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Sample records for chromosome arrangements affecting

  1. Non-random chromosome arrangement in triploid endosperm nuclei.

    PubMed

    Baroux, Célia; Pecinka, Ales; Fuchs, Jörg; Kreth, Gregor; Schubert, Ingo; Grossniklaus, Ueli

    2017-02-01

    The endosperm is at the center of successful seed formation in flowering plants. Being itself a product of fertilization, it is devoted to nourish the developing embryo and typically possesses a triploid genome consisting of two maternal and one paternal genome complement. Interestingly, endosperm development is controlled by epigenetic mechanisms conferring parent-of-origin-dependent effects that influence seed development. In the model plant Arabidopsis thaliana, we have previously described an endosperm-specific heterochromatin fraction, which increases with higher maternal, but not paternal, genome dosage. Here, we report a detailed analysis of chromosomal arrangement and association frequency in endosperm nuclei. We found that centromeric FISH signals in isolated nuclei show a planar alignment that may results from a semi-rigid, connective structure between chromosomes. Importantly, we found frequent pairwise association of centromeres, chromosomal segments, and entire arms of chromosomes in 3C endosperm nuclei. These associations deviate from random expectations predicted by numerical simulations. Therefore, we suggest a non-random chromosomal organization in the triploid nuclei of Arabidopsis endosperm. This contrasts with the prevailing random arrangement of chromosome territories in somatic nuclei. Based on observations on a series of nuclei with varying parental genome ratios, we propose a model where chromosomes associate pairwise involving one maternal and one paternal complement. The functional implications of this predicted chromosomal arrangement are discussed.

  2. The arrangement of Brachypodium distachyon chromosomes in interphase nuclei

    PubMed Central

    Robaszkiewicz, Ewa; Idziak-Helmcke, Dominika; Tkacz, Magdalena A.; Chrominski, Kornel; Hasterok, Robert

    2016-01-01

    The spatial organization of chromatin within the interphase nucleus and the interactions between chromosome territories (CTs) are essential for various biological processes, such as DNA replication, transcription, and repair. However, detailed data about the CT arrangement in monocotyledonous plants are scarce. In this study, chromosome painting was used to analyse the distribution and associations of individual chromosomes in the 3-D preserved nuclei of Brachypodium distachyon root cells in order to determine the factors that may have an impact on the homologous CT arrangement. It was shown that the frequency of CT association is linked to the steric constraints imposed by the limited space within the nucleus and may depend on chromosome size and morphology as well as on the nuclear shape. Furthermore, in order to assess whether the distribution of interphase chromosomes is random or is subject to certain patterns, a comparison between the experimental data and the results of a computer simulation (ChroTeMo), which was based on a fully probabilistic distribution of the CTs, was performed. This comparison revealed that homologous chromosome arm CTs associate more often than if they were randomly arranged inside the interphase nucleus. PMID:27588463

  3. The arrangement of Brachypodium distachyon chromosomes in interphase nuclei.

    PubMed

    Robaszkiewicz, Ewa; Idziak-Helmcke, Dominika; Tkacz, Magdalena A; Chrominski, Kornel; Hasterok, Robert

    2016-10-01

    The spatial organization of chromatin within the interphase nucleus and the interactions between chromosome territories (CTs) are essential for various biological processes, such as DNA replication, transcription, and repair. However, detailed data about the CT arrangement in monocotyledonous plants are scarce. In this study, chromosome painting was used to analyse the distribution and associations of individual chromosomes in the 3-D preserved nuclei of Brachypodium distachyon root cells in order to determine the factors that may have an impact on the homologous CT arrangement. It was shown that the frequency of CT association is linked to the steric constraints imposed by the limited space within the nucleus and may depend on chromosome size and morphology as well as on the nuclear shape. Furthermore, in order to assess whether the distribution of interphase chromosomes is random or is subject to certain patterns, a comparison between the experimental data and the results of a computer simulation (ChroTeMo), which was based on a fully probabilistic distribution of the CTs, was performed. This comparison revealed that homologous chromosome arm CTs associate more often than if they were randomly arranged inside the interphase nucleus. © The Author 2016. Published by Oxford University Press on behalf of the Society for Experimental Biology.

  4. Tracking of Chromosome and Replisome Dynamics in Myxococcus xanthus Reveals a Novel Chromosome Arrangement

    PubMed Central

    Schumacher, Dominik; Søgaard-Andersen, Lotte

    2013-01-01

    Cells closely coordinate cell division with chromosome replication and segregation; however, the mechanisms responsible for this coordination still remain largely unknown. Here, we analyzed the spatial arrangement and temporal dynamics of the 9.1 Mb circular chromosome in the rod-shaped cells of Myxococcus xanthus. For chromosome segregation, M. xanthus uses a parABS system, which is essential, and lack of ParB results in chromosome segregation defects as well as cell divisions over nucleoids and the formation of anucleate cells. From the determination of the dynamic subcellular location of six genetic loci, we conclude that in newborn cells ori, as monitored following the ParB/parS complex, and ter regions are localized in the subpolar regions of the old and new cell pole, respectively and each separated from the nearest pole by approximately 1 µm. The bulk of the chromosome is arranged between the two subpolar regions, thus leaving the two large subpolar regions devoid of DNA. Upon replication, one ori region remains in the original subpolar region while the second copy segregates unidirectionally to the opposite subpolar region followed by the rest of the chromosome. In parallel, the ter region of the mother chromosome relocates, most likely passively, to midcell, where it is replicated. Consequently, after completion of replication and segregation, the two chromosomes show an ori-ter-ter-ori arrangement with mirror symmetry about a transverse axis at midcell. Upon completion of segregation of the ParB/parS complex, ParA localizes in large patches in the DNA-free subpolar regions. Using an Ssb-YFP fusion as a proxy for replisome localization, we observed that the two replisomes track independently of each other from a subpolar region towards ter. We conclude that M. xanthus chromosome arrangement and dynamics combine features from previously described systems with new features leading to a novel spatiotemporal arrangement pattern. PMID:24068967

  5. Evolutionary history of the third chromosome gene arrangements of Drosophila pseudoobscura inferred from inversion breakpoints.

    PubMed

    Wallace, Andre G; Detweiler, Don; Schaeffer, Stephen W

    2011-08-01

    The third chromosome of Drosophila pseudoobscura is polymorphic for numerous gene arrangements that form classical clines in North America. The polytene salivary chromosomes isolated from natural populations revealed changes in gene order that allowed the different gene arrangements to be linked together by paracentric inversions representing one of the first cases where genetic data were used to construct a phylogeny. Although the inversion phylogeny can be used to determine the relationships among the gene arrangements, the cytogenetic data are unable to infer the ancestral arrangement or the age of the different chromosome types. These are both important properties if one is to infer the evolutionary forces responsible for the spread and maintenance of the chromosomes. Here, we employ the nucleotide sequences of 18 regions distributed across the third chromosome in 80-100 D. pseudoobscura strains to test whether five gene arrangements are of unique or multiple origin, what the ancestral arrangement was, and what are the ages of the different arrangements. Each strain carried one of six commonly found gene arrangements and the sequences were used to infer their evolutionary relationships. Breakpoint regions in the center of the chromosome supported monophyly of the gene arrangements, whereas regions at the ends of the chromosome gave phylogenies that provided less support for monophyly of the chromosomes either because the individual markers did not have enough phylogenetically informative sites or genetic exchange scrambled information among the gene arrangements. A data set where the genetic markers were concatenated strongly supported a unique origin of the different gene arrangements. The inversion polymorphism of D. pseudoobscura is estimated to be about a million years old. We have also shown that the generated phylogeny is consistent with the cytological phylogeny of this species. In addition, the data presented here support hypothetical as the ancestral

  6. The radial arrangement of the human chromosome 7 in the lymphocyte cell nucleus is associated with chromosomal band gene density.

    PubMed

    Federico, Concetta; Cantarella, Catia Daniela; Di Mare, Patrizia; Tosi, Sabrina; Saccone, Salvatore

    2008-08-01

    In the nuclei of human lymphocytes, chromosome territories are distributed according to the average gene density of each chromosome. However, chromosomes are very heterogeneous in size and base composition, and can contain both very gene-dense and very gene-poor regions. Thus, a precise analysis of chromosome organisation in the nuclei should consider also the distribution of DNA belonging to the chromosomal bands in each chromosome. To improve our understanding of the chromatin organisation, we localised chromosome 7 DNA regions, endowed with different gene densities, in the nuclei of human lymphocytes. Our results showed that this chromosome in cell nuclei is arranged radially with the gene-dense/GC-richest regions exposed towards the nuclear interior and the gene-poorest/GC-poorest ones located at the nuclear periphery. Moreover, we found that chromatin fibres from the 7p22.3 and the 7q22.1 bands are not confined to the territory of the bulk of this chromosome, protruding towards the inner part of the nucleus. Overall, our work demonstrates the radial arrangement of the territory of chromosome 7 in the lymphocyte nucleus and confirms that human genes occupy specific radial positions, presumably to enhance intra- and inter-chromosomal interaction among loci displaying a similar expression pattern, and/or similar replication timing.

  7. FISH analysis of the arrangement of chromosomes in interphase nuclei using telomeric, centromeric, and DNA painting probes

    NASA Astrophysics Data System (ADS)

    Monajembashi, Shamci; Schmitt, Eberhard; Dittmar, Heike; Greulich, Karl-Otto

    1999-01-01

    Fluorescence in situ hybridization is used to study the arrangement of chromosomes in interphase nuclei of unsynchronized human lymphocytes. DNA probes specific for telomeric DNA, centromeric (alpha) -satellite DNA and whole chromosomes 2, 7, 9 and X are employed. It is demonstrated that the shape of the chromosome territories is variable in cycling cells, for example, close to the metaphase chromosome homologues are arranged pairwise. Furthermore, the relative arrangement of chromosome homologues to each other is not spatially defined. Also, the relative orientation of centromeres and telomeres within a chromosome domain is variable.

  8. A New Noncoding RNA Arranges Bacterial Chromosome Organization.

    PubMed

    Qian, Zhong; Macvanin, Mirjana; Dimitriadis, Emilios K; He, Ximiao; Zhurkin, Victor; Adhya, Sankar

    2015-08-25

    Repeated extragenic palindromes (REPs) in the enterobacterial genomes are usually composed of individual palindromic units separated by linker sequences. A total of 355 annotated REPs are distributed along the Escherichia coli genome. RNA sequence (RNAseq) analysis showed that almost 80% of the REPs in E. coli are transcribed. The DNA sequence of REP325 showed that it is a cluster of six repeats, each with two palindromic units capable of forming cruciform structures in supercoiled DNA. Here, we report that components of the REP325 element and at least one of its RNA products play a role in bacterial nucleoid DNA condensation. These RNA not only are present in the purified nucleoid but bind to the bacterial nucleoid-associated HU protein as revealed by RNA IP followed by microarray analysis (RIP-Chip) assays. Deletion of REP325 resulted in a dramatic increase of the nucleoid size as observed using transmission electron microscopy (TEM), and expression of one of the REP325 RNAs, nucleoid-associated noncoding RNA 4 (naRNA4), from a plasmid restored the wild-type condensed structure. Independently, chromosome conformation capture (3C) analysis demonstrated physical connections among various REP elements around the chromosome. These connections are dependent in some way upon the presence of HU and the REP325 element; deletion of HU genes and/or the REP325 element removed the connections. Finally, naRNA4 together with HU condensed DNA in vitro by connecting REP325 or other DNA sequences that contain cruciform structures in a pairwise manner as observed by atomic force microscopy (AFM). On the basis of our results, we propose molecular models to explain connections of remote cruciform structures mediated by HU and naRNA4. Nucleoid organization in bacteria is being studied extensively, and several models have been proposed. However, the molecular nature of the structural organization is not well understood. Here we characterized the role of a novel nucleoid

  9. Evolutionary conservation of chromosome territory arrangements in cell nuclei from higher primates.

    PubMed

    Tanabe, Hideyuki; Müller, Stefan; Neusser, Michaela; von Hase, Johann; Calcagno, Enzo; Cremer, Marion; Solovei, Irina; Cremer, Christoph; Cremer, Thomas

    2002-04-02

    We demonstrate that the nuclear topological arrangement of chromosome territories (CTs) has been conserved during primate evolution over a period of about 30 million years. Recent evidence shows that the positioning of chromatin in human lymphocyte nuclei is correlated with gene density. For example, human chromosome 19 territories, which contain mainly gene-dense and early replicating chromatin, are located toward the nuclear center, whereas chromosome 18 territories, which consist mainly of gene-poor and later replicating chromatin, is located close to the nuclear border. In this study, we subjected seven different primate species to comparative analysis of the radial distribution pattern of human chromosome 18- and 19-homologous chromatin by three-dimensional fluorescence in situ hybridization. Our data demonstrate that gene-density-correlated radial chromatin arrangements were conserved during higher-primate genome evolution, irrespective of the major karyotypic rearrangements that occurred in different phylogenetic lineages. The evolutionarily conserved positioning of homologous chromosomes or chromosome segments in related species supports evidence for a functionally relevant higher-order chromatin arrangement that is correlated with gene-density.

  10. Systems-level chromosomal parameters represent a suprachromosomal basis for the non-random chromosomal arrangement in human interphase nuclei

    PubMed Central

    Fatakia, Sarosh N.; Mehta, Ishita S.; Rao, Basuthkar J.

    2016-01-01

    Forty-six chromosome territories (CTs) are positioned uniquely in human interphase nuclei, wherein each of their positions can range from the centre of the nucleus to its periphery. A non-empirical basis for their non-random arrangement remains unreported. Here, we derive a suprachromosomal basis of that overall arrangement (which we refer to as a CT constellation), and report a hierarchical nature of the same. Using matrix algebra, we unify intrinsic chromosomal parameters (e.g., chromosomal length, gene density, the number of genes per chromosome), to derive an extrinsic effective gene density matrix, the hierarchy of which is dominated largely by extrinsic mathematical coupling of HSA19, followed by HSA17 (human chromosome 19 and 17, both preferentially interior CTs) with all CTs. We corroborate predicted constellations and effective gene density hierarchy with published reports from fluorescent in situ hybridization based microscopy and Hi-C techniques, and delineate analogous hierarchy in disparate vertebrates. Our theory accurately predicts CTs localised to the nuclear interior, which interestingly share conserved synteny with HSA19 and/or HSA17. Finally, the effective gene density hierarchy dictates how permutations among CT position represents the plasticity within its constellations, based on which we suggest that a differential mix of coding with noncoding genome modulates the same. PMID:27845379

  11. Systems-level chromosomal parameters represent a suprachromosomal basis for the non-random chromosomal arrangement in human interphase nuclei.

    PubMed

    Fatakia, Sarosh N; Mehta, Ishita S; Rao, Basuthkar J

    2016-11-15

    Forty-six chromosome territories (CTs) are positioned uniquely in human interphase nuclei, wherein each of their positions can range from the centre of the nucleus to its periphery. A non-empirical basis for their non-random arrangement remains unreported. Here, we derive a suprachromosomal basis of that overall arrangement (which we refer to as a CT constellation), and report a hierarchical nature of the same. Using matrix algebra, we unify intrinsic chromosomal parameters (e.g., chromosomal length, gene density, the number of genes per chromosome), to derive an extrinsic effective gene density matrix, the hierarchy of which is dominated largely by extrinsic mathematical coupling of HSA19, followed by HSA17 (human chromosome 19 and 17, both preferentially interior CTs) with all CTs. We corroborate predicted constellations and effective gene density hierarchy with published reports from fluorescent in situ hybridization based microscopy and Hi-C techniques, and delineate analogous hierarchy in disparate vertebrates. Our theory accurately predicts CTs localised to the nuclear interior, which interestingly share conserved synteny with HSA19 and/or HSA17. Finally, the effective gene density hierarchy dictates how permutations among CT position represents the plasticity within its constellations, based on which we suggest that a differential mix of coding with noncoding genome modulates the same.

  12. Nucleosomal arrangement affects single-molecule transcription dynamics

    PubMed Central

    Fitz, Veronika; Shin, Jaeoh; Ehrlich, Christoph; Farnung, Lucas; Cramer, Patrick; Zaburdaev, Vasily; Grill, Stephan W.

    2016-01-01

    In eukaryotes, gene expression depends on chromatin organization. However, how chromatin affects the transcription dynamics of individual RNA polymerases has remained elusive. Here, we use dual trap optical tweezers to study single yeast RNA polymerase II (Pol II) molecules transcribing along a DNA template with two nucleosomes. The slowdown and the changes in pausing behavior within the nucleosomal region allow us to determine a drift coefficient, χ, which characterizes the ability of the enzyme to recover from a nucleosomal backtrack. Notably, χ can be used to predict the probability to pass the first nucleosome. Importantly, the presence of a second nucleosome changes χ in a manner that depends on the spacing between the two nucleosomes, as well as on their rotational arrangement on the helical DNA molecule. Our results indicate that the ability of Pol II to pass the first nucleosome is increased when the next nucleosome is turned away from the first one to face the opposite side of the DNA template. These findings help to rationalize how chromatin arrangement affects Pol II transcription dynamics. PMID:27791062

  13. Transcription-coupled DNA supercoiling dictates the chromosomal arrangement of bacterial genes.

    PubMed

    Sobetzko, Patrick

    2016-02-29

    Over the recent decade, the central importance of DNA supercoiling in chromosome organization and global gene regulation of bacteria became more and more visible. With a regulon comprising more than 2000 genes in Escherichia coli, DNA supercoiling is among the most influential regulators of gene expression found in bacteria so far. However, the mechanism creating thousands of diverse temporal gene expression patterns coordinated by DNA supercoiling remains unclear. In this study we show that a specific chromosomal arrangement of genes modulates the local levels of DNA supercoiling at gene promoters via transcription-coupled DNA supercoiling (TCDS) in the model organism E. coli. Our findings provide a consistent explanation for the strong positive coupling of temporal gene expression patterns of neighboring genes. Using comparative genomics we are furthermore able to provide evidence that TCDS is a driving force for the evolution of chromosomal gene arrangement patterns in other Enterobacteriaceae. With the currently available data of promoter supercoiling sensitivity we prove that the same principle is applicable also for the evolutionary distant gram-positive pathogenic bacterium Streptococcus pneumoniae. Moreover, our findings are fully consistent with recent investigations concerning the regulatory impact of TCDS on gene pairs in eukaryots underpinning the broad applicability of our analysis. © The Author 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.

  14. Transcription-coupled DNA supercoiling dictates the chromosomal arrangement of bacterial genes

    PubMed Central

    Sobetzko, Patrick

    2016-01-01

    Over the recent decade, the central importance of DNA supercoiling in chromosome organization and global gene regulation of bacteria became more and more visible. With a regulon comprising more than 2000 genes in Escherichia coli, DNA supercoiling is among the most influential regulators of gene expression found in bacteria so far. However, the mechanism creating thousands of diverse temporal gene expression patterns coordinated by DNA supercoiling remains unclear. In this study we show that a specific chromosomal arrangement of genes modulates the local levels of DNA supercoiling at gene promoters via transcription-coupled DNA supercoiling (TCDS) in the model organism E. coli. Our findings provide a consistent explanation for the strong positive coupling of temporal gene expression patterns of neighboring genes. Using comparative genomics we are furthermore able to provide evidence that TCDS is a driving force for the evolution of chromosomal gene arrangement patterns in other Enterobacteriaceae. With the currently available data of promoter supercoiling sensitivity we prove that the same principle is applicable also for the evolutionary distant gram-positive pathogenic bacterium Streptococcus pneumoniae. Moreover, our findings are fully consistent with recent investigations concerning the regulatory impact of TCDS on gene pairs in eukaryots underpinning the broad applicability of our analysis. PMID:26783203

  15. Do Knowledge Arrangements Affect Student Reading Comprehension of Genetics?

    ERIC Educational Resources Information Center

    Wu, Jen-Yi; Tung, Yu-Neng; Hwang, Bi-Chi; Lin, Chen-Yung; Che-Di, Lee; Chang, Yung-Ta

    2014-01-01

    Various sequences for teaching genetics have been proposed. Three seventh-grade biology textbooks in Taiwan share similar key knowledge assemblages but have different knowledge arrangements. To investigate the influence of knowledge arrangements on student understanding of genetics, we compared students' reading comprehension of the three texts…

  16. Do Knowledge Arrangements Affect Student Reading Comprehension of Genetics?

    ERIC Educational Resources Information Center

    Wu, Jen-Yi; Tung, Yu-Neng; Hwang, Bi-Chi; Lin, Chen-Yung; Che-Di, Lee; Chang, Yung-Ta

    2014-01-01

    Various sequences for teaching genetics have been proposed. Three seventh-grade biology textbooks in Taiwan share similar key knowledge assemblages but have different knowledge arrangements. To investigate the influence of knowledge arrangements on student understanding of genetics, we compared students' reading comprehension of the three texts…

  17. Positioning of Chromosomes in Human Spermatozoa Is Determined by Ordered Centromere Arrangement

    PubMed Central

    Mudrak, Olga S.; B. Nazarov, Igor; Jones, Estella L.; Zalensky, Andrei O.

    2012-01-01

    The intranuclear positioning of chromosomes (CHRs) is a well-documented fact; however, mechanisms directing such ordering remain unclear. Unlike somatic cells, human spermatozoa contain distinct spatial markers and have asymmetric nuclei which make them a unique model for localizing CHR territories and matching peri-centromere domains. In this study, we established statistically preferential longitudinal and lateral positioning for eight CHRs. Both parameters demonstrated a correlation with the CHR gene densities but not with their sizes. Intranuclear non-random positioning of the CHRs was found to be driven by a specific linear order of centromeres physically interconnected in continuous arrays. In diploid spermatozoa, linear order of peri-centromeres was identical in two genome sets and essentially matched the arrangement established for haploid cells. We propose that the non-random longitudinal order of CHRs in human spermatozoa is generated during meiotic stages of spermatogenesis. The specific arrangement of sperm CHRs may serve as an epigenetic basis for differential transcription/replication and direct spatial CHR organization during early embryogenesis. PMID:23300830

  18. Positioning of chromosomes in human spermatozoa is determined by ordered centromere arrangement.

    PubMed

    Mudrak, Olga S; Nazarov, Igor B; Jones, Estella L; Zalensky, Andrei O

    2012-01-01

    The intranuclear positioning of chromosomes (CHRs) is a well-documented fact; however, mechanisms directing such ordering remain unclear. Unlike somatic cells, human spermatozoa contain distinct spatial markers and have asymmetric nuclei which make them a unique model for localizing CHR territories and matching peri-centromere domains. In this study, we established statistically preferential longitudinal and lateral positioning for eight CHRs. Both parameters demonstrated a correlation with the CHR gene densities but not with their sizes. Intranuclear non-random positioning of the CHRs was found to be driven by a specific linear order of centromeres physically interconnected in continuous arrays. In diploid spermatozoa, linear order of peri-centromeres was identical in two genome sets and essentially matched the arrangement established for haploid cells. We propose that the non-random longitudinal order of CHRs in human spermatozoa is generated during meiotic stages of spermatogenesis. The specific arrangement of sperm CHRs may serve as an epigenetic basis for differential transcription/replication and direct spatial CHR organization during early embryogenesis.

  19. Individual Differences: Factors Affecting Employee Utilization of Flexible Work Arrangements

    ERIC Educational Resources Information Center

    Lambert, Alysa D.; Marler, Janet H.; Gueutal, Hal G.

    2008-01-01

    This study investigated individual and organizational factors that predict an individual's choice to use flexible work arrangements (FWAs). Survey data was collected from 144 employees in two different organizations. The results revealed several significant predictors of FWAs: tenure, hours worked per week, supervisory responsibilities,…

  20. Intranuclear DNA density affects chromosome condensation in metazoans

    PubMed Central

    Hara, Yuki; Iwabuchi, Mari; Ohsumi, Keita; Kimura, Akatsuki

    2013-01-01

    Chromosome condensation is critical for accurate inheritance of genetic information. The degree of condensation, which is reflected in the size of the condensed chromosomes during mitosis, is not constant. It is differentially regulated in embryonic and somatic cells. In addition to the developmentally programmed regulation of chromosome condensation, there may be adaptive regulation based on spatial parameters such as genomic length or cell size. We propose that chromosome condensation is affected by a spatial parameter called the chromosome amount per nuclear space, or “intranuclear DNA density.” Using Caenorhabditis elegans embryos, we show that condensed chromosome sizes vary during early embryogenesis. Of importance, changing DNA content to haploid or polyploid changes the condensed chromosome size, even at the same developmental stage. Condensed chromosome size correlates with interphase nuclear size. Finally, a reduction in nuclear size in a cell-free system from Xenopus laevis eggs resulted in reduced condensed chromosome sizes. These data support the hypothesis that intranuclear DNA density regulates chromosome condensation. This suggests an adaptive mode of chromosome condensation regulation in metazoans. PMID:23783035

  1. Intranuclear DNA density affects chromosome condensation in metazoans.

    PubMed

    Hara, Yuki; Iwabuchi, Mari; Ohsumi, Keita; Kimura, Akatsuki

    2013-08-01

    Chromosome condensation is critical for accurate inheritance of genetic information. The degree of condensation, which is reflected in the size of the condensed chromosomes during mitosis, is not constant. It is differentially regulated in embryonic and somatic cells. In addition to the developmentally programmed regulation of chromosome condensation, there may be adaptive regulation based on spatial parameters such as genomic length or cell size. We propose that chromosome condensation is affected by a spatial parameter called the chromosome amount per nuclear space, or "intranuclear DNA density." Using Caenorhabditis elegans embryos, we show that condensed chromosome sizes vary during early embryogenesis. Of importance, changing DNA content to haploid or polyploid changes the condensed chromosome size, even at the same developmental stage. Condensed chromosome size correlates with interphase nuclear size. Finally, a reduction in nuclear size in a cell-free system from Xenopus laevis eggs resulted in reduced condensed chromosome sizes. These data support the hypothesis that intranuclear DNA density regulates chromosome condensation. This suggests an adaptive mode of chromosome condensation regulation in metazoans.

  2. X-chromosome dosage affects male sexual behavior

    PubMed Central

    Bonthuis, Paul J.; Cox, Kimberly H.; Rissman, Emilie F.

    2012-01-01

    Sex differences in the brain and behavior are primarily attributed to dichotomous androgen exposure between males and females during neonatal development, as well as adult responses to gonadal hormones. Here we tested an alternative hypothesis and asked if sex chromosome complement influences male copulatory behavior, a standard behavior for studies of sexual differentiation. We used two mouse models with non-canonical associations between chromosomal and gonadal sex. In both models, we found evidence for sex chromosome complement as an important factor regulating sex differences in the expression of masculine sexual behavior. Counter intuitively, males with two X-chromosomes were faster to ejaculate and display more ejaculations than males with a single X. Moreover, mice of both sexes with two X-chromosomes displayed increased frequencies of mounts and thrusts. We speculate that expression levels of a yet to be discovered gene(s) on the X-chromosome may affect sexual behavior in mice and perhaps in other mammals. PMID:22349083

  3. Spatial arrangement of chromosomes in oocytes and spermatocytes of malaria mosquitoes

    SciTech Connect

    Stegnii, V.N.; Vasserlauf, I.E.

    1995-02-01

    It is shown that prophase chromosomes of oocytes in Anopheles messeae ovaries do not form local chromocenters, unlike spermatocytes, in which chromosomes fuse in a joint centromeric assembly. This fact reflects the dynamic nature of the system of chromocenter formation in generative tissues. During analysis of interspecific hybrids F{sub 1} A. maculipennis x A. subalpinus, no conjunction of homeologous chromosomes was observed, and the latter remained separated from one another. 6 refs., 1 fig.

  4. New arrangements on several species subcomplexes of Triatoma genus based on the chromosomal position of ribosomal genes (Hemiptera - Triatominae).

    PubMed

    Pita, Sebastián; Lorite, Pedro; Nattero, Julieta; Galvão, Cleber; Alevi, Kaio C C; Teves, Simone C; Azeredo-Oliveira, Maria T V; Panzera, Francisco

    2016-09-01

    The hemipteran subfamily Triatominae includes 150 blood-sucking species, vectors of Chagas disease. By far the most specious genus is Triatoma, assembled in groups, complexes and subcomplexes based on morphological similarities, geographic distribution and genetic data. However, many molecular studies questioned the species integration of several subcomplexes as monophyletic units. In triatomines, chromosomal position of major ribosomal DNA (rDNA) loci is extremely variable but seems to be species-specific and an evolutionary conserved genetic trait, so that closely related species tend to have ribosomal clusters in the same chromosomal location. Considering that the autosomal position as the ancestral character for all heteropteran species, including triatomines, we suggest that the movement of rDNA loci from autosomes to sex chromosomes rapidly established reproductive barriers between divergent lineages. We proposed that the rDNA translocation from the autosomes to the sex chromosomes restrict reproductive compatibility and eventually promote speciation processes. We analyzed the chromosomal position of 45S rDNA clusters in almost all species of the matogrossensis, rubrovaria, maculata and sordida subcomplexes. The fluorescent in situ hybridization results are discussed considering the available genetic data and we proposed new arrangements in the species that constitute each one of these subcomplexes.

  5. Sleeping arrangement and house structure affect bed net use in villages along Lake Victoria

    PubMed Central

    2010-01-01

    Background Although insecticide-treated bed nets are effective tools, use often does not follow ownership. House structure and space arrangements may make the attempt to use bed nets difficult, especially for school age children. The objectives of this study were to explore whether an individual's sleeping arrangements and house structure affect bed net use in villages along Lake Victoria in western Kenya. Methods Sleeping arrangements of residents were directly observed for use of a bed net, use of a bed, and location. House size, number and types of rooms, bed availability, and residents' ages were estimated. The family heads and mothers were asked about the reason for not using bed nets. Individual bed net use was examined against age and sleeping arrangement. Net use at the household level was examined against four variables: bed availability, bed net availability, house size, and number of rooms. Results Bed net use by children between five and 15 years of age was lower than that among the other age classes. However, age was dropped from the final model, and sleeping arrangement was significantly associated with net use. Net use was significantly associated with bed availability, number of rooms and their interaction. Conclusion Net use was affected by sleeping arrangement and availability of suitable locations for hanging nets, in addition to net availability. Most residents had likely not realized that sleeping arrangement was a factor in net use. The ease of hanging a net is particularly important for children. PMID:20569459

  6. X-chromosome dosage affects male sexual behavior.

    PubMed

    Bonthuis, Paul J; Cox, Kimberly H; Rissman, Emilie F

    2012-04-01

    Sex differences in the brain and behavior are primarily attributed to dichotomous androgen exposure between males and females during neonatal development, as well as adult responses to gonadal hormones. Here we tested an alternative hypothesis and asked if sex chromosome complement influences male copulatory behavior, a standard behavior for studies of sexual differentiation. We used two mouse models with non-canonical associations between chromosomal and gonadal sex. In both models, we found evidence for sex chromosome complement as an important factor regulating sex differences in the expression of masculine sexual behavior. Counter intuitively, males with two X-chromosomes were faster to ejaculate and display more ejaculations than males with a single X. Moreover, mice of both sexes with two X-chromosomes displayed increased frequencies of mounts and thrusts. We speculate that expression levels of a yet to be discovered gene(s) on the X-chromosome may affect sexual behavior in mice and perhaps in other mammals. Copyright © 2012 Elsevier Inc. All rights reserved.

  7. Type of chromosome abnormality affects embryo morphology dynamics.

    PubMed

    Del Carmen Nogales, Maria; Bronet, Fernando; Basile, Natalia; Martínez, Eva María; Liñán, Alberto; Rodrigo, Lorena; Meseguer, Marcos

    2017-01-01

    To study the differences in the cleavage time between types of embryo chromosomal abnormalities and elaborate algorithm to exclude aneuploid embryos according to the likelihood to be euploid. Retrospective cohort study. University affiliated private center. Preimplantational genetic screening patients (n = 112) including cases of advanced maternal age, repeated implantation failure, and recurrent miscarriage. A total of 485 embryos were analyzed. None. All biopsied embryos were cultured in an incubator with time-lapse technology, cleavage timing from insemination to day 3 and all kinetic parameters that have been described in previous studies by our group. Logistic regression analysis were used to identify morphokinetic parameters and some were strongly associated with complex aneuploid embryos; t3 (odds ratio = 0.590, 95% confidence interval 0.359-0.971) and t5-t2 (odds ratio = 0.151, 95% confidence interval 0.082-0.278). Embryo morphokinetics are affected by chromosome aneuploidy and further analysis of the chromosome content reveals higher differences when the complexity in the chromosome disorders is increased. The use of time-lapse monitoring, although not able to detect an abnormal embryo, may be potentially useful to discard those embryos with high risk of complex chromosomal abnormalities. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  8. Conservation of chromosomal arrangement among three strains of the genetically unstable archaeon Halobacterium salinarium.

    PubMed

    Hackett, N R; Bobovnikova, Y; Heyrovska, N

    1994-12-01

    Phenotypic variants of Halobacterium salinarium NRC-1 arise at a frequency of 10(-2). These result from transpositions of halobacterial insertion sequences and rearrangements mediated by halobacterial insertion sequences. We have tested the hypothesis that such mutations are confined to only a portion of the genome by comparing the chromosomal restriction map of H. salinarium NRC-1 and that of the derivative S9, which was made in 1969. The two chromosomes were mapped by using two-dimensional pulsed-field gel electrophoresis and the restriction enzymes AflII, AseI, and DraI. A comparison of the two deduced maps showed a domain of about 210 kbp to be subject to many rearrangements, including an inversion in S9 relative to NRC-1. However, the rest of the chromosome was conserved among NRC-1, S9, and an independent Halobacterium isolate, GRB, previously mapped by St. Jean et al. (A. St. Jean, B. A. Trieselmann, and R. L. Charlebois, Nucleic Acids Res. 22:1476-1483, 1994). This concurs with data from eubacteria suggesting strong selective forces maintaining gene order even in the face of rearrangement events occurring at a high frequency.

  9. Conservation of chromosomal arrangement among three strains of the genetically unstable archaeon Halobacterium salinarium.

    PubMed Central

    Hackett, N R; Bobovnikova, Y; Heyrovska, N

    1994-01-01

    Phenotypic variants of Halobacterium salinarium NRC-1 arise at a frequency of 10(-2). These result from transpositions of halobacterial insertion sequences and rearrangements mediated by halobacterial insertion sequences. We have tested the hypothesis that such mutations are confined to only a portion of the genome by comparing the chromosomal restriction map of H. salinarium NRC-1 and that of the derivative S9, which was made in 1969. The two chromosomes were mapped by using two-dimensional pulsed-field gel electrophoresis and the restriction enzymes AflII, AseI, and DraI. A comparison of the two deduced maps showed a domain of about 210 kbp to be subject to many rearrangements, including an inversion in S9 relative to NRC-1. However, the rest of the chromosome was conserved among NRC-1, S9, and an independent Halobacterium isolate, GRB, previously mapped by St. Jean et al. (A. St. Jean, B. A. Trieselmann, and R. L. Charlebois, Nucleic Acids Res. 22:1476-1483, 1994). This concurs with data from eubacteria suggesting strong selective forces maintaining gene order even in the face of rearrangement events occurring at a high frequency. Images PMID:8002597

  10. Acrocentric Chromosomes in Cultured Leukocytes from Mothers of Children Affected With the G1- Trisomy Syndrome

    ERIC Educational Resources Information Center

    And Others; Cotton, James E.

    1973-01-01

    Analysis of venous blood samples from 24 mothers of G1-trisomy-affected (Down's Syndrome) children and 23 mothers of chromosomally normal children indicated that mothers of G1-trisomy-affected children had a greater than expected involvement of the G-chromosomes in associations of acrocentric satellited (chromosome configuration) chromosomes.…

  11. A Pair of Maternal Chromosomes Derived from Meiotic Nondisjunction in Trisomy 21 Affects Nuclear Architecture and Transcriptional Regulation.

    PubMed

    Omori, Sayaka; Tanabe, Hideyuki; Banno, Kimihiko; Tsuji, Ayumi; Nawa, Nobutoshi; Hirata, Katsuya; Kawatani, Keiji; Kokubu, Chikara; Takeda, Junji; Taniguchi, Hidetoshi; Arahori, Hitomi; Wada, Kazuko; Kitabatake, Yasuji; Ozono, Keiichi

    2017-04-10

    Eukaryotic genomes are organised into complex higher-order structures within the nucleus, and the three-dimensional arrangement of chromosomes is functionally important for global gene regulation. The existence of supernumerary chromosome 21 in Down syndrome may perturb the nuclear architecture at different levels, which is normally optimised to maintain the physiological balance of gene expression. However, it has not been clearly elucidated whether and how aberrant configuration of chromosomes affects gene activities. To investigate the effects of trisomy 21 on nuclear organisation and gene expression, we performed three-dimensional fluorescent imaging analysis of chromosome-edited human induced pluripotent stem cells (iPSCs), which enabled identification of the parental origin of the three copies of chromosome 21. We found that two copies of maternal chromosomes resulting from meiotic nondisjunction had a higher tendency to form an adjacent pair and were located relatively distant from the nuclear membrane, suggesting the conserved interaction between these homologous chromosomes. Transcriptional profiling of parental-origin-specific corrected disomy 21 iPSC lines indicated upregulated expression of the maternal alleles for a group of genes, which was accompanied by a fluctuating expression pattern. These results suggest the unique effects of a pair of maternal chromosomes in trisomy 21, which may contribute to the pathological phenotype.

  12. Genome-Wide Transcriptional Regulation and Chromosome Structural Arrangement by GalR in E. coli

    PubMed Central

    Qian, Zhong; Trostel, Andrei; Lewis, Dale E. A.; Lee, Sang Jun; He, Ximiao; Stringer, Anne M.; Wade, Joseph T.; Schneider, Thomas D.; Durfee, Tim; Adhya, Sankar

    2016-01-01

    The regulatory protein, GalR, is known for controlling transcription of genes related to D-galactose metabolism in Escherichia coli. Here, using a combination of experimental and bioinformatic approaches, we identify novel GalR binding sites upstream of several genes whose function is not directly related to D-galactose metabolism. Moreover, we do not observe regulation of these genes by GalR under standard growth conditions. Thus, our data indicate a broader regulatory role for GalR, and suggest that regulation by GalR is modulated by other factors. Surprisingly, we detect regulation of 158 transcripts by GalR, with few regulated genes being associated with a nearby GalR binding site. Based on our earlier observation of long-range interactions between distally bound GalR dimers, we propose that GalR indirectly regulates the transcription of many genes by inducing large-scale restructuring of the chromosome. PMID:27900321

  13. Chromosomal locus that affects pathogenicity of Rhodococcus fascians.

    PubMed

    Vereecke, Danny; Cornelis, Karen; Temmerman, Wim; Jaziri, Mondher; Van Montagu, Marc; Holsters, Marcelle; Goethals, Koen

    2002-02-01

    The gram-positive plant pathogen Rhodococcus fascians provokes leafy gall formation on a wide range of plants through secretion of signal molecules that interfere with the hormone balance of the host. Crucial virulence genes are located on a linear plasmid, and their expression is tightly controlled. A mutant with a mutation in a chromosomal locus that affected virulence was isolated. The mutation was located in gene vicA, which encodes a malate synthase and is functional in the glyoxylate shunt of the Krebs cycle. VicA is required for efficient in planta growth in symptomatic, but not in normal, plant tissue, indicating that the metabolic requirement of the bacteria or the nutritional environment in plants or both change during the interaction. We propose that induced hyperplasia on plants represents specific niches for the causative organisms as a result of physiological alterations in the symptomatic tissue. Hence, such interaction could be referred to as metabolic habitat modification.

  14. [Klinefelter syndrome affects mostly boys. An underdiagnosed chromosome abnormality].

    PubMed

    Hagenäs, L; Arver, S

    1998-06-03

    Although Klinefelter's syndrome is the most common sex chromosome anomaly, affecting one in 5-800 boys, our knowledge of the syndrome is still poor. This is reflected in the paucity of published literature as compared, for example, with the vastly greater number of publications on Turner's syndrome with its lower incidence of 1/2,500 girls. Klinefelter's syndrome is manifestly underdiagnosed. Existing knowledge mainly derives from cases characterised by prominent symptomatology. Early diagnosis is important if additional support and resources are to be made available to the patient and his family. Testosterone replacement therapy should be initiated as soon as clinical and laboratory evidence becomes available. In selected cases, testosterone treatment can be started already during adolescence. At present, there is no established treatment for the infertility which almost always accompanies the condition.

  15. Process-oriented administration of the picture arrangement test does not affect the quantitative outcome.

    PubMed

    Gaudette, M D; Smith, J A

    1998-01-01

    Extracting the maximum amount of qualitative information of cognitive functioning from tests is one of the major goals, of the process approach to neuropsychological assessment. This study examined whether there is a difference in score in the Picture Arrangement (PA) test of the Wechsler Adult Intelligence Scale-Revised for participants who completed the standardized versus a process-oriented administration (i.e., asking the person to "tell the story" immediately following each item). Eighteen traumatic brain injury patients and 20 control participants (i. e., non-brain-injury volunteers) were randomly assigned to the standardized administration or the process-oriented administration of the PA test. A 2 x 2 (Group x Type of Administration) analysis of variance revealed no statistically significant interaction effect or main effect for type of administration. Therefore, the process of maximizing the elicitation of qualitative information does not appear to affect the quantitative outcome of the PA test.

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

    PubMed Central

    Dhanoa, Jasdeep Kaur; Mukhopadhyay, Chandra Sekhar; Arora, Jaspreet Singh

    2016-01-01

    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. PMID:27536043

  17. Light affects the structure of Chlamydomonas chloroplast chromosomes.

    PubMed

    Thompson, R J; Mosig, G

    1990-05-11

    We have analyzed changes in the structure of chloroplast chromosomes in response to light in growing Chlamydomonas cells using a crosslinking assay based on the intercalation of HMT (4'-hydroxymethyl-4,5',8-trimethylpsoralen) into DNA. Our results show that the structure of chloroplast chromosomes in at least three widely separated regions is different in light-grown vs. dark-grown cells. Structural changes in chloroplast chromosomes occur within 3 hrs after exposure to light or darkness, respectively. The response to light is not inhibited by atrazine and can be elicited by dim blue light incapable of evolving O2, indicating that it does not require photosynthesis. Inhibition of cytoplasmic protein synthesis with cycloheximide prevents this response to light, indicating that it depends, at least in part, on proteins imported from the cytoplasm.

  18. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

    PubMed Central

    Machiela, Mitchell J.; Zhou, Weiyin; Karlins, Eric; Sampson, Joshua N.; Freedman, Neal D.; Yang, Qi; Hicks, Belynda; Dagnall, Casey; Hautman, Christopher; Jacobs, Kevin B.; Abnet, Christian C.; Aldrich, Melinda C.; Amos, Christopher; Amundadottir, Laufey T.; Arslan, Alan A.; Beane-Freeman, Laura E.; Berndt, Sonja I.; Black, Amanda; Blot, William J.; Bock, Cathryn H.; Bracci, Paige M.; Brinton, Louise A.; Bueno-de-Mesquita, H Bas; Burdett, Laurie; Buring, Julie E.; Butler, Mary A.; Canzian, Federico; Carreón, Tania; Chaffee, Kari G.; Chang, I-Shou; Chatterjee, Nilanjan; Chen, Chu; Chen, Constance; Chen, Kexin; Chung, Charles C.; Cook, Linda S.; Crous Bou, Marta; Cullen, Michael; Davis, Faith G.; De Vivo, Immaculata; Ding, Ti; Doherty, Jennifer; Duell, Eric J.; Epstein, Caroline G.; Fan, Jin-Hu; Figueroa, Jonine D.; Fraumeni, Joseph F.; Friedenreich, Christine M.; Fuchs, Charles S.; Gallinger, Steven; Gao, Yu-Tang; Gapstur, Susan M.; Garcia-Closas, Montserrat; Gaudet, Mia M.; Gaziano, J. Michael; Giles, Graham G.; Gillanders, Elizabeth M.; Giovannucci, Edward L.; Goldin, Lynn; Goldstein, Alisa M.; Haiman, Christopher A.; Hallmans, Goran; Hankinson, Susan E.; Harris, Curtis C.; Henriksson, Roger; Holly, Elizabeth A.; Hong, Yun-Chul; Hoover, Robert N.; Hsiung, Chao A.; Hu, Nan; Hu, Wei; Hunter, David J.; Hutchinson, Amy; Jenab, Mazda; Johansen, Christoffer; Khaw, Kay-Tee; Kim, Hee Nam; Kim, Yeul Hong; Kim, Young Tae; Klein, Alison P.; Klein, Robert; Koh, Woon-Puay; Kolonel, Laurence N.; Kooperberg, Charles; Kraft, Peter; Krogh, Vittorio; Kurtz, Robert C.; LaCroix, Andrea; Lan, Qing; Landi, Maria Teresa; Marchand, Loic Le; Li, Donghui; Liang, Xiaolin; Liao, Linda M.; Lin, Dongxin; Liu, Jianjun; Lissowska, Jolanta; Lu, Lingeng; Magliocco, Anthony M.; Malats, Nuria; Matsuo, Keitaro; McNeill, Lorna H.; McWilliams, Robert R.; Melin, Beatrice S.; Mirabello, Lisa; Moore, Lee; Olson, Sara H.; Orlow, Irene; Park, Jae Yong; Patiño-Garcia, Ana; Peplonska, Beata; Peters, Ulrike; Petersen, Gloria M.; Pooler, Loreall; Prescott, Jennifer; Prokunina-Olsson, Ludmila; Purdue, Mark P.; Qiao, You-Lin; Rajaraman, Preetha; Real, Francisco X.; Riboli, Elio; Risch, Harvey A.; Rodriguez-Santiago, Benjamin; Ruder, Avima M.; Savage, Sharon A.; Schumacher, Fredrick; Schwartz, Ann G.; Schwartz, Kendra L.; Seow, Adeline; Wendy Setiawan, Veronica; Severi, Gianluca; Shen, Hongbing; Sheng, Xin; Shin, Min-Ho; Shu, Xiao-Ou; Silverman, Debra T.; Spitz, Margaret R.; Stevens, Victoria L.; Stolzenberg-Solomon, Rachael; Stram, Daniel; Tang, Ze-Zhong; Taylor, Philip R.; Teras, Lauren R.; Tobias, Geoffrey S.; Van Den Berg, David; Visvanathan, Kala; Wacholder, Sholom; Wang, Jiu-Cun; Wang, Zhaoming; Wentzensen, Nicolas; Wheeler, William; White, Emily; Wiencke, John K.; Wolpin, Brian M.; Wong, Maria Pik; Wu, Chen; Wu, Tangchun; Wu, Xifeng; Wu, Yi-Long; Wunder, Jay S.; Xia, Lucy; Yang, Hannah P.; Yang, Pan-Chyr; Yu, Kai; Zanetti, Krista A.; Zeleniuch-Jacquotte, Anne; Zheng, Wei; Zhou, Baosen; Ziegler, Regina G.; Perez-Jurado, Luis A.; Caporaso, Neil E.; Rothman, Nathaniel; Tucker, Margaret; Dean, Michael C.; Yeager, Meredith; Chanock, Stephen J.

    2016-01-01

    To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases. PMID:27291797

  19. Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome.

    PubMed

    Machiela, Mitchell J; Zhou, Weiyin; Karlins, Eric; Sampson, Joshua N; Freedman, Neal D; Yang, Qi; Hicks, Belynda; Dagnall, Casey; Hautman, Christopher; Jacobs, Kevin B; Abnet, Christian C; Aldrich, Melinda C; Amos, Christopher; Amundadottir, Laufey T; Arslan, Alan A; Beane-Freeman, Laura E; Berndt, Sonja I; Black, Amanda; Blot, William J; Bock, Cathryn H; Bracci, Paige M; Brinton, Louise A; Bueno-de-Mesquita, H Bas; Burdett, Laurie; Buring, Julie E; Butler, Mary A; Canzian, Federico; Carreón, Tania; Chaffee, Kari G; Chang, I-Shou; Chatterjee, Nilanjan; Chen, Chu; Chen, Constance; Chen, Kexin; Chung, Charles C; Cook, Linda S; Crous Bou, Marta; Cullen, Michael; Davis, Faith G; De Vivo, Immaculata; Ding, Ti; Doherty, Jennifer; Duell, Eric J; Epstein, Caroline G; Fan, Jin-Hu; Figueroa, Jonine D; Fraumeni, Joseph F; Friedenreich, Christine M; Fuchs, Charles S; Gallinger, Steven; Gao, Yu-Tang; Gapstur, Susan M; Garcia-Closas, Montserrat; Gaudet, Mia M; Gaziano, J Michael; Giles, Graham G; Gillanders, Elizabeth M; Giovannucci, Edward L; Goldin, Lynn; Goldstein, Alisa M; Haiman, Christopher A; Hallmans, Goran; Hankinson, Susan E; Harris, Curtis C; Henriksson, Roger; Holly, Elizabeth A; Hong, Yun-Chul; Hoover, Robert N; Hsiung, Chao A; Hu, Nan; Hu, Wei; Hunter, David J; Hutchinson, Amy; Jenab, Mazda; Johansen, Christoffer; Khaw, Kay-Tee; Kim, Hee Nam; Kim, Yeul Hong; Kim, Young Tae; Klein, Alison P; Klein, Robert; Koh, Woon-Puay; Kolonel, Laurence N; Kooperberg, Charles; Kraft, Peter; Krogh, Vittorio; Kurtz, Robert C; LaCroix, Andrea; Lan, Qing; Landi, Maria Teresa; Marchand, Loic Le; Li, Donghui; Liang, Xiaolin; Liao, Linda M; Lin, Dongxin; Liu, Jianjun; Lissowska, Jolanta; Lu, Lingeng; Magliocco, Anthony M; Malats, Nuria; Matsuo, Keitaro; McNeill, Lorna H; McWilliams, Robert R; Melin, Beatrice S; Mirabello, Lisa; Moore, Lee; Olson, Sara H; Orlow, Irene; Park, Jae Yong; Patiño-Garcia, Ana; Peplonska, Beata; Peters, Ulrike; Petersen, Gloria M; Pooler, Loreall; Prescott, Jennifer; Prokunina-Olsson, Ludmila; Purdue, Mark P; Qiao, You-Lin; Rajaraman, Preetha; Real, Francisco X; Riboli, Elio; Risch, Harvey A; Rodriguez-Santiago, Benjamin; Ruder, Avima M; Savage, Sharon A; Schumacher, Fredrick; Schwartz, Ann G; Schwartz, Kendra L; Seow, Adeline; Wendy Setiawan, Veronica; Severi, Gianluca; Shen, Hongbing; Sheng, Xin; Shin, Min-Ho; Shu, Xiao-Ou; Silverman, Debra T; Spitz, Margaret R; Stevens, Victoria L; Stolzenberg-Solomon, Rachael; Stram, Daniel; Tang, Ze-Zhong; Taylor, Philip R; Teras, Lauren R; Tobias, Geoffrey S; Van Den Berg, David; Visvanathan, Kala; Wacholder, Sholom; Wang, Jiu-Cun; Wang, Zhaoming; Wentzensen, Nicolas; Wheeler, William; White, Emily; Wiencke, John K; Wolpin, Brian M; Wong, Maria Pik; Wu, Chen; Wu, Tangchun; Wu, Xifeng; Wu, Yi-Long; Wunder, Jay S; Xia, Lucy; Yang, Hannah P; Yang, Pan-Chyr; Yu, Kai; Zanetti, Krista A; Zeleniuch-Jacquotte, Anne; Zheng, Wei; Zhou, Baosen; Ziegler, Regina G; Perez-Jurado, Luis A; Caporaso, Neil E; Rothman, Nathaniel; Tucker, Margaret; Dean, Michael C; Yeager, Meredith; Chanock, Stephen J

    2016-06-13

    To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases.

  20. Chromosome

    MedlinePlus

    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 ...

  1. International study of factors affecting human chromosome translocations

    PubMed Central

    Sigurdson, Alice J.; Ha, Mina; Hauptmann, Michael; Bhatti, Parveen; Sram, Radim J.; Beskid, Olena; Tawn, E. Janet; Whitehouse, Caroline A.; Lindholm, Carita; Nakano, Mimako; Kodama, Yoshiaki; Nakamura, Nori; Vorobtsova, Irena; Oestreicher, Ursula; Stephan, Günther; Yong, Lee C.; Bauchinger, Manfred; Schmid, Ernst; Chung, Hai Won; Darroudi, Firouz; Roy, Laurence; Voisin, Phillipe; Barquinero, Joan F.; Livingston, Gordon; Blakey, David; Hayata, Isamu; Zhang, Wei; Wang, Chunyan; Bennett, L. Michelle; Littlefield, L. Gayle; Edwards, Alan A.; Kleinerman, Ruth A.; Tucker, James D.

    2009-01-01

    Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from sixteen laboratories in North America, Europe, and Asia on TFs measured in peripheral blood lymphocytes by fluorescence in situ hybridization whole chromosome painting among 1933 individuals. In Poisson regression models, age, ranging from newborns (cord blood) to 85 years, was strongly associated with TF and this relationship showed significant upward curvature at older ages vs. a linear relationship (p <0.001). Ever smokers had significantly higher TFs than non-smokers (rate ratio (RR) = 1.19, 95% confidence interval (CI), 1.09–1.30) and smoking modified the effect of age on TFs with a steeper age-related increase among ever smokers compared to non-smokers (p<0.001). TFs did not differ by gender. Interpreting an independent effect of race was difficult owing to laboratory variation. Our study is three times larger than any pooled effort to date, confirming a suspected curvilinear relationship of TF with age. The significant effect of cigarette smoking has not been observed with previous pooled studies of TF in humans. Our data provide stable estimates of background TF by age, gender, race, and smoking status and suggest an acceleration of chromosome damage above age 60 and among those with a history of smoking cigarettes. PMID:18337160

  2. Spatial arrangements affect suppression of invasive Alternanthera philoxeroides by native Hemarthria compressa

    NASA Astrophysics Data System (ADS)

    Liao, Jianxiong; Tao, Min; Jiang, Mingxi

    2014-08-01

    It has been hypothesized that differences in spatial arrangements change the relative frequency of intra- and interspecific encounters between plant species. Manipulating spatial arrangement may play a role in invasive plant suppression when native species are used as competitors against introduced species. In this study, a replacement series experiment was performed to investigate the effects of intraspecifically random and aggregated spatial arrangements on interactions between the native plant Hemarthria compressa and the invasive plant Alternanthera philoxeroides, to test the possibility and effectiveness of H. compressa in suppressing A. philoxeroides. When both species were planted in intraspecifically random spatial patterns, H. compressa had a competitive advantage over A. philoxeroides at relative densities of 2:2 and 3:1. However, aggregation increased the strength, and therefore the cost, of intraspecific competition in H. compressa, resulting in lower biomass production, which reduced its effectiveness as an interspecific competitor. As the relative density of H. compressa in mixtures decreased, plants allocated more biomass to belowground parts, but fewer interspecific encounters lowered its inhibitory effects on A. philoxeroides. The results not only confirm that the frequency of conspecific and heterospecific encounters can influence competitive outcomes, but also suggest that a reduction in the degree of spatial aggregation in H. compressa and an increase in its relative densities may be essential to increase the suppression of A. philoxeroides.

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

    PubMed

    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.

  4. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.

    PubMed

    Lauer, J; Shen, C K; Maniatis, T

    1980-05-01

    We report the isolation of a cluster of four alpha-like globin genes from a bacteriophage lambda library of human DNA (Lawn et al., 1978). Analysis of the cloned DNA confirms the linkage arrangement of the two adult alpha-globin genes (alpha 1 and alpha 2) previously derived from genomic blotting experiments (Orkin, 1978) and identifies two additional closely linked alpha-like genes. The nucleotide sequence of a portion of each of these alpha-like genes was determined. One of these sequences is tentatively identified as an embryonic zeta-globin gene (zeta 1) by comparison with structural data derived from purified zeta-globin protein (J. Clegg, personal communication), while the other sequence cannot be matched with any known alpha-like polypeptide sequence (we designate this sequence phi alpha 1). Localization of the four alpha-like sequences on a restriction map of the gene cluster indicates that the genes have the same transcriptional orientation and are arranged in the order 5'-zeta 1-phi alpha 1-alpha 2-alpha 1-3'. Genomic blotting experiments identified a second, nonallelic zeta-like globin gene (phi 2) located 10-12 kb 5' to the cloned zeta-globin gene. Comparison of the locations of restriction sites within alpha 1 and alpha 2 and heteroduplex studies reveal extensive sequence homology within and flanking the two genes. The homologous sequences, which are interrupted by two blocks of nonhomology, span a region of approximately 4 kb. This extensive sequence homology between two genes which are thought to be the products of an ancient duplication event suggests the existence of a mechanism for sequence matching during evolution. One consequence of this arrangement of homologous sequences is the occurrence of two types of deletions in recombinant phage DNA during propagation in E. coli. The locations and sizes of the two types of deletions are indistinguishable from those of the two types of deletions associated with alpha-thalassemia 2 (Embury et al., 1979

  5. When do physician recruitment arrangements affect a hospital's tax-exempt status?--revisited.

    PubMed

    Wilder-Curtis, L M; Pollack, E B

    1995-05-01

    Physician recruitment incentives by hospitals continue to be popular in today's competitive health-care environment. A physician in private practice may also seek a hospital's assistance in recruiting a new colleague. In Conn Med 1989; 10:605-6, the authors discussed the prohibitions against private benefit and private inurement and their effect on recruitment packages. This article highlights new developments and Medicare/Medicaid fraud and abuse issues which may affect a tax-exempt hospital's status and, therefore, will dictate many of the terms of these packages.

