresponding codes according to our system. We consider that our approach may be useful not only for other registries, but also for laboratories performing these studies to store their results on case series. Therefore, the aim of this article is to describe this coding system and to offer the opportunity for this coding to be applied by others. Moreover, as this is a SYSTEM, rather than a fixed code, it can be implemented with the necessary modifications to include the specific objectives of each program. Copyright © 2013 Wiley Periodicals, Inc.

  10. CAFE: an R package for the detection of gross chromosomal abnormalities from gene expression microarray data.

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    Bollen, Sander; Leddin, Mathias; Andrade-Navarro, Miguel A; Mah, Nancy

    2014-05-15

    The current methods available to detect chromosomal abnormalities from DNA microarray expression data are cumbersome and inflexible. CAFE has been developed to alleviate these issues. It is implemented as an R package that analyzes Affymetrix *.CEL files and comes with flexible plotting functions, easing visualization of chromosomal abnormalities. CAFE is available from https://bitbucket.org/cob87icW6z/cafe/ as both source and compiled packages for Linux and Windows. It is released under the GPL version 3 license. CAFE will also be freely available from Bioconductor. sander.h.bollen@gmail.com or nancy.mah@mdc-berlin.de Supplementary data are available at Bioinformatics online.

  11. A screen for suppressors of gross chromosomal rearrangements identifies a conserved role for PLP in preventing DNA lesions.

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    Pamela Kanellis

    2007-08-01

    Full Text Available Genome instability is a hallmark of cancer cells. One class of genome aberrations prevalent in tumor cells is termed gross chromosomal rearrangements (GCRs. GCRs comprise chromosome translocations, amplifications, inversions, deletion of whole chromosome arms, and interstitial deletions. Here, we report the results of a genome-wide screen in Saccharomyces cerevisiae aimed at identifying novel suppressors of GCR formation. The most potent novel GCR suppressor identified is BUD16, the gene coding for yeast pyridoxal kinase (Pdxk, a key enzyme in the metabolism of pyridoxal 5' phosphate (PLP, the biologically active form of vitamin B6. We show that Pdxk potently suppresses GCR events by curtailing the appearance of DNA lesions during the cell cycle. We also show that pharmacological inhibition of Pdxk in human cells leads to the production of DSBs and activation of the DNA damage checkpoint. Finally, our evidence suggests that PLP deficiency threatens genome integrity, most likely via its role in dTMP biosynthesis, as Pdxk-deficient cells accumulate uracil in their nuclear DNA and are sensitive to inhibition of ribonucleotide reductase. Since Pdxk links diet to genome stability, our work supports the hypothesis that dietary micronutrients reduce cancer risk by curtailing the accumulation of DNA damage and suggests that micronutrient depletion could be part of a defense mechanism against hyperproliferation.

  12. Analysis of chromosomal alterations induced by asbestos and ceramic fibers.

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    Dopp, E; Schiffmann, D

    1998-08-01

    increase of chromosomal breakage in the pericentric heterochromatin regions of chromosomes 1 and 9 in AFC after exposure to asbestos and ceramic fibers. The number of hyperdiploid cells was also significantly increased. These results show that asbestos as well as ceramic fibers are inducers of structural and numerical chromosomal alterations.

  13. Alterations at chromosome 17 loci in peripheral nerve sheath tumors

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    Lothe, R.A.; Slettan, A.; Saeter, G. [Norwegian Radium Hospital, Oslo (Norway)] [and others

    1995-01-01

    Little is known about the molecular genetic changes in malignant peripheral nerve sheath tumors (MPNST). Inactivation of the TP53 gene in l7p has been reported in a few tumors. The MPNST is one of the manifestations of neurofibromatosis 1 (NF1), suggesting that the NF1 gene in 17q might be important. We present a study of 15 neurofibromas and MPNST from nine individuals. Seven patients had NF1 and six of these developed MPNST. Genetic alterations at nine polymorphic loci on chromosome 17 were examined. Allelic imbalance was detected only in the malignant tumors from NF1 patients (4/6). Complete loss of heterozygosity of 17q loci was found in three of these tumors, all including loci within the NF1 gene. Two of the malignant tumors also showed deletions on 17p. No mutations were detected within exon 5-8 of the TP53 in any of the MPNST, and none of them were TP53 protein-positive using immunostaining with mono- and polyclonal antibodies against TP53. The numbers of chromosome 17 present in each tumor were evaluated by use of fluorescence in situ hybridization (FISH) on interphase nuclei with a centromere-specific probe. A deviation from the disomic status of chromosome 17 was observed in two of the MPNST from NF1 patients. These results support the hypothesis of inactivation of both NF1 gene alleles during development of MPNST in patients with NF1. In contrast to other reports, we did not find evidence for a homozygous mutated condition of the TP53 gene in the same tumors. Finally, FISH analysis was in accordance with the DNA analysis in the deduction of the numbers of chromosome 17 in these tumors. 29 refs., 3 figs., 2 tabs.

  14. Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays

    OpenAIRE

    2008-01-01

    Chromosomal DNA is characterized by variation between individuals at the level of entire chromosomes (e.g., aneuploidy in which the chromosome copy number is altered), segmental changes (including insertions, deletions, inversions, and translocations), and changes to small genomic regions (including single nucleotide polymorphisms). A variety of alterations that occur in chromosomal DNA, many of which can be detected using high density single nucleotide polymorphism (SNP)...

  15. Chromosome Structural Alteration an Unusual Abnormality Characterizing Human Neoplasia

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    Abolfazl Movafagh

    2016-04-01

    Full Text Available Background and Aim: Ring chromosomes are rare cytogenetic abnormalities that occur in less than 10% of hematopoietic malignancies. They are rare in blood disorder. The present review has focused on the ring chromosome associated with oncology malignancies. Materials and Methods: By reviewing the web-based search for all English scientific peer review articles published, was initiated using Medline/PubMed, Mitelman database (http://cgap.nci.nih.gov/Chromosomes/Mitelman, and other pertinent references on websites about ring chromosomes in Oncology. The software program as End Note was used to handle the proper references for instruction to author. Karyotype descriptions were cited according to ISCN.Conclusion: Ring chromosomes are rare chromosomal aberrations, almost many times are of de novo origin, presenting a different phenotype regarding the loss of genetic material. The karyotype represents the main analysis for detection of ring chromosomes, but other molecular technics are necessary for complete characterization. The information of this review article adds to the spectrum of both morphology and genetic rearrangements in the field of oncology malignancies.

  16. Alteration of chromosome behavior and synchronization of parental chromosomes after successive generations in Brassica napus x Orychophragmus violaceus hybrids.

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    Zhao, Zhigang; Ma, Ni; Li, Zaiyun

    2007-02-01

    In an earlier study, the progenies of intergeneric hybrids Brassica napus (2n = 38) x Orychophragmus violaceus (2n = 24) were investigated in successive generations (F1-F4) for the cytological phenomenon of parental genome separation during mitotic and meiotic division. In the present study, inbred lines (F5-F8) derived from 1 such hybrid were characterized for morphology, chromosome pairing behaviour, and genome composition. One F5 plant (2n = 31) with slightly yellow petals and 12:19 and 15:16 segregation ratios in its pollen mother cells (PMCs) produced F6 plants with distinct morphological characteristics and wide variations in fertility and chromosome numbers (2n = 25-38). F7 and F8 lines with distinctive morphology and wide ranges in chromsome numbers were established. In PMCs of F7 plants from 4 F6 plants, 0-12 labelled chromosomes from O. violaceus, which predominantly appeared as bivalents, were identified by genomic in situ hybridization. They behaved synchronously with B. napus chromosomes during meiotic division. The results provide molecular cytogenetic evidence of the inclusion of O. violaceus chromosomes in the original hybrids and the cytology in the hybrids documented earlier. They also show that chromosome behaviour was altered and the parental chromosomes became synchronized after successive generations.

  17. A Regulatory Switch Alters Chromosome Motions at the Metaphase-to-Anaphase Transition

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    Kuan-Chung Su

    2016-11-01

    Full Text Available To achieve chromosome segregation during mitosis, sister chromatids must undergo a dramatic change in their behavior to switch from balanced oscillations at the metaphase plate to directed poleward motion during anaphase. However, the factors that alter chromosome behavior at the metaphase-to-anaphase transition remain incompletely understood. Here, we perform time-lapse imaging to analyze anaphase chromosome dynamics in human cells. Using multiple directed biochemical, genetic, and physical perturbations, our results demonstrate that differences in the global phosphorylation states between metaphase and anaphase are the major determinant of chromosome motion dynamics. Indeed, causing a mitotic phosphorylation state to persist into anaphase produces dramatic metaphase-like oscillations. These induced oscillations depend on both kinetochore-derived and polar ejection forces that oppose poleward motion. Thus, our analysis of anaphase chromosome motion reveals that dephosphorylation of multiple mitotic substrates is required to suppress metaphase chromosome oscillatory motions and achieve directed poleward motion for successful chromosome segregation.

  18. Disruption of a Conserved CAP-D3 Threonine Alters Condensin Loading on Mitotic Chromosomes Leading to Chromosome Hypercondensation*

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    Bakhrebah, Muhammed; Zhang, Tao; Mann, Jeff R.; Kalitsis, Paul; Hudson, Damien F.

    2015-01-01

    The condensin complex plays a key role in organizing mitotic chromosomes. In vertebrates, there are two condensin complexes that have independent and cooperative roles in folding mitotic chromosomes. In this study, we dissect the role of a putative Cdk1 site on the condensin II subunit CAP-D3 in chicken DT40 cells. This conserved site has been shown to activate condensin II during prophase in human cells, and facilitate further phosphorylation by polo-like kinase I. We examined the functional significance of this phosphorylation mark by mutating the orthologous site of CAP-D3 (CAP-D3T1403A) in chicken DT40 cells. We show that this mutation is a gain of function mutant in chicken cells; it disrupts prophase, results in a dramatic shortening of the mitotic chromosome axis, and leads to abnormal INCENP localization. Our results imply phosphorylation of CAP-D3 acts to limit condensin II binding onto mitotic chromosomes. We present the first in vivo example that alters the ratio of condensin I:II on mitotic chromosomes. Our results demonstrate this ratio is a critical determinant in shaping mitotic chromosomes. PMID:25605712

  19. Disruption of a conserved CAP-D3 threonine alters condensin loading on mitotic chromosomes leading to chromosome hypercondensation.

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    Bakhrebah, Muhammed; Zhang, Tao; Mann, Jeff R; Kalitsis, Paul; Hudson, Damien F

    2015-03-06

    The condensin complex plays a key role in organizing mitotic chromosomes. In vertebrates, there are two condensin complexes that have independent and cooperative roles in folding mitotic chromosomes. In this study, we dissect the role of a putative Cdk1 site on the condensin II subunit CAP-D3 in chicken DT40 cells. This conserved site has been shown to activate condensin II during prophase in human cells, and facilitate further phosphorylation by polo-like kinase I. We examined the functional significance of this phosphorylation mark by mutating the orthologous site of CAP-D3 (CAP-D3(T1403A)) in chicken DT40 cells. We show that this mutation is a gain of function mutant in chicken cells; it disrupts prophase, results in a dramatic shortening of the mitotic chromosome axis, and leads to abnormal INCENP localization. Our results imply phosphorylation of CAP-D3 acts to limit condensin II binding onto mitotic chromosomes. We present the first in vivo example that alters the ratio of condensin I:II on mitotic chromosomes. Our results demonstrate this ratio is a critical determinant in shaping mitotic chromosomes.

  20. Alterations and abnormal mitosis of wheat chromosomes induced by wheat-rye monosomic addition lines.

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    Shulan Fu

    Full Text Available BACKGROUND: Wheat-rye addition lines are an old topic. However, the alterations and abnormal mitotic behaviours of wheat chromosomes caused by wheat-rye monosomic addition lines are seldom reported. METHODOLOGY/PRINCIPAL FINDINGS: Octoploid triticale was derived from common wheat T. aestivum L. 'Mianyang11'×rye S. cereale L. 'Kustro' and some progeny were obtained by the controlled backcrossing of triticale with 'Mianyang11' followed by self-fertilization. Genomic in situ hybridization (GISH using rye genomic DNA and fluorescence in situ hybridization (FISH using repetitive sequences pAs1 and pSc119.2 as probes were used to analyze the mitotic chromosomes of these progeny. Strong pSc119.2 FISH signals could be observed at the telomeric regions of 3DS arms in 'Mianyang11'. However, the pSc119.2 FISH signals were disappeared from the selfed progeny of 4R monosomic addition line and the changed 3D chromosomes could be transmitted to next generation stably. In one of the selfed progeny of 7R monosomic addition line, one 2D chromosome was broken and three 4A chromosomes were observed. In the selfed progeny of 6R monosomic addition line, structural variation and abnormal mitotic behaviour of 3D chromosome were detected. Additionally, 1A and 4B chromosomes were eliminated from some of the progeny of 6R monosomic addition line. CONCLUSIONS/SIGNIFICANCE: These results indicated that single rye chromosome added to wheat might cause alterations and abnormal mitotic behaviours of wheat chromosomes and it is possible that the stress caused by single alien chromosome might be one of the factors that induced karyotype alteration of wheat.

  1. High-order chromatin architecture shapes the landscape of chromosomal alterations in cancer

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    Fudenberg, Geoffrey; Getz, Gad; Meyerson, Matthew; Mirny, Leonid

    2012-02-01

    The rapid growth of cancer genome structural information provides an opportunity for a better understanding of the mutational mechanisms of genomic alterations in cancer and the forces of selection that act upon them. Here we test the evidence for two major forces, spatial chromosome structure and purifying (or negative) selection, that shape the landscape of somatic copy-number alterations (SCNAs) in cancer (Beroukhim et al, 2010). Using a maximum likelihood framework we compare SCNA maps and three-dimensional genome architecture as determined by genome-wide chromosome conformation capture (HiC) and described by the proposed fractal-globule (FG) model (Lieberman-Aiden and Van Berkum et al, 2009). This analysis provides evidence that the distribution of chromosomal alterations in cancer is spatially related to three-dimensional genomic architecture and additionally suggests that purifying selection as well as positive selection shapes the landscape of SCNAs during somatic evolution of cancer cells.

  2. Structural Chromosomal Alterations Induced by Dietary Bioflavonoids in Fanconi Anemia Lymphocytes

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    Gonzalo Guevara

    2007-06-01

    Full Text Available IntroductionFanconi anemia is an autosomal recessive diseasecharacterized by a variety of congenital abnormalities,progressive bone marrow failure,increased chromosomal instability and higherrisk to acute myeloid leukemia, solid tumors. Thisentity can be considered an appropriate biologicalmodel to analyze natural substances with possiblegenotoxic effect. The aims of this study wereto describe and quantify structural chromosomalaberrations induced by 5 flavones, 2 isoflavonesand a topoisomerase II chemotherapeutic inhibitorin Fanconi anemia lymphocytes in order todetermine chromosomal numbers changes and/or type of chromosomal damage.Materials and methodsChromosomes stimulated by phytohaemagglutininM, from Fanconi anemia lymphocytes,were analysed by conventional cytogenetic culture.For each chemical substance and controls,one hundred metaphases were evaluated. Chromosomalalterations were documented by photographyand imaging analyzer. To statisticalanalysis was used chi square test to identify significantdifferences between frequencies of chromosomaldamage of basal and exposed cellcultured a P value less than 0.05.ResultsThere were 431 chromosomal alterations in1000 metaphases analysed; genistein was themore genotoxic bioflavonoid, followed in descendentorder by genistin, fisetin, kaempferol,quercetin, baicalein and miricetin. Chromosomalaberrations observed were: chromatidbreaks, chromosomal breaks, cromatid andchromosomal gaps, quadriratials exchanges,dicentrics chromosome and complex rearrangements.ConclusionBioflavonoids as genistein, genistin and fisetin,which are commonly present in the human diet,showed statistical significance in the number ofchromosomal aberrations in Fanconi anemialymphocytes, regarding the basal damage.

  3. Chromosome

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    Chromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA ... is the building block of the human body. Chromosomes also contain proteins that help DNA exist in ...

  4. A GFP-Tagged Gross Deletion on Chromosome 1 Causes Malignant Peripheral Nerve Sheath Tumors and Carcinomas in Zebrafish.

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    Matteo Astone

    Full Text Available Malignant peripheral nerve sheath tumors (MPNSTs are highly aggressive soft-tissue sarcomas, characterized by complex karyotypes. The molecular bases of such malignancy are poorly understood and efficient targeted molecular therapies are currently lacking. Here we describe a novel zebrafish model of MPNSTs, represented by the transgenic mutant line Tg(-8.5nkx2.2a:GFPia2. ia2 homozygous animals displayed embryonic lethality by 72 hpf, while the heterozygotes develop visible tumor masses with high frequency in adulthood. Histological and immunohistochemical examination revealed aggressive tumors with either mesenchymal or epithelial features. The former (54% of the cases arose either in the abdominal cavity, or as intrathecal/intraspinal lesions and is composed of cytokeratin-negative spindle cells with fascicular/storiform growth pattern consistent with zebrafish MPNSTs. The second histotype was composed by polygonal or elongated cells, immunohistochemically positive for the pan-cytokeratin AE1/AE3. The overall histologic and immunohistochemical features were consistent with a malignant epithelial neoplasm of possible gastrointestinal/pancreatic origin. With an integrated approach, based on microsatellite (VNTR and STS markers, we showed that ia2 insertion, in Tg(-8.5nkx2.2a:GFPia2 embryos, is associated with a deletion of 15.2 Mb in the telomeric portion of chromosome 1. Interestingly, among ia2 deleted genes we identified the presence of the 40S ribosomal protein S6 gene that may be one of the possible drivers for the MPNSTs in ia2 mutants. Thanks to the peculiar features of zebrafish as animal model of human cancer (cellular and genomic similarity, transparency and prolificacy and the GFP tag, the Tg(-8.5nkx2.2a:GFPia2 line provides a manageable tool to study in vivo with high frequency MPNST biology and genetics, and to identify, in concert with the existing zebrafish MPNST models, conserved relevant mechanisms in zebrafish and human cancer

  5. Altered Chromosomal Positioning, Compaction, and Gene Expression with a Lamin A/C Gene Mutation

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    Abuisneineh, Fida; Fahrenbach, John P.; Zhang, Yuan; MacLeod, Heather; Dellefave, Lisa; Pytel, Peter; Selig, Sara; Labno, Christine M.; Reddy, Karen; Singh, Harinder; McNally, Elizabeth

    2010-01-01

    Background Lamins A and C, encoded by the LMNA gene, are filamentous proteins that form the core scaffold of the nuclear lamina. Dominant LMNA gene mutations cause multiple human diseases including cardiac and skeletal myopathies. The nuclear lamina is thought to regulate gene expression by its direct interaction with chromatin. LMNA gene mutations may mediate disease by disrupting normal gene expression. Methods/Findings To investigate the hypothesis that mutant lamin A/C changes the lamina's ability to interact with chromatin, we studied gene misexpression resulting from the cardiomyopathic LMNA E161K mutation and correlated this with changes in chromosome positioning. We identified clusters of misexpressed genes and examined the nuclear positioning of two such genomic clusters, each harboring genes relevant to striated muscle disease including LMO7 and MBNL2. Both gene clusters were found to be more centrally positioned in LMNA-mutant nuclei. Additionally, these loci were less compacted. In LMNA mutant heart and fibroblasts, we found that chromosome 13 had a disproportionately high fraction of misexpressed genes. Using three-dimensional fluorescence in situ hybridization we found that the entire territory of chromosome 13 was displaced towards the center of the nucleus in LMNA mutant fibroblasts. Additional cardiomyopathic LMNA gene mutations were also shown to have abnormal positioning of chromosome 13, although in the opposite direction. Conclusions These data support a model in which LMNA mutations perturb the intranuclear positioning and compaction of chromosomal domains and provide a mechanism by which gene expression may be altered. PMID:21179469

  6. Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.

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    Stephanie K Mewborn

    Full Text Available BACKGROUND: Lamins A and C, encoded by the LMNA gene, are filamentous proteins that form the core scaffold of the nuclear lamina. Dominant LMNA gene mutations cause multiple human diseases including cardiac and skeletal myopathies. The nuclear lamina is thought to regulate gene expression by its direct interaction with chromatin. LMNA gene mutations may mediate disease by disrupting normal gene expression. METHODS/FINDINGS: To investigate the hypothesis that mutant lamin A/C changes the lamina's ability to interact with chromatin, we studied gene misexpression resulting from the cardiomyopathic LMNA E161K mutation and correlated this with changes in chromosome positioning. We identified clusters of misexpressed genes and examined the nuclear positioning of two such genomic clusters, each harboring genes relevant to striated muscle disease including LMO7 and MBNL2. Both gene clusters were found to be more centrally positioned in LMNA-mutant nuclei. Additionally, these loci were less compacted. In LMNA mutant heart and fibroblasts, we found that chromosome 13 had a disproportionately high fraction of misexpressed genes. Using three-dimensional fluorescence in situ hybridization we found that the entire territory of chromosome 13 was displaced towards the center of the nucleus in LMNA mutant fibroblasts. Additional cardiomyopathic LMNA gene mutations were also shown to have abnormal positioning of chromosome 13, although in the opposite direction. CONCLUSIONS: These data support a model in which LMNA mutations perturb the intranuclear positioning and compaction of chromosomal domains and provide a mechanism by which gene expression may be altered.

  7. Prognostic value of DNA alterations on chromosome 17p13.2 for intrahepatic cholangiocarcinoma

    Institute of Scientific and Technical Information of China (English)

    Ubol Chuensumran; Sopit Wongkham; Chawalit Pairojkul; Siri Chauin; Songsak Petmitr

    2007-01-01

    AIM: To characterize and evaluate DNA alterations among intrahepatic cholangiocarcinoma (ICC) patients.METHODS: DNA from tumor and corresponding normal tissues of 52 patients was amplified with 33 arbitrary primers. The DNA fragment that alters most frequently in ICC was cloned, sequenced, and identified by comparison with known nucleotide sequences in the genome database (www.ncbi.nlm.nih.gov). The DNA copy numbers of the allelic alterations in cholangiocarcinoma were determined by quantitative real-time PCR and interpreted as allelic loss or DNA amplification by comparison with the reference gene. Associations between allelic imbalance and clinicopathological parameters of ICC patients were evaluated by x2-test.The Kaplan-Meier method was used to analyze survival rates.RESULTS: From 33 primers, an altered DNA fragment (518 bp) amplified from BC17 random primer was found frequently in the tumors analyzed and mapped to chromosome 17p13.2. Sixteen of 52 (31%) cases showed DNA amplification, while 7 (13%) showed allelic loss. Interestingly, DNA amplification on chromosome 17p13.2 was associated with a good prognosis, median survival time (wk) of amp vs no amp was 44.14 vs 24.14,P = 0.002; whereas allelic loss of this DNA sequence corresponded with a poor prognosis, median survival time (wk) of loss vs no loss was 18.00 vs 28.71, P =0.019). Moreover, Kaplan-Meier curves comparing the DNA alterations with survival depicted highly significant separation that the median survival time equal to DNA amplification, allelic loss, and normal was 44.14 wk,18.00 wk, and 24.29 wk, respectively (P = 0.005).CONCLUSION: Alterations in the DNA sequence on chromosome 17p13.2 may be involved in cholangiocarcinogenesis, and could be used as a prognostic marker in the treatment of ICC patients.

  8. Prognostic values of chromosome 18q microsatellite alterations in stage Ⅱ colonic carcinoma

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    AIM: To investigate the prognostic value of chromosome 18q microsatellite alterations (MA) in stage Ⅱ colon cancer. METHODS: One hundred and six patients with sporadic stage Ⅱ colon cancer were enrolled in this study. DNA was extracted from formalin-fixed, paraffin-embedded tumor and adjacent normal mucosal tissue samples. MA, including loss of heterozygosity (LOH) and microsatellite instability (MSI), was analyzed by polymerase chain reaction, polyacrylamide gel-electrophoresis and DNA sequencing at 5 micr...

  9. Gyramides prevent bacterial growth by inhibiting DNA gyrase and altering chromosome topology.

    Science.gov (United States)

    Rajendram, Manohary; Hurley, Katherine A; Foss, Marie H; Thornton, Kelsey M; Moore, Jared T; Shaw, Jared T; Weibel, Douglas B

    2014-06-20

    Antibiotics targeting DNA gyrase have been a clinical success story for the past half-century, and the emergence of bacterial resistance has fueled the search for new gyrase inhibitors. In this paper we demonstrate that a new class of gyrase inhibitors, the gyramides, are bacteriostatic agents that competitively inhibit the ATPase activity of Escherichia coli gyrase and produce supercoiled DNA in vivo. E. coli cells treated with gyramide A have abnormally localized, condensed chromosomes that blocks DNA replication and interrupts chromosome segregation. The resulting alterations in DNA topology inhibit cell division through a mechanism that involves the SOS pathway. Importantly, gyramide A is a specific inhibitor of gyrase and does not inhibit the closely related E. coli enzyme topoisomerase IV. E. coli mutants with reduced susceptibility to gyramide A do not display cross-resistance to ciprofloxacin and novobiocin. The results demonstrate that the gyramides prevent bacterial growth by a mechanism in which the topological state of chromosomes is altered and halts DNA replication and segregation. The specificity and activity of the gyramides for inhibiting gyrase makes these compounds important chemical tools for studying the mechanism of gyrase and the connection between DNA topology and bacterial cell division.

  10. Chromosomal alterations associated with the transition from in situ to invasive breast cancer.

    Science.gov (United States)

    Ellsworth, Rachel E; Vertrees, Amy; Love, Brad; Hooke, Jeffrey A; Ellsworth, Darrell L; Shriver, Craig D

    2008-09-01

    Ductal carcinoma in situ (DCIS) is a preinvasive lesion of the breast with an inherent but nonobligatory tendency for progression to invasive breast cancer. Although the transition from in situ to invasive disease is critical to the development of breast cancer, molecular and biological changes responsible for this transition are not well characterized. Chromosomal alterations at 26 regions were assayed in 66 DCIS lesions and 111 invasive ductal carcinomas. Levels and patterns of allelic imbalance (AI) were compared between grade 1 DCIS and well-differentiated breast carcinomas, and between grade 3 DCIS and poorly differentiated invasive breast carcinomas, using Fisher's exact and Student's t-tests. Levels of AI were significantly lower (P .01) in grade 1 DCIS (11.9%) compared to well-differentiated carcinomas (19.2%), but were not significantly different between grade 3 DCIS and poorly differentiated tumors. No significant differences were detected at any of the 26 chromosomal regions between low-grade DCIS and invasive tumors; however, AI events at chromosomes 1p36, 11q23, and 16q11-q22 could discriminate high-grade in situ from invasive disease. Lower levels of AI in low-grade in situ compared with invasive disease may reflect the protracted time to progression associated with low-grade DCIS. Increased levels of AI at chromosomes 1p36 and 11q23 in poorly differentiated carcinomas may harbor genes associated with invasiveness, while loss of chromosome 16q11-q22 may prevent the transition from in situ to invasive disease. Further characterization of these changes may provide molecular assays to identify DCIS lesions with invasive potential as well as targets for molecular therapeutics.

  11. Chromosomal alterations in pure nonneoplastic breast lesions: implications for breast cancer progression.

    Science.gov (United States)

    Ellsworth, Rachel E; Ellsworth, Darrell L; Weyandt, Jamie D; Fantacone-Campbell, Jamie L; Deyarmin, Brenda; Hooke, Jeffrey A; Shriver, Craig D

    2010-06-01

    Columnar cell lesions (CCL) and atypical ductal hyperplasia (ADH) frequently coexist and share molecular changes with in situ and invasive components, suggesting that CCL and ADH may be precursors to breast cancer. These conclusions are largely based on studies examining CCL and/or ADH from patients diagnosed with more advanced disease. We assessed allelic imbalance (AI) in pure CCL or ADH specimens to characterize molecular changes in nonneoplastic breast lesions. DNA samples were obtained from laser-microdissected pure CCL (n = 42) or ADH (n = 31). AI was assessed at 26 chromosomal regions commonly altered in breast cancer. Data were analyzed using Fisher's exact and Student's t-tests using a cutoff of P .05. The average AI frequency was 6.2% in CCL and 6.1% in ADH; approximately 33% of nonneoplastic lesions had no detectable genetic changes. Levels of AI in CCL and ADH were significantly (P .0001) lower than observed in either low- or high-grade ductal carcinoma in situ (DCIS) lesions. Genetic changes characteristic of in situ and invasive disease, especially on chromosomes 16q and 17p, were infrequent in pure nonneoplastic lesions. Pure CCL and ADH lesions demonstrate lower levels of genetic alterations than DCIS, invasive carcinomas or CCL/ADH lesions from cancerous breasts; alterations of chromosomes 16q and 17p were not detected. Pure CCL and ADH lesions are not genetically advanced, and molecular profiles do not support these lesions as obligatory precursors to more advanced disease. Molecular differences between pure and synchronous lesions support re-evaluation of current models of disease initiation, progression, and risk.

  12. X-ray induced visible alterations in the giant chromosomes of Phryne cincta (Nematocera, Diptera): relation of radiation sensitivity to pronuclear chromosome structure.

    Science.gov (United States)

    Israelewski, N

    1975-12-10

    In order to induce chromosomal rearrangements, males were exposed to x-rays and then mated to non-irradiated females. The number of each type of structural alteration was determined by examination of the polytene chromosomes of the F1 progeny. -- A comparison of the results with similar studies made on Drosophila revealed a significantly greater sensitivity in Phryne. Parallel to that an extremely high frequency of small inversions was ascertained in Phryne, and the observed ratio of inversions to translocations was the inverse of that which would be expected from purely mathematical considerations based on the lengths of the different chromosomes. These facts allow the conclusion that the paternal pronuclear chromosomes in Phryne are highly spiralized. Besides, the kinetochore-to-translocation-breakpoint distance was measured in both of the chromosomes involved in each reciprocal translocation and the differences (kinetochore-break distance differences) were registered and from them the arrangement of the chromosomes in the pronucleus of Phryne deduced. The data obtained support the assumption of an ordered, polar-field type of orientation. In Drosophila, in contrast, the comparable data showed that the pronuclear chromosomes are not spiralized and are randomly arranged (Bauer, 1939). -- These results seem to indicate that a close correlation exists between the different radiation sensitivities of Drosophila and Phryne and the different states of spiralisation and arrangements of their chromosomes in the pronucleus stage. It is hypothesized that the influence of the maternal genome on the degree of spiralization of the paternal chromosomes could account for differences in the pronuclear chromosome structure of both species.

  13. Alteration of Terminal Heterochromatin and Chromosome Rearrangements in Derivatives of Wheat-Rye Hybrids

    Institute of Scientific and Technical Information of China (English)

    Shulan Fu; Zhenling Lv; Xiang Guo; Xiangqi Zhang; Fangpu Han

    2013-01-01

    Wheat-rye addition and substitution lines and their self progenies revealed variations in telomeric heterochromatin and centromeres.Furthermore,a mitotically unstable dicentric chromosome and stable multicentric chromosomes were observed in the progeny of a Chinese Spring-Imperial rye 3R addition line.An unstable multicentric chromosome was found in the progeny of a 6R/6D substitution line.Drastic variation of terminal heterochromatin including movement and disappearance of terminal heterochromatin occurred in the progeny of wheatrye addition line 3R,and the 5RS ditelosomic addition line.Highly stable minichromosomes were observed in the progeny of a monosomic 4R addition line,a ditelosomic 5RS addition line and a 6R/6D substitution line.Minichromosomes,with and without the FISH signals for telomeric DNA (TTTAGGG)n,derived from a monosomic 4R addition line are stable and transmissible to the next generation.The results indicated that centromeres and terminal heterochromatin can be profoundly altered in wheat-rye hybrid derivatives.

  14. Chromosome segregation regulation in human zygotes : Altered mitotic histone phosphorylation dynamics underlying centromeric targeting of the chromosomal passenger complex

    NARCIS (Netherlands)

    Van De Werken, C.; Avo Santos, M.; Laven, J. S E; Eleveld, C.; Fauser, B. C J M; Lens, S. M A; Baart, E. B.

    2015-01-01

    STUDY QUESTION Are the kinase feedback loops that regulate activation and centromeric targeting of the chromosomal passenger complex (CPC), functional during mitosis in human embryos? SUMMARY ANSWER Investigation of the regulatory kinase pathways involved in centromeric CPC targeting revealed normal

  15. Chromosome segregation regulation in human zygotes : Altered mitotic histone phosphorylation dynamics underlying centromeric targeting of the chromosomal passenger complex

    NARCIS (Netherlands)

    Van De Werken, C.; Avo Santos, M.; Laven, J. S E; Eleveld, C.; Fauser, B. C J M; Lens, S. M A; Baart, E. B.

    2015-01-01

    STUDY QUESTION Are the kinase feedback loops that regulate activation and centromeric targeting of the chromosomal passenger complex (CPC), functional during mitosis in human embryos? SUMMARY ANSWER Investigation of the regulatory kinase pathways involved in centromeric CPC targeting revealed normal

  16. Therapeutic strategies in male breast cancer: clinical implications of chromosome 17 gene alterations and molecular subtypes.

    Science.gov (United States)

    Schildhaus, Hans-Ulrich; Schroeder, Lars; Merkelbach-Bruse, Sabine; Binot, Elke; Büttner, Reinhard; Kuhn, Walther; Rudlowski, Christian

    2013-12-01

    Male breast cancer (MBC) is a rare disease. To date, therapy is mainly based on studies and clinical experiences with breast cancer in women. Only little is known about molecular typing of MBC, particularly with regard to potential biological predictors for adjuvant therapy. In female breast cancer tumors with chromosome 17 centromere (CEP17) duplication, HER2 and/or Topoisomerase II alpha (Topo II-α) gene alterations have been suggested to be associated with poor prognosis and increased sensitivity to anthracycline-containing regimens. In a well characterized cohort of 96 primary invasive MBC, we studied CEP17, HER2 and Topo II-α alterations by fluorescence in-situ hybridization (FISH), and expression of hormone receptors (HR), HER2 and Ki67 by immunohistochemistry to define molecular subtypes. Tumor characteristics and follow-up data were available and correlated with molecular findings. HER2 amplification and Topo II-α amplification/deletion were exceptionally rare in MBC (6.3% and 3.1%, respectively). CEP17 polysomy were found in 9.4% of tumors. HER2, Topo II-α and CEP17 gene alterations were not correlated to patients outcome. 96.9% of our cases were HR positive. Triple negative tumors were found in only 3.1% of the cases. In nodal negative tumors luminal A subtypes were significantly associated with better overall survival. Our results provide evidence for a predominant male breast cancer phenotype, characterized by HR expression and a lack of HER2/Topo II-α alterations and CEP17 duplicates. Therefore, the impact of anthracycline sensitivity linked to HER2/Topo II-α alterations as found in female breast cancer has low clinical significance for this specific male breast cancer phenotype. Copyright © 2013 Elsevier Ltd. All rights reserved.

  17. Chromosome segregation regulation in human zygotes: altered mitotic histone phosphorylation dynamics underlying centromeric targeting of the chromosomal passenger complex.

    Science.gov (United States)

    van de Werken, C; Avo Santos, M; Laven, J S E; Eleveld, C; Fauser, B C J M; Lens, S M A; Baart, E B

    2015-10-01

    Are the kinase feedback loops that regulate activation and centromeric targeting of the chromosomal passenger complex (CPC), functional during mitosis in human embryos? Investigation of the regulatory kinase pathways involved in centromeric CPC targeting revealed normal phosphorylation dynamics of histone H2A at T120 (H2ApT120) by Bub1 kinase and subsequent recruitment of Shugoshin, but phosphorylation of histone H3 at threonine 3 (H3pT3) by Haspin failed to show the expected centromeric enrichment on metaphase chromosomes in the zygote. Human cleavage stage embryos show high levels of chromosomal instability. What causes this high error rate is unknown, as mechanisms used to ensure proper chromosome segregation in mammalian embryos are poorly described. In this study, we investigated the pathways regulating CPC targeting to the inner centromere in human embryos. We characterized the distribution of the CPC in relation to activity of its two main centromeric targeting pathways: the Bub1-H2ApT120-Sgo-CPC and Haspin-H3pT3-CPC pathways. The study was conducted between May 2012 and March 2014 on human surplus embryos resulting from in vitro fertilization treatment and donated for research. In zygotes, nuclear envelope breakdown was monitored by time-lapse imaging to allow timed incubations with specific inhibitors to arrest at prometaphase and metaphase, and to interfere with Haspin and Aurora B/C kinase activity. Functionality of the targeting pathways was assessed through characterization of histone phosphorylation dynamics by immunofluorescent analysis, combined with gene expression by RT-qPCR and immunofluorescent localization of key pathway proteins. Immunofluorescent analysis of the CPC subunit Inner Centromere Protein revealed the pool of stably bound CPC proteins was not strictly confined to the inner centromere of prometaphase chromosomes in human zygotes, as observed in later stages of preimplantation development and somatic cells. Investigation of the

  18. Gene alterations at Drosophila inversion breakpoints provide prima facie evidence for natural selection as an explanation for rapid chromosomal evolution.

    Science.gov (United States)

    Guillén, Yolanda; Ruiz, Alfredo

    2012-02-01

    Chromosomal inversions have been pervasive during the evolution of the genus Drosophila, but there is significant variation between lineages in the rate of rearrangement fixation. D. mojavensis, an ecological specialist adapted to a cactophilic niche under extreme desert conditions, is a chromosomally derived species with ten fixed inversions, five of them not present in any other species. In order to explore the causes of the rapid chromosomal evolution in D. mojavensis, we identified and characterized all breakpoints of seven inversions fixed in chromosome 2, the most dynamic one. One of the inversions presents unequivocal evidence for its generation by ectopic recombination between transposon copies and another two harbor inverted duplications of non-repetitive DNA at the two breakpoints and were likely generated by staggered single-strand breaks and repair by non-homologous end joining. Four out of 14 breakpoints lay in the intergenic region between preexisting duplicated genes, suggesting an adaptive advantage of separating previously tightly linked duplicates. Four out of 14 breakpoints are associated with transposed genes, suggesting these breakpoints are fragile regions. Finally two inversions contain novel genes at their breakpoints and another three show alterations of genes at breakpoints with potential adaptive significance. D. mojavensis chromosomal inversions were generated by multiple mechanisms, an observation that does not provide support for increased mutation rate as explanation for rapid chromosomal evolution. On the other hand, we have found a number of gene alterations at the breakpoints with putative adaptive consequences that directly point to natural selection as the cause of D. mojavensis rapid chromosomal evolution.

  19. Gene alterations at Drosophila inversion breakpoints provide prima facie evidence for natural selection as an explanation for rapid chromosomal evolution

    Directory of Open Access Journals (Sweden)

    Guillén Yolanda

    2012-02-01

    Full Text Available Abstract Background Chromosomal inversions have been pervasive during the evolution of the genus Drosophila, but there is significant variation between lineages in the rate of rearrangement fixation. D. mojavensis, an ecological specialist adapted to a cactophilic niche under extreme desert conditions, is a chromosomally derived species with ten fixed inversions, five of them not present in any other species. Results In order to explore the causes of the rapid chromosomal evolution in D. mojavensis, we identified and characterized all breakpoints of seven inversions fixed in chromosome 2, the most dynamic one. One of the inversions presents unequivocal evidence for its generation by ectopic recombination between transposon copies and another two harbor inverted duplications of non-repetitive DNA at the two breakpoints and were likely generated by staggered single-strand breaks and repair by non-homologous end joining. Four out of 14 breakpoints lay in the intergenic region between preexisting duplicated genes, suggesting an adaptive advantage of separating previously tightly linked duplicates. Four out of 14 breakpoints are associated with transposed genes, suggesting these breakpoints are fragile regions. Finally two inversions contain novel genes at their breakpoints and another three show alterations of genes at breakpoints with potential adaptive significance. Conclusions D. mojavensis chromosomal inversions were generated by multiple mechanisms, an observation that does not provide support for increased mutation rate as explanation for rapid chromosomal evolution. On the other hand, we have found a number of gene alterations at the breakpoints with putative adaptive consequences that directly point to natural selection as the cause of D. mojavensis rapid chromosomal evolution.

  20. Preliminary study about frequencies of unstable chromosome alterations induced by gamma beam and neutron-gamma mixed field

    Energy Technology Data Exchange (ETDEWEB)

    Mendes, Mariana E.; Souza, Priscilla L.G.; Brandao, Jose Odinilson de C.; Santos, Joelan A.L.; Vilela, Eudice C.; Lima, Fabiana F. [Centro Regional de Ciencias Nucleares (CRCN-NE/CNEN-PE), Recife, PE (Brazil); Calixto, Merilane S.; Santos, Neide [Universidade Federal de Pernanmbuco (CCB/UFPE), Recife, PE (Brazil). Centro de Ciencias Biologicas. Dept. de Genetica

    2011-07-01

    The estimate on approximate dose in exposed individual can be made through conventional cytogenetic analysis of dicentric, this technique has been used to support physical dosimetry. It is important to estimate the absorbed dose in case of accidents with the aim of developing an appropriate treatment and biological dosimetry can be very useful in case where the dosimetry is unavailable. Exposure to gamma and neutron radiation leads to the same biological effects such as chromosomal alterations and cancer. However, neutrons cause more genetic damage, such as mutation or more structural damage, such as chromosome alterations. The aim of research is to compare frequencies of unstable chromosome alterations induced by a gamma beam with those from neutron-gamma mixed field. Two blood samples were obtained from one healthy donor and irradiated at different sources. The first sample was exposed to mixed field neutron-gamma sources {sup 241}AmBe at the Neutron Calibration Laboratory (NCL - CRCN/NE - PE - Brazil) and the second one was exposed to {sup 137}Cs gamma rays at {sup 137}Cs Laboratory (CRCN/NE - PE - Brazil), both exposures resulting in an absorbed dose of 0.66Gy. Mitotic metaphase cells were obtained by lymphocyte culture for chromosomal analysis and slides were stained with Giemsa 5%. These preliminary results showed a similarity in associated dicentrics frequency per cell (0.041 and 0.048) after {sup 137}Cs and {sup 241}AmBe sources irradiations, respectively. However, it was not observed centric rings frequency per cell (0.0 and 0.027). This study will be continue to verify the frequencies of unstable chromosome alterations induced by only gamma beam and neutron-gamma mixed field. (author)

  1. Heritable alteration of DNA methylation induced by whole-chromosome aneuploidy in wheat.

    Science.gov (United States)

    Gao, Lihong; Diarso, Moussa; Zhang, Ai; Zhang, Huakun; Dong, Yuzhu; Liu, Lixia; Lv, Zhenling; Liu, Bao

    2016-01-01

    Aneuploidy causes changes in gene expression and phenotypes in all organisms studied. A previous study in the model plant Arabidopsis thaliana showed that aneuploidy-generated phenotypic changes can be inherited to euploid progenies and implicated an epigenetic underpinning of the heritable variations. Based on an analysis by amplified fragment length polymorphism and methylation-sensitive amplified fragment length polymorphism markers, we found that although genetic changes at the nucleotide sequence level were negligible, extensive changes in cytosine DNA methylation patterns occurred in all studied homeologous group 1 whole-chromosome aneuploid lines of common wheat (Triticum aestivum), with monosomic 1A showing the greatest amount of methylation changes. The changed methylation patterns were inherited by euploid progenies derived from the aneuploid parents. The aneuploidy-induced DNA methylation alterations and their heritability were verified at selected loci by bisulfite sequencing. Our data have provided empirical evidence supporting earlier suggestions that heritability of aneuploidy-generated, but aneuploidy-independent, phenotypic variations may have an epigenetic basis. That at least one type of aneuploidy - monosomic 1A - was able to cause significant epigenetic divergence of the aneuploid plants and their euploid progenies also lends support to recent suggestions that aneuploidy may have played an important and protracted role in polyploid genome evolution.

  2. Chromosome alterations in breast carcinomas: frequent involvement of DNA losses including chromosomes 4q and 21q.

    OpenAIRE

    Schwendel, A.; Richard, F.; Langreck, H.; Kaufmann, O.; Lage, H.; Winzer, K.J.; Petersen, I; Dietel, M

    1998-01-01

    Comparative genomic hybridization was applied to map DNA gains and losses in 39 invasive ductal breast carcinomas. Frequent abnormalities included gains on chromosomal regions 1q, 8q, 11q12-13, 16p, 19, 20q and X as well as frequent losses on 1p, 5q, 6q, 9p, 11q, 13q and 16q. Furthermore, frequent losses on 4q (20 cases) and 21q (14 cases) were found for the first time in this tumour type. High copy number amplifications were observed at 8q12-24, 11q11-13 and 20q13-ter. Highly differentiated ...

  3. Genomic profiling identifies common HPV-associated chromosomal alterations in squamous cell carcinomas of cervix and head and neck

    Directory of Open Access Journals (Sweden)

    Leemans C René

    2009-06-01

    Full Text Available Abstract Background It is well known that a persistent infection with high-risk human papillomavirus (hrHPV is causally involved in the development of squamous cell carcinomas of the uterine cervix (CxSCCs and a subset of SCCs of the head and neck (HNSCCs. The latter differ from hrHPV-negative HNSCCs at the clinical and molecular level. Methods To determine whether hrHPV-associated SCCs arising from different organs have specific chromosomal alterations in common, we compared genome-wide chromosomal profiles of 10 CxSCCs (all hrHPV-positive with 12 hrHPV-positive HNSCCs and 30 hrHPV-negative HNSCCs. Potential organ-specific alterations and alterations shared by SCCs in general were investigated as well. Results Unsupervised hierarchical clustering resulted in one mainly hrHPV-positive and one mainly hrHPV-negative cluster. Interestingly, loss at 13q and gain at 20q were frequent in HPV-positive carcinomas of both origins, but uncommon in hrHPV-negative HNSCCs, indicating that these alterations are associated with hrHPV-mediated carcinogenesis. Within the group of hrHPV-positive carcinomas, HNSCCs more frequently showed gains of multiple regions at 8q whereas CxSCCs more often showed loss at 17p. Finally, gains at 3q24-29 and losses at 11q22.3-25 were frequent (>50% in all sample groups. Conclusion In this study hrHPV-specific, organ-specific, and pan-SCC chromosomal alterations were identified. The existence of hrHPV-specific alterations in SCCs of different anatomical origin, suggests that these alterations are crucial for hrHPV-mediated carcinogenesis.

  4. Alterations of chromosome 11q13 in cervical carcinoma cell lines

    Energy Technology Data Exchange (ETDEWEB)

    Popescu, N.C.; Zimonjic, D.B. [National Institutes of Health, Bethesda, MD (United States)

    1996-02-01

    In cervical cancer, evidence for the existence of a tumor-suppressor gene on chromosome 11 has been generated from studies with somatic cell hybrids, chromosome microcell transfer, or deletion analysis of DNA markers. As suggested by somatic cell hybrids analysis, chromosome 11 harbors at least three distinctive tumor-suppressor genes, two on the short arm and one on the long arm. Loss of heterozygosity (LOH) analysis using 16 markers, 10 of which were microsatellite-based, placed the region of a putative tumor-suppressor gene to 11q22-24. Recently, 11q13 was assigned as another possible site on the basis of molecular rearrangements, deletions, and translocations, nonrandomly involving this region in four of eight cervical carcinoma cell lines. Abnormal chromosomes 11 were found in HeLa, SiHa, and Caski lines and in C33A, a human papilloma virus-negative cell line. 18 refs.

  5. Chromosome 8p alterations in sporadic andBRCA2 999del5 linked breast cancer

    National Research Council Canada - National Science Library

    Bjarnveig Ingibjörg Sigbjörnsdottir; Gisli Ragnarsson; Bjarni Agnar Agnarsson; Chen Huiping; Rosa Björk Barkardottir; Valgardur Egilsson; Sigurdur Ingvarsson

    2000-01-01

    .... In this study, we have used 11 microsatellite markers to analyse loss of heterozygosity (LOH) at chromosome 8p in 151 sporadic breast tumours and 50 tumours from subjects carrying the BRCA2 999del5 mutation...

  6. Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer

    National Research Council Canada - National Science Library

    Sigbjörnsdottir, B I; Ragnarsson, G; Agnarsson, B A; Huiping, C; Barkardottir, R B; Egilsson, V; Ingvarsson, S

    2000-01-01

    .... In this study, we have used 11 microsatellite markers to analyse loss of heterozygosity (LOH) at chromosome 8p in 151 sporadic breast tumours and 50 tumours from subjects carrying the BRCA2 999del5 mutation...

  7. Altered cohesin gene dosage affects Mammalian meiotic chromosome structure and behavior.

    Science.gov (United States)

    Murdoch, Brenda; Owen, Nichole; Stevense, Michelle; Smith, Helen; Nagaoka, So; Hassold, Terry; McKay, Michael; Xu, Huiling; Fu, Jun; Revenkova, Ekaterina; Jessberger, Rolf; Hunt, Patricia

    2013-01-01

    Based on studies in mice and humans, cohesin loss from chromosomes during the period of protracted meiotic arrest appears to play a major role in chromosome segregation errors during female meiosis. In mice, mutations in meiosis-specific cohesin genes cause meiotic disturbances and infertility. However, the more clinically relevant situation, heterozygosity for mutations in these genes, has not been evaluated. We report here evidence from the mouse that partial loss of gene function for either Smc1b or Rec8 causes perturbations in the formation of the synaptonemal complex (SC) and affects both synapsis and recombination between homologs during meiotic prophase. Importantly, these defects increase the frequency of chromosomally abnormal eggs in the adult female. These findings have important implications for humans: they suggest that women who carry mutations or variants that affect cohesin function have an elevated risk of aneuploid pregnancies and may even be at increased risk of transmitting structural chromosome abnormalities.

  8. Altered cohesin gene dosage affects Mammalian meiotic chromosome structure and behavior.

    Directory of Open Access Journals (Sweden)

    Brenda Murdoch

    Full Text Available Based on studies in mice and humans, cohesin loss from chromosomes during the period of protracted meiotic arrest appears to play a major role in chromosome segregation errors during female meiosis. In mice, mutations in meiosis-specific cohesin genes cause meiotic disturbances and infertility. However, the more clinically relevant situation, heterozygosity for mutations in these genes, has not been evaluated. We report here evidence from the mouse that partial loss of gene function for either Smc1b or Rec8 causes perturbations in the formation of the synaptonemal complex (SC and affects both synapsis and recombination between homologs during meiotic prophase. Importantly, these defects increase the frequency of chromosomally abnormal eggs in the adult female. These findings have important implications for humans: they suggest that women who carry mutations or variants that affect cohesin function have an elevated risk of aneuploid pregnancies and may even be at increased risk of transmitting structural chromosome abnormalities.

  9. Endometriosis-induced alterations in mouse metaphase II oocyte microtubules and chromosomal alignment: a possible cause of infertility.

    Science.gov (United States)

    Mansour, Gihan; Sharma, Rakesh K; Agarwal, Ashok; Falcone, Tommaso

    2010-10-01

    To examine the effect of peritoneal fluid (PF) of patients with endometriosis on the cytoskeleton of metaphase II oocytes and correlate the results with the stage of endometriosis and the duration of infertility. Prospective-controlled study. Center for reproductive medicine at a tertiary-care hospital. Women with endometriosis (n=23) and tubal ligation/reversal (n=15). Peritoneal fluid obtained from 38 women (23 with endometriosis and 15 tubal ligation/reversal) after laparoscopy. Four hundred metaphase II oocytes were used: 165 frozen metaphase II oocytes were incubated in the PF of patients with endometriosis, 135 oocytes incubated in the PF of nonendometriosis patients (control subjects) and 100 oocytes incubated in human tubal fluid (HTF) media. Spindle abnormalities (microtubule and chromosomal) were evaluated by confocal imaging. In the endometriosis group, the cytoskeleton had a higher frequency of abnormal meiotic spindle and chromosomal misalignment (score ≥3), indicating severe damage compared with the control groups. The proportions of abnormalities in microtubule and chromosome alterations in endometriosis (67.9% and 63.6%, respectively) were significantly higher than for oocytes incubated with PF of the nonendometriosis group (24.4% and 14.8%) as well as the HTF group (13% and 13%). Oocyte cytoskeleton damage positively correlated with the duration of infertility and the stage of endometriosis. Alteration of oocyte cytoskeleton might be one of the causes of poor oocyte quality in patients with endometriosis. Copyright © 2010. Published by Elsevier Inc.

  10. Deletion of DXZ4 on the human inactive X chromosome alters higher-order genome architecture.

    Science.gov (United States)

    Darrow, Emily M; Huntley, Miriam H; Dudchenko, Olga; Stamenova, Elena K; Durand, Neva C; Sun, Zhuo; Huang, Su-Chen; Sanborn, Adrian L; Machol, Ido; Shamim, Muhammad; Seberg, Andrew P; Lander, Eric S; Chadwick, Brian P; Aiden, Erez Lieberman

    2016-08-02

    During interphase, the inactive X chromosome (Xi) is largely transcriptionally silent and adopts an unusual 3D configuration known as the "Barr body." Despite the importance of X chromosome inactivation, little is known about this 3D conformation. We recently showed that in humans the Xi chromosome exhibits three structural features, two of which are not shared by other chromosomes. First, like the chromosomes of many species, Xi forms compartments. Second, Xi is partitioned into two huge intervals, called "superdomains," such that pairs of loci in the same superdomain tend to colocalize. The boundary between the superdomains lies near DXZ4, a macrosatellite repeat whose Xi allele extensively binds the protein CCCTC-binding factor. Third, Xi exhibits extremely large loops, up to 77 megabases long, called "superloops." DXZ4 lies at the anchor of several superloops. Here, we combine 3D mapping, microscopy, and genome editing to study the structure of Xi, focusing on the role of DXZ4 We show that superloops and superdomains are conserved across eutherian mammals. By analyzing ligation events involving three or more loci, we demonstrate that DXZ4 and other superloop anchors tend to colocate simultaneously. Finally, we show that deleting DXZ4 on Xi leads to the disappearance of superdomains and superloops, changes in compartmentalization patterns, and changes in the distribution of chromatin marks. Thus, DXZ4 is essential for proper Xi packaging.

  11. Influence of incorporated bromodeoxyuridine on the induction of chromosomal alterations by ionizing radiation and long-wave UV in CHO cells.

    Science.gov (United States)

    Zwanenburg, T S; van Zeeland, A A; Natarajan, A T

    1985-01-01

    Incorporation of BrdUrd into nuclear DNA sensitizes CHO cells (1) to the induction of chromosomal aberrations by X-rays and 0.5 MeV neutrons and (2) to induction of chromosomal aberrations and SCEs by lw-UV. We have attempted to establish a correlation between induced chromosomal alterations and induced single- or double-strand breaks in DNA. The data show that while DSBs correlate very well with X-ray-induced aberrations, no clear correlation could be established between lw-UV induced SSBs (including alkali-labile sites) and chromosomal alterations. In addition the effect of 3-aminobenzamide (3AB) on the induction of chromosomal aberrations and SCEs induced by lw-UV has been determined. It is shown that 3AB is without any effect when lw-UV-irradiated cells are posttreated with this inhibitor. The significance of these results is discussed.

  12. Chromosome Specific Substitution Lines of Aegilops geniculata Alter Parameters of Bread Making Quality of Wheat

    Science.gov (United States)

    Tsujimoto, Hisashi; Gupta, Raj Kumar; Kumar, Aman; Kaur, Navneet; Kumar, Rohit; Chunduri, Venkatesh; Sharma, Nand Kishor; Chawla, Meenakshi; Sharma, Saloni; Mundey, Jaspreet Kaur

    2016-01-01

    Wheat cultivars with wide introgression have strongly impacted global wheat production. Aegilops geniculata (MgUg) is an important wild relative with several useful traits that can be exploited for wheat improvement. Screening of Ae. geniculata addition lines indicated a negative effect of 1Ug and the positive effect of 1Mg chromosome on wheat dough strength. Negative effect of 1Ug is probably associated with variation in number and position of the tripeptide repeat motif in the high molecular weight glutenin (HMW-G) gene. To utilize the positive potential of 1Mg chromosome, three disomic substitution lines (DSLs) 1Mg(1A), 1Mg(1B) and 1Mg(1D) were created. These lines were characterized for morphological, cytogenetic properties and biochemical signatures using FISH, 1D-, 2D-PAGE and RP-HPLC. Contribution of wheat 1A, 1B and 1D chromosomes towards dough mixing and baking parameters, chapatti quality, Fe/Zn content and glume color were identified. Observed order of variation in the dough mixing and baking parameters {1Mg(1D) ≤wheat ≤1Mg(1B) ≤1Mg(1A)} indicated that chromosome specific introgression is desirable for best utilization of wild species’ potential. PMID:27755540

  13. Gross motor control

    Science.gov (United States)

    Gross motor control is the ability to make large, general movements (such as waving an arm or lifting a leg). ... Gross motor control is a milestone in the development of an infant. Infants develop gross motor control before they develop ...

  14. Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy

    Directory of Open Access Journals (Sweden)

    Olla Carlo

    2007-08-01

    Full Text Available Abstract Background The Down syndrome phenotype has been attributed to overexpression of chromosome 21 (Hsa21 genes. However, the expression profile of Hsa21 genes in trisomic human subjects as well as their effects on genes located on different chromosomes are largely unknown. Using oligonucleotide microarrays we compared the gene expression profiles of hearts of human fetuses with and without Hsa21 trisomy. Results Approximately half of the 15,000 genes examined (87 of the 168 genes on Hsa21 were expressed in the heart at 18–22 weeks of gestation. Hsa21 gene expression was globally upregulated 1.5 fold in trisomic samples. However, not all genes were equally dysregulated and 25 genes were not upregulated at all. Genes located on other chromosomes were also significantly dysregulated. Functional class scoring and gene set enrichment analyses of 473 genes, differentially expressed between trisomic and non-trisomic hearts, revealed downregulation of genes encoding mitochondrial enzymes and upregulation of genes encoding extracellular matrix proteins. There were no significant differences between trisomic fetuses with and without heart defects. Conclusion We conclude that dosage-dependent upregulation of Hsa21 genes causes dysregulation of the genes responsible for mitochondrial function and for the extracellular matrix organization in the fetal heart of trisomic subjects. These alterations might be harbingers of the heart defects associated with Hsa21 trisomy, which could be based on elusive mechanisms involving genetic variability, environmental factors and/or stochastic events.

  15. X Chromosome Inactivation and Breast Cancer: Epigenetic Alteration in Tumor Initiation and Progression

    Science.gov (United States)

    2007-09-01

    types of mammary tumors, but not others. For instance, X chromosomal abnormalities appear to be associated with basal-like human breast cancer (BLC...andDNA damage-repair pathways to ensure genome integrity (Deng, 2006; Venkitaraman, 2002). In addition, BRCA1 plays a role in meiotic XY inactivation...find- ing that meiotic XY silencing proceeds by a mechanism involving silencing of unsynapsed DNA (Turner et al., 2006), which is distinct from X

  16. Micro RNAs and DNA methylation are regulatory players in human cells with altered X chromosome to autosome balance

    Science.gov (United States)

    Rajpathak, Shriram N.; Deobagkar, Deepti D.

    2017-01-01

    The gene balance hypothesis predicts that an imbalance in the dosage sensitive genes affects the cascade of gene networks that may influence the fitness of individuals. The phenotypes associated with chromosomal aneuploidies demonstrate the importance of gene dosage balance. We have employed untransformed human fibroblast cells with different number of X chromosomes to assess the expression of miRNAs and autosomal genes in addition to the DNA methylation status. High throughput NGS analysis using illumina Next seq500 has detected several autosomal as well as X linked miRNAs as differentially expressed in X monosomy and trisomy cells. Two of these miRNAs (hsa-miR-125a-5p and 335-5p) are likely to be involved in regulation of the autosomal gene expression. Additionally, our data demonstrates altered expression and DNA methylation signatures of autosomal genes in X monosomy and trisomy cells. In addition to miRNAs, expression of DNMT1 which is an important epigenetic player involved in many processes including cancer, is seen to be altered. Overall, present study provides a proof for regulatory roles of micro RNAs and DNA methylation in human X aneuploidy cells opening up possible new ways for designing therapeutic strategies. PMID:28233878

  17. A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype

    DEFF Research Database (Denmark)

    Minocherhomji, Sheroy; Athalye, Arundhati S; Madon, Prochi F

    2009-01-01

    To study the association of chromosomal polymorphic variations with infertility and subfertility.......To study the association of chromosomal polymorphic variations with infertility and subfertility....

