Generalised deletion designs | Gachii | African Journal of Science ...

African Journals Online (AJOL)

In this paper asymmetrical single replicate factorial designs are constructed from symmetrical single replicate factorial designs using the deletion technique. The study is along the lines of Voss(1986), Chauhan(1989) and Gachii and Odhiambo(1997). We give results for the general order deletion designs of the form sn-m1(s ...

Quantum deletion: Beyond the no-deletion principle

International Nuclear Information System (INIS)

Adhikari, Satyabrata

2005-01-01

Suppose we are given two identical copies of an unknown quantum state and we wish to delete one copy from among the given two copies. The quantum no-deletion principle restricts us from perfectly deleting a copy but it does not prohibit us from deleting a copy approximately. Here we construct two types of a 'universal quantum deletion machine' which approximately deletes a copy such that the fidelity of deletion does not depend on the input state. The two types of universal quantum deletion machines are (1) a conventional deletion machine described by one unitary operator and (2) a modified deletion machine described by two unitary operators. Here it is shown that the modified deletion machine deletes a qubit with fidelity 3/4, which is the maximum limit for deleting an unknown quantum state. In addition to this we also show that the modified deletion machine retains the qubit in the first mode with average fidelity 0.77 (approx.) which is slightly greater than the fidelity of measurement for two given identical states, showing how precisely one can determine its state [S. Massar and S. Popescu, Phys. Rev. Lett. 74, 1259 (1995)]. We also show that the deletion machine itself is input state independent, i.e., the information is not hidden in the deleting machine, and hence we can delete the information completely from the deletion machine

Spring 5 & reactive streams

CERN Multimedia

CERN. Geneva; Clozel, Brian

2017-01-01

Spring is a framework widely used by the world-wide Java community, and it is also extensively used at CERN. The accelerator control system is constituted of 10 million lines of Java code, spread across more than 1000 projects (jars) developed by 160 software engineers. Around half of this (all server-side Java code) is based on the Spring framework. Warning: the speakers will assume that people attending the seminar are familiar with Java and Spring’s basic concepts. Spring 5.0 and Spring Boot 2.0 updates (45 min) This talk will cover the big ticket items in the 5.0 release of Spring (including Kotlin support, @Nullable and JDK9) and provide an update on Spring Boot 2.0, which is scheduled for the end of the year. Reactive Spring (1h) Spring Framework 5.0 has been released - and it now supports reactive applications in the Spring ecosystem. During this presentation, we'll talk about the reactive foundations of Spring Framework with the Reactor project and the reactive streams specification. We'll al...

An interaction analysis of twin surface cracks by the line-spring model

International Nuclear Information System (INIS)

Kim, Y.J.; Yang, W.H.; Choy, Y.S.; Lee, J.S.

1992-01-01

The fracture mechanics analysis of surface cracks is important for the integrity evaluation of flawed structural components. The objective of this paper is to numerically investigate the interaction effect of twin surface cracks in plate and cylindrical geometrie. First the usefulness of the line-spring model is verified by analyzing a single surface crack in a plate, and then the model is extended to twin surface crack in plate and cylindrical geometries. For the case of a finite plate under uniaxial loading, the effect of crack spacing on the stress intensity factor is negligible. However, for the case of a cylinder under moderate internal pressure, a significant increase in stress intensity factor is observed at the deepest point of the surface crack. (orig.)

PROBING THE PHYSICS OF NARROW LINE REGIONS IN ACTIVE GALAXIES. II. THE SIDING SPRING SOUTHERN SEYFERT SPECTROSCOPIC SNAPSHOT SURVEY (S7)

Energy Technology Data Exchange (ETDEWEB)