  6. Chromosomal Bands Affected by Acute Oil Exposure and DNA Repair Errors

    PubMed Central

    Zock, Jan-Paul; Giraldo, Jesús; Pozo-Rodríguez, Francisco; Espinosa, Ana; Rodríguez-Trigo, Gema; Verea, Hector; Castaño-Vinyals, Gemma; Gómez, Federico P.; Antó, Josep M.; Coll, Maria Dolors; Barberà, Joan Albert; Fuster, Carme

    2013-01-01

    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. PMID:24303039

  7. Chromosomal bands affected by acute oil exposure and DNA repair errors.

    PubMed

    Monyarch, Gemma; de Castro Reis, Fernanda; Zock, Jan-Paul; Giraldo, Jesús; Pozo-Rodríguez, Francisco; Espinosa, Ana; Rodríguez-Trigo, Gema; Verea, Hector; Castaño-Vinyals, Gemma; Gómez, Federico P; Antó, Josep M; Coll, Maria Dolors; Barberà, Joan Albert; Fuster, Carme

    2013-01-01

    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. 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. Cytogenetic analyses were carried out on the same individuals of our previous study and DNA repair errors were assessed in cultures with aphidicolin. 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). 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.

  8. [Comparative chromosomal analysis of populations of phytophilous chironomidae Glyptotendipes glaucus (Mg.) from Chernobyl-affected territory].

    PubMed

    Belianina, S I

    2014-09-01

    The karyopools of the phytophilous chiromomid species of Glyptotendipes glaucus (Mg.) were studied. Chironomids originated from a number of reservoirs located in the Novozybkovsky rayon of the Bryansk region, which was affected by the Chernobyl radioactive release, and two reservoirs located in the Saratov region. Differences in the inversion spectrum and frequencies, both among Bryansk and between Bryansk and Saratov populations, were found. There were no new inversions in the Novozybkovsky populations; however, structurally small rearrangements in long chromosomes were noted. Typical abnormalities included mosaicism of the chromosome morphotypes in cells of the same saline gland, which was especially distinctive in the larvae from the forbidden zone; decondensation of the telomere regions of chromosomes; and mosaic asynapsis of the chromosome IV homologs (up to complete disjunction). Also, several larvae were polyploids. Other species of Glyptotendipes inhabiting the Novozybkovsky reservoirs were represented by the single species of G. paripes (near the Korchy settlement). The karyotypes of its several larvae were represented by an unorganized chromosomal substance. The other Glyptotendipes species seem to have lower adaptive abilities under the conditions in question and were eliminated from precatastrophe biotopes, while G. glaucus succeeded in adaptating to the new environment.

  9. The Chromosomal Arsenic Resistance Genes of Thiobacillus ferrooxidans Have an Unusual Arrangement and Confer Increased Arsenic and Antimony Resistance to Escherichia coli

    PubMed Central

    Butcher, Bronwyn G.; Deane, Shelly M.; Rawlings, Douglas E.

    2000-01-01

    The chromosomal arsenic resistance genes of the acidophilic, chemolithoautotrophic, biomining bacterium Thiobacillus ferrooxidans were cloned and sequenced. Homologues of four arsenic resistance genes, arsB, arsC, arsH, and a putative arsR gene, were identified. The T. ferrooxidans arsB (arsenite export) and arsC (arsenate reductase) gene products were functional when they were cloned in an Escherichia coli ars deletion mutant and conferred increased resistance to arsenite, arsenate, and antimony. Therefore, despite the fact that the ars genes originated from an obligately acidophilic bacterium, they were functional in E. coli. Although T. ferrooxidans is gram negative, its ArsC was more closely related to the ArsC molecules of gram-positive bacteria. Furthermore, a functional trxA (thioredoxin) gene was required for ArsC-mediated arsenate resistance in E. coli; this finding confirmed the gram-positive ArsC-like status of this resistance and indicated that the division of ArsC molecules based on Gram staining results is artificial. Although arsH was expressed in an E. coli-derived in vitro transcription-translation system, ArsH was not required for and did not enhance arsenic resistance in E. coli. The T. ferrooxidans ars genes were arranged in an unusual manner, and the putative arsR and arsC genes and the arsBH genes were translated in opposite directions. This divergent orientation was conserved in the four T. ferrooxidans strains investigated. PMID:10788346

  10. A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3.

    PubMed

    Straub, R E; Lehner, T; Luo, Y; Loth, J E; Shao, W; Sharpe, L; Alexander, J R; Das, K; Simon, R; Fieve, R R

    1994-11-01

    In a preliminary genome scan of 47 bipolar disorder families, we detected in one family a lod score of 3.41 at the PFKL locus on chromosome 21q22.3. The lod score is robust to marker allele frequencies, phenocopy rates and age-dependent penetrance, and remains strongly positive with changes in affection status. Fourteen other markers in 21q22.3 were tested on this family, with largely positive lod scores. Five of the other 46 families also show positive, but modest lod scores with PFKL. When all 47 families are analysed together, there is little support for linkage to PFKL under homogeneity or heterogeneity using lod score analysis, but the model-free affected-pedigree-member method yields statistically significant results (p < 0.0003). Our results are consistent with the presence of a gene in 21q22.3 predisposing at least one family to bipolar disorder.

  11. Analysis of Two Cosmid Clones from Chromosome 4 of Drosophila melanogaster Reveals Two New Genes Amid an Unusual Arrangement of Repeated Sequences

    PubMed Central

    Locke, John; Podemski, Lynn; Roy, Ken; Pilgrim, David; Hodgetts, Ross

    1999-01-01

    Chromosome 4 from Drosophila melanogaster has several unusual features that distinguish it from the other chromosomes. These include a diffuse appearance in salivary gland polytene chromosomes, an absence of recombination, and the variegated expression of P-element transgenes. As part of a larger project to understand these properties, we are assembling a physical map of this chromosome. Here we report the sequence of two cosmids representing ∼5% of the polytenized region. Both cosmid clones contain numerous repeated DNA sequences, as identified by cross hybridization with labeled genomic DNA, BLAST searches, and dot matrix analysis, which are positioned between and within the transcribed sequences. The repetitive sequences include three copies of the mobile element Hoppel, one copy of the mobile element HB, and 18 DINE repeats. DINE is a novel, short repeated sequence dispersed throughout both cosmid sequences. One cosmid includes the previously described cubitus interruptus (ci) gene and two new genes: that a gene with a predicted amino acid sequence similar to ribosomal protein S3a which is consistent with the Minute(4)101 locus thought to be in the region, and a novel member of the protein family that includes plexin and met–hepatocyte growth factor receptor. The other cosmid contains only the two short 5′-most exons from the zinc-finger-homolog-2 (zfh-2) gene. This is the first extensive sequence analysis of noncoding DNA from chromosome 4. The distribution of the various repeats suggests its organization is similar to the β-heterochromatic regions near the base of the major chromosome arms. Such a pattern may account for the diffuse banding of the polytene chromosome 4 and the variegation of many P-element transgenes on the chromosome. PMID:10022978

  12. Analysis of two cosmid clones from chromosome 4 of Drosophila melanogaster reveals two new genes amid an unusual arrangement of repeated sequences.

    PubMed

    Locke, J; Podemski, L; Roy, K; Pilgrim, D; Hodgetts, R

    1999-02-01

    Chromosome 4 from Drosophila melanogaster has several unusual features that distinguish it from the other chromosomes. These include a diffuse appearance in salivary gland polytene chromosomes, an absence of recombination, and the variegated expression of P-element transgenes. As part of a larger project to understand these properties, we are assembling a physical map of this chromosome. Here we report the sequence of two cosmids representing approximately 5% of the polytenized region. Both cosmid clones contain numerous repeated DNA sequences, as identified by cross hybridization with labeled genomic DNA, BLAST searches, and dot matrix analysis, which are positioned between and within the transcribed sequences. The repetitive sequences include three copies of the mobile element Hoppel, one copy of the mobile element HB, and 18 DINE repeats. DINE is a novel, short repeated sequence dispersed throughout both cosmid sequences. One cosmid includes the previously described cubitus interruptus (ci) gene and two new genes: that a gene with a predicted amino acid sequence similar to ribosomal protein S3a which is consistent with the Minute(4)101 locus thought to be in the region, and a novel member of the protein family that includes plexin and met-hepatocyte growth factor receptor. The other cosmid contains only the two short 5'-most exons from the zinc-finger-homolog-2 (zfh-2) gene. This is the first extensive sequence analysis of noncoding DNA from chromosome 4. The distribution of the various repeats suggests its organization is similar to the beta-heterochromatic regions near the base of the major chromosome arms. Such a pattern may account for the diffuse banding of the polytene chromosome 4 and the variegation of many P-element transgenes on the chromosome.

  13. Increased Number of Sex Chromosomes Affects Height in a Nonlinear Fashion: A Study of 305 Patients With Sex Chromosome Aneuploidy

    PubMed Central

    Ottesen, Anne Marie; Aksglaede, Lise; Garn, Inger; Tartaglia, Nicole; Tassone, Flora; Gravholt, Claus H.; Bojesen, Anders; Sørensen, Kaspar; Jørgensen, Niels; Meyts, Ewa Rajpert-De; Gerdes, Tommy; Lind, Anne-Marie; Kjaergaard, Susanne; Juul, Anders

    2017-01-01

    Tall stature and eunuchoid body proportions characterize patients with 47,XXY Klinefelter syndrome, whereas patients with 45,X Turner syndrome are characterized by impaired growth. Growth is relatively well characterized in these two syndromes, while few studies describe the growth of patients with higher grade sex chromosome aneuploidies. It has been proposed that tall stature in sex chromosome aneuploidy is related to an overexpression of SHOX, although the copy number of SHOX has not been evaluated in previous studies. Our aims were therefore: (1) to assess stature in 305 patients with sex chromosome aneuploidy and (2) to determine the number of SHOX copies in a subgroup of these patients (n =255) these patients and 74 healthy controls. Median height standard deviation scores in 46,XX males (n =6) were −1.2 (−2.8 to 0.3), +0.9 (−2.2 to + 4.6) in 47,XXY (n =129), +1.3 (−1.8 to +4.9) in 47,XYY (n =44), +1.1 (−1.9 to +3.4) in 48,XXYY (n =45), +1.8 (−2.0 to +3.2) in 48,XXXY (n =9), and −1.8 (−4.2 to −0.1) in 49,XXXXY (n =10). Median height standard deviation scores in patients with 45,X (n =6) were −2.6 (−4.1 to −1.6), +0.7 (−0.9 to +3.2) in 47,XXX (n =−40), −0.6 (−1.9 to +2.1) in 48,XXXX (n =13), and −1.0 (−3.5 to −0.8) in 49,XXXXX (n =3). Height increased with an increasing number of extra X or Y chromosomes, except in males with five, and in females with four or five sex chromosomes, consistent with a nonlinear effect on height. PMID:20425825

  14. Reduced rDNA copy number does not affect "competitive" chromosome pairing in XYY males of Drosophila melanogaster.

    PubMed

    Maggert, Keith A

    2014-03-20

    The ribosomal DNA (rDNA) arrays are causal agents in X-Y chromosome pairing in meiosis I of Drosophila males. Despite broad variation in X-linked and Y-linked rDNA copy number, polymorphisms in regulatory/spacer sequences between rRNA genes, and variance in copy number of interrupting R1 and R2 retrotransposable elements, there is little evidence that different rDNA arrays affect pairing efficacy. I investigated whether induced rDNA copy number polymorphisms affect chromosome pairing in a "competitive" situation in which complex pairing configurations were possible using males with XYY constitution. Using a common normal X chromosome, one of two different full-length Y chromosomes, and a third chromosome from a series of otherwise-isogenic rDNA deletions, I detected no differences in X-Y or Y-Y pairing or chromosome segregation frequencies that could not be attributed to random variation alone. This work was performed in the context of an undergraduate teaching program at Texas A&M University, and I discuss the pedagogical utility of this and other such experiments.

  15. Reduced rDNA Copy Number Does Not Affect “Competitive” Chromosome Pairing in XYY Males of Drosophila melanogaster

    PubMed Central

    Maggert, Keith A.

    2014-01-01

    The ribosomal DNA (rDNA) arrays are causal agents in X-Y chromosome pairing in meiosis I of Drosophila males. Despite broad variation in X-linked and Y-linked rDNA copy number, polymorphisms in regulatory/spacer sequences between rRNA genes, and variance in copy number of interrupting R1 and R2 retrotransposable elements, there is little evidence that different rDNA arrays affect pairing efficacy. I investigated whether induced rDNA copy number polymorphisms affect chromosome pairing in a “competitive” situation in which complex pairing configurations were possible using males with XYY constitution. Using a common normal X chromosome, one of two different full-length Y chromosomes, and a third chromosome from a series of otherwise-isogenic rDNA deletions, I detected no differences in X-Y or Y-Y pairing or chromosome segregation frequencies that could not be attributed to random variation alone. This work was performed in the context of an undergraduate teaching program at Texas A&M University, and I discuss the pedagogical utility of this and other such experiments. PMID:24449686

  16. CENP-A and topoisomerase-II antagonistically affect chromosome length.

    PubMed

    Ladouceur, A-M; Ranjan, Rajesh; Smith, Lydia; Fadero, Tanner; Heppert, Jennifer; Goldstein, Bob; Maddox, Amy Shaub; Maddox, Paul S

    2017-09-04

    The size of mitotic chromosomes is coordinated with cell size in a manner dependent on nuclear trafficking. In this study, we conducted an RNA interference screen of the Caenorhabditis elegans nucleome in a strain carrying an exceptionally long chromosome and identified the centromere-specific histone H3 variant CENP-A and the DNA decatenizing enzyme topoisomerase-II (topo-II) as candidate modulators of chromosome size. In the holocentric organism C. elegans, CENP-A is positioned periodically along the entire length of chromosomes, and in mitosis, these genomic regions come together linearly to form the base of kinetochores. We show that CENP-A protein levels decreased through development coinciding with chromosome-size scaling. Partial loss of CENP-A protein resulted in shorter mitotic chromosomes, consistent with a role in setting chromosome length. Conversely, topo-II levels were unchanged through early development, and partial topo-II depletion led to longer chromosomes. Topo-II localized to the perimeter of mitotic chromosomes, excluded from the centromere regions, and depletion of topo-II did not change CENP-A levels. We propose that self-assembly of centromeric chromatin into an extended linear array promotes elongation of the chromosome, whereas topo-II promotes chromosome-length shortening. © 2017 Ladouceur et al.

  17. Addition of Aegilops U and M Chromosomes Affects Protein and Dietary Fiber Content of Wholemeal Wheat Flour.

    PubMed

    Rakszegi, Marianna; Molnár, István; Lovegrove, Alison; Darkó, Éva; Farkas, András; Láng, László; Bedő, Zoltán; Doležel, Jaroslav; Molnár-Láng, Márta; Shewry, Peter

    2017-01-01

    Cereal grain fiber is an important health-promoting component in the human diet. One option to improve dietary fiber content and composition in wheat is to introduce genes from its wild relatives Aegilops biuncialis and Aegilops geniculata. This study showed that the addition of chromosomes 2U(g), 4U(g), 5U(g), 7U(g), 2M(g), 5M(g), and 7M(g) of Ae. geniculata and 3U(b), 2M(b), 3M(b), and 7M(b) of Ae. biuncialis into bread wheat increased the seed protein content. Chromosomes 1U(g) and 1M(g) increased the proportion of polymeric glutenin proteins, while the addition of chromosomes 1U(b) and 6U(b) led to its decrease. Both Aegilops species had higher proportions of β-glucan compared to arabinoxylan (AX) than wheat lines, and elevated β-glucan content was also observed in wheat chromosome addition lines 5U, 7U, and 7M. The AX content in wheat was increased by the addition of chromosomes 5U(g), 7U(g), and 1U(b) while water-soluble AX was increased by the addition of chromosomes 5U, 5M, and 7M, and to a lesser extent by chromosomes 3, 4, 6U(g), and 2M(b). Chromosomes 5U(g) and 7M(b) also affected the structure of wheat AX, as shown by the pattern of oligosaccharides released by digestion with endoxylanase. These results will help to map genomic regions responsible for edible fiber content in Aegilops and will contribute to the efficient transfer of wild alleles in introgression breeding programs to obtain wheat varieties with improved health benefits. Key Message: Addition of Aegilops U- and M-genome chromosomes 5 and 7 improves seed protein and fiber content and composition in wheat.

  18. Addition of Aegilops U and M Chromosomes Affects Protein and Dietary Fiber Content of Wholemeal Wheat Flour

    PubMed Central

    Rakszegi, Marianna; Molnár, István; Lovegrove, Alison; Darkó, Éva; Farkas, András; Láng, László; Bedő, Zoltán; Doležel, Jaroslav; Molnár-Láng, Márta; Shewry, Peter

    2017-01-01

    Cereal grain fiber is an important health-promoting component in the human diet. One option to improve dietary fiber content and composition in wheat is to introduce genes from its wild relatives Aegilops biuncialis and Aegilops geniculata. This study showed that the addition of chromosomes 2Ug, 4Ug, 5Ug, 7Ug, 2Mg, 5Mg, and 7Mg of Ae. geniculata and 3Ub, 2Mb, 3Mb, and 7Mb of Ae. biuncialis into bread wheat increased the seed protein content. Chromosomes 1Ug and 1Mg increased the proportion of polymeric glutenin proteins, while the addition of chromosomes 1Ub and 6Ub led to its decrease. Both Aegilops species had higher proportions of β-glucan compared to arabinoxylan (AX) than wheat lines, and elevated β-glucan content was also observed in wheat chromosome addition lines 5U, 7U, and 7M. The AX content in wheat was increased by the addition of chromosomes 5Ug, 7Ug, and 1Ub while water-soluble AX was increased by the addition of chromosomes 5U, 5M, and 7M, and to a lesser extent by chromosomes 3, 4, 6Ug, and 2Mb. Chromosomes 5Ug and 7Mb also affected the structure of wheat AX, as shown by the pattern of oligosaccharides released by digestion with endoxylanase. These results will help to map genomic regions responsible for edible fiber content in Aegilops and will contribute to the efficient transfer of wild alleles in introgression breeding programs to obtain wheat varieties with improved health benefits. Key Message: Addition of Aegilops U- and M-genome chromosomes 5 and 7 improves seed protein and fiber content and composition in wheat. PMID:28932231

  19. Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

    PubMed Central

    2010-01-01

    Background Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic mechanism underlying seizures disorders in r(20) syndrome is still unknown. We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome. Methods We submitted 8 subjects with a previous diagnosis of ring 20 chromosome mosaicism to a clinical re-evaluation, followed by cytogenetic, FISH, array-CGH and molecular analyses. The genetic study was also extended to their available parents. Results FISH and array-CGH experiments indicate that cryptic deletions on chromosome 20 are not the cause of the r(20) chromosome associated disease. Moreover, no evidence of chromosome 20 uniparental disomy was found. Analysis of FISH signals given by variant in size alphoid tandem repeats probes on the normal chromosome 20 and the r(20) chromosome in the mosaic carriers suggests that the r(20) chromosome is the same chromosome not circularized in the "normal" cell line. Conclusions Higher percentages of r(20) chromosome cells were observed to be related with precocious age at seizure onset and with resistance to antiepileptic drug treatment. Behavioural problems also seem to be associated with higher percentages of r(20) chromosome cells. Our results suggest that an epigenetic mechanism perturbing the expression of genes close to the telomeric regions, rather than deletion of genes located at the distal 20p and/or 20q regions, may underlie the manifestation of r(20) syndrome. PMID:20939888

  20. Chromosome Territories

    PubMed Central

    Cremer, Thomas; Cremer, Marion

    2010-01-01

    Chromosome territories (CTs) constitute a major feature of nuclear architecture. In a brief statement, the possible contribution of nuclear architecture studies to the field of epigenomics is considered, followed by a historical account of the CT concept and the final compelling experimental evidence of a territorial organization of chromosomes in all eukaryotes studied to date. Present knowledge of nonrandom CT arrangements, of the internal CT architecture, and of structural interactions with other CTs is provided as well as the dynamics of CT arrangements during cell cycle and postmitotic terminal differentiation. The article concludes with a discussion of open questions and new experimental strategies to answer them. PMID:20300217

  1. Chromosomal instability affects the tumorigenicity of glioblastoma tumor-initiating cells

    PubMed Central

    Godek, Kristina M.; Venere, Monica; Wu, Quilian; Mills, Kevin D.; Hickey, William F.; Rich, Jeremy N.; Compton, Duane A.

    2016-01-01

    Tumors are dynamic organs that evolve during disease progression with genetic, epigenetic, and environmental differences among tumor cells serving as the foundation for selection and evolution in tumors. Tumor-initiating cells (TICs) that are responsible for tumorigenesis are a source of functional cellular heterogeneity while chromosomal instability (CIN) is a source of karyotypic genetic diversity. However, the extent that CIN contributes to TIC genetic diversity and its relationship to TIC function remains unclear. Here we demonstrate that glioblastoma TICs display chromosomal instability with lagging chromosomes at anaphase and extensive non-clonal chromosome copy number variations. Elevating the basal chromosome mis-segregation rate in TICs both decreases proliferation and the stem-like phenotype of TICs in vitro. Consequently tumor formation is abolished in an orthotopic mouse model. These results demonstrate that TICs generate genetic heterogeneity within tumors but that TIC function is impaired if the rate of genetic change is elevated above a tolerable threshold. PMID:27001151

  2. Identification of a short region on chromosome 6 affecting direct calving ease in Piedmontese cattle breed.

    PubMed

    Bongiorni, Silvia; Mancini, Giordano; Chillemi, Giovanni; Pariset, Lorraine; Valentini, Alessio

    2012-01-01

    Calving in cattle is affected by calf morphology and by dam characteristics. It is described by two different traits: maternal calving ease, which is the ability to generate dams with good physiological predisposition to calving, and direct calving ease, which is the ability to generate calves that are easily born. The aim of this study was to identify regions of cattle genome harboring genes possibly affecting direct calving ease in the Piedmontese cattle breed. A population of 323 bulls scored for direct calving ease (EBV) was analyzed by a medium-density SNP marker panel (54,001 SNPs) to perform a genome-wide scan. The strongest signal was detected on chromosome 6 between 37.8 and 38.7 Mb where 13 SNPs associated to direct calving ease were found. Three genes are located in this region: LAP3, encoding for a leucine aminopeptidase involved in the oxytocin hydrolysis; NCAPG, encoding for a non-SMC condensin I complex, which has been associated in cattle with fetal growth and carcass size; and LCORL, which has been associated to height in humans and cattle. To further confirm the results of the genome-wide scan we genotyped additional SNPs within these genes and analyzed their association with direct calving ease. The results of this additional analysis fully confirmed the findings of the GWAS and particularly indicated LAP3 as the most probable gene involved. Linkage Disequilibrium (LD) analysis showed high correlation between SNPs located within LAP3 and LCORL indicating a possible selection signature due either to increased fitness or breeders' selection for the trait.

  3. Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study.

    PubMed

    Nishiyama, Miyuki; Sekizawa, Akihiko; Ogawa, Kohei; Sawai, Hideaki; Nakamura, Hiroaki; Samura, Osamu; Suzumori, Nobuhiro; Nakayama, Setsuko; Yamada, Takahiro; Ogawa, Masaki; Katagiri, Yukiko; Murotsuki, Jun; Okamoto, Yoko; Namba, Akira; Hamanoue, Haruka; Ogawa, Masanobu; Miura, Kiyonori; Izumi, Shunichiro; Kamei, Yoshimasa; Sago, Haruhiko

    2016-12-01

    To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. Among 931 fetuses with chromosome abnormalities, the total TOP rate was 75.1% (699/931). TOP rates were 89.3% (585/655) in autosomal aneuploidies and 40.8% (51/125) in sex chromosome aneuploidies. Trisomy 21 showed the highest TOP rate (93.8% [390/416]) followed by trisomy 18 (84.5% [163/193]) and trisomy 13 (71.9% [23/32]). Indications for karyotyping were related to a parental decision for TOP (p < 0.01): in cases of autosomal aneuploidy, with fetal abnormal ultrasound findings as the reference value, diagnoses made following positive results at non-invasive prenatal testing (adjusted odds ratio [OR]: 13.7, 95% confidence interval [CI] 4.07-45.9) and those because of advanced maternal age (adj. OR 2.91, 95% CI 1.15-7.35) were significantly more frequent. In Japan, pregnancies with fetal trisomy 21 are more likely to result in TOP when diagnosed in utero than any other chromosome anomaly. The indications for prenatal karyotyping strongly affect the decision to TOP. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  4. Social chromosome variants differentially affect queen determination and the survival of workers in the fire ant Solenopsis invicta.

    PubMed

    Buechel, Séverine D; Wurm, Yanick; Keller, Laurent

    2014-10-01

    Intraspecific variation in social organization is common, yet the underlying causes are rarely known. An exception is the fire ant Solenopsis invicta in which the existence of two distinct forms of social colony organization is under the control of the two variants of a pair of social chromosomes, SB and Sb. Colonies containing exclusively SB/SB workers accept only one single queen and she must be SB/SB. By contrast, when colonies contain more than 10% of SB/Sb workers, they accept several queens but only SB/Sb queens. The variants of the social chromosome are associated with several additional important phenotypic differences, including the size, fecundity and dispersal strategies of queens, aggressiveness of workers, and sperm count in males. However, little is known about whether social chromosome variants affect fitness in other life stages. Here, we perform experiments to determine whether differential selection occurs during development and in adult workers. We find evidence that the Sb variant of the social chromosome increases the likelihood of female brood to develop into queens and that adult SB/Sb workers, the workers that cull SB/SB queens, are overrepresented in comparison to SB/SB workers. This demonstrates that supergenes such as the social chromosome can have complex effects on phenotypes at various stages of development.

  5. X-linkage in bipolar affective illness. Perspectives on genetic heterogeneity, pedigree analysis and the X-chromosome map.

    PubMed

    Baron, M; Rainer, J D; Risch, N

    1981-06-01

    The search for genetic markers is a powerful strategy in psychiatric genetics. The present article examines four areas relevant to discrepancies among X-linkage studies in bipolar affective disorder. These are questions of ascertainment, analytic methods, the X-chromosome map and genetic heterogeneity. The following conclusions are reached: (a) Positive linkage findings cannot be attributed to ascertainment bias or association between affective illness and colorblindness. (b) The possibility that falsely positive linkage results were obtained by using inappropriate analytic methods is ruled out. (c) Reported linkages of bipolar illness to colorblind and G6PD loci are compatible with known map distances between X-chromosome loci. Linkage to the Xg antigen remains uncertain. (d) The discrepancy among the various data sets on affective illness and colorblindness is best explained by significant linkage heterogeneity among pedigrees informative for the two traits.

  6. Closely spaced tandem arrangement of AQP2, AQP5, and AQP6 genes in a 27-kilobase segment at chromosome locus 12q13.

    PubMed

    Ma, T; Yang, B; Umenishi, F; Verkman, A S

    1997-08-01

    The aquaporins (AQPs) are a family of water-transporting proteins that facilitate osmotically driven water movement across cell plasma membranes. Among the seven human aquaporins cloned to date (AQPs 0-6), genes encoding the four most closely related aquaporins (AQP0, AQP2, AQP5, and AQP6) have been mapped to chromosome band 12q13, suggesting an aquaporin family gene cluster at this locus. To construct a physical map and identify novel aquaporin gene members on this cluster, a human CEPH B yeast artificial chromosome (YAC) library was screened by PCR using primers derived from exon 4 of AQP2 and AQP0 genes. A YAC clone with 200 kb of human DNA was isolated and analyzed. Primary pulsed-field gel electrophoresis and Southern blot analysis indicated the presence of AQP2, AQP5, and AQP6 genes, but not AQP0. Restriction mapping and PCR analysis yielded a precise physical map in which the three aquaporin genes span only approximately 27 kb in the order, transcriptional orientation, and spacer length 5'-AQP2-5 kb spacer-AQP5-7 kb spacer-AQP6-3'.

  7. Intrinsic factors that can affect sensitivity to chromosome-aberration induction

    SciTech Connect

    Preston, R.J.

    1982-01-01

    The paper addresses the question, are there individuals who are hypersensitive, or are more likely to be hypersensitive, to the induction of chromosome aberrations by radiation and chemicals. Lymphocytes of persons heterozygous for xeroderma pigmentosum, ataxia telangiectasia, and Fauconi's anemia were subjected to chemical and/or ionizing radiations to determine their sensitivity to chromosome aberration induction. In the majority of cases the sensitivity was intermediate between that of normal individuals and homozygotes for these genes. (ACR)

  8. Differential replication dynamics for large and small Vibrio chromosomes affect gene dosage, expression and location

    PubMed Central

    Dryselius, Rikard; Izutsu, Kaori; Honda, Takeshi; Iida, Tetsuya

    2008-01-01

    Background Replication of bacterial chromosomes increases copy numbers of genes located near origins of replication relative to genes located near termini. Such differential gene dosage depends on replication rate, doubling time and chromosome size. Although little explored, differential gene dosage may influence both gene expression and location. For vibrios, a diverse family of fast growing gammaproteobacteria, gene dosage may be particularly important as they harbor two chromosomes of different size. Results Here we examined replication dynamics and gene dosage effects for the separate chromosomes of three Vibrio species. We also investigated locations for specific gene types within the genome. The results showed consistently larger gene dosage differences for the large chromosome which also initiated replication long before the small. Accordingly, large chromosome gene expression levels were generally higher and showed an influence from gene dosage. This was reflected by a higher abundance of growth essential and growth contributing genes of which many locate near the origin of replication. In contrast, small chromosome gene expression levels were low and appeared independent of gene dosage. Also, species specific genes are highly abundant and an over-representation of genes involved in transcription could explain its gene dosage independent expression. Conclusion Here we establish a link between replication dynamics and differential gene dosage on one hand and gene expression levels and the location of specific gene types on the other. For vibrios, this relationship appears connected to a polarisation of genetic content between its chromosomes, which may both contribute to and be enhanced by an improved adaptive capacity. PMID:19032792

  9. Collaborative Arrangements.

    ERIC Educational Resources Information Center

    Cota-Robles, Eugene; Doby, Winston

    Two conference papers describing various collaborative arrangements within the educational community among teachers, students and others are presented in this document. The first paper, "Successful Collaborations" (Eugene Cota-Robles), describes the following projects in California that seek to forge collaborations to improve the…

  10. Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes

    SciTech Connect

    Kremer, B.; Theilmann, J.; Spence, N.

    1995-08-01

    A total of 254 affected parent-child pairs with Huntington disease (HD) and 440 parent-child pairs with CAG size in the normal range were assessed to determine the nature and frequency of intergenerational CAG changes in the HD gene. Intergenerational CAG changes are extremely rare (3/440 [0.68%]) on normal chromosomes. In contrast, on HD chromosomes, changes in CAG size occur in {approximately}70% of meioses on HD chromosomes, with expansions accounting for 73% of these changes. These intergenerational CAG changes make a significant but minor contribution to changes in age at onset (r{sup 2}=.19). The size of the CAG repeat influenced larger intergenerational expansions (>7 CAG repeats), but the likelihood of smaller expansions or contractions was not influenced by CAG size. Large expansions (>7 CAG repeats) occur almost exclusively through paternal transmission (0.96%; P<10{sub -7}), while offspring of affected mothers are more likely to show no change (P=.01) or contractions in CAG size (P=.002). This study demonstrates that sex of the transmitting parent is the major determinant for CAG intergenerational changes in the HD gene. Similar paternal sex effects are seen in the evolution of new mutations for HD from intermediate alleles and for large expansions on affected chromosomes. Affected mothers almost never transmit a significantly expanded CAG repeat, despite the fact that many have similar large-sized alleles, compared with affected fathers. The sex-dependent effects of major expansion and contractions of the CAG repeat in the HD gene implicate different effects of gametogenesis, in males versus females, on intergenerational CAG repeat stability. 22 refs., 4 figs., 3 tabs.

  11. Formation of Nup98-containing nuclear bodies in HeLa sublines is linked to genomic rearrangements affecting chromosome 11.

    PubMed

    Romana, Serge; Radford-Weiss, Isabelle; Lapierre, Jean-Michel; Doye, Valérie; Geoffroy, Marie-Claude

    2016-09-01

    Nup98 is an important component of the nuclear pore complex (NPC) and also a rare but recurrent target for chromosomal translocation in leukaemogenesis. Nup98 contains multiple cohesive Gly-Leu-Phe-Gly (GLFG) repeats that are critical notably for the formation of intranuclear GLFG bodies. Previous studies have reported the existence of GLFG bodies in cells overexpressing exogenous Nup98 or in a HeLa subline (HeLa-C) expressing an unusual elevated amount of endogenous Nup98. Here, we have analysed the presence of Nup98-containing bodies in several human cell lines. We found that HEp-2, another HeLa subline, contains GLFG bodies that are distinct from those identified in HeLa-C. Rapid amplification of cDNA ends (RACE) revealed that HEp-2 cells express additional truncated forms of Nup98 fused to a non-coding region of chromosome 11q22.1. Cytogenetic analyses using FISH and array-CGH further revealed chromosomal rearrangements that were distinct from those observed in leukaemic cells. Indeed, HEp-2 cells feature a massive amplification of juxtaposed NUP98 and 11q22.1 loci on a chromosome marker derived from chromosome 3. Unexpectedly, minor co-amplifications of NUP98 and 11q22.1 loci were also observed in other HeLa sublines, but on rearranged chromosomes 11. Altogether, this study reveals that distinct genomic rearrangements affecting NUP98 are associated with the formation of GLFG bodies in specific HeLa sublines.

  12. An unusual gene arrangement for the putative chromosome replication origin and circadian expression of dnaN in Synechococcus sp. strain PCC 7942.

    PubMed

    Liu, Y; Tsinoremas, N F

    1996-06-12

    In eubacteria, the clustering of DnaA boxes around the dnaN (beta subunit of DNA polymerase III) and dnaA genes usually defines the chromosome replication origin (oriC). In this study, the dnaN locus from the cyanobacterium Synechococcus sp. strain PCC 7942 was sequenced. The gene order in this region is cbbZp-dnaN-orf288-purL-purF which contrasts with other eubacteria. A cluster of eleven DnaA boxes (consensus sequence: TTTTCCACA) was found in the intergenic region between dnaN and cbbZp. We also found a 41-bp sequence within this region that is 80% identical to the proposed oriC of Streptomyces coelicolor. Therefore, we propose that this intergenic region may serve as an oriC in Synechococcus. Using bacterial luciferase as a reporter, we also showed that dnaN is rhythmically expressed, suggesting that DNA replication could be under circadian control in this organism.

  13. Duplication 15q14 --> pter: a rare chromosomal abnormality underlying bipolar affective disorder.

    PubMed

    Reif, Andreas; Kress, Wolfgang; Wurm, Karl; Benninghoff, Jens; Pfuhlmann, Bruno; Lesch, Klaus-Peter

    2004-05-01

    We have followed up a patient with 8q24.2 --> qter and 15q14 --> pter duplication due to a maternal reciprocal translocation, a condition related to Prader-Willi Syndrome. Apart from dysmorphic features, the patient suffered from recurring episodes of bipolar psychosis. Interestingly, PET scanning revealed revealed prominent bilateral hypometabolism in the frontal, temporal, and parietal lobes as well as in the cerebellum. Possible implications of this rare chromosomal abnormality with regards to psychiatric disorders are discussed, with emphasis on recent evidence suggesting chromosome 15q13-15 as a susceptibility locus for psychosis.

  14. Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

    PubMed Central

    Niranjan, Tejasvi S.; Skinner, Cindy; May, Melanie; Turner, Tychele; Rose, Rebecca; Stevenson, Roger; Schwartz, Charles E.; Wang, Tao

    2015-01-01

    X-linked Intellectual Disability (XLID) is a group of genetically heterogeneous disorders caused by mutations in genes on the X chromosome. Deleterious mutations in ~10% of X chromosome genes are implicated in causing XLID disorders in ~50% of known and suspected XLID families. The remaining XLID genes are expected to be rare and even private to individual families. To systematically identify these XLID genes, we sequenced the X chromosome exome (X-exome) in 56 well-established XLID families (a single affected male from 30 families and two affected males from 26 families) using an Agilent SureSelect X-exome kit and the Illumina HiSeq 2000 platform. To enrich for disease-causing mutations, we first utilized variant filters based on dbSNP, the male-restricted portions of the 1000 Genomes Project, or the Exome Variant Server datasets. However, these databases present limitations as automatic filters for enrichment of XLID genes. We therefore developed and optimized a strategy that uses a cohort of affected male kindred pairs and an additional small cohort of affected unrelated males to enrich for potentially pathological variants and to remove neutral variants. This strategy, which we refer to as Affected Kindred/Cross-Cohort Analysis, achieves a substantial enrichment for potentially pathological variants in known XLID genes compared to variant filters from public reference databases, and it has identified novel XLID candidate genes. We conclude that Affected Kindred/Cross-Cohort Analysis can effectively enrich for disease-causing genes in rare, Mendelian disorders, and that public reference databases can be used effectively, but cautiously, as automatic filters for X-linked disorders. PMID:25679214

  15. Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.

    PubMed

    Niranjan, Tejasvi S; Skinner, Cindy; May, Melanie; Turner, Tychele; Rose, Rebecca; Stevenson, Roger; Schwartz, Charles E; Wang, Tao

    2015-01-01

    X-linked Intellectual Disability (XLID) is a group of genetically heterogeneous disorders caused by mutations in genes on the X chromosome. Deleterious mutations in ~10% of X chromosome genes are implicated in causing XLID disorders in ~50% of known and suspected XLID families. The remaining XLID genes are expected to be rare and even private to individual families. To systematically identify these XLID genes, we sequenced the X chromosome exome (X-exome) in 56 well-established XLID families (a single affected male from 30 families and two affected males from 26 families) using an Agilent SureSelect X-exome kit and the Illumina HiSeq 2000 platform. To enrich for disease-causing mutations, we first utilized variant filters based on dbSNP, the male-restricted portions of the 1000 Genomes Project, or the Exome Variant Server datasets. However, these databases present limitations as automatic filters for enrichment of XLID genes. We therefore developed and optimized a strategy that uses a cohort of affected male kindred pairs and an additional small cohort of affected unrelated males to enrich for potentially pathological variants and to remove neutral variants. This strategy, which we refer to as Affected Kindred/Cross-Cohort Analysis, achieves a substantial enrichment for potentially pathological variants in known XLID genes compared to variant filters from public reference databases, and it has identified novel XLID candidate genes. We conclude that Affected Kindred/Cross-Cohort Analysis can effectively enrich for disease-causing genes in rare, Mendelian disorders, and that public reference databases can be used effectively, but cautiously, as automatic filters for X-linked disorders.

  16. Evidence that sex chromosome genes affect sexual differentiation of female sexual behavior.

    PubMed

    Grgurevic, Neza; Büdefeld, Tomaz; Spanic, Tanja; Tobet, Stuart A; Majdic, Gregor

    2012-05-01

    Female receptivity including the immobile hormone-dependent lordosis posture is essential for successful reproduction in rodents. It is well documented that lordosis is organized during the perinatal period when the actions of androgens decrease the males' ability to display this behavior in adulthood. Conversely the absence of androgens, and the presence of low levels of prepubertal estrogens, preserve circuitry that regulates this behavior in females. The current study set out to determine whether sex chromosomal genes are involved in the differentiation of this behavior. An agonadal mouse model was used to test this hypothesis. The SF-1 gene (Nr5a1) is required for development of gonads and adrenal glands, and knockout mice are consequently not exposed to endogenous gonadal steroids. Thus contributions of sex chromosome genes can be disassociated from the actions of estrogens. Use of this model reveals a direct genetic contribution from sex chromosomes in the display of lordosis and other female-typical sexual behavior patterns. It is likely that the concentrations of gonadal steroids present during normal male development modify the actions of sex chromosome genes on the potential to display female sexual behavior. Copyright © 2012 Elsevier Inc. All rights reserved.

  17. CDE-1 affects chromosome segregation through uridylation of CSR-1-bound siRNAs.

    PubMed

    van Wolfswinkel, Josien C; Claycomb, Julie M; Batista, Pedro J; Mello, Craig C; Berezikov, Eugene; Ketting, René F

    2009-10-02

    We have studied the function of a conserved germline-specific nucleotidyltransferase protein, CDE-1, in RNAi and chromosome segregation in C. elegans. CDE-1 localizes specifically to mitotic chromosomes in embryos. This localization requires the RdRP EGO-1, which physically interacts with CDE-1, and the Argonaute protein CSR-1. We found that CDE-1 is required for the uridylation of CSR-1 bound siRNAs, and that in the absence of CDE-1 these siRNAs accumulate to inappropriate levels, accompanied by defects in both meiotic and mitotic chromosome segregation. Elevated siRNA levels are associated with erroneous gene silencing, most likely through the inappropriate loading of CSR-1 siRNAs into other Argonaute proteins. We propose a model in which CDE-1 restricts specific EGO-1-generated siRNAs to the CSR-1 mediated, chromosome associated RNAi pathway, thus separating it from other endogenous RNAi pathways. The conserved nature of CDE-1 suggests that similar sorting mechanisms may operate in other animals, including mammals.

  18. Chromosome 18 markers: Linked or not linked to bipolar affective disorders in the Old Order Amish? A reply to Gershon et al.

    SciTech Connect

    Pauls, D.L.; Ott, J.; Fann, C.S.J.; Paul, S.M.

    1996-06-01

    We appreciate the careful review of our paper by examining linkage of bipolar affective disorder (BAD) to markers on chromosome 18. These authors have raised several issues concerning our article and specifically challenge our conclusion concerning the presence or absence of a major susceptibility locus for BAD on chromosome 18 in the Old Order Amish sample. 9 refs.

  19. Seal arrangement

    DOEpatents

    Lundholm, Gunnar

    1987-01-01

    A seal arrangement is provided for preventing gas leakage along a reciprocating piston rod or other reciprocating member passing through a wall which separates a high pressure gas chmber and a low pressure gas chamber. Liquid lubricant is applied to the lower pressure side of a sealing gland surrounding the piston rod to prevent the escape of gas between the rod and the gland. The sealing gland is radially forced against the piston rod by action of a plurality of axially stacked O-rings influenced by an axially acting spring as well as pressure from the gas.

  20. Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome

    SciTech Connect

    Paglinauan, C.; Haines, J.L.; Del Bono, E.A.; Schuman, J.; Stawski, S.; Wiggs, J.L.

    1995-05-01

    The pigment-dispersion syndrome is a form of open-angle glaucoma that usually affects individuals in the first 3 decades of life. In addition to the typical optic-nerve degeneration seen in all types of glaucoma, the pigment-dispersion syndrome is characterized by distinctive clinical features including the deposition of pigment granules from the iris epithelium on a variety of ocular structures including the trabecular meshwork. Frequently this disorder affects young myopic individuals. In the early stages of the disease, affected individuals may have clinical evidence of dispersed pigment without an associated elevation of intraocular pressure and optic-nerve degeneration. However, as the disease process progresses, many affected individuals ({approximately}50%) will develop elevated intraocular pressure and degeneration of the optic nerve, causing a permanent loss of sight. The pigment-dispersion syndrome shares several clinical features with the form of autosomal dominant juvenile open-angle glaucoma that recently has been mapped to the 1q21-q31 region of chromosome 1. Our results indicate that the pigment-dispersion syndrome, a form of glaucoma that may also affect the juvenile population, is genetically unrelated to the autosomal dominant form of juvenile glaucoma caused by a defect in a gene located in the 1q21-q31 region of chromosome 1. 15 refs., 2 figs., 1 tab.

  1. Spatial organization of chromatin domains and compartments in single chromosomes.

    PubMed

    Wang, Siyuan; Su, Jun-Han; Beliveau, Brian J; Bintu, Bogdan; Moffitt, Jeffrey R; Wu, Chao-ting; Zhuang, Xiaowei

    2016-08-05

    The spatial organization of chromatin critically affects genome function. Recent chromosome-conformation-capture studies have revealed topologically associating domains (TADs) as a conserved feature of chromatin organization, but how TADs are spatially organized in individual chromosomes remains unknown. Here, we developed an imaging method for mapping the spatial positions of numerous genomic regions along individual chromosomes and traced the positions of TADs in human interphase autosomes and X chromosomes. We observed that chromosome folding deviates from the ideal fractal-globule model at large length scales and that TADs are largely organized into two compartments spatially arranged in a polarized manner in individual chromosomes. Active and inactive X chromosomes adopt different folding and compartmentalization configurations. These results suggest that the spatial organization of chromatin domains can change in response to regulation.

  2. Telomere-interactive agents affect proliferation rates and induce chromosomal destabilization in sea urchin embryos.

    PubMed

    Izbicka, E; Nishioka, D; Marcell, V; Raymond, E; Davidson, K K; Lawrence, R A; Wheelhouse, R T; Hurley, L H; Wu, R S; Von Hoff, D D

    1999-08-01

    Cationic porphyrins, which interact with guanine quadruplex (G4) telomeric folds, inhibit telomerase activity in human tumor cells. In this study, we have further examined effects of porphyrins and other telomere- and telomerase-interactive agents on proliferation rates and chromosome stability in a novel in vivo model, developing sea urchin embryos. We studied two porphyrins: (i) TMPyP4, a potent telomerase inhibitor; and (ii) TMPyP2, an isomer of TMPyP4 and an inefficient telomerase inhibitor, azidothymine (AZT), the reverse transcriptase inhibitor, antisense phosphorothioate oligonucleotide to telomerase RNA (TAG6) and a control scrambled sequence (ODN). TMPyP4, AZT and TAG6 (but not TMPyP2 or ODN) decreased the rates of cell proliferation and increased the percentage of cells trapped in mitosis. Nuclear localization of TAG6, but not of ODN, was demonstrated with 5'-fluoresceinated analogs of TAG6 and ODN. Formation of elongated chromosomes incapable of separating in anaphase, induced by TMPyP4, AZT and TAG6, closely resembled phenotypes resulting from telomerase template mutation or dominant negative TRF2 allele. Our data suggest that G4-interactive agents exert their antiproliferative effects via chromosomal destabilization and warrant their further development as valuable anticancer tools.

  3. Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus

    SciTech Connect

    Nikali, K.; Suomalainen, A.; Koskinen, T.; Peltonen, L.; Terwilliger, J.; Weissenbach, J.

    1995-05-01

    Infantile-onset spinocerebellar ataxia (IOSCA) is an autosomal recessively inherited progressive neurological disorder of unknown etiology. This ataxia, identified so far only in the genetically isolated Finnish population, does not share gene locus with any of the previously identified hereditary ataxias, and a random mapping approach was adopted to assign the IOSCA locus. Based on the assumption of one founder mutation, a primary screening of the genome was performed using samples from just four affected individuals in two consanguineous pedigrees. The identification of a shared chromosomal region in these four patients provided the first evidence that the IOSCA gene locus is on chromosome 10q23.3-q24.1, which was confirmed by conventional linkage analysis in the complete family material. Strong linkage disequilibrium observed between IOSCA and the linked markers was utilized to define accurately the critical chromosomal region. The results showed the power of linkage disequilibrium in the locus assignment of diseases with very limited family materials. 30 refs., 3 figs., 2 tabs.

  4. Arabidopsis PTD is required for type I crossover formation and affects recombination frequency in two different chromosomal regions.

    PubMed

    Lu, Pingli; Wijeratne, Asela J; Wang, Zhengjia; Copenhaver, Gregory P; Ma, Hong

    2014-03-20

    In eukaryotes, crossovers together with sister chromatid cohesion maintain physical association between homologous chromosomes, ensuring accurate chromosome segregation during meiosis I and resulting in exchange of genetic information between homologues. The Arabidopsis PTD (Parting Dancers) gene affects the level of meiotic crossover formation, but its functional relationships with other core meiotic genes, such as AtSPO11-1, AtRAD51, and AtMSH4, are unclear; whether PTD has other functions in meiosis is also unknown. To further analyze PTD function and to test for epistatic relationships, we compared the meiotic chromosome behaviors of Atspo11-1 ptd and Atrad51 ptd double mutants with the relevant single mutants. The results suggest that PTD functions downstream of AtSPO11-1 and AtRAD51 in the meiotic recombination pathway. Furthermore, we found that meiotic defects in rck ptd and Atmsh4 ptd double mutants showed similar meiotic phenotypes to those of the relevant single mutants, providing genetic evidences for roles of PTD and RCK in the type I crossovers pathway. Moreover, we employed a pollen tetrad-based fluorescence method and found that the meiotic crossover frequencies in two genetic intervals were significantly reduced from 6.63% and 22.26% in wild-type to 1.14% and 6.36%, respectively, in the ptd-2 mutant. These results revealed new aspects of PTD function in meiotic crossover formation.

  5. Effect of parameter choice in root water uptake models - the arrangement of root hydraulic properties within the root architecture affects dynamics and efficiency of root water uptake

    NASA Astrophysics Data System (ADS)

    Bechmann, M.; Schneider, C.; Carminati, A.; Vetterlein, D.; Attinger, S.; Hildebrandt, A.

    2014-10-01

    Detailed three-dimensional models of root water uptake have become increasingly popular for investigating the process of root water uptake. However, they suffer from a lack of information on important parameters, particularly on the spatial distribution of root axial and radial conductivities, which vary greatly along a root system. In this paper we explore how the arrangement of those root hydraulic properties and branching within the root system affects modelled uptake dynamics, xylem water potential and the efficiency of root water uptake. We first apply a simple model to illustrate the mechanisms at the scale of single roots. By using two efficiency indices based on (i) the collar xylem potential ("effort") and (ii) the integral amount of unstressed root water uptake ("water yield"), we show that an optimal root length emerges, depending on the ratio between roots axial and radial conductivity. Young roots with high capacity for radial uptake are only efficient when they are short. Branching, in combination with mature transport roots, enables soil exploration and substantially increases active young root length at low collar potentials. Second, we investigate how this shapes uptake dynamics at the plant scale using a comprehensive three-dimensional root water uptake model. Plant-scale dynamics, such as the average uptake depth of entire root systems, were only minimally influenced by the hydraulic parameterization. However, other factors such as hydraulic redistribution, collar potential, internal redistribution patterns and instantaneous uptake depth depended strongly on the arrangement on the arrangement of root hydraulic properties. Root systems were most efficient when assembled of different root types, allowing for separation of root function in uptake (numerous short apical young roots) and transport (longer mature roots). Modelling results became similar when this heterogeneity was accounted for to some degree (i.e. if the root systems contained between

  6. Parameterizing complex root water uptake models - the arrangement of root hydraulic properties within the root architecture affects dynamics and efficiency of root water uptake

    NASA Astrophysics Data System (ADS)

    Bechmann, M.; Schneider, C.; Carminati, A.; Vetterlein, D.; Attinger, S.; Hildebrandt, A.

    2014-01-01

    Detailed three-dimensional models of root water uptake have become increasingly popular for investigating the process of root water uptake. However they suffer from a lack of information in important parameters, especially distribution of root hydraulic properties. In this paper we explore the role that arrangement of root hydraulic properties and root system topology play for modelled uptake dynamics. We apply microscopic models of single root structures to investigate the mechanisms shaping uptake dynamics and demonstrate the effects in a complex three dimensional root water uptake model. We introduce two efficiency indices, for (a) overall plant resistance and (b) water stress and show that an appropriate arrangement of root hydraulic properties can increase modelled efficiency of root water uptake in single roots, branched roots and entire root systems. The average uptake depth of the complete root system was not influenced by parameterization. However, other factors such as evolution of collar potential, which is related to the plant resistance, root bleeding and redistribution patterns were strongly affected by the parameterization. Root systems are more efficient when they are assembled of different root types, allowing for separation of root function in uptake (short young) roots and transport (longer mature) roots. Results become similar, as soon as this composition is accounted for to some degree (between 40 and 80% of young uptake roots). Overall resistance to root water uptake was decreased up to 40% and total transpiration was increased up to 25% in these composed root systems, compared to homogenous root systems. Also, one parameterization (homogenous young root system) was characterized by excessive bleeding (hydraulic lift), which was accompanied by lowest efficiency. We conclude that heterogeneity of root hydraulic properties is a critical component of complex three dimensional uptake models. Efficiency measures together with information on

  7. A common variant on chromosome 9p21 affects the risk of myocardial infarction.

    PubMed

    Helgadottir, Anna; Thorleifsson, Gudmar; Manolescu, Andrei; Gretarsdottir, Solveig; Blondal, Thorarinn; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Sigurdsson, Asgeir; Baker, Adam; Palsson, Arnar; Masson, Gisli; Gudbjartsson, Daniel F; Magnusson, Kristinn P; Andersen, Karl; Levey, Allan I; Backman, Valgerdur M; Matthiasdottir, Sigurborg; Jonsdottir, Thorbjorg; Palsson, Stefan; Einarsdottir, Helga; Gunnarsdottir, Steinunn; Gylfason, Arnaldur; Vaccarino, Viola; Hooper, W Craig; Reilly, Muredach P; Granger, Christopher B; Austin, Harland; Rader, Daniel J; Shah, Svati H; Quyyumi, Arshed A; Gulcher, Jeffrey R; Thorgeirsson, Gudmundur; Thorsteinsdottir, Unnur; Kong, Augustine; Stefansson, Kari

    2007-06-08

    The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction (MI) and a common sequence variant on chromosome 9p21. This study included a total of 4587 cases and 12,767 controls. The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with the disease with high significance. Approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardial infarction is 1.64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases.

  8. Cloning a balanced t(9;11)(p24;q23.1) chromosomal translocation breakpoint segregating with bipolar affective disorder in a small pedigree

    SciTech Connect

    Duggan, D.J.; Baysal, B.E.; Gollin, S.M.

    1994-09-01

    A small multigenerational pedigree was previously identified in which a balanced 9;11 chromosomal translocation was cosegregating with bipolar affective disorder. We hypothesize that genes or gene regulatory sequences disrupted by the translocation are contributing to bipolar affective disorder in a dominant fashion. The general strategy involves (1) using somatic cell hybrids containing the derivative 9 or 11 chromosomes to identify the closest chromosome 9 and 11 flanking markers, (2) using the nearest markers as PCR and hybridization probes to isolate both normal DNA (YAC) and patient DNA (cosmid) adjacent to and incorporating the translocation breakpoint, and (3) identifying expressed sequences in the genomic DNA that may be disrupted by the translocation. From a fusion of the translocation patient cell line and a recipient hamster cell line, somatic cell hybrids were isolated which contain either the human derivative 9 or derivative 11 chromosome. Using PCR-based STS assays with these hybrids, the location of the translocation breakpoint was localized to an estimated 500 kb region at chromosome 11 band q23.1 and a 1 cM region in 9 band p24 (more telomeric than originally reported). From a large set of CEPH and Roswell Park yeast artificial chromosomes (YACs), six chromosome 11 YACs spanning the 11q23.1 breakpoint have now been identified. A combination of pulsed field gel eletrophoresis and YAC mapping has narrowed the chromosome 11 region to less than 430 kb. Current efforts are focused on generating new chromosome 11 probes within the flanking markers, mapping these probes back to the der(9) and der(11) containing hybrids and the chromosome 11 YAC mapping panel. As the region is physically narrowed, we will identify candidate genes whose expression may be altered by this t(9:11) translocation.

  9. Telomerase Deficiency Affects the Formation of Chromosomal Translocations by Homologous Recombination in Saccharomyces cerevisiae

    PubMed Central

    Meyer, Damon H.; Bailis, Adam M.