  18. Altered heart rate control in transgenic mice carrying the KCNJ6 gene of the human chromosome 21.

    Science.gov (United States)

    Lignon, Jacques M; Bichler, Zoë; Hivert, Bruno; Gannier, François E; Cosnay, Pierre; del Rio, José A; Migliore-Samour, Danièle; Malécot, Claire O

    2008-04-22

    Congenital heart defects (CHD) are common in Down syndrome (DS, trisomy 21). Recently, cardiac sympathetic-parasympathetic imbalance has also been documented in DS adults free of any CHD. The KCNJ6 gene located on human chromosome 21 encodes for the Kir3.2/GIRK2 protein subunits of G protein-regulated K(+) (K(G)) channels and could contribute to this altered cardiac regulation. To elucidate the role of its overexpression, we used homozygous transgenic (Tg(+/+)) mice carrying copies of human KCNJ6. These mice showed human Kir3.2 mRNA expression in the heart and a 2.5-fold increased translation in the atria. Phenotypic alterations were assessed by recording electrocardiogram of urethane anesthetized mice. Chronotropic responses to direct (carbachol) and indirect (methoxamine) muscarinic stimulation were enhanced in Tg(+/+) mice with respect to wild-type (WT) mice. Alternating periods of slow and fast rhythm induced by CCPA (2-chloro-N-cyclopentyl-adenosine) were amplified in Tg(+/+) mice, resulting in a reduced negative chronotropic effect. These drugs reduced the atrial P wave amplitude and area. P wave variations induced by methoxamine and CCPA were respectively increased and reduced in the Tg(+/+) mice, while PR interval and ventricular wave showed no difference between Tg(+/+) and WT. These results indicate that Tg(+/+) mice incorporating the human KCNJ6 exhibit altered Kir3.2 expression and responses to drugs that would activate K(G) channels. Moreover, these altered expression and responses are limited to sino-atrial node and atria that normally express large amounts of K(G) channels. These data suggest that KCNJ6 could play an important role in altered cardiac regulation in DS patients.

  19. Unexpected rates of chromosomal instabilities and alterations of hormone levels in Namibian uranium miners.

    Science.gov (United States)

    Zaire, R; Notter, M; Riedel, W; Thiel, E

    1997-05-01

    A common problem in determining the health consequences of radiation exposure is factoring out other carcinogenic influences. The conditions in Namibia provide a test case for distinguishing the effects of long-term low-dose exposure to uranium from the other environmental factors because of good air quality and the lack of other industries with negative health effects. Present records indicate a much higher prevalence of cancer among male workers in the open-pit uranium mine in Namibia compared with the general population. The objective of the present study was to determine whether long-term exposure to low doses of uranium increases the risk of a biological radiation damage which would lead to malignant diseases and to derive a dose-response model for these miners. To investigate this risk, we measured uranium excretion in urine, neutrophil counts and the serum level of FSH, LH and testosterone and analyzed chromosome aberrations in whole blood cells using fluorescence in situ hybridization. A representative cohort of 75 non-smoking, HIV-negative miners was compared to a control group of 31 individuals with no occupational history in mining. A sixfold increase in uranium excretion among the miners compared to the controls was recorded (P < 0.001). Furthermore, we determined a significant reduction in testosterone levels (P < 0.008) and neutrophil count (P < 0.004) in miners compared to the unexposed controls. A threefold increase in chromosome aberrations in the miners compared to the nonexposed controls was recorded (P < 0.0001). Most remarkably, cells with multiple aberrations such as "rogue" cells were observed for the first time in miners; these cells had previously been found only after short-term high-dose radiation exposure, e.g. from the Hiroshima atomic bomb or the Chernobyl accident. We conclude that the miners exposed to uranium are at an increased risk to acquire various degrees of genetic damage, and that the damage may be associated with an

  20. Adenomatous polyposis coli alteration in digestive endocrine tumours: correlation with nuclear translocation of beta-catenin and chromosomal instability.

    Science.gov (United States)

    Pizzi, Silvia; Azzoni, Cinzia; Tamburini, Elisa; Bottarelli, Lorena; Campanini, Nicoletta; D'Adda, Tiziana; Fellegara, Giovanni; Luong, Tu Vinh; Pasquali, Claudio; Rossi, Giulio; Delle Fave, Gianfranco; Camisa, Roberta; Bordi, Cesare; Rindi, Guido

    2008-12-01

    The role of Wnt pathway in digestive endocrine tumours is debated. The aim of this work is to investigate key players in Wnt pathway by a multimodal approach. Sixty cases (49 well-differentiated and 11 poorly differentiated) were investigated for methylation of adenomatous polyposis coli (APC) and E-cadherin promoters, the loss of heterozygosity (LOH) at APC locus and beta-catenin and E-cadherin expression by immunohistochemistry. Tumours showing altered beta-catenin localization were tested for beta-catenin and APC mutations. APC promoter methylation was restricted to gastroduodenal tumours (21 out of 59, 36%), prevalent in poorly differentiated carcinomas (P=0.042) and correlating with aggressive features (high histology grade, P<0.02; tumour death, P=0.026; high fractional allelic loss, P=0.002, in turn correlating with short survival, P=0.017). LOH at APC locus was found in 14 out of 53 cases (26%, 10 gastroduodenal and 4 colorectal), prevalent in poorly differentiated carcinomas (P=0.002) and correlating with histology grade (P=0.012). beta-catenin abnormal expression was found in 41 out of 54 cases (76%), with nuclear staining correlating with APC alteration (P=0.047) and short survival (P=0.006). APC, but not beta-catenin, gene mutations were found (7 out of 35 tumours), 4 of which in the midgut. E-cadherin promoter methylation was rarely detected (2 out of 52 cases), with cytoplasmic expression in 18 out of 43 cases (42%), not correlating with any clinico-pathological feature. In conclusion, Wnt pathway alterations, as represented by abnormal beta-catenin localization, are common events in digestive endocrine tumours, but only nuclear expression correlates with tumour aggressiveness. Though with different alteration mechanisms according to anatomical site, APC plays a major role in Wnt pathway activation and in determining the high chromosomal instability observed in aggressive endocrine carcinomas.

  1. An attenuated strain of Bacillus anthracis (CDC 684 has a large chromosomal inversion and altered growth kinetics

    Directory of Open Access Journals (Sweden)

    Ivins Bruce E

    2011-09-01

    Full Text Available Abstract Background An isolate originally labeled Bacillus megaterium CDC 684 was found to contain both pXO1 and pXO2, was non-hemolytic, sensitive to gamma-phage, and produced both the protective antigen and the poly-D-glutamic acid capsule. These phenotypes prompted Ezzell et al., (J. Clin. Microbiol. 28:223 to reclassify this isolate to Bacillus anthracis in 1990. Results We demonstrate that despite these B. anthracis features, the isolate is severely attenuated in a guinea pig model. This prompted whole genome sequencing and closure. The comparative analysis of CDC 684 to other sequenced B. anthracis isolates and further analysis reveals: a CDC 684 is a close relative of a virulent strain, Vollum A0488; b CDC 684 defines a new B. anthracis lineage (at least 51 SNPs that includes 15 other isolates; c the genome of CDC 684 contains a large chromosomal inversion that spans 3.3 Mbp; d this inversion has caused a displacement of the usual spatial orientation of the origin of replication (ori to the termination of replication (ter from 180° in wild-type B. anthracis to 120° in CDC 684 and e this isolate also has altered growth kinetics in liquid media. Conclusions We propose two alternative hypotheses explaining the attenuated phenotype of this isolate. Hypothesis 1 suggests that the skewed ori/ter relationship in CDC 684 has altered its DNA replication and/or transcriptome processes resulting in altered growth kinetics and virulence capacity. Hypothesis 2 suggests that one or more of the single nucleotide polymorphisms in CDC 684 has altered the expression of a regulatory element or other genes necessary for virulence.

  2. Unexpected rates of chromosomal instabilities and alterations of hormone levels in Namibian uranium miners

    Energy Technology Data Exchange (ETDEWEB)

    Zaire, R.; Notter, M.; Thiel, E. [Free Univ., Berlin (Germany)] [and others

    1997-05-01

    A common problem in determining the health consequences of radiation exposure is factoring out other carcinogenic influences. The conditions in Namibia provide a test case for distinguishing the effects of long-term low-dose exposure to uranium from the other environmental factors because of good air quality and the lack of other industries with negative health effects. Present records indicate a much higher prevalence of cancer among male workers in the open-pit uranium mine in Namibia compared with the general population. The objective of the present study was to determine whether long-term exposure to low doses of uranium increases the risk of a biological radiation damage which would lead to malignant diseases and to derive a dose-response model for these miners. To investigate this risk, we measured uranium excretion in urine, neutrophil counts and the serum level of FSH, LH and testosterone and analyzed chromosome aberrations in whole blood cells using fluorescence in situ hybridization. A representative cohort of 75 non-smoking, HIV-negative miners was compared to a control group of 31 individuals with no occupational history in mining. A sixfold increase in uranium excretion among the miners compared to the controls was recorded (P < 0.001). Furthermore, we determined a significant reduction in testosterone levels (P < 0.008) and neutrophil count (P < 0.0001). Most remarkably, cells with multiple aberrations such as {open_quotes}rogue{close_quotes} cells were observed for the first time in miners; these cells had previously been found only after short-term high-dose radiation exposure, e.g. from the Hiroshima atomic bomb or the Chernobyl accident. 19 refs., 1 fig., 3 tabs.

  3. NM Gross Receipts Baseline

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — This layer represents boundaries for New Mexico's gross receipts tax districts as identified on the "Gross Receipts Tax Rate Schedule" published by the Taxation and...

  4. Gross National Happiness

    DEFF Research Database (Denmark)

    Giri, Krishna Prasad; Kjær-Rasmussen, Lone Krogh

    This paper investigates practices related to the ideology of infusing Gross National Happiness (GNH) into school curriculum, the effectiveness of the meditation and mind training and the implication of GNH for school environment. It also explores how GNH ambience has been managed and practiced...... of Gross National Happiness and Educating for Gross National happiness....

  5. Switching the centromeres on and off: epigenetic chromatin alterations provide plasticity in centromere activity stabilizing aberrant dicentric chromosomes.

    Science.gov (United States)

    Sato, Hiroshi; Saitoh, Shigeaki

    2013-12-01

    The kinetochore, which forms on a specific chromosomal locus called the centromere, mediates interactions between the chromosome and the spindle during mitosis and meiosis. Abnormal chromosome rearrangements and/or neocentromere formation can cause the presence of multiple centromeres on a single chromosome, which results in chromosome breakage or cell cycle arrest. Analyses of artificial dicentric chromosomes suggested that the activity of the centromere is regulated epigenetically; on some stably maintained dicentric chromosomes, one of the centromeres no longer functions as a platform for kinetochore formation, although the DNA sequence remains intact. Such epigenetic centromere inactivation occurs in cells of various eukaryotes harbouring 'regional centromeres', such as those of maize, fission yeast and humans, suggesting that the position of the active centromere is determined by epigenetic markers on a chromosome rather than the nucleotide sequence. Our recent findings in fission yeast revealed that epigenetic centromere inactivation consists of two steps: disassembly of the kinetochore initiates inactivation and subsequent heterochromatinization prevents revival of the inactivated centromere. Kinetochore disassembly followed by heterochromatinization is also observed in normal senescent human cells. Thus epigenetic centromere inactivation may not only stabilize abnormally generated dicentric chromosomes, but also be part of an intrinsic mechanism regulating cell proliferation.

  6. MYC, TP53, and Chromosome 17 Copy-Number Alterations in Multiple Gastric Cancer Cell Lines and in Their Parental Primary Tumors

    Directory of Open Access Journals (Sweden)

    Mariana Ferreira Leal

    2011-01-01

    Full Text Available We evaluated whether MYC, TP53, and chromosome 17 copy-number alterations occur in ACP02, ACP03, and AGP01 gastric cancer cell lines and in their tumor counterpart. Fluorescence in situ hybridization for MYC and TP53 genes and for chromosome 17 was applied in the 6th, 12th, 60th, and 85th passages of the cell lines and in their parental primary tumors. We observed that three and four MYC signals were the most common alterations in gastric cell lines and tumors. ACP02 presented cells with two copies of chr17 and loss of one copy of TP53 more frequently than ACP03 and AGP01. Only ACP03 and AGP01 presented clonal chr17 trisomy with three or two TP53 copies. The frequency of MYC gain, TP53 loss, and chromosome 17 trisomy seems to increase in gastric cell lines compared to their parental tumors. Our findings reveal that these cell lines retain, in vitro, the genetic alterations presented in their parental primary tumors.

  7. Loovkirjutamist õpetab Philip Gross

    Index Scriptorium Estoniae

    2011-01-01

    T.S. Elioti luulepreemia laureaat Philip Gross on Tallinna Ülikooli talvekooli rahvusvahelise kursuse "Poetry: A Conversation between Words and Silence" läbiviija. Oma seminarides keskendub ta lisaks loovkirjutamisele ka loova lugemise vajadusele

  8. Gross Sales Tax Collections

    Data.gov (United States)

    City of Jackson, Mississippi — This data is captured directly from the MS Department of Revenue and specific to the City of Jackson. It is compiled from Gross Sales Tax reported by taxpayers each...

  9. Factor interaction analysis for chromosome 8 and DNA methylation alterations highlights innate immune response suppression and cytoskeletal changes in prostate cancer

    Directory of Open Access Journals (Sweden)

    Lengauer Thomas

    2007-02-01

    Full Text Available Abstract Background Alterations of chromosome 8 and hypomethylation of LINE-1 retrotransposons are common alterations in advanced prostate carcinoma. In a former study including many metastatic cases, they strongly correlated with each other. To elucidate a possible interaction between the two alterations, we investigated their relationship in less advanced prostate cancers. Results In 50 primary tumor tissues, no correlation was observed between chromosome 8 alterations determined by comparative genomic hybridization and LINE-1 hypomethylation measured by Southern blot hybridization. The discrepancy towards the former study, which had been dominated by advanced stage cases, suggests that both alterations converge and interact during prostate cancer progression. Therefore, interaction analysis was performed on microarray-based expression profiles of cancers harboring both alterations, only one, or none. Application of a novel bioinformatic method identified Gene Ontology (GO groups related to innate immunity, cytoskeletal organization and cell adhesion as common targets of both alterations. Many genes targeted by their interaction were involved in type I and II interferon signaling and several were functionally related to hereditary prostate cancer genes. In addition, the interaction appeared to influence a switch in the expression pattern of EPB41L genes encoding 4.1 cytoskeleton proteins. Real-time RT-PCR revealed GADD45A, MX1, EPB41L3/DAL1, and FBLN1 as generally downregulated in prostate cancer, whereas HOXB13 and EPB41L4B were upregulated. TLR3 was downregulated in a subset of the cases and associated with recurrence. Downregulation of EPB41L3, but not of GADD45A, was associated with promoter hypermethylation, which was detected in 79% of carcinoma samples. Conclusion Alterations of chromosome 8 and DNA hypomethylation in prostate cancer probably do not cause each other, but converge during progression. The present analysis implicates their

  10. The rad52-Y66A allele alters the choice of donor template during spontaneous chromosomal recombination

    DEFF Research Database (Denmark)

    de Mayolo, A.A.; Sunjevaric, I.; Reid, R.;

    2010-01-01

    Spontaneous mitotic recombination is a potential source of genetic changes Such as loss of heterozygosity and chromosome translocations, which may lead to genetic disease. In this study we have used a rad52 hyper-recombination mutant, rad52-Y66A, to investigate the process of spontaneous heteroal...

  11. Nicotine-induced Disturbances of Meiotic Maturation in Cultured Mouse Oocytes: Alterations of Spindle Integrity and Chromosome Alignment

    Directory of Open Access Journals (Sweden)

    Zenzes Maria

    2004-09-01

    Full Text Available Abstract We investigated whether nicotine exposure in vitro of mouse oocytes affects spindle and chromosome function during meiotic maturation (M-I and M-II. Oocytes in germinal vesicle (GV stage were cultured in nicotine for 8 h or for 16 h, to assess effects in M-I and in metaphase II (M-II. The latter culture setting used the three protocols: 8 h nicotine then 8 h medium (8N + 8M; 16 h nicotine (16N; 8 h medium then 8 h nicotine (8M + 8N. Non-toxic concentrations of nicotine at 1.0, 2.5, 5.0 and 10.0 mmol/L were used. Spindle-chromosome configurations were analyzed with wide-field optical sectioning microscopy. In 8 h cultures, nicotine exposure resulted in dose-related increased proportions of M-I oocytes with defective spindle-chromosome configurations. A dose-related delayed entry into anaphase I was also detected. In 16 h cultures, nicotine exposure for the first 8 h (8N + 8M, or for 16 h (16N, resulted in dose- and time-related increased proportions of oocytes arrested in M-I (10 mmol/L; 8 h: 53.2%, controls 9.6%; 16 h: 87.6%, controls 8.5%. Defects in M-I spindles and chromosomes caused M-I arrest leading to dose-related decreased proportions of oocytes that reached metaphase-II (10 mmol/L 8 h: 46.8%, controls 90.4%;16 h: 12.4%, controls 91.5%. A delayed anaphase-I affected the normal timing of M-II, leading to abnormal oocytes with dispersed chromosomes, or with double spindles and no polar body. Nicotine exposure during the second 8 h (8M + 8N resulted in dose-related, increased proportions of M-II oocytes with defective spindles and chromosomes (10 mmol/L: 42.9%, controls 2.0%. Nicotine has no adverse effects on GV break down, but induces spindle and chromosome defects compromising oocyte meiotic maturation and development.

  12. V(D)J recombinase mediated inter-chromosomal HPRT alterations at cryptic recombination signal sequences in peripheral human T cells.

    Science.gov (United States)

    Messier, Terri L; O'Neill, J Patrick; Finette, Barry A

    2006-08-01

    The V(D)J recombinase enzyme complex is responsible for the development of a diverse immune system by catalyzing intra-molecular rearrangements of immunoglobulin (Ig) and T cell receptor (TCR) genes at specific recombination signal sequences (RSSs). This enzyme complex has also been implicated in mediating pathologic and non-pathologic intra- and inter-molecular genomic rearrangements at cryptic (Psi) RSSs outside the immune system loci in lymphoid cells. We describe here two V(D)J recombinase mediated genomic rearrangements resulting in alterations at the HPRT locus in human T-cells. These are inter-chromosomal insertions in which DNA fragments are inserted at breakpoints generated by V(D)J recombinase cleavage at Psi RSS sites in the HPRT locus at Xq26. In the first, a TCR signal ended segment from chromosome 14q11 is inserted at a Psi RSS in intron 1 of the HPRT locus. In the second, a DNA fragment from 9q22 is integrated between the coding ends generated by a V(D)J recombinase mediated HPRT deletion. Identification of these in vivo V(D)J mediated inter-chromosomal insertions at Psi RSSs in the HPRT gene supports the accumulating evidence that V(D)J recombinase can mediate mutagenic rearrangements in humans with potential pathologic consequences.

  13. Genetic Alterations in Pesticide Exposed Bolivian Farmers: An evaluation by analysis of chromosomal aberrations and the comet assay.

    Science.gov (United States)

    Jørs, Erik; Gonzáles, Ana Rosa; Ascarrunz, Maria Eugenia; Tirado, Noemi; Takahashi, Catharina; Lafuente, Erika; Dos Santos, Raquel A; Bailon, Natalia; Cervantes, Rafael; O, Huici; Bælum, Jesper; Lander, Flemming

    2007-11-12

    Pesticides are of concern in Bolivia because of increasing use. Frequent intoxications have been demonstrated due to use of very toxic pesticides, insufficient control of distribution and sale and little knowledge among farmers of protective measures and hygienic procedures. Questionnaires were applied and blood tests taken from 81 volunteers from La Paz County, of whom 48 were pesticide exposed farmers and 33 non-exposed controls. Sixty males and 21 females participated with a mean age of 37.3 years (range 17-76). Data of exposure and possible genetic damage were collected and evaluated by well known statistical methods, controlling for relevant confounders. To measure genetic damage chromosomal aberrations and the comet assay analysis were performed. Pesticide exposed farmers had a higher degree of genetic damage compared to the control group. The number of chromosomal aberrations increased with the intensity of pesticide exposure. Females had a lower number of chromosomal aberrations than males, and people living at altitudes above 2500 metres seemed to exhibit more DNA damage measured by the comet assay. Bolivian farmers showed signs of genotoxic damage, probably related to exposure to pesticides. Due to the potentially negative long term health effects of genetic damage on reproduction and the development of cancer, preventive measures are recommended. Effective control with imports and sales, banning of the most toxic pesticides, education and information are possible measures, which could help preventing the negative effects of pesticides on human health and the environment.

  14. Genetic Alterations in Pesticide Exposed Bolivian Farmers: An evaluation by analysis of chromosomal aberrations and the comet assay

    Directory of Open Access Journals (Sweden)

    Erik Jørs

    2007-01-01

    Full Text Available Background: Pesticides are of concern in Bolivia because of increasing use. Frequent intoxications have been demonstrated due to use of very toxic pesticides, insufficient control of distribution and sale and little knowledge among farmers of protective measures and hygienic procedures.Method: Questionnaires were applied and blood tests taken from 81 volunteers from La Paz County, of whom 48 were pesticide exposed farmers and 33 non-exposed controls. Sixty males and 21 females participated with a mean age of 37.3 years (range 17–76. Data of exposure and possible genetic damage were collected and evaluated by well known statistical methods, controlling for relevant confounders. To measure genetic damage chromosomal aberrations and the comet assay analysis were performed.Results: Pesticide exposed farmers had a higher degree of genetic damage compared to the control group. The number of chromosomal aberrations increased with the intensity of pesticide exposure. Females had a lower number of chromosomal aberrations than males, and people living at altitudes above 2500 metres seemed to exhibit more DNA damage measured by the comet assay.Conclusions: Bolivian farmers showed signs of genotoxic damage, probably related to exposure to pesticides. Due to the potentially negative long term health effects of genetic damage on reproduction and the development of cancer, preventive measures are recommended. Effective control with imports and sales, banning of the most toxic pesticides, education and information are possible measures, which could help preventing the negative effects of pesticides on human health and the environment.

  15. A large scale survey reveals that chromosomal copy-number alterations significantly affect gene modules involved in cancer initiation and progression

    Directory of Open Access Journals (Sweden)

    Cigudosa Juan C

    2011-05-01

    Full Text Available Abstract Background Recent observations point towards the existence of a large number of neighborhoods composed of functionally-related gene modules that lie together in the genome. This local component in the distribution of the functionality across chromosomes is probably affecting the own chromosomal architecture by limiting the possibilities in which genes can be arranged and distributed across the genome. As a direct consequence of this fact it is therefore presumable that diseases such as cancer, harboring DNA copy number alterations (CNAs, will have a symptomatology strongly dependent on modules of functionally-related genes rather than on a unique "important" gene. Methods We carried out a systematic analysis of more than 140,000 observations of CNAs in cancers and searched by enrichments in gene functional modules associated to high frequencies of loss or gains. Results The analysis of CNAs in cancers clearly demonstrates the existence of a significant pattern of loss of gene modules functionally related to cancer initiation and progression along with the amplification of modules of genes related to unspecific defense against xenobiotics (probably chemotherapeutical agents. With the extension of this analysis to an Array-CGH dataset (glioblastomas from The Cancer Genome Atlas we demonstrate the validity of this approach to investigate the functional impact of CNAs. Conclusions The presented results indicate promising clinical and therapeutic implications. Our findings also directly point out to the necessity of adopting a function-centric, rather a gene-centric, view in the understanding of phenotypes or diseases harboring CNAs.

  16. The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function.

    Science.gov (United States)

    Jabbi, Mbemba; Kippenhan, J Shane; Kohn, Philip; Marenco, Stefano; Mervis, Carolyn B; Morris, Colleen A; Meyer-Lindenberg, Andreas; Berman, Karen Faith

    2012-04-03

    Although it is widely accepted that genes can influence complex behavioral traits such as human temperament, the underlying neurogenetic mechanisms remain unclear. Williams syndrome (WS), a rare disorder caused by a hemizygous deletion on chromosome 7q11.23, including genes important for neuronal migration and maturation (LIMK1 and CLIP2), is typified by a remarkable hypersocial but anxious personality and offers a unique opportunity to investigate this open issue. Based on the documented role of the insula in mediating emotional response tendencies and personality, we used multimodal imaging to characterize this region in WS and found convergent anomalies: an overall decrease in dorsal anterior insula (AI) gray-matter volume along with locally increased volume in the right ventral AI; compromised white-matter integrity of the uncinate fasciculus connecting the insula with the amygdala and orbitofrontal cortex; altered regional cerebral blood flow in a pattern reminiscent of the observed gray-matter alterations (i.e., widespread reductions in dorsal AI accompanied by locally increased regional cerebral blood flow in the right ventral AI); and disturbed neurofunctional interactions between the AI and limbic regions. Moreover, these genetically determined alterations of AI structure and function predicted the degree to which the atypical WS personality profile was expressed in participants with the syndrome. The AI's rich anatomical connectivity, its transmodal properties, and its involvement in the behaviors affected in WS make the observed genetically determined insular circuitry perturbations and their association with WS personality a striking demonstration of the means by which neural systems can serve as the interface between genetic variability and alterations in complex behavioral traits.

  17. Gross decontamination experiment report

    Energy Technology Data Exchange (ETDEWEB)

    Mason, R.; Kinney, K.; Dettorre, J.; Gilbert, V.

    1983-07-01

    A Gross Decontamination Experiment was conducted on various levels and surfaces of the TMI - Unit 2 reactor building in March 1982. The polar crane, D-rings, missile shields, refueling canals, refueling bridges, equipment, and elevations 305' and 347'-6'' were flushed with low pressure water. Additionally, floor surfaces on elevation 305' and floor surfaces and major pieces of equipment on elevation 347'-6'' were sprayed with high pressure water. Selective surfaces were decontaminated with a mechanical scrubber and chemicals. Strippable coating was tested and evaluated on equipment and floor surfaces. The effectiveness, efficiency, and safety of several decontamination techniques were established for the large, complex decontamination effort. Various decontamination equipment was evaluated and its effectiveness was documented. Decontamination training and procedures were documented and evaluated, as were the support system and organization for the experiment.

  18. Chromosomal instability in Streptomyces avermitilis: major deletion in the central region and stable circularized chromosome

    Directory of Open Access Journals (Sweden)

    Wen Ying

    2010-07-01

    Full Text Available Abstract Background The chromosome of Streptomyces has been shown to be unstable, frequently undergoing gross chromosomal rearrangements. However, the mechanisms underlying this phenomenon remain unclear, with previous studies focused on two chromosomal ends as targets for rearrangements. Here we investigated chromosomal instability of Streptomyces avermitilis, an important producer of avermectins, and characterized four gross chromosomal rearrangement events, including a major deletion in the central region. The present findings provide a valuable contribution to the mechanistic study of genetic instability in Streptomyces. Results Thirty randomly-selected "bald" mutants derived from the wild-type strain all contained gross chromosomal rearrangements of various types. One of the bald mutants, SA1-8, had the same linear chromosomal structure as the high avermectin-producing mutant 76-9. Chromosomes of both strains displayed at least three independent chromosomal rearrangements, including chromosomal arm replacement to form new 88-kb terminal inverted repeats (TIRs, and two major deletions. One of the deletions eliminated the 36-kb central region of the chromosome, but surprisingly did not affect viability of the cells. The other deletion (74-kb was internal to the right chromosomal arm. The chromosome of another bald mutant, SA1-6, was circularized with deletions at both ends. No obvious homology was found in all fusion sequences. Generational stability analysis showed that the chromosomal structure of SA1-8 and SA1-6 was stable. Conclusions Various chromosomal rearrangements, including chromosomal arm replacement, interstitial deletions and chromosomal circularization, occurred in S. avermitilis by non-homologous recombination. The finding of an inner deletion involving in the central region of S. avermitilis chromosome suggests that the entire Streptomyces chromosome may be the target for rearrangements, which are not limited, as previously

  19. Common chromosomal fragile sites (CFS) may be involved in normal and traumatic cognitive stress memory consolidation and altered nervous system immunity.

    Science.gov (United States)

    Gericke, G S

    2010-05-01

    Previous reports of specific patterns of increased fragility at common chromosomal fragile sites (CFS) found in association with certain neurobehavioural disorders did not attract attention at the time due to a shift towards molecular approaches to delineate neuropsychiatric disorder candidate genes. Links with miRNA, altered methylation and the origin of copy number variation indicate that CFS region characteristics may be part of chromatinomic mechanisms that are increasingly linked with neuroplasticity and memory. Current reports of large-scale double-stranded DNA breaks in differentiating neurons and evidence of ongoing DNA demethylation of specific gene promoters in adult hippocampus may shed new light on the dynamic epigenetic changes that are increasingly appreciated as contributing to long-term memory consolidation. The expression of immune recombination activating genes in key stress-induced memory regions suggests the adoption by the brain of this ancient pattern recognition and memory system to establish a structural basis for long-term memory through controlled chromosomal breakage at highly specific genomic regions. It is furthermore considered that these mechanisms for management of epigenetic information related to stress memory could be linked, in some instances, with the transfer of the somatically acquired information to the germline. Here, rearranged sequences can be subjected to further selection and possible eventual retrotranscription to become part of the more stable coding machinery if proven to be crucial for survival and reproduction. While linkage of cognitive memory with stress and fear circuitry and memory establishment through structural DNA modification is proposed as a normal process, inappropriate activation of immune-like genomic rearrangement processes through traumatic stress memory may have the potential to lead to undesirable activation of neuro-inflammatory processes. These theories could have a significant impact on the

  20. Effects of ERBB2 amplicon size and genomic alterations of chromosomes 1, 3, and 10 on patient response to trastuzumab in metastatic breast cancer.

    Science.gov (United States)

    Morrison, Larry E; Jewell, Susan S; Usha, Lydia; Blondin, Beth A; Rao, Ruta D; Tabesh, Bita; Kemper, Matthew; Batus, Marta; Coon, John S

    2007-04-01

    Trastuzumab is widely used for advanced breast cancer patients with ERBB2-amplified tumors. Nevertheless, over half of these patients do not have an objective response. One reason may be altered expression of genes that might compensate for ERBB2 inhibition. We previously mapped the gene-rich region of chromosome 17 telomeric to ERBB2, and reported considerable variability in the telomeric extent of the ERBB2 amplicon. Here we examined whether the variable amplicon size may be associated with patient response to trastuzumab. In addition, we looked at associations between response and several signaling pathway-related genes unrelated to the ERBB2 amplicon, including AKT3, PTEN, PIK3CA, and PTGS2. In 35 patients with ERBB2-amplified metastatic breast cancer, with 40% overall response to trastuzumab, fluorescence in situ hybridization identified the telomeric extent of the ERBB2 amplicon and the status of the several pathway-related genes. Objective response strongly correlated with the telomeric amplicon size, with 62% of patients with shorter amplicons responding, compared with only 7% of patients with longer amplicons (P = 0.0015). Abnormal copy number of PTGS2 was marginally associated with objective response (P = 0.066), while abnormal copy numbers of two reference loci, 1q25 and the chromosome 10 centromere, were significantly associated with response. Pairwise combinations of copy number status of these loci and ERBB2 amplicon size provided stronger associations and identified a group of patients without responders. These results suggest that patient selection for trastuzumab may be improved by considering ERBB2 amplicon size and genomic status of the 1q25, PTGS2, and centromere 10 loci.

  1. Cold-induced alteration in the global structure of the male sex chromosome of In(1)B$^{M2}$(reinverted) of Drosophila melanogaster is associated with increased acetylation of histone 4 at lysine 16

    Indian Academy of Sciences (India)

    S. Kulkarni-Shukla; A. P. Barge; R. S. Vartak; Anita Kar

    2008-12-01

    In Drosophila melanogaster, dosage compensation occurs through hypertranscription of sex-linked genes in males. The hypertranscription involves acetylation of histone 4 at lysine 16 (H4K16) on amale X-chromosome, brought about by a histone acetyltransferase encoded by the dosage compensation gene, males absent on the first (mof). We report a phenomenon in the strain In(1)B$^{M2}$(reinverted) of D. melanogaster where the global structure of the male X-chromosome can be altered at the third instar larval stage through a 4-h cold shock at 12±1°C. We show that the cold shock results in a transient hyperacetylation of H4K16 and an increased expression of MOF. Control proteins H4 acetylated at lysine 5, and the dosage compensation gene msl-2, do not show any change in expression after cold shock. Cytology of the male X-chromosome at different time points during cold shock and recovery, suggests that the hyperacetylation of H4 at lysine 16 causes the X-chromosome to corkscrew into itself, thereby achieving the cold-induced change in the higher order structure of the male polytene X-chromosome. Our studies suggest a role for H4K16 in maintaining the structure of the male X-chromosome in Drosophila.

  2. Detecting chromosomal alterations at 1p and 19q by FISH and DNA fragment analysis - a comparative study in human gliomas

    DEFF Research Database (Denmark)

    Broholm, H.; Born, P.W.; Guterbaum, D.;

    2008-01-01

    Histological classification of gliomas is important for treatment and as a prognostic predictor, but classification by histology alone can be a challenge. Molecular genetic investigations, in particular the combined loss of the short arm of chromosome 1 and the long arm of chromosome 19 (LOH1p/19...

  3. Two mutations in the locus control region hypersensitivity site-2 (5' HS-2) of haplotype 19 beta s chromosomes alter binding of trans-acting factors.

    Science.gov (United States)

    Morgan, J C; Scott, D F; Lanclos, K D

    1996-01-01

    There are five major haplotypes associated with sickle cell anemia (SS). Individuals homozygous for haplotypes 3 (Senegal) and 31 (Saudi Arabian) have high fetal hemoglobin (HbF) levels (15 to 30% of total hemoglobin) whereas individuals homozygous for haplotypes 17 (Cameroon), 19 (Benin), and 20 (Bantu) have low HbF levels (1 to 10%). We previously identified several point mutations in the LCR 5'HS-2 that were specific for haplotype 19 beta s chromosomes (compared to the GenBank HUMHBB reference sequence, T-->G at position 8580, A-->G at position 8598, and A-->T at position 9114). We postulated that one or more of these mutations may alter the binding of specific trans-acting factors and ultimately affect the expression of HbF in these sickle cell patients. We performed gel mobility shift assays using 32P-end-labeled double-stranded 19mers corresponding to each of the LCR 5'HS-2 normal (GenBank) and mutant sequences. Nuclear extracts prepared from HeLa and HEL cells were used in our experiments and neither the normal nor mutant sequence at position 8580 bound trans-acting factors in either nuclear extract. The 8598 mutant increased binding of Sp1; using purified protein and both nuclear extracts. HEL extracts were used to quantify the increase in Sp1 binding to the 8598 mutation and we found an increase in binding of 66 and 47%, respectively, in two shifted bands. The 9114 mutation sharply decreased binding of an unknown trans-acting factor by 74%. This factor was present in both HeLa and HEL nuclear extracts.

  4. Gross job flows and firms

    OpenAIRE

    Scott Schuh; Robert K. Triest

    1999-01-01

    This paper extends the work of Dunne, Roberts, and Samuelson [3] and Davis, Haltiwanger, and Schuh [2] on gross job flows among manufacturing plants. Gross job creation, destruction, and reallocation have been shown to be important in understanding the birth, growth, and death of plants, and the relation of plant life cycles to the business cycle. However, little is known about job flows between firms or how job flows among plants occur within firms (corporate restructuring). We use informati...

  5. 肝细胞癌8号染色体微卫星变异的研究%Microsatellite Alterations on Chromosome 8 of Hepatocellular Carcinoma

    Institute of Scientific and Technical Information of China (English)

    张树辉; 冼志红; 丛文铭; 吴孟超

    2004-01-01

    目的探讨肝细胞癌(HCC)8号染色体微卫星变异的特点及其与临床病理的相关性.方法采用MegaBACE 500型自动化DNA分析系统,对56例HCC中8号染色体上10个微卫星的杂合性缺失(LOH)、微卫星不稳定性(MSI)和等位基因失衡(AI)3种变异特征进行检测.结果56例HCC在8号染色体上10个基因座发生LOH的总频率为66.1%(37/56),MSI的频率为12.5%(7/56),AI的频率为19.6%(11/56).LOH以D8S261最高为53.5%(23/43),其次为D8S1721(52.5%)和D8S1771(52.5%).D8S277基因座,血清HBsAg阳性患者的LOH频率显著高于HBsAg阴性者(P<0.01),D8S261、D8S298和D8S1733基因座,血清HBsAg阴性患者的LOH频率显著高于HBsAg阳性者(P<0.01);D8S298和D8S1771基因座,肿瘤直径>3cm的LOH率明显高于≤3cm组(P<0.05和P<0.01);在D8S1721基因座,无包膜或包膜不完整的肿瘤的LOH显著高于包膜完整的肿瘤(P<0.01);D8S298和D8S1771基因座,肝内转移者的LOH明显高于无肝内转移者(P<0.05).MSI和AI与HCC临床病理学特点无明显相关性.结论HCC的8号染色体上存在广泛的微卫星变异,其中以代表肿瘤抑制基因路径的LOH方式在HCC的发生和发展过程中起重要作用,代表错配修复基因路径的MSI的作用次之.特定基因座的LOH与临床和病理学参数有一定的相关性.%Objective: To study the features of microsatellite alterations on chromosome 8 and their asso-ciation with clinicopathological characteristics of hepatocellular carcinoma (HCC). Methods: Ten highly-polymorphic microsatellite markers on chromosome 8 were selected to be detected for loss of heterozygosity(LOH), microsatellite instability (MSI) and allelic imbalance (AI) in 56 HCC using MegaBACE 500 auto-matic DNA analysis system. Results: LOH was found in 37 of 56 HCC (66.1%) on at least 1 locus, and the top three loci were D8S261(53.5%), D8S1721(52.5%) and D8S1771(52.5%). LOH frequency on D8S277 was significantly higher in cases positive for serum HBs

  6. Marker chromosomes.

    Science.gov (United States)

    Rao, Kiran Prabhaker; Belogolovkin, Victoria

    2013-04-01

    Marker chromosomes are a morphologically heterogeneous group of structurally abnormal chromosomes that pose a significant challenge in prenatal diagnosis. Phenotypes associated with marker chromosomes are highly variable and range from normal to severely abnormal. Clinical outcomes are very difficult to predict when marker chromosomes are detected prenatally. In this review, we outline the classification, etiology, cytogenetic characterization, and clinical consequences of marker chromosomes, as well as practical approaches to prenatal diagnosis and genetic counseling.

  7. On a question of Gross

    Science.gov (United States)

    Banerjee, Abhijit

    2007-03-01

    Using the notion of weighted sharing of sets we prove two uniqueness theorems which improve the results proved by Fang and Qiu [H. Qiu, M. Fang, A unicity theorem for meromorphic functions, Bull. Malaysian Math. Sci. Soc. 25 (2002) 31-38], Lahiri and Banerjee [I. Lahiri, A. Banerjee, Uniqueness of meromorphic functions with deficient poles, Kyungpook Math. J. 44 (2004) 575-584] and Yi and Lin [H.X. Yi, W.C. Lin, Uniqueness theorems concerning a question of Gross, Proc. Japan Acad. Ser. A 80 (2004) 136-140] and thus provide an answer to the question of Gross [F. Gross, Factorization of meromorphic functions and some open problems, in: Proc. Conf. Univ. Kentucky, Lexington, KY, 1976, in: Lecture Notes in Math., vol. 599, Springer, Berlin, 1977, pp. 51-69], under a weaker hypothesis.

  8. Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain

    OpenAIRE

    Rafagnin Duarte, Rodrigo; Troakes, Claire; Nolan, Matthew; Srivastava, Deepak P.; Murray, Robin M; Bray, Nicholas J.

    2016-01-01

    Chromosome 10q24.32-q24.33 is one of the most robustly supported risk loci to emerge from genome-wide association studies (GWAS) of schizophrenia. However, extensive linkage disequilibrium makes it difficult to distinguish the actual susceptibility gene(s) at the locus, limiting its value for improving biological understanding of the condition. In the absence of coding changes that can account for the association, risk is likely conferred by altered regulation of one or more genes in the regi...

  9. Genome‐wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis‐regulation of BORCS7, AS3MT, and NT5C2 in the human brain

    OpenAIRE

    Duarte, Rodrigo R. R.; Troakes, Claire; Nolan, Matthew; Srivastava, Deepak P.; Murray, Robin M; Bray, Nicholas J.

    2016-01-01

    Chromosome 10q24.32‐q24.33 is one of the most robustly supported risk loci to emerge from genome‐wide association studies (GWAS) of schizophrenia. However, extensive linkage disequilibrium makes it difficult to distinguish the actual susceptibility gene(s) at the locus, limiting its value for improving biological understanding of the condition. In the absence of coding changes that can account for the association, risk is likely conferred by altered regulation of one or more genes in the regi...

  10. Artifically inserting a reticuloendotheliosis virus long terminal repeat into a bacterial artificial chromosome clone of Marek's disease virus (MDV) alters expression of nearby MDV genes

    Science.gov (United States)

    The long terminal repeat (LTR) sequence of reticuloendotheliosis virus (REV) was inserted into the very virulent Marek’s disease virus (MDV) Md5 bacterial artificial chromosome clone. The insertion site was nearly identical to the REV LTR that was naturally inserted into the JM/102W strain of MDV fo...

  11. NM Gross Receipts July - December 2012

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — This layer represents boundaries for New Mexico's gross receipts tax districts as identified on the "Gross Receipts Tax Rate Schedule" published by the Taxation and...

  12. NM Gross Receipts January - June 2014

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — This layer represents boundaries for New Mexico's gross receipts tax districts as identified on the "Gross Receipts Tax Rate Schedule" published by the Taxation and...

  13. NM Gross Receipts January - June 2012

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — This layer represents boundaries for New Mexico's gross receipts tax districts as identified on the "Gross Receipts Tax Rate Schedule" published by the Taxation and...

  14. NM Gross Receipts January - June 2013

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — This layer represents boundaries for New Mexico's gross receipts tax districts as identified on the "Gross Receipts Tax Rate Schedule" published by the Taxation and...

  15. NM Gross Receipts January - June 2011

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — This layer represents boundaries for New Mexico's gross receipts tax districts as identified on the "Gross Receipts Tax Rate Schedule" published by the Taxation and...

  16. NM Gross Receipts July - December 2013

    Data.gov (United States)

    Earth Data Analysis Center, University of New Mexico — This layer represents boundaries for New Mexico's gross receipts tax districts as identified on the "Gross Receipts Tax Rate Schedule" published by the Taxation and...

  17. Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: Pathological significance in early- and late-onset breast carcinoma

    Directory of Open Access Journals (Sweden)

    Roychoudhury Susanta

    2008-11-01

    Full Text Available Abstract Introduction Younger women with breast carcinoma (BC exhibits more aggressive pathologic features compared to older women; young age could be an independent predictor of adverse prognosis. To find any existing differences in the molecular pathogenesis of BC in both younger and older women, alterations at chromosomal (chr. 9q22.32-22.33 region were studied owing to its association in wide variety of tumors. Present work focuses on comparative analysis of alterations of four candidate genes; PHF2, FANCC, PTCH1 and XPA located within 4.4 Mb region of the afore-said locus in two age groups of BC, as well as the interrelation and prognostic significance of alterations of these genes. Methods Deletion analysis of PHF2, FANCC, PTCH1 and XPA were examined in a subset of 47 early-onset (group-A: ≤ 40 years and 59 late-onset (group-B: > 40 years breast carcinomas using both microsatellite and exonic markers. Methylation Sensitive Restriction analysis (MSRA was done to check for promoter methylation. Quantitative real-time polymerase chain reaction (Q-PCR and immunohistochemisty (IHC was done in some genes to see their relative mRNA and protein expressions respectively. Clinico-pathological correlation of different parameters as well as patient survival was calculated using different statistical softwares like EpiInfo 6.04b, SPSS 10.0 etc. Results Either age group exhibited high frequency of overall alterations in PHF2, FANCC and PTCH1 compared to XPA. Samples with alteration (deletion/methylation in these genes showed reduced level of mRNA expression as seen by Q-PCR. Immunohistochemical analysis of FANCC and PTCH1 also supported this observation. Poor patient survival was noted in both age groups having alterations in FANCC. Similar result was also seen with PTCH1 and XPA alterations in group-A and PHF2 alterations in group-B. This reflected their roles as prognostic tools in the respective groups in which they were altered. Conclusion Overall

  18. Gross anatomy of network security

    Science.gov (United States)

    Siu, Thomas J.

    2002-01-01

    Information security involves many branches of effort, including information assurance, host level security, physical security, and network security. Computer network security methods and implementations are given a top-down description to permit a medically focused audience to anchor this information to their daily practice. The depth of detail of network functionality and security measures, like that of the study of human anatomy, can be highly involved. Presented at the level of major gross anatomical systems, this paper will focus on network backbone implementation and perimeter defenses, then diagnostic tools, and finally the user practices (the human element). Physical security measures, though significant, have been defined as beyond the scope of this presentation.

  19. Modeling Chromosomes

    Science.gov (United States)

    Robertson, Carol

    2016-01-01

    Learning about chromosomes is standard fare in biology classrooms today. However, students may find it difficult to understand the relationships among the "genome", "chromosomes", "genes", a "gene locus", and "alleles". In the simple activity described in this article, which follows the 5E approach…

  20. Effects of land use change on soil gross nitrogen transformation rates in subtropical acid soils of Southwest China.

    Science.gov (United States)

    Xu, Yongbo; Xu, Zhihong

    2015-07-01

    Land use change affects soil gross nitrogen (N) transformations, but such information is particularly lacking under subtropical conditions. A study was carried out to investigate the potential gross N transformation rates in forest and agricultural (converted from the forest) soils in subtropical China. The simultaneously occurring gross N transformations in soil were quantified by a (15)N tracing study under aerobic conditions. The results showed that change of land use types substantially altered most gross N transformation rates. The gross ammonification and nitrification rates were significantly higher in the agricultural soils than in the forest soils, while the reverse was true for the gross N immobilization rates. The higher total carbon (C) concentrations and C / N ratio in the forest soils relative to the agricultural soils were related to the greater gross N immobilization rates in the forest soils. The lower gross ammonification combined with negligible gross nitrification rates, but much higher gross N immobilization rates in the forest soils than in the agricultural soils suggest that this may be a mechanism to effectively conserve available mineral N in the forest soils through increasing microbial biomass N, the relatively labile organic N. The greater gross nitrification rates and lower gross N immobilization rates in the agricultural soils suggest that conversion of forests to agricultural soils may exert more negative effects on the environment by N loss through NO3 (-) leaching or denitrification (when conditions for denitrification exist).

  1. Chromosome landmarks and autosome-sex chromosome translocations in Rumex hastatulus, a plant with XX/XY1Y2 sex chromosome system.

    Science.gov (United States)

    Grabowska-Joachimiak, Aleksandra; Kula, Adam; Książczyk, Tomasz; Chojnicka, Joanna; Sliwinska, Elwira; Joachimiak, Andrzej J

    2015-06-01

    Rumex hastatulus is the North American endemic dioecious plant with heteromorphic sex chromosomes. It is differentiated into two chromosomal races: Texas (T) race characterised by a simple XX/XY sex chromosome system and North Carolina (NC) race with a polymorphic XX/XY1Y2 sex chromosome system. The gross karyotype morphology in NC race resembles the derived type, but chromosomal changes that occurred during its evolution are poorly understood. Our C-banding/DAPI and fluorescence in situ hybridization (FISH) experiments demonstrated that Y chromosomes of both races are enriched in DAPI-positive sequences and that the emergence of polymorphic sex chromosome system was accompanied by the break of ancestral Y chromosome and switch in the localization of 5S rDNA, from autosomes to sex chromosomes (X and Y2). Two contrasting domains were detected within North Carolina Y chromosomes: the older, highly heterochromatinised, inherited from the original Y chromosome and the younger, euchromatic, representing translocated autosomal material. The flow-cytometric DNA estimation showed ∼3.5 % genome downsizing in the North Carolina race. Our results are in contradiction to earlier reports on the lack of heterochromatin within Y chromosomes of this species and enable unambiguous identification of autosomes involved in the autosome-heterosome translocation, providing useful chromosome landmarks for further studies on the karyotype and sex chromosome differentiation in this species.

  2. Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain.

    Science.gov (United States)

    Duarte, Rodrigo R R; Troakes, Claire; Nolan, Matthew; Srivastava, Deepak P; Murray, Robin M; Bray, Nicholas J

    2016-09-01

    Chromosome 10q24.32-q24.33 is one of the most robustly supported risk loci to emerge from genome-wide association studies (GWAS) of schizophrenia. However, extensive linkage disequilibrium makes it difficult to distinguish the actual susceptibility gene(s) at the locus, limiting its value for improving biological understanding of the condition. In the absence of coding changes that can account for the association, risk is likely conferred by altered regulation of one or more genes in the region. We, therefore, used highly sensitive measures of allele-specific expression to assess cis-regulatory effects associated with the two best-supported schizophrenia risk variants (SNP rs11191419 and indel ch10_104957618_I/rs202213518) on the primary positional candidates BORCS7, AS3MT, CNNM2, and NT5C2 in the human brain. Heterozygosity at rs11191419 was associated with increased allelic expression of BORCS7 and AS3MT in the fetal and adult brain, and with reduced allelic expression of NT5C2 in the adult brain. Heterozygosity at ch10_104957618_I was associated with reduced allelic expression of NT5C2 in both the fetal and adult brain. Comparisons between cDNA ratios in heterozygotes and homozygotes for the risk alleles indicated that cis-effects on NT5C2 expression in the adult dorsolateral prefrontal cortex could be largely accounted for by genotype at these two risk variants. While not excluding effects on other genes in the region, this study implicates altered neural expression of BORCS7, AS3MT, and NT5C2 in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.

  3. Genome‐wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis‐regulation of BORCS7, AS3MT, and NT5C2 in the human brain

    Science.gov (United States)

    Duarte, Rodrigo R. R.; Troakes, Claire; Nolan, Matthew; Srivastava, Deepak P.; Murray, Robin M.

    2016-01-01

    Chromosome 10q24.32‐q24.33 is one of the most robustly supported risk loci to emerge from genome‐wide association studies (GWAS) of schizophrenia. However, extensive linkage disequilibrium makes it difficult to distinguish the actual susceptibility gene(s) at the locus, limiting its value for improving biological understanding of the condition. In the absence of coding changes that can account for the association, risk is likely conferred by altered regulation of one or more genes in the region. We, therefore, used highly sensitive measures of allele‐specific expression to assess cis‐regulatory effects associated with the two best‐supported schizophrenia risk variants (SNP rs11191419 and indel ch10_104957618_I/rs202213518) on the primary positional candidates BORCS7, AS3MT, CNNM2, and NT5C2 in the human brain. Heterozygosity at rs11191419 was associated with increased allelic expression of BORCS7 and AS3MT in the fetal and adult brain, and with reduced allelic expression of NT5C2 in the adult brain. Heterozygosity at ch10_104957618_I was associated with reduced allelic expression of NT5C2 in both the fetal and adult brain. Comparisons between cDNA ratios in heterozygotes and homozygotes for the risk alleles indicated that cis‐effects on NT5C2 expression in the adult dorsolateral prefrontal cortex could be largely accounted for by genotype at these two risk variants. While not excluding effects on other genes in the region, this study implicates altered neural expression of BORCS7, AS3MT, and NT5C2 in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc. PMID:27004590

  4. Evaluation of gross radioactivity in foodstuffs

    Energy Technology Data Exchange (ETDEWEB)

    Zorer, Oezlem Selcuk; Oeter, Cigdem [Yuzuncu Yil Univ., Van (Turkey). Dept. of Chemistry

    2015-05-15

    The paper presents the results of radiological investigations of food products sampled in the summer and fall of 2011 and 2012 in different parts of Van, Turkey. Gross radioactivity measurements in food products were evaluated. Food items were divided into eight groups: (1) water, (2) fish, (3) cheese products, (4) fruits, (5) vegetables, (6) herbs, (7) walnut and (8) rock salt. The levels of the gross alpha and gross beta radioactivity in all food samples varied widely ranging from 0.070 to 10.885 Bq/g and from 0.132 to 48.285 Bq/g on dry mass basis, respectively. In one sample, gross alpha and gross beta activity concentrations were found to be relatively high according to the other samples and in all samples, the gross alpha radioactivity was measured lower than the gross beta radioactivity. The gross α and gross β activities were measured by using α/β counter of the multi-detector low background system (PIC MPC-9604).

  5. Sex chromosome rearrangements in Polyphaga beetles.

    Science.gov (United States)

    Dutrillaux, A M; Dutrillaux, B

    2009-01-01

    The presence of a parachute sex chromosome bivalent (Xyp) at metaphase I of male meiosis is a well-known characteristic of Coleoptera, present in almost all families of this order and assumed to represent their ancestral sex chromosome formula. Sex chromosomes appear to be manifold more frequently involved in inter-chromosomal rearrangements than the average of the nine autosomal pairs usually forming their karyotype. This leads to various formulae such as neo-sex, multiple sex and perhaps unique sex chromosomes. These rearrangements alter the intimate association between sex chromosomes and nucleolar proteins, which are usual components of the Xyp. Different situations, selected in a series of 125 mitotic and meiotic cytogenetic studies of Polyphaga beetle species, are reported and discussed, with the aim to improve our knowledge on the mechanisms of sex chromosome rearrangements, the relationships with nucleoli and the consequences on dosage compensation and chromosome segregation.

  6. Measures of Gross National Happiness

    Directory of Open Access Journals (Sweden)

    Ruut Veenhoven

    2010-02-01

    Full Text Available Happiness is rising on the political agenda and this calls for measures of how well nations perform in creating great happiness for a great number, analogous to measures of success in creating wealth, such as GDP. Happiness is defined as subjective enjoyment of one’s life as-a-whole and this can be measured using self-reports. Question on happiness are currently used in large scale surveys of the general population in nations. As a result we have now comparable data on happiness in 144 contemporary nations and time-series of 25 years and longer on 11 developed nations. These data can be aggregated in different ways: If the aim is simply greater happiness for a greater number of citizens, Average happiness (AH is an appropriate measure. If the focus is on enduring happiness, it is better to combine average happiness with longevity in an index of Happy Life Years (HLY. If the aim is to reduce disparity among citizens a relevant indicator is the Inequality of Happiness (IH in the nations as measured with the standard deviation. Average and dispersion can also be combined in an index of Inequality-Adjusted Happiness (IAH. Comparison across nations shows sizable differences on all these measures of gross national happiness and these differences correspond with societal characteristics that can be influenced by policy makers, such as freedom and justice. Comparison over time shows major improvement during the last decade.

  7. TERATOGENIC EFFECTS OF SILVER NANOPARTICLES: GROSS ANOMALIES

    Directory of Open Access Journals (Sweden)

    Jyoti Prakash

    2015-07-01

    Full Text Available BACK GROUND: Prenatal exposure of AgNPs can induces devastative and detrimental effect in the organogenesis period of the developing embryos and foetuses. Organogenesis period is highly condemnatory and persuadable. Any injury to embryo during this period leads to dysmorphogenesis or even death AIM: The present study means to evaluate the gross anomalies on developing f o etus subsequent to silver nanoparticle ingestion during the gestational period. MATERIAL & METHOD: Random selections of pregnant Swiss albino mice were selected. AgNPs, of 20 - 100 nm size ra nge, were administered to pregnant mice by repeated oral gavages at concentra tions of 0.5, 1, 5, 10, 15 & 20 mg/kg/day during 4 - 17 gestational day. All dams were subjected to exteriorization on GD 18. The fetuses were evaluated for body malformation effects . RESULTS: Repeated oral gavages treatment with AgNPs at a concentration of 0.5mg/kg/day caused resorption (4.61% and intra uterine growth retardation (7.69% with no gross morphology alteration. 1 mg/kg/day caused resorption (9.23% and intra uterine growth retardation (10.76% with a rare case of haemorrhagic conception (1.53%, 5mg/kg/day caused limb malformation (7.01% resorption (17.54% and intra uterine growth retardation (17.54%, closed type Neural tube deformity (5.26%, 10mg/kg/day caused 20 % of limb malformation including Amelia, foot and tail vein hemorrhages and simple tail vein haemorrhage (3.50% each, resorption (22.80%, intra uterine growth retardation (29.82%, 15mg/kg/day caused severe hemorrhage within the entire body (22.80%, lim b anomaly including syndactyly and oligodactyly (8.77%, resorption (42.10%, intra uterine growth retardation (45.61%, 20mg/kg/day caused Omphalocele (3.27%, Bidiscoidal placental anomaly (9.83%, resorption (29.50% and intra uterine growth retardation (62.29%. CONCLUSION: The results show that a repeated oral dose of AgNPs during pregnancy caused fetal body dysmorphogenesis which is dose

  8. PTEN loss and chromosome 8 alterations in Gleason grade 3 prostate cancer cores predicts the presence of un-sampled grade 4 tumor: implications for active surveillance.

    Science.gov (United States)

    Trock, Bruce J; Fedor, Helen; Gurel, Bora; Jenkins, Robert B; Knudsen, B S; Fine, Samson W; Said, Jonathan W; Carter, H Ballentine; Lotan, Tamara L; De Marzo, Angelo M

    2016-07-01

    Men who enter active surveillance because their biopsy exhibits only Gleason grade 3 (G3) frequently have higher grade tumor missed by biopsy. Thus, biomarkers are needed that, when measured on G3 tissue, can predict the presence of higher grade tumor in the whole prostate. We evaluated whether PTEN loss, chromosome 8q gain (MYC) and/or 8p loss (LPL) measured only on G3 cores is associated with un-sampled G4 tumor. A tissue microarray was constructed of prostatectomy tissue from patients whose prostates exhibited only Gleason score 3+3, only 3+4 or only 4+3 tumor (n=50 per group). Cores sampled only from areas of G3 were evaluated for PTEN loss by immunohistochemistry, and PTEN deletion, LPL/8p loss and MYC/8q gain by fluorescence in situ hybridization. Biomarker results were compared between Gleason score 6 vs 7 tumors using conditional logistic regression. PTEN protein loss, odds ratio=4.99, P=0.033; MYC/8q gain, odds ratio=5.36, P=0.010; and LPL/8p loss, odds ratio=3.96, P=0.003 were significantly more common in G3 cores derived from Gleason 7 vs Gleason 6 tumors. PTEN gene deletion was not statistically significant. Associations were stronger comparing Gleason 4+3 vs 6 than for Gleason 3+4 vs 6. MYC/8q gain, LPL/8p loss and PTEN protein loss measured in G3 tissue microarray cores strongly differentiate whether the core comes from a Gleason 6 or Gleason 7 tumor. If validated to predict upgrading from G3 biopsy to prostatectomy these biomarkers could reduce the likelihood of enrolling high-risk men and facilitate safe patient selection for active surveillance.

  9. Insertion of reticuloendotheliosis virus long terminal repeat into a bacterial artificial chromosome clone of a very virulent Marek's disease virus alters its pathogenicity.

    Science.gov (United States)

    Mays, Jody K; Silva, Robert F; Kim, Taejoong; Fadly, Aly

    2012-01-01

    Co-cultivation of the JM/102W strain of Marek's disease virus (MDV) with reticuloendotheliosis virus (REV) resulted in the generation of a recombinant MDV containing the REV long terminal repeat (LTR) named the RM1 strain of MDV, a strain that was highly attenuated for oncogenicity but induced severe bursal and thymic atrophy. We hypothesize that the phenotypic changes were solely due to the LTR insertion. Furthermore, we hypothesize that insertion of REV LTR into an analogous location in a different MDV would result in a similar phenotypic change. To test these hypotheses, we inserted the REV LTR into a bacterial artificial chromosome (BAC) clone of a very virulent strain of MDV, Md5, and designated the virus rMd5-RM1-LTR. The rMd5-RM1-LTR virus and the rMd5 virus were passaged in duck embryo fibroblast cells for up to 40 passages before pathogenicity studies. Susceptible chickens were inoculated intra-abdominally at hatch with the viruses rMd5-RM1-LTR, rMd5 BAC parental virus, wild-type strain Md5, or strain RM1 of MDV. The rMd5-RM1-LTR virus was attenuated at cell culture passage 40, whereas the rMd5 BAC without RM1 LTR retained its pathogenicity at cell culture passage 40. Using polymerase chain analysis, the RM1 LTR insert was detected in MDV isolated from buffy coat cells collected from chickens inoculated with rMd5-RM1-LTR, but only at 1 week post inoculation. The data suggest that the presence of the RM1 LTR insert within MDV genome for 1 week post inoculation with virus at hatch is sufficient to cause a reduction in pathogenicity of strain Md5 of MDV.

  10. The Mechanics of Gross Moist Stability

    Directory of Open Access Journals (Sweden)

    Zeljka Fuchs

    2009-08-01

    Full Text Available The gross moist stability relates the net lateral outflow of moist entropy or moist static energy from an atmospheric convective region to some measure of the strength of the convection in that region. If the gross moist stability can be predicted as a function of the local environmental conditions, then it becomes the key element in understanding how convection is controlled by the large-scale flow. This paper provides a guide to the various ways in which the gross moist stability is defined and the subtleties of its calculation from observations and models. Various theories for the determination of the gross moist stability are presented and its roles in current conceptual models for the tropical atmospheric circulation are analyzed. The possible effect of negative gross moist stability on the development and dynamics of tropical disturbances is currently of great interest.

  11. Synthetic chromosomes.

    Science.gov (United States)

    Schindler, Daniel; Waldminghaus, Torsten

    2015-11-01

    What a living organism looks like and how it works and what are its components-all this is encoded on DNA, the genetic blueprint. Consequently, the way to change an organism is to change its genetic information. Since the first pieces of recombinant DNA have been used to transform cells in the 1970s, this approach has been enormously extended. Bigger and bigger parts of the genetic information have been exchanged or added over the years. Now we are at a point where the construction of entire chromosomes becomes a reachable goal and first examples appear. This development leads to fundamental new questions, for example, about what is possible and desirable to build or what construction rules one needs to follow when building synthetic chromosomes. Here we review the recent progress in the field, discuss current challenges and speculate on the appearance of future synthetic chromosomes.

  12. Artificially inserting a reticuloendotheliosis virus long terminal repeat into a bacterial artificial chromosome clone of Marek's disease virus (MDV) alters expression of nearby MDV genes.