Dopita, Michael A.; Davies, Rebecca; Kewley, Lisa; Hampton, Elise; Sutherland, Ralph [RSAA, Australian National University, Cotter Road, Weston Creek, ACT 2611 (Australia); Shastri, Prajval; Kharb, Preeti; Jose, Jessy; Bhatt, Harish; Ramya, S. [Indian Institute of Astrophysics, Koramangala 2 B Block, Bangalore 560034 (India); Scharwächter, Julia [LERMA, Observatoire de Paris, CNRS, UMR 8112, 61 Avenue de l’Observatoire, F-75014 Paris (France); Jin, Chichuan [Qian Xuesen Laboratory for Space Technology, Beijing (China); Banfield, Julie [CSIRO Astronomy and Space Science, P.O. Box 76, Epping NSW, 1710 Australia (Australia); Zaw, Ingyin [New York University (Abu Dhabi), 70 Washington Square South, New York, NY 10012 (United States); Juneau, Stéphanie [CEA-Saclay, DSM/IRFU/SAp, F-91191 Gif-sur-Yvette (France); James, Bethan [Institute of Astronomy, Cambridge University, Madingley Road, Cambridge CB3 0HA (United Kingdom); Srivastava, Shweta, E-mail: Michael.Dopita@anu.edu.au [Astronomy and Astrophysics Division, Physical Research Laboratory, Ahmedabad 380009 (India)

2015-03-15

Here we describe the Siding Spring Southern Seyfert Spectroscopic Snapshot Survey (S7) and present results on 64 galaxies drawn from the first data release. The S7 uses the Wide Field Spectrograph mounted on the ANU 2.3 m telescope located at the Siding Spring Observatory to deliver an integral field of 38 × 25 arcsec at a spectral resolution of R = 7000 in the red (530–710 nm), and R = 3000 in the blue (340–560 nm). From these data cubes we have extracted the narrow-line region spectra from a 4 arcsec aperture centered on the nucleus. We also determine the Hβ and [O iii] λ5007 fluxes in the narrow lines, the nuclear reddening, the reddening-corrected relative intensities of the observed emission lines, and the Hβ and [O iii] λ5007 luminosities determined from spectra for which the stellar continuum has been removed. We present a set of images of the galaxies in [O iii] λ5007, [N ii] λ6584, and Hα, which serve to delineate the spatial extent of the extended narrow-line region and also to reveal the structure and morphology of the surrounding H ii regions. Finally, we provide a preliminary discussion of those Seyfert 1 and Seyfert 2 galaxies that display coronal emission lines in order to explore the origin of these lines.

SPring-8 and application of nuclear scattering

Energy Technology Data Exchange (ETDEWEB)

Harami, Taikan [Japan Atomic Energy Research Inst., Kamigori, Hyogo (Japan). Kansai Research Establishment

1997-03-01

The SPring-8 has Linac synchrotron, incidence type facility and an accumulation ring. By preparing a beam line to take out light at the accumulation ring, the SPring-8 is supplied for common applications. Development of science adopting new method to study of properties and organisms by using high brightness source is expected. Construction of the SPring-8 accelerator was finished and adjusting test and commissioning of apparatuses are now in proceeding. At pre-use inspection of the accumulation ring on March, 1997, beam lines for R and D and crystalline structure analysis are applied to the Science and Technology Agency to inspect them simultaneously. And, by activating character of the SPring-8 radiation facility of high brightness and high energy X-ray generator, property study using Moessbauer nuclide to a probe can be conducted. (G.K.)

Integrated high-resolution array CGH and SKY analysis of homozygous deletions and other genomic alterations present in malignant mesothelioma cell lines.

Science.gov (United States)

Klorin, Geula; Rozenblum, Ester; Glebov, Oleg; Walker, Robert L; Park, Yoonsoo; Meltzer, Paul S; Kirsch, Ilan R; Kaye, Frederic J; Roschke, Anna V

2013-05-01

High-resolution oligonucleotide array comparative genomic hybridization (aCGH) and spectral karyotyping (SKY) were applied to a panel of malignant mesothelioma (MMt) cell lines. SKY has not been applied to MMt before, and complete karyotypes are reported based on the integration of SKY and aCGH results. A whole genome search for homozygous deletions (HDs) produced the largest set of recurrent and non-recurrent HDs for MMt (52 recurrent HDs in 10 genomic regions; 36 non-recurrent HDs). For the first time, LINGO2, RBFOX1/A2BP1, RPL29, DUSP7, and CCSER1/FAM190A were found to be homozygously deleted in MMt, and some of these genes could be new tumor suppressor genes for MMt. Integration of SKY and aCGH data allowed reconstruction of chromosomal rearrangements that led to the formation of HDs. Our data imply that only with acquisition of structural and/or numerical karyotypic instability can MMt cells attain a complete loss of tumor suppressor genes located in 9p21.3, which is the most frequently homozygously deleted region. Tetraploidization is a late event in the karyotypic progression of MMt cells, after HDs in the 9p21.3 region have already been acquired. Published by Elsevier Inc.