    2008-01-01

    Telomerase is a ribonucleoprotein complex required for the replication and protection of telomeric DNA in eukaryotes. Cells lacking telomerase undergo a progressive loss of telomeric DNA that results in loss of viability and a concomitant increase in genome instability. We have used budding yeast to investigate the relationship between telomerase deficiency and the generation of chromosomal translocations, a common characteristic of cancer cells. Telomerase deficiency increased the rate of formation of spontaneous translocations by homologous recombination involving telomere proximal sequences during crisis. However, telomerase deficiency also decreased the frequency of translocation formation following multiple HO-endonuclease catalyzed DNA double-strand breaks at telomere proximal or distal sequences before, during and after crisis. This decrease correlated with a sequestration of the central homologous recombination factor, Rad52, to telomeres determined by chromatin immuno-precipitation. This suggests that telomerase deficiency results in the sequestration of Rad52 to telomeres, limiting the capacity of the cell to repair double-strand breaks throughout the genome. Increased spontaneous translocation formation in telomerase-deficient yeast cells undergoing crisis is consistent with the increased incidence of cancer in elderly humans, as the majority of our cells lack telomerase. Decreased translocation formation by recombinational repair of double-strand breaks in telomerase-deficient yeast suggests that the reemergence of telomerase expression observed in many human tumors may further stimulate genome rearrangement. Thus, telomerase may exert a substantial effect on global genome stability, which may bear significantly on the appearance and progression of cancer in humans. PMID:18830407

  10. Assembling the Setaria italica L. Beauv. genome into nine chromosomes and insights into regions affecting growth and drought tolerance

    PubMed Central

    Tsai, Kevin J.; Lu, Mei-Yeh Jade; Yang, Kai-Jung; Li, Mengyun; Teng, Yuchuan; Chen, Shihmay; Ku, Maurice S. B.; Li, Wen-Hsiung

    2016-01-01

    The diploid C4 plant foxtail millet (Setaria italica L. Beauv.) is an important crop in many parts of Africa and Asia for the vast consumption of its grain and ability to grow in harsh environments, but remains understudied in terms of complete genomic architecture. To date, there have been only two genome assembly and annotation efforts with neither assembly reaching over 86% of the estimated genome size. We have combined de novo assembly with custom reference-guided improvements on a popular cultivar of foxtail millet and have achieved a genome assembly of 477 Mbp in length, which represents over 97% of the estimated 490 Mbp. The assembly anchors over 98% of the predicted genes to the nine assembled nuclear chromosomes and contains more functional annotation gene models than previous assemblies. Our annotation has identified a large number of unique gene ontology terms related to metabolic activities, a region of chromosome 9 with several growth factor proteins, and regions syntenic with pearl millet or maize genomic regions that have been previously shown to affect growth. The new assembly and annotation for this important species can be used for detailed investigation and future innovations in growth for millet and other grains. PMID:27734962

  11. A gene affecting Wallerian nerve degeneration maps distally on mouse chromosome 4.

    PubMed Central

    Lyon, M F; Ogunkolade, B W; Brown, M C; Atherton, D J; Perry, V H

    1993-01-01

    When a nerve axon is cut or crushed, the nerve fibers in the distal part of the axon, separated from the cell body, undergo a form of spontaneous degeneration, known as Wallerian degeneration. A substrain of the mouse inbred strain C57BL, known as C57BL/Ola, carries a mutant form of a gene involved in Wallerian degeneration in the peripheral and central nervous systems, and in retrograde degeneration of retinal ganglion cells. Wallerian degeneration in this substrain is abnormally slow. Previously the defect had been shown to be due to an autosomal dominant gene. The locus has been given the name and symbol Wallerian degeneration Wld, with the mutant allele Wlds (Wallerian degeneration-slow). The Wld locus has now been mapped, by using conventional and molecular markers, to the distal end of chromosome 4, near the locus of pronatriodilatin (Pnd). The order of loci (with recombination distances in centimorgans, cM) is cen-D4Mit11-8.9 +/- 1.7 cM-Fuca-2.5 +/- 0.93 cM-Akp-2-3.2 +/- 1.1 cM-D4Mit48-3.5 +/- 1.1 cM-(Wld, Pnd, D4Mit49)-0.71 +/- 0.50 cM-(Eno-1, D4Mit33)-1.4 +/- 0.70 cM-D4Mit42-2.5 +/- 0.93 cM-D4Smh6b. The information on the position of the Wld locus should be valuable in further characterization of this gene involved in nerve degeneration and regeneration. PMID:8415768

  12. A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus.

    PubMed Central

    Aita, V M; Liu, J; Knowles, J A; Terwilliger, J D; Baltazar, R; Grunn, A; Loth, J E; Kanyas, K; Lerer, B; Endicott, J; Wang, Z; Penchaszadeh, G; Gilliam, T C; Baron, M

    1999-01-01

    Previously, we demonstrated evidence of linkage to bipolar affective disorder (BP) in a single large, multigenerational family with a LOD score of 3.41 at the PFKL locus on chromosome 21q22.3. Additional families showed little support for linkage to PFKL under homogeneity or heterogeneity, in that study. We have expanded on that analysis, with 31 microsatellite markers at an average marker spacing of affecteds-only" method. As such, our results are based solely on genetic information from affected individuals, without assumptions about the disease-locus genotypes of the unaffecteds. Furthermore, for ease of comparison, this study was performed with the same approach as a 10-cM genome scan for BP loci, the results of which will be reported elsewhere. PMID:9915960

  13. Bipolar spindle attachments affect redistributions of ZW10, a Drosophila centromere/kinetochore component required for accurate chromosome segregation

    PubMed Central

    1996-01-01

    Previous efforts have shown that mutations in the Drosophila ZW10 gene cause massive chromosome missegregation during mitotic divisions in several tissues. Here we demonstrate that mutations in ZW10 also disrupt chromosome behavior in male meiosis I and meiosis II, indicating that ZW10 function is common to both equational and reductional divisions. Divisions are apparently normal before anaphase onset, but ZW10 mutants exhibit lagging chromosomes and irregular chromosome segregation at anaphase. Chromosome missegregation during meiosis I of these mutants is not caused by precocious separation of sister chromatids, but rather the nondisjunction of homologs. ZW10 is first visible during prometaphase, where it localizes to the kinetochores of the bivalent chromosomes (during meiosis I) or to the sister kinetochores of dyads (during meiosis II). During metaphase of both divisions, ZW10 appears to move from the kinetochores and to spread toward the poles along what appear to be kinetochore microtubules. Redistributions of ZW10 at metaphase require bipolar attachments of individual chromosomes or paired bivalents to the spindle. At the onset of anaphase I or anaphase II, ZW10 rapidly relocalizes to the kinetochore regions of the separating chromosomes. In other mutant backgrounds in which chromosomes lag during anaphase, the presence or absence of ZW10 at a particular kinetochore predicts whether or not the chromosome moves appropriately to the spindle poles. We propose that ZW10 acts as part of, or immediately downstream of, a tension-sensing mechanism that regulates chromosome separation or movement at anaphase onset. PMID:8794856

  14. Identification of Chromosome Locations of Genes Affecting pre-Harvest Sprouting and Seed Dormancy using Chromosome Substitution Lines in Tetraploid Wheat (Triticum turgidum L.)

    USDA-ARS?s Scientific Manuscript database

    Seed dormancy, the main factor contributing to pre-harvest sprouting (PHS) resistance, is a complex trait and strongly influenced by environmental growth conditions. In this study, three sets of single chromosome substitution lines, including 37 genotypes, in a durum wheat (Triticum turgidum var. du...

  15. Bovine chromosomal regions affecting rheological traits in rennet-induced skim milk gels.

    PubMed

    Gregersen, V R; Gustavsson, F; Glantz, M; Christensen, O F; Stålhammar, H; Andrén, A; Lindmark-Månsson, H; Poulsen, N A; Larsen, L B; Paulsson, M; Bendixen, C

    2015-02-01

    Optimizing cheese yield and quality is of central importance to cheese manufacturing. The yield is associated with the time it takes before the gel has an optimal consistency for further processing, and it is well known that gel formation differs between individual milk samples. By identifying genomic regions affecting traits related to rennet-induced gelation, the aim of this study was to identify potential candidate genes affecting these traits. Hence, rennet-induced gelation, including rennet coagulation time, gel strength, and yield stress, was measured in skim milk samples collected from 379 animals of the Swedish Red breed using low-amplitude oscillation measurements. All animals had genotypes for almost 621,000 segregating single nucleotide polymorphisms (SNP), identified using the Bovine HD SNPChip (Illumina Inc., San Diego, CA). The genome was scanned for associations, haplotypes based on SNP sets comprising highly associated SNP were inferred, and the effects of the 2 most common haplotypes within each region were analyzed using mixed models. Even though the number of animals was relatively small, a total of 21 regions were identified, with 4 regions showing association with more than one trait. A major quantitative trait locus for all traits was identified around the casein cluster explaining between 9.3 to 15.2% of the phenotypic variation of the different traits. In addition, 3 other possible candidate genes were identified; that is, UDP-N-acetyl-α-d-galactosamine:polypeptide N-acetylgalactosaminyl-transferase 1 (GALNT1), playing a role in O-glycosylation of κ-casein, and 2 cathepsins, CTSZ and CTSC, possibly involved in proteolysis of milk proteins. We have shown that other genes than the casein genes themselves may be involved in the regulation of gelation traits. However, additional analysis is needed to confirm these results. To our knowledge, this is the first study identifying quantitative trait loci affecting rennet-induced gelation of skim

  16. Initial report of a genome search for the affective disorder predisposition gene in the Old Order Amish pedigrees: Chromosomes 1 and 11

    SciTech Connect

    Gerhard, D.S.; Bland, S.D.; LaBuda, M.C.

    1994-12-15

    Family data have suggested that some forms of major affective disorder are genetic. Certain of the Old Order Amish pedigrees have a familial form of the disease. In this report we present the results of genetic analyses under autosomal dominant mode of transmission with reduce penetrance and three different disease hierarchies. The pedigrees were genotyped with 28 markers from chromosome 1 and 23 markers from chromosomes 11. None of the markers result in a significantly positive lod score. 49 refs., 1 fig., 4 tabs.

  17. Unique clustering genes in the bacterial chromosome affecting the type-III secretion of enterohaemorrhagic Escherichia coli.

    PubMed

    Lin, I-Ting; Chiou, Yi-Ming; Liang, Yen-Chia; Lin, Ching-Nan; Sun, Wei-Sheng W; Li, Shiaowen; Chang, Chuan-Hsiung; Syu, Wan-Jr; Chen, Jenn-Wei

    2016-10-01

    Bioinformatics analysis was used to search for unknown genes that might influence the phenotypic presentations of enterohaemorrhagic Escherichia coli (EHEC). By so doing and using the known genomic data from EHEC O157  : H7 and K-12, it has been deduced that genes Z4863 to Z4866 of EHEC do not exist in K-12 strains. These four gene sequences have low degrees of homology (18-40 % amino acid identities) to a set of genes in K-12, which have been known to encode fatty acid biosynthesis enzymes. We referred these four consecutive genes as a fasyn cluster and found that deletion of fasyn from EHEC resulted in a defective type-III secretion (T3S). This deletion apparently did not decrease the amounts of the T3S proteins ectopically expressed from plasmids. Examination of the corresponding mRNAs by real-time PCR revealed that the mRNAs readily decreased in the fasyn-deleted mutant and this suppressive effect on the mRNA levels appeared to spread across all lee operons. Complementation with fasyn reverted the T3S-deficient phenotype. Furthermore, this reversion was also seen when the mutant was supplemented with locus of enterocyte effacement activators (Ler or GrlA). Thus, these unique clustering genes located apart from locus of enterocyte effacement on the bacterial chromosome also play a role in affecting T3S of EHEC.

  18. Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy.

    PubMed

    Coci, Emanuele G; Auhuber, Andrea; Langenbach, Anna; Mrasek, Kristin; Riedel, Joachim; Leenen, Andreas; Lücke, Thomas; Liehr, Thomas

    2017-01-01

    Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth. The genetic analysis revealed 2 different unbalanced translocations t(10;22)(q26.13;q13.32) of genetic material between the long arms of chromosomes 10 and 22, deriving from a maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in 2 patients and the simultaneous trisomy distal q10 and monosomy distal q22 in 1 patient, respectively. To the best of our knowledge, we here describe for the first time a causal association between an unbalanced translocation t(10;22) affecting the long arms of both chromosomes 10 and 22 and a very severe neurodevelopmental delay in 3 siblings. © 2017 S. Karger AG, Basel.

  19. Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

    SciTech Connect

    Oestavik, R.E.; Eiklid, K.; Oerstavik, K.H.

    1995-03-27

    Wiedemann-Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has been assigned to 11p15, and genomic imprinting may play a part in the expression of one or more genes involved. Most cases are sporadic. An excess of female monozygotic twins discordant for WBS have been reported, and it has been proposed that this excess could be related to the process of X chromosome inactivation. We have therefore studied X chromosome inactivation in 13-year-old monozygotic twin girls who were discordant for WBS. In addition, both twins had Tourette syndrome. The twins were monochorionic and therefore the result of a late twinning process. This has also been the case in previously reported discordant twin pairs with information on placentation. X chromosome inactivation was determined in DNA from peripheral blood cells by PCR analysis at the androgen receptor locus. The affected twin had a completely skewed X inactivation, where the paternal allele was on the active X chromosome in all cells. The unaffected twin had a moderately skewed X inactivation in the same direction, whereas the mother had a random pattern. Further studies are necessary to establish a possible association between the expression of WBS and X chromosome inactivation. 18 refs., 2 figs., 1 tab.

  20. Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.

    PubMed

    Rajakulendran, Sanjeev; Roberts, Joanna; Koltzenburg, Martin; Hanna, Michael G; Stewart, Helen

    2013-11-01

    To describe the clinical and genetic findings in a family affected by neurodevelopmental delay and cerebellar ataxia. The affected mother and her two children underwent clinical assessments followed by radiological, neurophysiological and cytogenetic investigations. All three affected members exhibited varying degrees of delay in attaining motor and cognitive milestones, along with learning difficulties and cerebellar ataxia. All three harboured a new 670 kb deletion of chromosome 12q21. Two genes, KCNC2 and ATXN7L3B, lie within the deleted region. This family's complex phenotype is associated with a new chromosomal deletion, which suggests potential roles for the two genes, KCNC2 and ATXN7L3B, in human neurological disease.

  1. Oil fence arrangement

    SciTech Connect

    Muto, I.; Tatsuguchi, M.

    1984-01-10

    An oil fence arrangement for effectively preventing oil spills from spreading or diffusing over the surface of the sea. The arrangement is of a double wall construction and can fold into a small space.

  2. Over-expression of XIST, the Master Gene for X Chromosome Inactivation, in Females With Major Affective Disorders

    PubMed Central

    Ji, Baohu; Higa, Kerin K.; Kelsoe, John R.; Zhou, Xianjin

    2015-01-01

    Background Psychiatric disorders are common mental disorders without a pathological biomarker. Classic genetic studies found that an extra X chromosome frequently causes psychiatric symptoms in patients with either Klinefelter syndrome (XXY) or Triple X syndrome (XXX). Over-dosage of some X-linked escapee genes was suggested to cause psychiatric disorders. However, relevance of these rare genetic diseases to the pathogenesis of psychiatric disorders in the general population of psychiatric patients is unknown. Methods XIST and several X-linked genes were studied in 36 lymphoblastoid cell lines from healthy females and 60 lymphoblastoid cell lines from female patients with either bipolar disorder or recurrent major depression. XIST and KDM5C expression was also quantified in 48 RNA samples from postmortem human brains of healthy female controls and female psychiatric patients. Findings We found that the XIST gene, a master in control of X chromosome inactivation (XCI), is significantly over-expressed (p = 1 × 10− 7, corrected after multiple comparisons) in the lymphoblastoid cells of female patients with either bipolar disorder or major depression. The X-linked escapee gene KDM5C also displays significant up-regulation (p = 5.3 × 10− 7, corrected after multiple comparisons) in the patients' cells. Expression of XIST and KDM5C is highly correlated (Pearson's coefficient, r = 0.78, p = 1.3 × 10− 13). Studies on human postmortem brains supported over-expression of the XIST gene in female psychiatric patients. Interpretations We propose that over-expression of XIST may cause or result from subtle alteration of XCI, which up-regulates the expression of some X-linked escapee genes including KDM5C. Over-expression of X-linked genes could be a common mechanism for the development of psychiatric disorders between patients with those rare genetic diseases and the general population of female psychiatric patients with XIST over-expression. Our studies

  3. Loci on chromosomes 6q and 6p interact to increase susceptibility to bipolar affective disorder in the national institute of mental health genetics initiative pedigrees.

    PubMed

    Schulze, Thomas G; Buervenich, Silvia; Badner, Judith A; Steele, C J M; Detera-Wadleigh, Sevilla D; Dick, Danielle; Foroud, Tatiana; Cox, Nancy J; MacKinnon, Dean F; Potash, James B; Berrettini, Wade H; Byerley, William; Coryell, William; DePaulo, J Raymond; Gershon, Elliot S; Kelsoe, John R; McInnis, Melvin G; Murphy, Dennis L; Reich, Theodore; Scheftner, William; Nurnberger, John I; McMahon, Francis J

    2004-07-01

    We have reported genetic linkage between bipolar disorder and markers on chromosome 6q16.3-22.1 in the National Institute of Mental Health Genetics Initiative wave 3 pedigrees. Here we test for: 1) robustness of the linkage to differing analysis methods, genotyping error, and gender-specific maps; 2) parent-of-origin effects; and 3) interaction with markers within the schizophrenia linkage region on chromosome 6p. Members of 245 families ascertained through a sibling pair affected with bipolar I or schizoaffective-bipolar disorder were genotyped with 18 markers spanning chromosome 6. Nonparametric linkage analysis was performed. Linkage to 6q is robust to analysis method, gender-specific map differences, and genotyping error. The locus confers a 1.4-fold increased risk. Affected siblings share the maternal more often than the paternal chromosome (p =.006), which could reflect a maternal parent-of-origin effect. There is a positive correlation between family-specific linkage scores on 6q and those on 6p22.2 (r =.26; p <.0001). Linkage analysis for each locus conditioned on evidence of linkage to the other increases the evidence for linkage at both loci (p <.0005). Logarithm of the odds (LOD) scores increased from 2.26 to 5.42 on 6q and from.35 to 2.26 on 6p22.2. These results support linkage of bipolar disorder to 6q, uncover a maternal parent-of-origin effect, and demonstrate an interaction of this locus with one on chromosome 6p22.2, previously linked only to schizophrenia.

  4. Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.

    PubMed

    Mäkelä-Bengs, P; Järvinen, N; Vuopala, K; Suomalainen, A; Ignatius, J; Sipilä, M; Herva, R; Palotie, A; Peltonen, L

    1998-08-01

    Lethal congenital contracture syndrome (LCCS) is an autosomal recessive disease leading to death before the 32d gestational week. It is characterized by the fetal akinesia phenotype, with highly focused degeneration of motoneurons in the spinal cord as the main neuropathological finding. We report here the assignment of the LCCS locus to a defined region of chromosome 9q34, between markers D9S1825 and D9S1830. The initial genome scan was performed with the DNA samples of only five affected individuals from two unrelated LCCS families. The conventional linkage analysis performed with 20 affected individuals and their families was focused on those chromosomal regions in which the affected siblings were identical by descent in the initial scan. One core haplotype of 3 cM was observed in LCCS alleles, supporting the assumption of one major mutation underlying LCCS, and linkage disequilibrium analysis restricted the critical chromosomal region to <100 kb in the vicinity of marker D9S61. Two genes, NGAL (neutrophil gelatinase-associated lipocalin and NOTCH 1, were excluded as causative genes for LCCS

  5. THE HUMAN CHROMOSOME

    PubMed Central

    Abuelo, J. G.; Moore, Dorothy E.

    1969-01-01

    Human lymphocytes were grown in short-term tissue culture and were arrested in metaphase with Colcemid. Their chromosomes were prepared by the Langmuir trough-critical point drying technique and were examined under the electron microscope. In addition, some chromosomes were digested with trypsin, Pronase, or DNase. The chromosomes consist entirely of tightly packed, 240 ± 50-A chromatin fibers. Trypsin and Pronase treatments induce relaxation of fiber packing and reveal certain underlying fiber arrangements. Furthermore, trypsin treatment demonstrates that the chromatin fiber has a 25–50 A trypsin-resistant core surrounded by a trypsin-sensitive sheath. DNase digestion suggests that this core contains DNA. PMID:5775795

  6. Isolation of a Genomic Region Affecting Most Components of Metabolic Syndrome in a Chromosome-16 Congenic Rat Model

    PubMed Central

    Šedová, Lucie; Pravenec, Michal; Křenová, Drahomíra; Kazdová, Ludmila; Zídek, Václav; Krupková, Michaela; Liška, František; Křen, Vladimír; Šeda, Ondřej

    2016-01-01

    Metabolic syndrome is a highly prevalent human disease with substantial genomic and environmental components. Previous studies indicate the presence of significant genetic determinants of several features of metabolic syndrome on rat chromosome 16 (RNO16) and the syntenic regions of human genome. We derived the SHR.BN16 congenic strain by introgression of a limited RNO16 region from the Brown Norway congenic strain (BN-Lx) into the genomic background of the spontaneously hypertensive rat (SHR) strain. We compared the morphometric, metabolic, and hemodynamic profiles of adult male SHR and SHR.BN16 rats. We also compared in silico the DNA sequences for the differential segment in the BN-Lx and SHR parental strains. SHR.BN16 congenic rats had significantly lower weight, decreased concentrations of total triglycerides and cholesterol, and improved glucose tolerance compared with SHR rats. The concentrations of insulin, free fatty acids, and adiponectin were comparable between the two strains. SHR.BN16 rats had significantly lower systolic (18–28 mmHg difference) and diastolic (10–15 mmHg difference) blood pressure throughout the experiment (repeated-measures ANOVA, P < 0.001). The differential segment spans approximately 22 Mb of the telomeric part of the short arm of RNO16. The in silico analyses revealed over 1200 DNA variants between the BN-Lx and SHR genomes in the SHR.BN16 differential segment, 44 of which lead to missense mutations, and only eight of which (in Asb14, Il17rd, Itih1, Syt15, Ercc6, RGD1564958, Tmem161a, and Gatad2a genes) are predicted to be damaging to the protein product. Furthermore, a number of genes within the RNO16 differential segment associated with metabolic syndrome components in human studies showed polymorphisms between SHR and BN-Lx (including Lpl, Nrg3, Pbx4, Cilp2, and Stab1). Our novel congenic rat model demonstrates that a limited genomic region on RNO16 in the SHR significantly affects many of the features of metabolic syndrome

  7. Isolation of a Genomic Region Affecting Most Components of Metabolic Syndrome in a Chromosome-16 Congenic Rat Model.

    PubMed

    Šedová, Lucie; Pravenec, Michal; Křenová, Drahomíra; Kazdová, Ludmila; Zídek, Václav; Krupková, Michaela; Liška, František; Křen, Vladimír; Šeda, Ondřej

    2016-01-01

    Metabolic syndrome is a highly prevalent human disease with substantial genomic and environmental components. Previous studies indicate the presence of significant genetic determinants of several features of metabolic syndrome on rat chromosome 16 (RNO16) and the syntenic regions of human genome. We derived the SHR.BN16 congenic strain by introgression of a limited RNO16 region from the Brown Norway congenic strain (BN-Lx) into the genomic background of the spontaneously hypertensive rat (SHR) strain. We compared the morphometric, metabolic, and hemodynamic profiles of adult male SHR and SHR.BN16 rats. We also compared in silico the DNA sequences for the differential segment in the BN-Lx and SHR parental strains. SHR.BN16 congenic rats had significantly lower weight, decreased concentrations of total triglycerides and cholesterol, and improved glucose tolerance compared with SHR rats. The concentrations of insulin, free fatty acids, and adiponectin were comparable between the two strains. SHR.BN16 rats had significantly lower systolic (18-28 mmHg difference) and diastolic (10-15 mmHg difference) blood pressure throughout the experiment (repeated-measures ANOVA, P < 0.001). The differential segment spans approximately 22 Mb of the telomeric part of the short arm of RNO16. The in silico analyses revealed over 1200 DNA variants between the BN-Lx and SHR genomes in the SHR.BN16 differential segment, 44 of which lead to missense mutations, and only eight of which (in Asb14, Il17rd, Itih1, Syt15, Ercc6, RGD1564958, Tmem161a, and Gatad2a genes) are predicted to be damaging to the protein product. Furthermore, a number of genes within the RNO16 differential segment associated with metabolic syndrome components in human studies showed polymorphisms between SHR and BN-Lx (including Lpl, Nrg3, Pbx4, Cilp2, and Stab1). Our novel congenic rat model demonstrates that a limited genomic region on RNO16 in the SHR significantly affects many of the features of metabolic syndrome.

  8. The parent-of-origin of the extra X chromosome may differentially affect psychopathology in Klinefelter syndrome

    PubMed Central

    Bruining, H.; van Rijn, S; Swaab, H; Giltay, J.; Kates, W.; Kas, M. J. H.; van Engeland, H; de Sonneville, L

    2010-01-01

    Background Several genetic mechanisms have been proposed for the variability of the KS phenotype such as the parent-of-origin of the extra X chromosome. Parent-of-origin effects on behavior in KS can possibly provide insights into X-linked imprinting effects on psychopathology that may be extrapolated to other populations. Here, we investigated whether the parent-of-origin of the supernumerary X chromosome influences autistic and schizotypal symptom profiles in KS. Methods Parent-of-origin of the X chromosome was determined through analysis of the polymorphic CAG tandem repeat of the androgen receptor. Autistic traits (Autism Diagnostic Interview-revised) were measured in a younger KS sample (n=33) with KS and schizoptypal traits (Schizotypal Personality Questionnaire) were assessed in an older KS sample (n=43). Scale scores on these questionnaires were entered in statistical analyses to test parent-of-origin effects. Results The results show that parent-of-origin of the X chromosome is reflected in autistic and schizotypal symptomatology. Differences were shown in the degree of both schizotypal and autistic symptoms between the parent-of-origin groups. Furthermore, the parent-of-origin could be correctly discriminated in more than 90% of subjects through ADI-R scales and in around 80 % of subjects through SPQ scales. Discussion These findings point to parent-of-origin effects on psychopathology in KS and indicate that imprinted X chromosomal genes may have differential effects on autistic and schizotypal traits. Further exploration of imprinting effects on psychopathology in KS is needed to confirm and expand on our findings. PMID:21035791

  9. Linkage analyses of chromosome 18 markers do not identify a major susceptibility locus for bipolar affective disorder in the Old Order Amish

    SciTech Connect

    Pauls, D.L.; Paul, S.M. |; Allen, C.R.

    1995-09-01

    Previously reported linkage of bipolar affective disorder to DNA markers in the pericentromeric region of chromosome 18 was reexamined in a larger homogeneous sample of Old Order Amish families. Four markers (D18S21, D18S53, D18S44, and D18S40) were examined in three kindreds containing 31 bipolar I (BP I) individuals. Although linkage findings were replicated in the one previously studied Amish pedigree containing four BP I individuals, linkage to this region was excluded in the larger sample. If a susceptibility locus for bipolar disorder is located in this region of chromosome 18, it is of minor significance in this population. 40 refs., 1 fig., 5 tabs.

  10. Dynamic Face Seal Arrangement

    NASA Technical Reports Server (NTRS)

    Dellacorte, Christopher (Inventor)

    1999-01-01

    A radial face seal arrangement is disclosed comprising a stationary seal ring that is spring loaded against a seal seat affixed to a rotating shaft. The radial face seal arrangement further comprises an arrangement that not only allows for preloading of the stationary seal ring relative to the seal seat, but also provides for dampening yielding a dynamic seating response for the radial face seal arrangement. The overall seal system, especially regarding the selection of the material for the stationary seal ring, is designed to operate over a wide temperature range from below ambient up to 900 C.

  11. CALUTRON PLANT ARRANGEMENT

    DOEpatents

    Waite, L.O.

    1959-06-01

    A description is given of an arrangement for calutrons in which the tanks and magnets are placed alternately in a race track'' figure. Pump connections are through the floor to the pumps below where roughing and finishing headers are provided. The arrangement provides more efficient and exonomical operaton, economy of construction, and saving of space. (T.R.H.)

  12. Teaching Arrangement Inductively.

    ERIC Educational Resources Information Center

    Mendelson, Michael

    1988-01-01

    Argues that teaching arrangement inductively offers an alternative to the standard imitation of business communication text models. Asserts that the inductive method stimulates individual rather than formulaic responses to the problems of organization, and that inductively-trained writers see arrangements as a powerful element in persuasive…

  13. Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase.

    PubMed

    Murphy, D L; Sims, K B; Karoum, F; Garrick, N A; de la Chapelle, A; Sankila, E M; Norio, R; Breakefield, X O

    1991-01-01

    Two individuals with an X-chromosomal deletion were recently found to lack the genes encoding monoamine oxidase type A (MAO-A) and MAO-B. This abnormality was associated with almost total (90%) reductions in the oxidatively deaminated urinary metabolites of the MAO-A substrate, norepinephrine, and with marked (100-fold) increases in an MAO-B substrate, phenylethylamine, confirming systemic functional consequences of the genetic enzyme deficiency. However, urinary concentrations of the deaminated metabolites of dopamine and serotonin (5-HT) were essentially normal. To investigate other deaminating systems besides MAO-A and MAO-B that might produce these metabolites of dopamine and 5-HT, we examined plasma amine oxidase (AO) activity in these two patients and two additional patients with the same X-chromosomal deletion. Normal plasma AO activity was found in all four Norrie disease-deletion patients, in four patients with classic Norrie disease without a chromosomal deletion, and in family members of patients from both groups. Marked plasma amine metabolite abnormalities and essentially absent platelet MAO-B activity were found in all four Norrie disease-deletion patients, but in none of the other subjects in the two comparison groups. These results indicate that plasma AO is encoded by gene(s) independent of those for MAO-A and MAO-B, and raise the possibility that plasma AO, and perhaps the closely related tissue AO, benzylamine oxidase, as well as other atypical AOs or MAOs encoded independently from MAO-A and MAO-B may contribute to the oxidative deamination of dopamine and 5-HT in humans.

  14. Genetics Home Reference: ring chromosome 20 syndrome

    MedlinePlus

    ... Home Health Conditions ring chromosome 20 syndrome ring chromosome 20 syndrome Printable PDF Open All Close All ... to view the expand/collapse boxes. Description Ring chromosome 20 syndrome is a condition that affects the ...

  15. Genetics Home Reference: Y chromosome infertility

    MedlinePlus

    ... 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 ...

  16. De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.

    PubMed

    Vaccari, Carlotta Maria; Romanini, Maria Victoria; Musante, Ilaria; Tassano, Elisa; Gimelli, Stefania; Divizia, Maria Teresa; Torre, Michele; Morovic, Carmen Gloria; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria

    2014-05-30

    Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have a genetic basis, though the genetic mechanisms underlying PS development are still unknown. Here we describe a couple of monozygotic (MZ) twin girls, both presenting with Poland Syndrome. They carry a de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four of which, namely HRASLS5, RARRES3, HRASLS2, and PLA2G16, encode proteins that regulate cellular growth, differentiation, and apoptosis, mainly through Ras-mediated signaling pathways. Phenotype concordance between the monozygotic twin probands provides evidence supporting the genetic control of PS. As genes controlling cell growth and differentiation may be related to morphological defects originating during development, we postulate that the observed chromosome deletion could be causative of the phenotype observed in the twin girls and the deleted genes could play a role in PS development.

  17. Chromosomal Abnormalities Affect the Surgical Outcome in Infants with Hypoplastic Left Heart Syndrome: A Large Cohort Analysis.

    PubMed

    Zakaria, Dala; Tang, Xinyu; Bhakta, Rupal; ElHassan, Nahed O; Prodhan, Parthak

    2017-09-18

    Patients with hypoplastic left heart syndrome (HLHS) can have associated genetic abnormalities. This study evaluated the incidence of genetic abnormalities among infants with HLHS and the short-term outcomes of this population during the first hospitalization. This is a retrospective analysis of the multi-center Pediatric Heath Information System database of infants with HLHS who underwent Stage I Norwood, Hybrid, or heart transplant during their first hospitalization from 2004 through 2013. We compared clinical data between infants with and without genetic abnormality, among the three most common chromosomal abnormalities, and between survivors and non-survivors. Multivariable analysis was completed to evaluate predictors of mortality among patients with genetic abnormalities. A total of 5721 infants with HLHS were identified; 282 (5%) had associated genetic abnormalities. The three most common chromosomal abnormalities were Turner (25%), DiGeorge (22%), and Downs (12.7%) syndromes. Over the study period, the number of patients with genetic abnormalities undergoing cardiac operations increased without any significant increases in mortality. Infants with genetic abnormalities compared to those without abnormalities had longer hospital length of stay and higher morbidity and mortality. Variables associated with mortality were lower gestational age, longer duration of vasopressor therapy, need for dialysis, and cardiopulmonary resuscitation; and complicated clinical course as suggested by necrotizing enterocolitis, septicemia. Presence of any genetic abnormality in infants with HLHS undergoing cardiac surgery is associated with increased mortality and morbidity. Timely genetic testing, appropriate family counseling, and thorough preoperative case selection are suggested for these patients for any operative intervention.

  18. A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice.

    PubMed

    Zheng, Qing Yin; Ding, Dalian; Yu, Heping; Salvi, Richard J; Johnson, Kenneth R

    2009-10-01

    The ahl locus, shown to be a strain-specific Cdh23 dimorphism, contributes to age-related hearing loss in many inbred mouse strains. A/J mice begin to lose hearing by 4 weeks of age, much earlier than C57BL/6J (B6) mice, although both strains have the same Cdh23(ahl) variant. Here, we use recombinant inbred strains, chromosome substitution strains, and a linkage backcross to map a locus on distal Chromosome 10, designated ahl4, that contributes to the early-onset hearing loss of A/J mice. Cochleae of 9-week-old A/J mice exhibit inner and outer hair cell loss from the basal turn through the apical turn, with outer hair cell loss at the base being severest. To quantify the progression of hair cell loss, cytocochleograms were evaluated from 0 to 20 weeks of age. A/J mice showed evidence of hair cell loss in the base of the cochlea as early as 14 days of age and the magnitude and extent of loss increased rapidly during the following 2-5 months. Hair cell loss occurred earlier and was much more severe and widespread in A/J mice than in B6 mice during the first 5 months of age. Spiral ganglion neurons, cells of the stria vascularis, and vestibular hair cell densities, however, appeared normal in 20-week-old A/J mice.

  19. Chromosomal Conditions

    MedlinePlus

    ... 150 babies is born with a chromosomal condition. Down syndrome is an example of a chromosomal condition. Because ... all pregnant women be offered prenatal tests for Down syndrome and other chromosomal conditions. A screening test is ...

  20. Genomewide Linkage Study in 1,176 Affected Sister Pair Families Identifies a Significant Susceptibility Locus for Endometriosis on Chromosome 10q26

    PubMed Central

    Treloar, Susan A.; Wicks, Jacqueline; Nyholt, Dale R.; Montgomery, Grant W.; Bahlo, Melanie; Smith, Vicki; Dawson, Gary; Mackay, Ian J.; Weeks, Daniel E.; Bennett, Simon T.; Carey, Alisoun; Ewen-White, Kelly R.; Duffy, David L.; O’Connor, Daniel T.; Barlow, David H.; Martin, Nicholas G.; Kennedy, Stephen H.

    2005-01-01

    Endometriosis is a common gynecological disease that affects up to 10% of women in their reproductive years. It causes pelvic pain, severe dysmenorrhea, and subfertility. The disease is defined as the presence of tissue resembling endometrium in sites outside the uterus. Its cause remains uncertain despite >50 years of hypothesis-driven research, and thus the therapeutic options are limited. Disease predisposition is inherited as a complex genetic trait, which provides an alternative route to understanding the disease. We seek to identify susceptibility loci, using a positional-cloning approach that starts with linkage analysis to identify genomic regions likely to harbor these genes. We conducted a linkage study of 1,176 families (931 from an Australian group and 245 from a U.K. group), each with at least two members—mainly affected sister pairs—with surgically diagnosed disease. We have identified a region of significant linkage on chromosome 10q26 (maximum LOD score [MLS] of 3.09; genomewide P = .047) and another region of suggestive linkage on chromosome 20p13 (MLS = 2.09). Minor peaks (with MLS > 1.0) were found on chromosomes 2, 6, 7, 8, 12, 14, 15, and 17. This is the first report of linkage to a major locus for endometriosis. The findings will facilitate discovery of novel positional genetic variants that influence the risk of developing this debilitating disease. Greater understanding of the aberrant cellular and molecular mechanisms involved in the etiology and pathophysiology of endometriosis should lead to better diagnostic methods and targeted treatments. PMID:16080113

  1. Two-locus admixture linkage analysis of bipolar and unipolar affective disorder supports the presence of susceptibility loci on chromosomes 11p15 and 21q22

    SciTech Connect

    Smyth, C.; Kalsi, G.; O`Neill, J.

    1997-02-01

    Following a report of a linkage study that yielded evidence for a susceptibility locus for bipolar affective disorder on the long arm of chromosome 21, we studied 23 multiply affected pedigrees collected from Iceland and the UK, using the markers PFKL, D21S171, and D21S49. Counting only bipolar cases as affected, a two-point LOD of 1.28 was obtained using D21S171 ({theta} = 0.01, {alpha} = 0.35), with three Icelandic families producing LODs of 0.63, 0.62, and 1.74 (all at {theta} = 0.0). Affected sib pair analysis demonstrated increased allele sharing at D21S171 (P = 0.001) when unipolar cases were also considered affected. The same set of pedigrees had previously been typed for a tyrosine hydroxylase gene (TH) polymorphism at 11p15 and had shown some moderate evidence for linkage. When information from TH and the 21q markers was combined in a two-locus admixture analysis, an overall admixture LOD of 3.87 was obtained using the bipolar affection model. Thus the data are compatible with the hypothesis that a locus at or near TH influences susceptibility in some pedigrees, while a locus near D21S171 is active in others. Similar analyses in other datasets should be carried out to confirm or refute our tentative finding. 66 refs., 3 tabs.

  2. Birefringence and DNA Condensation of Liquid Crystalline Chromosomes

    PubMed Central

    Chow, Man H.; Yan, Kosmo T. H.; Bennett, Michael J.; Wong, Joseph T. Y.

    2010-01-01

    DNA can self-assemble in vitro into several liquid crystalline phases at high concentrations. The largest known genomes are encoded by the cholesteric liquid crystalline chromosomes (LCCs) of the dinoflagellates, a diverse group of protists related to the malarial parasites. Very little is known about how the liquid crystalline packaging strategy is employed to organize these genomes, the largest among living eukaryotes—up to 80 times the size of the human genome. Comparative measurements using a semiautomatic polarizing microscope demonstrated that there is a large variation in the birefringence, an optical property of anisotropic materials, of the chromosomes from different dinoflagellate species, despite their apparently similar ultrastructural patterns of bands and arches. There is a large variation in the chromosomal arrangements in the nuclei and individual karyotypes. Our data suggest that both macroscopic and ultrastructural arrangements affect the apparent birefringence of the liquid crystalline chromosomes. Positive correlations are demonstrated for the first time between the level of absolute retardance and both the DNA content and the observed helical pitch measured from transmission electron microscopy (TEM) photomicrographs. Experiments that induced disassembly of the chromosomes revealed multiple orders of organization in the dinoflagellate chromosomes. With the low protein-to-DNA ratio, we propose that a highly regulated use of entropy-driven force must be involved in the assembly of these LCCs. Knowledge of the mechanism of packaging and arranging these largest known DNAs into different shapes and different formats in the nuclei would be of great value in the use of DNA as nanostructural material. PMID:20400466

  3. Mutagenic and teratogenic effects of cyclophosphamide on the chick embryo: chromosomal aberrations and cell proliferation in affected and unaffected tissues.

    PubMed

    Novotná, B; Jelínek, R

    1990-01-01

    Chromosomal aberrations and cell proliferation were analyzed in the chick embryo blood, limb bud, and facial tissues 12 and 24 hours after cyclophosphamide (CP) administration on day 3. The cytogenic findings were compared with teratogenic effects evaluated on incubation day 8. Low dose (0.3 micrograms) resulting in heart defects exclusively, increased the frequency of aberrant cells with simultaneous depression of cell proliferation in blood only. High dose of CP (6 micrograms), besides the heart defects, also induced facial clefts and limb malformations, and strong clastogenic effects associated with mitotic inhibition were observed in all tissues investigated. The results support the idea that the consequences of mutagenic action of cyclophosphamide--cell cycle delay and excessive death of cells with unstable aberrations--result in abnormal morphogenesis.

  4. Sense circuit arrangement

    NASA Technical Reports Server (NTRS)

    Bohning, Oliver D. (Inventor)

    1976-01-01

    A unique, two-node sense circuit is disclosed. The circuit includes a bridge comprised of resistance elements and a differential amplifier. The two-node circuit is suitably adapted to be arranged in an array comprised of a plurality of discrete bridge-amplifiers which can be selectively energized. The circuit is arranged so as to form a configuration with minimum power utilization and a reduced number of components and interconnections therebetween.

  5. Evidence for chromosome 2p16.3 polycystic ovary syndrome susceptibility locus in affected women of European ancestry.

    PubMed

    Mutharasan, Priscilla; Galdones, Eugene; Peñalver Bernabé, Beatriz; Garcia, Obed A; Jafari, Nadereh; Shea, Lonnie D; Woodruff, Teresa K; Legro, Richard S; Dunaif, Andrea; Urbanek, Margrit

    2013-01-01

    A previous genome-wide association study in Chinese women with polycystic ovary syndrome (PCOS) identified a region on chromosome 2p16.3 encoding the LH/choriogonadotropin receptor (LHCGR) and FSH receptor (FSHR) genes as a reproducible PCOS susceptibility locus. The objective of the study was to determine the role of the LHCGR and/or FSHR gene in the etiology of PCOS in women of European ancestry. This was a genetic association study in a European ancestry cohort of women with PCOS. The study was conducted at an academic medical center. Participants in the study included 905 women with PCOS diagnosed by National Institutes of Health criteria and 956 control women. We genotyped 94 haplotype-tagging single-nucleotide polymorphisms and two coding single-nucleotide polymorphisms mapping to the coding region of LHCGR and FSHR plus 20 kb upstream and downstream of the genes and test for association in the case control cohort and for association with nine quantitative traits in the women with PCOS. We found strong evidence for an association of PCOS with rs7562215 (P = 0.0037) and rs10495960 (P = 0.0046). Although the marker with the strongest association in the Chinese PCOS genome-wide association study (rs13405728) was not informative in the European populations, we identified and genotyped three markers (rs35960650, rs2956355, and rs7562879) within 5 kb of rs13405728. Of these, rs7562879 was nominally associated with PCOS (P = 0.020). The strongest evidence for association mapping to FSHR was observed with rs1922476 (P = 0.0053). Furthermore, markers with the FSHR gene region were associated with FSH levels in women with PCOS. Fine mapping of the chromosome 2p16.3 Chinese PCOS susceptibility locus in a European ancestry cohort provides evidence for association with two independent loci and PCOS. The gene products LHCGR and FSHR therefore are likely to be important in the etiology of PCOS, regardless of ethnicity.

  6. Curcumin affects components of the chromosomal passenger complex and induces mitotic catastrophe in apoptosis-resistant Bcr-Abl-expressing cells.

    PubMed

    Wolanin, Kamila; Magalska, Adriana; Mosieniak, Grazyna; Klinger, Rut; McKenna, Sharon; Vejda, Susanne; Sikora, Ewa; Piwocka, Katarzyna

    2006-07-01

    The Bcr-Abl oncoprotein plays a major role in the development and progression of chronic myeloid leukemia and is a determinant of chemotherapy resistance occurring during the blast crisis phase of the disease. The aim of this article was to investigate the possibility of combating the resistance to apoptosis caused by Bcr-Abl by inducing an alternative cell death process. As a model of chronic myeloid leukemia, we employed Bcr-Abl-transfected mouse progenitor 32D cells with low and high Bcr-Abl expression levels corresponding to drug-sensitive and drug-resistant cells, respectively. The drug curcumin (diferuloylmethane), a known potent inducer of cell death in many cancer cells, was investigated for efficacy with Bcr-Abl-expressing cells. Curcumin strongly inhibited cell proliferation and affected cell viability by inducing apoptotic symptoms in all tested cells; however, apoptosis was a relatively late event. G(2)-M cell cycle arrest, together with increased mitotic index and cellular and nuclear morphology resembling those described for mitotic catastrophe, was observed and preceded caspase-3 activation and DNA fragmentation. Mitosis-arrested cells displayed abnormal chromatin organization, multipolar chromosome segregation, aberrant cytokinesis, and multinucleated cells-morphologic changes typical of mitotic catastrophe. We found that the mitotic cell death symptoms correlated with attenuated expression of survivin, a member of the chromosomal passenger complex, and mislocalization of Aurora B, the partner of survivin in the chromosomal passenger complex. Inhibition of survivin expression with small interfering RNA exhibited similar mitotic disturbances, thus implicating survivin as a major, albeit not the only, target for curcumin action. This study shows that curcumin can overcome the broad resistance to cell death caused by expression of Bcr-Abl and suggests that curcumin may be a promising agent for new combination regimens for drug-resistant chronic myeloid

  7. Chromosomal rearrangements do not seem to affect the gene flow in hybrid zones between karyotypic races of the common shrew (Sorex araneus).

    PubMed

    Horn, Agnès; Basset, Patrick; Yannic, Glenn; Banaszek, Agata; Borodin, Pavel M; Bulatova, Nina S; Jadwiszczak, Katarzyna; Jones, Ross M; Polyakov, Andrei V; Ratkiewicz, Miroslaw; Searle, Jeremy B; Shchipanov, Nikolai A; Zima, Jan; Hausser, Jacques

    2012-03-01

    Chromosomal rearrangements are proposed to promote genetic differentiation between chromosomally differentiated taxa and therefore promote speciation. Due to their remarkable karyotypic polymorphism, the shrews of the Sorex araneus group were used to investigate the impact of chromosomal rearrangements on gene flow. Five intraspecific chromosomal hybrid zones characterized by different levels of karyotypic complexity were studied using 16 microsatellites markers. We observed low levels of genetic differentiation even in the hybrid zones with the highest karyotypic complexity. No evidence of restricted gene flow between differently rearranged chromosomes was observed. Contrary to what was observed at the interspecific level, the effect of chromosomal rearrangements on gene flow was undetectable within the S. araneus species.

  8. Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice.

    PubMed

    Suzuki, Go; Harper, Kathryn M; Hiramoto, Takeshi; Funke, Birgit; Lee, MoonSook; Kang, Gina; Buell, Mahalah; Geyer, Mark A; Kucherlapati, Raju; Morrow, Bernice; Männistö, Pekka T; Agatsuma, Soh; Hiroi, Noboru

    2009-10-15

    Duplication of human chromosome 22q11.2 is associated with elevated rates of mental retardation, autism and many other behavioral phenotypes. However, because duplications cover 1.5-6 Mb, the precise manner in which segments of 22q11.2 causally affect behavior is not known in humans. We have now determined the developmental impact of over-expression of an approximately 190 kb segment of human 22q11.2, which includes the genes TXNRD2, COMT and ARVCF, on behaviors in bacterial artificial chromosome (BAC) transgenic (TG) mice. BAC TG mice and wild-type (WT) mice were tested for their cognitive capacities, affect- and stress-related behaviors and motor activity at 1 and 2 months of age. An enzymatic assay determined the impact of BAC over-expression on the activity level of COMT. BAC TG mice approached a rewarded goal faster (i.e. incentive learning), but were impaired in delayed rewarded alternation during development. In contrast, BAC TG and WT mice were indistinguishable in rewarded alternation without delays, spontaneous alternation, prepulse inhibition, social interaction, anxiety-, stress- and fear-related behaviors and motor activity. Compared with WT mice, BAC TG mice had an approximately 2-fold higher level of COMT activity in the prefrontal cortex, striatum and hippocampus. These data suggest that over-expression of this 22q11.2 segment enhances incentive learning and impairs the prolonged maintenance of working memory, but has no apparent effect on working memory per se, affect- and stress-related behaviors or motor capacity. High copy numbers of this 22q11.2 segment might contribute to a highly selective set of phenotypes in learning and cognition during development.

  9. Marker chromosomes.

    PubMed

    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.

  10. Transmission-Ratio Distortion and Allele Sharing in Affected Sib Pairs: A New Linkage Statistic with Reduced Bias, with Application to Chromosome 6q25.3

    PubMed Central

    Lemire, Mathieu; Roslin, Nicole M.; Laprise, Catherine; Hudson, Thomas J.; Morgan, Kenneth

    2004-01-01

    We studied the effect of transmission-ratio distortion (TRD) on tests of linkage based on allele sharing in affected sib pairs. We developed and implemented a discrete-trait allele-sharing test statistic, Sad, analogous to the Spairs test statistic of Whittemore and Halpern, that evaluates an excess sharing of alleles at autosomal loci in pairs of affected siblings, as well as a lack of sharing in phenotypically discordant relative pairs, where available. Under the null hypothesis of no linkage, nuclear families with at least two affected siblings and one unaffected sibling have a contribution to Sad that is unbiased, with respect to the effects of TRD independent of the disease under study. If more distantly related unaffected individuals are studied, the bias of Sad is generally reduced compared with that of Spairs, but not completely. Moreover, Sad has higher power, in some circumstances, because of the availability of unaffected relatives, who are ignored in affected-only analyses. We discuss situations in which it may be an efficient use of resources to genotype unaffected relatives, which would give insights for promising study designs. The method is applied to a sample of pedigrees ascertained for asthma in a chromosomal region in which TRD has been reported. Results are consistent with the presence of transmission distortion in that region. PMID:15322985

  11. Fuel cell arrangement

    DOEpatents

    Isenberg, Arnold O.

    1987-05-12

    A fuel cell arrangement is provided wherein cylindrical cells of the solid oxide electrolyte type are arranged in planar arrays where the cells within a plane are parallel. Planes of cells are stacked with cells of adjacent planes perpendicular to one another. Air is provided to the interior of the cells through feed tubes which pass through a preheat chamber. Fuel is provided to the fuel cells through a channel in the center of the cell stack; the fuel then passes the exterior of the cells and combines with the oxygen-depleted air in the preheat chamber.

  12. Fuel cell arrangement

    DOEpatents

    Isenberg, A.O.

    1987-05-12

    A fuel cell arrangement is provided wherein cylindrical cells of the solid oxide electrolyte type are arranged in planar arrays where the cells within a plane are parallel. Planes of cells are stacked with cells of adjacent planes perpendicular to one another. Air is provided to the interior of the cells through feed tubes which pass through a preheat chamber. Fuel is provided to the fuel cells through a channel in the center of the cell stack; the fuel then passes the exterior of the cells and combines with the oxygen-depleted air in the preheat chamber. 3 figs.

  13. Fuel cell stack arrangements

    DOEpatents

    Kothmann, Richard E.; Somers, Edward V.

    1982-01-01

    Arrangements of stacks of fuel cells and ducts, for fuel cells operating with separate fuel, oxidant and coolant streams. An even number of stacks are arranged generally end-to-end in a loop. Ducts located at the juncture of consecutive stacks of the loop feed oxidant or fuel to or from the two consecutive stacks, each individual duct communicating with two stacks. A coolant fluid flows from outside the loop, into and through cooling channels of the stack, and is discharged into an enclosure duct formed within the loop by the stacks and seals at the junctures at the stacks.

  14. Structure and function of eukaryotic chromosomes

    SciTech Connect

    Hennig, W.

    1987-01-01

    Contents: Introduction; Polytene Chromosomel Giant Chromosomes in Ciliates; The sp-I Genes in the Balbiani Rings of Chironomus Salivary Glands; The White Locus of Drosophila Melanogaster; The Genetic and Molecular Organization of the Dense Cluster of Functionally Related Vital Genes in the DOPA Decarboxylase Region of the Drosophila melanogaster Genome; Heat Shock Puffs and Response to Environmental Stress; The Y Chromosomal Lampbrush Loops of Drosophila; Contributions of Electron Microscopic Spreading Preparations (''Miller Spreads'') to the Analysis of Chromosome Structure; Replication of DNA in Eukaryotic Chromosomes; Gene Amplification in Dipteran Chromosomes; The Significance of Plant Transposable Elements in Biologically Relevant Processes; Arrangement of Chromosomes in Interphase Cell Nuclei; Heterochromatin and the Phenomenon of Chromosome Banding; Multiple Nonhistone Protein-DNA Complexes in Chromatin Regulate the Cell- and Stage-Specific Activity of an Eukaryotic Gene; Genetics of Sex Determination in Eukaryotes; Application of Basic Chromosome Research in Biotechnology and Medicine. This book presents an overview of various aspects of chromosome research.

  15. Multipoint Fuel Injection Arrangements

    NASA Technical Reports Server (NTRS)

    Prociw, Lev Alexander (Inventor)

    2017-01-01

    A multipoint fuel injection system includes a plurality of fuel manifolds. Each manifold is in fluid communication with a plurality of injectors arranged circumferentially about a longitudinal axis for multipoint fuel injection. The injectors of separate respective manifolds are spaced radially apart from one another for separate radial staging of fuel flow to each respective manifold.

  16. Some Thoughts on Arrangement.

    ERIC Educational Resources Information Center

    Stewart, Donald C.

    1987-01-01

    Raises questions about the extent to which the classical treatment of arrangement is still appropriated by the modern composition teacher, and the ways in which this concept is tied to notions of coherence. Discusses implications for modern composition theory and practice. (MS)

  17. X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.

    PubMed

    Bissar-Tadmouri, Nesrine; Donahue, Whithey L; Al-Gazali, Lihadh; Nelson, Stanley F; Bayrak-Toydemir, Pinar; Kantarci, Sibel

    2014-01-01

    X-linked intellectual disability (XLID) is a heterogeneous condition associated with mutations in >100 genes, accounting for over 10% of all cases of intellectual impairment. The majority of XLID cases show nonsyndromic forms (NSXLID), in which intellectual disability is the sole clinically consistent manifestation. Here we performed X chromosome exome (X-exome) sequencing to identify the causative mutation in an NSXLID family with four affected male siblings and five unaffected female siblings. The X-exome sequencing at 88× coverage in one affected male sibling revealed a novel missense mutation (p.Tyr1074Cys) in the asparagine-linked glycosylation 13 homolog (ALG13) gene. Segregation analysis by Sanger sequencing showed that the all affected siblings were hemizygous and the mother was heterozygous for the mutation. Recently, a de novo missense mutation in ALG13 has been reported in a patient with X-linked congenital disorders of glycosylation type I. Our study reports the first case of NSXLID caused by a mutation in ALG13 involved in protein N-glycosylation.

  18. Specific features in linear and spatial organizations of pericentromeric heterochromatin regions in polytene chromosomes of the closely related species Drosophila virilis and D. kanekoi (Diptera: Drosophilidae).

    PubMed

    Wasserlauf, Irina; Usov, Konstantin; Artemov, Gleb; Anan'ina, Tatyana; Stegniy, Vladimir

    2015-06-01

    Heterochromatin plays an important role in the spatial arrangement and evolution of the eukaryotic genetic apparatus. The closely related species Drosophila virilis (phyla virilis) and D. kanekoi (phyla montana) differ in the amount of heterochromatin along the chromosomes as well as by the presence of the metacentric chromosome 2, which emerged as a result of a pericentric inversion during speciation, in the D. kanekoi karyotype. The purpose of this study was to establish if chromosome rearrangements have any influence on the linear redistribution of centromeric heterochromatin in polytene chromosomes and the spatial organization of chromosomes in the nuclei of nurse cell. We have microdissected the chromocenter of D. virilis salivary gland polytene chromosomes; obtained a DNA library of this region (DvirIII); and hybridized (FISH) DvirIII to the salivary gland and nurse cell polytene chromosomes of D. virilis and D. kanekoi. We demonstrated that DvirIII localizes to the pericentromeric heterochromatin regions of all chromosomes and peritelomeric region of chromosome 5 in both species. Unlike D. virilis, the DvirIII signal in D. kanekoi chromosomes is detectable in the telomeric region of chromosome 2. We have also conducted a 3D FISH of DvirIII probe to the D. virilis and D. kanekoi nurse cell chromosomes. In particular, the DvirIII signal in D. virilis was observed in the local chromocenter at one pole of the nucleus, while the signal belonging to the telomeric region of chromosome 5 was detectable at the other pole. In contrast, in D. kanekoi there exist two separate DvirIII-positive regions. One of these regions belongs to the pericentromeric region of chromosome 2 and the other, to pericentromeric regions of the remaining chromosomes. These results suggest that chromosome rearrangements play an important role in the redistribution of heterochromatin DNA sequences in the genome, representing a speciation mechanism, which, in general, could also affect the

  19. Imaging arrangement and microscope

    SciTech Connect

    Pertsinidis, Alexandros; Chu, Steven

    2015-12-15

    An embodiment of the present invention is an imaging arrangement that includes imaging optics, a fiducial light source, and a control system. In operation, the imaging optics separate light into first and second tight by wavelength and project the first and second light onto first and second areas within first and second detector regions, respectively. The imaging optics separate fiducial light from the fiducial light source into first and second fiducial light and project the first and second fiducial light onto third and fourth areas within the first and second detector regions, respectively. The control system adjusts alignment of the imaging optics so that the first and second fiducial light projected onto the first and second detector regions maintain relatively constant positions within the first and second detector regions, respectively. Another embodiment of the present invention is a microscope that includes the imaging arrangement.

  20. Enhancement of extra chromosomal recombination in somatic cells by affecting the ratio of homologous recombination (HR) to non-homologous end joining (NHEJ).

    PubMed

    Zaunbrecher, Gretchen M; Dunne, Patrick W; Mir, Bashir; Breen, Matthew; Piedrahita, Jorge A

    2008-01-01

    Advancements in somatic cell gene targeting have been slow due to the finite lifespan of somatic cells and the overall inefficiency of homologous recombination. The rate of homologous recombination is determined by mechanisms of DNA repair, and by the balance between homologous recombination (HR) and non-homologous end joining (NHEJ). A plasmid-to-plasmid, extra chromosomal recombination system was used to study the effects of the manipulation of molecules involved in NHEJ (Mre11, Ku70/80, and p53) on HR/NHEJ ratios. In addition, the effect of telomerase expression, cell synchrony, and DNA nuclear delivery was examined. While a mutant Mre11 and an anti-Ku aptamer did not significantly affect the rate of NHEJ or HR, transient expression of a p53 mutant increased overall HR/NHEJ by 2.5 fold. However, expression of the mutant p53 resulted in increased aneuploidy of the cultured cells. Additionally, we found no relationship between telomerase expression and changes in HR/NHEJ. In contrast, cell synchrony by thymidine incorporation did not induce chromosomal abnormalities, and increased the ratio of HR/NHEJ 5-fold by reducing the overall rate of NHEJ. Overall our results show that attempts at reducing NHEJ by use of Mre11 or anti-Ku aptamers were unsuccessful. Cell synchrony via thymidine incorporation, however, does increase the ratio of HR/NHEJ and this indicates that this approach may be of use to facilitate targeting in somatic cells by reducing the numbers of colonies that need to be analyzed before a HR is identified.