    Science.gov (United States)

    Kim, Taejoong; Mays, Jody; Fadly, Aly; Silva, Robert F

    2011-06-01

    Researchers reported that co-cultivating the JM/102W strain of Marek's disease virus (MDV) with reticuloendotheliosis virus (REV) resulted in an REV long terminal repeat (LTR) being inserted into the internal repeat short (IRS) region of JM/102W. When the resulting recombinant virus was serially passed in cell culture, the initial LTR was duplicated and a second LTR spontaneously appeared in the terminal repeat short (TRS) region of the MDV genome. The virus, designated RM1, was significantly attenuated but still induced severe bursal and thymic atrophy (Isfort et al. PNAS 89:991-995). To determine whether the altered phenotype was due solely to the LTR, we cloned the LTR from the RM1 IRS region and inserted it into the IRS region of a very virulent bacterial artificial clone (BAC) of the Md5 strain of MDV, which we designated rMd5-RM1-LTR. During blind passage in duck embryo fibroblast cultures, the initial LTR in the rMd5-RM1-LTR was also duplicated, with LTRs appearing in both IRS and TRS regions of the MDV genome. The inserted LTR sequences and transcripts associated with the MDV open reading frames MDV085, MDV086, SORF2, US1, and US10 were molecularly characterized. The parental Md5 BAC contains a family of transcripts of 3, 2, and 1 kb that all terminate at the end of the US10 gene. The rMd5-RM1-LTR and RM1 viruses both express an additional 4 kb transcript that originates in the LTR and also terminates after US10. Collectively, the data suggest that our engineered rMd5-RM1-LTR virus very closely resembles the RM1 virus in its structure and transcription patterns.

  13. The future of gross anatomy teaching.

    Science.gov (United States)

    Malamed, S; Seiden, D

    1995-01-01

    A survey of U.S. departments of anatomy, physiology, and biochemistry shows that 39% of the respondent anatomy departments reported declines in the numbers of graduate students taking the human gross anatomy course. Similarly, 42% of the departments reported decreases in the numbers of graduate students teaching human gross anatomy. These decreases were greater in anatomy than in physiology and in biochemistry. The percentages of departments reporting increases in students taking or teaching their courses was 6% for human gross anatomy and 0% to 19% for physiology and biochemistry courses. To reverse this trend the establishment of specific programs for the training of gross anatomy teachers is advocated. These new teachers will be available as the need for them is increasingly recognized in the future.

  14. FUZZY ECCENTRICITY AND GROSS ERROR IDENTIFICATION

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    The dominant and recessive effect made by exceptional interferer is analyzed in measurement system based on responsive character, and the gross error model of fuzzy clustering based on fuzzy relation and fuzzy equipollence relation is built. The concept and calculate formula of fuzzy eccentricity are defined to deduce the evaluation rule and function of gross error, on the base of them, a fuzzy clustering method of separating and discriminating the gross error is found. Utilized in the dynamic circular division measurement system, the method can identify and eliminate gross error in measured data, and reduce measured data dispersity. Experimental results indicate that the use of the method and model enables repetitive precision of the system to improve 80% higher than the foregoing system, to reach 3.5 s, and angle measurement error is less than 7 s.

  15. Validating the Rett Syndrome Gross Motor Scale

    DEFF Research Database (Denmark)

    Downs, Jenny; Stahlhut, Michelle; Wong, Kingsley;

    2016-01-01

    Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this population. The current study investigated...... the validity and reliability of the Rett Syndrome Gross Motor Scale. Video data showing gross motor abilities supplemented with parent report data was collected for 255 girls and women registered with the Australian Rett Syndrome Database, and the factor structure and relationships between motor scores, age...... and genotype were investigated. Clinical assessment scores for 38 girls and women with Rett syndrome who attended the Danish Center for Rett Syndrome were used to assess consistency of measurement. Principal components analysis enabled the calculation of three factor scores: Sitting, Standing and Walking...

  16. Acute lymphoblastic leukemia presenting with gross hematuria

    OpenAIRE

    Kalbani, Naifain Al; Weitzman, Sheila; Abdelhaleem, Mohamed; Carcao, Manuel; Abla, Oussama

    2007-01-01

    A case of a six-year-old boy presenting with gross hematuria is reported. Investigations revealed the etiology of the hematuria to be thrombocytopenia in the setting of newly diagnosed acute lymphoblastic leukemia. The diagnosis of leukemia was confirmed by bone marrow examination. The patient’s hematuria completely resolved with platelet transfusions. Although thrombocytopenia is a very common presenting feature of acute lymphoblastic leukemia, gross hematuria is exceedingly rare. Thus, thro...

  17. Validating the Rett Syndrome Gross Motor Scale.

    Science.gov (United States)

    Downs, Jenny; Stahlhut, Michelle; Wong, Kingsley; Syhler, Birgit; Bisgaard, Anne-Marie; Jacoby, Peter; Leonard, Helen

    2016-01-01

    Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this population. The current study investigated the validity and reliability of the Rett Syndrome Gross Motor Scale. Video data showing gross motor abilities supplemented with parent report data was collected for 255 girls and women registered with the Australian Rett Syndrome Database, and the factor structure and relationships between motor scores, age and genotype were investigated. Clinical assessment scores for 38 girls and women with Rett syndrome who attended the Danish Center for Rett Syndrome were used to assess consistency of measurement. Principal components analysis enabled the calculation of three factor scores: Sitting, Standing and Walking, and Challenge. Motor scores were poorer with increasing age and those with the p.Arg133Cys, p.Arg294* or p.Arg306Cys mutation achieved higher scores than those with a large deletion. The repeatability of clinical assessment was excellent (intraclass correlation coefficient for total score 0.99, 95% CI 0.93-0.98). The standard error of measurement for the total score was 2 points and we would be 95% confident that a change 4 points in the 45-point scale would be greater than within-subject measurement error. The Rett Syndrome Gross Motor Scale could be an appropriate measure of gross motor skills in clinical practice and clinical trials.

  18. Chromosome Analysis

    Science.gov (United States)

    1998-01-01

    Perceptive Scientific Instruments, Inc., provides the foundation for the Powergene line of chromosome analysis and molecular genetic instrumentation. This product employs image processing technology from NASA's Jet Propulsion Laboratory and image enhancement techniques from Johnson Space Center. Originally developed to send pictures back to earth from space probes, digital imaging techniques have been developed and refined for use in a variety of medical applications, including diagnosis of disease.

  19. The genetic alteration of retinoblastoma gene in esophageal cancer

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Jae Il; Shim, Yung Mok; Kim, Chang Min [Korea Cancer Center Hospital of Korea Atomic Energy Research Institute, Taejon (Korea, Republic of)

    1994-12-01

    Retinoblastoma(RB) gene is the prototype of tumor suppressor gene and it`s alteration have been frequently observed in a large number of human tumors. To investigate the role of RB in esophageal cancer, we studied 36 esophageal cancer tissues with Southern blot analysis to detect gross LOH and PCR-SSCP method to find minute LOH and mutation, if any. In the cases with abnormalities, the nucleotide sequence analysis was performed. Allelic loss of chromosome 13q14 occurred in 20 out of 32 informative cases (62.5%) by Southern analysis. Furthermore, PCR-LOH added three positive cases. Mobility shift by PCR-SSCP was observed in one case at exon 22, which showed 1 bp deletion in codon 771 of RB gene resulting in frame shift mutation. Besides, nine PCR-band alteration in tumor tissue compared with normal tissue were observed in exon 14 and 22, but mutation was not found on sequencing analysis suggesting the epigenetic alteration in tumor tissue. Analysis of the clinical data did not show any difference depending upon RB alteration. However, the total incidence of RB gene may play an important role in the development of esophageal cancer. The main genetic alteration of RB gene was deletion detected by Southern blot and one bp deletion leading to frame shift was also observed. 8 figs, 5 tabs. (Author).

  20. Tensor GSVD of Patient- and Platform-Matched Tumor and Normal DNA Copy-Number Profiles Uncovers Chromosome Arm-Wide Patterns of Tumor-Exclusive Platform-Consistent Alterations Encoding for Cell Transformation and Predicting Ovarian Cancer Survival

    Science.gov (United States)

    Sankaranarayanan, Preethi; Schomay, Theodore E.; Aiello, Katherine A.; Alter, Orly

    2015-01-01

    The number of large-scale high-dimensional datasets recording different aspects of a single disease is growing, accompanied by a need for frameworks that can create one coherent model from multiple tensors of matched columns, e.g., patients and platforms, but independent rows, e.g., probes. We define and prove the mathematical properties of a novel tensor generalized singular value decomposition (GSVD), which can simultaneously find the similarities and dissimilarities, i.e., patterns of varying relative significance, between any two such tensors. We demonstrate the tensor GSVD in comparative modeling of patient- and platform-matched but probe-independent ovarian serous cystadenocarcinoma (OV) tumor, mostly high-grade, and normal DNA copy-number profiles, across each chromosome arm, and combination of two arms, separately. The modeling uncovers previously unrecognized patterns of tumor-exclusive platform-consistent co-occurring copy-number alterations (CNAs). We find, first, and validate that each of the patterns across only 7p and Xq, and the combination of 6p+12p, is correlated with a patient’s prognosis, is independent of the tumor’s stage, the best predictor of OV survival to date, and together with stage makes a better predictor than stage alone. Second, these patterns include most known OV-associated CNAs that map to these chromosome arms, as well as several previously unreported, yet frequent focal CNAs. Third, differential mRNA, microRNA, and protein expression consistently map to the DNA CNAs. A coherent picture emerges for each pattern, suggesting roles for the CNAs in OV pathogenesis and personalized therapy. In 6p+12p, deletion of the p21-encoding CDKN1A and p38-encoding MAPK14 and amplification of RAD51AP1 and KRAS encode for human cell transformation, and are correlated with a cell’s immortality, and a patient’s shorter survival time. In 7p, RPA3 deletion and POLD2 amplification are correlated with DNA stability, and a longer survival. In Xq

  1. Tensor GSVD of patient- and platform-matched tumor and normal DNA copy-number profiles uncovers chromosome arm-wide patterns of tumor-exclusive platform-consistent alterations encoding for cell transformation and predicting ovarian cancer survival.

    Directory of Open Access Journals (Sweden)

    Preethi Sankaranarayanan

    Full Text Available The number of large-scale high-dimensional datasets recording different aspects of a single disease is growing, accompanied by a need for frameworks that can create one coherent model from multiple tensors of matched columns, e.g., patients and platforms, but independent rows, e.g., probes. We define and prove the mathematical properties of a novel tensor generalized singular value decomposition (GSVD, which can simultaneously find the similarities and dissimilarities, i.e., patterns of varying relative significance, between any two such tensors. We demonstrate the tensor GSVD in comparative modeling of patient- and platform-matched but probe-independent ovarian serous cystadenocarcinoma (OV tumor, mostly high-grade, and normal DNA copy-number profiles, across each chromosome arm, and combination of two arms, separately. The modeling uncovers previously unrecognized patterns of tumor-exclusive platform-consistent co-occurring copy-number alterations (CNAs. We find, first, and validate that each of the patterns across only 7p and Xq, and the combination of 6p+12p, is correlated with a patient's prognosis, is independent of the tumor's stage, the best predictor of OV survival to date, and together with stage makes a better predictor than stage alone. Second, these patterns include most known OV-associated CNAs that map to these chromosome arms, as well as several previously unreported, yet frequent focal CNAs. Third, differential mRNA, microRNA, and protein expression consistently map to the DNA CNAs. A coherent picture emerges for each pattern, suggesting roles for the CNAs in OV pathogenesis and personalized therapy. In 6p+12p, deletion of the p21-encoding CDKN1A and p38-encoding MAPK14 and amplification of RAD51AP1 and KRAS encode for human cell transformation, and are correlated with a cell's immortality, and a patient's shorter survival time. In 7p, RPA3 deletion and POLD2 amplification are correlated with DNA stability, and a longer survival

  2. Concurrent Validity of Preschooler Gross Motor Quality Scale with Test of Gross Motor Development-2

    Science.gov (United States)

    Sun, Shih-Heng; Sun, Hsiao-Ling; Zhu, Yi-Ching; Huang, Li-chi; Hsieh, Yueh-Ling

    2011-01-01

    Preschooler Gross Motor Quality Scale (PGMQ) was recently developed to evaluate motor skill quality of preschoolers. The purpose of this study was to establish the concurrent validity of PGMQ using Test of Gross Motor Development-2 (TGMD-2) as the gold standard. One hundred and thirty five preschool children aged from three to six years were…

  3. Chromosome engineering: power tools for plant genetics.

    Science.gov (United States)

    Chan, Simon W L

    2010-12-01

    The term "chromosome engineering" describes technologies in which chromosomes are manipulated to change their mode of genetic inheritance. This review examines recent innovations in chromosome engineering that promise to greatly increase the efficiency of plant breeding. Haploid Arabidopsis thaliana have been produced by altering the kinetochore protein CENH3, yielding instant homozygous lines. Haploid production will facilitate reverse breeding, a method that downregulates recombination to ensure progeny contain intact parental chromosomes. Another chromosome engineering success is the conversion of meiosis into mitosis, which produces diploid gametes that are clones of the parent plant. This is a key step in apomixis (asexual reproduction through seeds) and could help to preserve hybrid vigor in the future. New homologous recombination methods in plants will potentiate many chromosome engineering applications. Copyright © 2010 Elsevier Ltd. All rights reserved.

  4. BOREAS HYD-8 Gross Precipitation Data

    Science.gov (United States)

    Fernandes, Richard; Hall, Forrest G. (Editor); Knapp, David E. (Editor); Smith, David E. (Technical Monitor)

    2000-01-01

    The Boreal Ecosystem-Atmosphere Study (BOREAS) Hydrology (HYD)-08 team made measurements of surface hydrological processes at the Southern Study Area-Old Black Spruce (SSA-OBS) Tower Flux site to support its research into point hydrological processes and the spatial variation of these processes. Data collected may be useful in characterizing canopy interception, drip, throughfall, moss interception, drainage, evaporation, and capacity during the growing season at daily temporal resolution. This particular data set contains the gross precipitation measurements for July to August 1996. Gross precipitation is the precipitation that falls that is not intercepted by tree canopies. These data are stored in ASCII text files. The HYD-08 gross precipitation data are available from the Earth Observing System Data and Information System (EOSDIS) Oak Ridge National Laboratory (ORNL) Distributed Active Archive Center (DAAC). The data files are available on a CD-ROM (see document number 20010000884).

  5. Chromosome 19q13 disruption alters expressions of CYP2A7, MIA and MIA-RAB4B lncRNA and contributes to FAP-like phenotype in APC mutation-negative familial colorectal cancer patients.

    Science.gov (United States)

    Thean, Lai Fun; Wong, Yu Hui; Lo, Michelle; Loi, Carol; Chew, Min Hoe; Tang, Choong Leong; Cheah, Peh Yean

    2017-01-01

    Familial adenomatous polyposis (FAP) is an autosomal-dominantly inherited form of colorectal cancer (CRC) caused by mutation in the adenomatous polyposis coli (APC) gene. Our ability to exhaustively screen for APC mutations identify microsatellite-stable and APC-mutation negative familial CRC patients, enabling us to search for novel genes. We performed genome-wide scan on two affected siblings of one family and 88 ethnicity- and gender-matched healthy controls to identify deletions shared by the siblings. Combined loss of heterozygosity, copy number and allelic-specific copy number analysis uncovered 5 shared deletions. Long-range polymerase chain reaction (PCR) confirmed chromosome 19q13 deletion, which was subsequently found in one other family. The 32 kb deleted region harbors the CYP2A7 gene and was enriched with enhancer, repressor and insulator sites. The wildtype allele was lost in the polyps of the proband. Further, real-time RT-PCR assays showed that expressions of MIA and MIA-RAB4B located 35 kb upstream of the deletion, were up-regulated in the polyps compared to the matched mucosa of the proband. MIA-RAB4B, the read-through long non-coding RNA (lncRNA), RAB4B, PIM2 and TAOK1 share common binding site of a microRNA, miR-24, in their 3'UTRs. PIM2 and TAOK1, two target oncogenes of miR-24, were co-ordinately up-regulated with MIA-RAB4B in the polyps, suggesting that MIA-RAB4B could function as competitive endogenous RNA to titrate miR-24 away from its other targets. The data suggest that the 19.13 deletion disrupted chromatin boundary, leading to altered expression of several genes and lncRNA, could contribute to colorectal cancer via novel genetic and epigenetic mechanisms.

  6. 7 CFR 1424.7 - Gross payable units.

    Science.gov (United States)

    2010-01-01

    ...) Biodiesel producers will be eligible for payments on gross payable units for all biodiesel production from... rates. Unless otherwise determined by CCC, gross payable units for biodiesel production from eligible... biodiesel production gross payable units. (3) Adding the APP and BPP to determine biodiesel gross...

  7. Multiregional estimation of gross internal migration flows.

    Science.gov (United States)

    Foot, D K; Milne, W J

    1989-01-01

    "A multiregional model of gross internal migration flows is presented in this article. The interdependence of economic factors across all regions is recognized by imposing a non-stochastic adding-up constraint that requires total inmigration to equal total outmigration in each time period. An iterated system estimation technique is used to obtain asymptotically consistent and efficient parameter estimates. The model is estimated for gross migration flows among the Canadian provinces over the period 1962-86 and then is used to examine the likelihood of a wash-out effect in net migration models. The results indicate that previous approaches that use net migration equations may not always be empirically justified."

  8. The Gross conjecture over rational function fields

    Institute of Scientific and Technical Information of China (English)

    OUYANG; Yi

    2005-01-01

    We study the Gross conjecture for the cyclotomic function field extension k(∧f)/k where k = Fq(t) is the rational function field and f is a monic polynomial in Fq[t].We prove the conjecture in the Fermat curve case(i.e., when f = t(t - 1)) by a direct calculation. We also prove the case when f is irreducible, which is analogous to the Weil reciprocity law. In the general case, we manage to show the weak version of the Gross conjecture here.

  9. Gross Revenue risk in Swiss dairy farming

    NARCIS (Netherlands)

    Benni, El N.; Finger, R.

    2013-01-01

    This study investigated how agricultural policy reforms, including market liberalization and market deregulation, have influenced gross revenue risk of Swiss dairy producers using farm-level panel data between 1990 and 2009. Based on detrended data, variance decomposition was applied to assess how o

  10. Gross Revenue risk in Swiss dairy farming

    NARCIS (Netherlands)

    Benni, El N.; Finger, R.

    2013-01-01

    This study investigated how agricultural policy reforms, including market liberalization and market deregulation, have influenced gross revenue risk of Swiss dairy producers using farm-level panel data between 1990 and 2009. Based on detrended data, variance decomposition was applied to assess how

  11. Verbal priming and taste sensitivity make moral transgressions gross.

    Science.gov (United States)

    Herz, Rachel S

    2014-02-01

    The aims of the present study were to assess whether: (a) visceral and moral disgust share a common oral origin (taste); (b) moral transgressions that are also viscerally involving are evaluated accordingly as a function of individual differences in taste sensitivity; (c) verbal priming interacts with taste sensitivity to alter how disgust is experienced in moral transgressions; and (d) whether gender moderates these effects. Standard tests of disgust sensitivity, a questionnaire developed for this research assessing different types of moral transgressions (nonvisceral, implied-visceral, visceral) with the terms "angry" and "grossed-out," and a taste sensitivity test of 6-n-propylthiouracil (PROP) were administered to 102 participants. Results confirmed past findings that the more sensitive to PROP a participant was the more disgusted they were by visceral, but not moral, disgust elicitors. Importantly, the findings newly revealed that taste sensitivity had no bearing on evaluations of moral transgressions, regardless of their visceral nature, when "angry" was the emotion primed. However, when "grossed-out" was primed for evaluating moral violations, the more intense PROP tasted to a participant the more "grossed-out" they were by all transgressions. Women were generally more disgust sensitive and morally condemning than men, but disgust test, transgression type, and priming scale modulated these effects. The present findings support the proposition that moral and visceral disgust do not share a common oral origin, but show that linguistic priming can transform a moral transgression into a viscerally repulsive event and that susceptibility to this priming varies as a function of an individual's sensitivity to the origins of visceral disgust-bitter taste.

  12. Infrequency of gross skin lesions among Panamanian forest mammals with cutaneous leishmaniasis.

    Science.gov (United States)

    Herrer, A; Christensen, H A

    1975-08-01

    Natural leishmanial infections among feral mammals in the Republic of Panama were studied in relation to gross skin alterations. Three dermatotropic species of Leishmania, L. braziliensis, L. mexicana and L. hertigi, isolated from 230 sylvatic animals of 5 mammalian orders were involved. In 205 (89%) of the cases there were no gross skin alterations. Cryptic infections of all three leishmanial species among wild animals were confirmed by culture and hamster inoculation. This type of infection was always present in the sloths, Choloepus hoffmanni and Bradypus infusatcus, infected with L. braziliensis and in the porcupine, Coendou rothschildi, infected with L. hertigi. Suggestive skin alterations were encountered in 10 (4%) of infected animals. Only 15 (7%) of infected animals exhibited typical leishmanial lesions. It was possible to correlate skin depigmentation with the course of leishmanial infection in one animal, a young kinkajou, Potos flavus.

  13. Activity level of gross α and gross β in airborne aerosol samples around the Qinshan NPP

    Institute of Scientific and Technical Information of China (English)

    CHEN Bin; YE Jida; CHEN Qianyuan; WU Xiaofei; SONG Weili; WANG Hongfeng

    2007-01-01

    The monitoring results of gross α and gross β activity from 2001 to 2005 for environmental airborne aerosol samples around the Qinshan NPP base are presented in this paper. A total of 170 aerosol samples were collected from monitoring sites of Caichenmen village, Qinlian village, Xiajiawan village and Yangliucun village around the Qinshan NPP base. The measured specific activity of gross α and gross β are in the range of 0.02 ~ 0.38 mBq/m3 and 0.10 ~ 1.81 mBq/m3, respectively, with an average of 0.11 mBq/m3 and 0.45mBq/m3, respectively. They are lower than the average of 0.15 mBq/m3 and 0.52mBq/m3, of reference site at Hangzhou City. It is indicated that the specific activity of gross α and gross β for environmental aerosol samples around the Qinshan NPP base had not been increased in normal operating conditions of the NPP.

  14. CHROMOSOME ABNORMALITIES IN INFERTILITY

    Directory of Open Access Journals (Sweden)

    Mateja Smogavec

    2009-08-01

    Conclusions Chromosomal analysis is an important method in diagnostic procedures of infertility, because chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions. Sex chromosome aneuploidies are highly correlated to infertility of females and males.

  15. Noncommutative complex Grosse-Wulkenhaar model

    CERN Document Server

    Hounkonnou, Mahouton Norbert

    2012-01-01

    This paper stands for an application of the noncommutative (NC) Noether theorem, given in our previous work [AIP Proc 956 (2007) 55-60], for the NC complex Grosse-Wulkenhaar model. It provides with an extension of a recent work [Physics Letters B 653 (2007) 343-345]. The local conservation of energy-momentum tensors (EMTs) is recovered using improvement procedures based on Moyal algebraic techniques. Broken dilatation symmetry is discussed. NC gauge currents are also explicitly computed.

  16. The Gross Motor Skills of Children with Mild Learning Disabilities

    Science.gov (United States)

    Nonis, Karen P.; Jernice, Tan Sing Yee

    2014-01-01

    Many international studies have examined the gross motor skills of children studying in special schools while local studies of such nature are limited. This study investigated the gross motor skills of children with Mild Learning Disabilities (MLD; n = 14, M age = 8.93 years, SD = 0.33) with the Test of Gross Motor Development-2 (TGMD-2, Ulrich,…

  17. 7 CFR 1410.44 - Average adjusted gross income.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 10 2010-01-01 2010-01-01 false Average adjusted gross income. 1410.44 Section 1410... Average adjusted gross income. (a) Benefits under this part will not be available to persons or legal entities whose average adjusted gross income exceeds $1,000,000 or as further specified in part...

  18. 7 CFR 701.17 - Average adjusted gross income limitation.

    Science.gov (United States)

    2010-01-01

    ... 9003), each applicant must meet the provisions of the Adjusted Gross Income Limitations at 7 CFR part... 7 Agriculture 7 2010-01-01 2010-01-01 false Average adjusted gross income limitation. 701.17... RELATED PROGRAMS PREVIOUSLY ADMINISTERED UNDER THIS PART § 701.17 Average adjusted gross income...

  19. Undetected sex chromosome aneuploidy by chromosomal microarray.

    Science.gov (United States)

    Markus-Bustani, Keren; Yaron, Yuval; Goldstein, Myriam; Orr-Urtreger, Avi; Ben-Shachar, Shay

    2012-11-01

    We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations. Such a possibility should be taken into consideration in similar cases where CMA is used in a clinical setting.

  20. Baryons in Massive Gross-Neveu Models

    CERN Document Server

    Thies, M; Thies, Michael; Urlichs, Konrad

    2005-01-01

    Baryons in the large N limit of (1+1)-dimensional Gross-Neveu models with either discrete or continuous chiral symmetry have long been known. We generalize their construction to the case where the symmetry is explicitly broken by a bare mass term in the Lagrangian. In the discrete symmetry case, the exact solution is found for arbitrary bare fermion mass, using the Hartree-Fock approach. In the continuous symmetry case, a derivative expansion allows us to rederive a formerly proposed Skyrme-type model and to compute systematically corrections to the leading order description based on an effective sine-Gordon theory.

  1. Cytological conditions in root tip meristem after gross antagonism of phenylmercuric poisoning

    Energy Technology Data Exchange (ETDEWEB)

    MacFarlane, E.W.E.

    1953-01-01

    The dividing cells of onion root tips were protected by yeast extract, glutathione and cysteine in excess against PMOH 3.4 x 10/sup -5/ M which alone caused clumping of chromosomes in an hour's exposure. Spindle inhibition was not eliminated, but in concentrations of PMOH and of PMN near 10/sup -5/ M it was delayed or more rapidly overcome. The effect was similar to an 80 to 95% reduction in the concentration of the mercurials. A day after antagonism of PMOH 3.4 x 10/sup -5/ M with cysteine 8 x 10/sup -4/ M for an hour, a majority of dividing cells showed mitotic abnormalities characteristic of narcotic concentrations of PMOH. A few showed arrest of metaphase chromosomes on the equator as produced by cysteine alone. Successful antagonism of lethal concentrations of PMN in prolonged exposure was accompanied by accumulation of blocked metaphases. Spindle formation was renewed after return to tap water. In all experiments, even when gross effects were practically eliminated by antagonism with thiols, radiomimetic effects (chromosome fragments and chromatic bridges) appeared in dividing cells after exposure. Effective concentrations of all antagonists by themselves caused mitotic and chromosomal abnormalities. 17 references 2 tables.

  2. Nonrandom involvement of chromosomal segments in human hematologic malignancies

    Energy Technology Data Exchange (ETDEWEB)

    Rowley, J. D.

    1977-01-01

    The consistent occurrence of nonrandom chromosome changes in human malignancies suggests that they are not trivial epiphenomena. Whereas we do not understand their significance at present, one possible role which they may fulfill is to provide the chromosomally aberrant cells with a proliferative advantage as the result of alteration of the number and/or location of genes related to nucleic acid biosynthesis. It would be expected that the proliferative advantage provided by various chromosome aberrations differs in patients with different genetic constitutions.

  3. Induced dicentric chromosome formation promotes genomic rearrangements and tumorigenesis

    OpenAIRE

    Gascoigne, Karen E; Cheeseman, Iain M.

    2013-01-01

    Chromosomal rearrangements can radically alter gene products and their function, driving tumor formation or progression. However, the molecular origins and evolution of such rearrangements are varied and poorly understood, with cancer cells often containing multiple, complex rearrangements. One mechanism that can lead to genomic rearrangements is the formation of a “dicentric” chromosome containing two functional centromeres. Indeed, such dicentric chromosomes have been observed in cancer cel...

  4. Chromosome Disorder Outreach

    Science.gov (United States)

    ... BLOG Join Us Donate You are not alone. Chromosome Disorder Outreach, Inc. is a non-profit organization, ... Support For all those diagnosed with any rare chromosome disorder. Since 1992, CDO has supported the parents ...

  5. Chromosome painting in plants.

    NARCIS (Netherlands)

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.

    2001-01-01

    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in si

  6. ZEBRAFISH CHROMOSOME-BANDING

    NARCIS (Netherlands)

    PIJNACKER, LP; FERWERDA, MA

    1995-01-01

    Banding techniques were carried out on metaphase chromosomes of zebrafish (Danio rerio) embryos. The karyotypes with the longest chromosomes consist of 12 metacentrics, 26 submetacentrics, and 12 subtelocentrics (2n = 50). All centromeres are C-band positive. Eight chromosomes have a pericentric C-b

  7. Chromosome painting in plants.

    NARCIS (Netherlands)

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.

    2001-01-01

    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in

  8. Cytological alteration of cultured rat liver cells by 3'-methyl-4-dimethylaminoazobenzene with special reference to chromosome changes, changes of growth patterns at a colony level and alpha-fetoprotein production.

    Directory of Open Access Journals (Sweden)

    Tokiwa,Takayoshi

    1980-06-01

    Full Text Available A near diploid clone derived from a rat liver cell line was continuously treated with various concentrations of 3'-methyl-4-dimethylaminoazobenzene (3'-Me-DAB in culture. By treatment with 2.8 micrograms/ml, cells with 41 chromosomes formed a mode and which then shifted to 39. The chromosome numbers of cells treated with 5.4 micrograms/ml were widely distributed at early stages, but later the mode shifted to hypotetraploid region. Untreated control cells were confirmed as near diploid. Increased plating efficiency by 3'-Me-DAB as well as the appearance of large sized colonies was obtained. The production of alpha-fetoprotein (AFP by the cells was slightly enhanced by treatment with 3'-Me-DAB. The cells treated with and without 3'-Me-DAB did not produce any tumor in rats 6 months after their intraperitoneal injection.

  9. [Gross anatomy dissection and the legal control].

    Science.gov (United States)

    Yamashina, Shohei; Shibata, Yosaburo

    2010-12-01

    In Japan, dissection of human body is generally prohibited by the Penal Code, i.e. the criminal law. However, the Postmortem Examination and Corpse Preservation Act allows for the dissection of the body in very limited situations, that include gross anatomy dissection and pathological and forensic autopsy in medical and dental schools. Growing numbers of co-medical schools have been founded more recently in Japan, and not a small number of co-medical schools try to adopt human body dissection in the course of anatomy education. The present short communication reminds us of the ways of thinking of the Postmortem Examination and Corpse Preservation Act and the Act on Body Donation for Medical and Dental Education in order that anatomy education in medical as well as co-medical schools takes place under the regulation by these two laws.

  10. Mapping strategies: Chromosome 16 workshop

    Energy Technology Data Exchange (ETDEWEB)

    1989-01-01

    The following topics from a workshop on chromosome 16 are briefly discussed: genetic map of chromosome 16; chromosome breakpoint map of chromosome 16; integrated physical/genetic map of chromosome 16; pulsed field map of the 16p13.2--p13.3 region (3 sheets); and a report of the HGM10 chromosome 16 committee.

  11. Engineering of plant chromosomes.

    Science.gov (United States)

    Mette, Michael Florian; Houben, Andreas

    2015-02-01

    Engineered minimal chromosomes with sufficient mitotic and meiotic stability have an enormous potential as vectors for stacking multiple genes required for complex traits in plant biotechnology. Proof of principle for essential steps in chromosome engineering such as truncation of chromosomes by T-DNA-mediated telomere seeding and de novo formation of centromeres by cenH3 fusion protein tethering has been recently obtained. In order to generate robust protocols for application in plant biotechnology, these steps need to be combined and supplemented with additional methods such as site-specific recombination for the directed transfer of multiple genes of interest on the minichromosomes. At the same time, the development of these methods allows new insight into basic aspects of plant chromosome functions such as how centromeres assure proper distribution of chromosomes to daughter cells or how telomeres serve to cap the chromosome ends to prevent shortening of ends over DNA replication cycles and chromosome end fusion.

  12. Robust Principal Component Test in Gross Error Detection and Identification

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Principle component analysis (PCA) based chi-square test is more sensitive to subtle gross errors and has greater power to correctly detect gross errors than classical chi-square test. However, classical principal component test (PCT) is non-robust and can be very sensitive to one or more outliers. In this paper, a Huber function liked robust weight factor was added in the collective chi-square test to eliminate the influence of gross errors on the PCT. Meanwhile, robust chi-square test was applied to modified simultaneous estimation of gross error (MSEGE) strategy to detect and identify multiple gross errors. Simulation results show that the proposed robust test can reduce the possibility of type Ⅱ errors effectively. Adding robust chi-square test into MSEGE does not obviously improve the power of multiple gross error identification, the proposed approach considers the influence of outliers on hypothesis statistic test and is more reasonable.

  13. Effect of temperate climate tree species on gross ammonification, gross nitrification and N2O formation

    Science.gov (United States)

    Brüggemann, N.; Rosenkranz, P.; Papen, H.; Butterbach-Bahl, K.

    2003-04-01

    Microbial nitrogen turnover processes in the soil, like ammonification, nitrification and denitrification, play an important role in the formation of nitrous oxide (N2O): (i) ammonification, because it releases nitrogen from organic material in the form of ammonium (NH4+), which in turn can serve as substrate for nitrification; (ii) nitrification itself (i.e. the turnover of NH4+ to nitrate, NO3-), during which nitric oxide (NO) and N2O can be released as by-products at varying ratios; (iii) denitrification, in which NO3- serves as electron acceptor and is converted to molecular nitrogen (N2) via NO and N2O as intermediates, that can also be partially lost to the atmosphere. Temperate forest soils are a substantial source of atmospheric N2O contributing up to 10% to the total atmospheric N2O budget. However, this figure is afflicted with a huge uncertainty due to a number of factors governing the soil N2O formation, consumption, release and uptake, which are not fully understood at present. To one of these factors belongs the influence of the tree species on nitrogen turnover processes in the soil and the formation of N trace gases related with them. The aim of the present work was to analyse this tree species effect for the temperate climate region. For this purpose the effect of five different temperate tree species, having the same age and growing on the same soil in direct vicinity to each other, on gross ammonification and gross nitrification as well as on N2O formation was investigated. The trees (common beech, Fagus sylvatica; pedunculate oak, Quercus robur; Norway spruce, Picea abies; Japanese larch, Larix leptolepis; mountain pine, Pinus mugo) were part of a species trial in Western Jutland, Denmark, established in 1965 on a former sandy heathland. Samples from the soil under these five tree species were taken in spring and in summer 2002, respectively, differentiating between organic layer and mineral soil. The gross rates of ammonification as well of

  14. Induced dicentric chromosome formation promotes genomic rearrangements and tumorigenesis.

    Science.gov (United States)

    Gascoigne, Karen E; Cheeseman, Iain M

    2013-07-01

    Chromosomal rearrangements can radically alter gene products and their function, driving tumor formation or progression. However, the molecular origins and evolution of such rearrangements are varied and poorly understood, with cancer cells often containing multiple, complex rearrangements. One mechanism that can lead to genomic rearrangements is the formation of a "dicentric" chromosome containing two functional centromeres. Indeed, such dicentric chromosomes have been observed in cancer cells. Here, we tested the ability of a single dicentric chromosome to contribute to genomic instability and neoplastic conversion in vertebrate cells. We developed a system to transiently and reversibly induce dicentric chromosome formation on a single chromosome with high temporal control. We find that induced dicentric chromosomes are frequently damaged and mis-segregated during mitosis, and that this leads to extensive chromosomal rearrangements including translocations with other chromosomes. Populations of pre-neoplastic cells in which a single dicentric chromosome is induced acquire extensive genomic instability and display hallmarks of cellular transformation including anchorage-independent growth in soft agar. Our results suggest that a single dicentric chromosome could contribute to tumor initiation.

  15. Effects of hepatitis B virus infection on human sperm chromosomes

    Institute of Scientific and Technical Information of China (English)

    Jian-Min Huang; Tian-Hua Huang; Huan-Ying Qiu; Xiao-Wu Fang; Tian-Gang Zhuang; Hong-Xi Liu; Yong-Hua Wang; Li-Zhi Deng; Jie-Wen Qiu

    2003-01-01

    AIM: To evaluate the level of sperm chromosome aberrations in male patients with hepatitis B, and to directly detect whether there are HBV DNA integrations in sperm chromosomes of hepatitis B patients.METHODS: Sperm chromosomes of 14 tested subjects (5healthy controls, 9 patients with HBV infection, including 1with acute hepatitis B, 2 with chronic active hepatitis B, 4with chronic persistent hepatitis B, 2 chronic HBsAg carriers with no clinical symptoms) were prepared using interspecific in vitro fertilization between zona-free golden hamster ova and human spermatozoa, and the frequencies of aberration spermatozoa were compared between subjects of HBV infection and controls. Fluorescence in situ hybridization (FISH) to sperm chromosome spreads was carried out with biotin-labeled full length HBV DNA probe to detect the specific HBV DNA sequences in the sperm chromosomes.RESULTS: The total frequency of sperm chromosome aberrations in HBV infection group (14.8%, 33/223) was significantly higher than that in the control group (4.3%,5/116). Moreover, the sperm chromosomes in HBV infection patients commonly presented stickiness, clumping, failure to staining, etc, which would affect the analysis of sperm chromosomes. Specific fluorescent signal spots for HBV DNA were seen in sperm chromosomes of one patient with chronic persistent hepatitis. In 9 (9/42) sperm chromosome complements containing fluorescent signal spots, one presented 5 obvious FISH spots, others presented 2 to 4signals. There was significant difference of fluorescence intensity among the signal spots. The distribution of signal sites among chromosomes was random.CONCLUSION: HBV infection can bring about mutagenic effects on sperm chromosomes. Integrations of viral DNA into sperm chromosomes which are multisites and nonspecific, can further increase the instability of sperm chromosomes. This study suggested that HBV infection can create extensively hereditary effects by alteration genetic constituent and

  16. Chromosomal instability in meningiomas.

    Science.gov (United States)

    van Tilborg, Angela A G; Al Allak, Bushra; Velthuizen, Sandra C J M; de Vries, Annie; Kros, Johan M; Avezaat, Cees J J; de Klein, Annelies; Beverloo, H Berna; Zwarthoff, Ellen C

    2005-04-01

    Approximately 60% of sporadic meningiomas are caused by inactivation of the NF2 tumor suppressor gene on chromosome 22. No causative gene is known for the remaining 40%. Cytogenetic analysis shows that meningiomas caused by inactivation of the NF2 gene can be divided into tumors that show monosomy 22 as the sole abnormality and tumors with a more complex karyotype. Meningiomas not caused by the NF2 gene usually have a diploid karyotype. Here we report that, besides the clonal chromosomal aberrations, the chromosome numbers in many meningiomas varied from one metaphase spread to the other, a feature that is indicative of chromosomal instability. Unexpectedly and regardless of genotype, a subgroup of tumors was observed with an average number of 44.9 chromosomes and little variation in the number of chromosomes per metaphase spread. In addition, a second subgroup was recognized with a hyperdiploid number of chromosomes (average 48.5) and considerable variation in numbers per metaphase. However, this numerical instability resulted in a clonal karyotype with chromosomal gains and losses in addition to loss of chromosome 22 only in meningiomas caused by inactivation of the NF2 gene. In cultured cells of all tumor groups, bi- and multinucleated cells were seen, as well as anaphase bridges, residual chromatid strings, multiple spindle poles, and unseparated chromatids, suggesting defects in the mitotic apparatus or kinetochore. Thus, we conclude that even a benign and slow-growing tumor like a meningioma displays chromosomal instability.

  17. Rapid generation of region-specific probes by chromosome microdissection: Application to the identification of chromosomal rearrangements

    Energy Technology Data Exchange (ETDEWEB)

    Trent, J.M.; Guan, X.Y.; Zang, J.; Meltzer, P.S. (Univ. of Michigan, Ann Arbor (United States))

    1993-01-01

    The authors present results using a novel strategy for chromosome microdissection and direct in vitro amplification of specific chromosomal regions, to identify cryptic chromosome alterations, and to rapidly generate region-specific genomic probes. First, banded chromosomes are microdissected and directly PCR amplified by a procedure which eliminates microchemistry (Meltzer, et al., Nature Genetics, 1:24, 1992). The resulting PCR product can be used for several applications including direct labeling for fluorescent in situ hybridization (FISH) to normal metaphase chromosomes. A second application of this procedure is the extremely rapid generation of chromosome region-specific probes. This approach has been successfully used to determine the derivation of chromosome segments unidentifiable by standard chromosome banding analysis. In selected instances these probes have also been used on interphase nuclei and provides the potential for assessing chromosome abnormalities in a variety of cell lineages. The microdissection probes (which can be generated in <24 hours) have also been utilized in direct library screening and provide the possibility of acquiring a significant number of region-specific probes for any chromosome band. This procedure extends the limits of conventional cytogenetic analysis by providing an extremely rapid source of numerous band-specific probes, and by enabling the direct analysis of essentially any unknown chromosome region.

  18. Analysis of plant meiotic chromosomes by chromosome painting.

    Science.gov (United States)

    Lysak, Martin A; Mandáková, Terezie

    2013-01-01

    Chromosome painting (CP) refers to visualization of large chromosome regions, entire chromosome arms, or entire chromosomes via fluorescence in situ hybridization (FISH). For CP in plants, contigs of chromosome-specific bacterial artificial chromosomes (BAC) from the target species or from a closely related species (comparative chromosome painting, CCP) are typically applied as painting probes. Extended pachytene chromosomes provide the highest resolution of CP in plants. CP enables identification and tracing of particular chromosome regions and/or entire chromosomes throughout all meiotic stages as well as corresponding chromosome territories in premeiotic interphase nuclei. Meiotic pairing and structural chromosome rearrangements (typically inversions and translocations) can be identified by CP. Here, we describe step-by-step protocols of CP and CCP in plant species including chromosome preparation, BAC DNA labeling, and multicolor FISH.

  19. Gross revenue risk in Swiss dairy farming.

    Science.gov (United States)

    El Benni, N; Finger, R

    2013-02-01

    This study investigated how agricultural policy reforms, including market liberalization and market deregulation, have influenced gross revenue risk of Swiss dairy producers using farm-level panel data between 1990 and 2009. Based on detrended data, variance decomposition was applied to assess how output prices and yields contributed to revenue risk over 3 different periods: the whole period (1990-2009), the first decade (1990-1999), and the second decade (1999-2009). In addition, the effect of expected changes in animal-based support for roughage-consuming cattle and price volatility on revenue risk was evaluated using a simulation model. Prices were the main contributor to revenue risk, even if the importance of yield risk increased over time. Swiss dairy producers can profit from natural hedge but market deregulation and market liberalization have reduced the natural hedge at the farm level. An increase in price volatility would substantially increase revenue risk and would, together with the abandonment of direct payments, reduce the comparative advantage of dairy production for risk-averse decision makers. Depending on other available risk management strategies, price risk management instruments might be a valuable solution for Swiss dairy producers in the future.

  20. Mechanisms for chromosome segregation.

    Science.gov (United States)

    Bouet, Jean-Yves; Stouf, Mathieu; Lebailly, Elise; Cornet, François

    2014-12-01

    Bacteria face the problem of segregating their gigantic chromosomes without a segregation period restricted in time and space, as Eukaryotes do. Segregation thus involves multiple activities, general or specific of a chromosome region and differentially controlled. Recent advances show that these various mechanisms conform to a “pair and release” rule, which appears as a general rule in DNA segregation. We describe the latest advances in segregation of bacterial chromosomes with emphasis on the different pair and release mechanisms.

  1. The Precarious Prokaryotic Chromosome

    OpenAIRE

    Kuzminov, Andrei

    2014-01-01

    Evolutionary selection for optimal genome preservation, replication, and expression should yield similar chromosome organizations in any type of cells. And yet, the chromosome organization is surprisingly different between eukaryotes and prokaryotes. The nuclear versus cytoplasmic accommodation of genetic material accounts for the distinct eukaryotic and prokaryotic modes of genome evolution, but it falls short of explaining the differences in the chromosome organization. I propose that the t...

  2. Chromosome oscillations in mitosis

    Science.gov (United States)

    Campas, Otger

    2008-03-01

    Successful cell division necessitates a tight regulation of chromosome movement via the activity of molecular motors. Many of the key players at the origin of the forces generating the motion have been identified, but their spatial and temporal organization remains elusive. In animal cells, chromosomes periodically switch between phases of movement towards and away from the pole. This characteristic oscillatory behaviour cannot be explained by the current models of chromosome positioning and congression. We perform a self-contained theoretical analysis in which the motion of mono-oriented chromosomes results from the competition between the activity of the kinetochore and chromokinesin motors on the chromosome arms. Our analysis, consistent with the available experimental data, proposes that the interplay between the aster-like morphology of the spindle and the collective kinetics of molecular motors is at the origin of chromosome oscillations, positioning and congression. It provides a natural explanation for the so-called chromosome directional instability and for the mechanism by which chromosomes sense their position in space. In addition, we estimate the in vivo velocity of chromokinesins at vanishing load and propose new experiments to assess the mechanism at the origin of chromosome movement in cell division.

  3. Bacterial chromosome segregation.

    Science.gov (United States)

    Possoz, Christophe; Junier, Ivan; Espeli, Olivier

    2012-01-01

    Dividing cells have mechanisms to ensure that their genomes are faithfully segregated into daughter cells. In bacteria, the description of these mechanisms has been considerably improved in the recent years. This review focuses on the different aspects of bacterial chromosome segregation that can be understood thanks to the studies performed with model organisms: Escherichia coli, Bacillus subtilis, Caulobacter crescentus and Vibrio cholerae. We describe the global positionning of the nucleoid in the cell and the specific localization and dynamics of different chromosomal loci, kinetic and biophysic aspects of chromosome segregation are presented. Finally, a presentation of the key proteins involved in the chromosome segregation is made.

  4. Guidelines for Standard Photography in Gross and Clinical Anatomy

    Science.gov (United States)

    Barut, Cagatay; Ertilav, Hakan

    2011-01-01

    Photography has a widespread usage in medicine and anatomy. In this review, authors focused on the usage of photography in gross and clinical anatomy. Photography in gross and clinical anatomy is not only essential for accurate documentation of morphological findings but also important in sharing knowledge and experience. Photographs of cadavers…

  5. 26 CFR 1.61-4 - Gross income of farmers.

    Science.gov (United States)

    2010-04-01

    ... Gross income of farmers. (a) Farmers using the cash method of accounting. A farmer using the cash receipts and disbursements method of accounting shall include in his gross income for the taxable year— (1) The amount of cash and the value of merchandise or other property received during the taxable...

  6. Guidelines for Standard Photography in Gross and Clinical Anatomy

    Science.gov (United States)

    Barut, Cagatay; Ertilav, Hakan

    2011-01-01

    Photography has a widespread usage in medicine and anatomy. In this review, authors focused on the usage of photography in gross and clinical anatomy. Photography in gross and clinical anatomy is not only essential for accurate documentation of morphological findings but also important in sharing knowledge and experience. Photographs of cadavers…

  7. Psychiatric Symptoms in Children with Gross Motor Problems

    Science.gov (United States)

    Emck, Claudia; Bosscher, Ruud J.; van Wieringen, Piet C. W.; Doreleijers, Theo; Beek, Peter J.

    2012-01-01

    Children with psychiatric disorders often demonstrate gross motor problems. This study investigates if the reverse also holds true by assessing psychiatric symptoms present in children with gross motor problems. Emotional, behavioral, and autism spectrum disorders (ASD), as well as psychosocial problems, were assessed in a sample of 40 children…

  8. The Gross Anatomy Course: An Analysis of Its Importance

    Science.gov (United States)

    Bockers, Anja; Jerg-Bretzke, Lucia; Lamp, Christoph; Brinkmann, Anke; Traue, Harald C.; Bockers, Tobias M.

    2010-01-01

    The gross anatomy dissection course is a cost-intensive piece of undergraduate medical education that students and professionals alike describe as very important within the overall medical curriculum. We sought to understand more explicitly students' valuation of gross anatomy as an "important" course and so developed a quantitative…

  9. Chromosomal aberrations and aneuploidies of spermatozoa.

    Science.gov (United States)

    Piomboni, Paola; Stendardi, Anita; Gambera, Laura

    2014-01-01

    Chromosomal abnormalities are relevant causes of human infertility, affecting 2 -14 % of infertile males. Patients with seminal anomalies could be affected by improper meiotic recombination and increased sperm chromosome aneuploidy. Since the transmission of a haploid chromosomal asset is fundamental for embryo vitality and development, the study of sperm chromosomes has become fundamental because intracytoplasmic sperm injection allows fertilization in cases of severe male infertility.In this chapter we summarize the data on the incidence of sperm aneuploidy, detected by fluorescence in situ hybridization (FISH), in infertile men with normal or abnormal karyotype. The possibility of reducing sperm chromosomal imbalance is also reported.Among control males, the lowest aneuploidy rate was detected (range: 0.09 -0.14 % for autosomes; 0.04 -0.10 % for gonosomes). In infertile patients with normal karyotype, the severity of semen alteration is correlated with the frequency of aneuploidy, particularly for X and Y chromosomes. Among patients with abnormal karyotype, 47,XXY and 47,XYY carriers showed a high variability of sperm aneuploidy both for gonosomes and autosomes. In Robertsonian translocation carriers, the increase in aneuploidy rate was particularly evident for total sex disomy, and resulted mainly from interchromosomal effect (ICE). In reciprocal translocation carriers, a high percentage of unbalanced sperm (approximately 50 %) was detected, perhaps mostly related to ICE.Sperm chromosomal constitution could be analyzed to obtain more accurate information about the causes of male infertility. It would be worthwhile to evaluate the benefits of a therapy with recombinant Follicle Stimulating Hormone (rFSH) on sperm chromosome segregation in selected infertile males.

  10. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...... with women without elevated risk. Spontaneous abortion rate and prematurity rate did not differ from rates expected without amniocentesis. It is concluded that current indications may be characterized as a mixture of evident high risk factors and factors with only a minor influence on risk. Indications...

  11. Cytogenetic Analysis for Suspected Chromosomal Abnormalities; A Five Years Experience

    Science.gov (United States)

    Karra, Vijay Kumar; Jindal, Ankur; Puppala, Madhavi; Singh, Pratiksha; Rawat, Kanchan; Kapoor, Seema

    2016-01-01

    Introduction Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. Aim The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis. Materials and Methods Total of 859 patients ranging from newborn to 37 years of age were referred to the division of genetics, Department of Paediatrics between 2010 and 2015, with a variety of clinical disorders; Down syndrome (DS), Turner’s syndrome (TS) and Klinefelter syndrome; amenorrhea; ambiguous sex and multiple congenital malformations. Chromosomal analysis was performed on lymphocyte culture according to standard methods. Results Of the 859 cases studied, 371 (43.1%) had chromosomal abnormalities. The most common autosomal abnormalities were DS 302 (81.4%) and sex chromosomal abnormalities were TS 51 (13.7%). Numerical abnormalities were accounted for 353 (41.0%) and structural abnormalities 18 (2.0%), respectively. Various other chromosomal anomalies were also reported. Conclusion We have reviewed the incidence and distribution of chromosomal abnormalities and found higher rate of chromosomal abnormalities 43.1% in the referred cases. Our data suggest that chromosomal analysis is important tool in the evaluation of genetic disorders and helps clinicians to provide accurate diagnosis and proper genetic counselling. PMID:27790464

  12. XYY chromosome anomaly and schizophrenia.

    Science.gov (United States)

    Rajagopalan, M; MacBeth, R; Varma, S L

    1998-02-07

    Sex chromosome anomalies have been associated with psychoses, and most of the evidence is linked to the presence of an additional X chromosome. We report a patient with XYY chromosome anomaly who developed schizophrenia.

  13. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli

    2014-01-01

    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two chromoso...

  14. Estimating the gross moist stability in shallow and deep convection

    Science.gov (United States)

    Chen, C. A.; Jong, B. T.; Chou, C.

    2015-12-01

    Gross moist stability has been used to study the link between tropical deep convection and large scale circulation in a moist static energy (MSE) budget. Here we aim to calculate the gross moist stability from more realistic profiles of vertical velocity and extend it beyond deep convection, adding shallow convection. Based on a principal component analysis, we were able to decompose the vertical velocity into two leading modes, which are dominated by deep and shallow convection, respectively. According to the deep and shallow modes, we calculate the gross moist stability for these two modes and discuss the roles of deep and shallow convection in the MSE budget. The gross moist stability of deep convection tends to be positive in the tropics, while that of shallow convection is negative over most areas of the tropics. This implies that deep convection exports MSE to stabilize the atmosphere and shallow convection imports MSE to enhance deep convection and destabilize the atmosphere. Based on the spatial distribution, moisture tends to reduce the gross moist stability of deep convection, while dry static energy has little impact. Deeper deep convection tends to have greater gross moist stability. For shallow convection, on the other hand, the gross moist stability is affected not only by low-level moisture but also mid-level moisture. Both moister low-level and drier mid-level moisture reduce the gross moist stability of shallow convection. Greater low-level dry static energy, which is associated with warmer sea surface temperature, also tends to reduce gross moist stability.

  15. Strategies for cloning and manipulating natural and synthetic chromosomes.

    Science.gov (United States)

    Karas, Bogumil J; Suzuki, Yo; Weyman, Philip D

    2015-02-01

    Advances in synthetic biology methods to assemble and edit DNA are enabling genome engineering at a previously impracticable scale and scope. The synthesis of the Mycoplasma mycoides genome followed by its transplantation to convert a related cell into M. mycoides has transformed strain engineering. This approach exemplifies the combination of newly emerging chromosome-scale genome editing strategies that can be defined in three main steps: (1) chromosome acquisition into a microbial engineering platform, (2) alteration and improvement of the acquired chromosome, and (3) installation of the modified chromosome into the original or alternative organism. In this review, we outline recent progress in methods for acquiring chromosomes and chromosome-scale DNA molecules in the workhorse organisms Bacillus subtilis, Escherichia coli, and Saccharomyces cerevisiae. We present overviews of important genetic strategies and tools for each of the three organisms, point out their respective strengths and weaknesses, and highlight how the host systems can be used in combination to facilitate chromosome assembly or engineering. Finally, we highlight efforts for the installation of the cloned/altered chromosomes or fragments into the target organism and present remaining challenges in expanding this powerful experimental approach to a wider range of target organisms.

  16. Extreme events in gross primary production: a characterization across continents

    Directory of Open Access Journals (Sweden)

    J. Zscheischler

    2014-01-01

    Full Text Available Climate extremes can affect the functioning of terrestrial ecosystems, for instance via a reduction of the photosynthetic capacity or alterations of respiratory processes. Yet the dominant regional and seasonal effects of hydrometeorological extremes are still not well documented. Here we quantify and characterize the role of large spatiotemporal extreme events in gross primary production (GPP as triggers of continental anomalies. We also investigate seasonal dynamics of extreme impacts on continental GPP anomalies. We find that the 50 largest positive (increase in uptake and negative extremes (decrease in uptake on each continent can explain most of the continental variation in GPP, which is in line with previous results obtained at the global scale. We show that negative extremes are larger than positive ones and demonstrate that this asymmetry is particularly strong in South America and Europe. Most extremes in GPP start in early summer. Our analysis indicates that the overall impacts and the spatial extents of GPP extremes are power law distributed with exponents that vary little across continents. Moreover, we show that on all continents and for all data sets the spatial extents play a more important role than durations or maximal GPP anomaly when it comes to the overall impact of GPP extremes. An analysis of possible causes implies that across continents most extremes in GPP can best be explained by water scarcity rather than by extreme temperatures. However, for Europe, South America and Oceania we identify also fire as an important driver. Our findings are consistent with remote sensing products. An independent validation against a literature survey on specific extreme events supports our results to a large extent.

  17. Chromosomal mosaicism goes global

    Directory of Open Access Journals (Sweden)

    Yurov Yuri B

    2008-11-01

    Full Text Available Intercellular differences of chromosomal content in the same individual are defined as chromosomal mosaicism (alias intercellular or somatic genomic variations or, in a number of publications, mosaic aneuploidy. It has long been suggested that this phenomenon poorly contributes both to intercellular (interindividual diversity and to human disease. However, our views have recently become to change due to a series of communications demonstrated a higher incidence of chromosomal mosaicism in diseased individuals (major psychiatric disorders and autoimmune diseases as well as depicted chromosomal mosaicism contribution to genetic diversity, the central nervous system development, and aging. The later has been produced by significant achievements in the field of molecular cytogenetics. Recently, Molecular Cytogenetics has published an article by Maj Hulten and colleagues that has provided evidences for chromosomal mosaicism to underlie formation of germline aneuploidy in human female gametes using trisomy 21 (Down syndrome as a model. Since meiotic aneuploidy is suggested to be the leading genetic cause of human prenatal mortality and postnatal morbidity, these data together with previous findings define chromosomal mosaicism not as a casual finding during cytogenetic analyses but as a more significant biological phenomenon than previously recognized. Finally, the significance of chromosomal mosaicism can be drawn from the fact, that this phenomenon is involved in genetic diversity, normal and abnormal prenatal development, human diseases, aging, and meiotic aneuploidy, the intrinsic cause of which remains, as yet, unknown.

  18. Sequential cloning of chromosomes

    Science.gov (United States)

    Lacks, S.A.

    1995-07-18

    A method for sequential cloning of chromosomal DNA of a target organism is disclosed. A first DNA segment homologous to the chromosomal DNA to be sequentially cloned is isolated. The first segment has a first restriction enzyme site on either side. A first vector product is formed by ligating the homologous segment into a suitably designed vector. The first vector product is circularly integrated into the target organism`s chromosomal DNA. The resulting integrated chromosomal DNA segment includes the homologous DNA segment at either end of the integrated vector segment. The integrated chromosomal DNA is cleaved with a second restriction enzyme and ligated to form a vector-containing plasmid, which is replicated in a host organism. The replicated plasmid is then cleaved with the first restriction enzyme. Next, a DNA segment containing the vector and a segment of DNA homologous to a distal portion of the previously isolated DNA segment is isolated. This segment is then ligated to form a plasmid which is replicated within a suitable host. This plasmid is then circularly integrated into the target chromosomal DNA. The chromosomal DNA containing the circularly integrated vector is treated with a third, retrorestriction (class IIS) enzyme. The cleaved DNA is ligated to give a plasmid that is used to transform a host permissive for replication of its vector. The sequential cloning process continues by repeated cycles of circular integration and excision. The excision is carried out alternately with the second and third enzymes. 9 figs.

  19. Sequential cloning of chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Lacks, S.A.

    1991-12-31

    A method for sequential cloning of chromosomal DNA and chromosomal DNA cloned by this method are disclosed. The method includes the selection of a target organism having a segment of chromosomal DNA to be sequentially cloned. A first DNA segment, having a first restriction enzyme site on either side. homologous to the chromosomal DNA to be sequentially cloned is isolated. A first vector product is formed by ligating the homologous segment into a suitably designed vector. The first vector product is circularly integrated into the target organism`s chromosomal DNA. The resulting integrated chromosomal DNA segment includes the homologous DNA segment at either end of the integrated vector segment. The integrated chromosomal DNA is cleaved with a second restriction enzyme and ligated to form a vector-containing plasmid, which is replicated in a host organism. The replicated plasmid is then cleaved with the first restriction enzyme. Next, a DNA segment containing the vector and a segment of DNA homologous to a distal portion of the previously isolated DNA segment is isolated. This segment is then ligated to form a plasmid which is replicated within a suitable host. This plasmid is then circularly integrated into the target chromosomal DNA. The chromosomal DNA containing the circularly integrated vector is treated with a third, retrorestriction enzyme. The cleaved DNA is ligated to give a plasmid that is used to transform a host permissive for replication of its vector. The sequential cloning process continues by repeated cycles of circular integration and excision. The excision is carried out alternately with the second and third enzymes.

  20. CHROMOSOMES OF AMERICAN MARSUPIALS.

    Science.gov (United States)

    BIGGERS, J D; FRITZ, H I; HARE, W C; MCFEELY, R A

    1965-06-18

    Studies of the chromosomes of four American marsupials demonstrated that Caluromys derbianus and Marmosa mexicana have a diploid number of 14 chromosomes, and that Philander opossum and Didelphis marsupialis have a diploid number of 22. The karyotypes of C. derbianus and M. mexicana are similar, whereas those of P. opossum and D. marsupialis are dissimilar. If the 14-chromosome karyotype represents a reduction from a primitive number of 22, these observations suggest that the change has occurred independently in the American and Australasian forms.

  1. Sectoral contributions to Nigerian gross domestic product using a ...

    African Journals Online (AJOL)

    Global Journal of Pure and Applied Sciences ... This study analyzed sectoral contributions to Gross Domestic Product by Agriculture, Industry and services ... KEYWORDS: Granger causality, Unit root, VAR model and sectoral contribution ...