What can be done with SPring-8. Features of the facility

International Nuclear Information System (INIS)

Hara, Masahiro

2006-01-01

SPring-8 is the world's largest third-generation synchrotron radiation facility. The definition, features, facility (SPring-8), applications and examples of researches with SR (synchrotron radiation) are explained. SR is characterized by brightness, high directionality and variable polarization. History of facilities of SR is stated. Outline of SPring-8, resources of SR, the specifications, beam line map, brightness of SPring-8 are shown. The examples of researches with SPring-8 contained the refraction-contrast imaging, soft X-ray microscope, XAFS, X-ray topography, photoelectron emission microscopy, atomic structure analysis of protein, MAD method, X-ray fluorescence spectroscopy, lithography and thin film analysis. Operation conditions of the SPring-8 storage ring, interaction between X-ray and materials, the principle of refraction-contrast, measurement of XAFS, Bragg's conditions of X-ray scattering, BL02B2 (beam-line of powder diffraction), BL04B1 and SPEED1500, concept of protein analysis beam-line and MAD method, and spectra of trace analysis of arsenious acid are illustrated. (S.Y.)

Study of the Behavior of Some Spring Barley Lines with Two Rows Created at A.R.D.S Turda Regarding Production Capacity and Quality

Directory of Open Access Journals (Sweden)

Ioana PORUMB

2017-05-01

Full Text Available The spring barley is a variety of a superior quality for brewing compared with the feed barley due to several reasons. Research was conducted in the field of breeding of spring barley with two rows, within ARDS Turda, during 2013-2015. The trials were comparatively developed, and included 25 variants. The biological material was represented by four  autochthonous genotypes: Turdeana, Daciana Romaniţa (A.R.D.S. Turda, and Adina (A.R.D.S. Suceava. The spring barley lines created by the S.C.D.A. Turda, meet the requirements of the beer industry in terms of protein content, starch, M.M.B. and germination energy.

Mapping the end points of large deletions affecting the hprt locus in human peripheral blood cells and cell lines

International Nuclear Information System (INIS)

Nelson, S.L.; Grosovsky, A.J.; Jones, I.M.; Burkhart-Schultz, K.; Fuscoe, J.C.

1995-01-01

We have examined the extent of of HPRT - total gene deletions in three mutant collections: spontaneous and X-ray-induced deletions in TK6 human B lymphoblasts, and HPRT - deletions arising in vivo in T cells. A set of 13 Xq26 STS markers surrounding hprt and spanning approximately 3.3 Mb was used. Each marker used was observed to be missing in at least one of the hprt deletion mutants analyzed. The largest deletion observed encompassed at least 3 Mb. Nine deletions extended outside of the mapped region in the centromeric direction (>1.7 Mb). In contrast, only two telomeric deletions extended to marker 342R (1.26 Mb), and both exhibited slowed or limited cell growth. These data suggest the existence of a gene, within the vicinity of 342R, which establishes the telomeric limit of recoverable deletions. Most (25/41) X-ray-induced total gene deletion mutants exhibited marker loss, but only 1/8 of the spontaneous deletions encompassed any Xq26 markers (P = 0.0187). Furthermore, nearly half (3/8) of the spontaneous 3' total deletion breakpoints were within 14 kb of the hprt coding sequence. In contrast, 40/41 X-ray-induced HPRT - total deletions extended beyond this point (P = 0.011). Although the overall representation of total gene deletions in the in vivo spectrum is low, 4/5 encompass Xq26 markers flanking hprt. This pattern differs significantly from spontaneous HPRT - large deletions occurring in vitro (P = 0.032) but resembles the spectrum of X-ray-induced deletions. 24 refs., 6 figs., 1 tab