  1. Analysis of microsatellite markers and single nucleotide polymorphisms in candidate genes for susceptibility to bipolar affective disorder in the chromosome 12Q24.31 region.

    PubMed

    Shink, Eric; Harvey, Mario; Tremblay, Monique; Gagné, Bernard; Belleau, Pascal; Raymond, Catherine; Labbé, Michel; Dubé, Marie-Pierre; Lafrenière, Ronald G; Barden, Nicholas

    2005-05-05

    Previous results from our genetic analyses using pedigrees from a French Canadian population suggested that the interval delimited by markers D12S86 and D12S378 on chromosome 12 was the most probable genomic region to contain a susceptibility gene for affective disorders. Here we present a more detailed genetic analysis of a 7.7 Mb genomic region located on 12q24.31. This region was saturated with 20 microsatellite markers to refine the candidate region and linkage analysis performed in 41 families from the Saguenay-Lac-St-Jean (SLSJ) region of Quebec. The results of two point parametric analysis using MFLINK supported the presence of a susceptibility locus on chromosome 12q24.31. Association studies with microsatellite markers using a case/control sample from the same population (n = 401) and analyzed with CLUMP revealed significant allelic associations between the bipolar phenotype and markers NBG6 (P = 0.008) and NBG12 (P < 10(-3)). According to these results, we investigated candidate genes in the NBG12 area. We analyzed 32 genes for the presence of polymorphisms in coding sequences and intron/exon junctions and genotyped 22 non-synonymous SNPs in the SLSJ case/control sample. Two uncommon polymorphisms (minor allele frequency < or = 0.03) found in KIAA1595 and FLJ22471 genes, gave P-values below 0.05 with the T1 statistic. Moreover, using haplotype analysis, a nearly significant haplotypic association was observed at the HM74 gene. These results do not give strong support for a role in the susceptibility to bipolar disorder of any of these genes analyzed. However, the significance of rare polymorphisms should be explored by further analyses. Copyright 2005 Wiley-Liss, Inc.

  2. High resolution SNP array genomic profiling of peripheral T cell lymphomas, not otherwise specified, identifies a subgroup with chromosomal aberrations affecting the REL locus.

    PubMed

    Hartmann, Sylvia; Gesk, Stefan; Scholtysik, René; Kreuz, Markus; Bug, Stefanie; Vater, Inga; Döring, Claudia; Cogliatti, Sergio; Parrens, Marie; Merlio, Jean-Philippe; Kwiecinska, Anna; Porwit, Anna; Piccaluga, Pier Paolo; Pileri, Stefano; Hoefler, Gerald; Küppers, Ralf; Siebert, Reiner; Hansmann, Martin-Leo

    2010-02-01

    Little is known about genomic aberrations in peripheral T cell lymphoma, not otherwise specified (PTCL NOS). We studied 47 PTCL NOS by 250k GeneChip single nucleotide polymorphism arrays and detected genomic imbalances in 22 of the cases. Recurrent gains and losses were identified, including gains of chromosome regions 1q32-43, 2p15-16, 7, 8q24, 11q14-25, 17q11-21 and 21q11-21 (> or = 5 cases each) as well as losses of chromosome regions 1p35-36, 5q33, 6p22, 6q16, 6q21-22, 8p21-23, 9p21, 10p11-12, 10q11-22, 10q25-26, 13q14, 15q24, 16q22, 16q24, 17p11, 17p13 and Xp22 (> or = 4 cases each). Genomic imbalances affected several regions containing members of nuclear factor-kappaB signalling and genes involved in cell cycle control. Gains of 2p15-16 were confirmed in each of three cases analysed by fluorescence in situ hybridization (FISH) and were associated with breakpoints at the REL locus in two of these cases. Three additional cases with gains of the REL locus were detected by FISH among 18 further PTCL NOS. Five of 27 PTCL NOS investigated showed nuclear expression of the REL protein by immunohistochemistry, partly associated with genomic gains of the REL locus. Therefore, in a subgroup of PTCL NOS gains/rearrangements of REL and expression of REL protein may be of pathogenetic relevance.

  3. A combined analysis of D22S278 marker alleles in affected sib-pairs: Support for a susceptibility locus for schizophrenia at chromosome 22q12

    SciTech Connect

    Gill, M.; Vallada, H.; Collier, D.

    1996-02-16

    Several groups have reported weak evidence for linkage between schizophrenia and genetic markers located on chromosome 22q using the lod score method of analysis. However these findings involved different genetic markers and methods of analysis, and so were not directly comparable. To resolve this issue we have performed a combined analysis of genotypic data from the marker D22S278 in multiply affected schizophrenic families derived from 11 independent research groups worldwide. This marker was chosen because it showed maximum evidence for linkage in three independent datasets. Using the affected sib-pair method as implemented by the program ESPA, the combined dataset showed 252 alleles shared compared with 188 alleles not shared (chi-square 9.31, 1df, P = 0.001) where parental genotype data was completely known. When sib-pairs for whom parental data was assigned according to probability were included the number of alleles shared was 514.1 compared with 437.8 not shared (chi-square 6.12, 1df, P = 0.006). Similar results were obtained when a likelihood ratio method for sib-pair analysis was used. These results indicate that there may be a susceptibility locus for schizophrenia at 22q12. 27 refs., 3 tabs.

  4. Visual reinforcement audiometry. Comparison of loudspeaker arrangements.

    PubMed

    Magnusson, L; Börjesson, E; Axelsson, A C

    1997-01-01

    Two different loudspeaker arrangements are currently used when performing Visual Reinforcement Audiometry (VRA). In the one arrangement, the loudspeakers are mounted on separate movable arms and positioned 15 cm from each ear. In the other, the loudspeakers are rigidly mounted close to their respective picture monitor at a distance of 50-70 cm from the child. In the present study, these two arrangements were compared by measuring real-ear sound pressure levels and actual sound field conditions. It was shown that a predominantly monaural stimulation was best achieved by using the 15-cm position, but also that the measurements were significantly more affected by small head movements when using this close position. When assessing the acoustics as well as practical aspects, it was concluded that loudspeakers mounted beside the picture monitors at a distance of 50-70 cm from the child makes a generally appropriate arrangement for VRA.

  5. Arrangement Analysis of Leaves Optimized on Photon Flux Density or Photosynthetic Rate

    NASA Astrophysics Data System (ADS)

    Obara, Shin'ya; Tanno, Itaru

    By clarifying a plant evolutive process, useful information may be obtained on engineering. Consequently, an analysis algorithm that investigates the optimal arrangement of plant leaves was developed. In the developed algorithm, the Monte Carlo method is introduced and sunlight is simulated. Moreover, the arrangement optimization of leaves is analyzed using a Genetic Algorithm (GA). The number of light quanta (photon flux density) that reaches leaves, or the average photosynthetic rate of the same was set as the objective function, and leaf models of a dogwood and a ginkgo tree were analyzed. The number of leaf models was set between two to four, and the position of the leaf was expressed in terms of the angle of direction, elevation angle, rotation angle, and the representative length of the branch of a leaf. The chromosome model introduced into GA consists of information concerning the position of the leaf. Based on the analysis results, the characteristics of the leaf of an actual plant could be simulated by ensuring the algorithm had multiple constrained conditions. The optimal arrangement of leaves differs in maximization of the photon flux density, and that of the average value of a photosynthetic rate. Furthermore, the leaf form affecting the optimal arrangement of leave and also having a significant influence also on a photosynthetic rate was shown.

  6. Gas cooler arrangement

    SciTech Connect

    Zabelka, J.

    1985-01-15

    The gas cooler arrangement includes a first pressure vessel in which heat is yielded by radiation and a following convection gas cooler. The pressure vessel of the convection gas cooler includes a faller flue and at least one riser flue for cooling the gas. The flues comprise heat-removing tubes which are parts of a steam generator. The bottom of the pressure vessel contains an ash collection chamber which is connected to the ends of the flues and which can be emptied via a suitable closure element.

  7. X-chromosome-located microRNAs in immunity: might they explain male/female differences? The X chromosome-genomic context may affect X-located miRNAs and downstream signaling, thereby contributing to the enhanced immune response of females.

    PubMed

    Pinheiro, Iris; Dejager, Lien; Libert, Claude

    2011-11-01

    In this paper, we hypothesize that X chromosome-associated mechanisms, which affect X-linked genes and are behind the immunological advantage of females, may also affect X-linked microRNAs. The human X chromosome contains 10% of all microRNAs detected so far in the human genome. Although the role of most of them has not yet been described, several X chromosome-located microRNAs have important functions in immunity and cancer. We therefore provide a detailed map of all described microRNAs located on human and mouse X chromosomes, and highlight the ones involved in immune functions and oncogenesis. The unique mode of inheritance of the X chromosome is ultimately the cause of the immune disadvantage of males and the enhanced survival of females following immunological challenges. How these aspects influence X-linked microRNAs will be a challenge for researchers in the coming years, not only from an evolutionary point of view, but also from the perspective of disease etiology. Copyright © 2011 WILEY Periodicals, Inc.

  8. Nucleoli in a pronuclei-stage mouse embryo are represented by major satellite DNA of interconnecting chromosomes.

    PubMed

    Dozortsev, D; Coleman, A; Nagy, P; Diamond, M P; Ermilov, A; Weier, U; Liyanage, M; Reid, T

    2000-02-01

    To investigate the arrangement of chromosomes within pronuclei-stage mouse zygotes. In vitro study. Academic medical center. None. None. Location of major alpha-satellite DNA, centromeres, and telomeres, and relative location of chromosomes. Chromosomes appeared to be oriented inward by centromeres and to be interconnected by major alpha-satellite DNA, which appeared to be the sole DNA component of the nucleoli. This chromosomal arrangement persisted throughout interphase. Chromosomal painting failed to identify chromosomal ordering within pronuclei. Pronuclear nucleoli are represented by alpha-satellite sequences of interconnecting chromosomes that hold all chromosomes together during interphase. Chromosomes within the pronucleus are randomly positioned relative to each other.

  9. Thermal radiation measuring arrangement

    SciTech Connect

    Berman, H.L.; Sprout, J.C.

    1983-02-08

    In a thermal radiation measuring arrangement, a thermal radiation detector is located at the focal point of a collecting mirror, upon which incident thermal radiation from a surface, such as a building wall, is directed. The thermal radiation detector may be, for example, a thermopile, and provides an output signal having a magnitude proportional to the amount of thermal radiation which it receives. The temperature detection means detects the temperature of the thermal radiation detector and, for example, may detect the cold junction of the thermopile. In a first operating condition, a signal summing means receives the output signal from the thermal radiation detector and the temperature detection means and provides a third output signal proportional to the sum of these first and second output signals. In a second operating condition, a signal biasing means is connected into the signal summing means. The signal biasing means provides a signal to the signal summing means to cause the third output signal to become zero when radiation is received from a reference surface. When the arrangement is in the second operating condition and directed to receive thermal radiation from a second surface different from the reference surface, the signal biasing means maintains the same level of bias to the signal summing means as it did when detecting the radiation from the reference surface.

  10. A chromosome map of the Flavescence doree phytoplasma.

    PubMed

    Malembic-Maher, Sylvie; Constable, Fiona; Cimerman, Agnès; Arnaud, Guillaume; Carle, Patricia; Foissac, Xavier; Boudon-Padieu, Elisabeth

    2008-05-01

    The Flavescence dorée phytoplasma (FD-P), a non-cultivable, plant-pathogenic bacterium of the class Mollicutes, is the causal agent of a quarantine disease affecting vineyards of southern Europe, mainly in southern France and northern Italy. To investigate FD-P diversity and phytoplasma genetic determinants governing the FD-P life cycle, a genome project has been initiated. A physical map of the chromosome of FD-P strain FD92, purified from infected broad beans, was constructed by performing restriction digests of the chromosome and resolving the fragments by PFGE. Single and double digestions of the chromosome with the enzymes SalI, BssHII, MluI and EagI were performed and used to map 13 restriction sites on the FD-P chromosome. The size of the chromosome was calculated to be 671 kbp. Southern blot analyses using cloned phytoplasma probes were carried out to assist in the arrangement of contiguous restriction fragments and to map eight genetic loci, including the two rRNA operons, the tuf, uvrB-degV and secY-map (FD9) genes, the FD2 marker and two orphan sequences (FDDH29 and FDSH05) isolated through subtractive suppression hybridization.

  11. Distance between homologous chromosomes results from chromosome positioning constraints.

    PubMed

    Heride, Claire; Ricoul, Michelle; Kiêu, Kien; von Hase, Johann; Guillemot, Vincent; Cremer, Christoph; Dubrana, Karine; Sabatier, Laure

    2010-12-01

    The organization of chromosomes is important for various biological processes and is involved in the formation of rearrangements often observed in cancer. In mammals, chromosomes are organized in territories that are radially positioned in the nucleus. However, it remains unclear whether chromosomes are organized relative to each other. Here, we examine the nuclear arrangement of 10 chromosomes in human epithelial cancer cells by three-dimensional FISH analysis. We show that their radial position correlates with the ratio of their gene density to chromosome size. We also observe that inter-homologue distances are generally larger than inter-heterologue distances. Using numerical simulations taking radial position constraints into account, we demonstrate that, for some chromosomes, radial position is enough to justify the inter-homologue distance, whereas for others additional constraints are involved. Among these constraints, we propose that nucleolar organizer regions participate in the internal positioning of the acrocentric chromosome HSA21, possibly through interactions with nucleoli. Maintaining distance between homologous chromosomes in human cells could participate in regulating genome stability and gene expression, both mechanisms that are key players in tumorigenesis.

  12. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

    SciTech Connect

    Gong, Yaoqin; Liu, Jin; Warman, M.L.

    1996-07-01

    Osteoporosis-pseudoglioma syndrome (OPS) is an autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness. The pathogenic mechanism is not known. Clinical, biochemical, and microscopic analyses suggest that OPS may be a disorder of matrix homeostasis rather than a disorder of matrix structure. Consequently, identification of the OPS gene and its protein product could provide insights regarding common osteoporotic conditions, such as postmenopausal and senile osteoporosis. As a first step toward determining the cause of OPS, we utilized a combination of traditional linkage analysis and homozygosity mapping to assign the OPS locus to chromosome region 11q12-13. Mapping was accomplished by analyzing 16 DNA samples (seven affected individuals) from three different consanguineous kindreds. Studies in 10 additional families narrowed the candidate region, supported locus homogeneity, and did not detect founder effects. The OPS locus maps to a 13-cM interval between D11S1298 and D11S971 and most likely lies in a 3-cM region between GSTP1 and D11S1296. At present, no strong candidate genes colocalize with OPS. 33 refs., 2 figs., 1 tab.

  13. Molecular population genetics of the OBP83 genomic region in Drosophila subobscura and D. guanche: contrasting the effects of natural selection and gene arrangement expansion in the patterns of nucleotide variation

    PubMed Central

    Sánchez-Gracia, A; Rozas, J

    2011-01-01

    Chromosomal inversion polymorphism play a major role in the evolutionary dynamics of populations and species because of their effects on the patterns of genetic variability in the genomic regions within inversions. Though there is compelling evidence for the adaptive character of chromosomal polymorphisms, the mechanisms responsible for their maintenance in natural populations is not fully understood. For this type of analysis, Drosophila subobscura is a good model species as it has a rich and extensively studied chromosomal inversion polymorphism system. Here, we examine the patterns of DNA variation in two natural populations segregating for chromosomal arrangements that differentially affect the surveyed genomic region; in particular, we analyse both nucleotide substitutions and insertion/deletion variations in the genomic region encompassing the odorant-binding protein genes Obp83a and Obp83b (Obp83 region). We show that the two main gene arrangements are genetically differentiated, but are consistent with a monophyletic origin of inversions. Nevertheless, these arrangements interchange some genetic information, likely by gene conversion. We also find that the frequency spectrum-based tests indicate that the pattern of nucleotide variation is not at equilibrium; this feature probably reflects the rapid increase in the frequency of the new gene arrangement promoted by positive selection (that is an adaptive change). Furthermore, a comparative analysis of polymorphism and divergence patterns reveals a relaxation of the functional constraints at the Obp83b gene, which might be associated with particular ecological or demographic features of the Canary island endemic species D. guanche PMID:20332808

  14. Innovative worktime arrangements.

    PubMed

    Knauth, P

    1998-01-01

    New worktime models can be introduced from an employer's point of view for many reasons. They can extend operational time for better utilization of expensive equipment, provide customer-oriented service hours, adjust operational time to the varying needs of personnel, adhere to a given operational time despite a reduction in workhours, avoid dismissals, or improve job attractiveness for qualified personnel. On the other hand, there are also many reasons for changing traditional worktime models from an employee's point of view. For example, new models can help fit private needs to occupational demands, change worktime according to life's phases, provide more autonomy for the organization of worktime or the choice of worktime model, and allow for reduced capacity due to illness or age. The paper primarily presents examples of innovative worktime models (eg, annual worktime, time-autonomous group, variable worktime, choice between different worktime models) but also discusses the possible negative effects of new worktime arrangements.

  15. Camshaft bearing arrangement

    SciTech Connect

    Aoi, K.; Ozawa, T.

    1986-06-10

    A bearing arrangement is described for the camshaft of an internal combustion engine or the like which camshaft is formed along its length in axial order with a first bearing surface, a first cam lobe, a second bearing surface, a second cam lobe, a third bearing surface, a third cam lobe and a fourth bearing surface, the improvement comprising first bearing means extending around substantially the full circumference of the first bearing surface and journaling the first bearing surface, second bearing means extending around substantially less than the circumference of the second bearing surface and journaling the second bearing surface, third bearing means extending around substantially less than the circumference of the third bearing surface and journaling the third bearing surface, and fourth bearing means extending around substantially the full circumference of the fourth bearing surface and journaling the first bearing surface.

  16. Concentric differential gearing arrangement

    NASA Technical Reports Server (NTRS)

    Zeiger, R. J.; Gerdts, J. C. (Inventor)

    1974-01-01

    Two input members and two concentric rotatable output members are interconnected by a planetary gear arrangement. The first input drives directly the first output. The second input engages a carrier having the planetary gears affixed thereto. Rotation of the carriage causes rotation of the central sun gear of the planetary gear system. The sun gear is journaled to the carriage and is drivingly connected to the second output through a direction reversing set of bevel gears. The first input drive member includes a ring gear drivingly connected to the planetary gears for driving the second output member in the same direction and by the same amount as the first output member. Motion of the first input results in equal motion of the two outputs while input motion of the second input results in movement of the second output relative to the first output. This device is useful where non-interacting two-axis control of remote gimbaled systems is required.

  17. Hybrid drive arrangement

    SciTech Connect

    Oetting, H.; Heidemeyer, P.

    1985-02-19

    The invention concerns a hybrid drive arrangement for vehicles, with an engine drive and with a flywheel storage drive, which includes a storage flywheel supported concentrically relative to the crankshaft for storing kinetic energy during such operations as braking operations of the vehicle. Both drives can be connected with the driving wheels of the vehicle by means of a common, preferably continuously variable, transmission. In order to obtain a faster response of the engine drive on suddenly occurring power demands and in order to achieve a more favorable design of the storage flywheel, there is to be provided in accordance with the invention, in addition to a storage flywheel, an engine flywheel associated with the reciprocating-piston internal combustion engine, which compensates for torque irregularities of the engine. The engine flywheel can be connected with a crankshaft by means of a first clutch and with the storage flywheel by means of at least one further clutch.

  18. Chromosomal Flexibility

    ERIC Educational Resources Information Center

    Journal of College Science Teaching, 2005

    2005-01-01

    Scientists have shown that a genetic element on one chromosome may direct gene activity on another. Howard Hughes Medical Institute (HHMI) researchers report that a multitasking master-control region appears to over-see both a set of its own genes and a related gene on a nearby chromosome. The findings reinforce the growing importance of location…

  19. Chromosomal Flexibility

    ERIC Educational Resources Information Center

    Journal of College Science Teaching, 2005

    2005-01-01

    Scientists have shown that a genetic element on one chromosome may direct gene activity on another. Howard Hughes Medical Institute (HHMI) researchers report that a multitasking master-control region appears to over-see both a set of its own genes and a related gene on a nearby chromosome. The findings reinforce the growing importance of location…

  20. Modeling Chromosomes

    ERIC Educational Resources Information Center

    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…

  1. Modeling Chromosomes

    ERIC Educational Resources Information Center

    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…

  2. Mutations in the Chromosomal Passenger Complex and the Condensin Complex Differentially Affect Synaptonemal Complex Disassembly and Metaphase I Configuration in Drosophila Female Meiosis

    PubMed Central

    Resnick, Tamar D.; Dej, Kimberley J.; Xiang, Youbin; Hawley, R. Scott; Ahn, Caroline; Orr-Weaver, Terry L.

    2009-01-01

    Production of haploid gametes relies on the specially regulated meiotic cell cycle. Analyses of the role of essential mitotic regulators in meiosis have been hampered by a shortage of appropriate alleles in metazoans. We characterized female-sterile alleles of the condensin complex component dcap-g and used them to define roles for condensin in Drosophila female meiosis. In mitosis, the condensin complex is required for sister-chromatid resolution and contributes to chromosome condensation. In meiosis, we demonstrate a role for dcap-g in disassembly of the synaptonemal complex and for proper retention of the chromosomes in a metaphase I-arrested state. The chromosomal passenger complex also is known to have mitotic roles in chromosome condensation and is required in some systems for localization of the condensin complex. We used the QA26 allele of passenger component incenp to investigate the role of the passenger complex in oocyte meiosis. Strikingly, in incenpQA26 mutants maintenance of the synaptonemal complex is disrupted. In contrast to the dcap-g mutants, the incenp mutation leads to a failure of paired homologous chromosomes to biorient, such that bivalents frequently orient toward only one pole in prometaphase and metaphase I. We show that incenp interacts genetically with ord, suggesting an important functional relationship between them in meiotic chromosome dynamics. The dcap-g and incenp mutations cause maternal effect lethality, with embryos from mutant mothers arrested in the initial mitotic divisions. PMID:19104074

  3. Mutations in the chromosomal passenger complex and the condensin complex differentially affect synaptonemal complex disassembly and metaphase I configuration in Drosophila female meiosis.

    PubMed

    Resnick, Tamar D; Dej, Kimberley J; Xiang, Youbin; Hawley, R Scott; Ahn, Caroline; Orr-Weaver, Terry L

    2009-03-01

    Production of haploid gametes relies on the specially regulated meiotic cell cycle. Analyses of the role of essential mitotic regulators in meiosis have been hampered by a shortage of appropriate alleles in metazoans. We characterized female-sterile alleles of the condensin complex component dcap-g and used them to define roles for condensin in Drosophila female meiosis. In mitosis, the condensin complex is required for sister-chromatid resolution and contributes to chromosome condensation. In meiosis, we demonstrate a role for dcap-g in disassembly of the synaptonemal complex and for proper retention of the chromosomes in a metaphase I-arrested state. The chromosomal passenger complex also is known to have mitotic roles in chromosome condensation and is required in some systems for localization of the condensin complex. We used the QA26 allele of passenger component incenp to investigate the role of the passenger complex in oocyte meiosis. Strikingly, in incenp(QA26) mutants maintenance of the synaptonemal complex is disrupted. In contrast to the dcap-g mutants, the incenp mutation leads to a failure of paired homologous chromosomes to biorient, such that bivalents frequently orient toward only one pole in prometaphase and metaphase I. We show that incenp interacts genetically with ord, suggesting an important functional relationship between them in meiotic chromosome dynamics. The dcap-g and incenp mutations cause maternal effect lethality, with embryos from mutant mothers arrested in the initial mitotic divisions.

  4. Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.

    PubMed

    Ogata, Tsutomu; Kagami, Masayo

    2016-02-01

    Human chromosome 14q32.2 carries paternally expressed genes including DLK1 and RTL1, and maternally expressed genes including MEG3 and RTL1as, along with the germline-derived DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and the postfertilization-derived MEG3-DMR. Consistent with this, paternal uniparental disomy 14 (upd(14)pat), and epimutations (hypermethylations) and microdeletions affecting the IG-DMR and/or the MEG3-DMR of maternal origin, result in a unique phenotype associated with characteristic face, a small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly and polyhydramnios. Recently, the name 'Kagami-Ogata syndrome' (KOS) has been approved for this clinically recognizable disorder. Here, we review the current knowledge about KOS. Important findings include the following: (1) the facial 'gestalt' and the increased coat-hanger angle constitute pathognomonic features from infancy through childhood/puberty; (2) the unmethylated IG-DMR and MEG3-DMR of maternal origin function as the imprinting control centers in the placenta and body respectively, with a hierarchical interaction regulated by the IG-DMR for the methylation pattern of the MEG3-DMR in the body; (3) RTL1 expression level becomes ~2.5 times increased in the absence of functional RTL1as-encoded microRNAs that act as a trans-acting repressor for RTL1; (4) excessive RTL1 expression and absent MEG expression constitute the primary underlying factor for the phenotypic development; and (5) upd(14)pat accounts for approximately two-thirds of KOS patients, and epimutations and microdeletions are identified with a similar frequency. Furthermore, we refer to diagnostic and therapeutic implications.

  5. Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

    PubMed Central

    Ogata, Tsutomu; Kagami, Masayo

    2016-01-01

    Human chromosome 14q32.2 carries paternally expressed genes including DLK1 and RTL1, and maternally expressed genes including MEG3 and RTL1as, along with the germline-derived DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and the postfertilization-derived MEG3-DMR. Consistent with this, paternal uniparental disomy 14 (upd(14)pat), and epimutations (hypermethylations) and microdeletions affecting the IG-DMR and/or the MEG3-DMR of maternal origin, result in a unique phenotype associated with characteristic face, a small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly and polyhydramnios. Recently, the name ‘Kagami–Ogata syndrome' (KOS) has been approved for this clinically recognizable disorder. Here, we review the current knowledge about KOS. Important findings include the following: (1) the facial ‘gestalt' and the increased coat-hanger angle constitute pathognomonic features from infancy through childhood/puberty; (2) the unmethylated IG-DMR and MEG3-DMR of maternal origin function as the imprinting control centers in the placenta and body respectively, with a hierarchical interaction regulated by the IG-DMR for the methylation pattern of the MEG3-DMR in the body; (3) RTL1 expression level becomes ~2.5 times increased in the absence of functional RTL1as-encoded microRNAs that act as a trans-acting repressor for RTL1; (4) excessive RTL1 expression and absent MEG expression constitute the primary underlying factor for the phenotypic development; and (5) upd(14)pat accounts for approximately two-thirds of KOS patients, and epimutations and microdeletions are identified with a similar frequency. Furthermore, we refer to diagnostic and therapeutic implications. PMID:26377239

  6. Significant differences in fertility between dairy cows selected for one QTL located on bovine chromosome 3 are not attributable to energy balance, although eating behaviour is affected.

    PubMed

    Coyral-Castel, S; Faverdin, P; Ramé, C; Fréret, S; Guillaume, D; Fritz, S; Dupont, J

    2013-04-01

    Improvement of reproduction in dairy cows has become a major challenge in dairy production. We have recently shown that dairy cows carrying the 'fertil-' haplotype for one quantitative trait locus (QTL), affecting female fertility and located on the bovine chromosome 3, had a significantly lower conception rate after the first artificial insemination than cows carrying the 'fertil+' haplotype. The objective of this paper was to study other phenotypic modifications linked to this QTL. In the present study, 23 'fertil+' and 18 'fertil-' cows were characterized for live weight, milk production, food intake, eating behaviour and plasma metabolites. These parameters were measured during the first lactation, from calving to 40 weeks postpartum (wkpp). In the first 7 weeks of lactation, 'fertil+' primiparous cows had a significantly higher live BW and milk production than 'fertil-' cows. Dry matter intake tended to be slightly higher for 'fertil+' than for 'fertil-' primiparous cows in this period. However, energy balance was similar for the two haplotypes in the whole lactation, except in the first wkpp, and consequently, could not explain their different fertility. The major observation concerned the eating behaviour. 'Fertil+' primiparous cows had a significantly lower eating rate than 'fertil-' cows during the 40 weeks of lactation. In parallel, 'fertil+' cows spent significantly more time at the feeder for a similar number of visits than 'fertil-' cows. Furthermore, no differences in plasma concentrations of non-esterified fatty acids and insulin were observed between the two haplotypes. Plasma glucose was significantly lower in 'fertil+' than in 'fertil-' cows in the second wkpp. Taken together, our results show that 'fertil+' and 'fertil-' dairy cows, with different fertility, have also different eating behaviour without any variation in energy balance, except in the first week of lactation.

  7. Boat electrofishing relative to anode arrangement

    USGS Publications Warehouse

    Miranda, L.E.; Kratochvil, M.

    2008-01-01

    We assessed the effect of boom (i.e., anode) arrangement (a single boom and double booms spaced 1.3, 1.9, and 3.2 m apart) on the characteristics of the electric field formed ahead of an electrofishing boat as well as on fish catch. Anode arrangement affected the lengthwise and crosswise characteristics of the field. As a general rule, rearranging the anodes from a single boom located centrally to a double-boom system with broadly separated anodes shifted the strength of the field outward (away from the center) and forward (away from the boat). The highest voltage gradients occurred when the anodes had the greatest separation. Catch rates varied by boom arrangement, increasing as boom separation increased. Differences in species and length selectivity with respect to boom arrangement were minor. We suggest that the double-boom arrangement with the booms placed about 1.9 m apart (but no more than about 2.5 m) is suitable for most electrofishing applications. ?? Copyright by the American Fisheries Society 2008.

  8. Solar shutter arrangement

    SciTech Connect

    Fulkerson, P.L.

    1988-02-02

    In a structure having a roof with a skylight including a glass panel which transmits solar energy, a shutter arrangement supported on the roof is described comprising an insulative flat one-piece solid shutter in the form of a panel selectively and linearly slidable on tracks which conceal the side edges thereof from a position blocking transmittal of solar energy through the glass panel of the skylight into an area within the structure to a position permitting transmittal of solar energy through the glass panel of the skylight into the area within the structure. The skylight presents a space between the glass panel and the selectively and linearly slidable insulative flat one-piece solid shutter, where the latter serves as the selective inner wall of the space contiguous with the area within the structure and the glass panel serves as the fixed outer wall of the space, where temperature responsive means is disposed within the space and in direct engagement with the inner surface of the glass panel, where the temperature responsive means is a black thermocouple operating a motor in a driving relationship with the insulative flat one-piece solid shutter. The insulative flat one-piece solid shutter is supported by a cable secured to a rotatable shaft controlled by the motor, where bi-directional movement of the rotatable shaft achieves raising and lowering of the insulative flat one-piece solid shutter to each of the solar energy blocking and transmittal positions, and where the insulative flat one-piece solid shutter includes a reflective surface facing the skylight and a decorative surface facing the area within the structure.

  9. Transmission gearing arrangement

    SciTech Connect

    Klemen, D.

    1987-08-04

    A gearing arrangement is described for an automotive power transmission comprising: an input shaft and an output shaft; first, second, and third simple planetary gear sets. Each has a sun gear, a ring gear, and a planet gears meshing with the sun and the ring gears and rotatably supported on a planet carrier; means rigidly interconnecting the ring gear of the third gear set and the carrier of the second gear set; means rigidly interconnecting the ring gear of the second gear set and the carrier of the first gear set; means rigidly connecting the output shaft and the carrier of the third gear set; a first intermediate shaft rigidly interconnecting the sun gears of the second and the third gear sets for unitary rotation; a second intermediate shaft rigidly connected to the carrier of the second gear set; a third intermediate shaft continuously connected to the input shaft and to the sun gear of the first gear set; first, second, and third brake means operative to selectively brake rotation of the ring gears of the first, the second, and the third gear sets, respectively; a first rotating clutch selectively operable to connect the input shaft and the first intermediate shaft for unitary rotation; a second rotating clutch selectively operable to connect the input shaft and the second intermediate shaft for unitary rotation; a fourth simple planetary gear set including a sun gear and a ring gear and planet gears meshing with the sun and the ring gears and rotatably supported on a planet carrier; means rigidly connecting the sun gear of the fourth gear set to the third intermediate shaft; means rigidly connecting the ring gear of the fourth gear set to the carrier of the first gear set; and a fourth brake means selectively operable to brake the carrier of the fourth gear set. The nine forward ratios are obtainable while preserving a single transition shifting over the entire nine forward ratios.

  10. Chromosome Abnormalities

    MedlinePlus

    ... division. There are two kinds of cell division, mitosis and meiosis. Mitosis results in two cells that are duplicates of ... 23 paired sets of chromosomes in nonreproductive cells. Mitosis: Cell division resulting in cells that have paired ...

  11. The Aesthetics of Behavioral Arrangements

    ERIC Educational Resources Information Center

    Hineline, Philip N.

    2005-01-01

    With their origins in scientific validation, behavior-analytic applications have understandably been developed with an engineering rather than a crafting orientation. Nevertheless, traditions of craftsmanship can be instructive for devising aesthetically pleasing arrangements--arrangements that people will try, and having tried, will choose to…

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

    PubMed

    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.

  13. A systematic association mapping on chromosome 6q in bipolar affective disorder--evidence for the melanin-concentrating-hormone-receptor-2 gene as a risk factor for bipolar affective disorder.

    PubMed

    Abou Jamra, Rami; Schulze, Thomas G; Becker, Tim; Brockschmidt, Felix F; Green, Elaine; Alblas, Margrieta A; Wendland, Jens R; Adli, Mazda; Grozeva, Detelina; Strohmeier, Jana; Georgi, Alexander; Craddock, Nick; Propping, Peter; Rietschel, Marcella; Nöthen, Markus M; Cichon, Sven; Schumacher, Johannes

    2010-06-05

    Strong evidence of linkage between chromosomal region 6q16-q22 and bipolar affective disorder (BPAD) has previously been reported. We conducted a systematic association mapping of the 6q-linkage interval using 617 SNP markers in a BPAD case-control sample of German descent (cases = 330, controls = 325). In this screening step, 46 SNPs showed nominally significant BPAD-association (P-values between 0.0007 and 0.0484). Although none of the 46 SNPs survived correction for multiple testing, they were genotyped in a second and ethnically matched BPAD sample (cases = 328, controls = 397). At the melanin-concentrating-hormone-receptor-2 (MCHR2) gene, we found nominal association in both the initial and second BPAD samples (combined P = 0.008). This finding was followed up by the genotyping of 17 additional MCHR2-SNPs in the combined sample in order to define our findings more precisely. We found that the MCHR2-locus can be divided into three different haplotype-blocks, and observed that the MCHR2-association was most pronounced in BPAD male patients with psychotic symptoms. In two neighboring blocks, putative risk-haplotypes were found to be 7% more frequent in patients (block II: 23.3% vs. 16.2%, P = 0.005, block III: 39.2% vs. 32.0%, P = 0.024), whereas the putative protective haplotypes were found to be 5-8% less frequent in patients (block II: 11.6% vs. 16.4%, P = 0.041, block III: 30.0% vs. 38.8%, P = 0.007). The corresponding odds ratios (single-marker analysis) ranged between 1.25 and 1.46. Our findings may indicate that MCHR2 is a putative risk factor for BPAD. These findings should be interpreted with caution and replicated in independent BPAD samples.

  14. CHROMOSOME MICROMANIPULATION

    PubMed Central

    Nicklas, R. Bruce; Koch, Carol A.

    1969-01-01

    Kinetochore reorientation is the critical process ensuring normal chromosome distribution. Reorientation has been studied in living grasshopper spermatocytes, in which bivalents with both chromosomes oriented to the same pole (unipolar orientation) occur but are unstable: sooner or later one chromosome reorients, the stable, bipolar orientation results, and normal anaphase segregation to opposite poles follows. One possible source of stability in bipolar orientations is the normal spindle forces toward opposite poles, which slightly stretch the bivalent. This tension is lacking in unipolar orientations because all the chromosomal spindle fibers and spindle forces are directed toward one pole. The possible role of tension has been tested directly by micromanipulation of bivalents in unipolar orientation to artificially create the missing tension. Without exception, such bivalents never reorient before the tension is released; a total time "under tension" of over 5 hr has been accumulated in experiments on eight bivalents in eight cells. In control experiments these same bivalents reoriented from a unipolar orientation within 16 min, on the average, in the absence of tension. Controlled reorientation and chromosome segregation can be explained from the results of these and related experiments. PMID:5824068

  15. Designing efficient surveys: spatial arrangement of sample points for detection of invasive species

    Treesearch

    Ludek Berec; John M. Kean; Rebecca Epanchin-Niell; Andrew M. Liebhold; Robert G. Haight

    2015-01-01

    Effective surveillance is critical to managing biological invasions via early detection and eradication. The efficiency of surveillance systems may be affected by the spatial arrangement of sample locations. We investigate how the spatial arrangement of sample points, ranging from random to fixed grid arrangements, affects the probability of detecting a target...

  16. Floral arrangements and hummingbird feeding.

    PubMed

    Hainsworth, F Reed; Mercier, Theresa; Wolf, Larry L

    1983-05-01

    The influence of simulated inflorescence design on feeding behavior of 3 male Eugenes fulgens (Rivoli's hummingbird) and one female Lampornis clemenciae (Bluethroated hummingbird) was studied in the laboratory using artificial flowers. Five two-dimensional and three three-dimensional arrangements provided constant rewards per artificial flower. Visits to two-dimensional arrangements had more flower visits per feeding bout, proportionally more flower revisits, and shorter time between flowers than visits to three-dimensional arrangements. This suggests inflorescence design may influence pollen movement by hummingbirds.

  17. Chromosome dynamics in multichromosome bacteria.

    PubMed

    Jha, Jyoti K; Baek, Jong Hwan; Venkova-Canova, Tatiana; Chattoraj, Dhruba K

    2012-07-01

    On the basis of limited information, bacteria were once assumed to have no more than one chromosome. In the era of genomics, it has become clear that some, like eukaryotes, have more than one chromosome. Multichromosome bacteria provide opportunities to investigate how split genomes emerged, whether the individual chromosomes communicate to coordinate their replication and segregation, and what selective advantages split genomes might provide. Our current knowledge of these topics comes mostly from studies in Vibrio cholerae, which has two chromosomes, chr1 and chr2. Chr1 carries out most of the house-keeping functions and is considered the main chromosome, whereas chr2 appears to have originated from a plasmid and has acquired genes of mostly unknown origin and function. Nevertheless, unlike plasmids, chr2 replicates once and only once per cell cycle, like a bona fide chromosome. The two chromosomes replicate and segregate using separate programs, unlike eukaryotic chromosomes. They terminate replication synchronously, suggesting that there might be communication between them. Replication of the chromosomes is affected by segregation genes but in a chromosome specific fashion, a new development in the field of DNA replication control. The split genome allows genome duplication to complete in less time and with fewer replication forks, which could be beneficial for genome maintenance during rapid growth, which is the norm for V. cholerae in broth cultures and in the human host. In the latter, the expression of chr2 genes increases preferentially. Studies of chromosome maintenance in multichromosomal bacteria, although in their infancy, are already broadening our view of chromosome biology. This article is part of a Special Issue entitled: Chromatin in time and space. Published by Elsevier B.V.

  18. A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

    PubMed

    Kriek, Marjolein; Szuhai, Karoly; Kant, Sarina G; White, Stefan J; Dauwerse, Hans; Fiegler, Heike; Carter, Nigel P; Knijnenburg, Jeroen; den Dunnen, Johan T; Tanke, Hans J; Breuning, Martijn H; Rosenberg, Carla

    2006-08-01

    The presence of highly homologous sequences, known as low copy repeats, predisposes for unequal recombination within the 22q11 region. This can lead to genomic imbalances associated with several known genetic disorders. We report here a developmentally delayed patient carrying different rearrangements on both chromosome 22 homologues, including a previously unreported rearrangement within the 22q11 region. One homologue carries a deletion of the proximal part of chromosome band 22q11. To our knowledge, a 'pure' deletion of this region has not been described previously. Four copies of this 22q11 region, however, are associated with Cat eye syndrome (CES). While the phenotypic impact of this deletion is unclear, familial investigation revealed five normal relatives carrying this deletion, suggesting that haplo-insufficiency of the CES region has little clinical relevance. The other chromosome 22 homologue carries a duplication of the Velocardiofacial/DiGeorge syndrome (VCFS/DGS) region. In addition, a previously undescribed deletion of 22q12.1, located in a relatively gene-poor region, was identified. As the clinical features of patients suffering from a duplication of the VCFS/DGS region have proven to be extremely variable, it is impossible to postulate as to the contribution of the 22q12.1 deletion to the phenotype of the patient. Additional patients with a deletion within this region are needed to establish the consequences of this copy number alteration. This study highlights the value of using different genomic approaches to unravel chromosomal alterations in order to study their phenotypic impact.

  19. Loci on chromosomes 1A and 2A affect resistance to tan (yellow) spot in wheat populations not segregating for tsn1.

    PubMed

    Shankar, Manisha; Jorgensen, Dorthe; Taylor, Julian; Chalmers, Ken J; Fox, Rebecca; Hollaway, Grant J; Neate, Stephen M; McLean, Mark S; Vassos, Elysia; Golzar, Hossein; Loughman, Robert; Mather, Diane E

    2017-09-14

    QTL for tan spot resistance were mapped on wheat chromosomes 1A and 2A. Lines were developed with resistance alleles at these loci and at the tsn1 locus on chromosome 5B. These lines expressed significantly higher resistance than the parent with tsn1 only. Tan spot (syn. yellow spot and yellow leaf spot) caused by Pyrenophora tritici-repentis is an important foliar disease of wheat in Australia. Few resistance genes have been mapped in Australian germplasm and only one, known as tsn1 located on chromosome 5B, is known in Australian breeding programs. This gene confers insensitivity to the fungal effector ToxA. The main aim of this study was to map novel resistance loci in two populations: Calingiri/Wyalkatchem, which is fixed for the ToxA-insensitivity allele tsn1, and IGW2574/Annuello, which is fixed for the ToxA-sensitivity allele Tsn1. A second aim was to combine new loci with tsn1 to develop lines with improved resistance. Tan spot severity was evaluated at various growth stages and in multiple environments. Symptom severity traits exhibited quantitative variation. The most significant quantitative trait loci (QTL) were detected on chromosomes 2A and 1A. The QTL on 2A explained up to 29.2% of the genotypic variation in the Calingiri/Wyalkatchem population with the resistance allele contributed by Wyalkatchem. The QTL on 1A explained up to 28.1% of the genotypic variation in the IGW2574/Annuello population with the resistance allele contributed by Annuello. The resistance alleles at both QTL were successfully combined with tsn1 to develop lines that express significantly better resistance at both seedling and adult plant stages than Calingiri which has tsn1 only.

  20. Seal arrangement for intersecting conduits

    DOEpatents

    Goedicke, Friedrich E.

    1980-01-01

    A seal arrangement in which two intersecting conduits are sealed from each other. A sleeve insert is locked in a sealed relationship within one conduit enclosing the openings of the intersecting conduit.

  1. Molecular analyses and identification of promising candidate genes for loci on mouse chromosome 1 affecting alcohol physical dependence and associated withdrawal.

    PubMed

    Denmark, D L; Buck, K J

    2008-07-01

    We recently mapped quantitative trait loci (QTLs) with large effects on predisposition to physical dependence and associated withdrawal severity following chronic and acute alcohol exposure (Alcdp1/Alcw1) to a 1.1-Mb interval of mouse chromosome 1 syntenic with human chromosome 1q23.2-23.3. Here, we provide a detailed analysis of the genes within this interval and show that it contains 40 coding genes, 17 of which show validated genotype-dependent transcript expression and/or non-synonymous coding sequence variation that may underlie the influence of Alcdp1/Alcw1 on ethanol dependence and associated withdrawal. These high priority candidates are involved in diverse cellular functions including intracellular trafficking, oxidative homeostasis, mitochondrial respiration, and extracellular matrix dynamics, and indicate both established and novel aspects of the neurobiological response to ethanol. This work represents a substantial advancement toward identification of the gene(s) that underlies the phenotypic effects of Alcdp1/Alcw1. Additionally, a multitude of QTLs for a variety of complex traits, including diverse behavioral responses to ethanol, have been mapped in the vicinity of Alcdp1/Alcw1, and as many as four QTLs on human chromosome 1q have been implicated in human mapping studies for alcoholism and associated endophenotypes. Thus, our results will be primary to further efforts to identify genes involved in a wide variety of behavioral responses to alcohol and may directly facilitate progress in human alcoholism genetics.

  2. migS, a cis-acting site that affects bipolar positioning of oriC on the Escherichia coli chromosome

    PubMed Central

    Yamaichi, Yoshiharu; Niki, Hironori

    2004-01-01

    During replication of the Escherichia coli chromosome, the replicated Ori domains migrate towards opposite cell poles, suggesting that a cis-acting site for bipolar migration is located in this region. To identify this cis-acting site, a series of mutants was constructed by splitting subchromosomes from the original chromosome. One mutant, containing a 720 kb subchromosome, was found to be defective in the bipolar positioning of oriC. The creation of deletion mutants allowed the identification of migS, a 25 bp sequence, as the cis-acting site for the bipolar positioning of oriC. When migS was located at the replication terminus, the chromosomal segment showed bipolar positioning. migS was able to rescue bipolar migration of plasmid DNA containing a mutation in the SopABC partitioning system. Interestingly, multiple copies of the migS sequence on a plasmid in trans inhibited the bipolar positioning of oriC. Taken together, these findings indicate that migS plays a crucial role in the bipolar positioning of oriC. In addition, real-time analysis of the dynamic morphological changes of nucleoids in wild-type and migS mutants suggests that bipolar positioning of the replicated oriC contributes to nucleoid organization. PMID:14685268

  3. Creating flexible work arrangements through idiosyncratic deals.

    PubMed

    Hornung, Severin; Rousseau, Denise M; Glaser, Jürgen

    2008-05-01

    A survey of 887 employees in a German government agency assessed the antecedents and consequences of idiosyncratic arrangements individual workers negotiated with their supervisors. Work arrangements promoting the individualization of employment conditions, such as part-time work and telecommuting, were positively related to the negotiation of idiosyncratic deals ("i-deals"). Worker personal initiative also had a positive effect on i-deal negotiation. Two types of i-deals were studied: flexibility in hours of work and developmental opportunities. Flexibility i-deals were negatively related and developmental i-deals positively related to work-family conflict and working unpaid overtime. Developmental i-deals were also positively related to increased performance expectations and affective organizational commitment, while flexibility i-deals were unrelated to either. PsycINFO Database Record (c) 2008 APA, all rights reserved.

  4. Formation of chromosome aberrations in androgenetic rainbow trout Oncorhynchus mykiss.

    PubMed

    Ocalewicz, K; Dobosz, S; Kuzminski, H; Goryczko, K

    2009-12-01

    Residues of maternal nuclear DNA in the form of chromosome fragments were observed in the healthy and morphologically normal androgenetic rainbow trout Oncorhynchus mykiss. A hypothetical model for formation of chromosome re-arrangements caused by the incomplete maternal nuclear DNA inactivation in the androgenetic rainbow trout was proposed in the present paper.

  5. Organization of the bacterial chromosome.

    PubMed Central

    Krawiec, S; Riley, M

    1990-01-01

    Recent progress in studies on the bacterial chromosome is summarized. Although the greatest amount of information comes from studies on Escherichia coli, reports on studies of many other bacteria are also included. A compilation of the sizes of chromosomal DNAs as determined by pulsed-field electrophoresis is given, as well as a discussion of factors that affect gene dosage, including redundancy of chromosomes on the one hand and inactivation of chromosomes on the other hand. The distinction between a large plasmid and a second chromosome is discussed. Recent information on repeated sequences and chromosomal rearrangements is presented. The growing understanding of limitations on the rearrangements that can be tolerated by bacteria and those that cannot is summarized, and the sensitive region flanking the terminator loci is described. Sources and types of genetic variation in bacteria are listed, from simple single nucleotide mutations to intragenic and intergenic recombinations. A model depicting the dynamics of the evolution and genetic activity of the bacterial chromosome is described which entails acquisition by recombination of clonal segments within the chromosome. The model is consistent with the existence of only a few genetic types of E. coli worldwide. Finally, there is a summary of recent reports on lateral genetic exchange across great taxonomic distances, yet another source of genetic variation and innovation. PMID:2087223

  6. Chromosome Microarray.

    PubMed

    Anderson, Sharon

    2016-01-01

    Over the last half century, knowledge about genetics, genetic testing, and its complexity has flourished. Completion of the Human Genome Project provided a foundation upon which the accuracy of genetics, genomics, and integration of bioinformatics knowledge and testing has grown exponentially. What is lagging, however, are efforts to reach and engage nurses about this rapidly changing field. The purpose of this article is to familiarize nurses with several frequently ordered genetic tests including chromosomes and fluorescence in situ hybridization followed by a comprehensive review of chromosome microarray. It shares the complexity of microarray including how testing is performed and results analyzed. A case report demonstrates how this technology is applied in clinical practice and reveals benefits and limitations of this scientific and bioinformatics genetic technology. Clinical implications for maternal-child nurses across practice levels are discussed.

  7. Chromosome territory positioning of conserved homologous chromosomes in different primate species.

    PubMed

    Mora, Laia; Sánchez, Inma; Garcia, Montserrat; Ponsà, Montserrat

    2006-10-01

    Interphase chromosomes form distinct spatial domains called chromosome territories (CTs). The position of CTs is known not to be at random and is related to chromosome size and gene density. To elucidate how CTs are arranged in primate proliferating fibroblasts and whether the radial position of CTs has been conserved during primate evolution, several specific CTs corresponding to conserved chromosomes since the Simiiformes (human 6, 12, 13, and 17 homologous CTs) have been studied in 3D preserved interphase nuclei from proliferant cells of two New World monkey species (Lagothrix lagothricha, Saimiri sciureus) and in human by three-dimensional fluorescent in situ hybridization (3D-FISH). Our results indicate that both gene-density and chromosome size influence chromosome territory arrangement in the nucleus. This influence is greater for chromosome-size than for gene-density in the three species studied. A comparison of the radial position of a given CT and its homolog in the species analyzed suggests similar CT distributions for homologous chromosomes. Our statistical analysis using the logit model shows that such homologous positionings cannot, however, be considered identical.

  8. Chromosome Analysis

    NASA Technical Reports Server (NTRS)

    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.

  9. Improved microgrid arrangement for integrated imaging polarimeters.

    PubMed

    LeMaster, Daniel A; Hirakawa, Keigo

    2014-04-01

    For almost 20 years, microgrid polarimetric imaging systems have been built using a 2×2 repeating pattern of polarization analyzers. In this Letter, we show that superior spatial resolution is achieved over this 2×2 case when the analyzers are arranged in a 2×4 repeating pattern. This unconventional result, in which a more distributed sampling pattern results in finer spatial resolution, is also achieved without affecting the conditioning of the polarimetric data-reduction matrix. Proof is provided theoretically and through Stokes image reconstruction of synthesized data.

  10. Gene by Environment Interaction Linking the Chromosome 15q25 Locus With Cigarette Consumption and Lung Cancer Susceptibility — Are African American Affected Differently?

    PubMed Central

    Hopkins, R.J.; Young, R.P.

    2016-01-01

    The majority of lung cancer cases result from complex interactions between smoking exposure, genetic susceptibility and a person's immune response to chronic inflammation or lung remodelling. Epidemiological studies confirm that susceptibility to developing chronic obstructive pulmonary disease (COPD), especially emphysema, is also closely linked to lung cancer susceptibility. Genetic epidemiology studies have consistently reported associations between the chromosome 15q25 locus with lung cancer and COPD. In addition, studies show this locus to be independently associated with cigarette consumption and nicotine addiction in a dose-response manner, primarily at lower levels of cigarette consumption. Studies that measure both cigarette consumption and lung function, together with extensive genotype analysis, will be needed to further unravel these complex relationships. PMID:27014742

  11. Solar collector and arrangements thereof

    SciTech Connect

    Nguyen, H.N.

    1985-03-19

    In an all liquid flat plate type solar collector having risers therein, the risers having inlet and outlet portions, the improvement comprises providing a single header for servicing the risers and arranging the risers inlet and outlet portions within the header so as to obtain flow through the risers using the velocity effect or dynamic effect of flow through the header.

  12. Phyllotactic arrangements of optical elements

    NASA Astrophysics Data System (ADS)

    Horacek, M.; Meluzin, P.; Kratky, S.; Matejka, M.; Kolarik, V.

    2017-05-01

    Phyllotaxy studies arrangements of biological entities, e.g. a placement of seeds in the flower head. Vogel (1979) presented a phyllotactic model based on series of seeds ordered along a primary spiral. This arrangement allows each seed to occupy the same area within a circular flower head. Recently, a similar arrangement of diffraction primitives forming a planar relief diffractive structure was presented. The planar relief structure was used for benchmarking and testing purposes of the electron beam writer patterning process. This contribution presents the analysis of local periods and azimuths of optical phyllotactic arrangements. Two kinds of network characteristic triangles are introduced. If the discussed planar structure has appropriate size and density, diffraction of the incoming light creates characteristic a phyllotactic diffraction pattern. Algorithms enabling the analysis of such behavior were developed and they were validated by fabricated samples of relief structures. Combined and higher diffraction orders are also analyzed. Different approaches enabling the creation of phyllotactic diffractive patterns are proposed. E-beam lithography is a flexible technology for various diffraction gratings origination. The e-beam patterning typically allows for the creation of optical diffraction gratings in the first diffraction order. Nevertheless, this technology enables also more complex grating to be prepared, e.g. blazed gratings and zero order gratings. Moreover, the mentioned kinds of gratings can be combined within one planar relief structure. The practical part of the presented work deals with the nano patterning of such structures by using two different types of the e-beam pattern generators.

  13. Special Issue: Flexible Work Arrangements.

    ERIC Educational Resources Information Center

    Olmstead, Barney, Ed.

    1996-01-01

    Section 1 contains five chapters on flexible work arrangements, self-employment, working from home, part-time professionals, job sharing, and temporary employment. Section 2 includes reviews of four books on working flexibly, concluding with a list of 23 additional readings. (SK)

  14. 29 CFR 794.117 - Effect of franchises and other arrangements.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 29 Labor 3 2010-07-01 2010-07-01 false Effect of franchises and other arrangements. 794.117... âindependently Owned and Controlled Local Enterpriseâ § 794.117 Effect of franchises and other arrangements. Whether a franchise or other contractual arrangement affects the status of the enterprise as...

  15. 29 CFR 794.117 - Effect of franchises and other arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 29 Labor 3 2014-07-01 2014-07-01 false Effect of franchises and other arrangements. 794.117... âindependently Owned and Controlled Local Enterpriseâ § 794.117 Effect of franchises and other arrangements. Whether a franchise or other contractual arrangement affects the status of the enterprise as...

  16. 29 CFR 794.117 - Effect of franchises and other arrangements.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 29 Labor 3 2012-07-01 2012-07-01 false Effect of franchises and other arrangements. 794.117... âindependently Owned and Controlled Local Enterpriseâ § 794.117 Effect of franchises and other arrangements. Whether a franchise or other contractual arrangement affects the status of the enterprise as...

  17. 29 CFR 794.117 - Effect of franchises and other arrangements.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 29 Labor 3 2013-07-01 2013-07-01 false Effect of franchises and other arrangements. 794.117... âindependently Owned and Controlled Local Enterpriseâ § 794.117 Effect of franchises and other arrangements. Whether a franchise or other contractual arrangement affects the status of the enterprise as...

  18. 29 CFR 794.117 - Effect of franchises and other arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 29 Labor 3 2011-07-01 2011-07-01 false Effect of franchises and other arrangements. 794.117... âindependently Owned and Controlled Local Enterpriseâ § 794.117 Effect of franchises and other arrangements. Whether a franchise or other contractual arrangement affects the status of the enterprise as...

  19. 12 CFR 714.3 - Must you own the leased property in an indirect leasing arrangement?

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... leasing arrangement? 714.3 Section 714.3 Banks and Banking NATIONAL CREDIT UNION ADMINISTRATION REGULATIONS AFFECTING CREDIT UNIONS LEASING § 714.3 Must you own the leased property in an indirect leasing arrangement? You do not have to own the leased property in an indirect leasing arrangement if: (a) You...

  20. Evidence for regulatory genes on mouse chromosome 7 that affect the quantitative expression of proteins in the fetal and newborn liver.