  2. The Consequences of Chromosome Segregation Errors in Mitosis and Meiosis

    Directory of Open Access Journals (Sweden)

    Tamara Potapova

    2017-02-01

    Full Text Available Mistakes during cell division frequently generate changes in chromosome content, producing aneuploid or polyploid progeny cells. Polyploid cells may then undergo abnormal division to generate aneuploid cells. Chromosome segregation errors may also involve fragments of whole chromosomes. A major consequence of segregation defects is change in the relative dosage of products from genes located on the missegregated chromosomes. Abnormal expression of transcriptional regulators can also impact genes on the properly segregated chromosomes. The consequences of these perturbations in gene expression depend on the specific chromosomes affected and on the interplay of the aneuploid phenotype with the environment. Most often, these novel chromosome distributions are detrimental to the health and survival of the organism. However, in a changed environment, alterations in gene copy number may generate a more highly adapted phenotype. Chromosome segregation errors also have important implications in human health. They may promote drug resistance in pathogenic microorganisms. In cancer cells, they are a source for genetic and phenotypic variability that may select for populations with increased malignance and resistance to therapy. Lastly, chromosome segregation errors during gamete formation in meiosis are a primary cause of human birth defects and infertility. This review describes the consequences of mitotic and meiotic errors focusing on novel concepts and human health.

  3. Premedical anatomy experience and student performance in medical gross anatomy.

    Science.gov (United States)

    Kondrashov, Peter; McDaniel, Dalton J; Jordan, Rebecca M

    2017-04-01

    Gross anatomy is considered one of the most important basic science courses in medical education, yet few medical schools require its completion prior to matriculation. The effect of taking anatomy courses before entering medical school on performance in medical gross anatomy has been previously studied with inconsistent results. The effect of premedical anatomy coursework on performance in medical gross anatomy, overall medical school grade point average (GPA), and Comprehensive Osteopathic Medical Licensing Examination Level 1 (COMLEX 1) score was evaluated in 456 first-year osteopathic medical students along with a survey on its perceived benefits on success in medical gross anatomy course. No significant differences were found in gross anatomy grade, GPA, or COMLEX 1 score between students with premedical anatomy coursework and those without. However, significant differences and higher scores were observed in students who had taken three or more undergraduate anatomy courses including at least one with cadaveric laboratory. There was significantly lower perceived benefit for academic success in the medical gross anatomy course (P<.001) from those students who had taken premedical anatomy courses (5.9 of 10) compared with those who had not (8.2 of 10). Results suggest that requiring any anatomy course as a prerequisite for medical school would not have significant effect on student performance in the medical gross anatomy course. However, requiring more specific anatomy coursework including taking three or more undergraduate anatomy courses, one with cadaveric laboratory component, may result in higher medical gross anatomy grades, medical school GPA, and COMLEX 1 scores. Clin. Anat. 30:303-311, 2017. © 2017 Wiley Periodicals, Inc.

  4. Gross Motor Profile and Its Association with Socialization Skills in Children with Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Hardiono D. Pusponegoro

    2016-12-01

    Conclusion: Children with ASD had lower gross motor skills compared to typically developing children. Gross motor impairments were found in 20% of the ASD children, and these children also had lower socialization skills than those without gross motor impairments.

  5. APC and chromosome instability in colorectal cancer

    Directory of Open Access Journals (Sweden)

    C. M. Cabrera

    Full Text Available Colon cancer is a common disease that can be sporadic or familial. An inactivated adenomatous polyposis coli (APC suppressor gene is found in over 80% of colorectal tumors, this being an early alteration in the development of adenomatous polyps. APC function is not only critical for tumor initiation and progression, and chromosome instability (CIN is another characteristic dependent at least partly on APC mutations.

  6. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  7. Chromosomal replicons of higher plants

    Energy Technology Data Exchange (ETDEWEB)

    Van' t Hof, J.

    1987-03-16

    This brief discussion of replicons of higher plants offers a glimpse into the properties of chromosomal DNA replication. It gives evidence that the S phase of unrelated plant species is comprised of temporally ordered replicon families that increase in number with genome size. This orderly process, which assures a normal inheritance of genetic material to recipient daughter cells, is maintained at the level of replicon clusters by two mutually exclusive mechanisms, one involving the rate at which single replicons replicate their allotment of DNA, and another by means of the tempo-pause. The same two mechanisms are used by cells to alter the pattern of chromosomal DNA replication just prior to and during normal development. Both mechanisms are genetically determined and produce genetic effects when disturbed of disrupted by additional non-conforming DNAs. Further insight into how these two mechanisms operate requires more molecular information about the nature of replicons and the factors that govern when a replicon family replicates. Plant material is a rich and ideal source for this information just awaiting exploitation. 63 refs.

  8. [Sex chromosomes and meiosis].

    Science.gov (United States)

    Guichaoua, M-R; Geoffroy-Siraudin, C; Tassistro, V; Ghalamoun-Slaimi, R; Perrin, J; Metzler-Guillemain, C

    2009-01-01

    Sex chromosome behaviour fundamentally differs between male and female meiosis. In oocyte, X chromosomes synapse giving a XX bivalent which is not recognizable in their morphology and behaviour from autosomal bivalents. In human male, X and Y chromosomes differ from one another in their morphology and their genetic content, leading to a limited pairing and preventing genetic recombination, excepted in homologous region PAR1. During pachytene stage of the first meiotic prophase, X and Y chromosomes undergo a progressive condensation and form a transcriptionally silenced peripheral XY body. The condensation of the XY bivalent during pachytene stage led us to describe four pachytene substages and to localize the pachytene checkpoint between substages 2 and 3. We also defined the pachytene index (PI=P1+P2/P1+P2+P3+P4) which is always less than 0.50 in normal meiosis. XY body undergoes decondensation at diplotene stage, but transcriptional inactivation of the two sex chromosomes or Meiotic Sex Chromosome Inactivation (MSCI) persists through to the end of spermatogenesis. Sex chromosome inactivation involves several proteins, some of them were now identified. Two isoforms of the HP1 protein, HP1beta and HP1gamma, are involved in the facultative heterochromatinization of the XY body, but the initiation of this process involves the phosphorylation of the protein H2AX by the kinase ATR whose recruitment depends on BRCA1. Extensive researches on the inactivation of the sex chromosomes during male meiosis will allow to a better understanding of some male infertilities.

  9. Chromosome doubling method

    Science.gov (United States)

    Kato, Akio

    2006-11-14

    The invention provides methods for chromosome doubling in plants. The technique overcomes the low yields of doubled progeny associated with the use of prior techniques for doubling chromosomes in plants such as grasses. The technique can be used in large scale applications and has been demonstrated to be highly effective in maize. Following treatment in accordance with the invention, plants remain amenable to self fertilization, thereby allowing the efficient isolation of doubled progeny plants.

  10. Mathematical Modeling of Carcinogenesis Based on Chromosome Aberration Data

    Institute of Scientific and Technical Information of China (English)

    Xiao-bo Li

    2009-01-01

    Objective: The progression of human cancer is characterized by the accumulation of genetic instability. An increasing number of experimental genetic molecular techniques have been used to detect chromosome aberrations. Previous studies on chromosome abnormalities often focused on identifying the frequent loci of chromosome alterations, but rarely addressed the issue of interrelationship of chromosomal abnormalities. In the last few years, several mathematical models have been employed to construct models of carcinogenesis, in an attempt to identify the time order and cause-and-effect relationship of chromosome aberrations. The principles and applications of these models are reviewed and compared in this paper. Mathematical modeling of carcinogenesis can contribute to our understanding of the molecular genetics of tumor development, and identification of cancer related genes, thus leading to improved clinical practice of cancer.

  11. Activation of X Chromosome Inactivation

    NARCIS (Netherlands)

    C.M. Maduro (Cheryl)

    2016-01-01

    markdownabstractIn mammals, males are the heterogametic sex having an X chromosome and a Y chromosome whereas females have two X chromosomes. Despite originating from an ancient homologous autosomal pair, the X and Y chromosome now differ greatly in size and gene content after ~180 MY of evolution.

  12. Activation of X Chromosome Inactivation

    NARCIS (Netherlands)

    C.M. Maduro (Cheryl)

    2016-01-01

    markdownabstractIn mammals, males are the heterogametic sex having an X chromosome and a Y chromosome whereas females have two X chromosomes. Despite originating from an ancient homologous autosomal pair, the X and Y chromosome now differ greatly in size and gene content after ~180 MY of evolution.

  13. Vibrio chromosomes share common history

    Directory of Open Access Journals (Sweden)

    Gevers Dirk

    2010-05-01

    Full Text Available Abstract Background While most gamma proteobacteria have a single circular chromosome, Vibrionales have two circular chromosomes. Horizontal gene transfer is common among Vibrios, and in light of this genetic mobility, it is an open question to what extent the two chromosomes themselves share a common history since their formation. Results Single copy genes from each chromosome (142 genes from chromosome I and 42 genes from chromosome II were identified from 19 sequenced Vibrionales genomes and their phylogenetic comparison suggests consistent phylogenies for each chromosome. Additionally, study of the gene organization and phylogeny of the respective origins of replication confirmed the shared history. Conclusions Thus, while elements within the chromosomes may have experienced significant genetic mobility, the backbones share a common history. This allows conclusions based on multilocus sequence analysis (MLSA for one chromosome to be applied equally to both chromosomes.

  14. 肺癌患者呼出气冷凝液中基因微卫星改变和p53基因变异的检测及其意义%Significance of detection of chromosome microsatellite alterations and p53 gene mutation in exhaled breath condensate of lung cancer patients

    Institute of Scientific and Technical Information of China (English)

    冯哲敏; 陈建荣; 蔡映云

    2009-01-01

    呼出气冷凝液(exhaled breath condensate,EBC)检测是一种新的肺部病变诊断技术.通过检测EBC中相关基因.从而寻找早期诊断肺癌的新方法是目前肺癌研究的热点.采用聚合酶链式反应,对肺癌患者EBC中3号染色体短臂上基因的微卫星异常以及p53基因变异进行检测,结果发现肺癌患者EBC中基因微卫星改变和p53基因变异较正常对照者阳性率明显为高.目前对于EBC基因检测尚属探索阶段,但随着检测技术的不断完善,检测EBC中肺癌的基因标志物是一个较为有希望提高肺癌早期诊断率的方法.%Detection of the exhaled breath condensate(EBC) is a new diagnosis for lung disease.Detecting gene mutation in EBC of lung cancer patients as a potential method of diagnosing lung cancer in early period has become a hot spot in lung cancer research. Some researches, which detect gene mutation in EBC by using polymerase chain reaction, demonstrate that positive rates of p53 gene mutation and chromosome microsatellite alterations in chromosomal region 3p of lung cancer patients are higher than those of healthy peoples. Detecting gene mutation in EBC is still in research stage. However, as the continual development of detecting technique,it is expected to raise the early diagnosis of lung carcinoma.

  15. Y-chromosomal genes affecting male fertility: A review

    Directory of Open Access Journals (Sweden)

    Jasdeep Kaur Dhanoa

    2016-07-01

    Full Text Available The mammalian sex-chromosomes (X and Y have evolved from autosomes and are involved in sex determination and reproductive traits. The Y-chromosome is the smallest chromosome that consists of 2-3% of the haploid genome and may contain between 70 and 200 genes. The Y-chromosome plays major role in male fertility and is suitable to study the evolutionary relics, speciation, and male infertility and/or subfertility due to its unique features such as long non-recombining region, abundance of repetitive sequences, and holandric inheritance pattern. During evolution, many holandric genes were deleted. The current review discusses the mammalian holandric genes and their functions. The commonly encountered infertility and/or subfertility problems due to point or gross mutation (deletion of the Y-chromosomal genes have also been discussed. For example, loss or microdeletion of sex-determining region, Y-linked gene results in XY males that exhibit female characteristics, deletion of RNA binding motif, Y-encoded in azoospermic factor b region results in the arrest of spermatogenesis at meiosis. The holandric genes have been covered for associating the mutations with male factor infertility.

  16. Climate change amplifies gross nitrogen turnover in montane grasslands of Central Europe both in summer and winter seasons

    Science.gov (United States)

    Chen, Zhe; Wang, Changhui; Unteregelsbacher, Sebastian; Lu, Haiyan; Gschwendtner, Silvia; Gasche, Rainer; Kolar, Allison; Schloter, Michael; Butterbach-Bahl, Klaus; Dannenmann, Michael

    2016-04-01

    The carbon and nitrogen rich soils of montane grasslands are exposed to above average warming and to altered precipitation patterns as a result of global change. In order to investigate the consequences of climatic change for soil nitrogen turnover, we translocated intact plant-soil mesocosms along an elevational gradient. Following three years of equilibration, we monitored the dynamics of gross nitrogen turnover and ammonia oxidizing microbes over an entire year. Gross nitrogen turnover and gene levels of ammonia oxidizing bacteria (AOB) and archaea (AOA) showed pronounced seasonal dynamics. While both summer and winter periods equally contributed to cumulative annual N turnover, the highest gross N turnover and abundance of ammonia oxidizers were observed in frozen soil of climate change sites due to physical liberation of organic substrates and their rapid turnover in the unfrozen soil water film. The control site never experienced soil freezing due to a significant insulating snowpack. Climate change conditions accelerated gross N mineralization by 250% on average. The AOB community benefited more from increased soil ammonium production under climate change conditions than the AOA community and thus accounted for a significant increase in gross nitrification rates. Climate change impacts were restricted to the 2-6 cm topsoil and rarely occurred at 12-16 cm depth, where generally much lower N turnover was observed. Mineralization pulses in a changing climate may result in soil organic matter loss with their associated negative impacts on key soil functions. In this context, N cycling processes in frozen soil can be a hot spot for gross N turnover and thus be of paramount importance for understanding seasonal patterns, annual sum of N turnover and possible climate change feedbacks.

  17. Gross Pollutant Traps: Wet Load Assessment at Sungai Kerayong, Malaysia

    Science.gov (United States)

    Mohd Shah, M. R.; Zahari, N. M.; Said, N. F. Md; Sidek, L. M.; Basri, H.; Noor, M. S. F. Md; Husni, M. M. Mohammad; Jajarmizadeh, Milad; Roseli, ZA; Mohd. Dom, N.

    2016-03-01

    The purpose of this project is to carry out assessment on the effectiveness and performance of Gross Pollutant Traps (GPTs) stormwater quality control in the urban areas. The study aims to provide a management and planning tool for effective management of the gross pollutants in the urban areas specifically in River of Life (ROL) project. ROL project is a Malaysian Government initiative under the Economic Transformation Program. One of the program in the greater Klang Valley is to transform Klang River into a vibrant and livable waterfront by the year 2020. The main river in ROL catchment is Sungai Klang (upper catchment), with main tributaries Sungai Gombak, Sungai Batu, Sungai Jinjang, Sungai Keroh, Sungai Bunus, Sungai Ampang and Sungai Kerayong. This paper objective is to study the gross pollutant wet load at Sungai Kerayong 1 and Sungai Kerayong 2 which is located at the downstream location of the ROL project. The result shows that Sungai Kerayong 2 produced higher gross pollutant wet load (8025.33 kg/ha/yr) than Sungai Kerayong 1 (4695.12 kg/ha/yr). This could be due to high contributions amounts of gross pollutant traps from residential area, the degree of develop area, and also the location of the river itself related to climate and rainfall.

  18. Gross efficiency during rowing is not affected by stroke rate.

    Science.gov (United States)

    Hofmijster, Mathijs J; Van Soest, Arthur J; De Koning, Jos J

    2009-05-01

    It has been suggested that the optimal stroke rate in rowing is partly determined by the stroke-rate dependence of internal power losses. This should be reflected in a stroke-rate dependency of gross efficiency (e(gross)). The purpose of this study was to investigate if e(gross) is affected by stroke rate. A second aim was to determine whether internal power losses can be estimated by the negative power output during the stroke cycle (P(negative)). Seventeen well-trained female rowers participated in this study. They rowed three trials on a modified rowing ergometer on slides at a submaximal intensity, with a respiratory exchange ratio of 1 or close to 1. Stroke rates were 28, 34, and 40 strokes per minute. The trials were fully randomized. Power transfer to the flywheel was kept constant whereas e(gross) was determined during each trial. No significant differences in e(gross) were found between conditions. This finding suggests that in rowing internal power losses are not influenced by stroke rate. Furthermore, although P(negative) increased at increasing stroke rate (P measure to estimate internal power losses. This study shows that within the range of stroke rates applied in competitive rowing, internal power losses are unrelated to rowing cycle frequency.

  19. "Chromosome": a knowledge-based system for the chromosome classification.

    Science.gov (United States)

    Ramstein, G; Bernadet, M

    1993-01-01

    Chromosome, a knowledge-based analysis system has been designed for the classification of human chromosomes. Its aim is to perform an optimal classification by driving a tool box containing the procedures of image processing, pattern recognition and classification. This paper presents the general architecture of Chromosome, based on a multiagent system generator. The image processing tool box is described from the met aphasic enhancement to the fine classification. Emphasis is then put on the knowledge base intended for the chromosome recognition. The global classification process is also presented, showing how Chromosome proceeds to classify a given chromosome. Finally, we discuss further extensions of the system for the karyotype building.

  20. Computer aided analysis of additional chromosome aberrations in Philadelphia chromosome positive acute lymphoblastic leukaemia using a simplified computer readable cytogenetic notation

    Directory of Open Access Journals (Sweden)

    Mohr Brigitte

    2003-01-01

    Full Text Available Abstract Background The analysis of complex cytogenetic databases of distinct leukaemia entities may help to detect rare recurring chromosome aberrations, minimal common regions of gains and losses, and also hot spots of genomic rearrangements. The patterns of the karyotype alterations may provide insights into the genetic pathways of disease progression. Results We developed a simplified computer readable cytogenetic notation (SCCN by which chromosome findings are normalised at a resolution of 400 bands. Lost or gained chromosomes or chromosome segments are specified in detail, and ranges of chromosome breakpoint assignments are recorded. Software modules were written to summarise the recorded chromosome changes with regard to the respective chromosome involvement. To assess the degree of karyotype alterations the ploidy levels and numbers of numerical and structural changes were recorded separately, and summarised in a complex karyotype aberration score (CKAS. The SCCN and CKAS were used to analyse the extend and the spectrum of additional chromosome aberrations in 94 patients with Philadelphia chromosome positive (Ph-positive acute lymphoblastic leukemia (ALL and secondary chromosome anomalies. Dosage changes of chromosomal material represented 92.1% of all additional events. Recurring regions of chromosome losses were identified. Structural rearrangements affecting (pericentromeric chromosome regions were recorded in 24.6% of the cases. Conclusions SCCN and CKAS provide unifying elements between karyotypes and computer processable data formats. They proved to be useful in the investigation of additional chromosome aberrations in Ph-positive ALL, and may represent a step towards full automation of the analysis of large and complex karyotype databases.

  1. In vivo effect on pig chromosomes of high dosage vaccine against classic swine fever.

    Science.gov (United States)

    Genghini, R; Tiranti, I; Segade, G; Amado, J; Wittouck, P; Mian, L

    1998-12-03

    Hog cholera virus (HCV) can induce chromosome abnormalities in diseased pigs as well as in those vaccinated with attenuated virus vaccine against classic swine fever. An experiment was made using animals from potency and safety control tests of commercial vaccines in Argentina. The different types of chromosomal alterations observed were chromatid and chromosome breaks, chromatid exchanges, polyploid, multiple aberrations cells, and chromosome pulverization. In this study the occurrence of chromosome alterations in pigs receiving either 1 or 10 vaccine doses was evaluated by means of blood sampling at different periods after vaccination. An essay comparing prolificity between treated and non-treated sows was also made. Significant differences in the amount of damaged chromosomes as well as differences in the type of predominant alterations between the two treatments were observed. Aberration frequencies increased from the 5-day postvaccination period reaching the highest value of 4.14% at the 10th, for the one-dose treatment; and highest value of 42.7% including 33.96% of cell with chromosome pulverization which was found in the 7th day interval when applying 10 doses. From then on, the proportion of affected cells dropped until the 20th day interval, which was the last recorded. The prolificity trial did not show any difference between treated and control sows, indicating that chromosome alteration might be limited to lymphocytes. It is concluded that HCV maintains its mutagenic potentiality in the attenuated vaccine, being able to induce chromosomal damage as it does in classic swine fever diseased animals.

  2. Hierarchical radial and polar organisation of chromosomes in human sperm.

    Science.gov (United States)

    Millan, N M; Lau, P; Hann, M; Ioannou, D; Hoffman, D; Barrionuevo, M; Maxson, W; Ory, S; Tempest, H G

    2012-10-01

    It is well established that chromosomes occupy distinct positions within the interphase nuclei, conferring a potential functional implication to the genome. In addition, alterations in the nuclear organisation patterns have been associated with disease phenotypes (e.g. cancer or laminopathies). The human sperm is the smallest cell in the body with specific DNA packaging and the mission of delivering the paternal genome to the oocyte during fertilisation. Studies of nuclear organisation in the sperm have postulated nonrandom chromosome position and have proposed a chromocentre model with the centromeres facing toward the interior and the telomeres toward the periphery of the nucleus. Most studies have assessed the nuclear address in the sperm longitudinally predominantly using centromeric or telomeric probes and to a lesser extent with whole chromosome paints. To date, studies investigating the radial organisation of human sperm have been limited. The purpose of this study was to utilise whole chromosome paints for six clinically important chromosomes (18, 19, 21, 22, X, and Y) to investigate nuclear address by assessing their radial and longitudinal nuclear organisation. A total of 10,800 sperm were analysed in nine normozoospermic individuals. The results have shown nonrandom chromosome position for all chromosomes using both methods of analysis. We present novel radial and polar analysis of chromosome territory localization within the human sperm nucleus. Specifically, a hierarchical organisation was observed radially with chromosomes organised from the interior to the periphery (chromosomes 22, 21, Y, X, 19, and 18 respectively) and polar organisation from the sperm head to tail (chromosomes X, 19, Y, 22, 21, and 18, respectively). We provide evidence of defined nuclear organisation in the human sperm and discuss the function of organisation and potential possible clinical ramifications of these results in regards to male infertility and early human development.

  3. Those amazing dinoflagellate chromosomes

    Institute of Scientific and Technical Information of China (English)

    PETER J RIZZO

    2003-01-01

    Dinoflagellates are a very large and diverse group of eukaryotic algae that play a major role in aquatic food webs of both fresh water and marine habitats. Moreover, the toxic members of this group pose a health threat in the form of red tides. Finally, dinoflagellates are of great evolutionary importance,because of their taxonomic position, and their unusual chromosome structure and composition. While the cytoplasm of dinoflagellates is typically eukaryotic, the nucleus is unique when compared to the nucleus of other eukaryotes. More specifically, while the chromosomes of all other eukaryotes contain histones,dinoflagellate chromosomes lack histones completely. There are no known exceptions to this observation: all dinoflagellates lack histones, and all other eukaryotes contain histones. Nevertheless, dinoflagellates remain a relatively unstudied group of eukaryotes.

  4. Chromosome numbers in Bromeliaceae

    Directory of Open Access Journals (Sweden)

    Cotias-de-Oliveira Ana Lúcia Pires

    2000-01-01

    Full Text Available The present study reports chromosome numbers of 17 species of Bromeliaceae, belonging to the genera Encholirium, Bromelia, Orthophytum, Hohenbergia, Billbergia, Neoglaziovia, Aechmea, Cryptanthus and Ananas. Most species present 2n = 50, however, Bromelia laciniosa, Orthophytum burle-marxii and O. maracasense are polyploids with 2n = 150, 2n = 100 and 2n = 150, respectively, while for Cryptanthus bahianus, 2n = 34 + 1-4B. B chromosomes were observed in Bromelia plumieri and Hohenbergia aff. utriculosa. The chromosome number of all species was determined for the first time, except for Billbergia chlorosticta and Cryptanthus bahianus. Our data supports the hypothesis of a basic number of x = 25 for the Bromeliaceae family and decreasing aneuploidy in the genus Cryptanthus.

  5. Gross municipal product: the design procedure and application

    Directory of Open Access Journals (Sweden)

    Dmitry Vasilevich Kolechkov

    2012-12-01

    Full Text Available The article is devoted to the actual problem to find the adequate methods to assess the economic performance of municipalities conditioned by their growing independence and role in the development of regional economy. Nowadays many researchers are working on the practical application and testing of various approaches to assessing theterritory economicresults based on thecalculation of gross municipal product (GМP. However, the development of methodological reasonable calculation tools is still at an early stage. In this article presents a simplified method of calculating the gross municipal product, an analysis of the dynamics and territorialindustrial structure GМP, implemented in terms of grouping areas GМP methods hierarchical cluster analysis of the economic characteristics of the obtained clustersbased on systematic occurring in the economic literature, methodological developments in the calculation of gross municipal product, determination of strengths and weaknesses of different methodological approaches

  6. Anatomy of the Gross Intestine of the Capybara (Hydrochoerus Hydrochaeris

    Directory of Open Access Journals (Sweden)

    Noelia Vazquez

    2012-01-01

    Full Text Available Problem statement: The anatomy of the gross intestine and its mesentery of the capybara (Hydrochoerus hydrochaeris have not been described completely. Approach: In the present study, eight adult capybaras were studied using gross dissection. Results: The cecum was the largest part of the intestine and was divided into base, body and apex. The cecocolic fold joined the cecum to the full extent of the proximal loop of ascending colon. The ascending colon was divided into two ansae, one proximal and one distal or spiral. The distal ansa had a spiral arrangement and was placed cranially to the right, covered ventrally by the apex of the cecum. This ansa had a centripetal gyrus to the left, a central flexure and a centrifugal gyrus turning to the right that was continuous with the transverse colon in the right colic flexure. Conclusion: The gross intestine of the capybara was different to other previously studied rodents.

  7. Potato production in Europe - a gross margin analysis

    DEFF Research Database (Denmark)

    Pedersen, Søren Marcus; Bizik, Jan; Costa, Luisa Dalla;

    The purpose of this paper is to examine different cropping practices, cost structures and gross margins for producing conventional table potatoes in 6 different regions within the European Union: Czech Republic, Denmark, Italy, Poland, Portugal and Slovakia. Findings from this study show that pot......The purpose of this paper is to examine different cropping practices, cost structures and gross margins for producing conventional table potatoes in 6 different regions within the European Union: Czech Republic, Denmark, Italy, Poland, Portugal and Slovakia. Findings from this study show...... that potato cropping practices varies signifi-cantly between these countries with major differences in yields and costs. Italy and Denmark are the two regions with highest gross margins due to high yields and reve-nues. Poland is by far the largest potato producing country among the 6 countries ex...

  8. Genetic aspects of human male infertility: the frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility.

    Science.gov (United States)

    Vicdan, Arzu; Vicdan, Kubilay; Günalp, Serdar; Kence, Aykut; Akarsu, Cem; Işik, Ahmet Zeki; Sözen, Eran

    2004-11-10

    The main purpose of this study is to detect the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions in patients with severe male factor infertility and fertile control subjects. The association between the genetic abnormality and clinical parameters was also evaluated. This study was carried out in 208 infertile and 20 fertile men. Results of 208 patients, 119 had non-obstructive azoospermia and 89 had severe oligoasthenoteratozoospermia (OAT). Seventeen out of 119 (14.3%) azoospermic patients and two out of 89 (2.2%) patients with OAT had Y chromosome microdeletions. In total, 19 cases with deletions were detected in 208 infertile men, with a frequency of 9.1%. The AZFc locus, mainly DAZ gene cluster was the most frequently deleted region. Five other cases with azoospermia (4.2%) and two cases with OAT (2.2%) had a chromosomal abnormality, with a total number of seven (3.4%). Including Y chromosome deletions and structural chromosome abnormalities, the rate of genetic abnormalities was 12.5% (26/208) in our patients. On the other hand, 20 men with proven fertility and fathers of five cases with microdeletions were genetically normal. Y chromosome deletions and chromosomal abnormalities were associated with various histological alterations in testis. Sertoli cell-only (SCO) syndrome and maturation arrest predominated in these cases, whereas hypospermatogenesis occurred more frequently in genetically normal patients. Various chromosomal abnormalities and deletions of Y chromosome can cause spermatogenic breakdown resulting in chromosomally derived infertility. All these findings strongly support the recommendation of genetic screening of infertile patients.

  9. Effects of static bicycle training on gross motor function, muscle strength and spasticity of adolescents with spastic cerebral palsy

    Directory of Open Access Journals (Sweden)

    CHRISTOS TSIGKANOS

    2013-01-01

    Full Text Available The purpose of the present study was to examine the effects of an 8- week lower limb strengthening program on gross motor function, muscle strength and spasticity levels of both the quadriceps and hip adductors of adolescents 14 to 19 years of age with spastic cerebral palsy using a specific static bicycle (Thera-Vital exerciser. Eight students were assigned to the experimental group and another 8 to the control group. The strengthening program took place 3 times a week (6 sets of 10 to 15 full cycling circles. The Gross Motor Function Measure (GMFM (dimensions D and E, an isometric hand-held dynamometer and Asworth scale were the measurement instruments used in the study. A multivariance analysis of variance (MANOVA was applied for identifying the statistical importance of the results of the intervention protocol. A statistically significant improvement in both gross motor function (p = 0.016 and muscle strength (p = 0.039 was found without a statistically significant alteration of the muscle tone of the quadriceps and hip adductors of the participants (p = 0.13 and p = 0.33. The results of the present study indicate that static bicycle is a safe and effective means of exercise since it improves the gross motor function of adolescents with cerebral palsy without increasing the muscle tone of the lower limb.

  10. A survey of gross alpha and gross beta activity in soil samples in Kinta District, Perak, Malaysia.

    Science.gov (United States)

    Lee, Siak Kuan; Wagiran, Husin; Ramli, Ahmad Termizi

    2014-12-01

    The objective of this study was to determine the gross alpha and gross beta activity concentrations from the different soil types found in the Kinta District, Perak, Malaysia. A total of 128 soil samples were collected and their dose rates were measured 1 m above the ground. Gross alpha and gross beta activity measurements were carried out using gas flow proportional counter, Tennelec Series 5 LB5500 Automatic Low Background Counting System. The alpha activity concentration ranged from 15 to 9634 Bq kg(-1) with a mean value of 1558±121 Bq kg(-1). The beta activity concentration ranged from 142 to 6173 Bq kg(-1) with a mean value of 1112±32 Bq kg(-1). High alpha and beta activity concentrations are from the same soil type. The results of the analysis show a strong correlation between the gross alpha activity concentration and dose rate (R = 0.92). The data obtained can be used as a database for each soil type.

  11. Ludwik Gross, Sarah Stewart, and the 1950s discoveries of Gross murine leukemia virus and polyoma virus.

    Science.gov (United States)

    Morgan, Gregory J

    2014-12-01

    The Polish-American scientist Ludwik Gross made two important discoveries in the early 1950s. He showed that two viruses - murine leukemia virus and parotid tumor virus - could cause cancer when they were injected into susceptible animals. At first, Gross's discoveries were greeted with skepticism: it seemed implausible that viruses could cause a disease as complex as cancer. Inspired by Gross's initial experiments, similar results were obtained by Sarah Stewart and Bernice Eddy who later renamed the parotid tumor virus SE polyoma virus after finding it could cause many different types of tumors in mice, hamsters, and rats. Eventually the "SE" was dropped and virologists adopted the name "polyoma virus." After Gross's work was published, additional viruses capable of causing solid tumors or blood-borne tumors in mice were described by Arnold Graffi, Charlotte Friend, John Moloney and others. By 1961, sufficient data had been accumulated for Gross to confidently publish an extensive monograph--Oncogenic Viruses--the first history of tumor virology, which became a standard reference work and marked the emergence of tumor virology as a distinct, legitimate field of study. Copyright © 2014 Elsevier Ltd. All rights reserved.

  12. Numerical simulation for the Gross-Pitaevskii equation based on the lattice Boltzmann method

    Science.gov (United States)

    Wang, Huimin

    2017-09-01

    A lattice Boltzmann model for the Gross-Pitaevskii equation is proposed in this paper. Some numerical tests for one- and two-dimensional Gross-Pitaevskii equation have been conducted. The waves of the Gross-Pitaevskii equation are simulated. Numerical results show that the lattice Boltzmann method is an effective method for the wave of the Gross-Pitaevskii equation.

  13. 29 CFR 779.259 - What is included in annual gross volume.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 3 2010-07-01 2010-07-01 false What is included in annual gross volume. 779.259 Section... Coverage Annual Gross Volume of Sales Made Or Business Done § 779.259 What is included in annual gross volume. (a) The annual gross volume of sales made or business done of an enterprise consists of its...

  14. 29 CFR 794.122 - Ascertainment of “annual” gross sales volume.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 3 2010-07-01 2010-07-01 false Ascertainment of âannualâ gross sales volume. 794.122... Annual Gross Volume of Sales § 794.122 Ascertainment of “annual” gross sales volume. The annual gross volume of sales of an enterprise engaged in the wholesale or bulk distribution of petroleum...

  15. Happy Life Years: a measure of Gross National Happiness

    OpenAIRE

    Veenhoven, Ruut

    2004-01-01

    textabstractHappiness is defined as the degree to which a person enjoys his or her life-as-a-whole. Accordingly ‘Gross National Happiness’ is defined as the degree to which citizens in a country enjoy the life they live. Individual happiness can be measured by self-report on a single standard question. Hence Gross National Happiness can be measured by the average response to such questions in general populations surveys. Survey data on average self-report of happiness can be combined with est...

  16. The Impact of Investments and Gross Value Added upon Earnings

    Directory of Open Access Journals (Sweden)

    Larisa APARASCHIVEI

    2011-02-01

    Full Text Available In this paper we tried to capture the impact of investments and gross value added, but also the impact of the employment on the average wage. The analysis refers to the period 1998- 2008 and we are using data on the activities of the Romanian economy. The results of this study confirm the negative influence of the employment, being consistent with the theory. Also, the impact of investments and that of gross value added came out to be positive and significant.

  17. Revised Phase Diagram of the Gross-Neveu Model

    CERN Document Server

    Thies, M; Thies, Michael; Urlichs, Konrad

    2003-01-01

    We confirm earlier hints that the conventional phase diagram of the discrete chiral Gross-Neveu model in the large N limit is deficient at non-zero chemical potential. We present the corrected phase diagram constructed in mean field theory. It has three different phases, including a kink-antikink crystal phase. All transitions are second order. The driving mechanism for the new structure of baryonic matter in the Gross-Neveu model is an Overhauser type instability with gap formation at the Fermi surface.

  18. Chromosomal rearrangements in cattle and pigs revealed by chromosome microdissection and chromosome painting

    Directory of Open Access Journals (Sweden)

    Yerle Martine

    2003-11-01

    Full Text Available Abstract A pericentric inversion of chromosome 4 in a boar, as well as a case of (2q-;5p+ translocation mosaicism in a bull were analysed by chromosome painting using probes generated by conventional microdissection. For the porcine inversion, probes specific for p arms and q arms were produced and hybridised simultaneously on metaphases of a heterozygote carrier. In the case of the bovine translocation, two whole chromosome probes (chromosome 5, and derived chromosome 5 were elaborated and hybridised independently on chromosomal preparations of the bull who was a carrier of the mosaic translocation. The impossibility of differentiating chromosomes 2 and der(2 from other chromosomes of the metaphases did not allow the production of painting probes for these chromosomes. For all experiments, the quality of painting was comparable to that usually observed with probes obtained from flow-sorted chromosomes. The results obtained allowed confirmation of the interpretations proposed with G-banding karyotype analyses. In the bovine case, however, the reciprocity of the translocation could not be proven. The results presented in this paper show the usefulness of the microdissection technique for characterising chromosomal rearrangements in species for which commercial probes are not available. They also confirmed that the main limiting factor of the technique is the quality of the chromosomal preparations, which does not allow the identification of target chromosomes or chromosome fragments in all cases.

  19. Chromosomal rearrangement interferes with meiotic X chromosome inactivation

    OpenAIRE

    Homolka, David; Ivanek, Robert; Capkova, Jana; Jansa, Petr; Forejt, Jiri

    2007-01-01

    Heterozygosity for certain mouse and human chromosomal rearrangements is characterized by the incomplete meiotic synapsis of rearranged chromosomes, by their colocalization with the XY body in primary spermatocytes, and by male-limited sterility. Previously, we argued that such X–autosomal associations could interfere with meiotic sex chromosome inactivation. Recently, supporting evidence has reported modifications of histones in rearranged chromosomes by a process called the meiotic silencin...

  20. Persistent radiation-induced chromosomal changes in native pocket mouse populations of the Nevada Test Site. Summary report, April 18, 1964-April 18, 1965

    Energy Technology Data Exchange (ETDEWEB)

    Towner, J.W.; Lindberg, R.G.

    Preliminary results are reported from a study of chromosome aberrations in a population of the long-tailed pocket mouse (Perognathus formosus) at the Nevada Test Site. Somatic or germinal tissues from 158 animals were sampled and more than 3000 chromosome preparations of mitosis and meiosis were accumulated for study of gross structural and numerical aberrations. An attempt was made to distinguish between those chromosome aberrations that might persist in the population by gametic transmission in successive generations and those aberrations acquired by the individual or transitory on the population level. The effects of exposure of the population to chronic radiation from fallout on chromosome aberrations will be evaluated.

  1. Chromosomes, cancer and radiosensitivity

    Energy Technology Data Exchange (ETDEWEB)

    Samouhos, E.

    1983-08-01

    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available.

  2. Ring chromosome 13

    DEFF Research Database (Denmark)

    Brandt, C A; Hertz, Jens Michael; Petersen, M B;

    1992-01-01

    A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation...

  3. The Y Chromosome

    Science.gov (United States)

    Offner, Susan

    2010-01-01

    The Y chromosome is of great interest to students and can be used to teach about many important biological concepts in addition to sex determination. This paper discusses mutation, recombination, mammalian sex determination, sex determination in general, and the evolution of sex determination in mammals. It includes a student activity that…

  4. Why Chromosome Palindromes?

    Directory of Open Access Journals (Sweden)

    Esther Betrán

    2012-01-01

    Full Text Available We look at sex-limited chromosome (Y or W evolution with particular emphasis on the importance of palindromes. Y chromosome palindromes consist of inverted duplicates that allow for local recombination in an otherwise nonrecombining chromosome. Since palindromes enable intrachromosomal gene conversion that can help eliminate deleterious mutations, they are often highlighted as mechanisms to protect against Y degeneration. However, the adaptive significance of recombination resides in its ability to decouple the evolutionary fates of linked mutations, leading to both a decrease in degeneration rate and an increase in adaptation rate. Our paper emphasizes the latter, that palindromes may exist to accelerate adaptation by increasing the potential targets and fixation rates of incoming beneficial mutations. This hypothesis helps reconcile two enigmatic features of the “palindromes as protectors” view: (1 genes that are not located in palindromes have been retained under purifying selection for tens of millions of years, and (2 under models that only consider deleterious mutations, gene conversion benefits duplicate gene maintenance but not initial fixation. We conclude by looking at ways to test the hypothesis that palindromes enhance the rate of adaptive evolution of Y-linked genes and whether this effect can be extended to palindromes on other chromosomes.

  5. The Y Chromosome

    Science.gov (United States)

    Offner, Susan

    2010-01-01

    The Y chromosome is of great interest to students and can be used to teach about many important biological concepts in addition to sex determination. This paper discusses mutation, recombination, mammalian sex determination, sex determination in general, and the evolution of sex determination in mammals. It includes a student activity that…

  6. Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22.

    Science.gov (United States)

    Bailey, Jeffrey A; Yavor, Amy M; Viggiano, Luigi; Misceo, Doriana; Horvath, Juliann E; Archidiacono, Nicoletta; Schwartz, Stuart; Rocchi, Mariano; Eichler, Evan E

    2002-01-01

    In recent decades, comparative chromosomal banding, chromosome painting, and gene-order studies have shown strong conservation of gross chromosome structure and gene order in mammals. However, findings from the human genome sequence suggest an unprecedented degree of recent (homologous duplications (> or = 1 kb and > or = 90%) on chromosome 22. Overall, 10.8% (3.7/33.8 Mb) of chromosome 22 is duplicated, with an average sequence identity of 95.4%. To organize the duplications into tractable units, intron-exon structure and well-defined duplication boundaries were used to define 78 duplicated modules (minimally shared evolutionary segments) with 157 copies on chromosome 22. Analysis of these modules provides evidence for the creation or modification of 11 novel transcripts. Comparative FISH analyses of human, chimpanzee, gorilla, orangutan, and macaque reveal qualitative and quantitative differences in the distribution of these duplications--consistent with their recent origin. Several duplications appear to be human specific, including a approximately 400-kb duplication (99.4%-99.8% sequence identity) that transposed from chromosome 14 to the most proximal pericentromeric region of chromosome 22. Experimental and in silico data further support a pericentromeric gradient of duplications where the most recent duplications transpose adjacent to the centromere. Taken together, these data suggest that segmental duplications have been an ongoing process of primate genome evolution, contributing to recent gene innovation and the dynamic transformation of genome architecture within and among closely related species.

  7. Chromosome Variations And Human Behavior

    Science.gov (United States)

    Soudek, D.

    1974-01-01

    Article focused on the science of cytogenetics, which studied the transmission of the units of heredity called chromosomes, and considered the advantage of proper diagnosis of genetic diseases, treated on the chromosomal level. (Author/RK)

  8. Monitoring of gross alpha, gross beta and actinides activities in exhaust air released from the waste isolation pilot plant

    Energy Technology Data Exchange (ETDEWEB)

    Thakur, P., E-mail: pthakur@cemrc.org [Carlsbad Environmental Monitoring and Research Center, 1400 University Drive, Carlsbad, New Mexico 88220 (United States); Mulholland, G.P. [Carlsbad Environmental Monitoring and Research Center, 1400 University Drive, Carlsbad, New Mexico 88220 (United States)

    2011-09-15

    The simultaneous measurements of gross alpha and beta activities is one of the simplest radioanalytical technique used as a method for screening samples of both high and low activities of alpha and beta emitting radionuclides in environmental and bioassay samples. Such measurements are of great interest from both a radiological, waste disposal viewpoint, and to establish a trend of radioactivity based on long term monitoring. At the WIPP (Waste Isolation Pilot Plant) site, unfiltered exhaust air from the underground repository is the most important effluent. As part of its monitoring program, the particulates from WIPP exhaust air are collected everyday at a location typically called the Fixed Air Sampler (FAS) site or Station A, this site is located at the release point for aerosol effluents from the underground to the environment. The measurements of gross alpha and beta activity on air filter samples were performed using an ultra low level counter, PIC-MPC 9604-{alpha}/{beta}, from Protean Instrument Corporation. The high sensitivity of the gross alpha and beta instrument enables detection of low value activity from the air filters. In 2009, the values of gross alpha and beta activity concentrations ranged from Simultaneous measurements of gross alpha and gross beta activities in the particulates from WIPP exhaust air were performed. > Ultra low level counter, PIC-MPC 9604-{alpha}/{beta} counter was used for the measurements. > Values of gross alpha activity concentrations ranged from Values of gross beta activity concentrations ranged from

  9. Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China.

    Science.gov (United States)

    Zhang, M; Fan, H-T; Zhang, Q-S; Wang, X-Y; Yang, X; Tian, W-J; Li, R-W

    2015-12-08

    Chromosomal abnormality is the most common genetic cause of male infertility, particularly in cases of azoospermia, oligozoospermia, and recurrent spontaneous abortion. Chromosomal rearrangement may interrupt an important gene or exert position effects. The functionality of genes at specific breakpoints, perhaps with a specific role in spermatogenesis, may be altered by such rearrangements. Structural chromosome abnormalities are furthermore known to increase the risk of pregnancy loss. In this study, we aimed to assess chromosomal defects in infertile men from Jilin Province, China, by genetic screening and to evaluate the relationship between structural chromosome abnormalities and male infertility. The prevalence of chromosomal abnormalities among the study participants (receiving genetic counseling in Jilin Province, China) was 10.55%. The most common chromosome abnormality was Klinefelter syndrome, and the study findings suggested that azoospermia and oligospermia may result from structural chromosomal abnormalities. Chromosome 1 was shown to be most commonly involved in male infertility and balanced chromosomal translocation was identified as one of the causes of recurrent spontaneous abortion. Chromosomes 4, 7, and 10 were the most commonly involved chromosomes in male partners of women experiencing repeated abortion.

  10. [Dicentric Y chromosome].

    Science.gov (United States)

    Abdelmoula, N Bouayed; Amouri, A

    2005-01-01

    Dicentric Y chromosomes are the most common Y structural abnormalities and their influence on gonadal and somatic development is extremely variable. Here, we report the third comprehensive review of the literature concerning dicentric Y chromosomes reported since 1994. We find 78 new cases for which molecular studies (PCR or FISH) have been widely applied to investigate SRY (68% of cases), GBY, ZFY, RFS4Y, GCY and different genes at AZF region. For dic(Yq), all cases (n = 20) were mosaic for 45,X and 4 of them were also mosaic for a 46,XY cell line. When breakpoints were available (15/20 cases), they were in Yp11. 50% of cases were phenotypic female and 20% phenotypic male while 20% of cases were reported with gonadal dysgenesis. Gonadal histology was defined in 8 cases but only in one case, gonadal tissu was genetically investigated because of gonadoblastoma. For dic(Yp) (n = 55), mosaicism concerned only 45,X cell line and was found in 50 cases while the remainder five cases were homogeneous. When breakpoints were available, it was at Yq11 in 50 cases and at Yq12 in two cases. 54% of cases were phenotypic female, 26% were phenotypic male and 18% were associated with genitalia ambiguous. SRY was analyzed in 33 cases, sequenced in 9 cases and was muted in only one case. Gonads were histologically explored in 34 cases and genetically investigated in 8 cases. Gonadoblastoma was found in only two cases. Through this review, it seems that phenotype-genotype correlations are still not possible and that homogeneous studies of dic(Y) in more patients using molecular tools for structural characterization of the rearranged Y chromosome and assessment of mosaicism in many organs are necessary to clarify the basis of the phenotypic heterogeneity of dicentric Y chromosomes and then to help phenotypic prediction of such chromosome rearrangement.

  11. Telomere dysfunction and chromosome instability

    Energy Technology Data Exchange (ETDEWEB)

    Murnane, John P., E-mail: jmurnane@radonc.ucsf.edu [Department of Radiation Oncology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143-1331 (United States)

    2012-02-01

    The ends of chromosomes are composed of a short repeat sequence and associated proteins that together form a cap, called a telomere, that keeps the ends from appearing as double-strand breaks (DSBs) and prevents chromosome fusion. The loss of telomeric repeat sequences or deficiencies in telomeric proteins can result in chromosome fusion and lead to chromosome instability. The similarity between chromosome rearrangements resulting from telomere loss and those found in cancer cells implicates telomere loss as an important mechanism for the chromosome instability contributing to human cancer. Telomere loss in cancer cells can occur through gradual shortening due to insufficient telomerase, the protein that maintains telomeres. However, cancer cells often have a high rate of spontaneous telomere loss despite the expression of telomerase, which has been proposed to result from a combination of oncogene-mediated replication stress and a deficiency in DSB repair in telomeric regions. Chromosome fusion in mammalian cells primarily involves nonhomologous end joining (NHEJ), which is the major form of DSB repair. Chromosome fusion initiates chromosome instability involving breakage-fusion-bridge (B/F/B) cycles, in which dicentric chromosomes form bridges and break as the cell attempts to divide, repeating the process in subsequent cell cycles. Fusion between sister chromatids results in large inverted repeats on the end of the chromosome, which amplify further following additional B/F/B cycles. B/F/B cycles continue until the chromosome acquires a new telomere, most often by translocation of the end of another chromosome. The instability is not confined to a chromosome that loses its telomere, because the instability is transferred to the chromosome donating a translocation. Moreover, the amplified regions are unstable and form extrachromosomal DNA that can reintegrate at new locations. Knowledge concerning the factors promoting telomere loss and its consequences is

  12. 26 CFR 1.555-2 - Additions to gross income.

    Science.gov (United States)

    2010-04-01

    ... Corporation sells 90percent of its stock in the Y Corporation and thus is a minority shareholder in the Y... on which the required United States group exists, and (2) Such foreign corporation is a shareholder... the gross income of its shareholders, whether United States shareholders or other foreign...

  13. Comments on the research article by Gross et al. (2012)

    DEFF Research Database (Denmark)

    Guntur, Srinivas; Sørensen, Niels N.

    2014-01-01

    The purpose of this Letter to the Editor is to present a discussion on the physics of rotational augmentation based on existing work. One of the latest works by Gross et al. (2012) is highlighted here, and its conclusions are discussed. Based on the existing understanding of rotational augmentati...

  14. Effective Collaboration among the Gross Motor Assessment Team Members

    Science.gov (United States)

    Menear, Kristi S.; Davis, Timothy D.

    2015-01-01

    This article describes the gross motor assessment team (GMAT) members' roles and collaborative approach to making appropriate decisions and modifications when addressing the needs of individuals with disabilities in physical education. Case studies of students are used to demonstrate effective uses of the GMAT. The primary outcome of the GMAT's…

  15. 40 CFR 403.15 - Net/Gross calculation.

    Science.gov (United States)

    2010-07-01

    ... STANDARDS GENERAL PRE-TREAT-MENT REGULATIONS FOR EXIST-ING AND NEW SOURCES OF POLLUTION § 403.15 Net/Gross... pollutants in the Industrial User's intake water in accordance with this section. Any Industrial User wishing... of the Industrial User, the applicable Standard will be calculated on a “net” basis (i.e., adjusted...

  16. Rubriek 'Meten in de praktijk': Gross Motor Function Measure.

    NARCIS (Netherlands)

    Veenhof, C.; Ketelaar, M.

    2004-01-01

    De Gross Motor Function Measure (GMFM) is een instrument dat de grof-motorische vaardigheden meet van kinderen met cerebrale parese. De GMFM is expliciet ontwikkeld als evaluatief meetinstrument, wat betekent dat het bedoeld is om veranderingen over de tijd of verandering en die optreden na behandel

  17. Development of the Gross Motor Function Classification System (1997)

    Science.gov (United States)

    Morris, Christopher

    2008-01-01

    To address the need for a standardized system to classify the gross motor function of children with cerebral palsy, the authors developed a five-level classification system analogous to the staging and grading systems used in medicine. Nominal group process and Delphi survey consensus methods were used to examine content validity and revise the…

  18. Effective Collaboration among the Gross Motor Assessment Team Members

    Science.gov (United States)

    Menear, Kristi S.; Davis, Timothy D.

    2015-01-01

    This article describes the gross motor assessment team (GMAT) members' roles and collaborative approach to making appropriate decisions and modifications when addressing the needs of individuals with disabilities in physical education. Case studies of students are used to demonstrate effective uses of the GMAT. The primary outcome of the GMAT's…

  19. Assessing Gross Motor Skills of Kosovar Preschool Children

    Science.gov (United States)

    Shala, Merita

    2009-01-01

    In the light of the new developments in preschool education in Kosovo, this study attempts to carry out an assessment of the development of gross motor skills of preschool children attending institutional education. The emphasis is on creating a set of tests to measure the motor attainments of these children by conducting assessments of the…

  20. 78 FR 26575 - Gross Combination Weight Rating; Definition

    Science.gov (United States)

    2013-05-07

    ... Weight Rating; Definition AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION... definition of ``gross combination weight rating'' (or GCWR) to clarify that a GCWR is the greater of: the....regulations.gov . Fax: 1-202-493-2251. Mail: Docket Management Facility (M-30), U.S. Department of...

  1. Gross and Microscopic Lesions in Corals from Micronesia.

    Science.gov (United States)

    Work, T M; Aeby, G S; Hughen, K A

    2016-01-01

    The authors documented gross and microscopic morphology of lesions in corals on 7 islands spanning western, southern, and eastern Micronesia, sampling 76 colonies comprising 30 species of corals among 18 genera, with Acropora, Porites, and Montipora dominating. Tissue loss comprised the majority of gross lesions sampled (41%), followed by discoloration (30%) and growth anomaly (29%). Of 31 cases of tissue loss, most lesions were subacute (48%), followed by acute and chronic (26% each). Of 23 samples with discoloration, most were dark discoloration (40%), with bleaching and other discoloration each constituting 30%. Of 22 growth anomalies, umbonate growth anomalies composed half, with exophytic, nodular, and rugose growth anomalies composing the remainder. On histopathology, for 9 cases of dark discoloration, fungal infections predominated (77%); for 7 bleached corals, depletion of zooxanthellae from the gastrodermis made up a majority of microscopic diagnoses (57%); and for growth anomalies other than umbonate, hyperplasia of the basal body wall was the most common microscopic finding (63%). For the remainder of the gross lesions, no single microscopic finding constituted >50% of the total. Host response varied with the agent present on histology. Fragmentation of tissues was most often associated with algae (60%), whereas necrosis dominated (53%) for fungi. Two newly documented potentially symbiotic tissue-associated metazoans were seen in Porites and Montipora. Findings of multiple potential etiologies for a given gross lesion highlight the importance of incorporating histopathology in coral disease surveys. This study also expands the range of corals infected with cell-associated microbial aggregates.

  2. Gross and microscopic lesions in corals from Micronesia

    Science.gov (United States)

    Work, Thierry M.; Aeby, Greta S.; Hughen, Konrad A.

    2015-01-01

    The authors documented gross and microscopic morphology of lesions in corals on 7 islands spanning western, southern, and eastern Micronesia, sampling 76 colonies comprising 30 species of corals among 18 genera, with Acropora, Porites, and Montipora dominating. Tissue loss comprised the majority of gross lesions sampled (41%), followed by discoloration (30%) and growth anomaly (29%). Of 31 cases of tissue loss, most lesions were subacute (48%), followed by acute and chronic (26% each). Of 23 samples with discoloration, most were dark discoloration (40%), with bleaching and other discoloration each constituting 30%. Of 22 growth anomalies, umbonate growth anomalies composed half, with exophytic, nodular, and rugose growth anomalies composing the remainder. On histopathology, for 9 cases of dark discoloration, fungal infections predominated (77%); for 7 bleached corals, depletion of zooxanthellae from the gastrodermis made up a majority of microscopic diagnoses (57%); and for growth anomalies other than umbonate, hyperplasia of the basal body wall was the most common microscopic finding (63%). For the remainder of the gross lesions, no single microscopic finding constituted >50% of the total. Host response varied with the agent present on histology. Fragmentation of tissues was most often associated with algae (60%), whereas necrosis dominated (53%) for fungi. Two newly documented potentially symbiotic tissue-associated metazoans were seen in Porites and Montipora. Findings of multiple potential etiologies for a given gross lesion highlight the importance of incorporating histopathology in coral disease surveys. This study also expands the range of corals infected with cell-associated microbial aggregates.

  3. Happy Life Years: a measure of Gross National Happiness

    NARCIS (Netherlands)

    R. Veenhoven (Ruut)

    2004-01-01

    textabstractHappiness is defined as the degree to which a person enjoys his or her life-as-a-whole. Accordingly ‘Gross National Happiness’ is defined as the degree to which citizens in a country enjoy the life they live. Individual happiness can be measured by self-report on a single standard

  4. 77 FR 51706 - Gross Combination Weight Rating (GCWR); Definition

    Science.gov (United States)

    2012-08-27

    ... Federal Motor Carrier Safety Administration 49 CFR Parts 383 and 390 RIN 2126-AB53 Gross Combination Weight Rating (GCWR); Definition AGENCY: Federal Motor Carrier Safety Administration (FMCSA), DOT. ACTION: Direct final rule; request for comments. SUMMARY: The Federal Motor Carrier Safety Administration...

  5. Strategic improvements for gross anatomy web-based teaching.

    Science.gov (United States)

    Marker, David R; Juluru, Krishna; Long, Chris; Magid, Donna

    2012-01-01

    Current generations of graduate students have been immersed in technology from their early school years and have high expectations regarding digital resources. To better meet the expectations of Gross Anatomy students at our institution, electronic radiology teaching files for first-year coursework were organized into a web site. The web site was custom designed to provide material that directly correlated to the Gross Anatomy dissection and lectures. Quick links provided sets of images grouped by anatomic location. Additionally, Lab and Study Companions provided specific material for the students to review prior to and after lectures and gross dissections. Student opinions of this education resource were compared to student opinions of the prior year's digital teaching files. The new content was ranked as more user friendly (3.1 points versus 2.3 points) and more useful for learning anatomy (3.3 points versus 2.6 points). Many students reported that using the web portal was critical in helping them to better understand relationships of anatomical structures. These findings suggest that a well-organized web portal can provide a user-friendly, valuable educational resource for medical students who are studying Gross Anatomy.

  6. Fine and Gross Motor Ability in Males with ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-09-01

    Full Text Available Both fine and gross motor abilities were evaluated in 10-year-old males with attention deficit hyperactivity disorder (ADHD and compared to a group of control children at the School of Psychology, Curtin University of Technology, Perth, Australia.

  7. Construction of 2-dimensional Grosse-Wulkenhaar Model

    CERN Document Server

    Wang, Zhituo

    2011-01-01

    In this paper we construct the noncommutative Grosse-Wulkenhaar model on 2-dimensional Moyal plane with the method of loop vertex expansion. We treat renormalization with this new tool, adapt Nelson's argument and prove Borel summability of the perturbation series. This is the first non-commutative quantum field theory model to be built in a non-perturbative sense.

  8. Monopol suretab kohaliku loomakasvataja / Oleg Gross ; interv . Illar Mõttus

    Index Scriptorium Estoniae

    Gross, Oleg, 1952-

    2005-01-01

    Väike-Maarja jäätmetehase monopoolse seisundi vastu sõna võtnud OG Elektra omanik Oleg Gross on kindel, et jäätmetehasega suretatakse kohalikud väiksemad lihatootjad välja. Kommenteerivad talupidaja Jüri Järvet ja Rakvere Lihakombinaadi direktor Olle Horm

  9. ɛ-expansion in the Gross-Neveu

    Science.gov (United States)

    Raju, Avinash

    2016-10-01

    We use the recently developed CFT techniques of Rychkov and Tan to compute anomalous dimensions in the O( N ) Gross-Neveu model in d = 2 + ɛ dimensions. To do this, we extend the "cowpie contraction" algorithm of arXiv:1506.06616 to theories with fermions. Our results match perfectly with Feynman diagram computations.

  10. Barn music at St Donat's castle / Philip Gross

    Index Scriptorium Estoniae

    Gross, Philip, 1952-

    2011-01-01

    Muusikafestivalist "Vale of Glamorgan", mis oli 2010. a. pühendatud Arvo Pärdile. Eesti kammermuusikaansambli Resonabilis kavas oli ka festivali tellimusel valminud uelsi helilooja Gareth Peredur Churchilli "Vocable", mille teksti kirjutas Philip Gross. Festivalikontsertide muljeid leiab Grossi luuletsüklis "Barn music" (avaldatud samas ajakirjanumbris, lk. 42-43)

  11. Samuel D. Gross: the nestor of American surgery.

    Science.gov (United States)

    Toledo-Pereyra, Luis H

    2006-01-01

    Samuel David Gross (1805-1884) represented the most notable surgeon of his generation and was honored with the title of "The Nestor of American Surgeon" by surgeon biographer Isaac Minis Hays. Of Pennsylvania Dutch stock, he was born on the family farm near Easton, Pennsylvania. He attended Wilkebarré Academy and Lawrenceville High School, noted private institutions of the day. He apprenticed under Doctor Joseph K. Swift of Easton and later with Professor George McClellan while in Philadelphia. In 1828, he graduated from Jefferson Medical College and remained for a short time in Philadelphia. Professor Gross focused his professional pursuits in the cities of Easton (1830-1833), Cincinnati (1833-1840), Louisville (1840-1856), and Philadelphia (1856-1882). He retired from Jefferson Medical College two years before his death in 1884. Samuel D. Gross' contributions to surgery were numerous and diverse. He was recognized as a prolific author of classic texts of pathology, surgery, and history, an educator, a leader, a surgical researcher, and a pioneer surgeon practitioner. His influence in national affairs was immense, and his recognition as a respected surgeon was unmatched. He remains the most distinguished surgeon of his times. History values him as a hard working, honest, highly competent, and committed individual. His capacity for work and his dedication to a single cause were unrivaled. Doctor Gross integrated the best that surgery could give to future generations of surgical professionals.

  12. Attitudes of Healthcare Students on Gross Anatomy Laboratory Sessions

    Science.gov (United States)

    Kawashiro, Yukiko; Anahara, Reiko; Kohno, Toshihiko; Mori, Chisato; Matsuno, Yoshiharu

    2009-01-01

    At Chiba University, gross anatomy laboratory sessions ("laboratories") are required for physical therapy students. Though most physical therapy schools require their students to participate in laboratories so that they will better understand the structure of the human body, few data exist on the value of these laboratories specifically…

  13. Uniqueness of Meromorphic Functions and Question of Gross

    Institute of Scientific and Technical Information of China (English)

    仪洪勋

    1994-01-01

    In this paper, we deal with the problem of uniqueness of meromorphic functions. It is shown that there exist two finite sets Sj (j=1, 2) such that any two nonconstant meromorphic functions f and g satisfying Ef(Sj)=Eg(Sj) for j = 1,2 must be identical, which answers a question posed by Gross.

  14. Interlimb Coordination: An Important Facet of Gross-Motor Ability

    Science.gov (United States)

    Bobbio, Tatiana; Gabbard, Carl; Cacola, Priscila

    2009-01-01

    Motor development attains landmark significance during early childhood. Although early childhood educators may be familiar with the gross-motor skill category, the subcategory of interlimb coordination needs greater attention than it typically receives from teachers of young children. Interlimb coordination primarily involves movements requiring…

  15. Barn music at St Donat's castle / Philip Gross

    Index Scriptorium Estoniae

    Gross, Philip, 1952-

    2011-01-01

    Muusikafestivalist "Vale of Glamorgan", mis oli 2010. a. pühendatud Arvo Pärdile. Eesti kammermuusikaansambli Resonabilis kavas oli ka festivali tellimusel valminud uelsi helilooja Gareth Peredur Churchilli "Vocable", mille teksti kirjutas Philip Gross. Festivalikontsertide muljeid leiab Grossi luuletsüklis "Barn music" (avaldatud samas ajakirjanumbris, lk. 42-43)

  16. 75 FR 15610 - Exclusions From Gross Income of Foreign Corporations

    Science.gov (United States)

    2010-03-30

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF THE TREASURY Internal Revenue Service 26 CFR Part 1 Exclusions From Gross Income of Foreign Corporations CFR Correction In Title 26 of the Code of Federal Regulations, Part 1 (Sec. Sec. 1.851 to 1.907), revised as...