Evaluation of Spring Bread Wheat Lines (Triticum aestivum L. and Their Classification by Using Some Agronomic Traits

Directory of Open Access Journals (Sweden)

A .R. Tarinejad

2010-10-01

Full Text Available To obtain superior genotypes from 30 advanced spring bread wheat cultivars a field experiment in RCBD was carried out in 1388. Traits like yield, yield components, harvest index, peduncle length, awn length, number of leaf, plant height, flag leaf area, penultimate leaf area, days to booting, days to spike emergence, days to flowering and physiological maturity were recorded. Analysis of variance showed significant difference among genotypes for the traits measured at %1 probability level. This indicates considerable genetic variations among the lines evaluated lines. Cluster analysis through Ward method, by using all of the traits, grouped lines into three clusters. Eight lines located in third cluster with respect to some traits including grain yield and other important traits like biological yield, number of seed per spike, spike length, peduncle length, plant height, flag leaf area, and number of spike per m² were superior. Factor analysis, five factors discriminated 78.99% of total variation. In this analysis, the first factor could determine 35% of total variation and nominated as effective factor on grain yield. Line with accession number N-75-5 was found to be highest yielding (289.5 g/m2 (as compared with the other lines.

Derivation of the human induced pluripotent stem cell line MUi017-A from a patient with homozygous Hemoglobin Constant Spring

Directory of Open Access Journals (Sweden)

Wasinee Wongkummool

2017-04-01

Full Text Available Hemoglobin Constant Spring (HbCS, HBA2: c.427T>C is a common nondeletional α-thalassemia resulting from a nucleotide substitution at the termination codon of the HBA2 gene. Homozygosity for HbCS is characterized with mild anemia, jaundice, and splenomegaly. In this study, the human induced pluripotent stem cell line MUi017-A was successfully generated from peripheral blood CD34+ hematopoietic progenitors of a 52 year old female with homozygous HbCS. The MUi017-A cell line exhibited embryonic stem cell characteristics with consistent expression of specific pluripotency markers and the capability of differentiating into the three germ layers. The cell line may be used for the disease modeling.

Big George to Carter Mountain 115-kV transmission line project, Park and Hot Springs Counties, Wyoming. Environmental Assessment

Energy Technology Data Exchange (ETDEWEB)

1994-02-01

The Western Area Power Administration (Western) is proposing to rebuild, operate, and maintain a 115-kilovolt (kV) transmission line between the Big George and Carter Mountain Substations in northwest Wyoming (Park and Hot Springs Counties). This environmental assessment (EA) was prepared in compliance with the National Environmental Policy Act (NEPA) and the regulations of the Council on Environmental Quality (CEQ) and the Department of Energy (DOE). The existing Big George to Carter Mountain 69-kV transmission line was constructed in 1941 by the US Department of Interior, Bureau of Reclamation, with 1/0 copper conductor on wood-pole H-frame structures without an overhead ground wire. The line should be replaced because of the deteriorated condition of the wood-pole H-frame structures. Because the line lacks an overhead ground wire, it is subject to numerous outages caused by lightning. The line will be 54 years old in 1995, which is the target date for line replacement. The normal service life of a wood-pole line is 45 years. Under the No Action Alternative, no new transmission lines would be built in the project area. The existing 69-kV transmission line would continue to operate with routine maintenance, with no provisions made for replacement.

Evaluation of Spring Bread Wheat Lines (Triticum aestivum L. and Their Classification by Using Some Agronomic Traits

Directory of Open Access Journals (Sweden)

A. Daryani

2011-06-01

Full Text Available To obtain superior genotypes from 30 advanced spring bread wheat cultivars a field experiment in RCBD was carried out in 1388. Traits like yield, yield components, harvest index, peduncle length, awn length, number of leaf, plant height, flag leaf area, penultimate leaf area, days to booting, days to spike emergence, days to flowering and physiological maturity were recorded. Analysis of variance showed significant difference among genotypes for the traits measured at %1 probability level. This indicates considerable genetic variations among the lines evaluated. Cluster analysis of traits measured, grouped lines into three categories. Eight lines were located in third cluster with respect to some traits including grain yield and other important traits like biological yield, number of seed per spike, spike length, peduncle length, plant height, flag leaf area, and number of spike per m² were found to be superior. By using factor analysis, five factors determined 78.99% of total variation. In this analysis, the first factor could account for 35% of total variation and nominated as effective factor on grain yield. Line with accession number of N-75-5 was found to be highest yielding (289.5 g/m2 (as compared with the other lines.