    PubMed Central

    Giometti, C S; Gemmell, M A; Taylor, J; Tollaksen, S L; Angeletti, R; Gluecksohn-Waelsch, S

    1992-01-01

    A series of deletions around the albino locus on mouse chromosome 7 is believed to include one or more regulatory genes that control the activities of a cluster of liver enzymes. To further characterize the functions of this region of the mouse genome, we have used quantitative two-dimensional electrophoresis to analyze the effects of two of these deletions, c3H and c14CoS, on the expression of liver proteins. More than 400 distinct protein gene products were quantitated in livers from fetal and newborn wild-type homozygous (cch/cch), heterozygous (cch/c3H or cch/c14CoS), and deletion homozygous (c3H/c3H or c14CoS/c14CoS) mice. Livers of fetal and newborn c3H heterozygotes and homozygous wild-type littermates produced qualitatively identical protein patterns after two-dimensional electrophoresis. In livers of c3H homozygous fetuses, however, abnormal amounts (either increased or decreased relative to homozygous wild-type and heterozygous littermates) of 29 proteins were found. Twenty-eight of these 29 protein anomalies were also found in livers of newborn c3H homozygotes. Livers of fetal and newborn mice homozygous for the c14CoS deletion, which overlaps the c3H deletion and produces a similar phenotype, expressed normal amounts of these proteins. One of the 29 proteins (MSN807) has an amino-terminal sequence similar to a 23-kDa translationally controlled protein abundant in mouse erythroleukemia and sarcoma-180 cells. These results suggest that normal chromosome 7 contains genes, located within the region of the c3H but not the c14CoS deletion, that regulate the abundance of specific proteins in the liver. These proteins cannot be related to the phenotypic alterations shared by the c3H and c14CoS deletions. Images PMID:1549608

  1. Detection of quantitative trait loci affecting the milk fatty acid profile on sheep chromosome 22: role of the stearoyl-CoA desaturase gene in Spanish Churra sheep.

    PubMed

    García-Fernández, M; Gutiérrez-Gil, B; García-Gámez, E; Sánchez, J P; Arranz, J J

    2010-01-01

    Sheep milk fat contains several components that may provide human health benefits, such as monounsaturated fatty acids and conjugated linoleic acid (CLA). Most of the CLA in ruminant milk is synthesized in the mammary gland by the action of the enzyme stearoyl-CoA desaturase (SCD) on circulating vaccenic acid (trans-11 C18:2; VA). Previous studies have found significant associations between polymorphisms in the SCD gene and the fatty acid composition of ruminant products, including sheep milk. Based on this, we performed a quantitative trait loci (QTL) analysis of an ovine chromosome (22) that harbors the SCD gene for effects on milk fatty acid composition traits and classical milk production traits. We identified a suggestive QTL influencing the CLA/VA ratio with the maximum statistic at position 26 cM of the studied chromosome, whereas the SCD gene has been mapped to position 41.6 cM. The individual introduction of 4 SCD single nucleotide polymorphisms in the QTL model did not cause a reduction of the variance explained by the QTL, which suggests that the SCD gene is not directly responsible for the detected effect in the Churra population studied herein. This conclusion was supported by the lack of any significant association identified between the 4 SCD single nucleotide polymorphisms and the CLA/VA ratio. This association analysis suggested a possible effect of the SCD gene on milk fat percentage in Churra sheep. An independent confirmation of these primary results will be required before attempting its practical implementation in selection programs. Copyright 2010 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  2. An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.

    PubMed

    Kim, Bum Jun; Zaveri, Hitisha P; Shchelochkov, Oleg A; Yu, Zhiyin; Hernández-García, Andrés; Seymour, Michelle L; Oghalai, John S; Pereira, Fred A; Stockton, David W; Justice, Monica J; Lee, Brendan; Scott, Daryl A

    2013-01-01

    Individuals with terminal and interstitial deletions of chromosome 1p36 have a spectrum of defects that includes eye anomalies, postnatal growth deficiency, structural brain anomalies, seizures, cognitive impairment, delayed motor development, behavior problems, hearing loss, cardiovascular malformations, cardiomyopathy, and renal anomalies. The proximal 1p36 genes that contribute to these defects have not been clearly delineated. The arginine-glutamic acid dipeptide (RE) repeats gene (RERE) is located in this region and encodes a nuclear receptor coregulator that plays a critical role in embryonic development as a positive regulator of retinoic acid signaling. Rere-null mice die of cardiac failure between E9.5 and E11.5. This limits their usefulness in studying the role of RERE in the latter stages of development and into adulthood. To overcome this limitation, we created an allelic series of RERE-deficient mice using an Rere-null allele, om, and a novel hypomorphic Rere allele, eyes3 (c.578T>C, p.Val193Ala), which we identified in an N-ethyl-N-nitrosourea (ENU)-based screen for autosomal recessive phenotypes. Analyses of these mice revealed microphthalmia, postnatal growth deficiency, brain hypoplasia, decreased numbers of neuronal nuclear antigen (NeuN)-positive hippocampal neurons, hearing loss, cardiovascular malformations-aortic arch anomalies, double outlet right ventricle, and transposition of the great arteries, and perimembranous ventricular septal defects-spontaneous development of cardiac fibrosis and renal agenesis. These findings suggest that RERE plays a critical role in the development and function of multiple organs including the eye, brain, inner ear, heart and kidney. It follows that haploinsufficiency of RERE may contribute-alone or in conjunction with other genetic, environmental, or stochastic factors-to the development of many of the phenotypes seen in individuals with terminal and interstitial deletions that include the proximal region of

  3. The G516T CYP2B6 Germline Polymorphism Affects the Risk of Acute Myeloid Leukemia and Is Associated with Specific Chromosomal Abnormalities

    PubMed Central

    Daraki, Aggeliki; Zachaki, Sophia; Koromila, Theodora; Diamantopoulou, Paraskevi; Pantelias, Gabriel E.; Sambani, Constantina; Aleporou, Vasiliki; Kollia, Panagoula; Manola, Kalliopi N.

    2014-01-01

    The etiology of acute myeloid leukemia (AML) underlies the influence of genetic variants in candidate genes. The CYP2B6 enzyme detoxifies many genotoxic xenobiotics, protecting cells from oxidative damage. The CYP2B6 gene is subjected to a single-nucleotide polymorphism (G516T) with heterozygotes (GT) and homozygotes (TT) presenting decreased enzymatic activity. This case-control study aimed to investigate the association of CYP2B6 G516T polymorphism with the susceptibility of AML and its cytogenetic and clinical characteristics. Genotyping was performed on 619 AML patients and 430 healthy individuals using RCR-RFLP and a novel LightSNip assay. The major finding was a statistically higher frequency of the variant genotypes (GT and TT) in patients compared to the controls (GT:38.8% vs 29.8% and TT:9.3% vs 5.3% respectively) (p<0.001). More specifically, a significantly higher frequency of GT+TT genotypes in de novo AML patients (46.6%) and an immensely high frequency of TT in secondary AML (s-AML) (20.5%) were observed. The statistical analysis showed that the variant T allele was approximately 1.5-fold and 2.4-fold higher in de novo and s-AML respectively than controls. Concerning FAB subtypes, the T allele presented an almost 2-fold increased in AML-M2. Interestingly, a higher incidence of the TT genotype was observed in patients with abnormal karyotypes. In particular, positive correlations of the mutant allele were found in patients carrying specific chromosomal aberrations [-7/del(7q), -5/del(5q), +8, +21 or t(8;21)], complex or monosomal karyotypes. Finally, a strikingly higher frequency of TT genotype was also observed in patients stratified to the poor risk group. In conclusion, our results provide evidence for the involvement of the CYP2B6 polymorphism in AML susceptibility and suggest a possible role of the CYP2B6 genetic background on the development of specific chromosomal aberrations. PMID:24586425

  4. The G⁵¹⁶T CYP2B6 germline polymorphism affects the risk of acute myeloid leukemia and is associated with specific chromosomal abnormalities.

    PubMed

    Daraki, Aggeliki; Zachaki, Sophia; Koromila, Theodora; Diamantopoulou, Paraskevi; Pantelias, Gabriel E; Sambani, Constantina; Aleporou, Vasiliki; Kollia, Panagoula; Manola, Kalliopi N

    2014-01-01

    The etiology of acute myeloid leukemia (AML) underlies the influence of genetic variants in candidate genes. The CYP2B6 enzyme detoxifies many genotoxic xenobiotics, protecting cells from oxidative damage. The CYP2B6 gene is subjected to a single-nucleotide polymorphism (G⁵¹⁶T) with heterozygotes (GT) and homozygotes (TT) presenting decreased enzymatic activity. This case-control study aimed to investigate the association of CYP2B6 G⁵¹⁶T polymorphism with the susceptibility of AML and its cytogenetic and clinical characteristics. Genotyping was performed on 619 AML patients and 430 healthy individuals using RCR-RFLP and a novel LightSNip assay. The major finding was a statistically higher frequency of the variant genotypes (GT and TT) in patients compared to the controls (GT:38.8% vs 29.8% and TT:9.3% vs 5.3% respectively) (p<0.001). More specifically, a significantly higher frequency of GT+TT genotypes in de novo AML patients (46.6%) and an immensely high frequency of TT in secondary AML (s-AML) (20.5%) were observed. The statistical analysis showed that the variant T allele was approximately 1.5-fold and 2.4-fold higher in de novo and s-AML respectively than controls. Concerning FAB subtypes, the T allele presented an almost 2-fold increased in AML-M2. Interestingly, a higher incidence of the TT genotype was observed in patients with abnormal karyotypes. In particular, positive correlations of the mutant allele were found in patients carrying specific chromosomal aberrations [-7/del(7q), -5/del(5q), +8, +21 or t(8;21)], complex or monosomal karyotypes. Finally, a strikingly higher frequency of TT genotype was also observed in patients stratified to the poor risk group. In conclusion, our results provide evidence for the involvement of the CYP2B6 polymorphism in AML susceptibility and suggest a possible role of the CYP2B6 genetic background on the development of specific chromosomal aberrations.

  5. Conflict on the sex chromosomes: cause, effect, and complexity.

    PubMed

    Mank, Judith E; Hosken, David J; Wedell, Nina

    2014-10-03

    Intralocus sexual conflict and intragenomic conflict both affect sex chromosome evolution and can in extreme cases even cause the complete turnover of sex chromosomes. Additionally, established sex chromosomes often become the focus of heightened conflict. This creates a tangled relationship between sex chromosomes and conflict with respect to cause and effect. To further complicate matters, sexual and intragenomic conflict may exacerbate one another and thereby further fuel sex chromosome change. Different magnitudes and foci of conflict offer potential explanations for lineage-specific variation in sex chromosome evolution and answer long-standing questions as to why some sex chromosomes are remarkably stable, whereas others show rapid rates of evolutionary change.

  6. Chromosome structure and function

    SciTech Connect

    Risley, M.S.

    1986-01-01

    This book presents topics in chromosome structure and function. Topics covered include: the structure of interphase chromatin; chromatin structure, gene expression and differentiation; organization of mitotic chromosomes; organization of meiotic chromosomes and synaptonimal complexes; the lampbrush chromsome of animal oocytes; dosage compensation in mammals: x chromosome inactivation; and polytene chromosomes.

  7. Are some chromosomes particularly good at sex? Insights from amniotes.

    PubMed

    O'Meally, Denis; Ezaz, Tariq; Georges, Arthur; Sarre, Stephen D; Graves, Jennifer A Marshall

    2012-01-01

    Several recent studies have produced comparative maps of genes on amniote sex chromosomes, revealing homology of gene content and arrangement across lineages as divergent as mammals and lizards. For example, the chicken Z chromosome, which shares homology with the sex chromosomes of all birds, monotremes, and a gecko, is a striking example of stability of genome organization and retention, or independent acquisition, of function in sex determination. In other lineages, such as snakes and therian mammals, well conserved but independently evolved sex chromosome systems have arisen. Among lizards, novel sex chromosomes appear frequently, even in congeneric species. Here, we review recent gene mapping data, examine the evolutionary relationships of amniote sex chromosomes and argue that gene content can predispose some chromosomes to a specialized role in sex determination.

  8. Reduced vibration motor winding arrangement

    DOEpatents

    Slavik, C.J.; Rhudy, R.G.; Bushman, R.E.

    1997-11-11

    An individual phase winding arrangement having a sixty electrical degree phase belt width for use with a three phase motor armature includes a delta connected phase winding portion and a wye connected phase winding portion. Both the delta and wye connected phase winding portions have a thirty electrical degree phase belt width. The delta and wye connected phase winding portions are each formed from a preselected number of individual coils each formed, in turn, from an unequal number of electrical conductor turns in the approximate ratio of {radical}3. The individual coils of the delta and wye connected phase winding portions may either be connected in series or parallel. This arrangement provides an armature winding for a three phase motor which retains the benefits of the widely known and utilized thirty degree phase belt concept, including improved mmf waveform and fundamental distribution factor, with consequent reduced vibrations and improved efficiency. 4 figs.

  9. Reduced vibration motor winding arrangement

    DOEpatents

    Slavik, Charles J.; Rhudy, Ralph G.; Bushman, Ralph E.

    1997-01-01

    An individual phase winding arrangement having a sixty electrical degree phase belt width for use with a three phase motor armature includes a delta connected phase winding portion and a wye connected phase winding portion. Both the delta and wye connected phase winding portions have a thirty electrical degree phase belt width. The delta and wye connected phase winding portions are each formed from a preselected number of individual coils each formed, in turn, from an unequal number of electrical conductor turns in the approximate ratio of .sqroot.3. The individual coils of the delta and wye connected phase winding portions may either be connected in series or parallel. This arrangement provides an armature winding for a three phase motor which retains the benefits of the widely known and utilized thirty degree phase belt concept, including improved mmf waveform and fundamental distribution factor, with consequent reduced vibrations and improved efficiency.

  10. Pharmacogenetic interaction between dexamethasone and Cd36-deficient segment of spontaneously hypertensive rat chromosome 4 affects triacylglycerol and cholesterol distribution into lipoprotein fractions.

    PubMed

    Krupková, Michaela; Sedová, Lucie; Liska, Frantisek; Krenová, Drahomíra; Kren, Vladimír; Seda, Ondrej

    2010-04-16

    Dexamethasone (DEX) is known to induce diabetes and dyslipidemia. We have compared fasting triacylglycerol and cholesterol concentrations across 20 lipoprotein fractions and glucose tolerance in control (standard diet) and DEX-treated 7-month-old males of two rat strains, Brown Norway (BN) and congenic BN.SHR-(Il6-Cd36)/Cub (BN.SHR4). These two inbred strains differ in a defined segment of chromosome 4, originally transferred from the spontaneously hypertensive rat (SHR) including the mutant Cd36 gene, a known target of DEX. Compared to BN, the standard-diet-fed BN.SHR4 showed higher cholesterol and triacylglycerol concentrations across many lipoprotein fractions, particularly in small VLDL and LDL particles. Total cholesterol was decreased by DEX by more than 21% in BN.SHR4 contrasting with the tendency to increase in BN (strain*DEX interaction p = 0.0017). Similar pattern was observed for triacylglycerol concentrations in LDL. The LDL particle size was significantly reduced by DEX in both strains. Also, while control BN and BN.SHR4 displayed comparable glycaemic profiles during oral glucose tolerance test, we observed a markedly blunted DEX induction of glucose intolerance in BN.SHR4 compared to BN. In summary, we report a pharmacogenetic interaction between limited genomic segment with mutated Cd36 gene and dexamethasone-induced glucose intolerance and triacylglycerol and cholesterol redistribution into lipoprotein fractions.

  11. Specific deletion of Cdc42 does not affect meiotic spindle organization/migration and homologous chromosome segregation but disrupts polarity establishment and cytokinesis in mouse oocytes.

    PubMed

    Wang, Zhen-Bo; Jiang, Zong-Zhe; Zhang, Qing-Hua; Hu, Meng-Wen; Huang, Lin; Ou, Xiang-Hong; Guo, Lei; Ouyang, Ying-Chun; Hou, Yi; Brakebusch, Cord; Schatten, Heide; Sun, Qing-Yuan

    2013-12-01

    Mammalian oocyte maturation is distinguished by highly asymmetric meiotic divisions during which a haploid female gamete is produced and almost all the cytoplasm is maintained in the egg for embryo development. Actin-dependent meiosis I spindle positioning to the cortex induces the formation of a polarized actin cap and oocyte polarity, and it determines asymmetric divisions resulting in two polar bodies. Here we investigate the functions of Cdc42 in oocyte meiotic maturation by oocyte-specific deletion of Cdc42 through Cre-loxP conditional knockout technology. We find that Cdc42 deletion causes female infertility in mice. Cdc42 deletion has little effect on meiotic spindle organization and migration to the cortex but inhibits polar body emission, although homologous chromosome segregation occurs. The failure of cytokinesis is due to the loss of polarized Arp2/3 accumulation and actin cap formation; thus the defective contract ring. In addition, we correlate active Cdc42 dynamics with its function during polar body emission and find a relationship between Cdc42 and polarity, as well as polar body emission, in mouse oocytes.

  12. Chromosomal differences in populations of Anopheles nuneztovari

    PubMed Central

    Kitzmiller, J. B.; Kreutzer, R. D.; Tallaferro, E.

    1973-01-01

    Anopheles nuneztovari from 3 localities in Brazil, 2 in Venezuela, and 1 in Colombia were subjected to chromosome analysis. The Venezuelan and Colombian populations, responsible for malaria transmission in certain areas of these countries, differ in an X-chromosome arrangement from the Brazilian specimens, the difference apparently being due to the fixation of an inversion in the homozygous state in one population. It was possible to identify 216 specimens from Venezuela and Colombia and 190 from Brazil by the X-chromosome. A. nuneztovari and its close relatives may be easily distinguished in this way. Diagnostic descriptions of the chromosomes and a standard map, based on the Brazilian population, are provided. ImagesFig. 2Fig. 4Fig. 5Fig. 7Fig. 8 PMID:4543549

  13. Visualization of chromosomes in the binucleate intestinal parasite Giardia lamblia.

    PubMed

    Shen, Hai E; Cao, Lei; Li, Ji; Tian, Xi Feng; Yang, Zhi Hong; Wang, Yue; Tian, Yu Na; Lu, Si Qi

    2011-11-01

    Mitosis of Giardia lamblia is a complex and rapid event that is poorly understood at the cellular and molecular levels. Therefore, we conducted this study to determine (1) whether the two nuclei have similar or different chromosomes, (2) the number of chromosomes of G. lamblia, and (3) the morphology and karyotype of the chromosomes. Trophozoites of the C2 and WB strains of G. lamblia were grown in modified TYI-S-33 medium at 37°C. The trophozoites were collected, and sample slides were prepared for conventional light and scanning electron microscopy. Light microscopy revealed five pairs of chromosomes. The chromosomes were approximately 0.64-0.94 μm long with a short rod-like shape and were usually arranged in pairs. Scanning electron microscopy yielded similar findings, and 10 chromosomes could be seen in each nucleus. Thus, the chromosome number of G. lamblia is 2n = 10. Chromosomes in pair 1 are submetacentric chromosomes, while pairs 2-5 are telocentric chromosomes. The present study shows that G. lamblia trophozoites have typical condensed chromosomes during mitosis and contains five pairs of chromosomes. The karyogram shows good fit to the formula 2n = 10 = 2sm + 8t revealed by scanning electron microscopy.

  14. Relationships between chromosome structure and chromosomal aberrations

    NASA Astrophysics Data System (ADS)

    Eidelman, Yuri; Andreev, Sergey

    An interphase nucleus of human lymphocyte was simulated by the novel Monte Carlo tech-nique. The main features of interphase chromosome structure and packaging were taken into account: different levels of chromatin organisation; nonrandom localisation of chromosomes within a nucleus; chromosome loci dynamics. All chromosomes in a nucleus were modelled as polymer globules. A dynamic pattern of intra/interchromosomal contacts was simulated. The detailed information about chromosomal contacts, such as distribution of intrachromoso-mal contacts over the length of each chromosome and dependence of contact probability on genomic separation between chromosome loci, were calculated and compared to the new exper-imental data obtained by the Hi-C technique. Types and frequencies of simple and complex radiation-induced chromosomal exchange aberrations (CA) induced by X-rays were predicted with taking formation and decay of chromosomal contacts into account. Distance dependence of exchange formation probability was calculated directly. mFISH data for human lymphocytes were analysed. The calculated frequencies of simple CA agreed with the experimental data. Complex CA were underestimated despite the dense packaging of chromosome territories within a nucleus. Possible influence of chromosome-nucleus structural organisation on the frequency and spectrum of radiation-induced chromosome aberrations is discussed.

  15. Single-cell Hi-C reveals cell-to-cell variability in chromosome structure.

    PubMed

    Nagano, Takashi; Lubling, Yaniv; Stevens, Tim J; Schoenfelder, Stefan; Yaffe, Eitan; Dean, Wendy; Laue, Ernest D; Tanay, Amos; Fraser, Peter

    2013-10-03

    Large-scale chromosome structure and spatial nuclear arrangement have been linked to control of gene expression and DNA replication and repair. Genomic techniques based on chromosome conformation capture (3C) assess contacts for millions of loci simultaneously, but do so by averaging chromosome conformations from millions of nuclei. Here we introduce single-cell Hi-C, combined with genome-wide statistical analysis and structural modelling of single-copy X chromosomes, to show that individual chromosomes maintain domain organization at the megabase scale, but show variable cell-to-cell chromosome structures at larger scales. Despite this structural stochasticity, localization of active gene domains to boundaries of chromosome territories is a hallmark of chromosomal conformation. Single-cell Hi-C data bridge current gaps between genomics and microscopy studies of chromosomes, demonstrating how modular organization underlies dynamic chromosome structure, and how this structure is probabilistically linked with genome activity patterns.

  16. Chromosome repatterning in three representative parrots (Psittaciformes) inferred from comparative chromosome painting.

    PubMed

    Nanda, I; Karl, E; Griffin, D K; Schartl, M; Schmid, M

    2007-01-01

    Parrots (order: Psittaciformes) are the most common captive birds and have attracted human fascination since ancient times because of their remarkable intelligence and ability to imitate human speech. However, their genome organization, evolution and genomic relation with other birds are poorly understood. Chromosome painting with DNA probes derived from the flow-sorted macrochromosomes (1-10) of chicken (Gallus gallus, GGA) has been used to identify and distinguish the homoeologous chromosomal segments in three species of parrots, i.e., Agapornis roseicollis (peach-faced lovebird); Nymphicus hollandicus (cockatiel) and Melopsittacus undulatus (budgerigar). The ten GGA macrochromosome paints unequivocally recognize 14 to 16 hybridizing regions delineating the conserved chromosomal segments for the respective chicken macrochromosomes in these representative parrot species. The cross-species chromosome painting results show that, unlike in many other avian karyotypes with high homology to chicken chromosomes, dramatic rearrangements of the macrochromosomes have occurred in parrot lineages. Among the larger GGA macrochromosomes (1-5), chromosomes 1 and 4 are conserved on two chromosomes in all three species. However, the hybridization pattern for GGA 4 in A. roseicollis and M. undulatus is in sharp contrast to the most common pattern known from hybridization of chicken macrochromosome 4 in other avian karyotypes. With the exception of A. roseicollis, chicken chromosomes 2, 3 and 5 hybridized either completely or partially to a single chromosome. In contrast, the smaller GGA macrochromosomes 6, 7 and 8 displayed a complex hybridization pattern: two or three of these macrochromosomes were found to be contiguously arranged on a single chromosome in all three parrot species. Overall, the study shows that translocations and fusions in conjunction with intragenomic rearrangements have played a major role in the karyotype evolution of parrots. Our inter-species chromosome

  17. Ultra high vacuum seal arrangement

    DOEpatents

    Flaherty, Robert

    1981-01-01

    Arrangement for demountably sealing two concentric metallic tubes in an ultra high vacuum system which facilitates remote actuation. A tubular seal includes integral spaced lips which circumferentially engage the metallic tubes. The lips plastically deform the metallic tubes by mechanical forces resulting from a martensite to austenite transformation of the tubular seal upon application of a predetermined temperature. The sealing force is released upon application of another temperature which causes a transformation from the stronger austenite to the weaker martensite. Use of a dual acting sealing ring and driving ring circumferentially contacting the sealing ring is particularly applicable to sealing larger diameter concentric metallic members.

  18. Visitation arrangements for impaired parents.

    PubMed

    Montgomery, Stephen A; Street, David F

    2011-07-01

    Forensic mental health professionals are frequently asked to evaluate the parenting skills of divorcing parents because the court seeks help in determining the custody, visitation, and parenting time arrangements for the children. When one of the parents is impaired, the court wants to know the way to help the children have a good relationship with that parent and keep the children safe. There is little empirical research to answer such questions. In this article, the authors describe their methodology for providing useful clinical information to the court to help guide their decisions regarding visitation with impaired parents.

  19. Rec-8 dimorphism affects longevity, stress resistance and X-chromosome nondisjunction in C. elegans, and replicative lifespan in S. cerevisiae

    PubMed Central

    Ayyadevara, Srinivas; Tazearslan, Çagdas; Alla, Ramani; Jiang, James C.; Jazwinski, S. Michal; Shmookler Reis, Robert J.

    2014-01-01

    A quantitative trait locus (QTL) in the nematode C. elegans, “lsq4,” was recently implicated by mapping longevity genes. QTLs for lifespan and three stress-resistance traits coincided within a span of <300 kbp, later narrowed to <200 kbp. A single gene in this interval is now shown to modulate all lsq4-associated traits. Full-genome analysis of transcript levels indicates that lsq4 contains a dimorphic gene governing the expression of many sperm-specific genes, suggesting an effect on spermatogenesis. Quantitative analysis of allele-specific transcripts encoded within the lsq4 interval revealed significant, 2- to 15-fold expression differences for 10 of 33 genes. Fourteen “dual-candidate” genes, implicated by both position and expression, were tested for RNA-interference effects on QTL-linked traits. In a strain carrying the shorter-lived allele, knockdown of rec-8 (encoding a meiotic cohesin) reduced its transcripts 4-fold, to a level similar to the longer-lived strain, while extending lifespan 25–26%, whether begun before fertilization or at maturity. The short-lived lsq4 allele also conferred sensitivity to oxidative and thermal stresses, and lower male frequency (reflecting X-chromosome non-disjunction), traits reversed uniquely by rec-8 knockdown. A strain bearing the longer-lived lsq4 allele, differing from the short-lived strain at <0.3% of its genome, derived no lifespan or stress-survival benefit from rec-8 knockdown. We consider two possible explanations: high rec-8 expression may include increased “leaky” expression in mitotic cells, leading to deleterious destabilization of somatic genomes; or REC-8 may act entirely in germ-line meiotic cells to reduce aberrations such as non-disjunction, thereby blunting a stress-resistance response mediated by innate immunity. Replicative lifespan was extended 20% in haploid S. cerevisiae (BY4741) by deletion of REC8, orthologous to nematode rec-8, implying that REC8 disruption of mitotic-cell survival

  20. Principles of chromosomal organization: lessons from yeast

    PubMed Central

    Zimmer, Christophe

    2011-01-01

    The spatial organization of genes and chromosomes plays an important role in the regulation of several DNA processes. However, the principles and forces underlying this nonrandom organization are mostly unknown. Despite its small dimension, and thanks to new imaging and biochemical techniques, studies of the budding yeast nucleus have led to significant insights into chromosome arrangement and dynamics. The dynamic organization of the yeast genome during interphase argues for both the physical properties of the chromatin fiber and specific molecular interactions as drivers of nuclear order. PMID:21383075

  1. The importance of having two X chromosomes

    PubMed Central

    Arnold, Arthur P.; Reue, Karen; Eghbali, Mansoureh; Vilain, Eric; Chen, Xuqi; Ghahramani, Negar; Itoh, Yuichiro; Li, Jingyuan; Link, Jenny C.; Ngun, Tuck; Williams-Burris, Shayna M.

    2016-01-01

    Historically, it was thought that the number of X chromosomes plays little role in causing sex differences in traits. Recently, selected mouse models have been used increasingly to compare mice with the same type of gonad but with one versus two copies of the X chromosome. Study of these models demonstrates that mice with one X chromosome can be strikingly different from those with two X chromosomes, when the differences are not attributable to confounding group differences in gonadal hormones. The number of X chromosomes affects adiposity and metabolic disease, cardiovascular ischaemia/reperfusion injury and behaviour. The effects of X chromosome number are likely the result of inherent differences in expression of X genes that escape inactivation, and are therefore expressed from both X chromosomes in XX mice, resulting in a higher level of expression when two X chromosomes are present. The effects of X chromosome number contribute to sex differences in disease phenotypes, and may explain some features of X chromosome aneuploidies such as in Turner and Klinefelter syndromes. PMID:26833834

  2. The importance of having two X chromosomes.

    PubMed

    Arnold, Arthur P; Reue, Karen; Eghbali, Mansoureh; Vilain, Eric; Chen, Xuqi; Ghahramani, Negar; Itoh, Yuichiro; Li, Jingyuan; Link, Jenny C; Ngun, Tuck; Williams-Burris, Shayna M

    2016-02-19

    Historically, it was thought that the number of X chromosomes plays little role in causing sex differences in traits. Recently, selected mouse models have been used increasingly to compare mice with the same type of gonad but with one versus two copies of the X chromosome. Study of these models demonstrates that mice with one X chromosome can be strikingly different from those with two X chromosomes, when the differences are not attributable to confounding group differences in gonadal hormones. The number of X chromosomes affects adiposity and metabolic disease, cardiovascular ischaemia/reperfusion injury and behaviour. The effects of X chromosome number are likely the result of inherent differences in expression of X genes that escape inactivation, and are therefore expressed from both X chromosomes in XX mice, resulting in a higher level of expression when two X chromosomes are present. The effects of X chromosome number contribute to sex differences in disease phenotypes, and may explain some features of X chromosome aneuploidies such as in Turner and Klinefelter syndromes.

  3. Human chromosome 8.

    PubMed Central

    Wood, S

    1988-01-01

    The role of human chromosome 8 in genetic disease together with the current status of the genetic linkage map for this chromosome is reviewed. Both hereditary genetic disease attributed to mutant alleles at gene loci on chromosome 8 and neoplastic disease owing to somatic mutation, particularly chromosomal translocations, are discussed. PMID:3070042

  4. 45 CFR 302.34 - Cooperative arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 45 Public Welfare 2 2011-10-01 2011-10-01 false Cooperative arrangements. 302.34 Section 302.34... PLAN REQUIREMENTS § 302.34 Cooperative arrangements. The State plan shall provide that the State will enter into written agreements for cooperative arrangements under § 303.107 with appropriate courts,...

  5. 45 CFR 63.4 - Cooperative arrangements.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 45 Public Welfare 1 2013-10-01 2013-10-01 false Cooperative arrangements. 63.4 Section 63.4 Public... OFFICE OF THE ASSISTANT SECRETARY FOR PLANNING AND EVALUATION General § 63.4 Cooperative arrangements. (a) Eligible parties may enter into cooperative arrangements with other eligible parties, including those...

  6. 45 CFR 302.34 - Cooperative arrangements.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 45 Public Welfare 2 2012-10-01 2012-10-01 false Cooperative arrangements. 302.34 Section 302.34... PLAN REQUIREMENTS § 302.34 Cooperative arrangements. The State plan shall provide that the State will enter into written agreements for cooperative arrangements under § 303.107 with appropriate courts,...

  7. 45 CFR 63.4 - Cooperative arrangements.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 45 Public Welfare 1 2010-10-01 2010-10-01 false Cooperative arrangements. 63.4 Section 63.4 Public... OFFICE OF THE ASSISTANT SECRETARY FOR PLANNING AND EVALUATION General § 63.4 Cooperative arrangements. (a) Eligible parties may enter into cooperative arrangements with other eligible parties, including those...

  8. 45 CFR 63.4 - Cooperative arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 45 Public Welfare 1 2014-10-01 2014-10-01 false Cooperative arrangements. 63.4 Section 63.4 Public... OFFICE OF THE ASSISTANT SECRETARY FOR PLANNING AND EVALUATION General § 63.4 Cooperative arrangements. (a) Eligible parties may enter into cooperative arrangements with other eligible parties, including those...

  9. 45 CFR 302.34 - Cooperative arrangements.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 45 Public Welfare 2 2013-10-01 2012-10-01 true Cooperative arrangements. 302.34 Section 302.34... PLAN REQUIREMENTS § 302.34 Cooperative arrangements. The State plan shall provide that the State will enter into written agreements for cooperative arrangements under § 303.107 with appropriate courts,...

  10. 45 CFR 302.34 - Cooperative arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 45 Public Welfare 2 2014-10-01 2012-10-01 true Cooperative arrangements. 302.34 Section 302.34... PLAN REQUIREMENTS § 302.34 Cooperative arrangements. The State plan shall provide that the State will enter into written agreements for cooperative arrangements under § 303.107 with appropriate courts,...

  11. 45 CFR 63.4 - Cooperative arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 45 Public Welfare 1 2011-10-01 2011-10-01 false Cooperative arrangements. 63.4 Section 63.4 Public... OFFICE OF THE ASSISTANT SECRETARY FOR PLANNING AND EVALUATION General § 63.4 Cooperative arrangements. (a) Eligible parties may enter into cooperative arrangements with other eligible parties, including those...

  12. 45 CFR 63.4 - Cooperative arrangements.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 45 Public Welfare 1 2012-10-01 2012-10-01 false Cooperative arrangements. 63.4 Section 63.4 Public... OFFICE OF THE ASSISTANT SECRETARY FOR PLANNING AND EVALUATION General § 63.4 Cooperative arrangements. (a) Eligible parties may enter into cooperative arrangements with other eligible parties, including those...

  13. 29 CFR 779.229 - Other arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ..., Franchise and Other Business Arrangements § 779.229 Other arrangements. With respect to those arrangements...” establishment will be considered a part of the same “enterprise.” For example, whether a franchise, lease, or... the enterprise which grants the franchise, right, or concession. (S. Rept. 145, 87th Cong., 1st...

  14. 42 CFR 413.241 - Pharmacy arrangements.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 2 2010-10-01 2010-10-01 false Pharmacy arrangements. 413.241 Section 413.241... Disease (ESRD) Services and Organ Procurement Costs § 413.241 Pharmacy arrangements. Effective January 1, 2011, an ESRD facility that enters into an arrangement with a pharmacy to furnish renal...

  15. Mitotic chromosome structure

    SciTech Connect

    Heermann, Dieter W.

    2012-07-15

    Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

  16. Changes in chromosomal polymorphism and global warming: The case of Drosophila subobscura from Apatin (Serbia).

    PubMed

    Zivanovic, Goran; Mestres, Francesc

    2011-07-01

    In this study, chromosomal inversion polymorphism data for a natural population of Drosophila subobscura from a swampy region near the town of Apatin (Serbia) were compared with data for the same population collected approximately 15 years earlier. The pattern of chromosomal inversion polymorphism changed over time. There were significant increases in the frequency of characteristic southern latitude ("warm" adapted) chromosomal arrangements and significant decreases in the frequency of characteristic northern latitude ("cold" adapted) chromosomal arrangements in the O and U chromosomes. The chromosomal arrangements O(3+4) and O(3+4) (+) (22) (derived from the O(3+4) arrangement) showed significant increases in 2008 and 2009 with regard to the 1994 sample. There was also a significant increase (∼50%) in the U(1) (+) (2) arrangement, while U(1+8) (+) (2) (a typical southern arrangement) was detected for the first time. Since the Apatin swampy population of D. subobscura has existed for a long time in a stable habitat with high humidity that has not been changed by man our results indicate that natural selection has produced chromosomal changes in response to the increase in temperature that has occurred in the Balkan Peninsula of central southeastern European.

  17. Aft outer rim seal arrangement

    SciTech Connect

    Lee, Ching-Pang; Tham, Kok-Mun; Schroeder, Eric; Meeroff, Jamie; Miller, Jr., Samuel R; Marra, John J; Campbell, Christian X

    2015-04-28

    An outer rim seal arrangement (10), including: an annular rim (70) centered about a longitudinal axis (30) of a rotor disc (31), extending fore and having a fore-end (72), an outward-facing surface (74), and an inward-facing surface (76); a lower angel wing (62) extending aft from a base of a turbine blade (22) and having an aft end (64) disposed radially inward of the rim inward-facing surface to define a lower angel wing seal gap (80); an upper angel wing (66) extending aft from the turbine blade base and having an aft end (68) disposed radially outward of the rim outward-facing surface to define a upper angel wing seal gap (80, 82); and guide vanes (100) disposed on the rim inward-facing surface in the lower angel wing seal gap. Pumping fins (102) may be disposed on the upper angel wing seal aft end in the upper angel wing seal gap.

  18. Flexible Work Arrangements: Accessibility in a University Environment

    ERIC Educational Resources Information Center

    Sharafizad, Fleur; Paull, Megan; Omari, Maryam

    2011-01-01

    Attraction and retention of highly qualified employees has become an area of concern for Australian universities. It has been suggested that flexible work arrangements can be utilised to achieve this goal once the factors affecting their uptake have been identified. This mixed-method study of 495 academic and general staff at an Australian…

  19. Nucleolar organizing chromosomes ofRicinus.

    PubMed

    Paris, H S; Shifriss, O; Jelenkovic, G

    1980-03-01

    Pachytene chromosome morphology was compared in nine races ofRicinus communis L. (2n = 20), using pollen mother cells (PMCs) and light microscopy. Of the ten bivalents, only the two possessing nucleolar organizing regions (NORs), chromosomes 2 and 7, exhibit structural variations among the races. The NORs are located in the short arms of these two chromosomes. Most of the observed structural variations affect these short arms, which are similar morphologically and consist largely of heterochromatic segments. The PMCs contain a single nucleolus and this is associated with the NOR of each of the two chromosomes at a particular frequency in each race. In eight races, a nucleolar constriction (NC) is present in either chromosome 2 or chromosome 7. In these races, the nucleolus is associated with the chromosome possessing an NC at a frequency of 100% and with the chromosome lacking an NC at a frequency ranging between 5.6 and 100%, depending upon the race. No microscopically visible NC is present in the ninth race. In this race, the nucleolus is associated with both chromosomes 2 and 7 at a frequency of 100%. The association of the nucleolus with a chromosome possessing an NC is at the NC and with a chromosome lacking an NC is at the terminal heterochromatic segment of the short arm. Several interpretations are offered to account for the variations in frequency of association between the nucleolus and each of the nucleolar organizing chromosomes. It is suggested that the two non-linked NORs have evolved through some intragenomic changes rather than polyploidy, that this species is highly intolerant to structural variations other than those occurring in or near the NORs, and that structural variations in the nucleolar organizing chromosomes are not associated with racial variations in plant phenotype.

  20. A Widespread Chromosomal Inversion Polymorphism Contributes to a Major Life-History Transition, Local Adaptation, and Reproductive Isolation

    PubMed Central

    Lowry, David B.; Willis, John H.

    2010-01-01

    The role of chromosomal inversions in adaptation and speciation is controversial. Historically, inversions were thought to contribute to these processes either by directly causing hybrid sterility or by facilitating the maintenance of co-adapted gene complexes. Because inversions suppress recombination when heterozygous, a recently proposed local adaptation mechanism predicts that they will spread if they capture alleles at multiple loci involved in divergent adaptation to contrasting environments. Many empirical studies have found inversion polymorphisms linked to putatively adaptive phenotypes or distributed along environmental clines. However, direct involvement of an inversion in local adaptation and consequent ecological reproductive isolation has not to our knowledge been demonstrated in nature. In this study, we discovered that a chromosomal inversion polymorphism is geographically widespread, and we test the extent to which it contributes to adaptation and reproductive isolation under natural field conditions. Replicated crosses between the prezygotically reproductively isolated annual and perennial ecotypes of the yellow monkeyflower, Mimulus guttatus, revealed that alternative chromosomal inversion arrangements are associated with life-history divergence over thousands of kilometers across North America. The inversion polymorphism affected adaptive flowering time divergence and other morphological traits in all replicated crosses between four pairs of annual and perennial populations. To determine if the inversion contributes to adaptation and reproductive isolation in natural populations, we conducted a novel reciprocal transplant experiment involving outbred lines, where alternative arrangements of the inversion were reciprocally introgressed into the genetic backgrounds of each ecotype. Our results demonstrate for the first time in nature the contribution of an inversion to adaptation, an annual/perennial life-history shift, and multiple reproductive

  1. A widespread chromosomal inversion polymorphism contributes to a major life-history transition, local adaptation, and reproductive isolation.

    PubMed

    Lowry, David B; Willis, John H

    2010-09-28

    The role of chromosomal inversions in adaptation and speciation is controversial. Historically, inversions were thought to contribute to these processes either by directly causing hybrid sterility or by facilitating the maintenance of co-adapted gene complexes. Because inversions suppress recombination when heterozygous, a recently proposed local adaptation mechanism predicts that they will spread if they capture alleles at multiple loci involved in divergent adaptation to contrasting environments. Many empirical studies have found inversion polymorphisms linked to putatively adaptive phenotypes or distributed along environmental clines. However, direct involvement of an inversion in local adaptation and consequent ecological reproductive isolation has not to our knowledge been demonstrated in nature. In this study, we discovered that a chromosomal inversion polymorphism is geographically widespread, and we test the extent to which it contributes to adaptation and reproductive isolation under natural field conditions. Replicated crosses between the prezygotically reproductively isolated annual and perennial ecotypes of the yellow monkeyflower, Mimulus guttatus, revealed that alternative chromosomal inversion arrangements are associated with life-history divergence over thousands of kilometers across North America. The inversion polymorphism affected adaptive flowering time divergence and other morphological traits in all replicated crosses between four pairs of annual and perennial populations. To determine if the inversion contributes to adaptation and reproductive isolation in natural populations, we conducted a novel reciprocal transplant experiment involving outbred lines, where alternative arrangements of the inversion were reciprocally introgressed into the genetic backgrounds of each ecotype. Our results demonstrate for the first time in nature the contribution of an inversion to adaptation, an annual/perennial life-history shift, and multiple reproductive

  2. B Chromosomes - A Matter of Chromosome Drive.

    PubMed

    Houben, Andreas

    2017-01-01

    B chromosomes are supernumerary chromosomes which are often preferentially inherited, deviating from usual Mendelian segregation. The balance between the so-called chromosome drive and the negative effects that the presence of Bs applies on the fitness of their host determines the frequency of Bs in a particular population. Drive is the key for understanding most B chromosomes. Drive occurs in many ways at pre-meiotic, meiotic or post-meiotic divisions, but the molecular mechanism remains unclear. The cellular mechanism of drive is reviewed based on the findings obtained for the B chromosomes of rye, maize and other species. How novel analytical tools will expand our ability to uncover the biology of B chromosome drive is discussed.

  3. Single cell Hi-C reveals cell-to-cell variability in chromosome structure

    PubMed Central

    Schoenfelder, Stefan; Yaffe, Eitan; Dean, Wendy; Laue, Ernest D.; Tanay, Amos; Fraser, Peter

    2013-01-01

    Large-scale chromosome structure and spatial nuclear arrangement have been linked to control of gene expression and DNA replication and repair. Genomic techniques based on chromosome conformation capture assess contacts for millions of loci simultaneously, but do so by averaging chromosome conformations from millions of nuclei. Here we introduce single cell Hi-C, combined with genome-wide statistical analysis and structural modeling of single copy X chromosomes, to show that individual chromosomes maintain domain organisation at the megabase scale, but show variable cell-to-cell chromosome territory structures at larger scales. Despite this structural stochasticity, localisation of active gene domains to boundaries of territories is a hallmark of chromosomal conformation. Single cell Hi-C data bridge current gaps between genomics and microscopy studies of chromosomes, demonstrating how modular organisation underlies dynamic chromosome structure, and how this structure is probabilistically linked with genome activity patterns. PMID:24067610

  4. Comparative chromosome painting in Carnivora and Pholidota.

    PubMed

    Perelman, P L; Beklemisheva, V R; Yudkin, D V; Petrina, T N; Rozhnov, V V; Nie, W; Graphodatsky, A S

    2012-01-01

    The order of Carnivora has been very well characterized with over 50 species analyzed by chromosome painting and with painting probe sets made for 9 Carnivora species. Representatives of almost all families have been studied with few exceptions (Otariidae, Odobenidae, Nandiniidae, Prionodontidae). The patterns of chromosome evolution in Carnivora are discussed here. Overall, many Carnivora species retained karyotypes that only slightly differ from the ancestral carnivore karyotype. However, there are at least 3 families in which the ancestral carnivore karyotype has been severely rearranged - Canidae, Ursidae and Mephitidae. Here we report chromosome painting of yet another Carnivora species with a highly rearranged karyotype, Genetta pardina. Recurrent rearrangements make it difficult to define the ancestral chromosomal arrangement in several instances. Only 2 species of pangolins (Pholidota), a sister order of Carnivora, have been studied by chromosome painting. Future use of whole-genome sequencing data is discussed in the context of solving the questions that are beyond resolution of conventional banding techniques and chromosome painting.

  5. Classifier-assisted metric for chromosome pairing.

    PubMed

    Ventura, Rodrigo; Khmelinskii, Artem; Sanches, J

    2010-01-01

    Cytogenetics plays a central role in the detection of chromosomal abnormalities and in the diagnosis of genetic diseases. A karyogram is an image representation of human chromosomes arranged in order of decreasing size and paired in 23 classes. In this paper we propose an approach to automatically pair the chromosomes into a karyogram, using the information obtained in a rough SVM-based classification step, to help the pairing process mainly based on similarity metrics between the chromosomes. Using a set of geometric and band pattern features extracted from the chromosome images, the algorithm is formulated on a Bayesian framework, combining the similarity metric with the results from the classifier. The solution is obtained solving a mixed integer program. Two datasets with contrasting quality levels and 836 chromosomes each were used to test and validate the algorithm. Relevant improvements with respect to the algorithm described by the authors in [1] were obtained with average paring rates above 92%, close to the rates obtained by human operators.

  6. B-chromosome evolution.

    PubMed Central

    Camacho, J P; Sharbel, T F; Beukeboom, L W

    2000-01-01

    B chromosomes are extra chromosomes to the standard complement that occur in many organisms. They can originate in a number of ways including derivation from autosomes and sex chromosomes in intra- and interspecies crosses. Their subsequent molecular evolution resembles that of univalent sex chromosomes, which involves gene silencing, heterochromatinization and the accumulation of repetitive DNA and transposons. B-chromosome frequencies in populations result from a balance between their transmission rates and their effects on host fitness. Their long-term evolution is considered to be the outcome of selection on the host genome to eliminate B chromosomes or suppress their effects and on the B chromosome's ability to escape through the generation of new variants. Because B chromosomes interact with the standard chromosomes, they can play an important role in genome evolution and may be useful for studying molecular evolutionary processes. PMID:10724453

  7. The Precarious Prokaryotic Chromosome

    PubMed Central

    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 two distinct ways to organize chromosomes are driven by the differences between the global-consecutive chromosome cycle of eukaryotes and the local-concurrent chromosome cycle of prokaryotes. Specifically, progressive chromosome segregation in prokaryotes demands a single duplicon per chromosome, while other “precarious” features of the prokaryotic chromosomes can be viewed as compensations for this severe restriction. PMID:24633873

  8. The aesthetics of behavioral arrangements

    PubMed Central

    Hineline, Philip N.

    2005-01-01

    With their origins in scientific validation, behavior-analytic applications have understandably been developed with an engineering rather than a crafting orientation. Nevertheless, traditions of craftsmanship can be instructive for devising aesthetically pleasing arrangements—arrangements that people will try, and having tried, will choose to continue living with. Pye (1968) provides suggestions for this, particularly through his distinctions between workmanship of risk versus workmanship of certainty, and the mating of functional precision with effective or otherwise pleasing variability. Close examination of woodworking tools as well as antique machines offers instructive analogues that show, for instance, that misplaced precision can be dysfunctional when precision is not essential to a design. Variability should be allowed or even encouraged. Thus, in the design of behavioral contingencies as well as of practical or purely aesthetic objects, “precise versus variable” is not necessarily a distinction between good and bad. More generally, behavior analysts would do well to look beyond their technical experience for ways to improve the aesthetics of contingency design while continuing to understand the resulting innovations in relation to behavior-analytic principles. ImagesFigure 1Figure 2Figure 3Figure 4Figure 5Figure 6Figure 7Figure 8Figure 9 PMID:22478437

  9. Linearly arranged polytypic CZTSSe nanocrystals

    PubMed Central

    Fan, Feng-Jia; Wu, Liang; Gong, Ming; Chen, Shi You; Liu, Guang Yao; Yao, Hong-Bin; Liang, Hai-Wei; Wang, Yi-Xiu; Yu, Shu-Hong

    2012-01-01

    Even colloidal polytypic nanostructures show promising future in band-gap tuning and alignment, researches on them have been much less reported than the standard nano-heterostructures because of the difficulties involved in synthesis. Up to now, controlled synthesis of colloidal polytypic nanocrsytals has been only realized in II-VI tetrapod and octopod nanocrystals with branched configurations. Herein, we report a colloidal approach for synthesizing non-branched but linearly arranged polytypic I2-II-IV-VI4 nanocrystals, with a focus on polytypic non-stoichiometric Cu2ZnSnSxSe4−x nanocrystals. Each synthesized polytypic non-stoichiometric Cu2ZnSnSxSe4−x nanocrystal is consisted of two zinc blende-derived ends and one wurtzite-derived center part. The formation mechanism has been studied and the phase composition can be tuned through adjusting the reaction temperature, which brings a new band-gap tuning approach to Cu2ZnSnSxSe4-x nanocrystals. PMID:23233871

  10. Bird-like sex chromosomes of platypus imply recent origin of mammal sex chromosomes.

    PubMed

    Veyrunes, Frédéric; Waters, Paul D; Miethke, Pat; Rens, Willem; McMillan, Daniel; Alsop, Amber E; Grützner, Frank; Deakin, Janine E; Whittington, Camilla M; Schatzkamer, Kyriena; Kremitzki, Colin L; Graves, Tina; Ferguson-Smith, Malcolm A; Warren, Wes; Marshall Graves, Jennifer A

    2008-06-01

    In therian mammals (placentals and marsupials), sex is determined by an XX female: XY male system, in which a gene (SRY) on the Y affects male determination. There is no equivalent in other amniotes, although some taxa (notably birds and snakes) have differentiated sex chromosomes. Birds have a ZW female: ZZ male system with no homology with mammal sex chromosomes, in which dosage of a Z-borne gene (possibly DMRT1) affects male determination. As the most basal mammal group, the egg-laying monotremes are ideal for determining how the therian XY system evolved. The platypus has an extraordinary sex chromosome complex, in which five X and five Y chromosomes pair in a translocation chain of alternating X and Y chromosomes. We used physical mapping to identify genes on the pairing regions between adjacent X and Y chromosomes. Most significantly, comparative mapping shows that, contrary to earlier reports, there is no homology between the platypus and therian X chromosomes. Orthologs of genes in the conserved region of the human X (including SOX3, the gene from which SRY evolved) all map to platypus chromosome 6, which therefore represents the ancestral autosome from which the therian X and Y pair derived. Rather, the platypus X chromosomes have substantial homology with the bird Z chromosome (including DMRT1) and to segments syntenic with this region in the human genome. Thus, platypus sex chromosomes have strong homology with bird, but not to therian sex chromosomes, implying that the therian X and Y chromosomes (and the SRY gene) evolved from an autosomal pair after the divergence of monotremes only 166 million years ago. Therefore, the therian X and Y are more than 145 million years younger than previously thought.

  11. Haplotypes of beta S chromosomes among patients with sickle cell anemia from Georgia.

    PubMed

    Hattori, Y; Kutlar, F; Kutlar, A; McKie, V C; Huisman, T H

    1986-01-01

    Fetal hemoglobin and G gamma levels have been correlated with the presence or absence of eight restriction sites within the beta globin gene cluster (haplotypes) for numerous sickle cell anemia patients from Georgia. The most common haplotypes were #19 (Benin) and #20 (CAR); all patients with haplotype combinations 19/19, 20/20, and 19/20 were severely affected with low Hb F and low G gamma levels. A modified #19 beta S chromosome with a -G gamma-G gamma- globin gene arrangement, instead of -G gamma-A gamma-, was present in SS and SC newborn babies with G gamma values above 80%. Haplotype #3 (Senegal) was present among 15% of the beta S chromosomes; the two adult patients with the 3/3 combination were mildly affected with high Hb F and G gamma values. The haplotype AT with the variant A gamma T chain was a rarity. A new haplotype was found in one 17-year-old SS patient and five of his Hb S heterozygous relatives. This haplotype is associated with an increased production of Hb F in heterozygous and homozygous Hb S individuals; this Hb F contained primarily A gamma chains. A comparison was made between the different haplotypes among SS patients and normal Black individuals, and a remarkable similarity was noted in the fetal hemoglobin data for subjects with these different chromosomes.

  12. Chromosome Disorder Outreach

    MedlinePlus

    ... Visit our Photo Gallery Education, Advocacy, Information & Support Chromosome Disorder Outreach, Inc is a non-profit organization. ... Inc. All Rights Reserved You are donating to : Chromosome Disorder Outreach, Inc, a 501c non-profit organization. ...

  13. Human X chromosome

    SciTech Connect

    1993-12-31

    Chapter 21, describes in detail the human X chromosome. X chromatin (or Barr body) formation, inactivation and reactivation of the X chromosome, X;Y translocations, and sex reversal are discussed. 30 refs., 3 figs.

  14. Optimal Arrangement of Components Via Pairwise Rearrangements.

    DTIC Science & Technology

    1987-10-01

    reliability function under component pairwise rearrangement. They use this property to find the optimal component arrangement. Worked examples illustrate the methods proposed. Keywords: Optimization; Permutations; Nodes.

  15. Schizophrenia and chromosomal deletions

    SciTech Connect

    Lindsay, E.A.; Baldini, A.; Morris, M. A.

    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.

  16. Form Analysis for Jazz Arrangers.

    ERIC Educational Resources Information Center

    Smith, John C.

    1980-01-01

    The author discusses the importance of the study of the contour of form and of a review of how music elements affect contour when studying jazz composition. When this has been mastered, students can begin the study of style. (Author/KC)

  17. Chromosomal Disorders and Autism.

    ERIC Educational Resources Information Center

    Gillberg, Christopher

    1998-01-01

    This paper reviews the literature on chromosomal aberrations in autism, especially possible gene markers. It notes that Chromosome 15 and numerical and structural abnormalities of the sex chromosomes have been most frequently reported as related to the genesis of autism. (Author/DB)

  18. Chromosomal Disorders and Autism.

    ERIC Educational Resources Information Center

    Gillberg, Christopher

    1998-01-01

    This paper reviews the literature on chromosomal aberrations in autism, especially possible gene markers. It notes that Chromosome 15 and numerical and structural abnormalities of the sex chromosomes have been most frequently reported as related to the genesis of autism. (Author/DB)

  19. Chromosomal development of cancer

    SciTech Connect

    1993-12-31

    Chapter 30, describes the chromosomal development of cancer. It has been established through cytological research that the number of chromosomes in cancer cells often deviates greatly from the usual number in healthy cells of the host organism. This chapter includes discussions on chromosome studies in ascites tumors, stemline and tumor development, mitotic aberrations in cancer, and selection and tumor progression. 25 refs., 2 figs.

  20. Abnormal human sex chromosome constitutions

    SciTech Connect

    1993-12-31

    Chapter 22, discusses abnormal human sex chromosome constitution. Aneuploidy of X chromosomes with a female phenotype, sex chromosome aneuploidy with a male phenotype, and various abnormalities in X chromosome behavior are described. 31 refs., 2 figs.