  17. Gross Motor Development, Movement Abnormalities, and Early Identification of Autism

    Science.gov (United States)

    Ozonoff, Sally; Young, Gregory S.; Goldring, Stacy; Greiss-Hess, Laura; Herrera, Adriana M.; Steele, Joel; Macari, Suzanne; Hepburn, Susan; Rogers, Sally J.

    2008-01-01

    Gross motor development (supine, prone, rolling, sitting, crawling, walking) and movement abnormalities were examined in the home videos of infants later diagnosed with autism (regression and no regression subgroups), developmental delays (DD), or typical development. Group differences in maturity were found for walking, prone, and supine, with…

  18. Outcomes of a Rotational Dissection System in Gross Anatomy

    Science.gov (United States)

    Marshak, David W.; Oakes, Joanne; Hsieh, Pei-Hsuan; Chuang, Alice Z.; Cleary, Leonard J.

    2015-01-01

    At the University of Texas Houston Medical School, a rotational dissection system was introduced to improve coordination between the Gross Anatomy and the Introduction to Clinical Medicine (ICM) courses. Six students were assigned to each cadaver and divided into two teams. For each laboratory, one team was assigned to dissect and the other to…

  19. Strategic Improvements for Gross Anatomy Web-Based Teaching

    Directory of Open Access Journals (Sweden)

    David R. Marker

    2012-01-01

    Full Text Available Current generations of graduate students have been immersed in technology from their early school years and have high expectations regarding digital resources. To better meet the expectations of Gross Anatomy students at our institution, electronic radiology teaching files for first-year coursework were organized into a web site. The web site was custom designed to provide material that directly correlated to the Gross Anatomy dissection and lectures. Quick links provided sets of images grouped by anatomic location. Additionally, Lab and Study Companions provided specific material for the students to review prior to and after lectures and gross dissections. Student opinions of this education resource were compared to student opinions of the prior year’s digital teaching files. The new content was ranked as more user friendly (3.1 points versus 2.3 points and more useful for learning anatomy (3.3 points versus 2.6 points. Many students reported that using the web portal was critical in helping them to better understand relationships of anatomical structures. These findings suggest that a well-organized web portal can provide a user-friendly, valuable educational resource for medical students who are studying Gross Anatomy.

  20. CIRCLE OF WILLIS: VARIANT FORMS AND THEIR EMBRYOLOGY USING GROSS DISSECTION AND MAGNETIC RESONANCE ANGIOGRAPHY

    Directory of Open Access Journals (Sweden)

    Bishwajeet Saikia

    2014-06-01

    Full Text Available Background: The circle of Willis is a large arterial anastomotic ring present at the base of the brain uniting the internal carotid and the vertebrobasilar systems. Branches from the internal carotid and vertebral arteries anastomose to form an arterial circle in the basal cisterns and then distribute to supply the brain. The anatomy of the circle is known to vary significantly; the vessels may be absent or sufficiently narrowed altering the hemodynamics of the circle of Willis and affecting its role as a collateral route. These variant forms can be correlated to their phylogeny and embryology. Prior knowledge of these variant forms is important in pathologies and treatment (e.g. parent artery occlusion for carotid aneurysms resulting occlusion of carotid and vertebral arteries. Context and purpose: Our study was undertaken to observe and compare the morphology of circle of Willis using two entirely different methods; gross dissection (GD and Magnetic resonance angiography (MRA and to correlate the variant patterns encountered with the possible underlying developmental events. Gross dissection was carried out in 70 human cadavers and equal numbers of MRA’s of healthy individuals were studied retrospectively. Results: Only 31 cases (22.14% presented with a complete circle of Willis, out of which 14 (20% were cadaveric specimen and 17 (24.18% were in MRA group. Unilateral hypoplastic posterior communicating artery was the most common variation observed in our study (19.28%. Conclusions: The wide variation in completeness of the circle of Willis in general population is similar to earlier observations. Review of phylogeny and embryology makes us familiar with variant forms which would be otherwise difficult to recognize and may be misinterpreted. MRA and gross dissection findings despite certain variations are comparable.

  1. Degeneration of the long biceps tendon: comparison of MRI with gross anatomy and histology.

    Science.gov (United States)

    Buck, Florian M; Grehn, Holger; Hilbe, Monika; Pfirrmann, Christian W A; Manzanell, Silvana; Hodler, Jürg

    2009-11-01

    The objective of our study was to relate alterations in biceps tendon diameter and signal on MR images to gross anatomy and histology. T1-weighted, T2-weighted fat-saturated, and proton density-weighted fat-saturated spin-echo sequences were acquired in 15 cadaveric shoulders. Biceps tendon diameter (normal, flattened, thickened, and partially or completely torn) and signal intensity (compared with bone, fat, muscle, and joint fluid) were graded by two readers independently and in a blinded fashion. The distance of tendon abnormalities from the attachment at the glenoid were noted in millimeters. MRI findings were related to gross anatomic and histologic findings. On the basis of gross anatomy, there were six normal, five flattened, two thickened, and two partially torn tendons. Reader 1 graded nine diameter changes correctly, missed two, and incorrectly graded four. The corresponding values for reader 2 were seven, one, and five, respectively, with kappa = 0.75. Histology showed mucoid degeneration (n = 13), lipoid degeneration (n = 7), and fatty infiltration (n = 6). At least one type of abnormality was found in each single tendon. Mucoid degeneration was hyperintense compared with fatty infiltration on T2-weighted fat-saturated images and hyperintense compared with magic-angle artifacts on proton density-weighted fat-saturated images. MRI-based localization of degeneration agreed well with histologic findings. Diameter changes are specific but not sensitive in diagnosing tendinopathy of the biceps tendon. Increased tendon signal is most typical for mucoid degeneration but should be used with care as a sign of tendon degeneration.

  2. EFFECT OF GESTATIONAL DIABETES MELLITUS ON GROSS MORPHOLOGY OF PLACENTA: A COMPARATIVE STUDY

    Directory of Open Access Journals (Sweden)

    Pankaj Saini

    2015-03-01

    Full Text Available Background: The fetus, placenta and mother constitute a triad of contributors to pregnancy outcome. When pregnancy is complicated by a medical problem like, diabetes mellitus which affects maternal health, architecture and functions of the placenta may even jeopardize the fetal normalcy. The placenta being the bridge between maternal and fetal activities, considered as a window through which maternal dysfunctions and their impacts on fetal well being can be understood. Aim: The aim was to study gross morphology of placentae of women with gestational diabetes mellitus and to compare the results with normal pregnancies. Methods: It was an observational study. After due approval from institutional ethics committee, 40 placentae from pregnant women clinically diagnosed with gestational diabetes mellitus and 40 placentae from uncomplicated normal pregnant women were collected from labour room and operation theatre of department of obstetrics and gynaecology of government medical college hospital in Jaipur (Rajasthan. Confirmed gestational diabetic cases were selected purposively while controls were taken sequentially. Gross morphological features of each placenta were recorded. The statistical methods used were unpaired ‘t’ test and chi square test. Results: The results showed that weight, diameter, surface area, central thickness and number of cotyledons of placentae from diabetic mothers were significantly more than placentae from normal uncomplicated pregnancies, while no significant differences were observed in shape and site of umbilical cord insertion. Conclusion: The gross morphology of placentae with gestational diabetes mellitus significantly differs from normal pregnancies which may be associated with alteration in physiological functioning of placenta and ultimately fetal outcome.

  3. Dynamics of X Chromosome Inactivation

    NARCIS (Netherlands)

    F. Loos (Friedemann)

    2015-01-01

    markdownabstract__Abstract__ Dosage compensation evolved to account for the difference in expression of sex chromosome-linked genes. In mammals dosage compensation is achieved by inactivation of one X chromosome during early female embryogenesis in a process called X chromosome inactivation (XCI).

  4. The contribution of chromosomal translocations to antigenic variation in Trypanosoma brucei.

    Science.gov (United States)

    Van der Ploeg, L H; Cornelissen, A W

    1984-11-13

    Genomic rearrangements influencing gene expression occur throughout nature. Several of these rearrangements disrupt normal gene expression, as exemplified by the genetic alterations caused by the mobile genetic elements of maize or Drosophila (see Shapiro 1983). Other rearrangements are part of the normal developmental programme of an organism. An understanding of the control of genomic rearrangements and their effects on gene expression should contribute to our insight into the mechanism of genetic programming and cellular development. The protozoan parasite Trypanosoma brucei exhibits a variety of genomic rearrangements that influence the expression of genes that code for versions of the variant surface glycoprotein (v.s.g.), which makes up the cell surface coat. V.s.g. genes are expressed in a mutually exclusive manner. Several v.s.g. genes are activated by duplicative transposition of the gene to a telomeric expression site where they are transcribed, while others can be activated without detectable genomic rearrangements. Recently we have been able to fractionate the chromosomes of T. brucei in agarose gels (Van der Ploeg et al. 1984 a). This led to the observations that duplicative transpositions occur inter-chromosomally and that the chromosomes of T. brucei are subject to frequent recombinations that displace hundreds of kilobase pairs. At least two and possibly more telomeric expression sites can be used for v.s.g. gene transcription. How these sites are activated and inactivated is still unsolved, but this does not depend on recombinations in the vicinity of the gene. Gross genomic rearrangements occur sometimes in correlation with antigenic switching and this suggests that such rearrangements have a function in regulating the mutually exclusive transcription of the different expression sites. V.s.g. genes consist of two exons. No physical linkage of the 35 nucleotide (n.t.) mini-exon to the v.s.g. gene main exon occurred within 15 kilobase pairs in

  5. Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

    Science.gov (United States)

    Guediche, N; Brisset, S; Benichou, J-J; Guérin, N; Mabboux, P; Maurin, M-L; Bas, C; Laroudie, M; Picone, O; Goldszmidt, D; Prévot, S; Labrune, P; Tachdjian, G

    2010-02-01

    The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.

  6. Micronucleus formation causes perpetual unilateral chromosome inheritance in mouse embryos.

    Science.gov (United States)

    Vázquez-Diez, Cayetana; Yamagata, Kazuo; Trivedi, Shardul; Haverfield, Jenna; FitzHarris, Greg

    2016-01-19

    Chromosome segregation defects in cancer cells lead to encapsulation of chromosomes in micronuclei (MN), small nucleus-like structures within which dangerous DNA rearrangements termed chromothripsis can occur. Here we uncover a strikingly different consequence of MN formation in preimplantation development. We find that chromosomes from within MN become damaged and fail to support a functional kinetochore. MN are therefore not segregated, but are instead inherited by one of the two daughter cells. We find that the same MN can be inherited several times without rejoining the principal nucleus and without altering the kinetics of cell divisions. MN motion is passive, resulting in an even distribution of MN across the first two cell lineages. We propose that perpetual unilateral MN inheritance constitutes an unexpected mode of chromosome missegregation, which could contribute to the high frequency of aneuploid cells in mammalian embryos, but simultaneously may serve to insulate the early embryonic genome from chromothripsis.

  7. Familial complex chromosomal rearrangement resulting in a recombinant chromosome.

    Science.gov (United States)

    Berend, Sue Ann; Bodamer, Olaf A F; Shapira, Stuart K; Shaffer, Lisa G; Bacino, Carlos A

    2002-05-15

    Familial complex chromosomal rearrangements (CCRs) are rare and tend to involve fewer breakpoints and fewer chromosomes than CCRs that are de novo in origin. We report on a CCR identified in a child with congenital heart disease and dysmorphic features. Initially, the child's karyotype was thought to involve a straightforward three-way translocation between chromosomes 3, 8, and 16. However, after analyzing the mother's chromosomes, the mother was found to have a more complex rearrangement that resulted in a recombinant chromosome in the child. The mother's karyotype included an inverted chromosome 2 and multiple translocations involving chromosomes 3, 5, 8, and 16. No evidence of deletion or duplication that could account for the clinical findings in the child was identified.

  8. Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

    Directory of Open Access Journals (Sweden)

    Bani Bandana Ganguly

    2011-01-01

    Full Text Available Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromosomes identified a balanced translocation, t(6;10(p23;q24, in mother and an unbalanced rearrangement, der(6t(6:10(p23;q24mat, in the child. The child has inherited a derivative chromosome 6 with partial deletion of 6(p23-pter and partial trisomy 10(q24-qter, which has resulted in fusion of genes of two different chromosomes. The prominent phenotypic features of del(6p, including high forehead, flat nasal bridge, agenesis of left ear, atrial septal defect (ASD, craniosynostosis, and growth retardation, are overlapping with specific Axenfeld-Reiger-, Larsen-, and Ritscher-Sinzel/3-C syndromes, however, lacking in ocular anomalies, skeletal laxity, or cerebellar malformation. Therefore, this paper rules out the isolated effect of del(6p23 or trisomy 10(q24 on distinct previously reported syndromes and proposes the combined effect of unbalanced chromosomal alteration.

  9. Chromosome structuring limits genome plasticity in Escherichia coli.

    Directory of Open Access Journals (Sweden)

    Emilie Esnault

    2007-12-01

    Full Text Available Chromosome organizations of related bacterial genera are well conserved despite a very long divergence period. We have assessed the forces limiting bacterial genome plasticity in Escherichia coli by measuring the respective effect of altering different parameters, including DNA replication, compositional skew of replichores, coordination of gene expression with DNA replication, replication-associated gene dosage, and chromosome organization into macrodomains. Chromosomes were rearranged by large inversions. Changes in the compositional skew of replichores, in the coordination of gene expression with DNA replication or in the replication-associated gene dosage have only a moderate effect on cell physiology because large rearrangements inverting the orientation of several hundred genes inside a replichore are only slightly detrimental. By contrast, changing the balance between the two replication arms has a more drastic effect, and the recombinational rescue of replication forks is required for cell viability when one of the chromosome arms is less than half than the other one. Macrodomain organization also appears to be a major factor restricting chromosome plasticity, and two types of inverted configurations severely affect the cell cycle. First, the disruption of the Ter macrodomain with replication forks merging far from the normal replichore junction provoked chromosome segregation defects. The second major problematic configurations resulted from inversions between Ori and Right macrodomains, which perturb nucleoid distribution and early steps of cytokinesis. Consequences for the control of the bacterial cell cycle and for the evolution of bacterial chromosome configuration are discussed.

  10. IMACULAT - an open access package for the quantitative analysis of chromosome localization in the nucleus.

    Directory of Open Access Journals (Sweden)

    Ishita Mehta

    Full Text Available The alteration in the location of the chromosomes within the nucleus upon action of internal or external stimuli has been implicated in altering genome function. The effect of stimuli at a whole genome level is studied by using two-dimensional fluorescence in situ hybridization (FISH to delineate whole chromosome territories within a cell nucleus, followed by a quantitative analysis of the spatial distribution of the chromosome. However, to the best of our knowledge, open access software capable of quantifying spatial distribution of whole chromosomes within cell nucleus is not available. In the current work, we present a software package that computes localization of whole chromosomes - Image Analysis of Chromosomes for computing localization (IMACULAT. We partition the nucleus into concentric elliptical compartments of equal area and the variance in the quantity of any chromosome in these shells is used to determine its localization in the nucleus. The images are pre-processed to remove the smudges outside the cell boundary. Automation allows high throughput analysis for deriving statistics. Proliferating normal human dermal fibroblasts were subjected to standard a two-dimensional FISH to delineate territories for all human chromosomes. Approximately 100 images from each chromosome were analyzed using IMACULAT. The analysis corroborated that these chromosome territories have non-random gene density based organization within the interphase nuclei of human fibroblasts. The ImageMagick Perl API has been used for pre-processing the images. The source code is made available at www.sanchak.com/imaculat.html.

  11. Activation of proto-oncogenes by disruption of chromosome neighborhoods.

    Science.gov (United States)

    Hnisz, Denes; Weintraub, Abraham S; Day, Daniel S; Valton, Anne-Laure; Bak, Rasmus O; Li, Charles H; Goldmann, Johanna; Lajoie, Bryan R; Fan, Zi Peng; Sigova, Alla A; Reddy, Jessica; Borges-Rivera, Diego; Lee, Tong Ihn; Jaenisch, Rudolf; Porteus, Matthew H; Dekker, Job; Young, Richard A

    2016-03-25

    Oncogenes are activated through well-known chromosomal alterations such as gene fusion, translocation, and focal amplification. In light of recent evidence that the control of key genes depends on chromosome structures called insulated neighborhoods, we investigated whether proto-oncogenes occur within these structures and whether oncogene activation can occur via disruption of insulated neighborhood boundaries in cancer cells. We mapped insulated neighborhoods in T cell acute lymphoblastic leukemia (T-ALL) and found that tumor cell genomes contain recurrent microdeletions that eliminate the boundary sites of insulated neighborhoods containing prominent T-ALL proto-oncogenes. Perturbation of such boundaries in nonmalignant cells was sufficient to activate proto-oncogenes. Mutations affecting chromosome neighborhood boundaries were found in many types of cancer. Thus, oncogene activation can occur via genetic alterations that disrupt insulated neighborhoods in malignant cells.

  12. Chromosome 19 International Workshop

    Energy Technology Data Exchange (ETDEWEB)

    Pericak-Vance, M.A. (Duke Univ., Durham, NC (United States). Medical Center); Ropers, H.H. (Univ. Hospital Nijmegen, (The Netherlands). Dept. of Human Genetics); Carrano, A.J. (Lawrence Livermore National Lab., CA (United States))

    1993-01-04

    The Second International Workshop on Human Chromosome 19 was hosted on January 25 and 26, 1992, by the Department of Human Genetics, University Hospital Nijmegen, The Netherlands, at the 'Meerdal Conference Center'. The workshop was supported by a grant from the European Community obtained through HUGO, the Dutch Research Organization (NWO) and the Muscular Dystrophy Association (MDA). Travel support for American participants was provided by the Department of Energy. The goals of this workshop were to produce genetic, physical and integrated maps of chromosome 19, to identify inconsistencies and gaps, and to discuss and exchange resources and techniques available for the completion of these maps. The second day of the meeting was largely devoted to region or disease specific efforts. In particular, the meeting served as a platform for assessing and discussing the recent progress made into the molecular elucidation of myotonic dystrophy.

  13. Gross nitrous oxide production drives net nitrous oxide fluxes across a salt marsh landscape.

    Science.gov (United States)

    Yang, Wendy H; Silver, Whendee L

    2016-06-01

    Sea level rise will change inundation regimes in salt marshes, altering redox dynamics that control nitrification - a potential source of the potent greenhouse gas, nitrous oxide (N2 O) - and denitrification, a major nitrogen (N) loss pathway in coastal ecosystems and both a source and sink of N2 O. Measurements of net N2 O fluxes alone yield little insight into the different effects of redox conditions on N2 O production and consumption. We used in situ measurements of gross N2 O fluxes across a salt marsh elevation gradient to determine how soil N2 O emissions in coastal ecosystems may respond to future sea level rise. Soil redox declined as marsh elevation decreased, with lower soil nitrate and higher ferrous iron in the low marsh compared to the mid and high marshes (P Net N2 O fluxes differed significantly among marsh zones (P = 0.009), averaging 9.8 ± 5.4 μg N m(-2)  h(-1) , -2.2 ± 0.9 μg N m(-2)  h(-1) , and 0.67 ± 0.57 μg N m(-2)  h(-1) in the low, mid, and high marshes, respectively. Both net N2 O release and uptake were observed in the low and high marshes, but the mid-marsh was consistently a net N2 O sink. Gross N2 O production was highest in the low marsh and lowest in the mid-marsh (P = 0.02), whereas gross N2 O consumption did not differ among marsh zones. Thus, variability in gross N2 O production rates drove the differences in net N2 O flux among marsh zones. Our results suggest that future studies should focus on elucidating controls on the processes producing, rather than consuming, N2 O in salt marshes to improve our predictions of changes in net N2 O fluxes caused by future sea level rise.

  14. Structural organization of the inactive X chromosome in the mouse.

    Science.gov (United States)

    Giorgetti, Luca; Lajoie, Bryan R; Carter, Ava C; Attia, Mikael; Zhan, Ye; Xu, Jin; Chen, Chong Jian; Kaplan, Noam; Chang, Howard Y; Heard, Edith; Dekker, Job

    2016-07-28

    X-chromosome inactivation (XCI) involves major reorganization of the X chromosome as it becomes silent and heterochromatic. During female mammalian development, XCI is triggered by upregulation of the non-coding Xist RNA from one of the two X chromosomes. Xist coats the chromosome in cis and induces silencing of almost all genes via its A-repeat region, although some genes (constitutive escapees) avoid silencing in most cell types, and others (facultative escapees) escape XCI only in specific contexts. A role for Xist in organizing the inactive X (Xi) chromosome has been proposed. Recent chromosome conformation capture approaches have revealed global loss of local structure on the Xi chromosome and formation of large mega-domains, separated by a region containing the DXZ4 macrosatellite. However, the molecular architecture of the Xi chromosome, in both the silent and expressed regions,remains unclear. Here we investigate the structure, chromatin accessibility and expression status of the mouse Xi chromosome in highly polymorphic clonal neural progenitors (NPCs) and embryonic stem cells. We demonstrate a crucial role for Xist and the DXZ4-containing boundary in shaping Xi chromosome structure using allele-specific genome-wide chromosome conformation capture (Hi-C) analysis, an assay for transposase-accessible chromatin with high throughput sequencing (ATAC-seq) and RNA sequencing. Deletion of the boundary disrupts mega-domain formation, and induction of Xist RNA initiates formation of the boundary and the loss of DNA accessibility. We also show that in NPCs, the Xi chromosome lacks active/inactive compartments and topologically associating domains (TADs), except around genes that escape XCI. Escapee gene clusters display TAD-like structures and retain DNA accessibility at promoter-proximal and CTCF-binding sites. Furthermore, altered patterns of facultative escape genes indifferent neural progenitor clones are associated with the presence of different TAD

  15. Genetic and chromosomal alterations in Kenyan Wilms Tumor

    DEFF Research Database (Denmark)

    Lovvorn, Harold N; Pierce, Janene; Libes, Jaime

    2015-01-01

    Wilms tumor (WT) is the most common childhood kidney cancer worldwide and poses a cancer health disparity to black children of sub-Saharan African ancestry. Although overall survival from WT at 5 years exceeds 90% in developed countries, this pediatric cancer is alarmingly lethal in sub-Saharan A......Wilms tumor (WT) is the most common childhood kidney cancer worldwide and poses a cancer health disparity to black children of sub-Saharan African ancestry. Although overall survival from WT at 5 years exceeds 90% in developed countries, this pediatric cancer is alarmingly lethal in sub...... prognostic indicator of WT biology in developed countries, was detected in 32% of KWT analyzed, and 89% of these children are deceased. Similarly, LOH at 11q was detected in 32% of KWT, and 80% of these patients are deceased. From this genomic analysis, KWT biology appears uniquely aggressive and treatment-resistant....

  16. Chromosomal instability in near-diploid colorectal cancer: a link between numbers and structure.

    Directory of Open Access Journals (Sweden)

    Martine Muleris

    Full Text Available Chromosomal instability (CIN plays a crucial role in tumor development and occurs mainly as the consequence of either missegregation of normal chromosomes (MSG or structural rearrangement (SR. However, little is known about the respective chromosomal targets of MSG and SR and the way these processes combined within tumors to generate CIN. To address these questions, we karyotyped a consecutive series of 96 near-diploid colorectal cancers (CRCs and distinguished chromosomal changes generated by either MSG or SR in tumor cells. Eighty-three tumors (86% presented with chromosomal abnormalities that contained both MSGs and SRs to varying degrees whereas all 13 others (14% showed normal karyotype. Using a maximum likelihood statistical method, chromosomes affected by MSG or SR and likely to represent changes that are selected for during tumor progression were found to be different and mostly mutually exclusive. MSGs and SRs were not randomly associated within tumors, delineating two major pathways of chromosome alterations that consisted of either chromosome gains by MSG or chromosomal losses by both MSG and SR. CRCs showing microsatellite instability (MSI presented with either normal karyotype or chromosome gains whereas MSS (microsatellite stable CRCs exhibited a combination of the two pathways. Taken together, these data provide new insights into the respective involvement of MSG and SR in near-diploid colorectal cancers, showing how these processes target distinct portions of the genome and result in specific patterns of chromosomal changes according to MSI status.

  17. Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient.

    Science.gov (United States)

    Plaisancié, Julie; Kleinfinger, Pascale; Cances, Claude; Bazin, Anne; Julia, Sophie; Trost, Detlef; Lohmann, Laurence; Vigouroux, Adeline

    2014-10-01

    Structural alterations in chromosomes are a frequent cause of cancers and congenital diseases. Recently, the phenomenon of chromosome crisis, consisting of a set of tens to hundreds of clustered genomic rearrangements, localized in one or a few chromosomes, was described in cancer cells under the term chromothripsis. Better knowledge and recognition of this catastrophic chromosome event has brought to light two distinct entities, chromothripsis and chromoanasynthesis. The complexity of these rearrangements and the original descriptions in tumor cells initially led to the thought that it was an acquired anomaly. In fact, a few patients have been reported with constitutional chromothripsis or chromoanasynthesis. Using microarray we identified a very complex chromosomal rearrangement in a patient who had a cytogenetically visible rearrangement of chromosome 18. The rearrangement contained more than 15 breakpoints localized on a single chromosome. Our patient displayed intellectual disability, behavioral troubles and craniofacial dysmorphism. Interestingly, the succession of duplications and triplications identified in our patient was not clustered on a single chromosomal region but spread over the entire chromosome 18. In the light of this new spectrum of chromosomal rearrangements, this report outlines the main features of these catastrophic events and discusses the underlying mechanism of the complex chromosomal rearrangement identified in our patient, which is strongly evocative of a chromoanasynthesis. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  18. Vast Portfolio Selection with Gross-exposure Constraints*

    Science.gov (United States)

    Fan, Jianqing; Zhang, Jingjin; Yu, Ke

    2012-01-01

    We introduce the large portfolio selection using gross-exposure constraints. We show that with gross-exposure constraint the empirically selected optimal portfolios based on estimated covariance matrices have similar performance to the theoretical optimal ones and there is no error accumulation effect from estimation of vast covariance matrices. This gives theoretical justification to the empirical results in Jagannathan and Ma (2003). We also show that the no-short-sale portfolio can be improved by allowing some short positions. The applications to portfolio selection, tracking, and improvements are also addressed. The utility of our new approach is illustrated by simulation and empirical studies on the 100 Fama-French industrial portfolios and the 600 stocks randomly selected from Russell 3000. PMID:23293404

  19. Vast Portfolio Selection with Gross-exposure Constraints().

    Science.gov (United States)

    Fan, Jianqing; Zhang, Jingjin; Yu, Ke

    2012-01-01

    We introduce the large portfolio selection using gross-exposure constraints. We show that with gross-exposure constraint the empirically selected optimal portfolios based on estimated covariance matrices have similar performance to the theoretical optimal ones and there is no error accumulation effect from estimation of vast covariance matrices. This gives theoretical justification to the empirical results in Jagannathan and Ma (2003). We also show that the no-short-sale portfolio can be improved by allowing some short positions. The applications to portfolio selection, tracking, and improvements are also addressed. The utility of our new approach is illustrated by simulation and empirical studies on the 100 Fama-French industrial portfolios and the 600 stocks randomly selected from Russell 3000.

  20. Gross-Pitaevski map as a chaotic dynamical system

    Science.gov (United States)

    Guarneri, Italo

    2017-03-01

    The Gross-Pitaevski map is a discrete time, split-operator version of the Gross-Pitaevski dynamics in the circle, for which exponential instability has been recently reported. Here it is studied as a classical dynamical system in its own right. A systematic analysis of Lyapunov exponents exposes strongly chaotic behavior. Exponential growth of energy is then shown to be a direct consequence of rotational invariance and for stationary solutions the full spectrum of Lyapunov exponents is analytically computed. The present analysis includes the "resonant" case, when the free rotation period is commensurate to 2 π , and the map has countably many constants of the motion. Except for lowest-order resonances, this case exhibits an integrable-chaotic transition.

  1. The San Andreas fault experiment. [gross tectonic plates relative velocity

    Science.gov (United States)

    Smith, D. E.; Vonbun, F. O.

    1973-01-01

    A plan was developed during 1971 to determine gross tectonic plate motions along the San Andreas Fault System in California. Knowledge of the gross motion along the total fault system is an essential component in the construction of realistic deformation models of fault regions. Such mathematical models will be used in the future for studies which will eventually lead to prediction of major earthquakes. The main purpose of the experiment described is the determination of the relative velocity of the North American and the Pacific Plates. This motion being so extremely small, cannot be measured directly but can be deduced from distance measurements between points on opposite sites of the plate boundary taken over a number of years.

  2. GLOBALIZATION AND GROSS DOMESTIC PRODUCT CONSTRUCTION IN ASEAN

    Directory of Open Access Journals (Sweden)

    Muhammad Sri Wahyudi Suliswanto

    2011-09-01

    Full Text Available There is no more doubt about the importance of economic growth, which can be calculated fromGross Domestic Product (GDP. This research analyzes the role of globalization on GDP inASEAN-5 by estimating panel data. It uses a fixed effect approach to accommodate various characteristicsin the countries. To accommodate such variation, it assumes that the intercepts variesacross these countries, while the slopes remain similar. Based on the estimation result, it suggeststhat net export and foreign direct investment represent the globalization process. Both have positiveand significant influences on GDP in the corresponding countries.Keywords: Globalization, international trade, foreign direct investment, gross domestic productJEL classification numbers: E01, F51, F43

  3. PREDICTION OF GROSS FEED EFFICIENCY IN ITALIAN HOLSTEIN FRIESIAN BULLS

    Directory of Open Access Journals (Sweden)

    Raffaella Finocchiaro

    2015-09-01

    Full Text Available The aim of this study was to predict gross feed efficiency of Italian Holstein Friesian bulls selected for production, functional and type traits. A total of 12,238 bulls, from the April 2015 genetic evaluation, were used. Predicted daily gross feed efficiency (pFE was obtained as ratio between milk yield (MY and predicted dry matter intake (pDMI. Phenotypic trend for MY, predicted body weight (pBW and pFE were calculated by the bull birth year. The results suggest that pFE can be successfully selected to increase profitability of dairy cattle using the current milk recording system. Direct measurements on DMI should be considered to confirm results of pFE obtained in the present study.

  4. Gross efficiency and energy expenditure in kayak ergometer exercise.

    Science.gov (United States)

    Gomes, B B; Mourão, L; Massart, A; Figueiredo, P; Vilas-Boas, J P; Santos, A M C; Fernandes, R J

    2012-08-01

    We purposed to study energy expenditure, power output and gross efficiency during kayak ergometer exercise in 12 elite sprint kayakers. 6 males (age 24.2±4.8 years, height 180.4±4.8 cm, body mass 79.7±8.5 kg) and 6 females (age 24.3±4.5 years, height 164.5±3.9 cm, body mass 65.4±3.5 kg), performed an incremental intermittent protocol on kayak ergometer with VO2 and blood lactate concentration assessment, a non-linear increase between power output and energy expenditure being observed. Paddling power output, energy expenditure and gross efficiency corresponding to VO2max averaged 199.92±50.41 W, 75.27±6.30 ml.kg - 1.min - 1, and 10.10±1.08%. Male kayakers presented higher VO2max, power output and gross efficiency at the VO2max, and lower heart rate and maximal lactate concentration than females, but no differences were found between genders regarding energy expenditure at VO2max. Aerobic and anaerobic components of energy expenditure evidenced a significant contribution of anaerobic energy sources in sprint kayak performance. Results also suggested the dependence of the gross efficiency on the changes in the amount of the aerobic and anaerobic contributions, at heavy and severe intensities. The inter-individual variance of the relationship between energy expenditure and the corresponding paddling power output revealed a relevant tracking for females (FDγ=0.73±0.06), conversely to the male group (FDγ=0.27±0.08), supporting that some male kayakers are more skilled in some paddling intensities than others.

  5. Constructive Renormalization of 2-dimensional Grosse-Wulkenhaar Model

    CERN Document Server

    Wang, Zhituo

    2012-01-01

    In this talk we briefly report the recent work on the construction of the 2-dimensional Grosse-Wulkenhaar model with the method of loop vertex expansion. We treat renormalization with this new tool, adapt Nelson's argument and prove Borel summability of the perturbation series. This is the first non-commutative quantum field theory model to be built in a non-perturbative sense.

  6. Comparative Genomics of Interreplichore Translocations in Bacteria: A Measure of Chromosome Topology?

    Science.gov (United States)

    Khedkar, Supriya; Seshasayee, Aswin Sai Narain

    2016-06-01

    Genomes evolve not only in base sequence but also in terms of their architecture, defined by gene organization and chromosome topology. Whereas genome sequence data inform us about the changes in base sequences for a large variety of organisms, the study of chromosome topology is restricted to a few model organisms studied using microscopy and chromosome conformation capture techniques. Here, we exploit whole genome sequence data to study the link between gene organization and chromosome topology in bacteria. Using comparative genomics across ∼250 pairs of closely related bacteria we show that: (a) many organisms show a high degree of interreplichore translocations throughout the chromosome and not limited to the inversion-prone terminus (ter) or the origin of replication (oriC); (b) translocation maps may reflect chromosome topologies; and (c) symmetric interreplichore translocations do not disrupt the distance of a gene from oriC or affect gene expression states or strand biases in gene densities. In summary, we suggest that translocation maps might be a first line in defining a gross chromosome topology given a pair of closely related genome sequences.

  7. Chromosomal aberrations related to metastasis of human solid tumors

    Institute of Scientific and Technical Information of China (English)

    Lun-Xiu Qin

    2002-01-01

    The central role of sequential accumulation of genetic alterations during the development of cancer has been firmly established since the pioneering cytogenetic studies successfully defined recurrent chromosome changes in spedfic types of tumor. In the course of carcinogenesis, cells experience several genetic alterations that are associated with the transition from a preneoplastic lesion to an invasive tumor and finally to the metastatic state. Tumor progression is characterized by stepwise accumulation of genetic alterations.So does the dominant metastatic clone. Modern molecular genetic analyses have clarified that genomic changes accumulate during the development and progression of cancers. In comparison with the corresponding primary tumor,additional events of chromosomal aberrations (including gains or allelic losses) are frequently found in metastases, and the incidence of combined chromosomal alterations in the primary tumor, plus the occurrence of additional aberrations inthe distant metastases, correlated significantly with decreased postmetastatic survival. The deletions at 3p, 4p, 6q, 8p, 10q,11p, 11q, 12p, 13q, 16q, 17p, 18q, 21q, and 22q, as well as the over-representations at 1q, 8q, 9q, 14q and 15q, have been found to associate preferentially with the metastatic phenotype of human cancers. Among of them, the deletions on chromosomes 8p, 17p, 11p and 13p seem to be more significant, and more detail fine regions of them, including 8p11, 8p21-12, 8p22, 8p23, 17p13.3, 11p15.5, and 13q12-13 have been suggested harboring metastasis-suppressor genes.During the past decade, several human chromosomes have been functionally tested through the use of microcell-mediated chromosome transfer (MMCT), and metastasis-suppressor activities have been reported on chromosomes 1, 6, 7, 8, 10,11, 12, 16, and 17. However, it is not actually known at what stage of the metastatic cascade these alterations have occurred.There is still controversial with the association

  8. Clonal chromosome abnormalites found in three non-neoplastic proliferative brain lesions

    Directory of Open Access Journals (Sweden)

    Rainho Cláudia Aparecida

    1999-01-01

    Full Text Available Chromosome analysis was made of brain lesions from three patients which, according to classical histopathological criteria, did not contain tumor cells. In addition to normal cells, we identified abnormal karyotypes with clonal numerical and structural chromosome alterations in at least two independently originated primary cultures from each lesion. Our data suggest that chromosomal aberrations can exist in vivo in non-neoplastic lesions. Other abnormalities may be due to genetic instability manifested only in vitro (culture artifacts or may already have been present in brain tissue, reflecting previous chromosome damage (as a result of exposure to chemical treatment or enviromental clastogens.

  9. Replication initiator DnaA binds at the Caulobacter centromere and enables chromosome segregation.

    Science.gov (United States)

    Mera, Paola E; Kalogeraki, Virginia S; Shapiro, Lucy

    2014-11-11

    During cell division, multiple processes are highly coordinated to faithfully generate genetically equivalent daughter cells. In bacteria, the mechanisms that underlie the coordination of chromosome replication and segregation are poorly understood. Here, we report that the conserved replication initiator, DnaA, can mediate chromosome segregation independent of replication initiation. It does so by binding directly to the parS centromere region of the chromosome, and mutations that alter this interaction result in cells that display aberrant centromere translocation and cell division. We propose that DnaA serves to coordinate bacterial DNA replication with the onset of chromosome segregation.

  10. Chromosome-wise Protein Interaction Patterns and Their Impact on Functional Implications of Large-Scale Genomic Aberrations

    DEFF Research Database (Denmark)

    Kirk, Isa Kristina; Weinhold, Nils; Belling, Kirstine González-Izarzugaza

    2017-01-01

    Gene copy-number changes influence phenotypes through gene-dosage alteration and subsequent changes of protein complex stoichiometry. Human trisomies where gene copy numbers are increased uniformly over entire chromosomes provide generic cases for studying these relationships. In most trisomies......, gene and protein level alterations have fatal consequences. We used genome-wide protein-protein interaction data to identify chromosome-specific patterns of protein interactions. We found that some chromosomes encode proteins that interact infrequently with each other, chromosome 21 in particular. We...

  11. Position effect modifying gene expression in a patient with ring chromosome 14.

    Science.gov (United States)

    Guilherme, Roberta Santos; Moysés-Oliveira, Mariana; Dantas, Anelisa Gollo; Meloni, Vera Ayres; Colovati, Mileny Esbravatti; Kulikowski, Leslie Domenici; Melaragno, Maria Isabel

    2016-05-01

    The clinical phenotype of patients with ring chromosomes usually reflects the loss of genomic material during ring formation. However, phenotypic alterations can also be found in the presence of complete ring chromosomes, in which the breakage and rejoining in terminal regions of both chromosome arms result in no gene loss. Here, we present a patient with a ring chromosome 14 that lost nothing but the telomeres. Since he and other patients with a similar chromosome abnormality present certain abnormal characteristics, we investigated the gene expression of eight chromosome 14 genes to find out whether the configuration of the ring had changed it, possibly producing some of these clinical features. The expression of these eight genes was studied by quantitative real-time polymerase chain reaction (qPCR) in the patient and in seven controls matched for gender and age. Two of them were found to be downregulated in the patient compared to the controls, indicating that his phenotype might be related to alterations in the expression of genes located in the abnormal chromosome, even when the copy number is normal. Thus, the phenotypic alterations found in the presence of complete ring chromosomes may be related to changes in the chromatin architecture, bringing about a change of expression by position effect. These results may explain some of the characteristics presented by our patient.

  12. Landscape History of Grosses Moos, NW Swiss Alpine Foreland.

    Science.gov (United States)

    Joanna Heer, Aleksandra; Adamiec, Grzegorz; Veit, Heinz; May, Jan-Hendrik; Novenko, Elena; Hajdas, Irka

    2017-04-01

    The western Swiss Plateau with Lake Neuchâtel is part of the alpine foreland and among the key areas for the reconstruction of environmental changes since the last postglacial. This study was carried out in a landscape located NE of the lake and called Grosses Moos (The Large Fen) - currently designated the Swiss largest, continuous farming area, after the fen was drained in course of landscape engineering projects performed in Switzerland at the end of the 19th century. The study contributes new results from nine excavations of littoral ridges identified in Grosses Moos, and integrates sedimentology, paleo-environmental analysis and three independent chronological methods. Radiocarbon dating, pollen analysis and optically stimulated luminescence (OSL) were applied to the sediments. While pollen and radiocarbon follow the standard procedures, the evaluation of the luminescence age estimates demanded adjustment according to the physical and microdosimetric properties of the alpine quartz, and consideration of the peculiarities of the changing littoral environments of Grosses Moos. The Grosses Moos landscape developed on the temporary surface of the post-Last Glacial sedimentary infill of the over-deepened glacial Aare valley. In this study the landscape history has been fitted into the existing supraregional time scales of NGRIP, the Swiss bio-zones system and the human history based on archaeological and historic records and covers a time span of up to 15'000 yr b2k. The wide-ranging suite of geomorphic features and sedimentary sequences, including littoral lake sediments, beach ridges, dunes, palaeo-channels, peat and colluvial deposits, enable the extensive reconstruction of spatially and temporally variable natural shaping processes. In addition, our results indicate remobilization of soil, colluvium, and sediment due to human settlement activities since the Neolithic - with an important increase in sediment load and spatial variability since the Bronze Age

  13. Oxidative DNA damage in mouse sperm chromosomes: Size matters.

    Science.gov (United States)

    Kocer, Ayhan; Henry-Berger, Joelle; Noblanc, Anais; Champroux, Alexandre; Pogorelcnik, Romain; Guiton, Rachel; Janny, Laurent; Pons-Rejraji, Hanae; Saez, Fabrice; Johnson, Graham D; Krawetz, Stephen A; Alvarez, Juan G; Aitken, R John; Drevet, Joël R

    2015-12-01

    Normal embryo and foetal development as well as the health of the progeny are mostly dependent on gamete nuclear integrity. In the present study, in order to characterize more precisely oxidative DNA damage in mouse sperm we used two mouse models that display high levels of sperm oxidative DNA damage, a common alteration encountered both in in vivo and in vitro reproduction. Immunoprecipitation of oxidized sperm DNA coupled to deep sequencing showed that mouse chromosomes may be largely affected by oxidative alterations. We show that the vulnerability of chromosomes to oxidative attack inversely correlated with their size and was not linked to their GC richness. It was neither correlated with the chromosome content in persisting nucleosomes nor associated with methylated sequences. A strong correlation was found between oxidized sequences and sequences rich in short interspersed repeat elements (SINEs). Chromosome position in the sperm nucleus as revealed by fluorescent in situ hybridization appears to be a confounder. These data map for the first time fragile mouse sperm chromosomal regions when facing oxidative damage that may challenge the repair mechanisms of the oocyte post-fertilization.

  14. Chromosome assortment in Saccharum.

    Science.gov (United States)

    Al-Janabi, S M; Honeycutt, R J; Sobral, B W

    1994-12-01

    Recent work has revealed random chromosome pairing and assortment in Saccharum spontaneum L., the most widely distributed, and morphologically and cytologically variable of the species of Saccharum. This conclusion was based on the analysis of a segregating population from across between S. spontaneum 'SES 208' and a spontaneously-doubled haploid of itself, derived from anther culture. To determine whether polysomic inheritance is common in Saccharum and whether it is observed in a typical biparental cross, we studied chromosome pairing and assortment in 44 progeny of a cross between euploid, meiotically regular, 2n=80 forms of Saccharum officinarum 'LA Purple' and Saccharum robustum ' Mol 5829'. Papuan 2n=80 forms of S. robustum have been suggested as the immediate progenitor species for cultivated sugarcane (S. officinarum). A total of 738 loci in LA Purple and 720 loci in Mol 5829 were amplified and typed in the progeny by arbitrarily primed PCR using 45 primers. Fifty and 33 single-dose polymorphisms were identified in the S. officinarum and S. robustum genomes, respectively (χ 2 at 98%). Linkage analysis of single-dose polymorphisms in both genomes revealed linkages in repulsion and coupling phases. In the S. officinarum genome, a map hypothesis gave 7 linkage groups with 17 linked and 33 unlinked markers. Four of 13 pairwise linkages were in repulsion phase and 9 were in coupling phase. In the S. robustum genome, a map hypothesis gave 5 linkage groups, defined by 12 markers, with 21 markers unlinked, and 2 of 9 pairwise linkages were in repulsion phase. Therefore, complete polysomic inheritance was not observed in either species, suggesting that chromosomal behavior is different from that observed by linkage analysis of over 500 markers in the S. spontaneum map. Implications of this finding for evolution and breeding are discussed.

  15. Intraspecific chromosome variability

    Directory of Open Access Journals (Sweden)

    N Dubinin

    2010-12-01

    Full Text Available (Editorial preface. The publication is presented in order to remind us of one of dramatic pages of the history of genetics. It re-opens for the contemporary reader a comprehensive work marking the priority change from plant cytogenetics to animal cytogenetics led by wide population studies which were conducted on Drosophila polytene chromosomes. The year of the publication (1937 became the point of irretrievable branching between the directions of Old World and New World genetics connected with the problems of chromosome variability and its significance for the evolution of the species. The famous book of T. Dobzhansky (1937 was published by Columbia University in the US under the title “Genetics and the origin of species”, and in the shadow of this American ‘skybuilding’ all other works grew dim. It is remarkable that both Dobzhansky and Dubinin come to similar conclusions about the role of chromosomes in speciation. This is not surprising given that they both might be considered as representatives of the Russian genetic school, by their birth and education. Interestingly, Dobzhansky had never referred to the full paper of Dubinin et al. (1937, though a previous short communication in Nature (1936 was included together with all former papers on the related subject. In full, the volume of the original publication printed in the Biological Journal in Moscow comprised 47 pages, in that number 41 pages of the Russian text accompanied by 16 Figs, a table and reference list, and, above all, 6 pages of the English summary. This final part in English is now reproduced in the authors’ version with the only addition being the reference list in the originally printed form.

  16. Epigenetics and autoimmune diseases: the X chromosome-nucleolus nexus.

    Science.gov (United States)

    Brooks, Wesley H; Renaudineau, Yves

    2015-01-01

    Autoimmune diseases occur more often in females, suggesting a key role for the X chromosome. X chromosome inactivation, a major epigenetic feature in female cells that provides dosage compensation of X-linked genes to avoid overexpression, presents special vulnerabilities that can contribute to the disease process. Disruption of X inactivation can result in loss of dosage compensation with expression from previously sequestered genes, imbalance of gene products, and altered endogenous material out of normal epigenetic context. In addition, the human X has significant differences compared to other species and these differences can contribute to the frequency and intensity of the autoimmune disease in humans as well as the types of autoantigens encountered. Here a link is demonstrated between autoimmune diseases, such as systemic lupus erythematosus, and the X chromosome by discussing cases in which typically non-autoimmune disorders complicated with X chromosome abnormalities also present lupus-like symptoms. The discussion is then extended to the reported spatial and temporal associations of the inactive X chromosome with the nucleolus. When frequent episodes of cellular stress occur, the inactive X chromosome may be disrupted and inadvertently become involved in the nucleolar stress response. Development of autoantigens, many of which are at least transiently components of the nucleolus, is then described. Polyamines, which aid in nucleoprotein complex assembly in the nucleolus, increase further during cell stress, and appear to have an important role in the autoimmune disease process. Autoantigenic endogenous material can potentially be stabilized by polyamines. This presents a new paradigm for autoimmune diseases: that many are antigen-driven and the autoantigens originate from altered endogenous material due to episodes of cellular stress that disrupt epigenetic control. This suggests that epigenetics and the X chromosome are important aspects of autoimmune

  17. Relationship Between Gross Motor Function and Daily Functional Skill in Children With Cerebral Palsy

    OpenAIRE

    Kwon, Tae Gun; Yi, Sook-Hee; Kim, Tae Won; Chang, Hyun Jung; Kwon, Jeong-Yi

    2013-01-01

    Objective To investigate the relationship between gross motor function and daily functional skill in children with cerebral palsy (CP) and to explore how this relationship is moderated by the Gross Motor Function Classification System, Bimanual Fine Motor Function (BFMF), neuromotor types, and limb distribution of CP. Methods A cross-sectional survey of 112 children with CP (range, 4 years to 7 years and 7 months) was performed. Gross motor function was assessed with the Gross Motor Function ...

  18. Chromosomal evolution in small mammals (Insectivora, Chiroptera, Rodentia

    Directory of Open Access Journals (Sweden)

    Jan Zima

    2000-09-01

    Full Text Available Abstract Extensive descriptive, comparative, and experimental research on the chromosomes of natural populations of small mammals has been conducted in the last 50 years. These studies have revealed a surprisingly large amount of karyotypic variation within and between individuals, populations, species, and higher taxa. In the Palaearctic region, the karyotypes of 80 to 90% of the species of insectivores, bats and rodents have already been described, and almost all European species belonging to these orders have been examined. More than 40 cryptic species of small mammals with a unique karyotype have been described in the Palaearctic region, including 24 species in Europe. A polymorphic or polytypic karyotype was found in 118 Palaearctic and 42 European species. This high degree of intraspecific karyotypic variation has resulted in problems in the naming of various chromosomal races, since the subspecies is clearly not the appropriate category for this purpose. The driving forces of karyotypic evolution may be found either in selection or drift acting at the organismal level, or in the internal processes occurring within the cell. The forces acting at the organismal level are based on either negative heterosis of chromosomal rearrangements or on the altered pattern of gene expression resulting from karyotypic repatterning. Little evidence for the direct adaptive nature of chromosomal alterations has been presented up to now and the significance of this factor remains unclear. Chromosomal change is, however, obviously correlated with speciation and divergent evolution, even if karyotypic alterations in certain lineages need not be directly related to the formation of a reproductive barrier. Chromosomal studies are still an important tool to record and describe biological diversity, and often represent a simple and indispensable method for identification of various taxa.

  19. Affected chromosome homeostasis and genomic instability of clonal yeast cultures.

    Science.gov (United States)

    Adamczyk, Jagoda; Deregowska, Anna; Panek, Anita; Golec, Ewelina; Lewinska, Anna; Wnuk, Maciej

    2016-05-01

    Yeast cells originating from one single colony are considered genotypically and phenotypically identical. However, taking into account the cellular heterogeneity, it seems also important to monitor cell-to-cell variations within a clone population. In the present study, a comprehensive yeast karyotype screening was conducted using single chromosome comet assay. Chromosome-dependent and mutation-dependent changes in DNA (DNA with breaks or with abnormal replication intermediates) were studied using both single-gene deletion haploid mutants (bub1, bub2, mad1, tel1, rad1 and tor1) and diploid cells lacking one active gene of interest, namely BUB1/bub1, BUB2/bub2, MAD1/mad1, TEL1/tel1, RAD1/rad1 and TOR1/tor1 involved in the control of cell cycle progression, DNA repair and the regulation of longevity. Increased chromosome fragility and replication stress-mediated chromosome abnormalities were correlated with elevated incidence of genomic instability, namely aneuploid events-disomies, monosomies and to a lesser extent trisomies as judged by in situ comparative genomic hybridization (CGH). The tor1 longevity mutant with relatively balanced chromosome homeostasis was found the most genomically stable among analyzed mutants. During clonal yeast culture, spontaneously formed abnormal chromosome structures may stimulate changes in the ploidy state and, in turn, promote genomic heterogeneity. These alterations may be more accented in selected mutated genetic backgrounds, namely in yeast cells deficient in proper cell cycle regulation and DNA repair.

  20. Effect of chromosome tethering on nuclear organization in yeast.

    Directory of Open Access Journals (Sweden)

    Barış Avşaroğlu

    Full Text Available Interphase chromosomes in Saccharomyces cerevisiae are tethered to the nuclear envelope at their telomeres and to the spindle pole body (SPB at their centromeres. Using a polymer model of yeast chromosomes that includes these interactions, we show theoretically that telomere attachment to the nuclear envelope is a major determinant of gene positioning within the nucleus only for genes within 10 kb of the telomeres. We test this prediction by measuring the distance between the SPB and the silent mating locus (HML on chromosome III in wild-type and mutant yeast strains that contain altered chromosome-tethering interactions. In wild-type yeast cells we find that disruption of the telomere tether does not dramatically change the position of HML with respect to the SPB, in agreement with theoretical predictions. Alternatively, using a mutant strain with a synthetic tether that localizes an HML-proximal site to the nuclear envelope, we find a significant change in the SPB-HML distance, again as predicted by theory. Our study quantifies the importance of tethering at telomeres on the organization of interphase chromosomes in yeast, which has been shown to play a significant role in determining chromosome function such as gene expression and recombination.

  1. Vibrio chromosome-specific families

    DEFF Research Database (Denmark)

    Lukjancenko, Oksana; Ussery, David

    2014-01-01

    families, 1169 and 153 are uniquely found in chromosomes 1 and 2, respectively. Gene ontology (GO) terms for each of the protein families were determined, and the different sets for each chromosome were compared. A total of 363 different "Molecular Function" GO categories were found for chromosome 1......We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished...

  2. Excessive centrosome abnormalities without ongoing numerical chromosome instability in a Burkitt's lymphoma

    Directory of Open Access Journals (Sweden)

    Cin Paola

    2003-09-01

    Full Text Available Abstract Numerical and structural centrosome abnormalities are detected in various human malignancies and have been implicated in the formation of multipolar mitoses, chromosome missegregation, and chromosomal instability. Despite this association between centrosome abnormalities and cancerous growth, a causative role of centrosome aberrations in generating chromosomal instability and aneuploidy has not been universally established. We report here excessive numerical and structural centrosome abnormalities in a malignant Burkitt's lymphoma harboring the characteristic t(8;14 chromosomal translocation. Using conventional karyotyping and fluorescence in situ hybridization (FISH, we detected no signs of ongoing numerical chromosome instability, although the tumor displayed sporadic multipolar metaphases. These findings demonstrate that centrosome abnormalities are not a universal surrogate marker for chromosomal instability in malignant tumors. Moreover, our results suggest a model in which additional cellular alterations may be required to promote centrosome-related mitotic defects in tumor cells.

  3. 26 CFR 1.927(b)-1T - Temporary regulations; Definition of gross receipts.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 10 2010-04-01 2010-04-01 false Temporary regulations; Definition of gross...(b)-1T Temporary regulations; Definition of gross receipts. (a) General rule. Under section 927(b.... The FSC's gross receipts for purposes of computing its profit under the administrative pricing...

  4. The relationship between gross motor skills and academic achievement in children with learning disabilities

    NARCIS (Netherlands)

    Westendorp, Marieke; Hartman, Esther; Houwen, Suzanne; Smith, Joanne; Visscher, Chris

    2011-01-01

    The present study compared the gross motor skills of 7- to 12-year-old children with learning disabilities (n = 104) with those of age-matched typically developing children (n = 104) using the Test of Gross Motor Development-2. Additionally, the specific relationships between subsets of gross motor

  5. 46 CFR 130.110 - Internal communications on OSVs of less than 100 gross tons.

    Science.gov (United States)

    2010-10-01

    ... 46 Shipping 4 2010-10-01 2010-10-01 false Internal communications on OSVs of less than 100 gross... Internal communications on OSVs of less than 100 gross tons. Each vessel of less than 100 gross tons... have a fixed means of communication between the pilothouse and the place where the auxiliary means...

  6. The relationship between gross motor skills and academic achievement in children with learning disabilities

    NARCIS (Netherlands)

    Westendorp, Marieke; Hartman, Esther; Houwen, Suzanne; Smith, Joanne; Visscher, Chris

    2011-01-01

    The present study compared the gross motor skills of 7- to 12-year-old children with learning disabilities (n = 104) with those of age-matched typically developing children (n = 104) using the Test of Gross Motor Development-2. Additionally, the specific relationships between subsets of gross motor

  7. 26 CFR 1.872-1 - Gross income of nonresident alien individuals.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 9 2010-04-01 2010-04-01 false Gross income of nonresident alien individuals. 1...) INCOME TAX (CONTINUED) INCOME TAXES Nonresident Aliens and Foreign Corporations § 1.872-1 Gross income of nonresident alien individuals. (a) In general—(1) Inclusions. The gross income of a nonresident...

  8. 26 CFR 20.2031-1 - Definition of gross estate; valuation of property.

    Science.gov (United States)

    2010-04-01

    ..., except that if the executor elects the alternate valuation method under section 2032, it is the fair... 26 Internal Revenue 14 2010-04-01 2010-04-01 false Definition of gross estate; valuation of... § 20.2031-1 Definition of gross estate; valuation of property. (a) Definition of gross estate. Except...

  9. 26 CFR 1.924(a)-1T - Temporary regulations; definition of foreign trading gross receipts.

    Science.gov (United States)

    2010-04-01

    ... trading gross receipts. 1.924(a)-1T Section 1.924(a)-1T Internal Revenue INTERNAL REVENUE SERVICE... United States § 1.924(a)-1T Temporary regulations; definition of foreign trading gross receipts. (a) In general. The term “foreign trading gross receipts” means any of the five amounts described in...

  10. 46 CFR 176.700 - Permission for repairs and alterations.

    Science.gov (United States)

    2010-10-01

    ... (UNDER 100 GROSS TONS) INSPECTION AND CERTIFICATION Repairs and Alterations § 176.700 Permission for... refastening of deck or hull planking, plating, and structural members; repair of plate or frame cracks; damage repair or replacement, other than replacement in kind, of electrical wiring, fuel lines, tanks,...

  11. Chromosomal rearrangement interferes with meiotic X chromosome inactivation.

    Science.gov (United States)

    Homolka, David; Ivanek, Robert; Capkova, Jana; Jansa, Petr; Forejt, Jiri

    2007-10-01

    Heterozygosity for certain mouse and human chromosomal rearrangements is characterized by the incomplete meiotic synapsis of rearranged chromosomes, by their colocalization with the XY body in primary spermatocytes, and by male-limited sterility. Previously, we argued that such X-autosomal associations could interfere with meiotic sex chromosome inactivation. Recently, supporting evidence has reported modifications of histones in rearranged chromosomes by a process called the meiotic silencing of unsynapsed chromatin (MSUC). Here, we report on the transcriptional down-regulation of genes within the unsynapsed region of the rearranged mouse chromosome 17, and on the subsequent disturbance of X chromosome inactivation. The partial transcriptional suppression of genes in the unsynapsed chromatin was most prominent prior to the mid-pachytene stage of primary spermatocytes. Later, during the mid-late pachytene, the rearranged autosomes colocalized with the XY body, and the X chromosome failed to undergo proper transcriptional silencing. Our findings provide direct evidence on the MSUC acting at the mRNA level, and implicate that autosomal asynapsis in meiosis may cause male sterility by interfering with meiotic sex chromosome inactivation.

  12. Chromosome Connections: Compelling Clues to Common Ancestry

    Science.gov (United States)

    Flammer, Larry

    2013-01-01

    Students compare banding patterns on hominid chromosomes and see striking evidence of their common ancestry. To test this, human chromosome no. 2 is matched with two shorter chimpanzee chromosomes, leading to the hypothesis that human chromosome 2 resulted from the fusion of the two shorter chromosomes. Students test that hypothesis by looking for…

  13. Engineering of Systematic Elimination of a Targeted Chromosome in Human Cells

    Directory of Open Access Journals (Sweden)

    Hiroshi Sato

    2017-01-01

    Full Text Available Embryonic trisomy leads to abortion or congenital genetic disorders in humans. The most common autosomal chromosome abnormalities are trisomy of chromosomes 13, 18, and 21. Although alteration of gene dosage is thought to contribute to disorders caused by extra copies of chromosomes, genes associated with specific disease phenotypes remain unclear. To generate a normal cell from a trisomic cell as a means of etiological analysis or candidate therapy for trisomy syndromes, we developed a system to eliminate a targeted chromosome from human cells. Chromosome 21 was targeted by integration of a DNA cassette in HeLa cells that harbored three copies of chromosome 21. The DNA cassette included two inverted loxP sites and a herpes simplex virus thymidine kinase (HSV-tk gene. This system causes missegregation of chromosome 21 after expression of Cre recombinase and subsequently enables the selection of cells lacking the chromosome by culturing in a medium that includes ganciclovir (GCV. Cells harboring only two copies of chromosome 21 were efficiently induced by transfection of a Cre expression vector, indicating that this approach is useful for eliminating a targeted chromosome.

  14. Chromosome breakages associated with 45S ribosomal DNA sequences in spotted snakehead fish Channa punctatus.

    Science.gov (United States)

    Singh, Mamta; Barman, Anindya Sundar

    2013-01-01

    It is well known that transcriptionally inactive rRNA genes are correlated with DNA hyper-methylation and histone hypo-methylation and there is clear evidence in humans that DNA and histone modification which alter chromatin structure are related to chromosome fragility. Very little is known about the biological cause of 45S rDNA fragility. In this report we characterized the chromosome breakage or gap associated with 45S rDNA in a fish species Channa punctatus. The rDNA mapping in C. punctatus, showed many chromosome breakages or gap formations, and all occurred exclusively in the 45S rDNA sites in anterior kidney cells. We observed that the number of chromosomes plus chromosome fragments was often more than the expected 32 in most cells. Total 67 % metaphase spread showed the expected or normal 32 chromosomes, while 33 % metaphase spread showed 33 and/or 34 chromosomes and/or chromosome fragments. The chromosome lesions observed in this study are very similar cytologically to that of fragile sites observed in human chromosomes. Possible causes for the spontaneous expression of fragile sites and their potential biological significance are also discussed in present report.