PTEN and DMBT1 homozygous deletion and expression in medulloblastomas and supratentorial primitive neuroectodermal tumors.

Science.gov (United States)

Inda, María Mar; Mercapide, Javier; Muñoz, Jorge; Coullin, Philippe; Danglot, Giséle; Tuñon, Teresa; Martínez-Peñuela, José María; Rivera, José María; Burgos, Juan J; Bernheim, Alain; Castresana, Javier S

2004-12-01

Medulloblastoma, which accounts for 20-25% of all childhood brain tumors, is defined as a primitive neuroectodermal tumor (PNET) located in the cerebellum. Supratentorial PNET are less frequent than medulloblastoma. But their clinical outcome is worse than in medulloblastomas. Chromosome 10q contains at least 2 tumor suppressor genes that might play a role in brain tumor development: PTEN and DMBT1. The aim of this study was to compare the status of homozygous deletion and expression of PTEN and DMBT1 genes in PNET primary tumor samples and cell lines. Homozygous deletions of PTEN and DMBT1 were studied in 32 paraffin-embedded PNET samples (23 medulloblastomas and 9 supratentorial PNET) and in 7 PNET cell lines, by differential PCR and by FISH. PTEN homozygous losses were demonstrated in 7 medulloblastomas (32%) and in no supratentorial PNET, while homozygous deletions of DMBT1 appeared in 1 supratentorial PNET (20%) and in 7 medulloblastomas (33%). No homozygous deletion of PTEN or DMBT1 was detected in any of the PNET cell lines either by differential PCR or by FISH. Expression study of the 2 genes was performed in the 7 PNET cell lines by RT-PCR. One PNET cell line lacked PTEN and DMBT1 expression, while 2 medulloblastoma cell lines did not express DMBT1. Our results add some positive data to the hypothesis that supratentorial PNETs and medulloblastomas might be genetically different.

Multiscale Mass-Spring Models of Carbon Nanotube Foams

Science.gov (United States)

2010-09-06

Rev. 8-98) Prescribed by ANSI Std Z39-18 Graphical abstract (movie) Axial strain localization in a mesoscopic chain of five bistable springs. The...line). Graphical Abstract Research highlights • Axial strain localization in microscopic bistable spring chains mimics kink- ing of compressed carbon

A Population of Deletion Mutants and an Integrated Mapping and Exome-seq Pipeline for Gene Discovery in Maize

Science.gov (United States)

Jia, Shangang; Li, Aixia; Morton, Kyla; Avoles-Kianian, Penny; Kianian, Shahryar F.; Zhang, Chi; Holding, David

2016-01-01

To better understand maize endosperm filling and maturation, we used γ-irradiation of the B73 maize reference line to generate mutants with opaque endosperm and reduced kernel fill phenotypes, and created a population of 1788 lines including 39 Mo17 × F2s showing stable, segregating, and viable kernel phenotypes. For molecular characterization of the mutants, we developed a novel functional genomics platform that combined bulked segregant RNA and exome sequencing (BSREx-seq) to map causative mutations and identify candidate genes within mapping intervals. To exemplify the utility of the mutants and provide proof-of-concept for the bioinformatics platform, we present detailed characterization of line 937, an opaque mutant harboring a 6203 bp in-frame deletion covering six exons within the Opaque-1 gene. In addition, we describe mutant line 146 which contains a 4.8 kb intragene deletion within the Sugary-1 gene and line 916 in which an 8.6 kb deletion knocks out a Cyclin A2 gene. The publically available algorithm developed in this work improves the identification of causative deletions and its corresponding gaps within mapping peaks. This study demonstrates the utility of γ-irradiation for forward genetics in large nondense genomes such as maize since deletions often affect single genes. Furthermore, we show how this classical mutagenesis method becomes applicable for functional genomics when combined with state-of-the-art genomics tools. PMID:27261000