  1. The human Y chromosome.

    PubMed Central

    Goodfellow, P; Darling, S; Wolfe, J

    1985-01-01

    Despite its central role in sex determination, genetic analysis of the Y chromosome has been slow. This poor progress has been due to the paucity of available genetic markers. Whereas the X chromosome is known to include at least 100 functional genetic loci, only three or four loci have been ascribed to the Y chromosome and even the existence of several of these loci is controversial. Other factors limiting genetic analysis are the small size of the Y chromosome, which makes cytogenetic definition difficult, and the absence of extensive recombination. Based on cytogenetic observation and speculation, a working model of the Y chromosome has been proposed. In this classical model the Y chromosome is defined into subregions; an X-Y homologous meiotic pairing region encompassing most of the Y chromosome short arm and, perhaps, including a pseudoautosomal region of sex chromosome exchange; a pericentric region containing the sex determining gene or genes; and a long arm heterochromatic genetically inert region. The classical model has been supported by studies on the MIC2 loci, which encode a cell surface antigen defined by the monoclonal antibody 12E7. The X linked locus MIC2X, which escapes X inactivation, maps to the tip of the X chromosome short arm and the homologous locus MIC2Y maps to the Y chromosome short arm; in both cases, these loci are within the proposed meiotic pairing region. MIC2Y is the first biochemically defined, expressed locus to be found on the human Y chromosome. The proposed simplicity of the classical model has been challenged by recent molecular analysis of the Y chromosome. Using cloned probes, several groups have shown that a major part of the Y chromosome short arm is unlikely to be homologous to the X chromosome short arm. A substantial block of sequences of the short arm are homologous to sequences of the X chromosome long arm but well outside the pairing region. In addition, the short arm contains sequences shared with the Y chromosome

  2. Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization

    PubMed Central

    Smith, Leslie; Thayer, Mathew

    2012-01-01

    Mammalian DNA replication initiates at multiple sites along chromosomes at different times during S phase, following a temporal replication program. The specification of replication timing is thought to be a dynamic process regulated by tissue-specific and developmental cues that are responsive to epigenetic modifications. However, the mechanisms regulating where and when DNA replication initiates along chromosomes remains poorly understood. Homologous chromosomes usually replicate synchronously, however there are notable exceptions to this rule. For example, in female mammalian cells one of the two X chromosomes becomes late replicating through a process known as X inactivation1. Along with this delay in replication timing, estimated to be 2-3 hr, the majority of genes become transcriptionally silenced on one X chromosome. In addition, a discrete cis-acting locus, known as the X inactivation center, regulates this X inactivation process, including the induction of delayed replication timing on the entire inactive X chromosome. In addition, certain chromosome rearrangements found in cancer cells and in cells exposed to ionizing radiation display a significant delay in replication timing of >3 hours that affects the entire chromosome2,3. Recent work from our lab indicates that disruption of discrete cis-acting autosomal loci result in an extremely late replicating phenotype that affects the entire chromosome4. Additional 'chromosome engineering' studies indicate that certain chromosome rearrangements affecting many different chromosomes result in this abnormal replication-timing phenotype, suggesting that all mammalian chromosomes contain discrete cis-acting loci that control proper replication timing of individual chromosomes5. Here, we present a method for the quantitative analysis of chromosome replication timing combined with fluorescent in situ hybridization. This method allows for a direct comparison of replication timing between homologous chromosomes within

  3. Entropic effects in formation of chromosome territories: towards understanding of radiation-induced gene translocation frequency

    NASA Astrophysics Data System (ADS)

    Gudowska-Nowak, Ewa; Ritter, Sylvia; Durante, Marco; Deperas-Standylo, Joanna; Ciesla, Michal

    2012-07-01

    A detailed understanding of structural organization of biological target, such as geometry of an inter-phase chromosome, is an essential prerequisite for gaining deeper insight into relationship between radiation track structure and radiation-induced biological damage [1]. In particular, coupling of biophysical models aimed to describe architecture of chromosomes and their positioning in a cell nucleus [2-4] with models of local distribution of ionizations caused by passing projectiles, are expected to result in more accurate estimates of aberration induction caused by radiation. There is abundant experimental evidence indicating that arrangements of chromosomes in eukaryotic cell nucleus is non-random and has been evolutionary conserved in specific cell types. Moreover, the radial position of a given chromosome territory (CT) within the cell nucleus has been shown to correlate with its size and gene density. Usually it is assumed that chromosomal geometry and positioning result from the action of specific forces acting locally, such as hydrogen bonds, electrostatic, Van der Waals or hydrophobic interactions operating between nucleosomes and within their interiors. However, it is both desirable and instructive to learn to what extend organization of inter-phase chromosomes is affected by nonspecific entropic forces. In this study we report results of a coarse-grained analysis of a chromatin structure modeled by two distinct approaches. In the first method, we adhere to purely statistical analysis of chromatin packing within a chromosome territory. On the basis of the polymer theory, the chromatin fiber of diameter 30nm is approximated by a chain of spheres, each corresponding to about 30 kbp. Random positioning of the center of the domain is repeated for 1000 spherical nuclei. Configuration of the domain is determined by a random packing of a polymer (a string of identical beads) in estimated fraction of space occupied by a chromosome of a given length and mass

  4. The terminal DNA structure of mammalian chromosomes.

    PubMed Central

    McElligott, R; Wellinger, R J

    1997-01-01

    In virtually all eukaryotic organisms, telomeric DNA is composed of a variable number of short direct repeats. While the primary sequence of telomeric repeats has been determined for a great variety of species, the actual physical DNA structure at the ends of a bona fide metazoan chromosome with a centromere is unknown. It is shown here that an overhang of the strand forming the 3' ends of the chromosomes, the G-rich strand, is found at mammalian chromosome ends. Moreover, on at least some telomeres, the overhangs are > or = 45 bases long. Such surprisingly long overhangs were present on chromosomes derived from fully transformed tissue culture cells and normal G0-arrested peripheral leukocytes. Thus, irrespective of whether the cells were actively dividing or arrested, a very similar terminal DNA arrangement was found. These data suggest that the ends of mammalian and possibly all vertebrate chromosomes consist of an overhang of the G-rich strand and that these overhangs may be considerably larger than previously anticipated. PMID:9218811

  5. Dispensable chromosomes in Fusarium oxysporum f. sp. lycopersici.

    PubMed

    Vlaardingerbroek, Ido; Beerens, Bas; Schmidt, Sarah M; Cornelissen, Ben J C; Rep, Martijn

    2016-12-01

    The genomes of many filamentous fungi consist of a 'core' part containing conserved genes essential for normal development as well as conditionally dispensable (CD) or lineage-specific (LS) chromosomes. In the plant-pathogenic fungus Fusarium oxysporum f. sp. lycopersici, one LS chromosome harbours effector genes that contribute to pathogenicity. We employed flow cytometry to select for events of spontaneous (partial) loss of either the two smallest LS chromosomes or two different core chromosomes. We determined the rate of spontaneous loss of the 'effector' LS chromosome in vitro at around 1 in 35 000 spores. In addition, a viable strain was obtained lacking chromosome 12, which is considered to be a part of the core genome. We also isolated strains carrying approximately 1-Mb deletions in the LS chromosomes and in the dispensable core chromosome. The large core chromosome 1 was never observed to sustain deletions over 200 kb. Whole-genome sequencing revealed that some of the sites at which the deletions occurred were the same in several independent strains obtained for the two chromosomes tested, indicating the existence of deletion hotspots. For the core chromosome, this deletion hotspot was the site of insertion of the marker used to select for loss events. Loss of the core chromosome did not affect pathogenicity, whereas loss of the effector chromosome led to a complete loss of pathogenicity. © 2016 THE AUTHORS. MOLECULAR PLANT PATHOLOGY PUBLISHED BY BRITISH SOCIETY FOR PLANT PATHOLOGY AND JOHN WILEY & SONS LTD.

  6. Mapping strategies: Chromosome 16 workshop

    SciTech Connect

    Not Available

    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.

  7. Chromosome instability syndromes

    SciTech Connect

    1993-12-31

    Chapter 11, discusses chromosome instability syndromes. The focus is on the most extensively studied genotypic chromosomal aberrations which include Bloom syndrome, Fanconi anemia, ataxia telangiectasia, and xeroderma pigmentosum. The great interest in these syndromes is out of proportion to their rare occurrence; however, studies of genotypic chromosome breakage have been inspired by the hope of throwing light on chromosome structure and behavior. A table is given which relates chromosomal aberrations in Bloom syndrome which may cause or promote cancer. 34 refs., 3 figs., 1 tab.

  8. Chromosomal elements evolve at different rates in the Drosophila genome.

    PubMed Central

    González, Josefa; Ranz, José María; Ruiz, Alfredo

    2002-01-01

    Recent results indicate that the rate of chromosomal rearrangement in the genus Drosophila is the highest found so far in any eukaryote. This conclusion is based chiefly on the comparative mapping analysis of a single chromosomal element (Muller's element E) in two species, D. melanogaster and D. repleta, representing the two farthest lineages within the genus (the Sophophora and Drosophila subgenera, respectively). We have extended the analysis to two other chromosomal elements (Muller's elements A and D) and tested for differences in rate of evolution among chromosomes. With this purpose, detailed physical maps of chromosomes X and 4 of D. repleta were constructed by in situ hybridization of 145 DNA probes (gene clones, cosmids, and P1 phages) and their gene arrangements compared with those of the homologous chromosomes X and 3L of D. melanogaster. Both chromosomal elements have been extensively reshuffled over their entire length. The number of paracentric inversions fixed has been estimated as 118 +/- 17 for element A and 56 +/- 8 for element D. Comparison with previous data for elements E and B shows that there are fourfold differences in evolution rate among chromosomal elements, with chromosome X exhibiting the highest rate of rearrangement. Combining all results, we estimated that 393 paracentric inversions have been fixed in the whole genome since the divergence between D. repleta and D. melanogaster. This amounts to an average rate of 0.053 disruptions/Mb/myr, corroborating the high rate of rearrangement in the genus Drosophila. PMID:12136017

  9. Demasculinization of the Anopheles gambiae X chromosome

    PubMed Central

    2012-01-01

    Background In a number of organisms sex-biased genes are non-randomly distributed between autosomes and the shared sex chromosome X (or Z). Studies on Anopheles gambiae have produced conflicting results regarding the underrepresentation of male-biased genes on the X chromosome and it is unclear to what extent sexual antagonism, dosage compensation or X-inactivation in the male germline, the evolutionary forces that have been suggested to affect the chromosomal distribution of sex-biased genes, are operational in Anopheles. Results We performed a meta-analysis of sex-biased gene expression in Anopheles gambiae which provides evidence for a general underrepresentation of male-biased genes on the X-chromosome that increased in significance with the observed degree of sex-bias. A phylogenomic comparison between Drosophila melanogaster, Aedes aegypti and Culex quinquefasciatus also indicates that the Anopheles X chromosome strongly disfavours the evolutionary conservation of male-biased expression and that novel male-biased genes are more likely to arise on autosomes. Finally, we demonstrate experimentally that transgenes situated on the Anopheles gambiae X chromosome are transcriptionally silenced in the male germline. Conclusion The data presented here support the hypothesis that the observed demasculinization of the Anopheles X chromosome is driven by X-chromosome inactivation in the male germline and by sexual antagonism. The demasculinization appears to be the consequence of a loss of male-biased expression, rather than a failure in the establishment or the extinction of male-biased genes. PMID:22607633

  10. Chromosome morphometry in opisthorchiid species (Platyhelminthes, Trematoda).

    PubMed

    Zadesenets, Kira S; Polyakov, Andrey V; Katokhin, Alexey V; Mordvinov, Viatcheslav A; Rubtsov, Nikolay B

    2017-08-01

    Few existing studies have dealt with cytogenetics in trematodes, largely due to the attendant technical difficulty of chromosome preparation. We performed a comparative analysis of chromosomes in five opistorchiid species, including Opisthorchis felineus Rivolta, 1884, Opisthorchis viverrini Poirier, 1886, Clonorchis sinensis Cobbold, 1875, Metorchis xanthosomus Creplin 1846, and Metorchis bilis (Braun, 1790) Odening, 1962. For some of these species, no detailed morphometric description of their karyotypes has yet been published; for the karyotype of Metorchis bilis this is the first-ever description. We found that opisthorchiids, like other trematodes, are characterized by karyotypic conservatism (N=6-7) and karyotype asymmetry, although comparison of chromosome morphometric traits did reveal differences between the karyotypes of the species. Moreover, to address certain a methodological issue in trematode chromosome preparation, we analyzed how the source of chromosomal material (partenitae or mature flukes) and the chromosome preparation techniques used (air-drying and cell suspension methods) affected chromosome spreading and size, concluding that the most reliable comparative method involves comparing relative parameters (relative length, arm ratio, centromeric index) of chromosomes prepared using the same technique. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. 75 FR 346 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-05

    ... Peaceful Uses of Nuclear Energy and the Agreement Between the United States and the Government of Japan Concerning Peaceful Uses of Nuclear Energy. This subsequent arrangement concerns the retransfer of 28,409 kg... Doc No: E9-31370] DEPARTMENT OF ENERGY Proposed Subsequent Arrangement AGENCY: Office of...

  12. Retail Florist: Designing Basic Types of Arrangements.

    ERIC Educational Resources Information Center

    Southern Illinois Univ., Carbondale.

    This retail florist unit guide is provided to help teachers teach a unit on designing basic types of flower arrangements. Topics covered are principles of design, foundation materials used, foundation securing methods, tints and flower dyes, wire and ribbon sizes, color harmony, and basic types of arrangements. Learning activities include choosing…

  13. More Combinatorial Proofs via Flagpole Arrangements

    ERIC Educational Resources Information Center

    DeTemple, Duane; Reynolds, H. David, II

    2006-01-01

    Combinatorial identities are proved by counting the number of arrangements of a flagpole and guy wires on a row of blocks that satisfy a set of conditions. An identity is proved by first deriving and then equating two expressions that each count the number of permissible arrangements. Identities for binomial coefficients and recursion relations…

  14. 42 CFR 413.241 - Pharmacy arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 2 2011-10-01 2011-10-01 false Pharmacy arrangements. 413.241 Section 413.241 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES MEDICARE... Disease (ESRD) Services and Organ Procurement Costs § 413.241 Pharmacy arrangements. Effective January 1...

  15. 42 CFR 413.241 - Pharmacy arrangements.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 42 Public Health 2 2013-10-01 2013-10-01 false Pharmacy arrangements. 413.241 Section 413.241 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES MEDICARE... Disease (ESRD) Services and Organ Procurement Costs § 413.241 Pharmacy arrangements. Effective January 1...

  16. 42 CFR 413.241 - Pharmacy arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 42 Public Health 2 2014-10-01 2014-10-01 false Pharmacy arrangements. 413.241 Section 413.241 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES MEDICARE... Disease (ESRD) Services and Organ Procurement Costs § 413.241 Pharmacy arrangements. Effective January 1...

  17. 42 CFR 413.241 - Pharmacy arrangements.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 42 Public Health 2 2012-10-01 2012-10-01 false Pharmacy arrangements. 413.241 Section 413.241 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES MEDICARE... Disease (ESRD) Services and Organ Procurement Costs § 413.241 Pharmacy arrangements. Effective January 1...

  18. Retail Florist: Designing Basic Types of Arrangements.

    ERIC Educational Resources Information Center

    Southern Illinois Univ., Carbondale.

    This retail florist unit guide is provided to help teachers teach a unit on designing basic types of flower arrangements. Topics covered are principles of design, foundation materials used, foundation securing methods, tints and flower dyes, wire and ribbon sizes, color harmony, and basic types of arrangements. Learning activities include choosing…

  19. 48 CFR 48.104 - Sharing arrangements.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 48 Federal Acquisition Regulations System 1 2010-10-01 2010-10-01 false Sharing arrangements. 48.104 Section 48.104 Federal Acquisition Regulations System FEDERAL ACQUISITION REGULATION CONTRACT MANAGEMENT VALUE ENGINEERING Policies and Procedures 48.104 Sharing arrangements. ...

  20. 77 FR 22480 - Conduit Financing Arrangements; Correction

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-04-16

    ... Internal Revenue Service 26 CFR Part 1 RIN 1545-BH77 Conduit Financing Arrangements; Correction AGENCY... correction to final regulations (TD 9562) that were published in the Federal Register on Friday, December 9... arrangement. DATES: This correction is effective on April 16, 2012 and is applicable on December 9, 2011....

  1. 24 CFR 401.301 - Partnership arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 24 Housing and Urban Development 2 2011-04-01 2011-04-01 false Partnership arrangements. 401.301...) § 401.301 Partnership arrangements. If the PAE is in a partnership, the PRA must specify the following: (a) The responsibilities of each partner regarding the Restructuring Plan; (b) The resources...

  2. More Combinatorial Proofs via Flagpole Arrangements

    ERIC Educational Resources Information Center

    DeTemple, Duane; Reynolds, H. David, II

    2006-01-01

    Combinatorial identities are proved by counting the number of arrangements of a flagpole and guy wires on a row of blocks that satisfy a set of conditions. An identity is proved by first deriving and then equating two expressions that each count the number of permissible arrangements. Identities for binomial coefficients and recursion relations…

  3. 24 CFR 401.301 - Partnership arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 24 Housing and Urban Development 2 2014-04-01 2014-04-01 false Partnership arrangements. 401.301 Section 401.301 Housing and Urban Development Regulations Relating to Housing and Urban Development...) § 401.301 Partnership arrangements. If the PAE is in a partnership, the PRA must specify the...

  4. 24 CFR 401.301 - Partnership arrangements.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 24 Housing and Urban Development 2 2010-04-01 2010-04-01 false Partnership arrangements. 401.301 Section 401.301 Housing and Urban Development Regulations Relating to Housing and Urban Development...) § 401.301 Partnership arrangements. If the PAE is in a partnership, the PRA must specify the...

  5. 24 CFR 401.301 - Partnership arrangements.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 24 Housing and Urban Development 2 2013-04-01 2013-04-01 false Partnership arrangements. 401.301 Section 401.301 Housing and Urban Development Regulations Relating to Housing and Urban Development...) § 401.301 Partnership arrangements. If the PAE is in a partnership, the PRA must specify the...

  6. 24 CFR 401.301 - Partnership arrangements.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 24 Housing and Urban Development 2 2012-04-01 2012-04-01 false Partnership arrangements. 401.301 Section 401.301 Housing and Urban Development Regulations Relating to Housing and Urban Development...) § 401.301 Partnership arrangements. If the PAE is in a partnership, the PRA must specify the...

  7. 7 CFR 28.906 - Sampling arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 7 Agriculture 2 2011-01-01 2011-01-01 false Sampling arrangements. 28.906 Section 28.906... Producers Sampling § 28.906 Sampling arrangements. (a) Cotton must be sampled by a gin or warehouse that... an authorized representative may direct that sampling be performed by employees of the Department of...

  8. 7 CFR 28.906 - Sampling arrangements.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 7 Agriculture 2 2013-01-01 2013-01-01 false Sampling arrangements. 28.906 Section 28.906... Producers Sampling § 28.906 Sampling arrangements. (a) Cotton must be sampled by a gin or warehouse that... an authorized representative may direct that sampling be performed by employees of the Department of...

  9. 7 CFR 28.906 - Sampling arrangements.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 7 Agriculture 2 2012-01-01 2012-01-01 false Sampling arrangements. 28.906 Section 28.906... Producers Sampling § 28.906 Sampling arrangements. (a) Cotton must be sampled by a gin or warehouse that... an authorized representative may direct that sampling be performed by employees of the Department of...

  10. 7 CFR 28.906 - Sampling arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 7 Agriculture 2 2014-01-01 2014-01-01 false Sampling arrangements. 28.906 Section 28.906... Producers Sampling § 28.906 Sampling arrangements. (a) Cotton must be sampled by a gin or warehouse that... an authorized representative may direct that sampling be performed by employees of the Department of...

  11. 7 CFR 28.906 - Sampling arrangements.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 7 Agriculture 2 2010-01-01 2010-01-01 false Sampling arrangements. 28.906 Section 28.906... Producers Sampling § 28.906 Sampling arrangements. (a) Cotton must be sampled by a gin or warehouse that... an authorized representative may direct that sampling be performed by employees of the Department of...

  12. 48 CFR 48.104 - Sharing arrangements.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 48 Federal Acquisition Regulations System 1 2013-10-01 2013-10-01 false Sharing arrangements. 48.104 Section 48.104 Federal Acquisition Regulations System FEDERAL ACQUISITION REGULATION CONTRACT MANAGEMENT VALUE ENGINEERING Policies and Procedures 48.104 Sharing arrangements....

  13. 48 CFR 48.104 - Sharing arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 48 Federal Acquisition Regulations System 1 2014-10-01 2014-10-01 false Sharing arrangements. 48.104 Section 48.104 Federal Acquisition Regulations System FEDERAL ACQUISITION REGULATION CONTRACT MANAGEMENT VALUE ENGINEERING Policies and Procedures 48.104 Sharing arrangements....

  14. 48 CFR 48.104 - Sharing arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 48 Federal Acquisition Regulations System 1 2011-10-01 2011-10-01 false Sharing arrangements. 48.104 Section 48.104 Federal Acquisition Regulations System FEDERAL ACQUISITION REGULATION CONTRACT MANAGEMENT VALUE ENGINEERING Policies and Procedures 48.104 Sharing arrangements....

  15. 48 CFR 48.104 - Sharing arrangements.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 48 Federal Acquisition Regulations System 1 2012-10-01 2012-10-01 false Sharing arrangements. 48.104 Section 48.104 Federal Acquisition Regulations System FEDERAL ACQUISITION REGULATION CONTRACT MANAGEMENT VALUE ENGINEERING Policies and Procedures 48.104 Sharing arrangements....

  16. External Quality Arrangements for Scotland's Colleges

    ERIC Educational Resources Information Center

    Her Majesty's Inspectorate of Education, 2008

    2008-01-01

    This document represents an innovative and radical landmark in the development of external quality arrangements for Scotland's colleges. The quality framework and arrangements for annual engagement, subject-based aspect reports, and external review reflect new thinking nationally, within HMIE, in the Scottish Further and Higher Education Funding…

  17. Cooling arrangement for a tapered turbine blade

    SciTech Connect

    Liang, George

    2010-07-27

    A cooling arrangement (11) for a highly tapered gas turbine blade (10). The cooling arrangement (11) includes a pair of parallel triple-pass serpentine cooling circuits (80,82) formed in an inner radial portion (50) of the blade, and a respective pair of single radial channel cooling circuits (84,86) formed in an outer radial portion (52) of the blade (10), with each single radial channel receiving the cooling fluid discharged from a respective one of the triple-pass serpentine cooling circuit. The cooling arrangement advantageously provides a higher degree of cooling to the most highly stressed radially inner portion of the blade, while providing a lower degree of cooling to the less highly stressed radially outer portion of the blade. The cooling arrangement can be implemented with known casting techniques, thereby facilitating its use on highly tapered, highly twisted Row 4 industrial gas turbine blades that could not be cooled with prior art cooling arrangements.

  18. Engineering of plant chromosomes.

    PubMed

    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.

  19. Fluorescence in situ hybridization and optical mapping to correct scaffold arrangement in the tomato genome.

    PubMed

    Shearer, Lindsay A; Anderson, Lorinda K; de Jong, Hans; Smit, Sandra; Goicoechea, José Luis; Roe, Bruce A; Hua, Axin; Giovannoni, James J; Stack, Stephen M

    2014-05-30

    The order and orientation (arrangement) of all 91 sequenced scaffolds in the 12 pseudomolecules of the recently published tomato (Solanum lycopersicum, 2n = 2x = 24) genome sequence were positioned based on marker order in a high-density linkage map. Here, we report the arrangement of these scaffolds determined by two independent physical methods, bacterial artificial chromosome-fluorescence in situ hybridization (BAC-FISH) and optical mapping. By localizing BACs at the ends of scaffolds to spreads of tomato synaptonemal complexes (pachytene chromosomes), we showed that 45 scaffolds, representing one-third of the tomato genome, were arranged differently than predicted by the linkage map. These scaffolds occur mostly in pericentric heterochromatin where 77% of the tomato genome is located and where linkage mapping is less accurate due to reduced crossing over. Although useful for only part of the genome, optical mapping results were in complete agreement with scaffold arrangement by FISH but often disagreed with scaffold arrangement based on the linkage map. The scaffold arrangement based on FISH and optical mapping changes the positions of hundreds of markers in the linkage map, especially in heterochromatin. These results suggest that similar errors exist in pseudomolecules from other large genomes that have been assembled using only linkage maps to predict scaffold arrangement, and these errors can be corrected using FISH and/or optical mapping. Of note, BAC-FISH also permits estimates of the sizes of gaps between scaffolds, and unanchored BACs are often visualized by FISH in gaps between scaffolds and thus represent starting points for filling these gaps. Copyright © 2014 Shearer et al.

  20. Whole chromosome elimination and chromosome terminus elimination both contribute to somatic differentiation in Taiwanese hagfish Paramyxine sheni.

    PubMed

    Kojima, Noriko F; Kojima, Kenji K; Kobayakawa, Shuichi; Higashide, Naoki; Hamanaka, Chiemi; Nitta, Ayumi; Koeda, Ikuyo; Yamaguchi, Toru; Shichiri, Motoharu; Kohno, Sei-ichi; Kubota, Souichirou

    2010-04-01

    Chromosome elimination is a process in which some chromatins are discarded from the presumptive somatic cells during early embryogenesis. Eliminated chromatins in hagfish generally consist of repetitive sequences, and they are highly heterochromatinized in germ cells. In this study, we characterized four novel eliminated DNA families, EEPs1-4, from the Taiwanese hagfish Paramyxine sheni. Sequences of these four elements occupied 20-27% of eliminated DNA in total, and each family was arranged mainly in tandem in the germline genome with high copy numbers. Although most of these elements were eliminated, a minor fraction remained in somatic cells. Some eliminated DNA families are shared as eliminated sequences between Eptatretidae and Myxinidae. Fluorescence in situ hybridization (FISH) of these elements showed that not only heterochromatic chromosomes but also both ends of euchromatic chromosomes in germ cells are absent in somatic cells of P. sheni. It strongly suggests that chromosome terminus elimination, in addition to whole chromosome elimination, contributes to somatic chromosome differentiation. Telomere-FISH further showed that chromosome fragmentation and the subsequent de novo addition of telomeric repeats are the likely mechanisms underlying chromosome terminus elimination. These characteristics make it indispensable to study the evolution and mechanisms underlying chromosome elimination in hagfish.

  1. Chromosomes, conflict, and epigenetics: chromosomal speciation revisited.

    PubMed

    Brown, Judith D; O'Neill, Rachel J

    2010-01-01

    Since Darwin first noted that the process of speciation was indeed the "mystery of mysteries," scientists have tried to develop testable models for the development of reproductive incompatibilities-the first step in the formation of a new species. Early theorists proposed that chromosome rearrangements were implicated in the process of reproductive isolation; however, the chromosomal speciation model has recently been questioned. In addition, recent data from hybrid model systems indicates that simple epistatic interactions, the Dobzhansky-Muller incompatibilities, are more complex. In fact, incompatibilities are quite broad, including interactions among heterochromatin, small RNAs, and distinct, epigenetically defined genomic regions such as the centromere. In this review, we will examine both classical and current models of chromosomal speciation and describe the "evolving" theory of genetic conflict, epigenetics, and chromosomal speciation.

  2. Neocentromere-mediated Chromosome Movement in Maize

    PubMed Central

    Yu, Hong-Guo; Hiatt, Evelyn N.; Chan, Annette; Sweeney, Mary; Dawe, R. Kelly

    1997-01-01

    Neocentromere activity is a classic example of nonkinetochore chromosome movement. In maize, neocentromeres are induced by a gene or genes on Abnormal chromosome 10 (Ab10) which causes heterochromatic knobs to move poleward at meiotic anaphase. Here we describe experiments that test how neocentromere activity affects the function of linked centromere/kinetochores (kinetochores) and whether neocentromeres and kinetochores are mobilized on the spindle by the same mechanism. Using a newly developed system for observing meiotic chromosome congression and segregation in living maize cells, we show that neocentromeres are active from prometaphase through anaphase. During mid-anaphase, normal chromosomes move on the spindle at an average rate of 0.79 μm/min. The presence of Ab10 does not affect the rate of normal chromosome movement but propels neocentromeres poleward at rates as high as 1.4 μm/min. Kinetochore-mediated chromosome movement is only marginally affected by the activity of a linked neocentromere. Combined in situ hybridization/immunocytochemistry is used to demonstrate that unlike kinetochores, neocentromeres associate laterally with microtubules and that neocentromere movement is correlated with knob size. These data suggest that microtubule depolymerization is not required for neocentromere motility. We argue that neocentromeres are mobilized on microtubules by the activity of minus end–directed motor proteins that interact either directly or indirectly with knob DNA sequences. PMID:9362502

  3. A survey of UK fertility clinics' approach to surrogacy arrangements.

    PubMed

    Norton, Wendy; Crawshaw, Marilyn; Hudson, Nicky; Culley, Lorraine; Law, Caroline

    2015-09-01

    This paper draws on the findings of the first survey of surrogacy arrangements in Human Fertilisation and Embryology Authority (HFEA) licensed fertility clinics since 1998. Given the complex social, ethical and legal issues involved, surrogacy continues to raise debate worldwide and fuel calls for increased domestic provision in developed countries. However, little is known about how recent changes have affected HFEA licensed clinics. A 24-item online survey was undertaken between August and October 2013, designed to improve understanding of recent trends and current practices associated with UK-based surrogacy, and consider the implications for future policy and practice in UK and cross-border surrogacy arrangements. The response rate was 51.4%, comprising 54 clinics. Quantitative data were analysed using descriptive statistics, and open-ended qualitative responses analysed for extending understanding. Of the participating clinics, 42.6% offered surrogacy (mostly gestational surrogacy). Heterosexual couples using gestational surrogacy were the largest group currently using services followed by male same-sex couples. Most clinics reported having encountered problems with surrogacy treatments, suggesting barriers still exist to expanding the UK provision of surrogacy arrangements. It is important that professionals are well informed about the legal implications of surrogacy and that clinics have consistent and appropriate operational protocols for surrogacy arrangements. Copyright © 2015 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  4. A new marker, black, a useful recombination suppressor, In(2)2, and a balanced lethal for chromosome 2 of the mosquito Anopheles gambiae.

    PubMed

    Benedict, M Q; McNitt, L M; Cornel, A J; Collins, F H

    1999-10-01

    A new marker for the second chromosome of Anopheles gambiae, black, was isolated from progeny of 60Co-irradiated mosquitoes. The black mutation increases melanization of larval setae and portions of the cuticle that are heavily sclerotized such as the saddle and head capsule. Adults have a sooty color that almost completely eliminates white banding on wings, tarsi, and palps. Fertility and general vigor of black individuals is reduced relative to wild-type; however, this does not prevent routine use for genetic crossing. The black marker was mapped to an interval on chromosome 2 between collarless and Dieldrin resistance 22 centiMorgans (cM) from collarless and 39 cM from Dieldrin resistance. We also isolated from 60Co-irradiated mosquitoes a pericentric inversion, In(2)2, that was marked with dominant alleles of the independently assorting genes collarless and Dieldrin resistance. This inversion is in coupling with the pericentric inversion 2Rd and covers approximately two-thirds of chromosome 2 from divisions 9 to 22. While inbreeding In(2)2 heterozygotes, we isolated a stock in which the inversion was in repulsion to a chromosome marked with c b DlS and an unidentified recessive lethal. This arrangement produced a useful and stable chromosome 2 balancer system that has remained intact for 26 generations without selection. These genetic tools will reduce the effort requires to isolate, among other things, the genetic factors affecting malaria parasite interactions with the mosquito host.

  5. The X chromosome and immune associated genes.

    PubMed

    Bianchi, Ilaria; Lleo, Ana; Gershwin, M Eric; Invernizzi, Pietro

    2012-05-01

    The X chromosome is known to contain the largest number of immune-related genes of the whole human genome. For this reason, X chromosome has recently become subject of great interest and attention and numerous studies have been aimed at understanding the role of genes on the X chromosome in triggering and maintaining the autoimmune aggression. Autoimmune diseases are indeed a growing heath burden affecting cumulatively up to 10% of the general population. It is intriguing that most X-linked primary immune deficiencies carry significant autoimmune manifestations, thus illustrating the critical role played by products of single gene located on the X chromosome in the onset, function and homeostasis of the immune system. Again, the plethora of autoimmune stigmata observed in patients with Turner syndrome, a disease due to the lack of one X chromosome or the presence of major X chromosome deletions, indicate that X-linked genes play a unique and major role in autoimmunity. There have been several reports on a role of X chromosome gene dosage through inactivation or duplication in women with autoimmune diseases, for example through a higher rate of circulating cells with a single X chromosome (i.e. with X monosomy). Finally, a challenge for researchers in the coming years will be to dissect the role for the large number of X-linked microRNAs from the perspective of autoimmune disease development. Taken together, X chromosome might well constitute the common trait of the susceptibility to autoimmune diseases, other than to explain the female preponderance of these conditions. This review will focus on the available evidence on X chromosome changes and discuss their potential implications and limitations. Copyright © 2011 Elsevier Ltd. All rights reserved.

  6. Filling arrangement for coke oven chambers

    SciTech Connect

    Galow, M.

    1984-03-27

    An arrangement for filling at least one coke oven chamber has a transport device arranged to transport coal, a chute member located under the transport device to guide coal to a filling opening of the coke oven chamber, at least one closing member arranged between the chute member and the filling opening of the coke oven chamber, and a sliding plate moveable in a housing above the chute member between open and closed positions, wherein the sliding plate and the housing in its region in which the sliding plate is in its open position are inclined toward a horizontal.

  7. Analysis of plant meiotic chromosomes by chromosome painting.

    PubMed

    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.

  8. Distinct nuclear arrangement of active and inactive c-myc genes in control and differentiated colon carcinoma cells

    SciTech Connect

    Harnicarova, Andrea; Kozubek, Stanislav . E-mail: kozubek@ibp.cz; Pachernik, Jiri; Krejci, Jana; Bartova, Eva

    2006-12-10

    Using sequential RNA-DNA fluorescence in situ hybridization, the nuclear arrangement of both the active and inactive c-myc gene as well as its transcription was investigated in colon cancer HT-29 cells induced to differentiate into enterocytes. Cytogenetic studies revealed the presence of two chromosomes 8 in HT-29 cells, of which the one containing c-myc gene amplicons was substantially larger and easily distinguished from the normal chromosome. This observation enabled detection of both activity and nuclear localization of c-myc genes in single cells and in individual chromosome territories. Similar transcriptional activity of the c-myc gene was observed in both the normal and derivative chromosome 8 territories showing no influence of the amplification on the c-myc gene expression. Our experiments demonstrate strikingly specific nuclear and territorial arrangements of active genes as compared with inactive ones: on the periphery of their territories facing to the very central region of the cell nucleus. Nuclear arrangement of c-myc genes and transcripts was conserved during cell differentiation and, therefore, independent of the level of differentiation-specific c-myc gene expression. However, after the induction of differentiation, a more internal territorial location was found for the single copy c-myc gene of normal chromosome 8, while amplicons conserved their territorial topography.

  9. Distinct nuclear arrangement of active and inactive c-myc genes in control and differentiated colon carcinoma cells.

    PubMed

    Harnicarová, Andrea; Kozubek, Stanislav; Pacherník, Jirí; Krejci, Jana; Bártová, Eva

    2006-12-10

    Using sequential RNA-DNA fluorescence in situ hybridization, the nuclear arrangement of both the active and inactive c-myc gene as well as its transcription was investigated in colon cancer HT-29 cells induced to differentiate into enterocytes. Cytogenetic studies revealed the presence of two chromosomes 8 in HT-29 cells, of which the one containing c-myc gene amplicons was substantially larger and easily distinguished from the normal chromosome. This observation enabled detection of both activity and nuclear localization of c-myc genes in single cells and in individual chromosome territories. Similar transcriptional activity of the c-myc gene was observed in both the normal and derivative chromosome 8 territories showing no influence of the amplification on the c-myc gene expression. Our experiments demonstrate strikingly specific nuclear and territorial arrangements of active genes as compared with inactive ones: on the periphery of their territories facing to the very central region of the cell nucleus. Nuclear arrangement of c-myc genes and transcripts was conserved during cell differentiation and, therefore, independent of the level of differentiation-specific c-myc gene expression. However, after the induction of differentiation, a more internal territorial location was found for the single copy c-myc gene of normal chromosome 8, while amplicons conserved their territorial topography.

  10. Distinct and shared three‐dimensional chromosome organization patterns in lymphocytes, monoclonal gammopathy of undetermined significance and multiple myeloma

    PubMed Central

    Sathitruangsak, Chirawadee; Righolt, Christiaan H.; Klewes, Ludger; Tung Chang, Doris; Kotb, Rami

    2016-01-01

    The consistent appearance of specific chromosomal translocations in multiple myeloma has suggested that the positioning of chromosomes in the interphase nucleus might play a role in the occurrence of particular chromosomal rearrangements associated with malignant transformation. Using fluorescence in situ hybridization, we have determined the positions of selected chromosome pairs (18 and 19, 9 and 22, 4 and 14, 14 and 16, 11 and 14) in interphase nuclei of myeloma cells compared to normal lymphocytes of treatment‐naïve patients. All chromosome pairs were arranged in a nonrandom pattern. Chromosomes commonly involved in myeloma‐associated translocations (4 and 14, 14 and 16, 11 and 14) were found in close spatial proximity, and this is correlated with the occurrence of overlapping chromosome territories. The spatial distribution of chromosomes may increase the possibility of chromosomal translocations in multiple myeloma. PMID:27711972

  11. 29 CFR 779.229 - Other arrangements.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ...) advertising; (3) sales promotions; (4) managerial advice; (5) store engineering; (6) accounting systems; (7... the arrangements are so restrictive as to products, prices, profits, or management as to deny...

  12. Flood risk governance arrangements in Europe

    NASA Astrophysics Data System (ADS)

    Matczak, P.; Lewandowski, J.; Choryński, A.; Szwed, M.; Kundzewicz, Z. W.

    2015-06-01

    The STAR-FLOOD (Strengthening and Redesigning European Flood Risk Practices Towards Appropriate and Resilient Flood Risk Governance Arrangements) project, funded by the European Commission, investigates strategies for dealing with flood risk in six European countries: Belgium, the UK, France, the Netherlands, Poland and Sweden and in 18 vulnerable urban regions in these countries. The project aims to describe, analyse, explain, and evaluate the main similarities and differences between the selected EU Member States in terms of development and performance of flood risk governance arrangements. It also discusses the scientific and societal importance of these similarities and differences. Attention is paid to identification and characterization of shifts in flood risk governance arrangements and in flood risk management strategies and to determination of triggering factors and restraining factors. An assessment of a change of resilience and appropriateness (legitimacy, effectiveness, efficiency) of flood risk governance arrangements in Poland is presented and comparison with other European countries is offered.

  13. 76 FR 17407 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-29

    ... and the Argentine Republic Concerning Peaceful Uses of Nuclear Energy. DATES: This subsequent... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY... of Energy. ACTION: Proposed subsequent arrangement. SUMMARY: This notice is being issued under...

  14. 77 FR 53876 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-09-04

    ... arrangement concerns the retransfer of 2,959,580 kg of U.S.-origin natural uranium hexafluoride (UF6) (67.60% U), 2,000,000 kg of which is uranium, from Cameco Corporation (Cameco) in Saskatoon, Saskatchewan...

  15. Optimal hash arrangement of tentacles in jellyfish

    PubMed Central

    Okabe, Takuya; Yoshimura, Jin

    2016-01-01

    At first glance, the trailing tentacles of a jellyfish appear to be randomly arranged. However, close examination of medusae has revealed that the arrangement and developmental order of the tentacles obey a mathematical rule. Here, we show that medusa jellyfish adopt the best strategy to achieve the most uniform distribution of a variable number of tentacles. The observed order of tentacles is a real-world example of an optimal hashing algorithm known as Fibonacci hashing in computer science. PMID:27273762

  16. Magnetic Material Arrangement In Apis Mellifera Abdomens

    DTIC Science & Technology

    2002-04-01

    UNCLASSIFIED Defense Technical Information Center Compilation Part Notice ADP014406 TITLE: Magnetic Material Arrangement In Apis Mellifera Abdomens...Magnetic Material Arrangement In Apis Mellifera Abdomens Darci M. S. Esquivel, Eliane Wajnberg, Geraldo R. Cernicchiaro, Daniel Acosta-Avalos’ and B.E...transition (52 K- 91 K). Hysteresis curves of Apis mellifera abdomens organized parallel and perpendicular to the applied magnetic field were obtained

  17. Optimal hash arrangement of tentacles in jellyfish

    NASA Astrophysics Data System (ADS)

    Okabe, Takuya; Yoshimura, Jin

    2016-06-01

    At first glance, the trailing tentacles of a jellyfish appear to be randomly arranged. However, close examination of medusae has revealed that the arrangement and developmental order of the tentacles obey a mathematical rule. Here, we show that medusa jellyfish adopt the best strategy to achieve the most uniform distribution of a variable number of tentacles. The observed order of tentacles is a real-world example of an optimal hashing algorithm known as Fibonacci hashing in computer science.

  18. Optimization of lamp arrangement in a closed-conduit UV reactor based on a genetic algorithm.

    PubMed

    Sultan, Tipu; Ahmad, Zeshan; Cho, Jinsoo

    2016-01-01

    The choice for the arrangement of the UV lamps in a closed-conduit ultraviolet (CCUV) reactor significantly affects the performance. However, a systematic methodology for the optimal lamp arrangement within the chamber of the CCUV reactor is not well established in the literature. In this research work, we propose a viable systematic methodology for the lamp arrangement based on a genetic algorithm (GA). In addition, we analyze the impacts of the diameter, angle, and symmetry of the lamp arrangement on the reduction equivalent dose (RED). The results are compared based on the simulated RED values and evaluated using the computational fluid dynamics simulations software ANSYS FLUENT. The fluence rate was calculated using commercial software UVCalc3D, and the GA-based lamp arrangement optimization was achieved using MATLAB. The simulation results provide detailed information about the GA-based methodology for the lamp arrangement, the pathogen transport, and the simulated RED values. A significant increase in the RED values was achieved by using the GA-based lamp arrangement methodology. This increase in RED value was highest for the asymmetric lamp arrangement within the chamber of the CCUV reactor. These results demonstrate that the proposed GA-based methodology for symmetric and asymmetric lamp arrangement provides a viable technical solution to the design and optimization of the CCUV reactor.

  19. Tissue-Specific Differences in the Spatial Interposition of X-Chromosome and 3R Chromosome Regions in the Malaria Mosquito Anopheles messeae Fall.

    PubMed Central

    Artemov, Gleb; Bondarenko, Semen; Sapunov, Gleb; Stegniy, Vladimir

    2015-01-01

    Spatial organization of a chromosome in a nucleus is very important in biology but many aspects of it are still generally unresolved. We focused on tissue-specific features of chromosome architecture in closely related malaria mosquitoes, which have essential inter-specific differences in polytene chromosome attachments in nurse cells. We showed that the region responsible for X-chromosome attachment interacts with nuclear lamina stronger in nurse cells, then in salivary glands cells in Anopheles messeae Fall. The inter-tissue differences were demonstrated more convincingly in an experiment of two distinct chromosomes interposition in the nucleus space of cells from four tissues. Microdissected DNA-probes from nurse cells X-chromosome (2BC) and 3R chromosomes (32D) attachment regions were hybridized with intact nuclei of nurse cells, salivary gland cells, follicle epithelium cells and imaginal disсs cells in 3D-FISH experiments. We showed that only salivary gland cells and follicle epithelium cells have no statistical differences in the interposition of 2BC and 32D. Generally, the X-chromosome and 3R chromosome are located closer to each other in cells of the somatic system in comparison with nurse cells on average. The imaginal disсs cell nuclei have an intermediate arrangement of chromosome interposition, similar to other somatic cells and nurse cells. In spite of species-specific chromosome attachments there are no differences in interposition of nurse cells chromosomes in An. messeae and An. atroparvus Thiel. Nurse cells have an unusual chromosome arrangement without a chromocenter, which could be due to the special mission of generative system cells in ontogenesis and evolution. PMID:25671311

  20. Tissue-specific differences in the spatial interposition of X-chromosome and 3R chromosome regions in the malaria mosquito Anopheles messeae Fall.

    PubMed

    Artemov, Gleb; Bondarenko, Semen; Sapunov, Gleb; Stegniy, Vladimir

    2015-01-01

    Spatial organization of a chromosome in a nucleus is very important in biology but many aspects of it are still generally unresolved. We focused on tissue-specific features of chromosome architecture in closely related malaria mosquitoes, which have essential inter-specific differences in polytene chromosome attachments in nurse cells. We showed that the region responsible for X-chromosome attachment interacts with nuclear lamina stronger in nurse cells, then in salivary glands cells in Anopheles messeae Fall. The inter-tissue differences were demonstrated more convincingly in an experiment of two distinct chromosomes interposition in the nucleus space of cells from four tissues. Microdissected DNA-probes from nurse cells X-chromosome (2BC) and 3R chromosomes (32D) attachment regions were hybridized with intact nuclei of nurse cells, salivary gland cells, follicle epithelium cells and imaginal disсs cells in 3D-FISH experiments. We showed that only salivary gland cells and follicle epithelium cells have no statistical differences in the interposition of 2BC and 32D. Generally, the X-chromosome and 3R chromosome are located closer to each other in cells of the somatic system in comparison with nurse cells on average. The imaginal disсs cell nuclei have an intermediate arrangement of chromosome interposition, similar to other somatic cells and nurse cells. In spite of species-specific chromosome attachments there are no differences in interposition of nurse cells chromosomes in An. messeae and An. atroparvus Thiel. Nurse cells have an unusual chromosome arrangement without a chromocenter, which could be due to the special mission of generative system cells in ontogenesis and evolution.

  1. Kid-mediated chromosome compaction ensures proper nuclear envelope formation.

    PubMed

    Ohsugi, Miho; Adachi, Kenjiro; Horai, Reiko; Kakuta, Shigeru; Sudo, Katsuko; Kotaki, Hayato; Tokai-Nishizumi, Noriko; Sagara, Hiroshi; Iwakura, Yoichiro; Yamamoto, Tadashi

    2008-03-07

    Toward the end of mitosis, neighboring chromosomes gather closely to form a compact cluster. This is important for reassembling the nuclear envelope around the entire chromosome mass but not individual chromosomes. By analyzing mice and cultured cells lacking the expression of chromokinesin Kid/kinesin-10, we show that Kid localizes to the boundaries of anaphase and telophase chromosomes and contributes to the shortening of the anaphase chromosome mass along the spindle axis. Loss of Kid-mediated anaphase chromosome compaction often causes the formation of multinucleated cells, specifically at oocyte meiosis II and the first couple of mitoses leading to embryonic death. In contrast, neither male meiosis nor somatic mitosis after the morula-stage is affected by Kid deficiency. These data suggest that Kid-mediated anaphase/telophase chromosome compaction prevents formation of multinucleated cells. This protection is especially important during the very early stages of development, when the embryonic cells are rich in ooplasm.

  2. Sex Chromosome Evolution in Amniotes: Applications for Bacterial Artificial Chromosome Libraries

    PubMed Central

    Janes, Daniel E.; Valenzuela, Nicole; Ezaz, Tariq; Amemiya, Chris; Edwards, Scott V.

    2011-01-01

    Variability among sex chromosome pairs in amniotes denotes a dynamic history. Since amniotes diverged from a common ancestor, their sex chromosome pairs and, more broadly, sex-determining mechanisms have changed reversibly and frequently. These changes have been studied and characterized through the use of many tools and experimental approaches but perhaps most effectively through applications for bacterial artificial chromosome (BAC) libraries. Individual BAC clones carry 100–200 kb of sequence from one individual of a target species that can be isolated by screening, mapped onto karyotypes, and sequenced. With these techniques, researchers have identified differences and similarities in sex chromosome content and organization across amniotes and have addressed hypotheses regarding the frequency and direction of past changes. Here, we review studies of sex chromosome evolution in amniotes and the ways in which the field of research has been affected by the advent of BAC libraries. PMID:20981143

  3. Chromosomal differentiation of cells

    SciTech Connect

    1993-12-31

    Chapter 16, discusses the chromosomal differentiation of cells. The chromosomes of differentiated cells have been much less studies than those of meristematic or germline cells, probably because such cells do not usually divide spontaneously. However, in many cases they can be induced to undergo mitosis. 26 refs., 2 figs.

  4. Chromosomal aberrations and aneuploidies of spermatozoa.

    PubMed

    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.

  5. Tracking of chromosome dynamics in live Streptococcus pneumoniae reveals that transcription promotes chromosome segregation.

    PubMed

    Kjos, Morten; Veening, Jan-Willem

    2014-03-01

    Chromosome segregation is an essential part of the bacterial cell cycle but is poorly characterized in oval-shaped streptococci. Using time-lapse fluorescence microscopy and total internal reflection fluorescence microscopy, we have tracked the dynamics of chromosome segregation in live cells of the human pathogen Streptococcus pneumoniae. Our observations show that the chromosome segregation process last for two-thirds of the total cell cycle; the origin region segregates rapidly in the early stages of the cell cycle while nucleoid segregation finishes just before cell division. Previously we have demonstrated that the DNA-binding protein ParB and the condensin SMC promote efficient chromosome segregation, likely by an active mechanism. We now show that in the absence of SMC, cell division can occur over the unsegregated chromosomes. However, neither smc nor parB are essential in S. pneumoniae, suggesting the importance of additional mechanisms. Here we have identified the process of transcription as one of these mechanisms important for chromosome segregation in S. pneumoniae. Transcription inhibitors rifampicin and streptolydigin as well as mutants affected in transcription elongation cause chromosome segregation defects. Together, our results highlight the importance of passive (or indirect) processes such as transcription for chromosome segregation in oval-shaped bacteria.

  6. Increased sex chromosome expression and epigenetic abnormalities in spermatids from male mice with Y chromosome deletions.

    PubMed

    Reynard, Louise N; Turner, James M A

    2009-11-15

    During male meiosis, the X and Y chromosomes are transcriptionally silenced, a process termed meiotic sex chromosome inactivation (MSCI). Recent studies have shown that the sex chromosomes remain substantially transcriptionally repressed after meiosis in round spermatids, but the mechanisms involved in this later repression are poorly understood. Mice with deletions of the Y chromosome long arm (MSYq-) have increased spermatid expression of multicopy X and Y genes, and so represent a model for studying post-meiotic sex chromosome repression. Here, we show that the increase in sex chromosome transcription in spermatids from MSYq- mice affects not only multicopy but also single-copy XY genes, as well as an X-linked reporter gene. This increase in transcription is accompanied by specific changes in the sex chromosome histone code, including almost complete loss of H4K8Ac and reduction of H3K9me3 and CBX1. Together, these data show that an MSYq gene regulates sex chromosome gene expression as well as chromatin remodelling in spermatids.

  7. [Typing and number of chromosomes in the common pheasant and rock partridge].

    PubMed

    Lemáková, S

    1984-02-01

    The typology and number of chromosomes were studied in two species of feathered game: common pheasant and rock partridge. The use of the traditional method of bone marrow processing after Konstantinov and Dobriyanov (1974) made it possible in the studied species to form the caryotypes, even despite the problems encountered in avian cytogenetics. Chromosome typology was possible only in the largest chromosomes. In the remaining microchromosomes the position of centromere was not determined and the microchromosomes themselves appeared as points arranged by size in caryotypes. The number of chromosomes in common pheasant and rock partridge was 80.

  8. Sexually antagonistic chromosomal cuckoos

    PubMed Central

    Rice, William R.; Gavrilets, Sergey; Friberg, Urban

    2009-01-01

    The two kinds of sex chromosomes in the heterogametic parent are transmitted to offspring with different sexes, causing opposite-sex siblings to be completely unrelated for genes located on these chromosomes. Just as the nest-parasitic cuckoo chick is selected to harm its unrelated nest-mates in order to garner more shared resources, sibling competition causes the sex chromosomes to be selected to harm siblings that do not carry them. Here we quantify and contrast this selection on the X and Y, or Z and W, sex chromosomes. We also develop a hypothesis for how this selection can contribute to the decay of the non-recombining sex chromosome. PMID:19364719

  9. Engineered chromosomes in transgenics.

    PubMed

    Blazso, Peter; Sinko, Ildiko; Katona, Robert L

    2011-01-01

    Horizontal gene transfer or simply transgenic technology has evolved much since 1980. Gene delivery strategies, systems, and equipments have become more and more precise and efficient. It has also been shown that even chromosomes can be used besides traditional plasmid and viral vectors for zygote or embryonic stem cell transformation. Artificial chromosomes and their loadable variants have brought their advantages over traditional genetic information carriers into the field of transgenesis. Engineered chromosomes are appealing vectors for gene transfer since they have large transgene carrying capacity, they are non-integrating, and stably expressing in eukaryotic cells. Embryonic stem cell lines can be established that carry engineered chromosomes and ultimately used in transgenic mouse chimera creation. The demonstrated protocol describes all the steps necessary for the successful production of transgenic mouse chimeras with engineered chromosome bearer embryonic stem cells.

  10. Capturing Chromosome Conformation

    NASA Astrophysics Data System (ADS)

    Dekker, Job; Rippe, Karsten; Dekker, Martijn; Kleckner, Nancy

    2002-02-01

    We describe an approach to detect the frequency of interaction between any two genomic loci. Generation of a matrix of interaction frequencies between sites on the same or different chromosomes reveals their relative spatial disposition and provides information about the physical properties of the chromatin fiber. This methodology can be applied to the spatial organization of entire genomes in organisms from bacteria to human. Using the yeast Saccharomyces cerevisiae, we could confirm known qualitative features of chromosome organization within the nucleus and dynamic changes in that organization during meiosis. We also analyzed yeast chromosome III at the G1 stage of the cell cycle. We found that chromatin is highly flexible throughout. Furthermore, functionally distinct AT- and GC-rich domains were found to exhibit different conformations, and a population-average 3D model of chromosome III could be determined. Chromosome III emerges as a contorted ring.

  11. XYY chromosome anomaly and schizophrenia.

    PubMed

    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.

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

    PubMed

    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. Mammalian chromosomes contain cis-acting elements that control replication timing, mitotic condensation and stability of entire chromosomes

    PubMed Central

    Thayer, Mathew J.

    2012-01-01

    Recent studies indicate that mammalian chromosomes contain discrete cis-acting loci that control replication timing, mitotic condensation and stability of entire chromosomes. Disruption of the large non-coding RNA gene ASAR6 results in late replication, an under-condensed appearance during mitosis, and structural instability of human chromosome 6. Similarly, disruption of the mouse Xist gene in adult somatic cells results in a late replication and instability phenotype on the X chromosome. ASAR6 shares many characteristics with Xist, including random mono-allelic expression and asynchronous replication timing. Additional ‘chromosome engineering’ studies indicate that certain chromosome rearrangements affecting many different chromosomes display this abnormal replication and instability phenotype. These observations suggest that all mammalian chromosomes contain ‘inactivation/stability centers’ that control proper replication, condensation and stability of individual chromosomes. Therefore, mammalian chromosomes contain four types of cis-acting elements, origins, telomeres centromeres, and ‘inactivation/stability centers’, all functioning to ensure proper replication, condensation, segregation and stability of individual chromosomes. PMID:22706734

  14. Mammalian chromosomes contain cis-acting elements that control replication timing, mitotic condensation, and stability of entire chromosomes.

    PubMed

    Thayer, Mathew J

    2012-09-01

    Recent studies indicate that mammalian chromosomes contain discrete cis-acting loci that control replication timing, mitotic condensation, and stability of entire chromosomes. Disruption of the large non-coding RNA gene ASAR6 results in late replication, an under-condensed appearance during mitosis, and structural instability of human chromosome 6. Similarly, disruption of the mouse Xist gene in adult somatic cells results in a late replication and instability phenotype on the X chromosome. ASAR6 shares many characteristics with Xist, including random mono-allelic expression and asynchronous replication timing. Additional "chromosome engineering" studies indicate that certain chromosome rearrangements affecting many different chromosomes display this abnormal replication and instability phenotype. These observations suggest that all mammalian chromosomes contain "inactivation/stability centers" that control proper replication, condensation, and stability of individual chromosomes. Therefore, mammalian chromosomes contain four types of cis-acting elements, origins, telomeres, centromeres, and "inactivation/stability centers", all functioning to ensure proper replication, condensation, segregation, and stability of individual chromosomes.

  15. Chromosome segregation and aneuploidy. I

    SciTech Connect

    Vig, B.K.

    1993-12-31

    Of all genetic afflictions of man, aneuploidy ranks as the most prevalent. Among liveborn babies aneuploidy exist to the extent of about 0.3%, to about 0.5% among stillborns and a dramatic 25% among miscarriages. The burden is too heavy to be taken lightly. Whereas cytogeneticists are capable of tracing the origin of the extra or missing chromosome to the contributing parent, it is not certain what factors are responsible for this {open_quote}epidemic{close_quote} affecting the human genome. The matter is complicated by the observation that, to the best of our knowledge, all chromosomes do not malsegregate with equal frequency. Chromosome number 16, for example, is the most prevalent among abortuses - one-third of all aneuploid miscarriages are due to trisomy 16 - yet it never appears in aneuploid constitution among the liveborn. Some chromsomes, number 1, for example, appear only rarely, if at all. In the latter case painstaking efforts have to be made to karyotype very early stages of embryonic development, as early as the 8-cell stage. Even though no convincing data are yet available, it is conceivable that the product of most aneuploid zygotes is lost before implantation.

  16. Cooling arrangement for a superconducting coil

    DOEpatents

    Herd, Kenneth Gordon; Laskaris, Evangelos Trifon

    1998-06-30

    A superconducting device, such as a superconducting rotor for a generator or motor. A vacuum enclosure has an interior wall surrounding a cavity containing a vacuum. A superconductive coil is placed in the cavity. A generally-annularly-arranged, thermally-conductive sheet has an inward-facing surface contacting generally the entire outward-facing surface of the superconductive coil. A generally-annularly-arranged coolant tube contains a cryogenic fluid and contacts a generally-circumferential portion of the outward-facing surface of the sheet. A generally-annularly-arranged, thermally-insulative coil overwrap generally circumferentially surrounds the sheet. The coolant tube and the inward-facing surface of the coil overwrap together contact generally the entire outward-facing surface of the sheet.

  17. Cooling arrangement for a superconducting coil

    DOEpatents

    Herd, K.G.; Laskaris, E.T.

    1998-06-30

    A superconducting device is disclosed, such as a superconducting rotor for a generator or motor. A vacuum enclosure has an interior wall surrounding a cavity containing a vacuum. A superconductive coil is placed in the cavity. A generally-annularly-arranged, thermally-conductive sheet has an inward-facing surface contacting generally the entire outward-facing surface of the superconductive coil. A generally-annularly-arranged coolant tube contains a cryogenic fluid and contacts a generally-circumferential portion of the outward-facing surface of the sheet. A generally-annularly-arranged, thermally-insulative coil overwrap generally circumferentially surrounds the sheet. The coolant tube and the inward-facing surface of the coil overwrap together contact generally the entire outward-facing surface of the sheet. 3 figs.