  15. Direct ChromOSOme Analysis and FISH Detection of Primary Gastric cancer

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective: To investigate chromosome aberrations and their role in the genesis and development of primary gastric cancer. Methods: An improved, direct chromosome preparation from solid tumors was adopted for G-banding analysis followed by FISH on decolored G-banding chromosomes so that chromosome aberrations could be confirmed at DNA level. Results: A total of 28 primary gastric cancer specimens were studies. Case 1 and case 2 had simple chromosome numerical changes: 49, XY, +2, +8, +9 and 48, +8, +20, respectively. All but case 1 and 2 had complicated chromosome abnormalities. Chromosome structural of frequent occurrence involved del(7q)(21/26), del(3p)(14/26), del(lp)(l1/26) and del(17p)(10/26). The chromosome abnormalities could be simple and complicated. In former, numerical changes involving 1 to 3 chromosome could be observed. Trisomies 8 and 9 might represent a cytogenetic subgroup of primary gastric cancer. In the later, the del(7q) was the most consistent aberration. 7q32-qter was the commonly lost segment. Conclusion: Numerical and structural alterations of chromosomes are present in primary gastric cancer. Del(7q) is one of the structural change characteristic of primary gastric cancer. In the 7q32-qter fragment, a tumor suppressor gene probably exists and it may have close relation to the genesis and progression of gastric cancer.

  16. The response of gross nitrogen mineralization to labile carbon inputs

    Science.gov (United States)

    Bengtson, Per

    2014-05-01

    Input of labile carbon sources to forest soils commonly result in priming, i.e. an increase in the microbial decomposition of soil organic matter. Efforts aimed at quantifying the extent of priming have, to date, largely focused on soil organic matter decomposition manifested as soil respiration. Less is known about how gross nitrogen mineralization responds to input of labile carbon. It is often assumed that increased priming results in decreased soil carbon stocks. However, microbial mineralization of organic nitrogen into plant available forms is a major factor limiting primary production in forests. If increased decomposition of soil organic matter in response to labile carbon is accompanied by a concurrent increased nitrogen mineralization, this could result in elevated primary production and higher rates of plant derived organic matter input to soils. Therefore, in order to fully understand the effect of priming on net ecosystem exchange and soil carbon stocks, it is vital to consider if increased decomposition of soil organic matter caused by priming also results in increased nitrogen mineralization. Here I present the results from a series of experiments aimed at determining if, and to which extent, gross nitrogen mineralization is stimulated by input of labile carbon. The results suggest that it is by no means uncommon to find an increase in gross N mineralization rates in response to labile carbon inputs. The magnitude of the increase seems dependent on the nitrogen status of the soil, as well as the concentration and rate of labile carbon inputs. However, continuous input of labile carbon sources that also contains nitrogen, e.g. amino acids, seems to inhibit rather than increase the mineralization of organic nitrogen. These findings suggest that there is a potential for a positive feedback between priming and primary production that needs to be considered in order to fully understand the influence of priming on net ecosystem exchange and soil carbon

  17. The Schroedinger functional for Gross-Neveu models

    Energy Technology Data Exchange (ETDEWEB)

    Leder, B.

    2007-04-18

    Gross-Neveu type models with a finite number of fermion flavours are studied on a two-dimensional Euclidean space-time lattice. The models are asymptotically free and are invariant under a chiral symmetry. These similarities to QCD make them perfect benchmark systems for fermion actions used in large scale lattice QCD computations. The Schroedinger functional for the Gross-Neveu models is defined for both, Wilson and Ginsparg-Wilson fermions, and shown to be renormalisable in 1-loop lattice perturbation theory. In two dimensions four fermion interactions of the Gross-Neveu models have dimensionless coupling constants. The symmetry properties of the four fermion interaction terms and the relations among them are discussed. For Wilson fermions chiral symmetry is explicitly broken and additional terms must be included in the action. Chiral symmetry is restored up to cut-off effects by tuning the bare mass and one of the couplings. The critical mass and the symmetry restoring coupling are computed to second order in lattice perturbation theory. This result is used in the 1-loop computation of the renormalised couplings and the associated beta-functions. The renormalised couplings are defined in terms of suitable boundary-to-boundary correlation functions. In the computation the known first order coefficients of the beta-functions are reproduced. One of the couplings is found to have a vanishing betafunction. The calculation is repeated for the recently proposed Schroedinger functional with exact chiral symmetry, i.e. Ginsparg-Wilson fermions. The renormalisation pattern is found to be the same as in the Wilson case. Using the regularisation dependent finite part of the renormalised couplings, the ratio of the Lambda-parameters is computed. (orig.)

  18. Complex saddles in the Gross-Witten-Wadia matrix model

    CERN Document Server

    Álvarez, Gabriel; Medina, Elena

    2016-01-01

    We give an exhaustive characterization of the complex saddle point configurations of the Gross-Witten-Wadia matrix model in the large-N limit. In particular, we characterize the cases in which the saddles accumulate in one, two, or three arcs, in terms of the values of the coupling constant and of the fraction of the total unit density that is supported in one of the arcs, and derive an explicit condition for gap closing associated to nonvacuum saddles. By applying the idea of large-N instanton we also give direct analytic derivations of the weak-coupling and strong-coupling instanton actions.

  19. Pathology Gross Photography: The Beginning of Digital Pathology.

    Science.gov (United States)

    Rampy, B Alan; Glassy, Eric F

    2015-06-01

    The underutilized practice of photographing anatomic pathology specimens from surgical pathology and autopsies is an invaluable benefit to patients, clinicians, pathologists, and students. Photographic documentation of clinical specimens is essential for the effective practice of pathology. When considering what specimens to photograph, all grossly evident pathology, absent yet expected pathologic features, and gross-only specimens should be thoroughly documented. Specimen preparation prior to photography includes proper lighting and background, wiping surfaces of blood, removing material such as tubes or bandages, orienting the specimen in a logical fashion, framing the specimen to fill the screen, positioning of probes, and using the right-sized scale.

  20. Four loop renormalization of the Gross-Neveu model

    CERN Document Server

    Gracey, J A; Schroder, Y

    2016-01-01

    We renormalize the SU(N) Gross-Neveu model in the modified minimal subtraction (MSbar) scheme at four loops and determine the beta-function at this order. The theory ceases to be multiplicatively renormalizable when dimensionally regularized due to the generation of evanescent 4-fermi operators. The first of these appears at three loops and we correctly take their effect into account in deriving the renormalization group functions. We use the results to provide estimates of critical exponents relevant to phase transitions in graphene.

  1. Gross shell structure at high spin in heavy nuclei

    CERN Document Server

    Deleplanque, M A; Pashkevich, V V; Chu, S Y; Unzhakova, A

    2004-01-01

    Experimental nuclear moments of inertia at high spins along the yrast line have been determined systematically and found to differ from the rigid-body values. The difference is attributed to shell effects and these have been calculated microscopically. The data and quantal calculations are interpreted by means of the semiclassical Periodic Orbit Theory. From this new perspective, features in the moments of inertia as a function of neutron number and spin, as well as their relation to the shell energies can be understood. Gross shell effects persist up to the highest angular momenta observed.

  2. Labor Absorption and Its Impact on Gross Regional Domestic Product

    OpenAIRE

    Made Ika Prastyadewi; Agus Suman; Devanto Shasta Pratomo

    2013-01-01

    The objective of this study is to examine the determinants of labor absorption in the trade, hotel and restaurant sector and its impact on Gross Regional Domestic Product/GRDP at Bali Province. This study is important due to the fact that the GRDP in this sector is the highest compared to other sector but the labor absorption is lower than the agriculture sector. This study used panel data comprising 9 regencies/cities at Bali Province in the period 2003-2009 including fixed effect model and ...

  3. Characterizing the development of sectoral gross domestic product composition.

    Science.gov (United States)

    Lutz, Raphael; Spies, Michael; Reusser, Dominik E; Kropp, Jürgen P; Rybski, Diego

    2013-07-01

    We consider the sectoral composition of a country's gross domestic product (GDP), i.e., the partitioning into agrarian, industrial, and service sectors. Exploring a simple system of differential equations, we characterize the transfer of GDP shares between the sectors in the course of economic development. The model fits for the majority of countries providing four country-specific parameters. Relating the agrarian with the industrial sector, a data collapse over all countries and all years supports the applicability of our approach. Depending on the parameter ranges, country development exhibits different transfer properties. Most countries follow three of eight characteristic paths. The types are not random but show distinct geographic and development patterns.

  4. Gross shell structure at high spin in heavy nuclei

    Energy Technology Data Exchange (ETDEWEB)

    Deleplanque, Marie-Agnes; Frauendorf, Stefan; Pashkevich, Vitaly V.; Chu, S.Y.; Unzhakova, Anja

    2003-10-07

    Experimental nuclear moments of inertia at high spins along the yrast line have been determined systematically and found to differ from the rigid-body values. The difference is attributed to shell effect and these have been calculated microscopically. The data and quantal calculations are interpreted by means of the semiclassical Periodic Orbit Theory. From this new perspective, features in the moments of inertia as a function of neutron number and spin, as well as their relation to the shell energies can be understood. Gross shell effects persist up to the highest angular momenta observed.

  5. Cohesin in determining chromosome architecture

    Energy Technology Data Exchange (ETDEWEB)

    Haering, Christian H., E-mail: christian.haering@embl.de [Cell Biology and Biophysics Unit, European Molecular Biology Laboratory (EMBL), Heidelberg (Germany); Jessberger, Rolf, E-mail: rolf.jessberger@tu-dresden.de [Institute of Physiological Chemistry, Dresden University of Technology, Dresden (Germany)

    2012-07-15

    Cells use ring-like structured protein complexes for various tasks in DNA dynamics. The tripartite cohesin ring is particularly suited to determine chromosome architecture, for it is large and dynamic, may acquire different forms, and is involved in several distinct nuclear processes. This review focuses on cohesin's role in structuring chromosomes during mitotic and meiotic cell divisions and during interphase.

  6. Chromosome choreography: the meiotic ballet.

    Science.gov (United States)

    Page, Scott L; Hawley, R Scott

    2003-08-08

    The separation of homologous chromosomes during meiosis in eukaryotes is the physical basis of Mendelian inheritance. The core of the meiotic process is a specialized nuclear division (meiosis I) in which homologs pair with each other, recombine, and then segregate from each other. The processes of chromosome alignment and pairing allow for homolog recognition. Reciprocal meiotic recombination ensures meiotic chromosome segregation by converting sister chromatid cohesion into mechanisms that hold homologous chromosomes together. Finally, the ability of sister kinetochores to orient to a single pole at metaphase I allows the separation of homologs to two different daughter cells. Failures to properly accomplish this elegant chromosome dance result in aneuploidy, a major cause of miscarriage and birth defects in human beings.

  7. Bacterial chromosome organization and segregation.

    Science.gov (United States)

    Badrinarayanan, Anjana; Le, Tung B K; Laub, Michael T

    2015-01-01

    If fully stretched out, a typical bacterial chromosome would be nearly 1 mm long, approximately 1,000 times the length of a cell. Not only must cells massively compact their genetic material, but they must also organize their DNA in a manner that is compatible with a range of cellular processes, including DNA replication, DNA repair, homologous recombination, and horizontal gene transfer. Recent work, driven in part by technological advances, has begun to reveal the general principles of chromosome organization in bacteria. Here, drawing on studies of many different organisms, we review the emerging picture of how bacterial chromosomes are structured at multiple length scales, highlighting the functions of various DNA-binding proteins and the impact of physical forces. Additionally, we discuss the spatial dynamics of chromosomes, particularly during their segregation to daughter cells. Although there has been tremendous progress, we also highlight gaps that remain in understanding chromosome organization and segregation.

  8. Schizophrenia and chromosomal deletions

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Baldini, A. [Baylor College of Medicine, Houston, TX (United States); Morris, M. A. [Univ. of Geneva School of Medicine, NY (United States)] [and others

    1995-06-01

    Recent genetic linkage analysis studies have suggested the presence of a schizophrenia locus on the chromosomal region 22q11-q13. Schizophrenia has also been frequently observed in patients affected with velo-cardio-facial syndrome (VCFS), a disorder frequently associated with deletions within 22q11.1. It has been hypothesized that psychosis in VCFS may be due to deletion of the catechol-o-methyl transferase gene. Prompted by these observations, we screened for 22q11 deletions in a population of 100 schizophrenics selected from the Maryland Epidemiological Sample. Our results show that there are schizophrenic patients carrying a deletion of 22q11.1 and a mild VCFS phenotype that might remain unrecognized. These findings should encourage a search for a schizophrenia-susceptibility gene within the deleted region and alert those in clinical practice to the possible presence of a mild VCFS phenotype associated with schizophrenia. 9 refs.

  9. Measuring gross and net calcification of a reef coral under ocean acidification conditions: methodological considerations

    Directory of Open Access Journals (Sweden)

    S. Cohen

    2012-07-01

    Full Text Available Ongoing ocean acidification (OA is rapidly altering carbonate chemistry in the oceans. The projected changes will likely have deleterious consequences for coral reefs by negatively affecting their growth. Nonetheless, diverse responses of reef-building corals calcification to OA hinder our ability to decipher reef susceptibility to elevated pCO2. Some of the inconsistencies between studies originate in measuring net calcification (NC, which does not always consider the proportions of the "real" (gross calcification (GC and gross dissolution in the observed response. Here we show that microcolonies of Stylophora pistillata (entirely covered by tissue, incubated under normal (8.2 and reduced (7.6 pH conditions for 16 months, survived and added new skeletal CaCO3, despite low (1.25 Ωarg conditions. Moreover, corals maintained their NC and GC rates under reduced (7.6 pH conditions and displayed positive NC rates at the low-end (7.3 pH treatment while bare coral skeleton underwent marked dissolution. Our findings suggest that S. pistillata may fall into the "low sensitivity" group with respect to OA and that their overlying tissue may be a key determinant in setting their tolerance to reduced pH by limiting dissolution and allowing them to calcify. This study is the first to measure GC and NC rates for a tropical scleractinian corals under OA conditions. We provide a detailed, realistic assessment of the problematic nature of previously accepted methods for measuring calcification (total alkalinity and 45Ca.

  10. Genetics Home Reference: Y chromosome infertility

    Science.gov (United States)

    ... Home Health Conditions Y chromosome infertility Y chromosome infertility Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Y chromosome infertility is a condition that affects the production of ...

  11. Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

    Directory of Open Access Journals (Sweden)

    Halit Akbas

    2013-01-01

    Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

  12. Evolutionarily diverged regulation of X-chromosomal genes as a primal event in mouse reproductive isolation.

    Science.gov (United States)

    Oka, Ayako; Takada, Toyoyuki; Fujisawa, Hironori; Shiroishi, Toshihiko

    2014-04-01

    Improper gene regulation is implicated in reproductive isolation, but its genetic and molecular bases are unknown. We previously reported that a mouse inter-subspecific X chromosome substitution strain shows reproductive isolation characterized by male-specific sterility due to disruption of meiotic entry in spermatogenesis. Here, we conducted comprehensive transcriptional profiling of the testicular cells of this strain by microarray. The results clearly revealed gross misregulation of gene expression in the substituted donor X chromosome. Such misregulation occurred prior to detectable spermatogenetic impairment, suggesting that it is a primal event in reproductive isolation. The misregulation of X-linked genes showed asymmetry; more genes were disproportionally downregulated rather than upregulated. Furthermore, this misregulation subsequently resulted in perturbation of global transcriptional regulation of autosomal genes, probably by cascading deleterious effects. Remarkably, this transcriptional misregulation was substantially restored by introduction of chromosome 1 from the same donor strain as the X chromosome. This finding implies that one of regulatory genes acting in trans for X-linked target genes is located on chromosome 1. This study collectively suggests that regulatory incompatibility is a major cause of reproductive isolation in the X chromosome substitution strain.

  13. A New Nomenclature of Xenopus laevis Chromosomes Based on the Phylogenetic Relationship to Silurana/Xenopus tropicalis.

    Science.gov (United States)

    Matsuda, Yoichi; Uno, Yoshinobu; Kondo, Mariko; Gilchrist, Michael J; Zorn, Aaron M; Rokhsar, Daniel S; Schmid, Michael; Taira, Masanori

    2015-01-01

    Xenopus laevis (XLA) is an allotetraploid species which appears to have undergone whole-genome duplication after the interspecific hybridization of 2 diploid species closely related to Silurana/Xenopus tropicalis (XTR). Previous cDNA fluorescence in situ hybridization (FISH) experiments have identified 9 sets of homoeologous chromosomes in X. laevis, in which 8 sets correspond to chromosomes 1-8 of X. tropicalis (XTR1-XTR8), and the last set corresponds to a fusion of XTR9 and XTR10. In addition, recent X. laevis genome sequencing and BAC-FISH experiments support this physiological relationship and show no gross chromosome translocation in the X. laevis karyotype. Therefore, for the benefit of both comparative cytogenetics and genome research, we here propose a new chromosome nomenclature for X. laevis based on the phylogenetic relationship and chromosome length, i.e. XLA1L, XLA1S, XLA2L, XLA2S, and so on, in which the numbering of XLA chromosomes corresponds to that in X. tropicalis and the postfixes 'L' and 'S' stand for 'long' and 'short' chromosomes in the homoeologous pairs, which can be distinguished cytologically by their relative size. The last chromosome set is named XLA9L and XLA9S, in which XLA9 corresponds to both XTR9 and XTR10, and hence, to emphasize the phylogenetic relationship to X. tropicalis, XLA9_10L and XLA9_10S are also used as synonyms.

  14. The implications of particle energy and acidic media on gross alpha and gross beta determination using liquid scintillation

    Energy Technology Data Exchange (ETDEWEB)

    Zapata-Garcia, D. [Laboratori de Radiologia Ambiental (LRA), Departament de Quimica Analitica, Universitat de Barcelona, Marti i Franques, 1-11 Planta 3, E-08028 Barcelona (Spain); Llaurado, M., E-mail: montse.llaurado@ub.edu [Laboratori de Radiologia Ambiental (LRA), Departament de Quimica Analitica, Universitat de Barcelona, Marti i Franques, 1-11 Planta 3, E-08028 Barcelona (Spain); Rauret, G. [Laboratori de Radiologia Ambiental (LRA), Departament de Quimica Analitica, Universitat de Barcelona, Marti i Franques, 1-11 Planta 3, E-08028 Barcelona (Spain)

    2012-04-15

    The interaction of humans with radioactivity present in the environment from natural and artificial sources necessitates an evaluation of its risk on human health. Gross alpha and gross beta activities can provide a rapid evaluation of the radioactive content of a sample and can be simultaneously determined by using liquid scintillation counters. However, calibration of the liquid scintillation counter is required and is affected by many factors, such as particle energy and the acidity of the media. This study investigates what effect the particle energy used for calibration has on misclassification and how to account for this misclassification in routine measurements. The variability in measurement produced by the final pH, as well as any acids used in sample treatment, was also studied. These results showed that the most commonly used acid for these types of analyses, HNO{sub 3}, produced a high amount of misclassifications at very low pH. The results improved when HCl was used to adjust the sample to low pH. - Highlights: Black-Right-Pointing-Pointer We study the effect of alpha and beta energies on PSA optimisation. Black-Right-Pointing-Pointer The optimum PSA shifts to higher values as the alpha energy increases. Beta energies do not affect it. Black-Right-Pointing-Pointer We study the effect of pH on the simultaneous determination of gross alpha/beta activities. Black-Right-Pointing-Pointer HNO{sub 3} produces a high amount of misclassification at very low pH. Black-Right-Pointing-Pointer The results improve when HCl is used to adjust the sample to low pH.

  15. Pericentric Inversion of Chromosome 1. A Case Report

    Directory of Open Access Journals (Sweden)

    Elodia Rivas Alpízar

    2015-11-01

    Full Text Available Chromosomal abnormalities are more common in infertile couples that in the general population. Among infertile patients, an overall incidence of 2.1 % and 6 % has been observed in women and men respectively. The highest incidence is found in azoospermic men, reaching up to 16 %. Pericentric inversions are among the most common balanced chromosome rearrangements, with a frequency of 1-2 %. The case of a patient treated at the Territorial Center for Assisted Reproduction in Cienfuegos due to a two-year history of infertility is presented. A cytogenetic study was conducted and a pericentric inversion of chromosome 1 46, XY inv (1 (p13 q32 was diagnosed. The importance of performing a cytogenetic study in men with severe seminal alterations is undeniable since diagnosis of this condition can lead to identification of patients at risk of transmitting it to their offspring.

  16. Mitotic chromosome condensation in vertebrates

    Energy Technology Data Exchange (ETDEWEB)

    Vagnarelli, Paola, E-mail: P.Vagnarelli@ed.ac.uk

    2012-07-15

    Work from several laboratories over the past 10-15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292-301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories-a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307-316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in the localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119-1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579-589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different classes

  17. Chromatid Painting for Chromosomal Inversion Detection Project

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose the continued development of a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and...

  18. Chromatid Painting for Chromosomal Inversion Detection Project

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and inversions) have profound genetic...

  19. CHROMOSOMAL MAPPING IN STRAINS OF STAPHYLOCOCCUS AUREUS,

    Science.gov (United States)

    STAPHYLOCOCCUS AUREUS , CHROMOSOMES), (*CHROMOSOMES, MAPPING), NITROSO COMPOUNDS, GUANIDINES, GENETICS, MUTATIONS, DRUGS, TOLERANCES(PHYSIOLOGY), TEST METHODS, DEOXYRIBONUCLEIC ACIDS, INHIBITION, RESISTANCE(BIOLOGY).

  20. PTEN alterations of the stromal cells characterise an aggressive subpopulation of pancreatic cancer with enhanced metastatic potential.

    Science.gov (United States)

    Wartenberg, Martin; Centeno, Irene; Haemmig, Stefan; Vassella, Erik; Zlobec, Inti; Galván, José A; Neuenschwander, Maja; Schlup, Cornelia; Gloor, Beat; Lugli, Alessandro; Perren, Aurel; Karamitopoulou, Eva

    2016-09-01

    Neoplastic stroma is believed to influence tumour progression. Here, we examine phosphatase and tensin homolog deleted on chromosome ten (PTEN) status in the tumour microenvironment of pancreatic ductal adenocarcinoma (PDAC) focussing especially at the stromal cells. We asses PTEN at protein, messenger RNA and DNA level using a well-characterised PDAC cohort (n = 117). miR-21, known to target PTEN, is assessed after RNA extraction from different laser-capture-microdissected cell populations, including cancer cells and juxta-tumoural and tumour-remote stroma. PTEN deletion was the most frequent cause of PTEN protein loss in PDAC cells (71%) and correlated with vascular invasion (p = 0.0176) and decreased overall survival (p = 0.0127). Concomitant PTEN protein loss in tumour and juxta-tumoural stroma, found in 21.4% of PDACs, correlated with increased distant metastasis (p = 0.0045). Stromal cells with PTEN protein loss frequently showed PTEN genetic aberrations, including hemizygous PTEN deletion (46.6%) or chromosome 10 monosomy (40%). No alterations were found in the tumour-remote stroma. miR-21 was overexpressed by cancer- and juxta-tumoural stromal cells, in some cases without simultaneous PTEN gene alterations. No PTEN mutations or promoter methylation were detected. We find various mechanisms of PTEN protein loss in the different tumour cell populations, including allelic PTEN deletions, gross chromosomal 10 aberrations and altered miR-21 expression. PTEN deletion is a major cause of PTEN protein loss in PDAC and correlates with aggressive characteristics and worse outcome. PTEN protein loss in juxta-tumoural stromal cells is mostly due to PTEN haplo-insufficiency and characterises a subgroup of PDACs with enhanced metastatic potential. In the tumour microenvironment of the invasive front, PTEN silencing by miR-21 in cancer and surrounding stromal cells acts not only cooperatively but also independently of the genetic aberrations to precipitate PTEN

  1. Prompt cytomolecular identification of chromosome aberration in irradiated blood cells

    Directory of Open Access Journals (Sweden)

    Seyed Akbar Moosavi

    2017-02-01

    Full Text Available Background: understanding the genomic alteration induced by ionizing radiation still remains to be a methodological challenge in genetic field. The energy released from this type of radiation can potentially causes structural and numerical alterations in lymphocytes, which in turn converts them into abnormal tumor cells. Chromosomal abnormalities associated with specific type of hematological malignancies are determinant factors in evaluation of radiation dose and its potential in harming the body. None the less early detection of chromosomal aberration (CA is crucial in prognosis and selection of therapy for the people exposed to irradiations. The aim of this study was to explore a swift and accurate genetic test that identifies CAs in radiologist exposed to X-rays. In addition synergistic effect of other clastogens in irradiated workers was also evaluated. Material and methods: thirty four heparinized blood samples were obtained from radiology workers exposed to X-rays. Blood samples were cultured in RPMI 1640 and F-10 Medias with and without PHA stimulation. Lymphocytes were harvested, separated and arrested at metaphase and their chromosomes were analyzed by solid and G-Banding techniques. Lymphocytic CA was also analyzed through whole chromosome painting FISH. Results: of the 37 blood sample from workers, 60% had various structural aberrations in which both the frequency and type of CAs were intensified among tobacco smokers. Conclusion: the results did not show any significant differences between the genders but other carcinogen like smoking can significantly increases the rate of CAs

  2. Gametocidal chromosomes enhancing chromosome aberration in common wheat induced by 5-azacytidine.

    Science.gov (United States)

    Su, W-Y; Cong, W-W; Shu, Y-J; Wang, D; Xu, G-H; Guo, C-H

    2013-07-08

    The gametocidal (Gc) chromosome from Aegilops spp induces chromosome mutation, which is introduced into common wheat as a tool of chromosome manipulation for genetic improvement. The Gc chromosome functions similar to a restriction-modification system in bacteria, in which DNA methylation is an important regulator. We treated root tips of wheat carrying Gc chromosomes with the hypomethylation agent 5-azacytidine; chromosome breakage and micronuclei were observed in these root tips. The frequency of aberrations differed in wheat containing different Gc chromosomes, suggesting different functions inducing chromosome breakage. Gc chromosome 3C caused the greatest degree of chromosome aberration, while Gc chromosome 3C(SAT) and 2C caused only slight chromosome aberration. Gc chromosome 3C induced different degrees of chromosome aberration in wheat varieties Triticum aestivum var. Chinese Spring and Norin 26, demonstrating an inhibition function in common wheat.

  3. Chromosome segregation in Vibrio cholerae.

    Science.gov (United States)

    Ramachandran, Revathy; Jha, Jyoti; Chattoraj, Dhruba K

    2014-01-01

    The study of chromosome segregation is currently one of the most exciting research frontiers in cell biology. In this review, we discuss our current knowledge of the chromosome segregation process in Vibrio cholerae, based primarily on findings from fluorescence microscopy experiments. This bacterium is of special interest because of its eukaryotic feature of having a divided genome, a feature shared with 10% of known bacteria. We also discuss how the segregation mechanisms of V. cholerae compare with those in other bacteria, and highlight some of the remaining questions regarding the process of bacterial chromosome segregation.

  4. Gross Motor Profile and Its Association with Socialization Skills in Children with Autism Spectrum Disorders.

    Science.gov (United States)

    Pusponegoro, Hardiono D; Efar, Pustika; Soedjatmiko; Soebadi, Amanda; Firmansyah, Agus; Chen, Hui-Ju; Hung, Kun-Long

    2016-12-01

    While social impairment is considered to be the core deficit in children with autism spectrum disorder (ASD), a large proportion of these children have poor gross motor ability, and gross motor deficits may influence socialization skills in children with ASD. The objectives of this study were to compare gross motor skills in children with ASD to typically developing children, to describe gross motor problems in children with ASD, and to investigate associations between gross motor and socialization skills in children with ASD. This was a cross-sectional study including 40 ASD children aged from 18 months to 6 years and 40 age-matched typically developing controls. Gross motor and socialization skills were scored using the Vineland Adaptive Behavior Scales, 2(nd) edition (Vineland-II). Below average gross motor function was found in eight of 40 (20%) ASD children. The mean gross motor v-scale score in the ASD group was 15.1 [standard deviation (SD) 3.12], significantly lower than in the control group [18.7, SD 2.09, p = 0.0001; 95% confidence intervals (CI) from -4.725 to -2.525]. The differences were most prominent in ball throwing and catching, using stairs, jumping, and bicycling. The ASD children with gross motor impairments had a mean socialization domain score of 66.6 (SD 6.50) compared to 85.7 (SD 10.90) in those without gross motor impairments (p = 0.0001, 95% CI from -25.327 to -12.736). Children with ASD had lower gross motor skills compared to typically developing children. Gross motor impairments were found in 20% of the ASD children, and these children also had lower socialization skills than those without gross motor impairments. Copyright © 2016. Published by Elsevier B.V.

  5. Numerous transitions of sex chromosomes in Diptera.

    Science.gov (United States)

    Vicoso, Beatriz; Bachtrog, Doris

    2015-04-01

    Many species groups, including mammals and many insects, determine sex using heteromorphic sex chromosomes. Diptera flies, which include the model Drosophila melanogaster, generally have XY sex chromosomes and a conserved karyotype consisting of six chromosomal arms (five large rods and a small dot), but superficially similar karyotypes may conceal the true extent of sex chromosome variation. Here, we use whole-genome analysis in 37 fly species belonging to 22 different families of Diptera and uncover tremendous hidden diversity in sex chromosome karyotypes among flies. We identify over a dozen different sex chromosome configurations, and the small dot chromosome is repeatedly used as the sex chromosome, which presumably reflects the ancestral karyotype of higher Diptera. However, we identify species with undifferentiated sex chromosomes, others in which a different chromosome replaced the dot as a sex chromosome or in which up to three chromosomal elements became incorporated into the sex chromosomes, and others yet with female heterogamety (ZW sex chromosomes). Transcriptome analysis shows that dosage compensation has evolved multiple times in flies, consistently through up-regulation of the single X in males. However, X chromosomes generally show a deficiency of genes with male-biased expression, possibly reflecting sex-specific selective pressures. These species thus provide a rich resource to study sex chromosome biology in a comparative manner and show that similar selective forces have shaped the unique evolution of sex chromosomes in diverse fly taxa.

  6. Numerous transitions of sex chromosomes in Diptera.

    Directory of Open Access Journals (Sweden)

    Beatriz Vicoso

    2015-04-01

    Full Text Available Many species groups, including mammals and many insects, determine sex using heteromorphic sex chromosomes. Diptera flies, which include the model Drosophila melanogaster, generally have XY sex chromosomes and a conserved karyotype consisting of six chromosomal arms (five large rods and a small dot, but superficially similar karyotypes may conceal the true extent of sex chromosome variation. Here, we use whole-genome analysis in 37 fly species belonging to 22 different families of Diptera and uncover tremendous hidden diversity in sex chromosome karyotypes among flies. We identify over a dozen different sex chromosome configurations, and the small dot chromosome is repeatedly used as the sex chromosome, which presumably reflects the ancestral karyotype of higher Diptera. However, we identify species with undifferentiated sex chromosomes, others in which a different chromosome replaced the dot as a sex chromosome or in which up to three chromosomal elements became incorporated into the sex chromosomes, and others yet with female heterogamety (ZW sex chromosomes. Transcriptome analysis shows that dosage compensation has evolved multiple times in flies, consistently through up-regulation of the single X in males. However, X chromosomes generally show a deficiency of genes with male-biased expression, possibly reflecting sex-specific selective pressures. These species thus provide a rich resource to study sex chromosome biology in a comparative manner and show that similar selective forces have shaped the unique evolution of sex chromosomes in diverse fly taxa.

  7. Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran

    Directory of Open Access Journals (Sweden)

    Najmeh Jouyan

    2012-01-01

    Full Text Available Background: Chromosome abnormality (CA including Sex chromosomes abnormality (SCAs is one of the most important causes of disordered sexual development and infertility. SCAs formed by numerical or structural alteration in X and Y chromosomes, are the most frequently CA encountered at both prenatal diagnosis and at birth. Objective: This study describes cytogenetic findings of cases suspected with CA referred for cytogenetic study. Materials and Methods: Blood samples of 4151 patients referred for cytogenetic analysis were cultured for chromosome preparation. Karyotypes were prepared for all samples and G-Banded chromosomes were analyzed using x100 objective lens. Sex chromosome aneuploidy cases were analyzed and categorized in two groups of Turners and Klinefelter’s syndrome (KFS. Results: Out of 230 (5.54% cases with chromosomally abnormal karyotype, 122 (30% cases suspected of sexual disorder showed SCA including 46% Turner’s syndrome, 46% KFS and the remaining other sex chromosome abnormalities. The frequency of classic and mosaic form of Turner’s syndrome was 33% and 67%, this was 55% and 45% for KFS, respectively. Conclusion: This study shows a relatively high sex chromosome abnormality in this region and provides cytogenetic data to assist clinicians and genetic counselors to determine the priority of requesting cytogenetic study. Differences between results from various reports can be due to different genetic background or ethnicity.

  8. The Relationship Between Spontaneous Telomere Loss and Chromosome Instability in a Human Tumor Cell Line

    Directory of Open Access Journals (Sweden)

    Bijan Fouladi

    2000-01-01

    Full Text Available Chromosome instability plays an important role in cancer by promoting the alterations in the genome required for tumor cell progression. The loss of telomeres that protect the ends of chromosomes and prevent chromosome fusion has been proposed as one mechanism for chromosome instability in cancer cells, however, there is little direct evidence to support this hypothesis. To investigate the relationship between spontaneous telomere loss and chromosome instability in human cancer cells, clones of the EJ-30 tumor cell line were isolated in which a herpes simplex virus thymidine kinase (HSV-tk gene was integrated immediately adjacent to a telomere. Selection for HSV-tkdeficient cells with ganciclovir demonstrated a high rate of loss of the end these "marked" chromosomes (10-4 events/cell per generation. DNA sequence and cytogenetic analysis suggests that the loss of function of the HSV-tk gene most often involves telomere loss, sister chromatid fusion, and prolonged periods of chromosome instability. In some HSV-tk-deficient cells, telomeric repeat sequences were added on to the end of the truncated HSV-tk gene at a new location, whereas in others, no telomere was detected on the end of the marked chromosome. These results suggest that spontaneous telomere loss is a mechanism for chromosome instability in human cancer cells.

  9. Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study

    Directory of Open Access Journals (Sweden)

    Frenny J Sheth

    2013-01-01

    Full Text Available Background: Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages. Purpose: The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes. Materials and Methods: A retrospective cytogenetic study was carried out on 4859 individuals having a history of recurrent miscarriages. The cases were analyzed using G-banding and fluorescence in situ hybridization wherever necessary. Results: Chromosomal rearrangements were found in 170 individuals (3.5%. Translocations were seen in 72 (42.35% cases. Of these, reciprocal translocations constituted 42 (24.70% cases while Robertsonian translocations were detected in 30 (17.64% cases. 7 (4.11% cases were mosaic, 8 (4.70% had small supernumerary marker chromosomes and 1 (0.6% had an interstitial microdeletion. Nearly, 78 (1.61% cases with heteromorphic variants were seen of which inversion of Y chromosome (57.70% and chromosome 9 pericentromeric variants (32.05% were predominantly involved. Conclusions: Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options.

  10. Optimal Bilinear Control of Gross--Pitaevskii Equations

    KAUST Repository

    Hintermüller, Michael

    2013-01-01

    A mathematical framework for optimal bilinear control of nonlinear Schrödinger equations of Gross--Pitaevskii type arising in the description of Bose--Einstein condensates is presented. The obtained results generalize earlier efforts found in the literature in several aspects. In particular, the cost induced by the physical workload over the control process is taken into account rather than the often used L^2- or H^1-norms for the cost of the control action. Well-posedness of the problem and existence of an optimal control are proved. In addition, the first order optimality system is rigorously derived. Also a numerical solution method is proposed, which is based on a Newton-type iteration, and used to solve several coherent quantum control problems.

  11. Gross National Happiness: Ideology versus practices in Bhutanese Seconday Schools

    DEFF Research Database (Denmark)

    Kjær-Rasmussen, Lone Krogh; Giri, Krishna Prasad

    2015-01-01

    This paper investigates practices related to the ideology of infusing Gross National Happiness (GNH) into school curriculum, the effectiveness of the meditation and mind training and the implication of GNH for school environment. It also explores how GNH ambience has been managed and practiced......, the influence of the concept of GNH in school life generally and specifically and the effects on teachers and students of mindfull training in the class, how does it work? The investigation is based on empirical data from eight selected secondary schools spread all over Bhutan. Principals, teachers, students...... and parents were interviewed in 2012/2013 individually and in groups. Further more classroom observations took place. Finally the investigation is based on literature review and readings of documents, which describe and analyse policies, principles, strategies and philosophies related to the implementation...

  12. Measurement and Quantification of Gross Human Shoulder Motion

    Directory of Open Access Journals (Sweden)

    Jeremy T. Newkirk

    2013-01-01

    Full Text Available The shoulder girdle plays an important role in the large pointing workspace that humans enjoy. The goal of this work was to characterize the human shoulder girdle motion in relation to the arm. The overall motion of the human shoulder girdle was characterized based on motion studies completed on test subjects during voluntary (natural/unforced motion. The collected data from the experiments were used to develop surface fit equations that represent the position and orientation of the glenohumeral joint for a given humeral pointing direction. These equations completely quantify gross human shoulder girdle motion relative to the humerus. The equations are presented along with goodness-of-fit results that indicate the equations well approximate the motion of the human glenohumeral joint. This is the first time the motion has been quantified for the entire workspace, and the equations provide a reference against which to compare future work.

  13. Labor Absorption and Its Impact on Gross Regional Domestic Product

    Directory of Open Access Journals (Sweden)

    Made Ika Prastyadewi

    2013-12-01

    Full Text Available The objective of this study is to examine the determinants of labor absorption in the trade, hotel and restaurant sector and its impact on Gross Regional Domestic Product/GRDP at Bali Province. This study is important due to the fact that the GRDP in this sector is the highest compared to other sector but the labor absorption is lower than the agriculture sector. This study used panel data comprising 9 regencies/cities at Bali Province in the period 2003-2009 including fixed effect model and simultaneous equation model of Two-Stage Least Square. The results showed that GRDP, working age population, and the minimum wage have positive effect on employment, while the educated unemployment has no significant effect on the employment in the trade, hotel and restaurant sector. In addition, increases in employment and workers productivity have positive and significant effects the GRDP in the trade, hotel and restaurant sector at Bali Province.

  14. Specific features of measuring the ecologically adjusted gross regional product

    Directory of Open Access Journals (Sweden)

    Douginets Ganna V.

    2013-03-01

    Full Text Available The article formulates a necessity of deepening and improvement of ecological and economic indicators and considers the existing indices and indicators of sustainable development. It conducts a comparative analysis of existing norms of calculation of the ecological tax and fees for environmental pollution. It marks main problems of nature management in Ukraine and their consequences, namely, negative impact on health of the population. It offers methods of measurement of the ecologically adjusted gross regional product (EGRP on the basis of improvement of the cost method. It analyses dependence of the regional welfare on the state of environment with the help of measuring the EGRP of Ukrainian regions. It studies the pressure on Ukrainian regions by components: pollution of aquatic environment, atmospheric air, land resources and rates of waste formation. It conducts grouping of regions by EGRP per capita with specification of positive and negative dynamics of the indicator.

  15. Stimulation of gross dimethylsulfide (DMS) production by solar radiation

    Science.gov (United States)

    Galí, Martí; Saló, Violeta; Almeda, Rodrigo; Calbet, Albert; Simó, Rafel

    2011-08-01

    Oceanic gross DMS production (GP) exerts a fundamental control on the concentration and the sea-air flux of this climatically-active trace gas. However, it is a poorly constrained process, owing to the complexity of the microbial food web processes involved and their interplay with physical forcing, particularly with solar radiation. The “inhibitor method”, using dimethyldisulfide (DMDS) or other compounds to inhibit bacterial DMS consumption, has been frequently used to determine GP in dark incubations. In the work presented here, DMDS addition was optimized for its use in light incubations. By comparing simultaneous dark and light measurements of GP in meso- to ultraoligotrophic waters, we found a significant enhancement of GP in natural sunlight in 7 out of 10 experiments. Such stimulation, which was generally between 30 and 80% on a daily basis, occurred throughout contrasting microbial communities and oceanographic settings.

  16. Full Phase Diagram of the Massive Gross-Neveu Model

    CERN Document Server

    Schnetz, O; Urlichs, K; Schnetz, Oliver; Thies, Michael; Urlichs, Konrad

    2006-01-01

    The massive Gross-Neveu model is solved in the large N limit at finite temperature and chemical potential. The scalar potential is given in terms of Jacobi elliptic functions. It contains three parameters which are determined by transcendental equations. Self-consistency of the scalar potential is proved. The phase diagram for non-zero bare quark mass is found to contain a kink-antikink crystal phase as well as a massive fermion gas phase featuring a cross-over from light to heavy effective fermion mass. For zero bare quark mass we recover the three known phases kink-antikink crystal, massless fermion gas, and massive fermion gas. All phase transitions are shown to be of second order. Equations for the phase boundaries are given and solved numerically. Implications on condensed matter physics are indicated where our results generalize the bipolaron lattice in non-degenerate conducting polymers to finite temperature.

  17. Nucleolar organization, ribosomal DNA array stability, and acrocentric chromosome integrity are linked to telomere function.

    Directory of Open Access Journals (Sweden)

    Kaitlin M Stimpson

    Full Text Available The short arms of the ten acrocentric human chromosomes share several repetitive DNAs, including ribosomal RNA genes (rDNA. The rDNA arrays correspond to nucleolar organizing regions that coalesce each cell cycle to form the nucleolus. Telomere disruption by expressing a mutant version of telomere binding protein TRF2 (dnTRF2 causes non-random acrocentric fusions, as well as large-scale nucleolar defects. The mechanisms responsible for acrocentric chromosome sensitivity to dysfunctional telomeres are unclear. In this study, we show that TRF2 normally associates with the nucleolus and rDNA. However, when telomeres are crippled by dnTRF2 or RNAi knockdown of TRF2, gross nucleolar and chromosomal changes occur. We used the controllable dnTRF2 system to precisely dissect the timing and progression of nucleolar and chromosomal instability induced by telomere dysfunction, demonstrating that nucleolar changes precede the DNA damage and morphological changes that occur at acrocentric short arms. The rDNA repeat arrays on the short arms decondense, and are coated by RNA polymerase I transcription binding factor UBF, physically linking acrocentrics to one another as they become fusogenic. These results highlight the importance of telomere function in nucleolar stability and structural integrity of acrocentric chromosomes, particularly the rDNA arrays. Telomeric stress is widely accepted to cause DNA damage at chromosome ends, but our findings suggest that it also disrupts chromosome structure beyond the telomere region, specifically within the rDNA arrays located on acrocentric chromosomes. These results have relevance for Robertsonian translocation formation in humans and mechanisms by which acrocentric-acrocentric fusions are promoted by DNA damage and repair.

  18. Chromosome fragility in Freemartin cattle

    Directory of Open Access Journals (Sweden)

    V. Barbieri

    2010-04-01

    Full Text Available The aim of the present study was to verify chromosome fragility in freemartin cattle using chromosome aberration (CA and sister chromatid exchange (SCE tests. A total of eighteen co-twins were investigated. Fourteen animals were identified as cytogenetically chimeric (2n=60, XX/XY while 4 were classified as normal. Freemartin cattle showed a higher percentage of aneuploid cells (18.64% and highly significant statistical differences (P < 0.001 in mean values of gaps (4.53 ± 2.05, chromatid breaks (0.26 ± 0.51, and significant statistical differences (P < 0.005 in mean values of chromosome breaks (0.12 ± 0.43 when compared to 10 control animals from single births (aneuploid cells, 11.20%; gaps, 2.01 ± 1.42; chromatid breaks, 0.05 ± 0.22; chromosome breaks, 0.02 ± 0.14.

  19. Epilepsy and ring chromosome 20: case report

    Directory of Open Access Journals (Sweden)

    Gomes Marleide da Mota

    2002-01-01

    Full Text Available We present the clinical, electroencephalographic, neuroimaging (brain magnetic resonance image - MRI and spectroscopy by MRI and cytogenetic findings of a young male patient with a rare cytogenetic anomaly characterised by a de novo 46,XY,r(20(p13q13.3 karyotype. He presents with mental retardation, emotional liability, and strabismus, without any other significant dysmorphies. There are brain anomalies characterised by corpus callosum, uvula, nodule and cerebellum pyramid hypoplasias, besides arachnoid cysts in the occipital region. He had seizures refractory to pharmacotherapy and long period of confusional status with or without a motor component. The authors recognised that the EEG pattern was not fixed but changed over time, specially for bursts of slow waves with great amplitude accompanied or not by sharp components, and bursts of theta waves sharply contoured. Previously, epilepsy solely has been assigned to region 20q13. However, the important structural cerebral alterations present in our case has not been reported associated to such chromosomal abnormality and may indicate possible new chromosomal sites where such atypical neurological characteristics could be mapped.

  20. Gonadoblastoma and Y-chromosome fluorescence.

    Science.gov (United States)

    Lukusa, T; Fryns, J P; van den Berghe, H

    1986-04-01

    In this report we summarize our experience in 4 patients with 45,X/46,XY, one patient with 45,X/47,XYY mosaicism, and one patient with 46,XY karyotype and ambiguous external genitalia. In the 3 patients with a fluorescent Y-chromosome, the development of one or two gonadoblastomas was found, independent of the age of the patients at the time of examination. In the 3 patients with 45,X/46,XYnf mosaicism no gonadoblastoma was detected. This finding prompted us to review the data on patients reported with 45,X/46,XYnf mosaicism. Up to now, no patient with well documented 45,X/46,XYnf mosaicism and convincing evidence of development of gonadoblastoma has been reported. These data seem to confirm that alterations of the characteristic distal fluorescence of Yq may protect the dysgenetic gonad against tumoral degeneration in patients with 45,X/46,XY mosaicism. Possible mechanisms responsible for these changes in the oncogenic potential of Yq in relation with the Y chromosome fluorescence are discussed.

  1. Single Epoch GPS Deformation Signals Extraction and Gross Error Detection Technique Based on Wavelet Transform

    Institute of Scientific and Technical Information of China (English)

    WANG Jian; GAO Jingxiang; XU Changhui

    2006-01-01

    Wavelet theory is efficient as an adequate tool for analyzing single epoch GPS deformation signal. Wavelet analysis technique on gross error detection and recovery is advanced. Criteria of wavelet function choosing and Mallat decomposition levels decision are discussed. An effective deformation signal extracting method is proposed, that is wavelet noise reduction technique considering gross error recovery, which combines wavelet multi-resolution gross error detection results. Time position recognizing of gross errors and their repairing performance are realized. In the experiment, compactly supported orthogonal wavelet with short support block is more efficient than the longer one when discerning gross errors, which can obtain more finely analyses. And the shape of discerned gross error of short support wavelet is simpler than that of the longer one. Meanwhile, the time scale is easier to identify.

  2. Chromosome Segregation in Vibrio cholerae

    OpenAIRE

    Ramachandran, R.; Jha, J.; Chattoraj, DK

    2014-01-01

    The study of chromosome segregation is currently one of the most exciting research frontiers in cell biology. In this review, we discuss our current knowledge of the chromosome segregation process in Vibrio cholerae, based primarily on findings from fluorescence microscopy experiments. This bacterium is of special interest because of its eukaryotic feature of having a divided genome, a feature shared with 10% of known bacteria. We also discuss how the segregation mechanisms of V. cholerae com...

  3. Short- and long-term effects of chromosome mis-segregation and aneuploidy.

    Science.gov (United States)

    Santaguida, Stefano; Amon, Angelika

    2015-08-01

    Dividing cells that experience chromosome mis-segregation generate aneuploid daughter cells, which contain an incorrect number of chromosomes. Although aneuploidy interferes with the proliferation of untransformed cells, it is also, paradoxically, a hallmark of cancer, a disease defined by increased proliferative potential. These contradictory effects are also observed in mouse models of chromosome instability (CIN). CIN can inhibit and promote tumorigenesis. Recent work has provided insights into the cellular consequences of CIN and aneuploidy. Chromosome mis-segregation per se can alter the genome in many more ways than just causing the gain or loss of chromosomes. The short- and long-term effects of aneuploidy are caused by gene-specific effects and a stereotypic aneuploidy stress response. Importantly, these recent findings provide insights into the role of aneuploidy in tumorigenesis.

  4. How chromosome mis-segregation leads to cancer: lessons from BubR1 mouse models.

    Science.gov (United States)

    Lee, Hyunsook

    2014-10-31

    Alteration in chromosome numbers and structures instigate and foster massive genetic instability. As Boveri has seen a hundred years ago (Boveri, 1914; 2008), aneuploidy is hallmark of many cancers. However, whether aneuploidy is the cause or the result of cancer is still at debate. The molecular mechanism behind aneuploidy includes the chromo-some mis-segregation in mitosis by the compromise of spindle assembly checkpoint (SAC). SAC is an elaborate network of proteins, which monitor that all chromosomes are bipolarly attached with the spindles. Therefore, the weakening of the SAC is the major reason for chromosome number instability, while complete compromise of SAC results in detrimental death, exemplified in natural abortion in embryonic stage. Here, I will review on the recent progress on the understanding of chromosome mis-segregation and cancer, based on the comparison of different mouse models of BubR1, the core component of SAC.

  5. Gene expression meta-analysis identifies chromosomal regions involved in ovarian cancer survival

    DEFF Research Database (Denmark)

    Thomassen, Mads; Jochumsen, Kirsten M; Mogensen, Ole;

    2009-01-01

    the relation of gene expression and chromosomal position to identify chromosomal regions of importance for early recurrence of ovarian cancer. By use of *Gene Set Enrichment Analysis*, we have ranked chromosomal regions according to their association to survival. Over-representation analysis including 1......Ovarian cancer cells exhibit complex karyotypic alterations causing deregulation of numerous genes. Some of these genes are probably causal for cancer formation and local growth, whereas others are causal for metastasis and recurrence. By using publicly available data sets, we have investigated......-4 consecutive cytogenetic bands identified regions with increased expression for chromosome 5q12-14, and a very large region of chromosome 7 with the strongest signal at 7p15-13 among tumors from short-living patients. Reduced gene expression was identified at 4q26-32, 6p12-q15, 9p21-q32, and 11p14-11. We...

  6. B chromosomes and sex in animals.

    Science.gov (United States)

    Camacho, J P M; Schmid, M; Cabrero, J

    2011-01-01

    Supernumerary (B) chromosomes are dispensable elements found in many eukaryote genomes in addition to standard (A) chromosomes. In many respects, B chromosomes resemble sex chromosomes, so that a common ancestry for them has frequently been suggested. For instance, B chromosomes in grasshoppers, and other insects, show a pycnotic cycle of condensation-decondensation during meiosis remarkably similar to that of the X chromosome. In some cases, B chromosome size is even very similar to that of the X chromosome. These resemblances have led to suggest the X as the B ancestor in many cases. In addition, sex chromosome origin from B chromosomes has also been suggested. In this article, we review the existing evidence for both evolutionary pathways, as well as sex differences for B frequency at adult and embryo progeny levels, B chromosome effects or B chromosome transmission. In addition, we review cases found in the literature showing sex-ratio distortion associated with B chromosome presence, the most extreme case being the paternal sex ratio (PSR) chromosomes in some Hymenoptera. We finally analyse the possibility of B chromosome regularisation within the host genome and, as a consequence of it, whether B chromosomes can become regular members of the host genome.

  7. Origin and domestication of papaya Yh chromosome

    Science.gov (United States)

    Sex in papaya is controlled by a pair of nascent sex chromosomes. Females are XX, and two slightly different Y chromosomes distinguish males (XY) and hermaphrodites (XYh). The hermaphrodite-specific region of the Yh chromosome (HSY) and its X chromosome counterpart were sequenced and analyzed previo...

  8. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  9. Flow karyotyping and sorting of human chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Gray, J.W.; Lucas, J.; Peters, D.; Pinkel, D.; Trask, B.; van den Engh, G.; Van Dilla, M.A.

    1986-07-16

    Flow cytometry and sorting are becoming increasingly useful as tools for chromosome classfication and for the detection of numerical and structural chromosome aberrations. Chromosomes of a single type can be purified with these tools to facilitate gene mapping or production of chromosome specific recombinant DNA libraries. For analysis of chromosomes with flow cytometry, the chromosomes are extracted from mitotic cells, stained with one or more fluorescent dyes and classified one-by-one according to their dye content(s). Thus, the flow approach is fundamentally different than conventional karyotyping where chromosomes are classified within the context of a metaphase spread. Flow sorting allows purification of chromosomes that can be distinguished flow cytometrically. The authors describe the basic principles of flow cytometric chromosome classification i.e. flow karyotyping, and chromosome sorting and describe several applications. 30 refs., 8 figs.

  10. Effect of physical therapy frequency on gross motor function in children with cerebral palsy.

    Science.gov (United States)

    Park, Eun-Young

    2016-06-01

    [Purpose] This study attempted to investigate the effect of physical therapy frequency based on neurodevelopmental therapy on gross motor function in children with cerebral palsy. [Subjects and Methods] The study sample included 161 children with cerebral palsy who attended a convalescent or rehabilitation center for disabled individuals or a special school for children with physical disabilities in South Korea. Gross Motor Function Measure data were collected according to physical therapy frequency based on neurodevelopmental therapy for a period of 1 year. [Results] The correlation between physical therapy frequency and Gross Motor Function Measure scores for crawling and kneeling, standing, walking, running and jumping, and rolling, and the Gross Motor Function Measure total score was significant. The differences in gross motor function according to physical therapy frequency were significant for crawling, kneeling, standing, and Gross Motor Function Measure total score. The differences in gross motor function according to frequency of physical therapy were significant for standing in Gross Motor Function Classification System Level V. [Conclusion] Intensive physical therapy was more effective for improving gross motor function in children with cerebral palsy. In particular, crawling and kneeling, and standing ability showed greater increases with intensive physical therapy.

  11. Effect of physical therapy frequency on gross motor function in children with cerebral palsy

    Science.gov (United States)

    Park, Eun-Young

    2016-01-01

    [Purpose] This study attempted to investigate the effect of physical therapy frequency based on neurodevelopmental therapy on gross motor function in children with cerebral palsy. [Subjects and Methods] The study sample included 161 children with cerebral palsy who attended a convalescent or rehabilitation center for disabled individuals or a special school for children with physical disabilities in South Korea. Gross Motor Function Measure data were collected according to physical therapy frequency based on neurodevelopmental therapy for a period of 1 year. [Results] The correlation between physical therapy frequency and Gross Motor Function Measure scores for crawling and kneeling, standing, walking, running and jumping, and rolling, and the Gross Motor Function Measure total score was significant. The differences in gross motor function according to physical therapy frequency were significant for crawling, kneeling, standing, and Gross Motor Function Measure total score. The differences in gross motor function according to frequency of physical therapy were significant for standing in Gross Motor Function Classification System Level V. [Conclusion] Intensive physical therapy was more effective for improving gross motor function in children with cerebral palsy. In particular, crawling and kneeling, and standing ability showed greater increases with intensive physical therapy. PMID:27390440

  12. Human chromosomes: Structure, behavior, and effects

    Energy Technology Data Exchange (ETDEWEB)

    Therman, E.; Susman, M.

    1993-12-31

    The book `Human Chromosomes: Structure, Behavior, and Effects` covers the most important topics regarding human chromosomes and current research in cytogenetics. Attention is given both to structure and function of autosomes and sex chromosomes, as well as definitions and causes of chromosomal aberrations. This often involves discussion about various aspects of the cell cycle (both mitosis and meiosis). Methods and techniques involved in researching and mapping human chromosomes are also discussed.

  13. [Colorectal cancer (CCR): genetic and molecular alterations].

    Science.gov (United States)

    Juárez-Vázquez, Clara Ibet; Rosales-Reynoso, Mónica Alejandra

    2014-01-01

    The aim of this review is to present a genetic and molecular overview of colorectal carcinogenesis (sporadic and hereditary origin) as a multistage process, where there are a number of molecular mechanisms associated with the development of colorectal cancer and genomic instability that allows the accumulation of mutations in proto-oncogenes and tumor suppressor genes, chromosomal instability, and methylation and microsatellite instability, and the involvement of altered expression of microRNAs' prognosis factors.

  14. The TP53 dependence of radiation-induced chromosome instability in human lymphoblastoid cells

    Science.gov (United States)

    Schwartz, Jeffrey L.; Jordan, Robert; Evans, Helen H.; Lenarczyk, Marek; Liber, Howard

    2003-01-01

    The dose and TP53 dependence for the induction of chromosome instability were examined in cells of three human lymphoblastoid cell lines derived from WIL2 cells: TK6, a TP53-normal cell line, NH32, a TP53-knockout created from TK6, and WTK1, a WIL2-derived cell line that spontaneously developed a TP53 mutation. Cells of each cell line were exposed to (137)Cs gamma rays, and then surviving clones were isolated and expanded in culture for approximately 35 generations before the frequency and characteristics of the instability were analyzed. The presence of dicentric chromosomes, formed by end-to-end fusions, served as a marker of chromosomal instability. Unexposed TK6 cells had low levels of chromosomal instability (0.002 +/- 0.001 dicentrics/cell). Exposure of TK6 cells to doses as low as 5 cGy gamma rays increased chromosome instability levels nearly 10-fold to 0.019 +/- 0.008 dicentrics/cell. There was no further increase in instability levels beyond 5 cGy. In contrast to TK6 cells, unexposed cultures of WTK1 and NH32 cells had much higher levels of chromosome instability of 0.034 +/- 0.007 and 0.041 +/- 0.009, respectively, but showed little if any effect of radiation on levels of chromosome instability. The results suggest that radiation exposure alters the normal TP53-dependent cell cycle checkpoint controls that recognize alterations in telomere structure and activate apoptosis.

  15. Initiation of DNA replication from non-canonical sites on an origin-depleted chromosome.

    Directory of Open Access Journals (Sweden)

    Naomi L Bogenschutz

    Full Text Available Eukaryotic DNA replication initiates from multiple sites on each chromosome called replication origins (origins. In the budding yeast Saccharomyces cerevisiae, origins are defined at discrete sites. Regular spacing and diverse firing characteristics of origins are thought to be required for efficient completion of replication, especially in the presence of replication stress. However, a S. cerevisiae chromosome III harboring multiple origin deletions has been reported to replicate relatively normally, and yet how an origin-deficient chromosome could accomplish successful replication remains unknown. To address this issue, we deleted seven well-characterized origins from chromosome VI, and found that these deletions do not cause gross growth defects even in the presence of replication inhibitors. We demonstrated that the origin deletions do cause a strong decrease in the binding of the origin recognition complex. Unexpectedly, replication profiling of this chromosome showed that DNA replication initiates from non-canonical loci around deleted origins in yeast. These results suggest that replication initiation can be unexpectedly flexible in this organism.

  16. Gross and histologic features of gastritis due to Ophidascaris arndti in tropical rattlesnakes ( Crotalus durissus

    Directory of Open Access Journals (Sweden)

    É.M. Mello

    Full Text Available ABSTRACT The tropical rattlesnake (Crotalus durissus is a snake of great importance for biomedical industry since its poison is used for the production of antiophidic serum and researches. Several conditions related to animal health, such as diseases and parasites, which can promote the reduction of poison production by these snakes should be investigated. Accordingly, the aim of this study was to characterize the gross and microscopic lesions related to the presence of Ophidascaris arndti in stomachs of tropical rattlesnakes. The gastrointestinal tract of thirty-five South American rattlesnakes captured in Southeastern region of Brazil were analyzed and nineteen animals showed infestation by the parasites, found in the small intestine and, especially, in the stomach of the hosts. Grossly, lesions were characterized by mucosal ulcers occasionally associated with hemorrhage. Microscopic alterations included histiocytic granulomas, fibrosis, necrosis, and hemorrhage. Based on these findings, the diagnosis of a parasitic granulomatous disease was made. The lesions may be related to the cause of death in captivity snakes, since the lesions can promote secondary infections by opportunistic bacteria. Moreover, the intense inflammatory response accompanied by fibrosis may be related to poor functioning of the gastric snakes, which it may exhibit frequent regurgitation of the food.

  17. ["Die grosse Barb" in the museum of the University of Marburg. An early documentation of acromegaly].

    Science.gov (United States)

    Krause, W; Rassner, G; Happle, R

    2009-06-01

    The university museum for cultural history in the castle of Marburg has a portrait "Die grosse Barb", which represents a women suffering from acromegaly. She shows the typical pathologic alterations: thickening of the skin folds, thickening of the lips and the eyelids, growth of bones and cartilages, lengthening of the nose, enlargement of the ears, protrusion of the zygoma, mandible and the chin. Acromegaly is a consequence of enhanced secretion of growth hormone, which occurs also as a symptom of several syndromes, such as multiple endocrine neoplasia type 1, McCune-Albright-syndrome, and NAME syndrome (Carney complex type I). The most remarkable symptom of acromegaly is the gigantism. This occurs also in androgen-deficient states, such as the Klinefelter syndrome and some more genetic syndromes, of which the Simpson-Golabi-Behmel syndrome, the Sotos syndrome, the Marfan syndrome, the homocystinuria, and the fragile X-syndrome may be mentioned. Nothing is known on the further fate of the patient shown in the portrait. It is also unknown, whether she owes her position as a chambermaid to her gigantism, for it was a common use in courts to have people with abnormal body shapes in attendance.

  18. Assessment outcomes: computerized instruction in a human gross anatomy course.

    Science.gov (United States)

    Bukowski, Elaine L

    2002-01-01

    New and traditional educational media were used to study alternative methods of instruction in a human gross anatomy course. Three consecutive entry-level physical therapy (PT) classes (55 students total) participated in this study. No other anatomy course was available to these students during this time. During the first year, all entering PT students (n = 18) completed a traditional cadaver anatomy course. This traditional group attended weekly lectures and dissection laboratories for 15 weeks. During the second year, the next entering class of PT students (n = 17) completed a self-study, computerized noncadaver anatomy course. This self-study group attended an introductory session to receive course objectives and instruction in using the computer package chosen for the study. After the introductory session, this group worked independently for the remainder of their 15-week course. During the third year, the entering class of PT students (n = 20) attended weekly lectures and completed a self-study, computerized non-cadaver laboratory course. This lecture and self-study group attended an introductory session to review course objectives and receive instruction in using the computer package. For the remainder of their 15-week course, this group attended a weekly lecture and worked independently on the computer for the laboratory portion of their course. All groups kept time logs, recording class and study time for each day of the course. The time logs were collected on the last day of each course. Each group's performance in anatomy-based system courses was followed through the remainder of the PT curricula, including clinical rotations, and through the completion of the state board licensure examination. Data were analyzed using a multivariate analysis of variance and a Kruskal-Wallis analysis of variance. There was no significant difference in anatomy course class means, class study times, performance throughout the remainder of the PT curricula, and performance

  19. Chromosome therapy. Correction of large chromosomal aberrations by inducing ring chromosomes in induced pluripotent stem cells (iPSCs).

    Science.gov (United States)

    Kim, Taehyun; Bershteyn, Marina; Wynshaw-Boris, Anthony

    2014-01-01

    The fusion of the short (p) and long (q) arms of a chromosome is referred to as a "ring chromosome." Ring chromosome disorders occur in approximately 1 in 50,000-100,000 patients. Ring chromosomes can result in birth defects, mental disabilities, and growth retardation if additional genes are deleted during the formation of the ring. Due to the severity of these large-scale aberrations affecting multiple contiguous genes, no possible therapeutic strategies for ring chromosome disorders have so far been proposed. Our recent study (Bershteyn et al.) using patient-derived fibroblast lines containing ring chromosomes, found that cellular reprogramming of these fibroblasts into induced pluripotent stem cells (iPSCs) resulted in the cell-autonomous correction of the ring chromosomal aberration via compensatory uniparental disomy (UPD). These observations have important implications for studying the mechanism of chromosomal number control and may lead to the development of effective therapies for other, more common, chromosomal aberrations.

  20. TP53-dependent chromosome instability is associated with transient reductions in telomere length in immortal telomerase-positive cell lines

    Science.gov (United States)

    Schwartz, J. L.; Jordan, R.; Liber, H.; Murnane, J. P.; Evans, H. H.

    2001-01-01

    Telomere shortening in telomerase-negative somatic cells leads to the activation of the TP53 protein and the elimination of potentially unstable cells. We examined the effect of TP53 gene expression on both telomere metabolism and chromosome stability in immortal, telomerase-positive cell lines. Telomere length, telomerase activity, and chromosome instability were measured in multiple clones isolated from three related human B-lymphoblast cell lines that vary in TP53 expression; TK6 cells express wild-type TP53, WTK1 cells overexpress a mutant form of TP53, and NH32 cells express no TP53 protein. Clonal variations in both telomere length and chromosome stability were observed, and shorter telomeres were associated with higher levels of chromosome instability. The shortest telomeres were found in WTK1- and NH32-derived cells, and these cells had 5- to 10-fold higher levels of chromosome instability. The primary marker of instability was the presence of dicentric chromosomes. Aneuploidy and other stable chromosome alterations were also found in clones showing high levels of dicentrics. Polyploidy was found only in WTK1-derived cells. Both telomere length and chromosome instability fluctuated in the different cell populations with time in culture, presumably as unstable cells and cells with short telomeres were eliminated from the growing population. Our results suggest that transient reductions in telomere lengths may be common in immortal cell lines and that these alterations in telomere metabolism can have a profound effect on chromosome stability. Copyright 2000 Wiley-Liss, Inc.

  1. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

    NARCIS (Netherlands)

    Franssen, M. T. M.; Korevaar, J. C.; Tjoa, W. M.; Leschot, N. J.; Bossuyt, P. M. M.; Knegt, A. C.; Suykerbuyk, R. F.; Hochstenbach, R.; van der Veen, F.; Goddijn, M.

    2008-01-01

    Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. Methods From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnorma

  2. Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

    NARCIS (Netherlands)

    Franssen, M. T. M.; Korevaar, J. C.; Tjoa, W. M.; Leschot, N. J.; Bossuyt, P. M. M.; Knegt, A. C.; Suykerbuyk, R. F.; Hochstenbach, R.; van der Veen, F.; Goddijn, M.

    2008-01-01

    Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. Methods From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnorma

  3. Engineering targeted chromosomal amplifications in human breast epithelial cells.

    Science.gov (United States)

    Springer, Simeon; Yi, Kyung H; Park, Jeenah; Rajpurohit, Anandita; Price, Amanda J; Lauring, Josh

    2015-07-01

    Chromosomal amplifications are among the most common genetic alterations found in human cancers. However, experimental systems to study the processes that lead to specific, recurrent amplification events in human cancers are lacking. Moreover, some common amplifications, such as that at 8p11-12 in breast cancer, harbor multiple driver oncogenes, which are poorly modeled by conventional overexpression approaches. We sought to develop an experimental system to model recurrent chromosomal amplification events in human cell lines. Our strategy is to use homologous-recombination-mediated gene targeting to deliver a dominantly selectable, amplifiable marker to a specified chromosomal location. We used adeno-associated virus vectors to target human MCF-7 breast cancer cells at the ZNF703 locus, in the recurrent 8p11-12 amplicon, using the E. coli inosine monophosphate dehydrogenase (IMPDH) enzyme as a marker. We applied selective pressure using IMPDH inhibitors. Surviving clones were found to have increased copy number of ZNF703 (average 2.5-fold increase) by droplet digital PCR and FISH. Genome-wide array comparative genomic hybridization confirmed that amplifications had occurred on the short arm of chromosome 8, without changes on 8q or other chromosomes. Patterns of amplification were variable and similar to those seen in primary human breast cancers, including "sawtooth" patterns, distal copy number loss, and large continuous regions of copy number gain. This system will allow study of the cis- and trans-acting factors that are permissive for chromosomal amplification and provide a model to analyze oncogene cooperativity in amplifications harboring multiple candidate driver genes.

  4. Formation of complex and unstable chromosomal translocations in yeast.

    Directory of Open Access Journals (Sweden)

    Kristina H Schmidt

    Full Text Available Genome instability, associated with chromosome breakage syndromes and most human cancers, is still poorly understood. In the yeast Saccharomyces cerevisiae, numerous genes with roles in the preservation of genome integrity have been identified. DNA-damage-checkpoint-deficient yeast cells that lack Sgs1, a RecQ-like DNA helicase related to the human Bloom's-syndrome-associated helicase BLM, show an increased rate of genome instability, and we have previously shown that they accumulate recurring chromosomal translocations between three similar genes, CAN1, LYP1 and ALP1. Here, the chromosomal location, copy number and sequence similarity of the translocation targets ALP1 and LYP1 were altered to gain insight into the formation of complex translocations. Among 844 clones with chromosomal rearrangements, 93 with various types of simple and complex translocations involving CAN1, LYP1 and ALP1 were identified. Breakpoint sequencing and mapping showed that the formation of complex translocation types is strictly dependent on the location of the initiating DNA break and revealed that complex translocations arise via a combination of interchromosomal translocation and template-switching, as well as from unstable dicentric intermediates. Template-switching occurred between sequences on the same chromosome, but was inhibited if the genes were transferred to different chromosomes. Unstable dicentric translocations continuously gave rise to clones with multiple translocations in various combinations, reminiscent of intratumor heterogeneity in human cancers. Base substitutions and evidence of DNA slippage near rearrangement breakpoints revealed that translocation formation can be accompanied by point mutations, and their presence in different translocation types within the same clone provides evidence that some of the different translocation types are derived from each other rather than being formed de novo. These findings provide insight into eukaryotic

  5. World distribution of gross domestic product per-capita

    Science.gov (United States)

    Bustos-Guajardo, R.; Moukarzel, Cristian F.

    2015-05-01

    It is shown that the world distribution of gross domestic products per capita (GDPpc) is well described by a trade-investment model that combines yard-sale (YS) exchange and random multiplicative noise (RMN). We first derive analytically the typical value w(r, t) of the ranked wealths for a system evolving under YS exchange and RMN. The resulting analytical expressions are fitted to data for the GDPpc of up to 200 countries, in the period 1960-2013. Our model fits the data significantly better than previously proposed approaches that consider either Noise or Trade alone. Analysis of the resulting values for the fitting parameters, and of their time dependence, suggests that: (a) International trade conditions have (from 1960 to 2008) a statistical bias towards favoring richer countries. (b) Biased international commerce is the main cause for the observed divergence of GDPpc values from 1960 to 2008. (c) After 2008, the distribution of GDPpc starts to converge, and the world product per capita stops growing.

  6. Gross congenital malformation at birth in a government hospital

    Directory of Open Access Journals (Sweden)

    Sandeep Sachdeva

    2014-01-01

    Full Text Available A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks with three leading malformation as anencephaly (44.68%, talipes equinovarus (17.02% and meningomyelocele (10.63%. Higher risk of malformed births were noticed amongst un-booked (2.07% in-comparison to booked (1.01% mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]; gravida status of at least 3 (2.69% followed by 1 (1.43% and 2 (1.0% respectively; pre-term (5.13% vs. term (0.66%; cesarean section (4.36% versus vaginal delivery (0.62%. Mortality was significantly higher among congenitally malformed (17.35% than normal (0.34% newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid that needs appropriate attention and management.

  7. Progestogen-related gross and microscopic changes in female Beagles.

    Science.gov (United States)

    Nelson, L W; Kelly, W A

    1976-01-01

    Long-term studies of megestrol acetate and chlormadinone acetate in 100 female dogs are in progress. Doses of zero, one, 10 and 25 times the expected human dose of megestrol acetate and 25 times the expected human dose of chlormadinone acetate (on a milligram per kilogram body weight basis) are being given daily. During the first 4 years, eight dogs from each of the five groups were killed. The principal gross findings included enlarged uteri with mucoid material in the lumina, mammary development in dogs given middle and high doses of megestrol acetate and chlormadinone acetate, and thickened gallbladder walls in dogs given high doses of each. Histologic evaluation showed inhibition of ovulation for progestogen-treated dogs and suppression of ovarian follicular development with the high doses. Cystic endometrial hyperplasia was slight in the low-dose dogs and moderate to severe in most of the high-dose dogs; a few also had ulcerative endometritis and pyometra. The mammary glands of dogs given the middle and high doses produced lobules, acini, and secretion exceeding natural metestrus. Slight to marked cystic mucinous hyperplasia occurred in the gallbladders of most dogs given the high doses. Tow high-dose megestrol dogs had clinical signs and microscopic pancreatic, renal, and ocular changes indicative of diabetes mellitus.

  8. Stratospheric sulfate geoengineering enhances terrestrial gross primary productivity

    Science.gov (United States)

    Xia, L.; Robock, A.; Tilmes, S.; Neely, R. R., III

    2015-09-01

    Stratospheric sulfate geoengineering could impact the terrestrial carbon cycle by enhancing the carbon sink. With an 8 Tg yr-1 injection of SO2 to balance a Representative Concentration Pathway 6.0 (RCP6.0) scenario, we conducted climate model simulations with the Community Earth System Model, with the Community Atmospheric Model 4 fully coupled to tropospheric and stratospheric chemistry (CAM4-chem). During the geoengineering period, as compared to RCP6.0, land-averaged downward visible diffuse radiation increased 3.2 W m-2 (11 %). The enhanced diffuse radiation combined with the cooling increased plant photosynthesis by 2.4 %, which could contribute to an additional 3.8 ± 1.1 Gt C yr-1 global gross primary productivity without nutrient limitation. This increase could potentially increase the land carbon sink. Suppressed plant and soil respiration due to the cooling would reduce natural land carbon emission and therefore further enhance the terrestrial carbon sink during the geoengineering period. This beneficial impact of stratospheric sulfate geoengineering would need to be balanced by a large number of potential risks in any future decisions about implementation of geoengineering.

  9. Stratospheric sulfate geoengineering enhances terrestrial gross primary productivity

    Directory of Open Access Journals (Sweden)

    L. Xia

    2015-09-01

    Full Text Available Stratospheric sulfate geoengineering could impact the terrestrial carbon cycle by enhancing the carbon sink. With an 8 Tg yr−1 injection of SO2 to balance a Representative Concentration Pathway 6.0 (RCP6.0 scenario, we conducted climate model simulations with the Community Earth System Model, with the Community Atmospheric Model 4 fully coupled to tropospheric and stratospheric chemistry (CAM4-chem. During the geoengineering period, as compared to RCP6.0, land-averaged downward visible diffuse radiation increased 3.2 W m−2 (11 %. The enhanced diffuse radiation combined with the cooling increased plant photosynthesis by 2.4 %, which could contribute to an additional 3.8 ± 1.1 Gt C yr−1 global gross primary productivity without nutrient limitation. This increase could potentially increase the land carbon sink. Suppressed plant and soil respiration due to the cooling would reduce natural land carbon emission and therefore further enhance the terrestrial carbon sink during the geoengineering period. This beneficial impact of stratospheric sulfate geoengineering would need to be balanced by a large number of potential risks in any future decisions about implementation of geoengineering.

  10. Horava-Lifshitz-like Gross-Neveu model

    Science.gov (United States)

    Lima, A. M.; Mariz, T.; Martinez, R.; Nascimento, J. R.; Petrov, A. Yu.; Ribeiro, R. F.

    2017-03-01

    We describe a Horava-Lifshitz-like reformulated four-fermion Gross-Neveu model describing the dynamics of two-component spinors in (2 +1 )-dimensional space-time. Within our study, we introduce the Lagrange multiplier, study the gap equation (including the finite temperature case) which turns out to display essentially distinct behaviors for even and odd values of the critical exponent z , and show that the dynamical parity breaking occurs only for the odd z . We demonstrate that for any odd z , there exists a critical temperature at which the dynamical parity breaking disappears. Besides of this, we obtain the effective propagator and show that the resulting effective theory is renormalizable within the framework of the 1/N expansion for all values of z . As one more application of the dynamical parity breaking, we consider coupling of the vector field to the fermions in the case of a simplified spinor-vector coupling and discuss the generation of the Chern-Simons term.

  11. Large historical growth in global terrestrial gross primary production

    Science.gov (United States)

    Campbell, J. E.; Berry, J. A.; Seibt, U.; Smith, S. J.; Montzka, S. A.; Launois, T.; Belviso, S.; Bopp, L.; Laine, M.

    2017-04-01

    Growth in terrestrial gross primary production (GPP)—the amount of carbon dioxide that is ‘fixed’ into organic material through the photosynthesis of land plants—may provide a negative feedback for climate change. It remains uncertain, however, to what extent biogeochemical processes can suppress global GPP growth. As a consequence, modelling estimates of terrestrial carbon storage, and of feedbacks between the carbon cycle and climate, remain poorly constrained. Here we present a global, measurement-based estimate of GPP growth during the twentieth century that is based on long-term atmospheric carbonyl sulfide (COS) records, derived from ice-core, firn and ambient air samples. We interpret these records using a model that simulates changes in COS concentration according to changes in its sources and sinks—including a large sink that is related to GPP. We find that the observation-based COS record is most consistent with simulations of climate and the carbon cycle that assume large GPP growth during the twentieth century (31% ± 5% growth; mean ± 95% confidence interval). Although this COS analysis does not directly constrain models of future GPP growth, it does provide a global-scale benchmark for historical carbon-cycle simulations.

  12. Large historical growth in global terrestrial gross primary production

    Energy Technology Data Exchange (ETDEWEB)

    Campbell, J. E.; Berry, J. A.; Seibt, U.; Smith, S. J.; Montzka, S. A.; Launois, T.; Belviso, S.; Bopp, L.; Laine, M.

    2017-04-05

    Growth in terrestrial gross primary production (GPP) may provide a feedback for climate change, but there is still strong disagreement on the extent to which biogeochemical processes may suppress this GPP growth at the ecosystem to continental scales. The consequent uncertainty in modeling of future carbon storage by the terrestrial biosphere constitutes one of the largest unknowns in global climate projections for the next century. Here we provide a global, measurement-based estimate of historical GPP growth using long-term atmospheric carbonyl sulfide (COS) records derived from ice core, firn, and ambient air samples. We interpret these records using a model that relates changes in the COS concentration to changes in its sources and sinks, the largest of which is proportional to GPP. The COS history was most consistent with simulations that assume a large historical GPP growth. Carbon-climate models that assume little to no GPP growth predicted trajectories of COS concentration over the anthropogenic era that differ from those observed. Continued COS monitoring may be useful for detecting ongoing changes in GPP while extending the ice core record to glacial cycles could provide further opportunities to evaluate earth system models.

  13. A boy with fever, cough and gross haematuria.

    Science.gov (United States)

    Cozzi, Giorgio; Maschio, Massimo; Poillucci, Gabriele; Pennesi, Marco; Barbi, Egidio

    2017-08-28

    A 5 year-old boy presented with 2-days of fever and cough. On examination, he had mild dyspnoea and chest pain, with crackles and hypoventilation at the right lung base. Blood tests showed: WBC 39.1×10(9)/L; N 28.9×10(9)/L; Hb 11.3gr/dL; PLT 375×10(9)/L; CRP 28.7mg/dL; ESR 41mm/h. Chest x-ray confirmed a pulmonary consolidation in the right lower lobe (figure 1), with an associated pleural effusion. Bacterial pneumonia was diagnosed and intravenous ceftriaxone 100mg/kg/die was started. The following day, he developed palpebral oedema and his urine became tea coloured. His blood pressure was 126/82mmHg (>99th percentile).(1) Serum creatinine rose from 0.45mg/dl to 1.09mg/dl (39.8µmol/L - 93.4µmol/L) and C3 was 9mg/dl (n.r. 90-180mg/dl). Urinalysis revealed gross hematuria and 3+ proteinuria, with microscopicy showing dysmorphic red blood cells with casts. Ultrasounds showed enlarged kidneys with increased echogenicity. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  14. Peer-Assisted Learning in a Gross Anatomy Dissection Course.

    Science.gov (United States)

    Han, Eui-Ryoung; Chung, Eun-Kyung; Nam, Kwang-Il

    2015-01-01

    Peer-assisted learning encourages students to participate more actively in the dissection process and promotes thoughtful dissection. We implemented peer-assisted dissection in 2012 and compared its effects on students' self-assessments of learning and their academic achievement with those of faculty-led dissection. All subjects performed dissections after a lecture about upper-limb gross anatomy. Experimental group (n = 134) dissected a cadaver while guided by peer tutors who had prepared for the dissection in advance, and control group (n = 71) dissected a cadaver after the introduction by a faculty via prosection. Self-assessment scores regarding the learning objectives related to upper limbs were significantly higher in experimental group than in control group. Additionally, experimental group received significantly higher academic scores than did control group. The students in peer-assisted learning perceived themselves as having a better understanding of course content and achieved better academic results compared with those who participated in faculty-led dissection. Peer-assisted dissection contributed to self-perception and to the ability to retain and explain anatomical knowledge.

  15. Chromosome segregation in plant meiosis

    Science.gov (United States)

    Zamariola, Linda; Tiang, Choon Lin; De Storme, Nico; Pawlowski, Wojtek; Geelen, Danny

    2014-01-01

    Faithful chromosome segregation in meiosis is essential for ploidy stability over sexual life cycles. In plants, defective chromosome segregation caused by gene mutations or other factors leads to the formation of unbalanced or unreduced gametes creating aneuploid or polyploid progeny, respectively. Accurate segregation requires the coordinated execution of conserved processes occurring throughout the two meiotic cell divisions. Synapsis and recombination ensure the establishment of chiasmata that hold homologous chromosomes together allowing their correct segregation in the first meiotic division, which is also tightly regulated by cell-cycle dependent release of cohesin and monopolar attachment of sister kinetochores to microtubules. In meiosis II, bi-orientation of sister kinetochores and proper spindle orientation correctly segregate chromosomes in four haploid cells. Checkpoint mechanisms acting at kinetochores control the accuracy of kinetochore-microtubule attachment, thus ensuring the completion of segregation. Here we review the current knowledge on the processes taking place during chromosome segregation in plant meiosis, focusing on the characterization of the molecular factors involved. PMID:24987397

  16. Chromosome segregation in plant meiosis

    Directory of Open Access Journals (Sweden)

    Linda eZamariola

    2014-06-01

    Full Text Available Faithful chromosome segregation in meiosis is essential for ploidy stability over sexual life cycles. In plants, defective chromosome segregation caused by gene mutations or other factors leads to the formation of unbalanced or unreduced gametes creating aneuploid or polyploid progeny, respectively. Accurate segregation requires the coordinated execution of conserved processes occurring throughout the two meiotic cell divisions. Synapsis and recombination ensure the establishment of chiasmata that hold homologous chromosomes together allowing their correct segregation in the first meiotic division, which is also tightly regulated by cell-cycle dependent release of cohesin and monopolar attachment of sister kinetochores to microtubules. In meiosis II, bi-orientation of sister kinetochores and proper spindle orientation correctly segregate chromosomes in four haploid cells. Checkpoint mechanisms acting at kinetochores control the accuracy of kinetochore-microtubule attachment, thus ensuring the completion of segregation. Here we review the current knowledge on the processes taking place during chromosome segregation in plant meiosis, focusing on the characterization of the molecular factors involved.

  17. Dean flow fractionation of chromosomes

    Science.gov (United States)

    Hockin, Matt; Sant, Himanshu J.; Capecchi, Mario; Gale, Bruce K.

    2016-03-01

    Efforts to transfer intact mammalian chromosomes between cells have been attempted for more than 50 years with the consistent result being transfer of sub unit length pieces regardless of method. Inertial microfluidics is a new field that has shown much promise in addressing the fractionation of particles in the 2-20 μm size range (with unknown limits) and separations are based upon particles being carried by curving confined flows (within a spiral shaped, often rectangular flow chamber) and migrating to stable "equilibrium" positions of varying distance from a chamber wall depending on the balance of dean and lift forces. We fabricated spiral channels for inertial microfluidic separations using a standard soft lithography process. The concentration of chromosomes, small contaminant DNA and large cell debris in each outlets were evaluated using microscope (60X) and a flow cytometer. Using Dean Flow Fractionation, we were able to focus 4.5 times more chromosomes in outlet 2 compared to outlet 4 where most of the large debris is found. We recover 16% of the chromosomes in outlet #1- 50% in 2, 23% in 3 and 11% in 4. It should be noted that these estimates of recovery do not capture one piece of information- it actually may be that the chromosomes at each outlet are physically different and work needs to be done to verify this potential.

  18. Somatic pairing, endomitosis and chromosome aberrations in snakes (Viperidae and Colubridae

    Directory of Open Access Journals (Sweden)

    Beçak Maria Luiza

    2003-01-01

    Full Text Available The positioning of macrochromosomes of Bothrops jararaca and Bothrops insularis (Viperidae was studied in undistorted radial metaphases of uncultured cells (spermatogonia and oogonia not subjected to spindle inhibitors. Colchicinized metaphases from uncultured (spleen and intestine and cultured tissues (blood were also analyzed. We report two antagonic non-random chromosome arrangements in untreated premeiotic cells: the parallel configuration with homologue chromosomes associated side by side in the metaphase plate and the antiparallel configuration having homologue chromosomes with antipolar distribution in the metaphase ring. The antiparallel aspect also appeared in colchicinized cells. The spatial chromosome arrangement in both configurations is groupal size-dependent and maintained through meiosis. We also describe, in untreated gonia cells, endomitosis followed by reductional mitosis which restores the diploid number. In B. jararaca males we observed that some gonad regions present changes in the meiotic mechanism. In this case, endoreduplicated cells segregate the diplochromosomes to opposite poles forming directly endoreduplicated second metaphases of meiosis with the suppression of first meiosis. By a successive division, these cells form nuclei with one set of chromosomes. Chromosome doubling in oogonia is known in hybrid species and in parthenogenetic salamanders and lizards. This species also presented chromosome rearrangements leading to aneuploidies in mitosis and meiosis. It is suggested that somatic pairing, endomitosis, meiotic alterations, and chromosomal aberrations can be correlated processes. Similar aspects of nuclei configurations, endomitosis and reductional mitosis were found in other Viperidae and Colubridae species.

  19. The Reduction of Chromosome Number in Meiosis Is Determined by Properties Built into the Chromosomes

    OpenAIRE

    Paliulis, Leocadia V.; Nicklas, R. Bruce

    2000-01-01

    In meiosis I, two chromatids move to each spindle pole. Then, in meiosis II, the two are distributed, one to each future gamete. This requires that meiosis I chromosomes attach to the spindle differently than meiosis II chromosomes and that they regulate chromosome cohesion differently. We investigated whether the information that dictates the division type of the chromosome comes from the whole cell, the spindle, or the chromosome itself. Also, we determined when chromosomes can switch from ...

  20. HISTOPATHOLOGICAL AND GROSS ANATOMICAL STUDY OF HUMAN PLACENTA IN PATIENTS WITH PREECLAMPSIA

    Directory of Open Access Journals (Sweden)

    Vimla Kumari

    2016-07-01

    Full Text Available BACKGROUND The beginning reason for preeclampsia is the placenta. Preeclampsia starts to lessen with the conveyance of the placenta and can happen without a baby, however, with the nearness of trophoblast tissue with hydatidiform moles. In perspective of this, investigation of the placenta ought to give knowledge into the pathophysiology of preeclampsia. In this presentation, we look at placental pathological and anatomical changes with preeclampsia and Foetal Development Limitation (FGR. No doubt, this examination ought to enlighten as both conditions are associated with comparably unusual placentation yet just in preeclampsia is there a maternal pathophysiological disorder. Comparative bits of knowledge about ahead of schedule and late onset preeclampsia ought to likewise be given by such information. METHODS A prospective study was led in the Department of Obstetrics and Gynaecology, Government Medical College, Bettiah. 250 instances of pregnancy actuated hypertension were concentrated on. The cases with systolic circulatory strain more prominent than 130 mmHg, diastolic pulse more noteworthy than 90 mmHg on two estimations dismantled 6 hours in relationship with histological finding were incorporated into the study. These cases were further separated as mild preeclampsia if the diastolic circulatory strain was ≤100 mmHg and as moderate preeclampsia if the diastolic pulse was 110 mmHg. Extreme cases were characterised if the systolic pulse - ≥160 mmHg, diastolic circulatory strain ≥110 mmHg. Maternal and foetal result was considered and post conveyance placenta was sent for histopathologic examination. Gross anatomical and microscopic examination was done and discoveries were connected with the seriousness of PIH. RESULTS Out of 250 cases, there were 156 instances of mild PIH, 53 moderate and 41 were of severe PIH. On gross examination (Table 1, the mean weight of placenta was 429.9 gm in gentle instances of PIH, 364 gm in moderate

  1. 20 CFR 418.1115 - What are the modified adjusted gross income ranges?

    Science.gov (United States)

    2010-04-01

    ... gross income range amounts by any percentage increase in the Consumer Price Index rounded to the nearest...) of this section. We will use your modified adjusted gross income amount together with your tax filing... from his/her spouse for the entire tax year for the year we use to make our income-related...

  2. Balloon-occluded percutaneous transheptic obliteration of isolated vesical varices causing gross hematuria

    Energy Technology Data Exchange (ETDEWEB)

    Lim, Dong Hoon; Kim, Dong Hyun; Kim, Min Seok; Kim, Chul Sung [Department of Urology, College of Medicine, Chosun University, Gwangju (Korea, Republic of)

    2013-01-15

    Gross hematuria secondary to vesical varices is an unusual presentation. We report such a case recurrent gross hematuria in a male patient who had a history of bladder substitution with ileal segments that had been treated by balloon-occluded percutaneous transhepatic obliteration of vesical varices.

  3. De Gross Motor Function Measure (GMFM): een onderzoek naar de responsiviteit van de Nederlandse vertaling.

    NARCIS (Netherlands)

    Veenhof, C.; Ketelaar, M.; Petegem-van Beek, E. van; Vermeer, A.

    2003-01-01

    This article is about the psychometric characteristics of the Dutch translation of the Gross Motor Function Measure (GMFM). It describes the responsiveness to change. The article "Gross Motor Function Measure (GMFM): a reliability study of the Dutch translation" focuses on the reliability of the GMF

  4. De Gross Motor Function Measure (GMFM): een onderzoek naar de betrouwbaarheid van de Nederlandse vertaling.

    NARCIS (Netherlands)

    Veenhof, C.; Ketelaar, M.; Petegem-van Beek, E. van

    2003-01-01

    This article is about the psychometric characteristics of the Dutch translation of the Gross Motor Function Measure (GMFM). It describes the reliability of the instrument. The article "Gross Motor Function Measure" (GMFM): a validity study of the Dutch translation focusses on the responsiveness of t

  5. Brief Assessment of Motor Function: Content Validity and Reliability of the Upper Extremity Gross Motor Scale

    Science.gov (United States)

    Cintas, Holly Lea; Parks, Rebecca; Don, Sarah; Gerber, Lynn

    2011-01-01

    Content validity and reliability of the Brief Assessment of Motor Function (BAMF) Upper Extremity Gross Motor Scale (UEGMS) were evaluated in this prospective, descriptive study. The UEGMS is one of five BAMF ordinal scales designed for quick documentation of gross, fine, and oral motor skill levels. Designed to be independent of age and…

  6. Fixed Point of Generalized Eventual Cyclic Gross in Fuzzy Norm Spaces for Contractive Mappings

    Directory of Open Access Journals (Sweden)

    S. A. M. Mohsenialhosseini

    2015-01-01

    Full Text Available We define generalized eventual cyclic gross contractive mapping in fuzzy norm spaces, which is a generalization of the eventual cyclic gross contractions. Also we prove the existence of a fixed point for this type of contractive mapping on fuzzy norm spaces.

  7. 46 CFR 129.315 - Power sources for OSVs of 100 or more gross tons.

    Science.gov (United States)

    2010-10-01

    ... 46 Shipping 4 2010-10-01 2010-10-01 false Power sources for OSVs of 100 or more gross tons. 129.315 Section 129.315 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY (CONTINUED) OFFSHORE SUPPLY VESSELS ELECTRICAL INSTALLATIONS Power Sources and Distribution Systems § 129.315 Power sources for OSVs of 100 or more gross tons. (a) The...

  8. Combined climate factors alleviate changes in gross soil nitrogen dynamics in heathlands

    DEFF Research Database (Denmark)

    Bjorsne, Anna-Karin; Rutting, Tobias; Ambus, Per

    2014-01-01

    of exposure to three climate change factors, i.e. warming, elevated CO2 (eCO(2)) and summer drought, applied both in isolation and in combination. By conducting laboratory N-15 tracing experiments we show that warming increased both gross N mineralization and nitrification rates. In contrast, gross...

  9. 26 CFR 1.1332-1 - Inclusion in gross income of war loss recoveries.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 11 2010-04-01 2010-04-01 true Inclusion in gross income of war loss recoveries. 1.1332-1 Section 1.1332-1 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX (CONTINUED) INCOME TAXES War Loss Recoveries § 1.1332-1 Inclusion in gross income of...

  10. Comparison of Gross Anatomy Test Scores Using Traditional Specimens vs. Quicktime Virtual Reality Animated Specimens

    Science.gov (United States)

    Maza, Paul Sadiri

    2010-01-01

    In recent years, technological advances such as computers have been employed in teaching gross anatomy at all levels of education, even in professional schools such as medical and veterinary medical colleges. Benefits of computer based instructional tools for gross anatomy include the convenience of not having to physically view or dissect a…

  11. The Effects of Basketball Basic Skills Training on Gross Motor Skills Development of Female Children

    Science.gov (United States)

    Bayazit, Betul

    2015-01-01

    The purpose of this study was to investigate the effects of basketball basic skills training on gross motor skills development of female children in Turkey. For that purpose, 40 female children took part in the study voluntarily. Basketball basic skills test was used to improve the gross motor skills of the female children in the study. Also,…

  12. The Effects of Basketball Basic Skills Training on Gross Motor Skills Development of Female Children

    Science.gov (United States)

    Bayazit, Betul

    2015-01-01

    The purpose of this study was to investigate the effects of basketball basic skills training on gross motor skills development of female children in Turkey. For that purpose, 40 female children took part in the study voluntarily. Basketball basic skills test was used to improve the gross motor skills of the female children in the study. Also,…

  13. 25 CFR 215.21 - Payment of gross production tax on lead and zinc.

    Science.gov (United States)

    2010-04-01

    ... 25 Indians 1 2010-04-01 2010-04-01 false Payment of gross production tax on lead and zinc. 215.21... ZINC MINING OPERATIONS AND LEASES, QUAPAW AGENCY § 215.21 Payment of gross production tax on lead and zinc. The superintendent of the Quapaw Indian Agency is hereby authorized and directed to pay at...

  14. 26 CFR 1.61-3 - Gross income derived from business.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 2 2010-04-01 2010-04-01 false Gross income derived from business. 1.61-3 Section 1.61-3 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME... Taxable Income § 1.61-3 Gross income derived from business. (a) In general. In a...

  15. 26 CFR 1.804-3 - Gross investment income of a life insurance company.

    Science.gov (United States)

    2010-04-01

    ... law) shall be excluded from the gross investment income of a life insurance company. However, section... company. 1.804-3 Section 1.804-3 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY... insurance company. (a) Gross investment income defined. For purposes of part I, subchapter L, chapter 1 of...

  16. 17 CFR 1.58 - Gross collection of exchange-set margins.

    Science.gov (United States)

    2010-04-01

    ... 17 Commodity and Securities Exchanges 1 2010-04-01 2010-04-01 false Gross collection of exchange-set margins. 1.58 Section 1.58 Commodity and Securities Exchanges COMMODITY FUTURES TRADING COMMISSION GENERAL REGULATIONS UNDER THE COMMODITY EXCHANGE ACT Miscellaneous § 1.58 Gross collection of exchange-set...

  17. Comparison of Gross Anatomy Test Scores Using Traditional Specimens vs. Quicktime Virtual Reality Animated Specimens

    Science.gov (United States)

    Maza, Paul Sadiri

    2010-01-01

    In recent years, technological advances such as computers have been employed in teaching gross anatomy at all levels of education, even in professional schools such as medical and veterinary medical colleges. Benefits of computer based instructional tools for gross anatomy include the convenience of not having to physically view or dissect a…

  18. Gross Motor Development of Malaysian Hearing Impaired Male Pre- and Early School Children

    Science.gov (United States)

    Zawi, Khairi; Lian, Denise Koh Choon; Abdullah, Rozlina Tan

    2014-01-01

    Acquisition of gross motor skill is a natural developmental process for children. This aspect of human development increases with one's chronological age, irrespective of any developmental conditions. The purpose of this study was to assess the level of gross motor skill development among pre- and early school-aged children with motor disability.…

  19. Confirmatory Factor Analysis of the Test of Gross Motor Development-2

    Science.gov (United States)

    Wong, Ka Yee Allison; Cheung, Siu Yin

    2010-01-01

    The purpose of this study was to examine the underlying structure of the second edition of the Test of Gross Motor Development-2 (Ulrich, 2000) as applied to Chinese children. The Test of Gross Motor Development-2 was administered to 626 Hong Kong Chinese children. The outlier test with standard scoring was utilized. After data screening, a total…

  20. Developmental and physical-fitness associations with gross motor coordination problems in Peruvian children.

    Science.gov (United States)

    de Chaves, Raquel Nichele; Bustamante Valdívia, Alcibíades; Nevill, Alan; Freitas, Duarte; Tani, Go; Katzmarzyk, Peter T; Maia, José António Ribeiro

    2016-01-01

    The aims of this cross-sectional study were to examine the developmental characteristics (biological maturation and body size) associated with gross motor coordination problems in 5193 Peruvian children (2787 girls) aged 6-14 years from different geographical locations, and to investigate how the probability that children suffer with gross motor coordination problems varies with physical fitness. Children with gross motor coordination problems were more likely to have lower flexibility and explosive strength levels, having adjusted for age, sex, maturation and study site. Older children were more likely to suffer from gross motor coordination problems, as were those with greater body mass index. However, more mature children were less likely to have gross motor coordination problems, although children who live at sea level or at high altitude were more likely to suffer from gross motor coordination problems than children living in the jungle. Our results provide evidence that children and adolescents with lower physical fitness are more likely to have gross motor coordination difficulties. The identification of youths with gross motor coordination problems and providing them with effective intervention programs is an important priority in order to overcome such developmental problems, and help to improve their general health status.

  1. Oxygen metabolism and reactive oxygen species cause chromosomal rearrangements and cell death

    OpenAIRE

    2007-01-01

    The absence of Tsa1, a key peroxiredoxin that functions to scavenge H2O2 in Saccharomyces cerevisiae, causes the accumulation of a broad spectrum of mutations including gross chromosomal rearrangements (GCRs). Deletion of TSA1 also causes synthetic lethality in combination with mutations in RAD6 and several key genes involved in DNA double-strand break repair. In the present study we investigated the causes of GCRs and cell death in these mutants. tsa1-associated GCRs were independent of the ...

  2. Can Clinical Assessment of Locomotive Body Function Explain Gross Motor Environmental Performance in Cerebral Palsy?

    Science.gov (United States)

    Sanz Mengibar, Jose Manuel; Santonja-Medina, Fernando; Sanchez-de-Muniain, Paloma; Canteras-Jordana, Manuel

    2016-03-01

    Gross Motor Function Classification System has discriminative purposes but does not assess short-term therapy goals. Locomotion Stages (LS) classify postural body functions and independent activity components. Assessing the relation between Gross Motor Function Classification System level and Locomotion Stages will make us understand if clinical assessment can explain and predict motor environmental performance in cerebral palsy. A total of 462 children were assessed with both scales. High reliability and strong negative correlation (-0.908) for Gross Motor Function Classification System and Locomotion Stages at any age was found. Sensitivity was 83%, and specificity and positive predictive value were 100% within the same age range. Regression analysis showed detailed probabilities for the realization of the Gross Motor Function Classification System depending on the Locomotion Stages and the age group. Postural body function measure with Locomotion Stages is reliable, sensitive, and specific for gross motor function and able to predict environmental performance.

  3. The effects of training on gross efficiency in cycling: a review.

    Science.gov (United States)

    Hopker, J; Passfield, L; Coleman, D; Jobson, S; Edwards, L; Carter, H

    2009-12-01

    There has been much debate in the recent scientific literature regarding the possible ability to increase gross efficiency in cycling via training. Using cross-sectional study designs, researchers have demonstrated no significant differences in gross efficiency between trained and untrained cyclists. Reviewing this literature provides evidence to suggest that methodological inadequacies may have played a crucial role in the conclusions drawn from the majority of these studies. We present an overview of these studies and their relative shortcomings and conclude that in well-controlled and rigorously designed studies, training has a positive influence upon gross efficiency. Putative mechanisms for the increase in gross efficiency as a result of training include, muscle fibre type transformation, changes to muscle fibre shortening velocities and changes within the mitochondria. However, the specific mechanisms by which training improves gross efficiency and their impact on cycling performance remain to be determined.

  4. Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

    Science.gov (United States)

    Liehr, Thomas; Karamysheva, Tatyana; Merkas, Martina; Brecevic, Lukrecija; Hamid, Ahmed B.; Ewers, Elisabeth; Mrasek, Kristin; Kosyakova, Nadezda; Weise, Anja

    2010-01-01

    Somatic mosaicism is something that is observed in everyday lives of cytogeneticists. Chromosome instability is one of the leading causes of large-scale genome variation analyzable since the correct human chromosome number was established in 1956. Somatic mosaicism is also a well-known fact to be present in cases with small supernumerary marker chromosomes (sSMC), i.e. karyotypes of 47,+mar/46. In this study, the data available in the literature were collected concerning the frequency mosaicism in different subgroups of patients with sSMC. Of 3124 cases with sSMC 1626 (52%) present with somatic mosaicism. Some groups like patients with Emanuel-, cat-eye- or i(18p)- syndrome only tend rarely to develop mosaicism, while in Pallister-Killian syndrome every patient is mosaic. In general, acrocentric and non-acrocentric derived sSMCs are differently susceptible to mosaicism; non-acrocentric derived ones are hereby the less stable ones. Even though, in the overwhelming majority of the cases, somatic mosaicism does not have any detectable clinical effects, there are rare cases with altered clinical outcomes due to mosaicism. This is extremely important for prenatal genetic counseling. Overall, as mosaicism is something to be considered in at least every second sSMC case, array-CGH studies cannot be offered as a screening test to reliably detect this kind of chromosomal aberration, as low level mosaic cases and cryptic mosaics are missed by that. PMID:21358988

  5. A Case of Autism with Ring Chromosome 14.

    Directory of Open Access Journals (Sweden)

    Massoumeh Tajeran

    2013-11-01

    Full Text Available Autism is a complex neuropsychiatric disorder that manifests in early childhood. Although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. The main objective of the present study was to verify the value of karyotyping in autistic children and identifying association between chromosome abnormalities and autism.We examined the peripheral blood lymphocytes cell culture for cytogenetic alterations by GTG-banding technique. The investigation was carried out on 50 autistic patients referred by Pediatric neurologist to Cytogenetic Laboratory in Khorasan-e-razavi Province, Iran.Using GTG-banding technique, the chromosome analysis of patients identified an unbalanced male karyotype with a r (14 in all 50 metaphaseswere examined.Since structural abnormalities may have a critical role in the etiology of autism, according to the region where is affected and number of related genes, therefore an outcome with wide spectrum of clinical manifestations could be expected. Furthermore by considering of recent study, the results indicated that there is an association between chromosome 14 with brain development and neurological disorders, but, in conclusion, it could not be suggested that in order to postulate cytogenetic testing in idiopathic autism patients, specifically screening for chromosome 14 which might has diagnostic value.

  6. Effect of therapeutic hypothermia on chromosomal aberration in perinatal asphyxia

    Directory of Open Access Journals (Sweden)

    Bahubali D Gane

    2016-01-01

    Full Text Available Introduction: Perinatal asphyxia is a major cause for neonatal mortality and morbidity around the world. The reduction of O2results in the generation of reactive oxygen species which interact with nucleic acid and make alteration in the structure and functioning of the genome. We studied the effect of therapeutic hypothermia on chromosomes with karyotyping. Subjects and Methods: Babies in the hypothermia group were cooled for the first 72 h, using gel packs. Rectal temperature of 33–34°C was maintained. Blood sample was collected after completion of therapeutic hypothermia for Chromosomal analysis. It was done with IKAROS Karyotyping system, Metasystems, based on recommendations of International system of human cytogenetic nomenclature. Results: The median chromosomal aberration was lower in hypothermia [2(0-5] than control group [4(1-7] and chromatid breakage was commonest aberration seen. Chromosomal aberration was significantly higher in severe encephalopathy group than moderate encephalopathy group. Conclusion: We conclude that the TH significantly reduces DNA damage in perinatal asphyxia.

  7. Molecular cytogenetic analysis of dicentric chromosomes in acute myeloid leukemia.

    Science.gov (United States)

    Sarova, Iveta; Brezinova, Jana; Zemanova, Zuzana; Ransdorfova, Sarka; Izakova, Silvia; Svobodova, Karla; Pavlistova, Lenka; Berkova, Adela; Cermak, Jaroslav; Jonasova, Anna; Siskova, Magda; Michalova, Kyra

    2016-04-01

    Dicentric chromosomes (DCs) have been described in many hematological diseases, including acute myeloid leukemia (AML). They are markers of cancer and induce chromosomal instability, leading to the formation of other chromosomal aberrations and the clonal evolution of pathological cells. Our knowledge of the roles and behavior of human DCs is often derived from studies of induced DCs and cell lines. It is difficult to identify all the DCs in the karyotypes of patients because of the limitations of metaphase cytogenetic methods. The aim of this study was to revise the karyotypes of 20 AML patients in whom DCs were found with conventional G-banding or multicolor fluorescence in situ hybridization (mFISH) with (multi)centromeric probes and to characterize the DCs at the molecular cytogenetic level. FISH analyses confirmed 23 of the 29 expected DCs in 18 of 20 patients and identified 13 others that had not been detected cytogenetically. Fourteen DCs were altered by other chromosomal changes. In conclusion, karyotypes with DCs are usually very complex, and we have shown that they often contain more than one DC, which can be missed with conventional or mFISH methods. Our study indicates an association between number of DCs in karyotype and very short survival of patients.

  8. New insights into human nondisjunction of chromosome 21 in oocytes.

    Directory of Open Access Journals (Sweden)

    Tiffany Renee Oliver

    2008-03-01

    Full Text Available Nondisjunction of chromosome 21 is the leading cause of Down syndrome. Two risk factors for maternal nondisjunction of chromosome 21 are increased maternal age and altered recombination. In order to provide further insight on mechanisms underlying nondisjunction, we examined the association between these two well established risk factors for chromosome 21 nondisjunction. In our approach, short tandem repeat markers along chromosome 21 were genotyped in DNA collected from individuals with free trisomy 21 and their parents. This information was used to determine the origin of the nondisjunction error and the maternal recombination profile. We analyzed 615 maternal meiosis I and 253 maternal meiosis II cases stratified by maternal age. The examination of meiosis II errors, the first of its type, suggests that the presence of a single exchange within the pericentromeric region of 21q interacts with maternal age-related risk factors. This observation could be explained in two general ways: 1 a pericentromeric exchange initiates or exacerbates the susceptibility to maternal age risk factors or 2 a pericentromeric exchange protects the bivalent against age-related risk factors allowing proper segregation of homologues at meiosis I, but not segregation of sisters at meiosis II. In contrast, analysis of maternal meiosis I errors indicates that a single telomeric exchange imposes the same risk for nondisjunction, irrespective of the age of the oocyte. Our results emphasize the fact that human nondisjunction is a multifactorial trait that must be dissected into its component parts to identify specific associated risk factors.

  9. Phenotypic correlations in a patient with ring chromosome 22

    Directory of Open Access Journals (Sweden)

    Demirhan Osman

    2010-01-01

    Full Text Available Ring chromosome 22, a rare cytogenetic anomaly, has been described in over 60 cases in the medical literature. The aim of this report was to present a case carrying ring chromosome 22, and her family. It is a case report of a patient presented at Medical Faculty of Ηukurova University in Turkey. An 8-year-old girl with ring chromosome 22 and her family were evaluated cytogenetically and clinically. A chromosome analysis of the proband revealed a de novo 46,XX,r(22(p11.2;q13 karyotype. Our subject demonstrated the prominent features of this syndrome including profound mental retardation, language impairment, dysmorphic features, lack of speech, hyperactivity, and behavioral disorders. There is lack of consistency between the physical abnormalities that we observed in our subject and those observed for such patients in the literature. The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region.

  10. Gross Nitrogen Mineralization in Surface Sediments of the Yangtze Estuary.

    Science.gov (United States)

    Lin, Xianbiao; Hou, Lijun; Liu, Min; Li, Xiaofei; Yin, Guoyu; Zheng, Yanling; Deng, Fengyu

    2016-01-01

    Nitrogen mineralization is a key biogeochemical process transforming organic nitrogen to inorganic nitrogen in estuarine and coastal sediments. Although sedimentary nitrogen mineralization is an important internal driver for aquatic eutrophication, few studies have investigated sedimentary nitrogen mineralization in these environments. Sediment-slurry incubation experiments combined with 15N isotope dilution technique were conducted to quantify the potential rates of nitrogen mineralization in surface sediments of the Yangtze Estuary. The gross nitrogen mineralization (GNM) rates ranged from 0.02 to 5.13 mg N kg(-1) d(-1) in surface sediments of the study area. The GNM rates were generally higher in summer than in winter, and the relative high rates were detected mainly at sites near the north branch and frontal edge of this estuary. The spatial and temporal distributions of GNM rates were observed to depend largely on temperature, salinity, sedimentary organic carbon and nitrogen contents, and extracellular enzyme (urease and L-glutaminase) activities. The total mineralized nitrogen in the sediments of the Yangtze Estuary was estimated to be about 6.17 × 10(5) t N yr(-1), and approximately 37% of it was retained in the estuary. Assuming the retained mineralized nitrogen is totally released from the sediments into the water column, which contributed 12-15% of total dissolved inorganic nitrogen (DIN) sources in this study area. This result indicated that the mineralization process is a significant internal nitrogen source for the overlying water of the Yangtze Estuary, and thus may contribute to the estuarine and coastal eutrophication.

  11. Gross Nitrogen Mineralization in Surface Sediments of the Yangtze Estuary.

    Directory of Open Access Journals (Sweden)

    Xianbiao Lin

    Full Text Available Nitrogen mineralization is a key biogeochemical process transforming organic nitrogen to inorganic nitrogen in estuarine and coastal sediments. Although sedimentary nitrogen mineralization is an important internal driver for aquatic eutrophication, few studies have investigated sedimentary nitrogen mineralization in these environments. Sediment-slurry incubation experiments combined with 15N isotope dilution technique were conducted to quantify the potential rates of nitrogen mineralization in surface sediments of the Yangtze Estuary. The gross nitrogen mineralization (GNM rates ranged from 0.02 to 5.13 mg N kg(-1 d(-1 in surface sediments of the study area. The GNM rates were generally higher in summer than in winter, and the relative high rates were detected mainly at sites near the north branch and frontal edge of this estuary. The spatial and temporal distributions of GNM rates were observed to depend largely on temperature, salinity, sedimentary organic carbon and nitrogen contents, and extracellular enzyme (urease and L-glutaminase activities. The total mineralized nitrogen in the sediments of the Yangtze Estuary was estimated to be about 6.17 × 10(5 t N yr(-1, and approximately 37% of it was retained in the estuary. Assuming the retained mineralized nitrogen is totally released from the sediments into the water column, which contributed 12-15% of total dissolved inorganic nitrogen (DIN sources in this study area. This result indicated that the mineralization process is a significant internal nitrogen source for the overlying water of the Yangtze Estuary, and thus may contribute to the estuarine and coastal eutrophication.

  12. GROSS ANATOMY AND BLOOD SUPPLY OF SMALL INTESTINE IN FOETUSES

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    Anwer Unisa

    2015-06-01

    Full Text Available AIM OF STUDY: To develop charts of length and width of small intestine, origin, length and branching pattern of celiac trunk and Superior mesenteric artery. This will help us to know any congenital anomaly in the small intestine, and abnormal origin, length, variation i n the branching pattern. MATERIALS AND METHOD S: The material used for the present study of 100 foetuses of different stages of gestation collected from Government maternity Hospital, Hanamkonda, ChandaKantha Memorial Hospital Warangal and private nursing h omes of Warangal D istrict of Andhra Pradesh within 10 hours of death. The dead foetuses were preserved in the hospital in 10% formalin. The foetuses were embalmed by injecting with 20 cc to 100 cc 10% formalin in to the cranial cavity and trunk depending o n the stage of gestation. Foetuses were dissected to expose small intestine and the blood vessels which supply it systematically in the following manner. OBSERVATIONS: The present study conducted has shown that length, width of small intestine was found to be increasing with foetal age. The length of celiac trunk, the length of superior mesenteric artery was found to increase proportionality with the foetal age. The causes of death in foetuses related to small intestine are intussusceptions intestional malr otation such as ladd’s bands, volvulus, cystic fibrosis, intestional infections and necrotizing enterocolitis. Knowledge related to gross anatomy and blood supply of small intestine is important because of these causes which may lead to death in foetus e s. In the present study no anomalies related to small intestine are found.

  13. Gross and Histomorphological Studies of Femoral Head Resurfacing in Dog

    Directory of Open Access Journals (Sweden)

    D. Sharifi

    2006-01-01

    Full Text Available The foetal skull bone as a biological graft was investigated. This study was conducted on Fifteen adult mixed - breed normal dogs 12 to 24 months with weighing 21.4=3.6 Kg .Dogs were randomly divided into 3 groups of 5 animals each. The foetal skull bone of 45 days old was collected from one pregnant bitch via cesarean method. The right femoral head cartilage was removed completely in all dogs of 3 groups.. Group I acted as control one, whereas in II group, resurfacing was done by using foetal skull bone which was fixed by using 0.8 mm cerclage wire in criss-cross fashion, but in III group, it was done similar to II group and the hip joint additionally was fixed by using 2 mm steinmenn pin.The clinical observations was made accordingly for 60 days in all groups. The gross changes of femoral head in group I & II were quite smooth and slippy, but in III group were uneven and rough due to secondary changes and ankylosis, but on micropscopic interpertation there was a remarkable compatibility of the graft with femoral head.The reconstruction of articular cartilage was faster in group II and even group III animals than group I animals. There was single row of chondrocyte in scatter area of samples in group . The complete and uniform hyaline cartilage in group II and fibro - cartilage and mixture of connective tissues in group III animals were observed. The results indicated that the foetal skull bone due to its pleuripotent calvarium easily can orient itself into the chondrocytes and cartilagenous tissues in articular surface of the hip joint, if there is suitable enviroment before complete ossification,so that normal joint motion could expect.

  14. Chromosome-specific families in Vibrio genomes

    Directory of Open Access Journals (Sweden)

    Oksana eLukjancenko

    2014-03-01

    Full Text Available We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished chromosomes, we find a core set of 1269 encoded protein families for chromosome 1, and a core of 252 encoded protein families for chromosome 2. Many of these core proteins are also found in the draft genomes (although which chromosome they are located on is unknown. Of the chromosome specific core protein families, 1169 and 153 are uniquely found in chromosomes 1 and 2, respectively. Gene ontology (GO terms for each of the protein families were determined, and the different sets for each chromosome were compared. A total of 363 different `Molecular Function` GO categories were found for chromosome 1 specific protein families, and these include several broad activities: pyridoxine 5' phosphate synthetase, glucosylceramidase, heme transport, DNA ligase, amino acid binding, and ribosomal components; in contrast, chromosome 2 specific protein families have only 66 Molecular Function GO terms and include many membrane-associated activities, such as ion channels, transmembrane transporters, and electron transport chain proteins. Thus, it appears that whilst there are many 'housekeeping systems' encoded in chromosome 1, there are far fewer core functions found in chromosome 2. However, the presence of many membrane-associated encoded proteins in chromosome 2 is surprising.

  15. Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment

    Directory of Open Access Journals (Sweden)

    Kim You

    2010-11-01

    .092-2.141. Conclusions There is no increased risk of chromosomal abnormalities due to ART was found with the exception of a greater number of sex chromosomal abnormalities in the ICSI group with male factor infertility. Therefore, these alterations could be correlated with the underlying parental risk of abnormalities and not with the ICSI procedure itself.

  16. Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment.

    Science.gov (United States)

    Kim, Ji Won; Lee, Woo Sik; Yoon, Tae Ki; Seok, Hyun Ha; Cho, Jung Hyun; Kim, You Shin; Lyu, Sang Woo; Shim, Sung Han

    2010-11-03

    chromosomal abnormalities due to ART was found with the exception of a greater number of sex chromosomal abnormalities in the ICSI group with male factor infertility. Therefore, these alterations could be correlated with the underlying parental risk of abnormalities and not with the ICSI procedure itself.

  17. Mechanical continuity and reversible chromosome disassembly within intact genomes removed from living cells

    Science.gov (United States)

    Maniotis, A. J.; Bojanowski, K.; Ingber, D. E.

    1997-01-01

    Chromatin is thought to be structurally discontinuous because it is packaged into morphologically distinct chromosomes that appear physically isolated from one another in metaphase preparations used for cytogenetic studies. However, analysis of chromosome positioning and movement suggest that different chromosomes often behave as if they were physically connected in interphase as well as mitosis. To address this paradox directly, we used a microsurgical technique to physically remove nucleoplasm or chromosomes from living cells under isotonic conditions. Using this approach, we found that pulling a single nucleolus or chromosome out from interphase or mitotic cells resulted in sequential removal of the remaining nucleoli and chromosomes, interconnected by a continuous elastic thread. Enzymatic treatments of interphase nucleoplasm and chromosome chains held under tension revealed that mechanical continuity within the chromatin was mediated by elements sensitive to DNase or micrococcal nuclease, but not RNases, formamide at high temperature, or proteases. In contrast, mechanical coupling between mitotic chromosomes and the surrounding cytoplasm appeared to be mediated by gelsolin-sensitive microfilaments. Furthermore, when ion concentrations were raised and lowered, both the chromosomes and the interconnecting strands underwent multiple rounds of decondensation and recondensation. As a result of these dynamic structural alterations, the mitotic chains also became sensitive to disruption by restriction enzymes. Ion-induced chromosome decondensation could be blocked by treatment with DNA binding dyes, agents that reduce protein disulfide linkages within nuclear matrix, or an antibody directed against histones. Fully decondensed chromatin strands also could be induced to recondense into chromosomes with pre-existing size, shape, number, and position by adding anti-histone antibodies. Conversely, removal of histones by proteolysis or heparin treatment produced chromosome

  18. Chromosome synteny in cucumis species

    Science.gov (United States)

    Cucumber, Cucumis sativus L. (2n = 2x = 14) and melon, C. melo L. (2n = 2x = 24) are two important vegetable species in the genus Cucumis (family Cucurbitaceae). Two inter-fertile botanical varieties with 14 chromosomes, the cultivated C. sativus var. sativus L. and the wild C. sativus var. hardwick...

  19. Chromosome Territory Modeller and Viewer.

    Science.gov (United States)

    Tkacz, Magdalena A; Chromiński, Kornel; Idziak-Helmcke, Dominika; Robaszkiewicz, Ewa; Hasterok, Robert

    2016-01-01

    This paper presents ChroTeMo, a tool for chromosome territory modelling, accompanied by ChroTeVi-a chromosome territory visualisation software that uses the data obtained by ChroTeMo. These tools have been developed in order to complement the molecular cytogenetic research of interphase nucleus structure in a model grass Brachypodium distachyon. Although the modelling tool has been initially created for one particular species, it has universal application. The proposed version of ChroTeMo allows for generating a model of chromosome territory distribution in any given plant or animal species after setting the initial, species-specific parameters. ChroTeMo has been developed as a fully probabilistic modeller. Due to this feature, the comparison between the experimental data on the structure of a nucleus and the results obtained from ChroTeMo can indicate whether the distribution of chromosomes inside a nucleus is also fully probabilistic or is subjected to certain non-random patterns. The presented tools have been written in Python, so they are multiplatform, portable and easy to read. Moreover, if necessary they can be further developed by users writing their portions of code. The source code, documentation, and wiki, as well as the issue tracker and the list of related articles that use ChroTeMo and ChroTeVi, are accessible in a public repository at Github under GPL 3.0 license.

  20. Chromosomal disorders and male infertility

    Institute of Scientific and Technical Information of China (English)

    Gary L Harton; Helen G Tempest

    2012-01-01

    infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family.Despite this,the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.Nevertheless,more and more genetic factors associated with infertility are being identified.This review will focus on our current understanding of the chromosomal basis of male infertility specifically:chromosomal aneuploidy,structural and numerical karyotype abnormalities and Y chromosomal microdeletions.Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans.Aneuploidy is predominantly maternal in origin,but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts.Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm.Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed,as well as the application of preimplantation genetic diagnosis (PGD) in such cases.Clinical recommendations where possible will be made,as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

  1. Chromosome 5 and Parkinson disease.

    Science.gov (United States)

    Foroud, Tatiana; Pankratz, Nathan; Martinez, Maria

    2006-10-01

    Parkinson disease (PD) is the second most common neurodegenerative disorder. Despite the identification of five causative genes, the majority of PD etiology is still unknown. A region on chromosome 5q is one of the few regions of the genome found linked in multiple studies of familial PD. Analyses were performed using genotypic data from two independent research studies to evaluate rigorously the evidence of linkage on chromosome 5. The combined sample consisting of 1238 affected individuals from 569 multiplex PD families were genotyped for a common set of 20 microsatellite markers spanning an 80 cM region on chromosome 5q. Two disease models were employed and model-free linkage analyses were performed to detect linkage to a PD susceptibility gene and also to detect linkage to a quantitative phenotype, age of onset of PD. There was little evidence of linkage using either a narrower or broader disease definition (lod <0.5). Analyses employing age of onset of PD as the phenotype produced a lod score of 1.8. These results in a very large sample of familial PD suggest that it is unlikely that a PD susceptibility gene is located on chromosome 5q. Evidence for a locus contributing to the age of onset of PD is modest at best (empirical P-value=0.07).

  2. CHROMOSOMAL MULTIPLICITY IN BURKHOLDERIA CEPACIA

    Science.gov (United States)

    We have used CHEF gel electrophoresis to screen preparations of large DNA from different Burkholderia cepacia isolates for the presence of DNA species corresponding to the linearized forms of the three chromosomes of 3.4,2.5, and 0.9 Mb identified in B. cepacia strain 17616. DNA ...

  3. Chromosomal disorders and male infertility.

    Science.gov (United States)

    Harton, Gary L; Tempest, Helen G

    2012-01-01

    Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosomal basis of male infertility specifically: chromosomal aneuploidy, structural and numerical karyotype abnormalities and Y chromosomal microdeletions. Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans. Aneuploidy is predominantly maternal in origin, but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts. Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm. Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed, as well as the application of preimplantation genetic diagnosis (PGD) in such cases. Clinical recommendations where possible will be made, as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

  4. Association of recurrent pregnancy loss with chromosomal ...

    African Journals Online (AJOL)

    EB

    Results: Parental chromosomal abnormality was detected in 28 cases (2.8% of all cases, 5.7% of the couples) most of which ... Key words: chromosomal abnormality, recurrent pregnancy loss, thrombophilia ..... significant role in infertility.