  18. Human chromosome 22.

    PubMed Central

    Kaplan, J C; Aurias, A; Julier, C; Prieur, M; Szajnert, M F

    1987-01-01

    The acrocentric chromosome 22, one of the shortest human chromosomes, carries about 52 000 kb of DNA. The short arm is made up essentially of heterochromatin and, as in other acrocentric chromosomes, it contains ribosomal RNA genes. Ten identified genes have been assigned to the long arm, of which four have already been cloned and documented (the cluster of lambda immunoglobulin genes, myoglobin, the proto-oncogene c-sis, bcr). In addition, about 10 anonymous DNA segments have been cloned from chromosome 22 specific DNA libraries. About a dozen diseases, including at least four different malignancies, are related to an inherited or acquired pathology of chromosome 22. They have been characterised at the phenotypic or chromosome level or both. In chronic myelogenous leukaemia, with the Ph1 chromosome, and Burkitt's lymphoma, with the t(8;22) variant translocation, the molecular pathology is being studied at the DNA level, bridging for the first time the gap between cytogenetics and molecular genetics. PMID:3550088

  19. Sequential cloning of chromosomes

    DOEpatents

    Lacks, Sanford 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.

  20. Sequential cloning of chromosomes

    DOEpatents

    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.

  1. Recombination and chromosome segregation.

    PubMed Central

    Sherratt, David J; Søballe, Britta; Barre, François-Xavier; Filipe, Sergio; Lau, Ivy; Massey, Thomas; Yates, James

    2004-01-01

    The duplication of DNA and faithful segregation of newly replicated chromosomes at cell division is frequently dependent on recombinational processes. The rebuilding of broken or stalled replication forks is universally dependent on homologous recombination proteins. In bacteria with circular chromosomes, crossing over by homologous recombination can generate dimeric chromosomes, which cannot be segregated to daughter cells unless they are converted to monomers before cell division by the conserved Xer site-specific recombination system. Dimer resolution also requires FtsK, a division septum-located protein, which coordinates chromosome segregation with cell division, and uses the energy of ATP hydrolysis to activate the dimer resolution reaction. FtsK can also translocate DNA, facilitate synapsis of sister chromosomes and minimize entanglement and catenation of newly replicated sister chromosomes. The visualization of the replication/recombination-associated proteins, RecQ and RarA, and specific genes within living Escherichia coli cells, reveals further aspects of the processes that link replication with recombination, chromosome segregation and cell division, and provides new insight into how these may be coordinated. PMID:15065657

  2. Thermal energy recycling fuel cell arrangement

    DOEpatents

    Hanrahan, Paul R.

    2017-04-11

    An example fuel cell arrangement includes a fuel cell stack configured to receive a supply fluid and to provide an exhaust fluid that has more thermal energy than the supply fluid. The arrangement also includes an ejector and a heat exchanger. The ejector is configured to direct at least some of the exhaust fluid into the supply fluid. The heat exchanger is configured to increase thermal energy in the supply fluid using at least some of the exhaust fluid that was not directed into the supply fluid.

  3. Cooling arrangement for a gas turbine component

    DOEpatents

    Lee, Ching-Pang; Heneveld, Benjamin E

    2015-02-10

    A cooling arrangement (82) for a gas turbine engine component, the cooling arrangement (82) having a plurality of rows (92, 94, 96) of airfoils (98), wherein adjacent airfoils (98) within a row (92, 94, 96) define segments (110, 130, 140) of cooling channels (90), and wherein outlets (114, 134) of the segments (110, 130) in one row (92, 94) align aerodynamically with inlets (132, 142) of segments (130, 140) in an adjacent row (94, 96) to define continuous cooling channels (90) with non continuous walls (116, 120), each cooling channel (90) comprising a serpentine shape.

  4. Chromosome architecture is a key element of bacterial cellular organization.

    PubMed

    Ptacin, Jerod L; Shapiro, Lucy

    2013-01-01

    The bacterial chromosome encodes information at multiple levels. Beyond direct protein coding, genomes encode regulatory information required to orchestrate the proper timing and levels of gene expression and protein synthesis, and contain binding sites and regulatory sequences to co-ordinate the activities of proteins involved in chromosome repair and maintenance. In addition, it is becoming increasingly clear that yet another level of information is encoded by the bacterial chromosome - the three-dimensional packaging of the chromosomal DNA molecule itself and its positioning relative to the cell. This vast structural blueprint of specific positional information is manifested in various ways, directing chromosome compaction, accessibility, attachment to the cell envelope, supercoiling, and general architecture and arrangement of the chromosome relative to the cell body. Recent studies have begun to identify and characterize novel systems that utilize the three-dimensional spatial information encoded by chromosomal architecture to co-ordinate and direct fundamental cellular processes within the cytoplasm, providing large-scale order within the complex clutter of the cytoplasmic compartment. © 2012 Blackwell Publishing Ltd.

  5. Engineering the Drosophila Genome: Chromosome Rearrangements by Design

    PubMed Central

    Golic, K. G.; Golic, M. M.

    1996-01-01

    We show that site-specific recombination can be used to engineer chromosome rearrangements in Drosophila melanogaster. The FLP site-specific recombinase acts on chromosomal target sites located within specially constructed P elements to provide an easy screen for the recovery of rearrangements with breakpoints that can be chosen in advance. Paracentric and pericentric inversions are easily recovered when two elements lie in the same chromosome in opposite orientation. These inversions are readily reversible. Duplications and deficiencies can be recovered by recombination between two elements that lie in the same orientation on the same chromosome or on homologues. We observe that the frequency of recombination between FRTs at ectopic locations decreases as the distance that separates those FRTs increases. We also describe methods to determine the absolute orientation of these P elements within the chromosome. The ability to produce chromosome rearrangements precisely between preselected sites provides a powerful new tool for investigations into the relationships between chromosome arrangement, structure, and function. PMID:8978056

  6. Chromosomal variants in klinefelter syndrome.

    PubMed

    Frühmesser, A; Kotzot, D

    2011-01-01

    Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small testes, absent spermatogenesis, normal to moderately reduced Leydig cell function, increased secretion of follicle-stimulating hormone, androgen deficiency, and normal to slightly decreased verbal intelligence. Apart from that, amongst others, osteoporosis, varicose veins, thromboembolic disease, or diabetes mellitus are observed. Some of the typical features can be very weakly pronounced so that the affected men often receive the diagnosis only at the adulthood by their infertility. With a frequency of 4%, KS is described to be the most common genetic reason for male infertility. The most widespread karyotype in affected patients is 47,XXY. Apart from that, various other karyotypes have been described, including 46,XX in males, 47,XXY in females, 47,XX,der(Y), 47,X,der(X),Y, or other numeric sex chromosome abnormalities (48,XXXY, 48,XXYY, and 49,XXXXY). The focus of this review was to abstract the different phenotypes, which come about by the various karyotypes and to compare them to those with a 'normal' KS karyotype. For that the patients have been divided into 6 different groups: Klinefelter patients with an additional isochromosome Xq, with additional rearrangements on 1 of the 2 X chromosomes or accordingly on the Y chromosome, as well as XX males and true hermaphrodites, 47,XXY females and Klinefelter patients with other numeric sex chromosome abnormalities. In the latter, an almost linear increase in height and developmental delay was observed. Men with an additional isochromosome Xq show infertility and other minor features of 'normal' KS but not an increased height. Aside from the infertility, in male patients with other der(X) as well as der(Y) rearrangements and in XXY women no specific phenotype

  7. Chromosome Banding in Amphibia. XXXII. The Genus Xenopus (Anura, Pipidae).

    PubMed

    Schmid, Michael; Steinlein, Claus

    2015-01-01

    Mitotic chromosomes of 16 species of the frog genus Xenopus were prepared from kidney and lung cell cultures. In the chromosomes of 7 species, high-resolution replication banding patterns could be induced by treating the cultures with 5-bromodeoxyuridine (BrdU) and deoxythymidine (dT) in succession, and in 6 of these species the BrdU/dT-banded chromosomes could be arranged into karyotypes. In the 3 species of the clade with 2n = 20 and 4n = 40 chromosomes (X. tropicalis, X. epitropicalis, X. new tetraploid 1), as well as in the 3 species with 4n = 36 chromosomes (X. laevis, X. borealis, X. muelleri), the BrdU/dT-banded karyotypes show a high degree of homoeology, though differences were detected between these groups. Translocations, inversions, insertions or sex-specific replication bands were not observed. Minor replication asynchronies found between chromosomes probably involve heterochromatic regions. BrdU/dT replication banding of Xenopus chromosomes provides the landmarks necessary for the exact physical mapping of genes and repetitive sequences. FISH with an X. laevis 5S rDNA probe detected multiple hybridization sites at or near the long-arm telomeric regions in most chromosomes of X. laevis and X. borealis, whereas in X. muelleri, the 5S rDNA sequences are located exclusively at the long-arm telomeres of a single chromosome pair. Staining with the AT base pair-specific fluorochrome quinacrine mustard revealed brightly fluorescing heterochromatic regions in the majority of X. borealis chromosomes which are absent in other Xenopus species.

  8. Sequential cloning of chromosomes

    SciTech Connect

    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.

  9. LPT. EBOR (TAN646). Reactor vault and pool arrangement. Stepped arrangement ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    LPT. EBOR (TAN-646). Reactor vault and pool arrangement. Stepped arrangement of shielding blocks. Floor plan, elevation of reactor, and details. Kaiser engineers EBOR/GA-646-P-102. Date: May 1963. INEEL index code no. 037-0646-00-486-119116 - Idaho National Engineering Laboratory, Test Area North, Scoville, Butte County, ID

  10. The Relationship between Women's Working Arrangements and Their Child Care Arrangements.

    ERIC Educational Resources Information Center

    VandenHeuvel, Audrey

    1996-01-01

    An Australian survey examined the child care and working arrangements (part time, shift work, overtime) of 2,890 mothers. Differences in use of formal child care or unmet child care needs depended on children's ages and full-time/overtime status. Those working in nontraditional arrangements may be more likely to use informal child care. (SK)

  11. Chromosome Segregation Mechanisms

    PubMed Central

    Nicklas, R. Bruce

    1974-01-01

    Most aspects of chromosome distribution to the daughter cells in meiosis and mitosis are now understood, at the cellular level. The most striking evidence that the proposed explanation is valid is that it correctly predicts the outcome of experiments on living cells in which the experimenter (1) can determine the distribution of any chosen chromosome to a chosen daughter cell, (2) can induce a mal-orientation, and (3) can stabilize a mal-orientation, causing non-disjunction of a chosen bivalent. Recent reviews of chromosome distribution mechanisms are also considered, in an attempt to clarify the remaining unsolved problems. PMID:4442702

  12. Quantified effects of chromosome-nuclear envelope attachments on 3D organization of chromosomes.

    PubMed

    Kinney, Nicholas Allen; Onufriev, Alexey V; Sharakhov, Igor V

    2015-01-01

    We use a combined experimental and computational approach to study the effects of chromosome-nuclear envelope (Chr-NE) attachments on the 3D genome organization of Drosophila melanogaster (fruit fly) salivary gland nuclei. We consider 3 distinct models: a Null model - without specific Chr-NE attachments, a 15-attachment model - with 15 previously known Chr-NE attachments, and a 48-attachment model - with 15 original and 33 recently identified Chr-NE attachments. The radial densities of chromosomes in the models are compared to the densities observed in 100 experimental images of optically sectioned salivary gland nuclei forming "z-stacks." Most of the experimental z-stacks support the Chr-NE 48-attachment model suggesting that as many as 48 chromosome loci with appreciable affinity for the NE are necessary to reproduce the experimentally observed distribution of chromosome density in fruit fly nuclei. Next, we investigate if and how the presence and the number of Chr-NE attachments affect several key characteristics of 3D genome organization: chromosome territories and gene-gene contacts. This analysis leads to novel insight about the possible role of Chr-NE attachments in regulating the genome architecture. Specifically, we find that model nuclei with more numerous Chr-NE attachments form more distinct chromosome territories and their chromosomes intertwine less frequently. Intra-chromosome and intra-arm contacts are more common in model nuclei with Chr-NE attachments compared to the Null model (no specific attachments), while inter-chromosome and inter-arm contacts are less common in nuclei with Chr-NE attachments. We demonstrate that Chr-NE attachments increase the specificity of long-range inter-chromosome and inter-arm contacts. The predicted effects of Chr-NE attachments are rationalized by intuitive volume vs. surface accessibility arguments.

  13. Quantified effects of chromosome-nuclear envelope attachments on 3D organization of chromosomes

    PubMed Central

    Kinney, Nicholas Allen; Onufriev, Alexey V; Sharakhov, Igor V

    2015-01-01

    We use a combined experimental and computational approach to study the effects of chromosome-nuclear envelope (Chr-NE) attachments on the 3D genome organization of Drosophila melanogaster (fruit fly) salivary gland nuclei. We consider 3 distinct models: a Null model – without specific Chr-NE attachments, a 15-attachment model – with 15 previously known Chr-NE attachments, and a 48-attachment model – with 15 original and 33 recently identified Chr-NE attachments. The radial densities of chromosomes in the models are compared to the densities observed in 100 experimental images of optically sectioned salivary gland nuclei forming “z-stacks.” Most of the experimental z-stacks support the Chr-NE 48-attachment model suggesting that as many as 48 chromosome loci with appreciable affinity for the NE are necessary to reproduce the experimentally observed distribution of chromosome density in fruit fly nuclei. Next, we investigate if and how the presence and the number of Chr-NE attachments affect several key characteristics of 3D genome organization: chromosome territories and gene-gene contacts. This analysis leads to novel insight about the possible role of Chr-NE attachments in regulating the genome architecture. Specifically, we find that model nuclei with more numerous Chr-NE attachments form more distinct chromosome territories and their chromosomes intertwine less frequently. Intra-chromosome and intra-arm contacts are more common in model nuclei with Chr-NE attachments compared to the Null model (no specific attachments), while inter-chromosome and inter-arm contacts are less common in nuclei with Chr-NE attachments. We demonstrate that Chr-NE attachments increase the specificity of long-range inter-chromosome and inter-arm contacts. The predicted effects of Chr-NE attachments are rationalized by intuitive volume vs. surface accessibility arguments. PMID:26068134

  14. Cytogenetic characterization of cat eye syndrome marker chromosome.

    PubMed

    Wenger, S L; Surti, U; Nwokoro, N A; Steele, M W

    1994-01-01

    Cat eye syndrome is associated with a partial tetrasomy 22q and can be inherited. The authors have evaluated the marker chromosome in a proband and his mother by cytogenetic banding techniques to verify the dicentric chromosomal rearrangement and by fluorescence in situ hybridization to confirm the involvement of 22. The mother also had an affected offspring with an unrelated aneuploidy, trisomy 21.

  15. Fluorescence In Situ Hybridization and Optical Mapping to Correct Scaffold Arrangement in the Tomato Genome

    PubMed Central

    Shearer, Lindsay A.; Anderson, Lorinda K.; de Jong, Hans; Smit, Sandra; Goicoechea, José Luis; Roe, Bruce A.; Hua, Axin; Giovannoni, James J.; Stack, Stephen M.

    2014-01-01

    The order and orientation (arrangement) of all 91 sequenced scaffolds in the 12 pseudomolecules of the recently published tomato (Solanum lycopersicum, 2n = 2x = 24) genome sequence were positioned based on marker order in a high-density linkage map. Here, we report the arrangement of these scaffolds determined by two independent physical methods, bacterial artificial chromosome–fluorescence in situ hybridization (BAC-FISH) and optical mapping. By localizing BACs at the ends of scaffolds to spreads of tomato synaptonemal complexes (pachytene chromosomes), we showed that 45 scaffolds, representing one-third of the tomato genome, were arranged differently than predicted by the linkage map. These scaffolds occur mostly in pericentric heterochromatin where 77% of the tomato genome is located and where linkage mapping is less accurate due to reduced crossing over. Although useful for only part of the genome, optical mapping results were in complete agreement with scaffold arrangement by FISH but often disagreed with scaffold arrangement based on the linkage map. The scaffold arrangement based on FISH and optical mapping changes the positions of hundreds of markers in the linkage map, especially in heterochromatin. These results suggest that similar errors exist in pseudomolecules from other large genomes that have been assembled using only linkage maps to predict scaffold arrangement, and these errors can be corrected using FISH and/or optical mapping. Of note, BAC-FISH also permits estimates of the sizes of gaps between scaffolds, and unanchored BACs are often visualized by FISH in gaps between scaffolds and thus represent starting points for filling these gaps. PMID:24879607

  16. Rise, fall and resurrection of chromosome territories: a historical perspective. Part I. The rise of chromosome territories.

    PubMed

    Cremer, Thomas; Cremer, C

    2006-01-01

    It is now generally accepted that chromosomes in the cell nucleus are organized in distinct domains, first called chromosome territories in 1909 by the great cytologist Theodor Boveri. Yet, even today chromosomes have remained enigmatic individuals, whose structures, arrangements and functions in cycling and post-mitotic cells still need to be explored in full detail. Whereas numerous recent reviews describe present evidence for a dynamic architecture of chromosome territories and discuss the potential significance within the functional compartmentalization of the nucleus, a comprehensive historical account of this important concept of nuclear organization was lacking so far. Here, we describe the early rise of chromosome territories within the context of the discovery of chromosomes and their fundamental role in heredity, covering a period from the 1870th to the early 20th century (part I, this volume). In part II (next volume) we review the abandonment of the chromosome territory concept during the 1950th to 1980th and the compelling evidence, which led to its resurrection during the 1970th to 1980th.

  17. Numerical analysis in the effects of blade's arrangement on the torque load characteristics of the three-blade planetary mixer

    NASA Astrophysics Data System (ADS)

    Liang, Jian; He, Ruibo; Zhan, Xiaobin; Li, Xiwen; Shi, Tielin

    2017-08-01

    The three-blade planetary mixer is one of the important solid propellant mixing equipment, the layout of blades will affect the blades' torque load and the power consumption. In this paper, the effects of the eccentric distance (Es=0˜16 mm), the solid blade form (two paddles, and four paddlers), and the blade arrangement (linear arrangement, triangle arrangement) on the blades' torque load are investigated during the mixer stirring the solid propellant process.

  18. Chromosome and cell wall segregation in Streptococcus faecium ATCC 9790

    SciTech Connect

    Higgins, M.L.; Glaser, D.; Dicker, D.T.; Zito, E.T.

    1989-01-01

    Segregation was studied by measuring the positions of autoradiographic grain clusters in chains formed from single cells containing on average less than one radiolabeled chromosome strand. The degree to which chromosomal and cell wall material cosegregated was quantified by using the methods of S. Cooper and M. Weinberger, dividing the number of chains labeled at the middle. This analysis indicated that in contrast to chromosomal segregation in Escherichia coli and, in some studies, to that in gram-positive rods, chromosomal segregation in Streptococcus faecium was slightly nonrandom and did not vary with growth rate. Results were not significantly affected by strand exchange. In contrast, labeled cell wall segregated predominantly nonrandomly.

  19. Understanding managed care risk sharing arrangements.

    PubMed

    Leigh, J R

    1995-01-01

    A risk sharing agreement between a managed care organization and an employer can be used by employers to either guarantee a managed care plan's short-term success or mitigate its failure. Under such arrangements, the managed care organization financially shares the employer's risk of unfavorable claims experience.

  20. Living Arrangements: A Closer Look at Families.

    ERIC Educational Resources Information Center

    University of South Florida, Tampa. Louis de la Parte Florida Mental Health Inst.

    This Kids Count pamphlet provides information on the living arrangements of Florida's children, focusing on family types. Drawing on information from the 1997 National Survey of America's Families, the Current Population Survey, and the National Center for Health Statistics, the pamphlet presents information on changes in America's families,…

  1. 46 CFR 153.332 - Hoisting arrangement.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 46 Shipping 5 2010-10-01 2010-10-01 false Hoisting arrangement. 153.332 Section 153.332 Shipping COAST GUARD, DEPARTMENT OF HOMELAND SECURITY (CONTINUED) CERTAIN BULK DANGEROUS CARGOES SHIPS CARRYING BULK LIQUID, LIQUEFIED GAS, OR COMPRESSED GAS HAZARDOUS MATERIALS Design and Equipment Cargo Pumprooms...

  2. 77 FR 35366 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-13

    ... the United States of America and the Government of Japan Concerning Peaceful Uses of Nuclear Energy... Concerning Peaceful Uses of Nuclear Energy. DATES: This subsequent arrangement will take effect no sooner... International Security, National Nuclear Security Administration, Department of Energy. Telephone:...

  3. 75 FR 62121 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-07

    ... Uses of Nuclear Energy Between the Government of the United States and the European Atomic Energy... Peaceful Uses of Nuclear Energy. This subsequent arrangement concerns the retransfer of 573 g of U.S... Studsvik Nuclear AB, Nyk ping, Sweden, to the Japan Atomic Energy Agency (JAEA), Tokai-Mura, Japan....

  4. 78 FR 40131 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-07-03

    ... Nuclear Energy and the Agreement Between the Government of the United States of America and Australia Concerning Peaceful Uses of Nuclear Energy. DATES: This subsequent arrangement will take effect no sooner... International Security, National Nuclear Security Administration, Department of Energy. Telephone:...

  5. 78 FR 52170 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-22

    ... Concerning Civil Uses of Nuclear Energy Between the Government of the United States of America and the... Government of Japan Concerning Peaceful Uses of Nuclear Energy. DATES: This subsequent arrangement will take... Nonproliferation and International Security, National Nuclear Security Administration, Department of...

  6. 76 FR 17406 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-29

    ... Nuclear Energy Between the European Atomic Energy Community (EURATOM) and the United States of America and... Government of Norway Concerning Peaceful Uses of Nuclear Energy. DATES: This subsequent arrangement will take... Nonproliferation and International Security, National Nuclear Security Administration, Department of...

  7. 76 FR 37343 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-27

    ... Nuclear Security Administration, Department of Energy. ACTION: Proposed subsequent arrangement. SUMMARY... Cooperation Concerning Civil Uses of Nuclear Energy Between the Government of the United States of America and the Government of Canada and the Agreement for Cooperation in the Peaceful Uses of Nuclear...

  8. 75 FR 81593 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-28

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY... of Energy. ACTION: Proposed subsequent arrangement. SUMMARY: Pursuant to Article VIII.C of the Agreement for Cooperation Concerning Civil Uses of Atomic Energy, signed April 4, 1972, as amended,...

  9. Metacognitive Scaffolding in an Innovative Learning Arrangement

    ERIC Educational Resources Information Center

    Molenaar, Inge; van Boxtel, Carla A. M.; Sleegers, Peter J. C.

    2011-01-01

    This study examined the effects of metacognitive scaffolds on learning outcomes of collaborating students in an innovative learning arrangement. The triads were supported by computerized scaffolds, which were dynamically integrated into the learning process and took a structuring or problematizing form. In an experimental design the two…

  10. 21 CFR 26.64 - Transitional arrangements.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 1 2012-04-01 2012-04-01 false Transitional arrangements. 26.64 Section 26.64 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL MUTUAL RECOGNITION OF PHARMACEUTICAL GOOD MANUFACTURING PRACTICE REPORTS, MEDICAL DEVICE QUALITY SYSTEM AUDIT REPORTS, AND CERTAIN MEDICAL DEVICE...

  11. 21 CFR 26.64 - Transitional arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 1 2014-04-01 2014-04-01 false Transitional arrangements. 26.64 Section 26.64 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL MUTUAL RECOGNITION OF PHARMACEUTICAL GOOD MANUFACTURING PRACTICE REPORTS, MEDICAL DEVICE QUALITY SYSTEM AUDIT REPORTS, AND CERTAIN MEDICAL DEVICE...

  12. 21 CFR 26.64 - Transitional arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 1 2011-04-01 2011-04-01 false Transitional arrangements. 26.64 Section 26.64 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL MUTUAL RECOGNITION OF PHARMACEUTICAL GOOD MANUFACTURING PRACTICE REPORTS, MEDICAL DEVICE QUALITY SYSTEM AUDIT REPORTS, AND CERTAIN MEDICAL DEVICE...

  13. 21 CFR 26.64 - Transitional arrangements.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 1 2013-04-01 2013-04-01 false Transitional arrangements. 26.64 Section 26.64 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL MUTUAL RECOGNITION OF PHARMACEUTICAL GOOD MANUFACTURING PRACTICE REPORTS, MEDICAL DEVICE QUALITY SYSTEM AUDIT REPORTS, AND CERTAIN MEDICAL DEVICE...

  14. 21 CFR 26.64 - Transitional arrangements.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 1 2010-04-01 2010-04-01 false Transitional arrangements. 26.64 Section 26.64 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES GENERAL MUTUAL RECOGNITION OF PHARMACEUTICAL GOOD MANUFACTURING PRACTICE REPORTS, MEDICAL DEVICE QUALITY SYSTEM AUDIT REPORTS, AND CERTAIN MEDICAL DEVICE...

  15. 77 FR 53876 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-09-04

    ... Agreement for Cooperation in the Peaceful Uses of Nuclear Energy Between the United States of America and... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY... of Energy. ACTION: Proposed subsequent arrangement. SUMMARY: This notice is being issued under...

  16. 78 FR 40132 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-07-03

    ... Agreement for Cooperation in the Peaceful Uses of Nuclear Energy Between the United States of America and... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY... of Energy. ACTION: Proposed subsequent arrangement. SUMMARY: This notice is being issued under...

  17. Diagram of Liquid Rocket Systems General Arrangement

    NASA Image and Video Library

    1964-05-21

    S64-05966 (1964) --- Diagram shows the general arrangement of the liquid rocket systems on the Gemini spacecraft are shown. The locations of the 25-pound, 85-pound and 100-pound thrusters of the orbital attitude and maneuver system and the 25-pound thrusters of the re-entry control system are shown.

  18. 75 FR 4545 - Proposed Subsequent Arrangement

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-28

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF ENERGY... Energy. ACTION: Subsequent arrangement. SUMMARY: This notice has been issued under the authority of Section 131 of the Atomic Energy Act of 1954, as amended (42 U.S.C. 2160). The Department is...

  19. 15 CFR 743.1 - Wassenaar Arrangement.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... exports of certain commodities, software and technology controlled under the Wassenaar Arrangement. Such...). Note that exports of technology and source code under License Exception TSR to foreign nationals... 2B001.b.2) of the Commerce Control List (CCL). Reports for 2E001, are for “technology” according to the...

  20. 15 CFR 743.1 - Wassenaar Arrangement.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... exports of certain commodities, software and technology controlled under the Wassenaar Arrangement. Such...). Note that exports of technology and source code under License Exception TSR to foreign nationals... 2B001.b.2) of the Commerce Control List (CCL). Reports for 2E001, are for “technology” according to the...

  1. 48 CFR 225.7306 - Offset arrangements.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... 48 Federal Acquisition Regulations System 3 2013-10-01 2013-10-01 false Offset arrangements. 225.7306 Section 225.7306 Federal Acquisition Regulations System DEFENSE ACQUISITION REGULATIONS SYSTEM, DEPARTMENT OF DEFENSE SOCIOECONOMIC PROGRAMS FOREIGN ACQUISITION Acquisitions for Foreign Military Sales 225...

  2. 48 CFR 225.7306 - Offset arrangements.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 48 Federal Acquisition Regulations System 3 2010-10-01 2010-10-01 false Offset arrangements. 225.7306 Section 225.7306 Federal Acquisition Regulations System DEFENSE ACQUISITION REGULATIONS SYSTEM, DEPARTMENT OF DEFENSE SOCIOECONOMIC PROGRAMS FOREIGN ACQUISITION Acquisitions for Foreign Military Sales 225...

  3. 48 CFR 225.7306 - Offset arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 48 Federal Acquisition Regulations System 3 2014-10-01 2014-10-01 false Offset arrangements. 225.7306 Section 225.7306 Federal Acquisition Regulations System DEFENSE ACQUISITION REGULATIONS SYSTEM, DEPARTMENT OF DEFENSE SOCIOECONOMIC PROGRAMS FOREIGN ACQUISITION Acquisitions for Foreign Military Sales 225...

  4. 48 CFR 225.7306 - Offset arrangements.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 48 Federal Acquisition Regulations System 3 2012-10-01 2012-10-01 false Offset arrangements. 225.7306 Section 225.7306 Federal Acquisition Regulations System DEFENSE ACQUISITION REGULATIONS SYSTEM, DEPARTMENT OF DEFENSE SOCIOECONOMIC PROGRAMS FOREIGN ACQUISITION Acquisitions for Foreign Military Sales 225...

  5. 48 CFR 225.7306 - Offset arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 48 Federal Acquisition Regulations System 3 2011-10-01 2011-10-01 false Offset arrangements. 225.7306 Section 225.7306 Federal Acquisition Regulations System DEFENSE ACQUISITION REGULATIONS SYSTEM, DEPARTMENT OF DEFENSE SOCIOECONOMIC PROGRAMS FOREIGN ACQUISITION Acquisitions for Foreign Military Sales 225...

  6. Arrangement of Renal Arteries in Guinea Pig.

    PubMed

    Mazensky, David; Flesarova, Slavka

    2017-03-01

    The aim of this study was to describe origin, localization, and variations of renal arteries in guinea pig. The study was carried out on 26 adult guinea pigs. We prepared corrosion casts of the guinea pig arterial system. Batson's corrosion casting kit no. 17 was used as the casting medium. In 57.7% of specimens, a. renalis dextra was present as a single vessel with different level of its origin from aorta abdominalis. In 38.5% of specimens, two aa. renales dextrae were present with variable origin and arrangement. The presence of three aa. renales dextrae we found in one specimen. In 76.9% of specimens, a. renalis sinistra was present as a single vessel with different level of its origin from aorta abdominalis and variable arrangement. In 23.1% of specimens, we found two aa. renales sinistrae with variable origin and arrangement. The anatomical knowledge of the renal arteries, and its variations are of extreme importance for the surgeon that approaches the retroperitoneal region in several experiments, results of which are extrapolated in human. This is the first work dealing with the description of renal arteries arrangement in guinea pig. Anat Rec, 300:556-559, 2017. © 2016 Wiley Periodicals, Inc.

  7. Arranging a Library to Support Adolescent Development

    ERIC Educational Resources Information Center

    Cesari, Lindsay

    2014-01-01

    When designing a school library space and deciding how to arrange resources, it is important to consider multiple components of adolescent development, including social, emotional, and behavioral aspects. Acknowledging these developmental facets and their importance can provide additional justification for some of the more controversial aspects of…

  8. School Principals. Collaborative Arrangements. Linking Agents.

    ERIC Educational Resources Information Center

    Hood, Paul, Ed.

    1983-01-01

    This report summarizes the findings of three studies conducted by the Far West Laboratory for Educational Research and Development in San Francisco, California. The first comprised five case studies of school principals. The second synthesized studies on collaborative arrangements for school improvement, and the third is a review of five studies…

  9. 15 CFR 743.1 - Wassenaar Arrangement.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... OF INDUSTRY AND SECURITY, DEPARTMENT OF COMMERCE EXPORT ADMINISTRATION REGULATIONS SPECIAL REPORTING... Arrangement. Such reports must be submitted to BIS semiannually in accordance with the provisions of paragraph... must be kept in accordance with part 762 of the EAR. This section does not require reports for...

  10. 15 CFR 784.5 - Subsidiary arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 15 Commerce and Foreign Trade 2 2014-01-01 2014-01-01 false Subsidiary arrangements. 784.5 Section 784.5 Commerce and Foreign Trade Regulations Relating to Commerce and Foreign Trade (Continued) BUREAU OF INDUSTRY AND SECURITY, DEPARTMENT OF COMMERCE ADDITIONAL PROTOCOL REGULATIONS COMPLEMENTARY ACCESS...

  11. Arranging a Library to Support Adolescent Development

    ERIC Educational Resources Information Center

    Cesari, Lindsay

    2014-01-01

    When designing a school library space and deciding how to arrange resources, it is important to consider multiple components of adolescent development, including social, emotional, and behavioral aspects. Acknowledging these developmental facets and their importance can provide additional justification for some of the more controversial aspects of…

  12. Gendered Living Arrangements among Children with Disabilities

    ERIC Educational Resources Information Center

    Cohen, Philip N.; Petrescu-Prahova, Miruna

    2006-01-01

    Using data on disabilities from the 2000 Census, we found a consistent pattern of living arrangements that leaves children (aged 5-15 years) with disabilities living disproportionately with women. Children with disabilities are more likely to live with single parents, and especially their mothers, than are other children. Further, those who do not…

  13. Is your leasing arrangement paying off?

    PubMed

    Bernstein, Curtis

    2006-08-01

    Lease rates for healthcare equipment should not exceed fair market value for comparable leases in the market. Valuators usually analyze lease arrangements under a cost approach and a market approach to determine the fair market value lease rate. Healthcare financial executives need to perform significant research to support the lease rate.

  14. Employment and Childcare Arrangements among Families.

    ERIC Educational Resources Information Center

    Podmore, Valerie N.

    A study investigated parents' experiences and their views on labor force participation and childcare arrangements. An in-depth interview was conducted with the parent or parents from 60 families with 5-year-old children, selected randomly from 14 schools in the greater Wellington, New Zealand, region. Results included the following: (1) playgroups…

  15. 47 CFR 36.301 - Section arrangement.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 47 Telecommunication 2 2010-10-01 2010-10-01 false Section arrangement. 36.301 Section 36.301 Telecommunication FEDERAL COMMUNICATIONS COMMISSION (CONTINUED) COMMON CARRIER SERVICES JURISDICTIONAL SEPARATIONS... Billing and Collecting Expense 36.381. Category 3—All other Customer Service Expense 36.382....

  16. Canister arrangement for storing radioactive waste

    DOEpatents

    Lorenzo, D.K.; Van Cleve, J.E. Jr.

    1980-04-23

    The subject invention relates to a canister arrangement for jointly storing high level radioactive chemical waste and metallic waste resulting from the reprocessing of nuclear reactor fuel elements. A cylindrical steel canister is provided with an elongated centrally disposed billet of the metallic waste and the chemical waste in vitreous form is disposed in the annulus surrounding the billet.

  17. Canister arrangement for storing radioactive waste

    DOEpatents

    Lorenzo, Donald K.; Van Cleve, Jr., John E.

    1982-01-01

    The subject invention relates to a canister arrangement for jointly storing high level radioactive chemical waste and metallic waste resulting from the reprocessing of nuclear reactor fuel elements. A cylindrical steel canister is provided with an elongated centrally disposed billet of the metallic waste and the chemical waste in vitreous form is disposed in the annulus surrounding the billet.

  18. The arrangement of fascicles in whole muscle.

    PubMed

    Infantolino, Benjamin W; Neuberger, Thomas; Challis, John H

    2012-07-01

    The architecture of the muscle fascicles, here meaning their lengths and their arrangement relative to one another, has important implications for the force a muscle can produce. Therefore, quantifying this architectural arrangement and understanding the implications of the architecture are important for understanding muscle function in vivo. There were two purposes of this study: (1) to assess, via blunt dissection, the number and the length of all the fascicles comprising the First Dorsal Interosseous (FDI) muscle and (2) to visually identify, via magnetic resonance imaging (MRI), the arrangement of the fascicles comprising the FDI. Simple blunt dissection of all the fascicles comprising four FDI muscles and their subsequent measurement demonstrated that the fascicles comprising the whole muscle were not as long as the muscle belly from which they were extracted. Muscle fascicles are surrounded by connective tissue hence the paths of the fascicles in two whole FDI muscles were identified via MRI by tracking the connective tissue surrounding the fascicles. The fascicles had a spiral pattern along the length of each muscle, within both muscles many of the fascicles were arranged in series with other fascicles. These architectural features of the fascicles of the FDI have important implications for the force-length and force-velocity properties of the whole muscle. Copyright © 2012 Wiley Periodicals, Inc.

  19. Models of chromosome structure.

    PubMed

    Nicodemi, Mario; Pombo, Ana

    2014-06-01

    Understanding the mechanisms that control chromosome folding in the nucleus of eukaryotes and their contribution to gene regulation is a key open issue in molecular biology. Microscopy and chromatin-capture techniques have shown that chromatin has a complex organization, which dynamically changes across organisms and cell types. The need to make sense of such a fascinating complexity has prompted the development of quantitative models from physics, to find the principles of chromosome folding, its origin and function. Here, we concisely review recent advances in chromosome modeling, focusing on a recently proposed framework, the Strings & Binders Switch (SBS) model, which recapitulates key features of chromosome organization in space and time. Copyright © 2014 Elsevier Ltd. All rights reserved.

  20. Chromosome rearrangements, recombination suppression, and limited segregation distortion in hybrids between Yellowstone cutthroat trout (Oncorhynchus clarkii bouvieri) and rainbow trout (O. mykiss)

    USGS Publications Warehouse

    Ostberg, Carl O.; Hauser, Lorenz; Pritchard, Victoria L.; Garza, John C.; Naish, Kerry A.

    2013-01-01

    Chromosome rearrangements suppressed recombination in the hybrids. This result supports several previous findings demonstrating that recombination suppression restricts gene flow between chromosomes that differ by arrangement. Conservation of synteny and map order between the hybrid and rainbow trout maps and minimal segregation distortion in the hybrids suggest rainbow and Yellowstone cutthroat trout genomes freely introgress across chromosomes with similar arrangement. Taken together, these results suggest that rearrangements impede introgression. Recombination suppression across rearrangements could enable large portions of non-recombined chromosomes to persist within admixed populations.

  1. Chromosome doubling method

    DOEpatents

    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.

  2. [Sex chromosomes and meiosis].

    PubMed

    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.

  3. Making a long story short: noncoding RNAs and chromosome change

    PubMed Central

    Brown, J D; Mitchell, S E; O'Neill, R J

    2012-01-01

    As important as the events that influence selection for specific chromosome types in the derivation of novel karyotypes, are the events that initiate the changes in chromosome number and structure between species, and likewise polymorphisms, variants and disease states within species. Although once thought of as transcriptional ‘noise', noncoding RNAs (ncRNAs) are now recognized as important mediators of epigenetic regulation and chromosome stability. Here we highlight recent work that illustrates the influence short and long ncRNAs have as participants in the function and stability of chromosome regions such as centromeres, telomeres, evolutionary breakpoints and fragile sites. We summarize recent evidence that ncRNAs can facilitate chromosome change and present mechanisms by which ncRNAs create DNA breaks. Finally, we present hypotheses on how they may create novel karyotypes and thus affect chromosome evolution. PMID:22072070

  4. 3D organization of synthetic and scrambled chromosomes.

    PubMed

    Mercy, Guillaume; Mozziconacci, Julien; Scolari, Vittore F; Yang, Kun; Zhao, Guanghou; Thierry, Agnès; Luo, Yisha; Mitchell, Leslie A; Shen, Michael; Shen, Yue; Walker, Roy; Zhang, Weimin; Wu, Yi; Xie, Ze-Xiong; Luo, Zhouqing; Cai, Yizhi; Dai, Junbiao; Yang, Huanming; Yuan, Ying-Jin; Boeke, Jef D; Bader, Joel S; Muller, Héloïse; Koszul, Romain

    2017-03-10

    Although the design of the synthetic yeast genome Sc2.0 is highly conservative with respect to gene content, the deletion of several classes of repeated sequences and the introduction of thousands of designer changes may affect genome organization and potentially alter cellular functions. We report here the Hi-C-determined three-dimensional (3D) conformations of Sc2.0 chromosomes. The absence of repeats leads to a smoother contact pattern and more precisely tractable chromosome conformations, and the large-scale genomic organization is globally unaffected by the presence of synthetic chromosome(s). Two exceptions are synIII, which lacks the silent mating-type cassettes, and synXII, specifically when the ribosomal DNA is moved to another chromosome. We also exploit the contact maps to detect rearrangements induced in SCRaMbLE (synthetic chromosome rearrangement and modification by loxP-mediated evolution) strains.

  5. Epilepsy and chromosomal abnormalities

    PubMed Central

    2010-01-01

    Background Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders. Methods Detailed clinical assessment, electrophysiological studies, survey of the literature. Results In some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy. Conclusions A better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques - such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities. PMID:20438626

  6. Effect of arrangement of stick figures on estimates of proportion in risk graphics.

    PubMed

    Ancker, Jessica S; Weber, Elke U; Kukafka, Rita

    2011-01-01

    Health risks are sometimes illustrated with stick figures, with a certain proportion colored to indicate they are affected by the disease. Perception of these graphics may be affected by whether the affected stick figures are scattered randomly throughout the group or arranged in a block. . To assess the effects of stick-figure arrangement on first impressions of estimates of proportion, under a 10-s deadline. . Questionnaire. Participants and Setting. Respondents recruited online (n = 100) or in waiting rooms at an urban hospital (n = 65). Intervention. Participants were asked to estimate the proportion represented in 6 unlabeled graphics, half randomly arranged and half sequentially arranged. Measurements. Estimated proportions. . Although average estimates were fairly good, the variability of estimates was high. Overestimates of random graphics were larger than overestimates of sequential ones, except when the proportion was near 50%; variability was also higher with random graphics. Although the average inaccuracy was modest, it was large enough that more than one quarter of respondents confused 2 graphics depicting proportions that differed by 11 percentage points. Low numeracy and educational level were associated with inaccuracy. Limitations. Participants estimated proportions but did not report perceived risk. . Randomly arranged arrays of stick figures should be used with care because viewers' ability to estimate the proportion in these graphics is so poor that moderate differences between risks may not be visible. In addition, random arrangements may create an initial impression that proportions, especially large ones, are larger than they are.

  7. Effect of Arrangement of Stick Figures on Estimates of Proportion in Risk Graphics

    PubMed Central

    Ancker, Jessica S.; Weber, Elke U.; Kukafka, Rita

    2017-01-01

    Background Health risks are sometimes illustrated with stick figures, with a certain proportion colored to indicate they are affected by the disease. Perception of these graphics may be affected by whether the affected stick figures are scattered randomly throughout the group or arranged in a block. Objective To assess the effects of stick-figure arrangement on first impressions of estimates of proportion, under a 10-s deadline. Design Questionnaire. Participants and Setting Respondents recruited online (n = 100) or in waiting rooms at an urban hospital (n = 65). Intervention Participants were asked to estimate the proportion represented in 6 unlabeled graphics, half randomly arranged and half sequentially arranged. Measurements Estimated proportions. Results Although average estimates were fairly good, the variability of estimates was high. Overestimates of random graphics were larger than overestimates of sequential ones, except when the proportion was near 50%; variability was also higher with random graphics. Although the average inaccuracy was modest, it was large enough that more than one quarter of respondents confused 2 graphics depicting proportions that differed by 11 percentage points. Low numeracy and educational level were associated with inaccuracy. Limitations Participants estimated proportions but did not report perceived risk. Conclusions Randomly arranged arrays of stick figures should be used with care because viewers’ ability to estimate the proportion in these graphics is so poor that moderate differences between risks may not be visible. In addition, random arrangements may create an initial impression that proportions, especially large ones, are larger than they are. PMID:20671209

  8. Visualization of chromosome condensation in plants with large chromosomes.

    PubMed

    Kuznetsova, Maria A; Chaban, Inna A; Sheval, Eugene V

    2017-09-12

    Most data concerning chromosome organization have been acquired from studies of a small number of model organisms, the majority of which are mammals. In plants with large genomes, the chromosomes are significantly larger than the animal chromosomes that have been studied to date, and it is possible that chromosome condensation in such plants was modified during evolution. Here, we analyzed chromosome condensation and decondensation processes in order to find structural mechanisms that allowed for an increase in chromosome size. We found that anaphase and telophase chromosomes of plants with large chromosomes (average 2C DNA content exceeded 0.8 pg per chromosome) contained chromatin-free cavities in their axial regions in contrast to well-characterized animal chromosomes, which have high chromatin density in the axial regions. Similar to animal chromosomes, two intermediates of chromatin folding were visible inside condensing (during prophase) and decondensing (during telophase) chromosomes of Nigella damascena: approximately 150 nm chromonemata and approximately 300 nm fibers. The spatial folding of the latter fibers occurs in a fundamentally different way than in animal chromosomes, which leads to the formation of chromosomes with axial chromatin-free cavities. Different compaction topology, but not the number of compaction levels, allowed for the evolution of increased chromosome size in plants.

  9. Proximity within interphase chromosome contributes to the breakpoint distribution in radiation-induced intrachromosomal exchanges

    NASA Astrophysics Data System (ADS)

    Zhang, Ye; Uhlemeyer, Jimmy; Hada, Megumi; Asaithamby, A.; Chen, David J.; Wu, Honglu

    2014-07-01

    Previously, we reported that breaks involved in chromosome aberrations were clustered in several regions of chromosome 3 in human mammary epithelial cells after exposures to either low- or high-LET radiation. In particular, breaks in certain regions of the chromosome tended to rejoin with each other to form an intrachromosome exchange event. This study tests the hypothesis that proximity within a single chromosome in interphase cell nuclei contributes to the distribution of radiation-induced chromosome breaks. Chromosome 3 in G1 human mammary epithelial cells was hybridized with the multicolor banding in situ hybridization (mBAND) probes that distinguish the chromosome in six differently colored regions, and the location of these regions was measured with a laser confocal microscope. Results of the study indicated that, on a multi-mega base pair scale of the DNA, the arrangement of chromatin was non-random. Both telomere regions tended to be located towards the exterior of the chromosome domain, whereas the centromere region towards the interior. In addition, the interior of the chromosome domain was preferentially occupied by the p-arm of the chromatin, which is consistent with our previous finding of intrachromosome exchanges involving breaks on the p-arm and in the centromere region of chromosome 3. Other factors, such as the fragile sites in the 3p21 band and gene regulation, may also contribute to the breakpoint distribution in radiation-induced chromosome aberrations.

  10. Micromechanics of human mitotic chromosomes

    NASA Astrophysics Data System (ADS)

    Sun, Mingxuan; Kawamura, Ryo; Marko, John F.

    2011-02-01

    Eukaryote cells dramatically reorganize their long chromosomal DNAs to facilitate their physical segregation during mitosis. The internal organization of folded mitotic chromosomes remains a basic mystery of cell biology; its understanding would likely shed light on how chromosomes are separated from one another as well as into chromosome structure between cell divisions. We report biophysical experiments on single mitotic chromosomes from human cells, where we combine micromanipulation, nano-Newton-scale force measurement and biochemical treatments to study chromosome connectivity and topology. Results are in accord with previous experiments on amphibian chromosomes and support the 'chromatin network' model of mitotic chromosome structure. Prospects for studies of chromosome-organizing proteins using siRNA expression knockdowns, as well as for differential studies of chromosomes with and without mutations associated with genetic diseases, are also discussed.

  11. Evolution of linear chromosomes and multipartite genomes in yeast mitochondria

    PubMed Central

    Valach, Matus; Farkas, Zoltan; Fricova, Dominika; Kovac, Jakub; Brejova, Brona; Vinar, Tomas; Pfeiffer, Ilona; Kucsera, Judit; Tomaska, Lubomir; Lang, B. Franz; Nosek, Jozef

    2011-01-01

    Mitochondrial genome diversity in closely related species provides an excellent platform for investigation of chromosome architecture and its evolution by means of comparative genomics. In this study, we determined the complete mitochondrial DNA sequences of eight Candida species and analyzed their molecular architectures. Our survey revealed a puzzling variability of genome architecture, including circular- and linear-mapping and multipartite linear forms. We propose that the arrangement of large inverted repeats identified in these genomes plays a crucial role in alterations of their molecular architectures. In specific arrangements, the inverted repeats appear to function as resolution elements, allowing genome conversion among different topologies, eventually leading to genome fragmentation into multiple linear DNA molecules. We suggest that molecular transactions generating linear mitochondrial DNA molecules with defined telomeric structures may parallel the evolutionary emergence of linear chromosomes and multipartite genomes in general and may provide clues for the origin of telomeres and pathways implicated in their maintenance. PMID:21266473

  12. The B chromosome polymorphism of the grasshopper Eyprepocnemis plorans in North Africa: III. mutation rate of B chromosomes.

    PubMed

    Bakkali, M; Camacho, J P M

    2004-05-01

    B chromosome variation in nine Moroccan populations of the grasshopper Eyprepocnemis plorans was analysed for 3 consecutive years. In addition to B1, which was the predominant B chromosome in all nine populations, we found 15 other B variants, albeit at very low frequency. Eight variants were found in adults caught in the wild, four appeared in adults reared in the laboratory and seven were found in embryo progeny of controlled crosses between a 0B male and a B-carrying female. Some variants were found in more than one kind of material. At least the seven B variants that appeared in embryo progeny of females carrying a different B type arose de novo through mutation of the maternal B chromosome. The mutation rate of B chromosomes was 0.73%, on average, which explains the high variety of morphs and banding patterns found. The most frequent de novo mutations observed in these chromosomes were centromere misdivision with or without chromatid nondisjunction, which generates iso-B-chromosomes or telocentric Bs, respectively, as well as translocations with A and B chromosomes and deletions. But the whole variation observed, including that found in adult individuals, suggests that other mutations such as duplications, inversions and centric fusions do usually affect B chromosomes. Finally, B chromosome mutation rate was remarkably similar in both Moroccan and Spanish populations, which suggests that it might be dependent on B chromosome intrinsic factors.

  13. 14 CFR 23.1361 - Master switch arrangement.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 14 Aeronautics and Space 1 2011-01-01 2011-01-01 false Master switch arrangement. 23.1361 Section... Systems and Equipment § 23.1361 Master switch arrangement. (a) There must be a master switch arrangement... controlled by the switch arrangement. If separate switches are incorporated into the master...

  14. 14 CFR 23.1361 - Master switch arrangement.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false Master switch arrangement. 23.1361 Section... Systems and Equipment § 23.1361 Master switch arrangement. (a) There must be a master switch arrangement... controlled by the switch arrangement. If separate switches are incorporated into the master...

  15. 12 CFR 714.9 - Are indirect leasing arrangements subject to the purchase of eligible obligation limit set forth...

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 12 Banks and Banking 6 2010-01-01 2010-01-01 false Are indirect leasing arrangements subject to... Banks and Banking NATIONAL CREDIT UNION ADMINISTRATION REGULATIONS AFFECTING CREDIT UNIONS LEASING § 714.9 Are indirect leasing arrangements subject to the purchase of eligible obligation limit set...

  16. Philadelphia chromosome duplication as a ring-shaped chromosome.

    PubMed

    Borjas-Gutierrez, Cesar; Gonzalez-Garcia, Juan Ramon

    2016-01-01

    The gain of a second copy of the Philadelphia chromosome is one of the main secondary chromosomal changes related to the clonal evolution of cells with t(9;22) in chronic myelogenous leukemia. This gain causes the acquisition of another copy of the BCR/ABL1 fusion gene. Isochromosomes of the der(22) chromosome or double minute chromosomes are well known to lead an increased copy number of BCR/ABL1 gene. There is no antecedent of Philadelphia chromosome duplication as a ring chromosome. A recent published report contains evidence that strongly suggests that the Philadelphia chromosome was duplicated as a ring chromosome, observation that was overlooked by the authors. The instability inherent to the ring chromosome increases the risk of emergence of clones containing more and more BCR/ABL1 gene copies, which would produce increased fitness for clonal selection, resulting in worsening of the patient's prognosis.

  17. Recovery and Visualization of 3D Structure of Chromosomes from Tomographic Reconstruction Images

    NASA Astrophysics Data System (ADS)

    Babu, Sabarish; Liao, Pao-Chuan; Shin, Min C.; Tsap, Leonid V.

    2006-12-01

    The objectives of this work include automatic recovery and visualization of a 3D chromosome structure from a sequence of 2D tomographic reconstruction images taken through the nucleus of a cell. Structure is very important for biologists as it affects chromosome functions, behavior of the cell, and its state. Analysis of chromosome structure is significant in the detection of diseases, identification of chromosomal abnormalities, study of DNA structural conformation, in-depth study of chromosomal surface morphology, observation of in vivo behavior of the chromosomes over time, and in monitoring environmental gene mutations. The methodology incorporates thresholding based on a histogram analysis with a polyline splitting algorithm, contour extraction via active contours, and detection of the 3D chromosome structure by establishing corresponding regions throughout the slices. Visualization using point cloud meshing generates a 3D surface. The 3D triangular mesh of the chromosomes provides surface detail and allows a user to interactively analyze chromosomes using visualization software.

  18. An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.

    PubMed

    Quintero-Rivera, Fabiola; Deignan, Joshua L; Peredo, Jane; Grody, Wayne W; Crandall, Barbara; Sims, Maureen; Cederbaum, Stephen D

    2010-12-01

    We describe the outcome of two consecutive pregnancies with a clinical presentation of ornithine transcarbamylase (OTC) deficiency (OTCD) without a molecular diagnosis. A 119kb deletion on Xp11.4 including the OTC gene was detected in the mother. The same deletion was identified in the blood spots from deceased male newborns. In patients with a clinical and biochemical presentation of OTCD and negative OTC sequencing, whole genome or targeted chromosomal microarray analysis (CMA) with coverage of the OTC and neighboring genes should be performed as a reflex test.

  19. Mox fuel arrangement for nuclear core

    DOEpatents

    Kantrowitz, Mark L.; Rosenstein, Richard G.

    2001-05-15

    In order to use up a stockpile of weapons-grade plutonium, the plutonium is converted into a mixed oxide (MOX) fuel form wherein it can be disposed in a plurality of different fuel assembly types. Depending on the equilibrium cycle that is required, a predetermined number of one or more of the fuel assembly types are selected and arranged in the core of the reactor in accordance with a selected loading schedule. Each of the fuel assemblies is designed to produce different combustion characteristics whereby the appropriate selection and disposition in the core enables the resulting equilibrium cycle to closely resemble that which is produced using urania fuel. The arrangement of the MOX rods and burnable absorber rods within each of the fuel assemblies, in combination with a selective control of the amount of plutonium which is contained in each of the MOX rods, is used to tailor the combustion. characteristics of the assembly.

  20. MOX fuel arrangement for nuclear core

    DOEpatents

    Kantrowitz, Mark L.; Rosenstein, Richard G.

    1998-01-01

    In order to use up a stockpile of weapons-grade plutonium, the plutonium is converted into a mixed oxide (MOX) fuel form wherein it can be disposed in a plurality of different fuel assembly types. Depending on the equilibrium cycle that is required, a predetermined number of one or more of the fuel assembly types are selected and arranged in the core of the reactor in accordance with a selected loading schedule. Each of the fuel assemblies is designed to produce different combustion characteristics whereby the appropriate selection and disposition in the core enables the resulting equilibrium cycle to closely resemble that which is produced using urania fuel. The arrangement of the MOX rods and burnable absorber rods within each of the fuel assemblies, in combination with a selective control of the amount of plutonium which is contained in each of the MOX rods, is used to tailor the combustion characteristics of the assembly.

  1. MOX fuel arrangement for nuclear core

    DOEpatents

    Kantrowitz, Mark L.; Rosenstein, Richard G.

    2001-07-17

    In order to use up a stockpile of weapons-grade plutonium, the plutonium is converted into a mixed oxide (MOX) fuel form wherein it can be disposed in a plurality of different fuel assembly types. Depending on the equilibrium cycle that is required, a predetermined number of one or more of the fuel assembly types are selected and arranged in the core of the reactor in accordance with a selected loading schedule. Each of the fuel assemblies is designed to produce different combustion characteristics whereby the appropriate selection and disposition in the core enables the resulting equilibrium cycle to closely resemble that which is produced using urania fuel. The arrangement of the MOX rods and burnable absorber rods within each of the fuel assemblies, in combination with a selective control of the amount of plutonium which is contained in each of the MOX rods, is used to tailor the combustion characteristics of the assembly.

  2. MOX fuel arrangement for nuclear core

    DOEpatents

    Kantrowitz, M.L.; Rosenstein, R.G.

    1998-10-13

    In order to use up a stockpile of weapons-grade plutonium, the plutonium is converted into a mixed oxide (MOX) fuel form wherein it can be disposed in a plurality of different fuel assembly types. Depending on the equilibrium cycle that is required, a predetermined number of one or more of the fuel assembly types are selected and arranged in the core of the reactor in accordance with a selected loading schedule. Each of the fuel assemblies is designed to produce different combustion characteristics whereby the appropriate selection and disposition in the core enables the resulting equilibrium cycle to closely resemble that which is produced using urania fuel. The arrangement of the MOX rods and burnable absorber rods within each of the fuel assemblies, in combination with a selective control of the amount of plutonium which is contained in each of the MOX rods, is used to tailor the combustion characteristics of the assembly. 38 figs.

  3. Financial arrangement selection for energy management projects

    NASA Astrophysics Data System (ADS)

    Woodroof, Eric Aubrey

    Scope and method of study. The purpose of this study was to develop a model (E-FUND) to help facility managers select financial arrangements for energy management projects (EMPs). The model was developed with the help of a panel of expert financiers. The panel also helped develop a list of key objectives critical to the decision process. The E-FUND model was tested by a population of facility managers in four case studies. Findings and conclusions. The results may indicate that having a high economic benefit (from an EMP) is not overwhelmingly important, when compared to other qualitative objectives. The results may also indicate that the true lease and performance contract may be the most applicable financial arrangements for EMPs.

  4. Living arrangements after divorce: cohabitation versus remarriage.

    PubMed

    Wineberg, H; Mccarthy, J

    1998-01-01

    "The purpose of this paper is to examine the characteristics of all [U.S.] couple households in which one or both partners were previously married. In this examination, we will consider not only households maintained by married couples...; we will also consider households formed by cohabiting couples. In addition, we will examine the living arrangements of children in these households, with particular attention to whether children are from the current union or a previous union."