  5. Molecular genetic approach to human meningioma: loss of genes on chromosome 22

    Energy Technology Data Exchange (ETDEWEB)

    Seizinger, B.R.; De La Monte, S.; Atkins, L.; Gusella, J.F.; Martuza, R.L.

    1987-08-01

    A molecular genetic approach employing polymorphic DNA markers has been used to investigate the role of chromosomal aberrations in meningioma, one of the most common tumors of the human nervous system. Comparison of the alleles detected by DNA markers in tumor DNA versus DNA from normal tissue revealed chromosomal alterations present in primary surgical specimens. In agreement with cytogenetic studies of cultured meningiomas, the most frequent alteration detected was loss of heterozygosity on chromosome 22. Forty of 51 patients were constitutionally heterozygous for at least one chromosome 22 DNA marker. Seventeen of the 40 constitutionally heterozygotic patients (43%) displayed hemizygosity for the corresponding marker in their meningioma tumor tissues. Loss of heterozygosity was also detected at a significantly lower frequency for markers on several other autosomes. In view of the striking association between acoustic neuroma and meningioma in bilateral acoustic neurofibromatosis and the discovery that acoustic neuromas display specific loss of genes on chromosome 22, the authors propose that a common mechanism involving chromosome 22 is operative in the development of both tumor types. Fine-structure mapping to reveal partial deletions in meningiomas may provide the means to clone and characterize a gene (or genes) of importance for tumorigenesis in this and possibly other clinically associated tumors of the human nervous system.

  6. Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography.

    Science.gov (United States)

    Bellucco, Fernanda Teixeira da Silva; Belangero, Sintia Iole Nogueira; Farah, Leila Montenegro Silveira; Machado, Maria Virgínia Lima; Cruz, Adriano Pastor; Lopes, Lílian Maria; Lopes, Marco Antonio Borges; Zugaib, Marcelo; Cernach, Mirlene Cecília; Melaragno, Maria Isabel

    2010-11-01

    Congenital heart disease (CHD) is the most common birth defect and the leading cause of mortality in the first year of life. In fetuses with a heart defect, chromosomal abnormalities are very frequent. Besides aneuploidy, 22q11.2 deletion is one of the most recognizable chromosomal abnormalities causing CHD. The frequency of this abnormality varies in nonselected populations. This study aimed to investigate the incidence of the 22q11.2 deletion and other chromosomal alterations in a Brazilian sample of fetuses with structural cardiac anomalies detected by fetal echocardiography. In a prospective study, 68 fetuses with a heart defect were evaluated. Prenatal detection of cardiac abnormalities led to identification of aneuploidy or structural chromosomal anomaly in 35.3% of these cases. None of the fetuses with apparently normal karyotypes had a 22q11.2 deletion. The heart defects most frequently associated with chromosomal abnormalities were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), and tetralogy of Fallot. Autosomal trisomies 18 and 21 were the most common chromosomal abnormalities. The study results support the strong association of chromosome alterations and cardiac malformation, especially in AVSD and VSD, for which a chromosome investigation is indicated. In fetuses with an isolated conotruncal cardiopathy, fluorescence in situ hybridization (FISH) to investigate a 22q11.2 deletion is not indicated.

  7. Paternal uniparental isodisomy for human chromosome 20 and absence of external ears

    Energy Technology Data Exchange (ETDEWEB)

    Spinner, N.B.; Rand, E.; McDonald-McGinn, D.M. [Childrens Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    Uniparental disomy can cause disease if the involved chromosomal region contains imprinted genes. Uniparental disomy for portions of human chromosomes 6, 7, 9, 11, 14 and 15 have been associated with abnormal phenotypes. We studied a patient with multiple abnormalities including an absent left ear with a small right ear remnant, microcephaly, congenital heart disease and Hirschprung`s disease. Cytogenetics revealed a 45,XY,-20,-20,+ter rea(20;20)(p13;p13) in 10/10 cells from bone marrow and 20/20 cells from peripheral blood. Analysis of a skin culture revealed a second cell line with trisomy 20 resulting from an apparently normal chromosome 20 in addition to the terminally rearranged chromosome, in 8/100 cells studied. The unusual phenotype of our patient was not consistent with previously reported cases of deletions of 20p or mosaic trisomy 20. We hypothesized that the patient`s phenotype could either result from deletion of both copies of a gene near the p arm terminus of chromosome 20 or from uniparental disomy of chromosome 20. There were no alterations or rearrangements of PTP-alpha (which maps to distal 20p) by Southern or Northern blot analysis. A chromosome 20 sub-telomeric probe was found to be present on the rearranged 20 by FISH suggesting that subtelomeric sequences have not been lost as a consequece of this rearrangement. To determine the parental origin of the 2 chromosome 20`s in the terminal rearrangement, we studied the genotypes of the proband and his parents in lymphoblastoid cell lines at 8 polymorphic loci. Genotypes at D20S115, D20S186, and D20S119 indicated that there was paternal isodisomy. Other loci were uninformative. This is the first example of uniparental disomy for chromosome 20. Further studies are warranted to correlate phenotype with uniparental inheritance of this chromosome.

  8. Studies of Tumor Suppressor Genes via Chromosome Engineering

    Directory of Open Access Journals (Sweden)

    Hiroyuki Kugoh

    2015-12-01

    Full Text Available The development and progression of malignant tumors likely result from consecutive accumulation of genetic alterations, including dysfunctional tumor suppressor genes. However, the signaling mechanisms that underlie the development of tumors have not yet been completely elucidated. Discovery of novel tumor-related genes plays a crucial role in our understanding of the development and progression of malignant tumors. Chromosome engineering technology based on microcell-mediated chromosome transfer (MMCT is an effective approach for identification of tumor suppressor genes. The studies have revealed at least five tumor suppression effects. The discovery of novel tumor suppressor genes provide greater understanding of the complex signaling pathways that underlie the development and progression of malignant tumors. These advances are being exploited to develop targeted drugs and new biological therapies for cancer.

  9. Studies of Tumor Suppressor Genes via Chromosome Engineering.

    Science.gov (United States)

    Kugoh, Hiroyuki; Ohira, Takahito; Oshimura, Mitsuo

    2015-12-30

    The development and progression of malignant tumors likely result from consecutive accumulation of genetic alterations, including dysfunctional tumor suppressor genes. However, the signaling mechanisms that underlie the development of tumors have not yet been completely elucidated. Discovery of novel tumor-related genes plays a crucial role in our understanding of the development and progression of malignant tumors. Chromosome engineering technology based on microcell-mediated chromosome transfer (MMCT) is an effective approach for identification of tumor suppressor genes. The studies have revealed at least five tumor suppression effects. The discovery of novel tumor suppressor genes provide greater understanding of the complex signaling pathways that underlie the development and progression of malignant tumors. These advances are being exploited to develop targeted drugs and new biological therapies for cancer.

  10. Drosophila SAF-B links the nuclear matrix, chromosomes, and transcriptional activity.

    Directory of Open Access Journals (Sweden)

    Catalina Alfonso-Parra

    Full Text Available Induction of gene expression is correlated with alterations in nuclear organization, including proximity to other active genes, to the nuclear cortex, and to cytologically distinct domains of the nucleus. Chromosomes are tethered to the insoluble nuclear scaffold/matrix through interaction with Scaffold/Matrix Attachment Region (SAR/MAR binding proteins. Identification and characterization of proteins involved in establishing or maintaining chromosome-scaffold interactions is necessary to understand how the nucleus is organized and how dynamic changes in attachment are correlated with alterations in gene expression. We identified and characterized one such scaffold attachment factor, a Drosophila homolog of mammalian SAF-B. The large nuclei and chromosomes of Drosophila have allowed us to show that SAF-B inhabits distinct subnuclear compartments, forms weblike continua in nuclei of salivary glands, and interacts with discrete chromosomal loci in interphase nuclei. These interactions appear mediated either by DNA-protein interactions, or through RNA-protein interactions that can be altered during changes in gene expression programs. Extraction of soluble nuclear proteins and DNA leaves SAF-B intact, showing that this scaffold/matrix-attachment protein is a durable component of the nuclear matrix. Together, we have shown that SAF-B links the nuclear scaffold, chromosomes, and transcriptional activity.

  11. Chromosome protein framework from proteome analysis of isolated human metaphase chromosomes.

    Science.gov (United States)

    Fukui, Kiichi; Uchiyama, Susumu

    2007-01-01

    We have presented a structural model of the chromosome based on its constituent proteins. Development of a method of mass isolation for intact human metaphase chromosomes and proteome analysis by mass spectrometry of the isolated chromosomal proteins enabled us to develop a four-layer structural model of human metaphase chromosomes. The model consists of four layers, each with different chromosomal protein sets, i.e., chromosome coating proteins (CCPs), chromosome peripheral proteins (CPPs), chromosome structural proteins (CSPs), and chromosome fibrous proteins (CFPs). More than 200 identified proteins have been classified and assigned to the four layers with each layer occupying a distinct region of the chromosome. CCPs are localized at the most outer regions of the chromosomes and they attach to the regions tentatively and occasionally. CCPs include mostly mitochondrial and cytoplasmic proteins, e.g., 70 kDa heat shock protein 9B and Hsp60. CPPs are also localized at the peripheral regions of the chromosomes, but as the essential part of the chromosomes. CPPs include nucleolin, lamin A/C, fibrillarin, etc. CSPs are the primary chromosomal structure proteins, and include topoisomerase IIalpha, condensin subunits, histones, etc. CFPs have a fibrous nature, e.g., beta-actin, vimentin, myosin II, tublin, etc. A data set of these proteins, which we developed, contains essential chromosome proteins with classified information based on this four-layer model and presents useful leads for further studies on chromosomal structure and function.

  12. Familial transmission of a ring chromosome 21

    DEFF Research Database (Denmark)

    Hertz, Jens Michael

    1987-01-01

    A ring chromosome 21 was found in a phenotypically normal mother and her son. The clinical findings in the son were bilateral retention of the testes and a slightly delayed puberty onset. Consequences of a ring formation of a chromosome 21 in phenotypically normal patients are presented...... and discussed, and the previously reported cases of familially transmitted G-group ring chromosomes are reviewed....

  13. Female meiotic sex chromosome inactivation in chicken

    NARCIS (Netherlands)

    S. Schoenmakers (Sam); E. Wassenaar (Evelyne); J.W. Hoogerbrugge (Jos); J.S.E. Laven (Joop); J.A. Grootegoed (Anton); W.M. Baarends (Willy)

    2009-01-01

    textabstractDuring meiotic prophase in male mammals, the heterologous X and Y chromosomes remain largely unsynapsed, and meiotic sex chromosome inactivation (MSCI) leads to formation of the transcriptionally silenced XY body. In birds, the heterogametic sex is female, carrying Z and W chromosomes (Z

  14. A Plain English Map of the Human Chromosomes.

    Science.gov (United States)

    Offner, Susan

    1992-01-01

    Presents a chromosome map for 19 known chromosomes in human genetics. Describes the characteristics attributed to the genetic codes for each of the chromosomes and discusses the teaching applications of the chromosome map. (MDH)

  15. Chromosomal and Genetic Analysis of a Human Lung Adenocarcinoma Cell Line OM

    Institute of Scientific and Technical Information of China (English)

    Yong-Wu Li; Lin Bai; Lyu-Xia Dai; Xu He; Xian-Ping Zhou

    2016-01-01

    Background: Lung cancer has become the leading cause of death in many regions.Carcinogenesis is caused by the stepwise accumulation of genetic and chromosomal changes.The aim of this study was to investigate the chromosome and gene alterations in the human lung adenocarcinoma cell line OM.Methods: We used Giemsa banding and multiplex fluorescence in situ hybridization focusing on the human lung adenocarcinoma cell line OM to analyze its chromosome alterations.In addition, the gains and losses in the specific chromosome regions were identified by comparative genomic hybridization (CGH) and the amplifications of cancer-related genes were also detected by polymerase chain reaction (PCR).Results: We identified a large number of chromosomal numerical alterations on all chromosomes except chromosome X and 19.Chromosome 10 is the most frequently involved in translocations with six different interchromosomal translocations.CGH revealed the gains on chromosome regions of 3q25.3-28, 5p13, 12q22-23.24, and the losses on 3p25-26, 6p25, 6q26-27, 7q34-36, 8p22-23, 9p21-24, 10q25-26.3, 12p 13.31-13.33 and 17p 13.1-13.3.And PCR showed the amplification of genes: Membrane metalloendopeptidase (MME), sucrase-isomaltase (SI), butyrylcholinesterase (BCHE), and kininogen (KNG).Conclusions: The lung adenocarcinoma cell line OM exhibited multiple complex karyotypes, and chromosome 10 was frequently involved in chromosomal translocation, which may play key roles in tumorigenesis.We speculated that the oncogenes may be located at 3q25.3-28, 5p13, 12q22-23.24, while tumor suppressor genes may exist in 3p25-26, 6p25, 6q26-27, 7q34-36, 8p22-23, 9p21-24, 10q25-26.3, 12p 13.31-13.33, and 17p 13.1-13.3.Moreover, at least four genes (MME, SI, BCHE, and KNG) may be involved in the human lung adenocarcinoma cell line OM.

  16. Tumor microenvironmental genomic alterations in juvenile nasopharyngeal angiofibroma

    DEFF Research Database (Denmark)

    Silveira, Sara Martoreli; Custódio Domingues, Maria Aparecida; Butugan, Ossamu;

    2012-01-01

    % of chromosomal alterations were common by both components. Gene expression analyses revealed a positive correlation between endothelial and stromal components for ASPM, CDH1, CTNNB1, FGF18, and SUPT16H. A significant difference was found for FGF18 and AURKB overexpression in stromal cells and AR down...

  17. The Drosophila bipectinata species complex: phylogenetic relationship among different members based on chromosomal variations

    Indian Academy of Sciences (India)

    PARUL BANERJEE; BASHISTH N. SINGH

    2017-03-01

    Making interspecific hybridizations, where possible remains an unparalleled option for studying the intricacies of speciation. In the Drosophila bipectinata species complex comprising of four species, namely D. bipectinata, D. parabipectinata, D. malerkotliana and D. pseudoananassae, interspecific hybrids can be obtained in the laboratory, thus bequeathing an ideal opportunity for studying speciation and phylogeny. With the view of investigating the degree of divergence between each species pair, we planned to study the polytene chromosomes of the F1 hybrids, as it would mirror the level of compatibility between the genomes of the parental species. Two sets of crosses were made, one involving homozygous strains of all four species from India and the other including homozygous strains from different places across the globe. Polytene chromosomes of F1 larvae from both sets of crosses had similar configurations. In F1 larvae from crosses involving D. bipectinata, D. parabipectinata and D. malerkotliana, complex configurations (depicting overlapping inversions) could be detected in different arms. However, they were fairly synapsed, indicating that the differences are only at the level of gene arrangements. The polytene chromosomes of larvae obtained by crossing D. pseudoananassae with the other three species were very thin with gross asynapsis in all the arms, demonstrating that the genome of D. pseudoananassae is widely diverged from rest of the species. The overlapping inversions (reflected in complex configuration), are inferred in the light of earlier chromosomal studies performed in this complex.

  18. Clinical utility of the X-chromosome array.

    Science.gov (United States)

    Zarate, Yuri A; Dwivedi, Alka; Bartel, Frank O; Bellomo, M Allison; Cathey, Sara S; Champaigne, Neena L; Clarkson, L Kate; Dupont, Barbara R; Everman, David B; Geer, Joseph S; Gordon, Barbara C; Lichty, Angie W; Lyons, Michael J; Rogers, R Curtis; Saul, Robert A; Schroer, Richard J; Skinner, Steven A; Stevenson, Roger E

    2013-01-01

    Previous studies have limited the use of specific X-chromosome array designed platforms to the evaluation of patients with intellectual disability. In this retrospective analysis, we reviewed the clinical utility of an X-chromosome array in a variety of scenarios. We divided patients according to the indication for the test into four defined categories: (1) autism spectrum disorders and/or developmental delay and/or intellectual disability (ASDs/DD/ID) with known family history of neurocognitive disorders; (2) ASDs/DD/ID without known family history of neurocognitive disorders; (3) breakpoint definition of an abnormality detected by a different cytogenetic test; and (4) evaluation of suspected or known X-linked conditions. A total of 59 studies were ordered with 27 copy number variants detected in 25 patients (25/59 = 42%). The findings were deemed pathogenic/likely pathogenic (16/59 = 27%), benign (4/59 = 7%) or uncertain (7/59 = 12%). We place particular emphasis on the utility of this test for the diagnostic evaluation of families affected with X-linked conditions and how it compares to whole genome arrays in this setting. In conclusion, the X-chromosome array frequently detects genomic alterations of the X chromosome and it has advantages when evaluating some specific X-linked conditions. However, careful interpretation and correlation with clinical findings is needed to determine the significance of such changes. When the X-chromosome array was used to confirm a suspected X-linked condition, it had a yield of 63% (12/19) and was useful in the evaluation and risk assessment of patients and families.

  19. Chromosome substitution strain assessment of a Huntington's disease modifier locus.

    Science.gov (United States)

    Ramos, Eliana Marisa; Kovalenko, Marina; Guide, Jolene R; St Claire, Jason; Gillis, Tammy; Mysore, Jayalakshmi S; Sequeiros, Jorge; Wheeler, Vanessa C; Alonso, Isabel; MacDonald, Marcy E

    2015-04-01

    Huntington's disease (HD) is a dominant neurodegenerative disorder that is due to expansion of an unstable HTT CAG repeat for which genome-wide genetic scans are now revealing chromosome regions that contain disease-modifying genes. We have explored a novel human-mouse cross-species functional prioritisation approach, by evaluating the HD modifier 6q23-24 linkage interval. This unbiased strategy employs C57BL/6J (B6J) Hdh(Q111) knock-in mice, replicates of the HD mutation, and the C57BL/6J-chr10(A/J)/NaJ chromosome substitution strain (CSS10), in which only chromosome 10 (chr10), in synteny with the human 6q23-24 region, is derived from the A/J (AJ) strain. Crosses were performed to assess the possibility of dominantly acting chr10 AJ-B6J variants of strong effect that may modulate CAG-dependent Hdh(Q111/+) phenotypes. Testing of F1 progeny confirmed that a single AJ chromosome had a significant effect on the rate of body weight gain and in Hdh(Q111) mice the AJ chromosome was associated subtle alterations in somatic CAG instability in the liver and the formation of intra-nuclear inclusions, as well as DARPP-32 levels, in the striatum. These findings in relatively small cohorts are suggestive of dominant chr10 AJ-B6 variants that may modify effects of the CAG expansion, and encourage a larger study with CSS10 and sub-strains. This cross-species approach may therefore be suited to functional in vivo prioritisation of genomic regions harbouring genes that can modify the early effects of the HD mutation.

  20. Genomic in situ hybridization analysis of Thinopyrum chromatin in a wheat-Th. intermedium partial amphiploid and six derived chromosome addition lines

    Science.gov (United States)

    Chen; Conner; Laroche; Ji; Armstrong; Fedak

    1999-12-01

    The genomic origin of alien chromosomes present in a wheat-Thinopyrum intermedium partial amphiploid TAF46 (2n = 8x = 56) and six derived chromosome addition lines were analyzed by genomic in situ hybridization (GISH) using S genomic DNA from Pseudoroegneria strigosa (2n = 2x = 14, SS) as a probe. The GISH analysis clearly showed that the chromosome complement of the partial amphiploid TAF46 consists of an entire wheat genome plus one synthetic genome consisting of a mixture of six S genome chromosomes and eight J (=E) genome chromosomes derived from Th. intermedium (2n = 6x = 42, JJJ(s)J(s)SS). There were no Js genome chromosomes present in TAF46. The J genome chromosomes present in TAF46 displayed a unique GISH hybridization pattern with the S genomic DNA probe, in which S genome DNA strongly hybridized at the terminal regions and weakly hybridized over the remaining parts of the chromosomes. This provides a diagnostic marker for distinguishing J genome chromosomes from Js or S genome or wheat ABD genome chromosomes. The genomic origin of the alien chromosomes present in the six derived chromosome addition lines were identified by their characteristic GISH hybridization patterns with S genomic DNA probe. GISH analysis showed that addition lines L1, L2, L3, and L5 carried one pair of J genome chromosomes, while addition lines L4 and L7 each carried one pair of S genome chromosomes. GISH patterns detected by the S genome probe on addition line of L1 were identical to those of the J genome chromosomes present in the partial amphiploid TAF46, suggesting that these chromosomes were not structurally altered when they were transferred from TAF46 to addition lines.

  1. A new light on DNA replication from the inactive X chromosome.

    Science.gov (United States)

    Aladjem, Mirit I; Fu, Haiqing

    2014-06-01

    While large portions of the mammalian genome are known to replicate sequentially in a distinct, tissue-specific order, recent studies suggest that the inactive X chromosome is duplicated rapidly via random, synchronous DNA synthesis at numerous adjacent regions. The rapid duplication of the inactive X chromosome was observed in high-resolution studies visualizing DNA replication patterns in the nucleus, and by allele-specific DNA sequencing studies measuring the extent of DNA synthesis. These studies conclude that inactive X chromosomes complete replication earlier than previously thought and suggest that the strict order of DNA replication detected in the majority of genomic regions is not preserved in non-transcribed, "silent" chromatin. These observations alter current concepts about the regulation of DNA replication in non-transcribed portions of the genome in general and in the inactive X-chromosome in particular.

  2. The prognostic meaning of marker chromosomes in human urinary bladder carcinoma.

    Science.gov (United States)

    Burk, K; Harbott, J

    1984-01-01

    In summary, only a chromosome analysis of directly extracted tumour tissue seems to be of prognostic value, because this allows one to exclude alterations that are conditioned by cultures. The number of chromosomes does not give an indication of the malignancy and invasiveness of the tumour. The presence of marker chromosomes in superficial bladder carcinoma seems to worsen the prognosis of those patients significantly. Further observation of the previously investigated patients and new studies are aimed at determining whether the reported tendency proves to be valid. If the presence of marker chromosomes really enables us to predict an unfavourable prognosis, a timely cystectomy, i.e. cystectomy in the preinvasive stage, should decisively ameliorate the poor prognosis of these patients.

  3. ATM modulates the loading of recombination proteins onto a chromosomal translocation breakpoint hotspot.

    Directory of Open Access Journals (Sweden)

    Jiying Sun

    Full Text Available Chromosome translocations induced by DNA damaging agents, such as ionizing radiation and certain chemotherapies, alter genetic information resulting in malignant transformation. Abrogation or loss of the ataxia-telangiectasia mutated (ATM protein, a DNA damage signaling regulator, increases the incidence of chromosome translocations. However, how ATM protects cells from chromosome translocations is still unclear. Chromosome translocations involving the MLL gene on 11q23 are the most frequent chromosome abnormalities in secondary leukemias associated with chemotherapy employing etoposide, a topoisomerase II poison. Here we show that ATM deficiency results in the excessive binding of the DNA recombination protein RAD51 at the translocation breakpoint hotspot of 11q23 chromosome translocation after etoposide exposure. Binding of Replication protein A (RPA and the chromatin remodeler INO80, which facilitate RAD51 loading on damaged DNA, to the hotspot were also increased by ATM deficiency. Thus, in addition to activating DNA damage signaling, ATM may avert chromosome translocations by preventing excessive loading of recombinational repair proteins onto translocation breakpoint hotspots.

  4. Alternative Splicing of CHEK2 and Codeletion with NF2 Promote Chromosomal Instability in Meningioma

    Directory of Open Access Journals (Sweden)

    Hong Wei Yang

    2012-01-01

    Full Text Available Mutations of the NF2 gene on chromosome 22q are thought to initiate tumorigenesis in nearly 50% of meningiomas, and 22q deletion is the earliest and most frequent large-scale chromosomal abnormality observed in these tumors. In aggressive meningiomas, 22q deletions are generally accompanied by the presence of large-scale segmental abnormalities involving other chromosomes, but the reasons for this association are unknown. We find that large-scale chromosomal alterations accumulate during meningioma progression primarily in tumors harboring 22q deletions, suggesting 22q-associated chromosomal instability. Here we show frequent codeletion of the DNA repair and tumor suppressor gene, CHEK2, in combination with NF2 on chromosome 22q in a majority of aggressive meningiomas. In addition, tumor-specific splicing of CHEK2 in meningioma leads to decreased functional Chk2 protein expression. We show that enforced Chk2 knockdown in meningioma cells decreases DNA repair. Furthermore, Chk2 depletion increases centrosome amplification, thereby promoting chromosomal instability. Taken together, these data indicate that alternative splicing and frequent codeletion of CHEK2 and NF2 contribute to the genomic instability and associated development of aggressive biologic behavior in meningiomas.

  5. The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction

    Energy Technology Data Exchange (ETDEWEB)

    Toth-Fejel, S.; Olson, S.; Gunter, K. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1996-05-01

    Prader-Willi syndrome (PWS) is most often the result of a deletion of bands q11.2-q13 of the paternally derived chromosome 15, but it also occurs either because of maternal uniparental disomy (UPD) of this region or, rarely, from a methylation imprinting defect. A significant number of cases are due to structural rearrangements of the pericentromeric region of chromosome 15. We report two cases of PWS with UPD in which there was a meiosis I nondisjunction error involving an altered chromosome 15 produced by both a translocation event between the heteromorphic satellite regions of chromosomes 14 and 15 and recombination. In both cases, high-resolution banding of the long arm was normal, and FISH of probes D15S11, SNRPN, D15S10, and GABRB3 indicated no loss of this material. Chromosome heteromorphism analysis showed that each patient had maternal heterodisomy of the chromosome 15 short arm, whereas PCR of microsatellites demonstrated allele-specific maternal isodisomy and heterodisomy of the long arm. SNRPN gene methylation analysis revealed only a maternal imprint in both patients. We suggest that the chromosome structural rearrangements, combined with recombination in these patients, disrupted normal segregation of an imprinted region, resulting in uniparental disomy and PWS. 30 refs., 6 figs., 1 tab.

  6. Chromosomal context and replication properties of ARS plasmids in Schizosaccharomyces pombe

    Indian Academy of Sciences (India)

    Aditya S Pratihar; Vishnu P Tripathi; Mukesh P Yadav; Dharani D Dubey

    2015-12-01

    Short, specific DNA sequences called as Autonomously Replicating Sequence (ARS) elements function as plasmid as well as chromosomal replication origins in yeasts. As compared to ARSs, different chromosomal origins vary greatly in their efficiency and timing of replication probably due to their wider chromosomal context. The two Schizosaccharomyces pombe ARS elements, ars727 and ars2OO4, represent two extremities in their chromosomal origin activity - ars727 is inactive and late replicating, while ars2OO4 is a highly active, early-firing origin. To determine the effect of chromosomal context on the activity of these ARS elements, we have cloned them with their extended chromosomal context as well as in the context of each other in both orientations and analysed their replication efficiency by ARS and plasmid stability assays. We found that these ARS elements retain their origin activity in their extended/altered context. However, deletion of a 133-bp region of the previously reported ars727-associated late replication enforcing element (LRE) caused advancement in replication timing of the resulting plasmid. These results confirm the role of LRE in directing plasmid replication timing and suggest that the plasmid origin efficiency of ars2OO4 or ars727 remains unaltered by the extended chromosomal context.

  7. Mapping the Stability of Human Brain Asymmetry across Five Sex-Chromosome Aneuploidies

    Science.gov (United States)

    Lin, Amy; Clasen, Liv; Lee, Nancy Raitano; Wallace, Gregory L.; Lalonde, Francois; Blumenthal, Jonathan; Giedd, Jay N.

    2015-01-01

    The human brain displays stereotyped and early emerging patterns of cortical asymmetry in health. It is unclear if these asymmetries are highly sensitive to genetic and environmental variation or fundamental features of the brain that can survive severe developmental perturbations. To address this question, we mapped cortical thickness (CT) asymmetry in a group of genetically defined disorders known to impact CT development. Participants included 137 youth with one of five sex-chromosome aneuploidies [SCAs; XXX (n = 28), XXY (n = 58), XYY (n = 26), XXYY (n = 20), and XXXXY (n = 5)], and 169 age-matched typically developing controls (80 female). In controls, we replicated previously reported rightward inferior frontal and leftward lateral parietal CT asymmetry. These opposing frontoparietal CT asymmetries were broadly preserved in all five SCA groups. However, we also detected foci of shifting CT asymmetry with aneuploidy, which fell almost exclusively within regions of significant CT asymmetry in controls. Specifically, X-chromosome aneuploidy accentuated normative rightward inferior frontal asymmetries, while Y-chromosome aneuploidy reversed normative rightward medial prefrontal and lateral temporal asymmetries. These findings indicate that (1) the stereotyped normative pattern of opposing frontoparietal CT asymmetry arises from developmental mechanisms that can withstand gross chromosomal aneuploidy and (2) X and Y chromosomes can exert focal, nonoverlapping and directionally opposed influences on CT asymmetry within cortical regions of significant asymmetry in health. Our study attests to the resilience of developmental mechanisms that support the global patterning of CT asymmetry in humans, and motivates future research into the molecular bases and functional consequences of sex chromosome dosage effects on CT asymmetry. PMID:25568109

  8. Mapping the stability of human brain asymmetry across five sex-chromosome aneuploidies.

    Science.gov (United States)

    Lin, Amy; Clasen, Liv; Lee, Nancy Raitano; Wallace, Gregory L; Lalonde, Francois; Blumenthal, Jonathan; Giedd, Jay N; Raznahan, Armin

    2015-01-07

    The human brain displays stereotyped and early emerging patterns of cortical asymmetry in health. It is unclear if these asymmetries are highly sensitive to genetic and environmental variation or fundamental features of the brain that can survive severe developmental perturbations. To address this question, we mapped cortical thickness (CT) asymmetry in a group of genetically defined disorders known to impact CT development. Participants included 137 youth with one of five sex-chromosome aneuploidies [SCAs; XXX (n = 28), XXY (n = 58), XYY (n = 26), XXYY (n = 20), and XXXXY (n = 5)], and 169 age-matched typically developing controls (80 female). In controls, we replicated previously reported rightward inferior frontal and leftward lateral parietal CT asymmetry. These opposing frontoparietal CT asymmetries were broadly preserved in all five SCA groups. However, we also detected foci of shifting CT asymmetry with aneuploidy, which fell almost exclusively within regions of significant CT asymmetry in controls. Specifically, X-chromosome aneuploidy accentuated normative rightward inferior frontal asymmetries, while Y-chromosome aneuploidy reversed normative rightward medial prefrontal and lateral temporal asymmetries. These findings indicate that (1) the stereotyped normative pattern of opposing frontoparietal CT asymmetry arises from developmental mechanisms that can withstand gross chromosomal aneuploidy and (2) X and Y chromosomes can exert focal, nonoverlapping and directionally opposed influences on CT asymmetry within cortical regions of significant asymmetry in health. Our study attests to the resilience of developmental mechanisms that support the global patterning of CT asymmetry in humans, and motivates future research into the molecular bases and functional consequences of sex chromosome dosage effects on CT asymmetry.

  9. Genetic dosage and position effect of small supernumerary marker chromosome (sSMC) in human sperm nuclei in infertile male patient.

    Science.gov (United States)

    Olszewska, Marta; Wanowska, Elzbieta; Kishore, Archana; Huleyuk, Nataliya; Georgiadis, Andrew P; Yatsenko, Alexander N; Mikula, Mariya; Zastavna, Danuta; Wiland, Ewa; Kurpisz, Maciej

    2015-11-30

    Chromosomes occupy specific distinct areas in the nucleus of the sperm cell that may be altered in males with disrupted spermatogenesis. Here, we present alterations in the positioning of the human chromosomes 15, 18, X and Y between spermatozoa with the small supernumerary marker chromosome (sSMC; sSMC(+)) and spermatozoa with normal chromosome complement (sSMC(-)), for the first time described in the same ejaculate of an infertile, phenotypically normal male patient. Using classical and confocal fluorescent microscopy, the nuclear colocalization of chromosomes 15 and sSMC was analyzed. The molecular cytogenetic characteristics of sSMC delineated the karyotype as 47,XY,+der(15)(pter->p11.2::q11.1->q11.2::p11.2->pter)mat. Analysis of meiotic segregation showed a 1:1 ratio of sSMC(+) to sSMC(-) spermatozoa, while evaluation of sperm aneuploidy status indicated an increased level of chromosome 13, 18, 21 and 22 disomy, up to 7 × (2.7 - 15.1). Sperm chromatin integrity assessment did not reveal any increase in deprotamination in the patient's sperm chromatin. Importantly, we found significant repositioning of chromosomes X and Y towards the nuclear periphery, where both chromosomes were localized in close proximity to the sSMC. This suggests the possible influence of sSMC/XY colocalization on meiotic chromosome division, resulting in abnormal chromosome segregation, and leading to male infertility in the patient.

  10. Y-chromosome polymorphism: Possible largest Y chromosome in man?

    Energy Technology Data Exchange (ETDEWEB)

    Murthy, D.S.K.; Al-Awadi, S.A.; Bastaki, L. [Kuwait Medical Genetics Centre, Sulaibikat (Kuwait)] [and others

    1994-09-01

    The role of variations (inversions/deletion or duplication) in the heterochromatin in gonadal development and function, reproductive fitness, and malignant disease has been extensively studied. However, the causal-relationship of large Y (Yqh+) and repeated fetal loss has not been established unequivocally. An Arab couple (?Bedouin origin) with a history of repeated abortions were investigated. Karyotype analysis of the husband showed a very large Y chromosome, confirmed by GTG-, QFQ- and CBG-banding techniques. C-banding showed discontinuous distribution of the heterochromatin blocks separated by pale bands. The origin of the large heterochromatin segment could be due to tandem duplication of the Yq region or translocation (Yq:Yq). No other relatives (males) of the propositus have been available for investigation. Polymorphism of the Y chromosome could be attributed to evolutionary changes from an ancestral type, either by deletion or duplication of the heterochromatin segment. More detailed studies on isolated, aboriginal/tribal human populations will enable us to better understand the significance of the Y chromosome polymorphism.

  11. The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary

    OpenAIRE

    Wienberg, Johannes; Jauch, Anna; Lüdecke, H J; Senger, G.; Horsthemke, B; Claussen, U.; Cremer, Thomas; Arnold, N; Lengauer, Christoph

    1994-01-01

    Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will help to clarify phylogenetic relationships. We used a DNA library established by microdissection and microcloning from the entire long arm of human chromosome 2 for fluorescencein situ hybridization and comparative mapping of the chromosomes of ...

  12. Chromosomal bands affected by acute oil exposure and DNA repair errors.

    Directory of Open Access Journals (Sweden)

    Gemma Monyarch

    Full Text Available BACKGROUND: In a previous study, we showed that individuals who had participated in oil clean-up tasks after the wreckage of the Prestige presented an increase of structural chromosomal alterations two years after the acute exposure had occurred. Other studies have also reported the presence of DNA damage during acute oil exposure, but little is known about the long term persistence of chromosomal alterations, which can be considered as a marker of cancer risk. OBJECTIVES: We analyzed whether the breakpoints involved in chromosomal damage can help to assess the risk of cancer as well as to investigate their possible association with DNA repair efficiency. METHODS: Cytogenetic analyses were carried out on the same individuals of our previous study and DNA repair errors were assessed in cultures with aphidicolin. RESULTS: Three chromosomal bands, 2q21, 3q27 and 5q31, were most affected by acute oil exposure. The dysfunction in DNA repair mechanisms, expressed as chromosomal damage, was significantly higher in exposed-oil participants than in those not exposed (p= 0.016. CONCLUSION: The present study shows that breaks in 2q21, 3q27 and 5q31 chromosomal bands, which are commonly involved in hematological cancer, could be considered useful genotoxic oil biomarkers. Moreover, breakages in these bands could induce chromosomal instability, which can explain the increased risk of cancer (leukemia and lymphomas reported in chronically benzene-exposed individuals. In addition, it has been determined that the individuals who participated in clean-up of the oil spill presented an alteration of their DNA repair mechanisms two years after exposure.

  13. Genetic and epigenetic alterations in pancreatic carcinogenesis.

    Science.gov (United States)

    Delpu, Yannick; Hanoun, Naïma; Lulka, Hubert; Sicard, Flavie; Selves, Janick; Buscail, Louis; Torrisani, Jérôme; Cordelier, Pierre

    2011-03-01

    Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers worldwide. Despite significant progresses in the last decades, the origin of this cancer remains unclear and no efficient therapy exists. PDAC does not arise de novo: three remarkable different types of pancreatic lesions can evolve towards pancreatic cancer. These precursor lesions include: Pancreatic intraepithelial neoplasia (PanIN) that are microscopic lesions of the pancreas, Intraductal Papillary Mucinous Neoplasms (IPMN) and Mucinous Cystic Neoplasms (MCN) that are both macroscopic lesions. However, the cellular origin of these lesions is still a matter of debate. Classically, neoplasm initiation or progression is driven by several genetic and epigenetic alterations. The aim of this review is to assemble the current information on genetic mutations and epigenetic disorders that affect genes during pancreatic carcinogenesis. We will further discuss the interest of the genetic and epigenetic alterations for the diagnosis and prognosis of PDAC. Large genetic alterations (chromosomal deletion/amplification) and single point mutations are well described for carcinogenesis inducers. Mutations classically occur within key regions of the genome. Consequences are various and include activation of mitogenic pathways or silencing of apoptotic processes. Alterations of K-RAS, P16 and DPC4 genes are frequently observed in PDAC samples and have been described to arise gradually during carcinogenesis. DNA methylation is an epigenetic process involved in imprinting and X chromosome inactivation. Alteration of DNA methylation patterns leads to deregulation of gene expression, in the absence of mutation. Both genetic and epigenetic events influence genes and non-coding RNA expression, with dramatic effects on proliferation, survival and invasion. Besides improvement in our fundamental understanding of PDAC development, highlighting the molecular alterations that occur in pancreatic carcinogenesis could

  14. Mapping strategies: Chromosome 16 workshop. Final technical report

    Energy Technology Data Exchange (ETDEWEB)

    1989-12-31

    The following topics from a workshop on chromosome 16 are briefly discussed: genetic map of chromosome 16; chromosome breakpoint map of chromosome 16; integrated physical/genetic map of chromosome 16; pulsed field map of the 16p13.2--p13.3 region (3 sheets); and a report of the HGM10 chromosome 16 committee.

  15. The Chromosomes of Birds during Meiosis.

    Science.gov (United States)

    Pigozzi, María I

    2016-01-01

    The cytological analysis of meiotic chromosomes is an exceptional tool to approach complex processes such as synapsis and recombination during the division. Chromosome studies of meiosis have been especially valuable in birds, where naturally occurring mutants or experimental knock-out animals are not available to fully investigate the basic mechanisms of major meiotic events. This review highlights the main contributions of synaptonemal complex and lampbrush chromosome research to the current knowledge of avian meiosis, with special emphasis on the organization of chromosomes during prophase I, the impact of chromosome rearrangements during meiosis, and distinctive features of the ZW pair.

  16. Chromosome congression explained by nanoscale electrostatics.

    Science.gov (United States)

    Gagliardi, L John; Shain, Daniel H

    2014-02-24

    Nanoscale electrostatic microtubule disassembly forces between positively charged molecules in kinetochores and negative charges on plus ends of microtubules have been implicated in poleward chromosome motions and may also contribute to antipoleward chromosome movements. We propose that chromosome congression can be understood in terms of antipoleward nanoscale electrostatic microtubule assembly forces between negatively charged microtubule plus ends and like-charged chromosome arms, acting in conjunction with poleward microtubule disassembly forces. Several other aspects of post-attachment prometaphase chromosome motions, as well as metaphase oscillations, are consistently explained within this framework.

  17. Polymer models of chromosome (re)organization

    Science.gov (United States)

    Mirny, Leonid

    Chromosome Conformation Capture technique (Hi-C) provides comprehensive information about frequencies of spatial interactions between genomic loci. Inferring 3D organization of chromosomes from these data is a challenging biophysical problem. We develop a top-down approach to biophysical modeling of chromosomes. Starting with a minimal set of biologically motivated interactions we build ensembles of polymer conformations that can reproduce major features observed in Hi-C experiments. I will present our work on modeling organization of human metaphase and interphase chromosomes. Our works suggests that active processes of loop extrusion can be a universal mechanism responsible for formation of domains in interphase and chromosome compaction in metaphase.

  18. 5 CFR 890.1112 - Denial of continuation of coverage due to involuntary separation for gross misconduct.

    Science.gov (United States)

    2010-01-01

    ... involuntary separation for gross misconduct. 890.1112 Section 890.1112 Administrative Personnel OFFICE OF... involuntary separation for gross misconduct. (a) Notice of denial. (1) When an employing office determines that the offense for which an employee is being removed constitutes gross misconduct for the purpose...

  19. Paternal isodisomy for chromosome 7 and normal growth and development in a patient with congenital chloride diarrhea

    Energy Technology Data Exchange (ETDEWEB)

    Hoeglund, P.; de la Chapelle, A.; Kere, J. [Univ. of Helsinki, (Finland)] [and others

    1994-09-01

    Uniparental disomy (UPD) has been reported in an increasing number of patients, occasionally ascertained because of concomitant autosomal recessive disorders. In some cases, additional signs such as growth alteration, mental retardation or minor anomalies are present, suggesting an imprinting effect. For maternal chromosome 7, UPD has been described in three patients with recessive disorders. Severe growth retardation diagnosed in all these patients has been explained by the effect of imprinting of growth related genes on maternal chromosome 7. No cases of paternally derived disomy from chromosome 7 were previously known. Here we report paternal isodisomy for chromosome 7 and normal growth in a patient with a recessive disorder, congenital chloride diarrhea (CLD; MIM 214700). Ten informative microsatellite markers on chromosome 7 demonstrated that the proband did not have any maternal contribution to her genotype for that chromosome. Maternal and paternal alleles could not be distinguished for another 10 markers tested for chromosome 7, but the proband was always homozygous. As most uniparental paternal disomies appear to have a postzygotic origin, the primary event might have been a maternal meiotic nondisjunction. A thorough clinical evaluation with a view to additional signs of imprinted genes localized in chromosome 7 was performed. The physical status and laboratory tests were normal except for a mild high-frequency sensorineural hearing loss. As the patient has normal stature, it is likely that the paternal chromosome 7 lacks the suggested maternal imprinting effect on growth. The origin of the hearing loss remains speculative.

  20. Somatic pairing of chromosome 19 in renal oncocytoma is associated with deregulated EGLN2-mediated [corrected] oxygen-sensing response.

    Directory of Open Access Journals (Sweden)

    Julie M Koeman

    Full Text Available Chromosomal abnormalities, such as structural and numerical abnormalities, are a common occurrence in cancer. The close association of homologous chromosomes during interphase, a phenomenon termed somatic chromosome pairing, has been observed in cancerous cells, but the functional consequences of somatic pairing have not been established. Gene expression profiling studies revealed that somatic pairing of chromosome 19 is a recurrent chromosomal abnormality in renal oncocytoma, a neoplasia of the adult kidney. Somatic pairing was associated with significant disruption of gene expression within the paired regions and resulted in the deregulation of the prolyl-hydroxylase EGLN2 [corrected] a key protein that regulates the oxygen-dependent degradation of hypoxia-inducible factor (HIF. Overexpression of EGLN2 [corrected] in renal oncocytoma increased ubiquitin-mediated destruction of HIF and concomitantly suppressed the expression of several HIF-target genes, including the pro-death BNIP3L gene. The transcriptional changes that are associated with somatic pairing of chromosome 19 mimic the transcriptional changes that occur following DNA amplification. Therefore, in addition to numerical and structural chromosomal abnormalities, alterations in chromosomal spatial dynamics should be considered as genomic events that are associated with tumorigenesis. The identification of EGLN2 as a significantly deregulated gene that maps within the paired chromosome region directly implicates defects in the oxygen-sensing network to the biology of renal oncocytoma.

  1. Chromosome painting of Z and W sex chromosomes in Characidium (Characiformes, Crenuchidae).

    Science.gov (United States)

    Pazian, Marlon F; Shimabukuro-Dias, Cristiane Kioko; Pansonato-Alves, José Carlos; Oliveira, Claudio; Foresti, Fausto

    2013-03-01

    Some species of the genus Characidium have heteromorphic ZZ/ZW sex chromosomes with a totally heterochromatic W chromosome. Methods for chromosome microdissection associated with chromosome painting have become important tools for cytogenetic studies in Neotropical fish. In Characidium cf. fasciatum, the Z chromosome contains a pericentromeric heterochromatin block, whereas the W chromosome is completely heterochromatic. Therefore, a probe was produced from the W chromosome through microdissection and degenerate oligonucleotide-primed polymerase chain reaction amplification. FISH was performed using the W probe on the chromosomes of specimens of this species. This revealed expressive marks in the pericentromeric region of the Z chromosome as well as a completely painted W chromosome. When applying the same probe on chromosome preparations of C. cf. gomesi and Characidium sp., a pattern similar to C. cf. fasciatum was found, while C. cf. zebra, C. cf. lagosantense and Crenuchus spilurus species showed no hybridization signals. Structural changes in the chromosomes of an ancestral sexual system in the group that includes the species C. cf. gomesi, C. cf. fasciatum and Characidium sp., could have contributed to the process of speciation and could represent a causal mechanism of chromosomal diversification in this group. The heterochromatinization process possibly began in homomorphic and homologous chromosomes of an ancestral form, and this process could have given rise to the current patterns found in the species with sex chromosome heteromorphism.

  2. Allelic gains and losses in distinct regions of chromosome 6 in gastric carcinoma

    NARCIS (Netherlands)

    Carvalho, B; van der Veen, AY; Gartner, F; Carneiro, F; Seruca, R; Buys, CHCM; Kok, K

    2001-01-01

    In gastric cancer, alterations in the long arm of chromosome 6 are a frequent event. Two regions of heterozygous loss have been described: 6q16.3 similar to 6q23 and 6q26 similar to 6q27. We have evaluated by microsatellite and FISH analyses the 6q status of three cell lines that we established from

  3. Allelic gains and losses in distinct regions of chromosome 6 in gastric carcinoma

    NARCIS (Netherlands)

    Carvalho, B; van der Veen, AY; Gartner, F; Carneiro, F; Seruca, R; Buys, CHCM; Kok, K

    2001-01-01

    In gastric cancer, alterations in the long arm of chromosome 6 are a frequent event. Two regions of heterozygous loss have been described: 6q16.3 similar to 6q23 and 6q26 similar to 6q27. We have evaluated by microsatellite and FISH analyses the 6q status of three cell lines that we established from

  4. Longitudinal Association Between Gross Motor Capacity and Neuromusculoskeletal Function in Children and Youth With Cerebral Palsy

    NARCIS (Netherlands)

    Vos, Rimke C.; Becher, Jules G.; Voorman, Jeanine M.; Gorter, Jan Willem; van Eck, Mirjam; van Meeteren, Jetty; Smits, Dirk Wouter; Twisk, Jos W.; Dallmeijer, Annet J.

    2016-01-01

    Objective: To examine associations over longitudinal measurements between neuromusculoskeletal function and gross motor capacity in children and youth with cerebral palsy (CP). Design: A prospective cohort study. Setting: Rehabilitation departments of university medical centers and rehabilitations c

  5. Longitudinal Association Between Gross Motor Capacity and Neuromusculoskeletal Function in Children and Youth With Cerebral Palsy

    NARCIS (Netherlands)

    Vos, Rimke C.; Becher, Jules G.; Voorman, Jeanine M.; Gorter, Jan Willem; van Eck, Mirjam; van Meeteren, Jetty; Smits, Dirk Wouter; Twisk, Jos W.; Dallmeijer, Annet J.; van Schie, P. E M; Schuengel, C.; Ketelaar, M.; Lindeman, E.; Jongmans, M.; Roebroeck, M. E.; Tan, S. S.; Wiegerink, D. J H G; Reinders-Messelink, H. A.; Verheijden, J.

    2016-01-01

    Objective To examine associations over longitudinal measurements between neuromusculoskeletal function and gross motor capacity in children and youth with cerebral palsy (CP). Design A prospective cohort study. Setting Rehabilitation departments of university medical centers and rehabilitations cent

  6. The central role of trunk control in the gross motor function of children with cerebral palsy

    DEFF Research Database (Denmark)

    Curtis, Derek John; Butler, Penny; Saavedra, Sandy;

    2015-01-01

    Aim Improvement of gross motor function and mobility are primary goals of physical therapy in children with cerebral palsy (CP). The purpose of this study was to investigate the relationship between segmental control of the trunk and the corresponding gross motor function in children with CP....... Method This retrospective cross-sectional study was based on 92 consecutive referrals of children with CP in Gross Motor Function Classification System (GMFCS) levels I to V, 39 females, 53 males (median age 4y [range 1–14y]), and 77, 12, and 3 with spastic, dyskinetic, and ataxic CP respectively....... The participants were tested using the Gross Motor Function Measure (GMFM), the Pediatric Evaluation of Disability Inventory (PEDI), and the Segmental Assessment of Trunk Control (SATCo). Results Linear regression analysis showed a positive relationship between the segmental level of trunk control and age...

  7. Longitudinal Association Between Gross Motor Capacity and Neuromusculoskeletal Function in Children and Youth With Cerebral Palsy

    NARCIS (Netherlands)

    Vos, Rimke C.; Becher, Jules G.; Voorman, Jeanine M.; Gorter, Jan Willem; van Eck, Mirjam; van Meeteren, Jetty; Smits, Dirk Wouter; Twisk, Jos W.; Dallmeijer, Annet J.

    Objective: To examine associations over longitudinal measurements between neuromusculoskeletal function and gross motor capacity in children and youth with cerebral palsy (CP). Design: A prospective cohort study. Setting: Rehabilitation departments of university medical centers and rehabilitations

  8. Longitudinal Association Between Gross Motor Capacity and Neuromusculoskeletal Function in Children and Youth With Cerebral Palsy

    NARCIS (Netherlands)

    Vos, Rimke C.; Becher, Jules G.; Voorman, Jeanine M.; Gorter, Jan Willem; van Eck, Mirjam; van Meeteren, Jetty; Smits, Dirk Wouter; Twisk, Jos W.; Dallmeijer, Annet J.; van Schie, P. E M; Schuengel, C.; Ketelaar, M.; Lindeman, E.; Jongmans, M.; Roebroeck, M. E.; Tan, S. S.; Wiegerink, D. J H G; Reinders-Messelink, H. A.; Verheijden, J.

    2016-01-01

    Objective To examine associations over longitudinal measurements between neuromusculoskeletal function and gross motor capacity in children and youth with cerebral palsy (CP). Design A prospective cohort study. Setting Rehabilitation departments of university medical centers and rehabilitations

  9. Envelope Periodic Solutions to One-Dimensional Gross-Pitaevskii Equation in Bose-Einstein Condensation

    Institute of Scientific and Technical Information of China (English)

    LIU Shi-Kuo; GAO Bin; FU Zun-Tao; LIU Shi-Da

    2009-01-01

    In this paper, applying the dependent and independent variables transformations as well as the Jacobi elliptic function expansion method, the envelope periodic solutions to one-dimensional Gross-Pitaevskii equation in Bose-Einstein condensates are obtained.

  10. Chromosome X aneuploidy in Brazilian schizophrenic patients.

    Science.gov (United States)

    de Moraes, Leopoldo Silva; Khayat, André Salim; de Lima, Patrícia Danielle Lima; Lima, Eleonidas Moura; Pinto, Giovanny Rebouças; Leal, Mariana Ferreira; de Arruda Cardoso Smith, Marília; Burbano, Rommel Rodríguez

    2010-01-01

    The identification of cytogenetic abnormalities in schizophrenic patients may provide clues to the genes involved in this disease. For this reason, a chromosomal analysis of samples from 62 schizophrenics and 70 controls was performed with trypsin-Giemsa banding and fluorescence in situ hybridization of the X chromosome. A clonal pericentric inversion on chromosome 9 was detected in one male patient, and we also discovered mosaicism associated with X chromosome aneuploidy in female patients, primarily detected in schizophrenic and normal female controls over 40 years old. When compared with age-matched female controls, the frequency of X chromosome loss was not significantly different between schizophrenics and controls, except for the 40- to 49-year-old age group. Our findings suggest that the X chromosome loss seen in schizophrenic patients is inherent to the normal cellular aging process. However, our data also suggest that X chromosome gain may be correlated with schizophrenia in this Brazilian population.

  11. Flow cytometric detection of aberrant chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Gray, J.W.; Lucas, J.; Yu, L.C.; Langlois, R.

    1983-05-11

    This report describes the quantification of chromosomal aberrations by flow cytometry. Both homogeneously and heterogeneously occurring chromosome aberrations were studied. Homogeneously occurring aberrations were noted in chromosomes isolated from human colon carcinoma (LoVo) cells, stained with Hoechst 33258 and chromomycin A3 and analyzed using dual beam flow cytometry. The resulting bivariate flow karyotype showed a homogeneously occurring marker chromosome of intermediate size. Heterogeneously occurring aberrations were quantified by slit-scan flow cytometry in chromosomes isolated from control and irradiated Chinese hamster cells and stained with propidium iodide. Heterogeneously occurring dicentric chromosomes were detected by their shapes (two centrometers). The frequencies of such chromosomes estimated by slit-scan flow cytometry correlated well with the frequencies determined by visual microscopy.

  12. Dynamics of chromosome segregation in Escherichia coli

    DEFF Research Database (Denmark)

    Nielsen, Henrik Jørck

    2007-01-01

    in the cell by labeling specific parts of it. Later the dynamics of chromosome segregation was included. Investigating chromosome organization by labeling of specific loci was already a widely used technique when I started on this thesis, but the data acquisition and treatment was slow and generally poorly......, and it is obvious that structured cellular actions are required to unpack it, as required for its replication, and refold the two daughter chromosomes separately without getting them entangled in the process each generation. The intention of the study was initially to find out how the chromosome is organized....... Adding the results of the thesis together with known data results in the following description of the chromosome dynamics of slowly growing E.coli cells: The chromosome of slow growing cells is organized with the origin at the cell center when it is newborn. It has one chromosomal arm on one side...

  13. Chromosomal patterns in human malignant astrocytomas.

    Science.gov (United States)

    Rey, J A; Bello, M J; de Campos, J M; Kusak, M E; Ramos, C; Benitez, J

    1987-12-01

    Cytogenetic analysis by direct and/or in vitro preparations was performed on 34 malignant astrocytomas. Thirty tumors showed near-diploid chromosome numbers, whereas, tritetraploid chromosome complements were present in four tumors. The most frequent chromosomal changes implied numerical deviations by a gain of chromosomes #7, #19, and #20, and by losses of #10, #22, and Y. Structural rearrangements were present in stem- or side lines of 24 tumors. Although no common chromosomal rearrangement seems to exist among those tumors, chromosomes #1, #6, #7, and #9 were predominantly involved. Polysomy and structural rearrangements of chromosome #7 could be related to the overexpression of epidermal growth factor gene, previously observed in some malignant gliomas.

  14. Entropy as the driver of chromosome segregation.

    Science.gov (United States)

    Jun, Suckjoon; Wright, Andrew

    2010-08-01

    We present a new physical biology approach to understanding the relationship between the organization and segregation of bacterial chromosomes. We posit that replicated Escherichia coli daughter strands will spontaneously demix as a result of entropic forces, despite their strong confinement within the cell; in other words, we propose that entropy can act as a primordial physical force which drives chromosome segregation under the right physical conditions. Furthermore, proteins implicated in the regulation of chromosome structure and segregation may in fact function primarily in supporting such an entropy-driven segregation mechanism by regulating the physical state of chromosomes. We conclude that bacterial chromosome segregation is best understood in terms of spontaneous demixing of daughter strands. Our concept may also have important implications for chromosome segregation in eukaryotes, in which spindle-dependent chromosome movement follows an extended period of sister chromatid demixing and compaction.

  15. CHROMOSOMAL ABNORMALITIES IN PATIENTS WITH RECURRENT MISCARRIAGE

    Directory of Open Access Journals (Sweden)

    Daniela Mierla

    2012-06-01

    Full Text Available Chromosomal abnormalities are involved in the etiology of recurrent spontaneous pregnancy loss and sub-fertility. The purpose of this study was to determine the frequency and contribution of chromosomal abnormalities in recurrent miscarriages. The results obtained and literature review are helpful in understanding the importance of cytogenetics analysis of female infertility. To investigate the distribution of chromosomal abnormalities in the Romanian population with recurrent miscarriage, karyotype analysis by G-banding was performed from peripheral blood in 967 women infertility. Results: Chromosomal abnormalities were found to 79 women (8,17%. The percentage of chromosomal abnormalities in the studied population correlates with the data in the literature. Chromosomal abnormalities could play the important role in etiology of infertility and are more frequently detected in this group of patients compared to general population. In the infertile couples balanced chromosomal abnormalities are the main cause of spontaneous abortions.

  16. Environmental pollution, chromosomes, and health

    Science.gov (United States)

    Bell, Peter M.

    In mid-May, 1980, President Carter declared a state of emergency at the Love Canal area, near Niagara Falls, New York. The reason for this was for the U.S. to underwrite the relocation costs ($3-5 million) of some 2500 residents who, according to a report by the EPA (Environmental Protection Agency) may have suffered damaged chromosomes. These injuries were apparently caused by contact with toxic wastes that had been dumped in the area in the years prior to development for housing.That the toxic compounds exist in the Love Canal and Niagara Falls subsurface zones, including public water supplies, appears to be established fact. That the residents of the Love Canal area suffered chromosomal damage may be established fact as well. Whether or not these two findings can be linked to ill health of the residents is another matter. Recently, the EPA report has been described as having ‘close to zero scientific significance,’ and has been ‘discredited’(Science, 208, 123a, 1980). The reasons for this disparity go beyond differences of opinion, beyond possible inadequacies of the EPA study, and even beyond problems that probably will arise from future studies, including those now in the planning stages. The problem is that even if victims have easily recognizable injuries from toxic substances (injury that apparently has not occurred to Love Canal residents), medical science usually cannot show a causal relationship. Even chromosomal damage is, at best, difficult to interpret. In ideal studies of significant populations and control groups, the association of toxic chemical to chromosome damage and to cancer and birth defects is indirect and, up to now, has been shown to have little or no significance to an individual member of the exposed population.

  17. Bacterial Chromosome Organization and Segregation

    OpenAIRE

    Toro, Esteban; Shapiro, Lucy

    2010-01-01

    Bacterial chromosomes are generally ∼1000 times longer than the cells in which they reside, and concurrent replication, segregation, and transcription/translation of this crowded mass of DNA poses a challenging organizational problem. Recent advances in cell-imaging technology with subdiffraction resolution have revealed that the bacterial nucleoid is reliably oriented and highly organized within the cell. Such organization is transmitted from one generation to the next by progressive segrega...

  18. Effect of physical therapy frequency on gross motor function in children with cerebral palsy

    OpenAIRE

    Park, Eun-Young

    2016-01-01

    [Purpose] This study attempted to investigate the effect of physical therapy frequency based on neurodevelopmental therapy on gross motor function in children with cerebral palsy. [Subjects and Methods] The study sample included 161 children with cerebral palsy who attended a convalescent or rehabilitation center for disabled individuals or a special school for children with physical disabilities in South Korea. Gross Motor Function Measure data were collected according to physical therapy fr...

  19. Analysis of historical gross gamma logging data from BY tank farm

    Energy Technology Data Exchange (ETDEWEB)

    MYERS, D.A.

    1999-10-13

    Gross gamma ray logs, recorded from January 1975 through mid-year 1994 as part of the Single-Shell Tank Farm Dry Well Surveillance Program, have been reanalyzed for the BY tank farm to locate the presence of mobile radionuclides in the subsurface. This report presents the BY tank farm gross gamma ray data in such a way as to assist others in their study of vadose zone mechanisms.

  20. Current usage and future trends in gross digital photography in Canada.

    Science.gov (United States)

    Horn, Christopher L; DeKoning, Lawrence; Klonowski, Paul; Naugler, Christopher

    2014-01-14

    The purpose of this study was to assess the current usage, utilization and future direction of digital photography of gross surgical specimens in pathology laboratories across Canada. An online survey consisting of 23 multiple choice and free-text questions regarding gross digital photography was sent out to via email to laboratory staff across Canada involved in gross dissection of surgical specimens. Sixty surveys were returned with representation from most of the provinces. Results showed that gross digital photography is utilized at most institutions (90.0%) and the primary users of the technology are Pathologists (88.0%), Pathologists' Assistants (54.0%) and Pathology residents (50.0%). Most respondents felt that there is a definite need for routine digital imaging of gross surgical specimens in their practice (80.0%). The top two applications for gross digital photography are for documentation of interesting/ complex cases (98.0%) and for teaching purposes (84.0%). The main limitations identified by the survey group are storage space (42.5%) and security issues (40.0%). Respondents indicated that future applications of gross digital photography mostly include teaching (96.6%), presentation at tumour boards/ clinical rounds (89.8%), medico-legal documentation (72.9%) and usage for consultation purposes (69.5%). The results of this survey indicate that pathology staff across Canada currently utilizes gross digital images for regular documentation and educational reasons. They also show that the technology will be needed for future applications in teaching, consultation and medico-legal purposes.