  5. Breakpoint structure of the Anopheles gambiae 2Rb chromosomal inversion

    PubMed Central

    2010-01-01

    Background Alternative arrangements of chromosome 2 inversions in Anopheles gambiae are important sources of population structure, and are associated with adaptation to environmental heterogeneity. The forces responsible for their origin and maintenance are incompletely understood. Molecular characterization of inversion breakpoints provides insight into how they arose, and provides the basis for development of molecular karyotyping methods useful in future studies. Methods Sequence comparison of regions near the cytological breakpoints of 2Rb allowed the molecular delineation of breakpoint boundaries. Comparisons were made between the standard 2R+b arrangement in the An. gambiae PEST reference genome and the inverted 2Rb arrangements in the An. gambiae M and S genome assemblies. Sequence differences between alternative 2Rb arrangements were exploited in the design of a PCR diagnostic assay, which was evaluated against the known chromosomal banding pattern of laboratory colonies and field-collected samples from Mali and Cameroon. Results The breakpoints of the 7.55 Mb 2Rb inversion are flanked by extensive runs of the same short (72 bp) tandemly organized sequence, which was likely responsible for chromosomal breakage and rearrangement. Application of the molecular diagnostic assay suggested that 2Rb has a single common origin in An. gambiae and its sibling species, Anopheles arabiensis, and also that the standard arrangement (2R+b) may have arisen twice through breakpoint reuse. The molecular diagnostic was reliable when applied to laboratory colonies, but its accuracy was lower in natural populations. Conclusions The complex repetitive sequence flanking the 2Rb breakpoint region may be prone to structural and sequence-level instability. The 2Rb molecular diagnostic has immediate application in studies based on laboratory colonies, but its usefulness in natural populations awaits development of complementary molecular tools. PMID:20974007

  6. Frequency Arrangement For 700 MHz Band

    NASA Astrophysics Data System (ADS)

    Ancans, G.; Bobrovs, V.; Ivanovs, G.

    2015-02-01

    The 694-790 MHz (700 MHz) band was allocated by the 2012 World Radiocommunication Conference (WRC-12) in ITU Region 1 (Europe included), to the mobile service on a co-primary basis with other services to which this band was allocated on the primary basis and identified for the International Mobile Telecommunications (IMT). At the same time, the countries of Region 1 will be able also to continue using these frequencies for their broadcasting services if necessary. This allocation will be effective immediately after 2015 World Radiocommunication Conference (WRC-15). In order to make the best possible use of this frequency band for mobile service, a worldwide harmonized frequency arrangement is to be prepared to allow for large economies of scale and international roaming as well as utilizing the available spectrum in the best possible way, minimizing possible interference between services, facilitating deployment and cross-border coordination. The authors analyze different possible frequency arrangements and conclude on the frequency arrangement most suitable for Europe.

  7. Involvement of condensin-directed gene associations in the organization and regulation of chromosome territories during the cell cycle

    PubMed Central

    Iwasaki, Osamu; Corcoran, Christopher J.; Noma, Ken-ichi

    2016-01-01

    Chromosomes are not randomly disposed in the nucleus but instead occupy discrete sub-nuclear domains, referred to as chromosome territories. The molecular mechanisms that underlie the formation of chromosome territories and how they are regulated during the cell cycle remain largely unknown. Here, we have developed two different chromosome-painting approaches to address how chromosome territories are organized in the fission yeast model organism. We show that condensin frequently associates RNA polymerase III-transcribed genes (tRNA and 5S rRNA) that are present on the same chromosomes, and that the disruption of these associations by condensin mutations significantly compromises the chromosome territory arrangement. We also find that condensin-dependent intra-chromosomal gene associations and chromosome territories are co-regulated during the cell cycle. For example, condensin-directed gene associations occur to the least degree during S phase, with the chromosomal overlap becoming largest. In clear contrast, condensin-directed gene associations become tighter in other cell-cycle phases, especially during mitosis, with the overlap between the different chromosomes being smaller. This study suggests that condensin-driven intra-chromosomal gene associations contribute to the organization and regulation of chromosome territories during the cell cycle. PMID:26704981

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

    PubMed

    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.

  9. Klinefelter syndrome and other sex chromosomal aneuploidies

    PubMed Central

    Visootsak, Jeannie; Graham, John M

    2006-01-01

    The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH), and luteinizing hormone (LH). The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive

  10. Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.

    PubMed

    Miller, K; Pabst, B; Ritter, H; Nürnberg, P; Siebert, R; Schmidtke, J; Arslan-Kirchner, M

    2003-04-01

    We here describe the first example of the replacement of an autosome by two ring chromosomes originating from the missing chromosome, presented in a patient with a single chromosome 18 and two additional ring chromosomes. Detailed fluorescence in situ hybridization (FISH) analysis revealed the chromosome 18 origin of both ring chromosomes and characterized the small and the large ring chromosome as derivatives of the short and long arm of chromosome 18, respectively. The loss of subtelomeric regions of the short and the long arm of chromosome 18 in the ring chromosomes was confirmed by FISH studies. Molecular studies showed the exclusive presence of the paternal alleles for microsatellite markers located distal to the short and long arm loci D18S843 and D18S474, respectively. This indicates the maternal origin of both rings and provides evidence for substantial deletions of the distal parts of both arms of chromosome 18 in the ring chromosomes. The dysmorphic features of the patient can be explained by these deletions in both chromosome arms, as the clinical findings partly overlap with observations in 18p- and 18q-syndrome and are similar to some cases of ring chromosome 18. Centromere misdivision is suggested as one mechanism involved in the formation of the ring chromosomes.

  11. TESTING FOR CPT VIOLATION IN Barrange="stack">0arrange="stack">s SEMILEPTONIC DECAYS

    NASA Astrophysics Data System (ADS)

    Kooten, R. Van

    2014-01-01

    A DØ analysis measuring the charge asymmetry Aarrange="stack">barrange="stack">sl of like-sign dimuon events due to semileptonic b-hadron decays at the Fermilab Tevatron Collider has shown indications of possible anomalous CP violation in the mixing of neutral B mesons. This result has been used to extract the first senstivity to CPT violation in the Barrange="stack">0arrange="stack">s system. An analysis to explore further this anomaly by specifically measuring the semileptonic charge asymmetry, aarrange="stack">sarrange="stack">sl, in Barrange="stack">0arrange="stack">s decays is described, as well as how a variant of this analysis can be used to explore a larger set of CPT-violating parameters in the Barrange="stack">0arrange="stack">s system for the first time.

  12. Structured floral arrangement programme for improving visuospatial working memory in schizophrenia

    PubMed Central

    Mochizuki-Kawai, Hiroko; Yamakawa, Yuriko; Mochizuki, Satoshi; Anzai, Shoko; Arai, Masanobu

    2010-01-01

    Several cognitive therapies have been developed for patients with schizophrenia. However, little is known about the outcomes of these therapies in terms of non-verbal/visuospatial working memory, even though this may affect patients’ social outcomes. In the present pilot study, we investigated the effect of a structured floral arrangement (SFA) programme, where participants were required to create symmetrical floral arrangements. In this programme, the arrangement pattern and the order of placing each of the natural materials was predetermined. Participants have to identify where to place each material, and memorise the position temporarily to complete the floral arrangement. The schizophrenic patients who participated in this programme showed significant improvement in their scores for a block-tapping task backward version; whereas, non-treated control patients did not show such an improvement. The present results suggest that the SFA programme may positively stimulate visuospatial working memory in patients. PMID:20467963

  13. Sex Chromosome Drive

    PubMed Central

    Helleu, Quentin; Gérard, Pierre R.; Montchamp-Moreau, Catherine

    2015-01-01

    Sex chromosome drivers are selfish elements that subvert Mendel's first law of segregation and therefore are overrepresented among the products of meiosis. The sex-biased progeny produced then fuels an extended genetic conflict between the driver and the rest of the genome. Many examples of sex chromosome drive are known, but the occurrence of this phenomenon is probably largely underestimated because of the difficulty to detect it. Remarkably, nearly all sex chromosome drivers are found in two clades, Rodentia and Diptera. Although very little is known about the molecular and cellular mechanisms of drive, epigenetic processes such as chromatin regulation could be involved in many instances. Yet, its evolutionary consequences are far-reaching, from the evolution of mating systems and sex determination to the emergence of new species. PMID:25524548

  14. Meiotic sex chromosome inactivation.

    PubMed

    Turner, James M A

    2007-05-01

    X chromosome inactivation is most commonly studied in the context of female mammalian development, where it performs an essential role in dosage compensation. However, another form of X-inactivation takes place in the male, during spermatogenesis, as germ cells enter meiosis. This second form of X-inactivation, called meiotic sex chromosome inactivation (MSCI) has emerged as a novel paradigm for studying the epigenetic regulation of gene expression. New studies have revealed that MSCI is a special example of a more general mechanism called meiotic silencing of unsynapsed chromatin (MSUC), which silences chromosomes that fail to pair with their homologous partners and, in doing so, may protect against aneuploidy in subsequent generations. Furthermore, failure in MSCI is emerging as an important etiological factor in meiotic sterility.

  15. Allele-Specific Expression Analysis Does Not Support Sex Chromosome Inactivation on the Chicken Z Chromosome.

    PubMed

    Wang, Qiong; Mank, Judith E; Li, Junying; Yang, Ning; Qu, Lujiang

    2017-03-01

    Heterogametic sex chromosomes have evolved many times independently, and in many cases, the loss of functional genes from the sex-limited Y or W chromosome leaves only one functional gene copy on the corresponding X or Z chromosome in the heterogametic sex. Because gene dose often correlates with gene expression level, this difference in gene dose between males and females for X- or Z-linked genes in some cases has selected for chromosome-wide transcriptional dosage compensation mechanisms to counteract any reduction in expression in the heterogametic sex. These mechanisms are thought to restore the balance between sex-linked loci and the autosomal genes they interact with, and this also typically results in equal expression between the sexes. However, dosage compensation in many other species is incomplete, and in the case of birds average expression from males (ZZ) remains higher than in females (ZW). Interestingly, recent reports in chickens and related species have shown that the Z chromosome is expressed less in males than would be expected from two copies of the chromosome, and recent data from cell-based approaches on 11 loci in chicken have suggested that one Z chromosome is partially inactivated in males, in a mechanism thought to be homologous to X inactivation in therian mammals. In the present study, we use controlled crosses in three tissues to test for the presence of Z inactivation in males, which would be expected to bias transcription to the active gene copy (allele-specific expression). We show that for the vast majority of genes on the chicken Z chromosome, males express both parental alleles at statistically similar levels, indicating no Z chromosome inactivation. For those Z chromosome loci with detectable ASE in males, we show that the most likely cause is cis-regulatory variation, rather than Z chromosome inactivation. Taken together, our results indicate that unlike the X chromosome in mammals, Z inactivation does not affect an appreciable

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

    PubMed Central

    Potapova, Tamara; Gorbsky, Gary J.

    2017-01-01

    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. PMID:28208750

  17. Vibrios Commonly Possess Two Chromosomes

    PubMed Central

    Okada, Kazuhisa; Iida, Tetsuya; Kita-Tsukamoto, Kumiko; Honda, Takeshi

    2005-01-01

    The prevalence of the two-chromosome configuration was investigated in 34 species of vibrios and closely related species. Pulsed-field gel electrophoresis of undigested genomic DNA suggested that vibrios commonly have two chromosomes. The size of the large chromosome is predominantly within a narrow range (3.0 to 3.3 Mb), whereas the size of the small chromosome varies considerably among the vibrios (0.8 to 2.4 Mb). This fact suggests that the structure of the small chromosome is more flexible than that of the large chromosome during the evolution of vibrios. PMID:15629946

  18. Ki-67 acts as a biological surfactant to disperse mitotic chromosomes

    PubMed Central

    Cuylen, Sara; Blaukopf, Claudia; Politi, Antonio Z.; Müller-Reichert, Thomas; Neumann, Beate; Poser, Ina; Ellenberg, Jan; Hyman, Anthony A.; Gerlich, Daniel W.

    2016-01-01

    Summary Eukaryotic genomes are partitioned into chromosomes, which during mitosis form compact and spatially well-separated mechanical bodies1–3.This enables chromosomes to move independently of each other for segregation of precisely one copy of the genome to each of the nascent daughter cells. Despite insights into the spatial organization of mitotic chromosomes4 and the discovery of proteins at the chromosome surface3,5,6, the molecular and biophysical basis of mitotic chromosome individuality have remained unclear. We report that Ki-67, a component of the mitotic chromosome periphery, prevents chromosomes from collapsing into a single chromatin mass after nuclear envelope disassembly, thus enabling independent chromosome motility and efficient interactions with the mitotic spindle. The chromosome separation function of Ki-67 is not confined within a specific protein domain but correlates with size and net charge of truncation mutants that apparently lack secondary structure. This suggests that Ki-67 forms a steric and electrical barrier, similar to surface-active agents (surfactants) that disperse particles or phase-separated liquid droplets in solvents. Fluorescence correlation spectroscopy showed a high surface density of Ki-67 and dual-color labeling of both protein termini revealed an extended molecular conformation, indicating brush-like arrangements that are characteristic for polymeric surfactants. Our study thus elucidates a biomechanical role of the mitotic chromosome periphery and suggests that natural proteins can function as surfactants in intracellular compartmentalization. PMID:27362226

  19. Ki-67 acts as a biological surfactant to disperse mitotic chromosomes.

    PubMed

    Cuylen, Sara; Blaukopf, Claudia; Politi, Antonio Z; Müller-Reichert, Thomas; Neumann, Beate; Poser, Ina; Ellenberg, Jan; Hyman, Anthony A; Gerlich, Daniel W

    2016-07-14

    Eukaryotic genomes are partitioned into chromosomes that form compact and spatially well-separated mechanical bodies during mitosis. This enables chromosomes to move independently of each other for segregation of precisely one copy of the genome to each of the nascent daughter cells. Despite insights into the spatial organization of mitotic chromosomes and the discovery of proteins at the chromosome surface, the molecular and biophysical bases of mitotic chromosome structural individuality have remained unclear. Here we report that the proliferation marker protein Ki-67 (encoded by the MKI67 gene), a component of the mitotic chromosome periphery, prevents chromosomes from collapsing into a single chromatin mass after nuclear envelope disassembly, thus enabling independent chromosome motility and efficient interactions with the mitotic spindle. The chromosome separation function of human Ki-67 is not confined within a specific protein domain, but correlates with size and net charge of truncation mutants that apparently lack secondary structure. This suggests that Ki-67 forms a steric and electrostatic charge barrier, similar to surface-active agents (surfactants) that disperse particles or phase-separated liquid droplets in solvents. Fluorescence correlation spectroscopy showed a high surface density of Ki-67 and dual-colour labelling of both protein termini revealed an extended molecular conformation, indicating brush-like arrangements that are characteristic of polymeric surfactants. Our study thus elucidates a biomechanical role of the mitotic chromosome periphery in mammalian cells and suggests that natural proteins can function as surfactants in intracellular compartmentalization.

  20. Chromosomes and clinical anatomy.

    PubMed

    Gardner, Robert James McKinlay

    2016-07-01

    Chromosome abnormalities may cast light on the nature of mechanisms whereby normal anatomy evolves, and abnormal anatomy arises. Correlating genotype to phenotype is an exercise in which the geneticist and the anatomist can collaborate. The increasing power of the new genetic methodologies is enabling an increasing precision in the delineation of chromosome imbalances, even to the nucleotide level; but the classical skills of careful observation and recording remain as crucial as they always have been. Clin. Anat. 29:540-546, 2016. © 2016 Wiley Periodicals, Inc.

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

    PubMed Central

    Pinton, Alain; Ducos, Alain; Yerle, Martine

    2003-01-01

    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. PMID:14604515

  2. Molecular Characterization of the Pericentric Inversion That Causes Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17

    PubMed Central

    Kehrer-Sawatzki, Hildegard; Schreiner, Bettina; Tänzer, Simone; Platzer, Matthias; Müller, Stefan; Hameister, Horst

    2002-01-01

    A comparison of the human genome with that of the chimpanzee is an attractive approach to attempts to understand the specificity of a certain phenotype's development. The two karyotypes differ by one chromosome fusion, nine pericentric inversions, and various additions of heterochromatin to chromosomal telomeres. Only the fusion, which gave rise to human chromosome 2, has been characterized at the sequence level. During the present study, we investigated the pericentric inversion by which chimpanzee chromosome 19 differs from human chromosome 17. Fluorescence in situ hybridization was used to identify breakpoint-spanning bacterial artificial chromosomes (BACs) and plasmid artificial chromosomes (PACs). By sequencing the junction fragments, we localized breakpoints in intergenic regions rich in repetitive elements. Our findings suggest that repeat-mediated nonhomologous recombination has facilitated inversion formation. No addition or deletion of any sequence element was detected at the breakpoints or in the surrounding sequences. Next to the break, at a distance of 10.2–39.1 kb, the following genes were found: NGFR and NXPH3 (on human chromosome 17q21.3) and GUC2D and ALOX15B (on human chromosome 17p13). The inversion affects neither the genomic structure nor the gene-activity state with regard to replication timing of these genes. PMID:12094327

  3. Cytogenetic and Cytogenomic Microarray Characterization of Chromothripsis in Chromosome 8 Affecting MOZ/NCOA2 (TIF2), FGFR1, RUNX1T1, and RUNX1 in a Pediatric Acute Myeloid Leukemia.

    PubMed

    Koduru, Prasad R; Wilson, Kathleen; Wen, Jiadi; Garcia, Rolando; Patel, Sangeeta; Monaghan, Sara A

    2017-05-01

    Concurrent perturbations in different driver genes have been reported primarily in lymphoma. In acute myeloid leukemia (AML), cases with concurrent alterations in 2 driver genes are infrequently reported. In contrast to pathogenetic pathways in lymphoma with concurrently perturbed genes, the initial gene alteration in AML arrests maturation and the alteration in the second gene promote self-renewal of the blasts. Here, we report a unique case of infantile leukemia in which chromothripsis in chromosome 8 completely altered the G-band structure and resulted in concurrent changes in MOZ/NCOA2, FGFR1, RUNX1T1, and RUNX1. These multiple-hit abnormalities in AML have not been reported previously.

  4. Sprinkler arrangement for UiTM's stadium field

    NASA Astrophysics Data System (ADS)

    Abdullah, Nur Lina; Kadir, Norhidayah A.; Safaron, Saiful Bahri; Suder, Nurazeera Md; Omar, Nurul Wahidah

    2013-09-01

    The purpose of this paper is to study the arrangement of water sprinkler at Universiti Teknologi MARA (UiTM), Shah Alam stadium field. There are 35 number of sprinklers used with 7 × 5 arrangement. The current problem is that as there are too many sprinkler used, the overlapping area becomes too large and hence leads to waste. In order to minimize the number of sprinklers used as well as the overlapping area, new arrangement of sprinklers is proposed. The validity of the developed arrangement is tested by using Microsoft Excel and mathematical software, MAPLE 14. Finally, there are six possible arrangements that can be used to replace the current arrangement.

  5. Characterization of chromosomal architecture in Arabidopsis by chromosome conformation capture

    PubMed Central

    2013-01-01

    Background The packaging of long chromatin fibers in the nucleus poses a major challenge, as it must fulfill both physical and functional requirements. Until recently, insights into the chromosomal architecture of plants were mainly provided by cytogenetic studies. Complementary to these analyses, chromosome conformation capture technologies promise to refine and improve our view on chromosomal architecture and to provide a more generalized description of nuclear organization. Results Employing circular chromosome conformation capture, this study describes chromosomal architecture in Arabidopsis nuclei from a genome-wide perspective. Surprisingly, the linear organization of chromosomes is reflected in the genome-wide interactome. In addition, we study the interplay of the interactome and epigenetic marks and report that the heterochromatic knob on the short arm of chromosome 4 maintains a pericentromere-like interaction profile and interactome despite its euchromatic surrounding. Conclusion Despite the extreme condensation that is necessary to pack the chromosomes into the nucleus, the Arabidopsis genome appears to be packed in a predictive manner, according to the following criteria: heterochromatin and euchromatin represent two distinct interactomes; interactions between chromosomes correlate with the linear position on the chromosome arm; and distal chromosome regions have a higher potential to interact with other chromosomes. PMID:24267747

  6. Waveguide arrangements based on adiabatic elimination

    SciTech Connect

    Suchowski, Haim; Mrejen, Michael; Wu, Chihhui; Zhang, Xiang

    2016-09-13

    This disclosure provides systems, methods, and apparatus related to nanophotonics. In one aspect, an arrangement of waveguides includes a substrate and three waveguides. Each of the three waveguides may be a linear waveguide. A second waveguide is positioned between a first waveguide and a third waveguide. The dimensions and positions of the first, the second, and the third waveguides are specified to substantially eliminate coupling between the first waveguide and the third waveguide over a distance of about 1 millimeter to 2 millimeters along lengths of the first waveguide, the second waveguide, and the third waveguide.

  7. Internal Arrangement of the Skylab Orbital Workshop

    NASA Technical Reports Server (NTRS)

    1971-01-01

    The wardroom deck of the Orbital Workshop, showing the living quarters arrangement, is seen here in good detail. From left to right is the dining area, waste management, and sleeping quarters. Portable restraints are on the wall beside the sleeping quarters. The ergometer for the vectorcardiograph (Experiment - M093) and lower-body Negative Pressure (Experiment M092) unit, used in some of the medical experiments, are in the foreground. The round brown object in the center of the room is the trash disposal airlock.

  8. Jet spoiler arrangement for wind turbine

    DOEpatents

    Cyrus, Jack D.; Kadlec, Emil G.; Klimas, Paul C.

    1985-01-01

    An air jet spoiler arrangement is provided for a Darrieus-type vertical axis wind-powered turbine. Air is drawn into hollow turbine blades through air inlets at the ends thereof and is ejected in the form of air jets through small holes or openings provided along the lengths of the blades. The air jets create flow separation at the surfaces of the turbine blades, thereby inducing stall conditions and reducing the output power. A feedback control unit senses the power output of the turbine and controls the amount of air drawn into the air inlets accordingly.

  9. Jet spoiler arrangement for wind turbine

    DOEpatents

    Cyrus, J.D.; Kadlec, E.G.; Klimas, P.C.

    1983-09-15

    An air jet spoiler arrangement is provided for a Darrieus-type vertical axis wind-powered turbine. Air is drawn into hollow turbine blades through air inlets at the end thereof and is ejected in the form of air jets through small holes or openings provided along the lengths of the blades. The air jets create flow separation at the surfaces of the turbine blades, thereby including stall conditions and reducing the output power. A feedback control unit senses the power output of the turbine and controls the amount of air drawn into the air inlets accordingly.

  10. Dental school and community clinic financial arrangements.

    PubMed

    Piskorowski, Wilhelm; Bailit, Howard L; McGowan, Taegen L; Krell, Rachel E

    2011-10-01

    In community-based dental education programs, student-provided services can be an important source of community clinic and practice revenues. The University of Michigan School of Dentistry has developed a revenue-sharing arrangement with multiple community clinics and practices. During their ten-week externship, senior students produce at least $800 a day in patient care revenues, and the school receives an average of $165 per student per day from community sites. These funds are used to cover program costs and enrich the curriculum. Revenue-sharing with community clinics and practices helps to ensure program longevity and is an increasingly significant source of school revenues.

  11. Internal Arrangement of the Skylab Orbital Workshop

    NASA Technical Reports Server (NTRS)

    1971-01-01

    The wardroom deck of the Orbital Workshop, showing the living quarters arrangement, is seen here in good detail. From left to right is the dining area, waste management, and sleeping quarters. Portable restraints are on the wall beside the sleeping quarters. The ergometer for the vectorcardiograph (Experiment - M093) and lower-body Negative Pressure (Experiment M092) unit, used in some of the medical experiments, are in the foreground. The round brown object in the center of the room is the trash disposal airlock.

  12. Sealing arrangement with annular flexible disc

    DOEpatents

    Pennell, William E.; Honigsberg, Charles A.

    1983-01-01

    Fluid sealing arrangements including an annular shaped flexible disc having enlarged edges disposed within channel-shaped annular receptacles which are spaced from one another. The receptacles form an annular region for contacting and containing the enlarged edges of the disc, and the disc is preloaded to a conical configuration. The disc is flexibly and movably supported within the receptacles so that unevenly distributed relative motion between the components containing the receptacles is accommodated without loss of sealing contact between the edges of the disc and the walls of the receptacles.

  13. Monitoring arrangement for vented nuclear fuel elements

    DOEpatents

    Campana, Robert J.

    1981-01-01

    In a nuclear fuel reactor core, fuel elements are arranged in a closely packed hexagonal configuration, each fuel element having diametrically opposed vents permitting 180.degree. rotation of the fuel elements to counteract bowing. A grid plate engages the fuel elements and forms passages for communicating sets of three, four or six individual vents with respective monitor lines in order to communicate vented radioactive gases from the fuel elements to suitable monitor means in a manner readily permitting detection of leakage in individual fuel elements.

  14. The Y Chromosome

    ERIC Educational Resources Information Center

    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…

  15. The Y Chromosome

    ERIC Educational Resources Information Center

    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…

  16. Why Chromosome Palindromes?

    PubMed Central

    Betrán, Esther; Demuth, Jeffery P.; Williford, Anna

    2012-01-01

    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. PMID:22844637

  17. Chromosomes, cancer and radiosensitivity

    SciTech Connect

    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.

  18. Chromosome Variations And Human Behavior

    ERIC Educational Resources Information Center

    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)

  19. [Dicentric Y chromosome].

    PubMed

    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.

  20. Arrangement of Kv1 alpha subunits dictates sensitivity to tetraethylammonium.

    PubMed

    Al-Sabi, Ahmed; Shamotienko, Oleg; Dhochartaigh, Sorcha Ni; Muniyappa, Nagesh; Le Berre, Marie; Shaban, Hamdy; Wang, Jiafu; Sack, Jon T; Dolly, J Oliver

    2010-09-01

    arrangement in heteromeric Kv channels affects TEA affinity.

  1. Arrangement in a heat recovery unit

    SciTech Connect

    Gustavsson, K.A.; Jansson, K.A.; Kruse, R.A.

    1983-03-22

    A heat recovery unit is adapted for installing in a cookery cupboard or the like space in a dwelling. Within a casing the unit has a lamella heat exchanger, which is arranged on one corner edge and has two of its defining surfaces provided with openings for passages facing upwards and two downwards. The heat exchanger has its end walls oriented in vertical planes. It is adapted for heating supply air through heat take-up from exhaust air. Four vertical wall portions form a cross above the heat exchanger, thus providing four chambers for the ingoing and outgoing air flows. By means of portions airtightly sealed against the casing and wall portions the heat exchanger is divided into two portions, each having a cross-stream course between supply air and exhaust air, with its passages for supply air and exhaust air arranged in series with the corresponding passages of the other portion. The heat exchanger is removable as a unit after opening the front of the casing.

  2. Fiber Arrangement in the Rat Tympanic Membrane.

    PubMed

    Liu, Jian; Agrawal, Sumit K; Ladak, Hanif M; Wan, Wankei

    2016-11-01

    The fiber arrangement in the pars tensa of the rat tympanic membrane (TM) was observed using a high resolution scanning electron microscope. The entire pars tensa is composed of fibrils with diameter of approximately 25 nm. These fibrils can be grouped into radial, circular, parabolic, and oblique fibers as reported in other mammals. The radial fibrils interweave into a planar form rather than into discrete cylindrical fibers. Before attaching to the manubrium and tympanic ring, the radial fibrils bend and cross neighboring fibrils to form a random fibril network, and change their direction from perpendicular to somewhat parallel to the manubrium and tympanic ring. The circular fibrils form cylindrical fibers near the peripheral part of the TM while closer to the manubrium, they form planar bundles. The observed fiber morphology and arrangement may provide helpful information in improving numerical models for the TM's acoustical response and designing a fibrous graft for the repair of TM perforations. Anat Rec, 299:1531-1539, 2016. © 2016 Wiley Periodicals, Inc.

  3. Chromosomes tell half of the story: the correlation between karyotype rearrangements and genetic diversity in sedges, a group with holocentric chromosomes.

    PubMed

    Hipp, Andrew L; Rothrock, Paul E; Whitkus, Richard; Weber, Jaime A

    2010-08-01

    Chromosome rearrangements may affect the rate and patterns of gene flow within species, through reduced fitness of structural heterozygotes or by reducing recombination rates in rearranged areas of the genome. While the effects of chromosome rearrangements on gene flow have been studied in a wide range of organisms with monocentric chromosomes, the effects of rearrangements in holocentric chromosomes--chromosomes in which centromeric activity is distributed along the length of the chromosome--have not. We collected chromosome number and molecular genetic data in Carex scoparia, an eastern North American plant species with holocentric chromosomes and highly variable karyotype (2n = 56-70). There are no deep genetic breaks within C. scoparia that would suggest cryptic species differentiation. However, genetic distance between individuals is positively correlated with chromosome number difference and geographic distance. A positive correlation is also found between chromosome number and genetic distance in the western North American C. pachystachya (2n = 74-81). These findings suggest that geographic distance and the number of karyotype rearrangements separating populations affect the rate of gene flow between those populations. This is the first study to quantify the effects of holocentric chromosome rearrangements on the partitioning of intraspecific genetic variance.

  4. Polymer models of interphase chromosomes.

    PubMed

    Vasquez, Paula A; Bloom, Kerry

    2014-01-01

    Clear organizational patterns on the genome have emerged from the statistics of population studies of fixed cells. However, how these results translate into the dynamics of individual living cells remains unexplored. We use statistical mechanics models derived from polymer physics to inquire into the effects that chromosome properties and dynamics have in the temporal and spatial behavior of the genome. Overall, changes in the properties of individual chains affect the behavior of all other chains in the domain. We explore two modifications of chain behavior: single chain motion and chain-chain interactions. We show that there is not a direct relation between these effects, as increase in motion, doesn't necessarily translate into an increase on chain interaction.

  5. Orientation and repositioning of chromosomes correlate with cell geometry–dependent gene expression

    PubMed Central

    Wang, Yejun; Nagarajan, Mallika; Uhler, Caroline; Shivashankar, G. V.

    2017-01-01

    Extracellular matrix signals from the microenvironment regulate gene expression patterns and cell behavior. Using a combination of experiments and geometric models, we demonstrate correlations between cell geometry, three-dimensional (3D) organization of chromosome territories, and gene expression. Fluorescence in situ hybridization experiments showed that micropatterned fibroblasts cultured on anisotropic versus isotropic substrates resulted in repositioning of specific chromosomes, which contained genes that were differentially regulated by cell geometries. Experiments combined with ellipsoid packing models revealed that the mechanosensitivity of chromosomes was correlated with their orientation in the nucleus. Transcription inhibition experiments suggested that the intermingling degree was more sensitive to global changes in transcription than to chromosome radial positioning and its orientations. These results suggested that cell geometry modulated 3D chromosome arrangement, and their neighborhoods correlated with gene expression patterns in a predictable manner. This is central to understanding geometric control of genetic programs involved in cellular homeostasis and the associated diseases. PMID:28615317

  6. Origin of human chromosome 2: An ancestral telomere-telomere fusion

    SciTech Connect

    Ijdo, J.W.; Baldini, A.; Ward, D.C.; Reeders, S.T.; Wells, R.A. )

    1991-10-15

    The authors identified two allelic genomic cosmids from human chromosome 2, c8.1 and c29B, each containing two inverted arrays of the vertebrate telomeric repeat in a head-to-head arrangement, 5{prime}(TTAGGG){sub n}-(CCCTAA){sub m}3{prime}. Sequences flanking this telomeric repeat are characteristic of present-day human pretelomeres. BAL-31 nuclease experiments with yeast artificial chromosome clones of human telomeres and fluorescence in situ hybridization reveal that sequences flanking these inverted repeats hybridize both to band 2q13 and to different, but overlapping, subsets of human chromosome ends. They conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.

  7. [Chromosome territories in the interphase nucleus in normal or pathological condition].

    PubMed

    Lavrov, A V; Vol'dgorn, Ia I; Bochkov, N P

    2011-01-01

    The non-random arrangement of chromosomes in the interphase nucleus was observed for the first time in the late XIX century. However, considerable progress in studying chromosome territories became possible only in the end of the XX century mainly due to advances in microscopy and molecular biology. At present, chromosome territories are believed to play an important role in epigenetic regulation of genome activity during various cell processes including but not limited to cell cycle, differentiation, stress response. 3D structure of genome also plays an important role in pathogenesis of various hereditary diseases and cancer. This article describes main provisions of the chromosome territory theory and current trends toward further development of human genetics based on the new knowledge about the role of chromosome territories.

  8. Polymorphisms on the right arm of yeast chromosome III associated with Ty transposition and recombination events.

    PubMed Central

    Warmington, J R; Green, R P; Newlon, C S; Oliver, S G

    1987-01-01

    The region of Saccharomyces cerevisiae chromosome III centromere-distal to the PGK gene is the site of frequent chromosome polymorphisms. We have sequenced this region from fragments of chromosome III isolated from three different yeast strains, GRF88, CN31C and CF4-16B. The sequence analysis demonstrates that these polymorphisms are associated with the presence of Ty and delta elements and defines a region of the chromosome which is a hot-spot for transposition events (the RAHS). The three strains can be arranged into a logical evolutionary series in which successive transposition and recombination events insert Ty elements and fuse them with consequent deletions of chromosome and of transposon sequences. The influence of such events on yeast genome evolution is discussed. Images PMID:2825123

  9. Salivary Polytene Chromosome Map of Anopheles darlingi, the Main Vector of Neotropical Malaria

    PubMed Central

    Rafael, Míriam S.; Rohde, Cláudia; Bridi, Letícia C.; da Silva Valente Gaiesky, Vera Lúcia; Tadei, Wanderli P.

    2010-01-01

    New photomap of Anopheles (Nyssorhynchus) darlingi Root, 1926, is described for a population from Guajará-Mirim, State of Rondonia, Brazil. The number of sections in the previous A. darlingi reference map was maintained and new subsections were added to the five chromosome arms. Breakage points of paracentric inversions had been previously incorporated into the photomap of this species. An additional inversion is reported, called 3Lc, totaling 14 inversions in the A. darlingi chromosome arms. The proposed photomap is potentially useful for further evolutionary studies in addition to physical and in silico chromosome mapping using A. darlingi genomic and transcriptome sequences. Furthermore, in our attempt to compare sections of the 2R chromosome arm of A. darlingi with Anopheles funestus, Anopheles stephensi, and Anopheles gambiae, we found great differences in the arrangement of the polytene chromosome bands, which are consistent with the known phylogenetic divergence of these species. PMID:20682862

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

    PubMed

    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. Copyright 2010 Wiley-Liss, Inc.

  11. Origin and domestication of papaya Yh chromosome

    PubMed Central

    VanBuren, Robert; Zeng, Fanchang; Chen, Cuixia; Zhang, Jisen; Wai, Ching Man; Han, Jennifer; Aryal, Rishi; Gschwend, Andrea R.; Wang, Jianping; Na, Jong-Kuk; Huang, Lixian; Zhang, Lingmao; Miao, Wenjing; Gou, Jiqing; Arro, Jie; Guyot, Romain; Moore, Richard C.; Wang, Ming-Li; Zee, Francis; Charlesworth, Deborah; Moore, Paul H.; Yu, Qingyi; Ming, Ray

    2015-01-01

    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 previously. We now report the sequence of the entire male-specific region of the Y (MSY). We used a BAC-by-BAC approach to sequence the MSY and resequence the Y regions of 24 wild males and the Yh regions of 12 cultivated hermaphrodites. The MSY and HSY regions have highly similar gene content and structure, and only 0.4% sequence divergence. The MSY sequences from wild males include three distinct haplotypes, associated with the populations’ geographic locations, but gene flow is detected for other genomic regions. The Yh sequence is highly similar to one Y haplotype (MSY3) found only in wild dioecious populations from the north Pacific region of Costa Rica. The low MSY3-Yh divergence supports the hypothesis that hermaphrodite papaya is a product of human domestication. We estimate that Yh arose only ∼4000 yr ago, well after crop plant domestication in Mesoamerica >6200 yr ago but coinciding with the rise of the Maya civilization. The Yh chromosome has lower nucleotide diversity than the Y, or the genome regions that are not fully sex-linked, consistent with a domestication bottleneck. The identification of the ancestral MSY3 haplotype will expedite investigation of the mutation leading to the domestication of the hermaphrodite Yh chromosome. In turn, this mutation should identify the gene that was affected by the carpel-suppressing mutation that was involved in the evolution of males. PMID:25762551

  12. Relationship outcomes in Indian-American love-based and arranged marriages.

    PubMed

    Regan, Pamela C; Lakhanpal, Saloni; Anguiano, Carlos

    2012-06-01

    The meaning and purpose of marriage, and the manner in which spouses are selected, varies across cultures. Although many cultures have a tradition of arranged marriage, researchers interested in marital dynamics generally have focused on love-based marriages. Consequently, there is little information on relational outcomes within arranged marriages. This study compared relationship outcomes in love-based and arranged marriages contracted in the U.S. A community sample of 58 Indian participants living in the U.S. (28 arranged marriages, 30 love-based marriages) completed measures of marital satisfaction, commitment, companionate love, and passionate love. Men reported greater amounts of commitment, passionate love, and companionate love than women. Unexpectedly, no differences were found between participants in arranged and love-based marriages; high ratings of love, satisfaction, and commitment were observed in both marriage types. The overall affective experiences of partners in arranged and love marriages appear to be similar, at least among Indian adults living in contemporary U.S. society.

  13. Chromosome transplantation as a novel approach for correcting complex genomic disorders

    PubMed Central

    Paulis, Marianna; Castelli, Alessandra; Susani, Lucia; Lizier, Michela; Lagutina, Irina; Focarelli, Maria Luisa; Recordati, Camilla; Uva, Paolo; Faggioli, Francesca; Neri, Tui; Scanziani, Eugenio; Galli, Cesare; Lucchini, Franco; Villa, Anna; Vezzoni, Paolo

    2015-01-01

    Genomic disorders resulting from large rearrangements of the genome remain an important unsolved issue in gene therapy. Chromosome transplantation, defined as the perfect replacement of an endogenous chromosome with a homologous one, has the potential of curing this kind of disorders. Here we report the first successful case of chromosome transplantation by replacement of an endogenous X chromosome carrying a mutation in the Hprt gene with a normal one in mouse embryonic stem cells (ESCs), correcting the genetic defect. The defect was also corrected by replacing the Y chromosome with an X chromosome. Chromosome transplanted clones maintained in vitro and in vivo features of stemness and contributed to chimera formation. Genome integrity was confirmed by cytogenetic and molecular genome analysis. The approach here proposed, with some modifications, might be used to cure various disorders due to other X chromosome aberrations in induced pluripotent stem (iPS) cells derived from affected patients. PMID:26485770

  14. Coordinating cohesion, co-orientation, and congression during meiosis: lessons from holocentric chromosomes.

    PubMed

    Schvarzstein, Mara; Wignall, Sarah M; Villeneuve, Anne M

    2010-02-01

    Organisms that reproduce sexually must reduce their chromosome number by half during meiosis to generate haploid gametes. To achieve this reduction in ploidy, organisms must devise strategies to couple sister chromatids so that they stay together during the first meiotic division (when homologous chromosomes separate) and then segregate away from one another during the second division. Here we review recent findings that shed light on how Caenorhabditis elegans, an organism with holocentric chromosomes, deals with these challenges of meiosis by differentiating distinct chromosomal subdomains and remodeling chromosome structure during prophase. Furthermore, we discuss how features of chromosome organization established during prophase affect later chromosome behavior during the meiotic divisions. Finally, we illustrate how analysis of holocentric meiosis can inform our thinking about mechanisms that operate on monocentric chromosomes.

  15. Nonrandom chromosomal imbalances in primary mediastinal B-cell lymphoma detected by arbitrarily primed PCR fingerprinting.

    PubMed

    Scarpa, A; Taruscio, D; Scardoni, M; Iosi, F; Paradisi, S; Ennas, M G; Rigaud, G; Moore, P S; Menestrina, F

    1999-11-01

    We used arbitrarily primed polymerase chain reaction (AP-PCR) fingerprinting to identify chromosomal imbalances in six primary mediastinal B-cell lymphomas (PMBLs). Seventy-four chromosomal imbalances were detected, consisting of 49 sequence gains and 25 losses. Amplifications on chromosome X were seen in five cases, four of which involved the same chromosomal locus. Nonrandom gains at the same locus were also identified on chromosomes 2 and 7 in four cases and on chromosomes 5, 9, and 12 in three cases. Five PMBLs were also analyzed by comparative genomic hybridization (CGH), which found chromosome arm 9p amplification as the only nonrandom imbalance. Our data demonstrate that chromosomal amplifications outnumber losses in PMBL. These mainly involve chromosomes 9 and X and may reflect more complex phenomena, such as translocations or other chromosomal rearrangements, as AP-PCR found coexistent gains and losses on these chromosomes. Comparison between AP-PCR and CGH suggests that anomalies affecting the same chromosomal regions may occur at much higher frequencies than expected by CGH, suggesting that genomic amplifications are usually confined to DNA segments smaller than the megabase long segments required for detection in CGH. Modest increases in genetic material may be as effective as higher-level amplifications when affecting sites where a proto-oncogene resides. Copyright 1999 Wiley-Liss, Inc.

  16. A QTL on the short arm of wheat (Triticum aestivum L.) chromosome 3B affects the stability of grain weight in plants exposed to a brief heat shock early in grain filling.

    PubMed

    Shirdelmoghanloo, Hamid; Taylor, Julian D; Lohraseb, Iman; Rabie, Huwaida; Brien, Chris; Timmins, Andy; Martin, Peter; Mather, Diane E; Emebiri, Livinus; Collins, Nicholas C

    2016-04-22

    Molecular markers and knowledge of traits associated with heat tolerance are likely to provide breeders with a more efficient means of selecting wheat varieties able to maintain grain size after heat waves during early grain filling. A population of 144 doubled haploids derived from a cross between the Australian wheat varieties Drysdale and Waagan was mapped using the wheat Illumina iSelect 9,000 feature single nucleotide polymorphism marker array and used to detect quantitative trait loci for heat tolerance of final single grain weight and related traits. Plants were subjected to a 3 d heat treatment (37 °C/27 °C day/night) in a growth chamber at 10 d after anthesis and trait responses calculated by comparison to untreated control plants. A locus for single grain weight stability was detected on the short arm of chromosome 3B in both winter- and autumn-sown experiments, determining up to 2.5 mg difference in heat-induced single grain weight loss. In one of the experiments, a locus with a weaker effect on grain weight stability was detected on chromosome 6B. Among the traits measured, the rate of flag leaf chlorophyll loss over the course of the heat treatment and reduction in shoot weight due to heat were indicators of loci with significant grain weight tolerance effects, with alleles for grain weight stability also conferring stability of chlorophyll ('stay-green') and shoot weight. Chlorophyll loss during the treatment, requiring only two non-destructive readings to be taken, directly before and after a heat event, may prove convenient for identifying heat tolerant germplasm. These results were consistent with grain filling being limited by assimilate supply from the heat-damaged photosynthetic apparatus, or alternatively, accelerated maturation in the grains that was correlated with leaf senescence responses merely due to common genetic control of senescence responses in the two organs. There was no evidence for a role of mobilized stem reserves (water

  17. Suppression of chromosomal mutations affecting M/sub 1/ virus replication in Saccharomyces cerevisiae by a variant of a viral RNA segment (L-A) that encodes coat protein

    SciTech Connect

    Uemura, H.; Wickner, R.B.

    1988-02-01

    For the maintenance of ''killer'' M/sub 1/ double-stranded RNA in Saccharomyces cerevisiae, more than 30 chromosomal genes are required. The requirement for some of these genes can be completely suppressed by a cytoplasmic element, (B) (for bypass). The authors isolated a mutant unable to maintain (B) (mab) and found that it is allelic to MAK10, one of the three chromosomal MAK genes required for the maintenance of L-A. The heat curing of (B) always coincided with the loss of L-A. To confirm that (B) is located on L-A, the authors purified viral particles containing either L-A or M/sub 1/ from strains with or without (B) activity and transfected these purified particles into a strain which did not have either L-A or M/sub 1/. The transfectants harboring L-A and M/sub 1/ from a (B) strain showed the (B) phenotype, but the transfectants with L-A and M/sub 1/ from a (B-o) strain did not show the (B) phenotype. Furthermore, the transfectants having L-A from a (B) strain and M/sub 1/ from a (B-o) strain also showed the (B) phenotype. Therefore, they concluded that (B) is a property of a variant of L-A. In the transfection experiment, the authors also proved that the superkiller phenotype of the (B) strain is a property of L-A and that L-A wit (B) activity can maintain a higher copy number of M/sub 1/ regardless of the source M/sub 1/ viruslike particles. These data suggest the MAK genes whose mutations are suppressed by (B) are concerned with the protection of M/sub 1/ (+) single-stranded RNA or the formation of M/sub 1/ viruslike particles and that an L-A with more efficient production of M/sub 1/ viruslike particles can completely dispense with the requirement for those MAK genes.

  18. Chromosomal changes during development and progression of prostate adenocarcinomas

    PubMed Central

    Zitzelsberger, H; Engert, D; Walch, A; Kulka, U; Aubele, M; Höfler, H; Bauchinger, M; Werner, M

    2001-01-01

    Chromosomal copy number changes were investigated in 16 prostate carcinomas, 12 prostatic intraepithelial neoplasias (PIN; 4 low-grade and 8 high-grade) adjacent to the invasive tumour areas, and 5 regional lymph node metastases. For this purpose, comparative genomic hybridization (CGH) was performed and a copy number karyotype for each histomorphological entity was created. CGH on microdissected cells from non-neoplastic glands was carried out on 3 different cases to demonstrate the reliability of the overall procedure. None of the non-neoplastic tissue samples revealed chromosome copy number changes. In PIN areas, chromosomal imbalances were detected on chromosomes 7, 8q, Xq (gains), and on 4q, 5q, 8p, 13q and 18q (losses). In the primary tumours, recurrent (at least 25% of cases) gains on chromosomes 12q and 15q, and losses on 2q, 4q, 5q, Xq, 13q and 18q became apparent. Losses on 8p and 6q as well as gains on 8q and of chromosome 7 were also detected at lower frequencies than previously reported. The pooled CGH data from the primary carcinomas revealed a novel region of chromosomal loss on 4q which is also frequently affected in other tumour entities like oesophageal adenocarcinomas and is supposed to harbour a new tumour suppressor gene. Gains on chromosome 9q and of chromosome 16 and loss on chromosome 13q were observed as common aberrations in metastases and primary tumours. These CGH results indicate an accumulation of chromosomal imbalances during the PIN–carcinoma–metastasis sequence and an early origin of tumour-specific aberrations in PIN areas. © 2001 Cancer Research Campaign http://www.bjcancer.com PMID:11161378

  19. [Chromosomal organization of the genomes of small-chromosome plants].

    PubMed

    Muravenko, O V; Zelenin, A V

    2009-11-01

    An effective approach to study the chromosome organization in genomes of plants with small chromosomes and/or with low-informative C-banding patterns was developed in the course of investigation of the karyotypes of cotton plant, camomile, flax, and pea. To increase the resolving power of chromosome analysis, methods were worked out for revealing early replication patterns on chromosomes and for artificial impairment of mitotic chromosome condensation with the use of a DNA intercalator, 9-aminoacridine (9-AMA). To estimate polymorphism of the patterns of C-banding of small chromosomes on preparations obtained with the use of 9-AMA, it is necessary to choose a length interval that must not exceed three average sizes of metaphase chromosomes without the intercalator. The use of 9-AMA increases the resolution of differential C- and OR-banding and the precision of physical chromosome mapping by the FISH method. Of particular importance in studying small chromosomes is optimization of the computer-aided methods used to obtain and process chromosome images. The complex approach developed for analysis of the chromosome organization in plant genomes was used to study the karyotypes of 24 species of the genus Linum L. It permitted their chromosomes to be identified for the first time, and, in addition, B chromosomes were discovered and studied in the karyotypes of the species of the section Syllinum. By similarity of the karyotypes, the studied flax species were distributed in eight groups in agreement with the clusterization of these species according to the results of RAPD analysis performed in parallel. Systematic positions and phylogenetic relationships of the studied flax species were verified. Out results can serve as an important argument in favour of the proposal to develop a special program for sequencing the genome of cultivated flax (L. usitatissimum L.), which is a major representative of small-chromosome species.

  20. The two Cis-acting sites, parS1 and oriC1, contribute to the longitudinal organisation of Vibrio cholerae chromosome I.

    PubMed

    David, Ariane; Demarre, Gaëlle; Muresan, Leila; Paly, Evelyne; Barre, François-Xavier; Possoz, Christophe

    2014-07-01

    The segregation of bacterial chromosomes follows a precise choreography of spatial organisation. It is initiated by the bipolar migration of the sister copies of the replication origin (ori). Most bacterial chromosomes contain a partition system (Par) with parS sites in close proximity to ori that contribute to the active mobilisation of the ori region towards the old pole. This is thought to result in a longitudinal chromosomal arrangement within the cell. In this study, we followed the duplication frequency and the cellular position of 19 Vibrio cholerae genome loci as a function of cell length. The genome of V. cholerae is divided between two chromosomes, chromosome I and II, which both contain a Par system. The ori region of chromosome I (oriI) is tethered to the old pole, whereas the ori region of chromosome II is found at midcell. Nevertheless, we found that both chromosomes adopted a longitudinal organisation. Chromosome I extended over the entire cell while chromosome II extended over the younger cell half. We further demonstrate that displacing parS sites away from the oriI region rotates the bulk of chromosome I. The only exception was the region where replication terminates, which still localised to the septum. However, the longitudinal arrangement of chromosome I persisted in Par mutants and, as was reported earlier, the ori region still localised towards the old pole. Finally, we show that the Par-independent longitudinal organisation and oriI polarity were perturbed by the introduction of a second origin. Taken together, these results suggest that the Par system is the major contributor to the longitudinal organisation of chromosome I but that the replication program also influences the arrangement of bacterial chromosomes.

  1. 48 CFR 28.304 - Risk-pooling arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... CONTRACTING REQUIREMENTS BONDS AND INSURANCE Insurance 28.304 Risk-pooling arrangements. Agencies may establish risk-pooling arrangements. These arrangements are designed to use the services of the insurance industry for safety engineering and the handling of claims at minimum cost to the Government. The...

  2. 48 CFR 28.304 - Risk-pooling arrangements.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... CONTRACTING REQUIREMENTS BONDS AND INSURANCE Insurance 28.304 Risk-pooling arrangements. Agencies may establish risk-pooling arrangements. These arrangements are designed to use the services of the insurance industry for safety engineering and the handling of claims at minimum cost to the Government. The...

  3. 48 CFR 28.304 - Risk-pooling arrangements.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... CONTRACTING REQUIREMENTS BONDS AND INSURANCE Insurance 28.304 Risk-pooling arrangements. Agencies may establish risk-pooling arrangements. These arrangements are designed to use the services of the insurance industry for safety engineering and the handling of claims at minimum cost to the Government. The...

  4. 48 CFR 28.304 - Risk-pooling arrangements.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... CONTRACTING REQUIREMENTS BONDS AND INSURANCE Insurance 28.304 Risk-pooling arrangements. Agencies may establish risk-pooling arrangements. These arrangements are designed to use the services of the insurance industry for safety engineering and the handling of claims at minimum cost to the Government. The...

  5. 48 CFR 28.304 - Risk-pooling arrangements.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... CONTRACTING REQUIREMENTS BONDS AND INSURANCE Insurance 28.304 Risk-pooling arrangements. Agencies may establish risk-pooling arrangements. These arrangements are designed to use the services of the insurance industry for safety engineering and the handling of claims at minimum cost to the Government. The...

  6. 14 CFR 25.477 - Landing gear arrangement.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 14 Aeronautics and Space 1 2013-01-01 2013-01-01 false Landing gear arrangement. 25.477 Section 25... AIRWORTHINESS STANDARDS: TRANSPORT CATEGORY AIRPLANES Structure Ground Loads § 25.477 Landing gear arrangement. Sections 25.479 through 25.485 apply to airplanes with conventional arrangements of main and nose gears,...

  7. 14 CFR 23.477 - Landing gear arrangement.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false Landing gear arrangement. 23.477 Section 23....477 Landing gear arrangement. Sections 23.479 through 23.483, or the conditions in appendix C, apply to airplanes with conventional arrangements of main and nose gear, or main and tail gear....

  8. 14 CFR 23.477 - Landing gear arrangement.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 14 Aeronautics and Space 1 2011-01-01 2011-01-01 false Landing gear arrangement. 23.477 Section 23....477 Landing gear arrangement. Sections 23.479 through 23.483, or the conditions in appendix C, apply to airplanes with conventional arrangements of main and nose gear, or main and tail gear....

  9. 14 CFR 23.477 - Landing gear arrangement.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 14 Aeronautics and Space 1 2014-01-01 2014-01-01 false Landing gear arrangement. 23.477 Section 23....477 Landing gear arrangement. Sections 23.479 through 23.483, or the conditions in appendix C, apply to airplanes with conventional arrangements of main and nose gear, or main and tail gear....

  10. 14 CFR 23.477 - Landing gear arrangement.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 14 Aeronautics and Space 1 2012-01-01 2012-01-01 false Landing gear arrangement. 23.477 Section 23....477 Landing gear arrangement. Sections 23.479 through 23.483, or the conditions in appendix C, apply to airplanes with conventional arrangements of main and nose gear, or main and tail gear....

  11. 14 CFR 25.477 - Landing gear arrangement.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 14 Aeronautics and Space 1 2011-01-01 2011-01-01 false Landing gear arrangement. 25.477 Section 25... AIRWORTHINESS STANDARDS: TRANSPORT CATEGORY AIRPLANES Structure Ground Loads § 25.477 Landing gear arrangement. Sections 25.479 through 25.485 apply to airplanes with conventional arrangements of main and nose gears,...

  12. 14 CFR 25.477 - Landing gear arrangement.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 14 Aeronautics and Space 1 2014-01-01 2014-01-01 false Landing gear arrangement. 25.477 Section 25... AIRWORTHINESS STANDARDS: TRANSPORT CATEGORY AIRPLANES Structure Ground Loads § 25.477 Landing gear arrangement. Sections 25.479 through 25.485 apply to airplanes with conventional arrangements of main and nose gears,...

  13. 14 CFR 25.477 - Landing gear arrangement.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false Landing gear arrangement. 25.477 Section 25... AIRWORTHINESS STANDARDS: TRANSPORT CATEGORY AIRPLANES Structure Ground Loads § 25.477 Landing gear arrangement. Sections 25.479 through 25.485 apply to airplanes with conventional arrangements of main and nose gears,...

  14. 14 CFR 23.477 - Landing gear arrangement.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 14 Aeronautics and Space 1 2013-01-01 2013-01-01 false Landing gear arrangement. 23.477 Section 23....477 Landing gear arrangement. Sections 23.479 through 23.483, or the conditions in appendix C, apply to airplanes with conventional arrangements of main and nose gear, or main and tail gear....

  15. 14 CFR 25.477 - Landing gear arrangement.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 14 Aeronautics and Space 1 2012-01-01 2012-01-01 false Landing gear arrangement. 25.477 Section 25... AIRWORTHINESS STANDARDS: TRANSPORT CATEGORY AIRPLANES Structure Ground Loads § 25.477 Landing gear arrangement. Sections 25.479 through 25.485 apply to airplanes with conventional arrangements of main and nose gears,...

  16. 45 CFR 303.107 - Requirements for cooperative arrangements.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 45 Public Welfare 2 2011-10-01 2011-10-01 false Requirements for cooperative arrangements. 303.107... HUMAN SERVICES STANDARDS FOR PROGRAM OPERATIONS § 303.107 Requirements for cooperative arrangements. The State must ensure that all cooperative arrangements: (a) Contain a clear description of the...

  17. 22 CFR 92.63 - Arrangement of papers.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 22 Foreign Relations 1 2013-04-01 2013-04-01 false Arrangement of papers. 92.63 Section 92.63... and Letters Rogatory § 92.63 Arrangement of papers. Unless special instructions to the contrary are received, the various papers comprising the completed record of the depositions should usually be arranged...

  18. 22 CFR 92.63 - Arrangement of papers.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Arrangement of papers. 92.63 Section 92.63... and Letters Rogatory § 92.63 Arrangement of papers. Unless special instructions to the contrary are received, the various papers comprising the completed record of the depositions should usually be arranged...

  19. 22 CFR 92.63 - Arrangement of papers.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 22 Foreign Relations 1 2014-04-01 2014-04-01 false Arrangement of papers. 92.63 Section 92.63... and Letters Rogatory § 92.63 Arrangement of papers. Unless special instructions to the contrary are received, the various papers comprising the completed record of the depositions should usually be arranged...

  20. 22 CFR 92.63 - Arrangement of papers.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 22 Foreign Relations 1 2011-04-01 2011-04-01 false Arrangement of papers. 92.63 Section 92.63... and Letters Rogatory § 92.63 Arrangement of papers. Unless special instructions to the contrary are received, the various papers comprising the completed record of the depositions should usually be arranged...