Molecular evidence for the induction of large interstitial deletions on mouse chromosome 8 by ionizing radiation

International Nuclear Information System (INIS)

Turker, Mitchell S.; Pieretti, Maura; Kumar, Sudha

1997-01-01

The P19H22 mouse embryonal carcinoma cell line is characterized by a hemizygous deficiency for the chromosome 8 encoded aprt (adenine phosphoribosyltransferase) gene and heterozygosity for many chromosome 8 loci. We have previously demonstrated that this cell line is suitable for mutational studies because it is permissive of events ranging in size from base-pair substitutions at the aprt locus to apparent loss of chromosome 8. Large mutational events, defined by loss of the remaining aprt allele, were found to predominate in spontaneous mutants and those induced by ionizing radiation. In this study we have used a PCR based assay to screen for loss of heterozygosity at microsatellite loci both proximal and distal to aprt in 137 Cs-induced and spontaneous aprt mutants. This approach allowed us to distinguish apparent interstitial deletional events from apparent recombinational events. Significantly, 32.5% (26 of 80) of the mutational events induced by 137 Cs appeared to be interstitial deletions as compared with 7.7% (6 of 78) in the spontaneous group. This difference was statistically significant (p 137 Cs caused a significant number of deletion mutations. Most 137 Cs-induced interstitial deletions were larger than 6 cM, whereas none of the spontaneous deletions were larger than 6 cM. These results provide further support for the notion that ionizing radiation induces deletion mutations and validate the use of the P19H22 cell line for the study of events induced by ionizing radiation

A recombinant E1-deleted porcine adenovirus-3 as an expression vector

International Nuclear Information System (INIS)

Zakhartchouk, Alexander; Zhou Yan; Tikoo, Suresh Kumar

2003-01-01

Replication-defective E1-deleted porcine adenoviruses (PAVs) are attractive vectors for vaccination. As a prerequisite for generating PAV-3 vectors containing complete deletion of E1, we transfected VIDO R1 cells (fetal porcine retina cells transformed with E1 region of human adenovirus 5) with a construct containing PAV-3 E1B large coding sequences under the control of HCMV promoter. A cell line named VR1BL could be isolated that expressed E1B large of PAV-3 and also complemented PAV214 (E1A+E1B small deleted). The VR1BL cells could be efficiently transfected with DNA and allowed the rescue and propagation of recombinant PAV507 containing a triple stop codon inserted in the E1B large coding sequence. In addition, recombinant PAV227 containing complete deletion of E1 (E1A+E1B small + E1B large ) could be successfully rescued using VR1BL cell line. Recombinant PAV227 replicated as efficiently as wild-type in VR1BL cells but not in VIDO R1 cells, suggesting that E1B large was essential for replication of PAV-3. Next, we constructed recombinant PAV219 by inserting green fluorescent (GFP) protein gene flanked by a promoter and a poly(A) in the E1 region of the PAV227 genome. We demonstrated that PAV219 was able to transduce and direct expression of GFP in some human cell lines

A Catalog of Genes Homozygously Deleted in Human Lung Cancer and the Candidacy of PTPRD as a Tumor Suppressor Gene

Science.gov (United States)

Kohno, Takashi; Otsuka, Ayaka; Girard, Luc; Sato, Masanori; Iwakawa, Reika; Ogiwara, Hideaki; Sanchez-Cespedes, Montse; Minna, John D.; Yokota, Jun

2010-01-01

A total of 176 genes homozygously deleted in human lung cancer were identified by DNA array-based whole genome scanning of 52 lung cancer cell lines and subsequent genomic PCR in 74 cell lines, including the 52 cell lines scanned. One or more exons of these genes were homozygously deleted in one (1%) to 20 (27%) cell lines. These genes included known tumor suppressor genes, e.g., CDKN2A/p16, RB1, and SMAD4, and candidate tumor suppressor genes whose hemizygous or homozygous deletions were reported in several types of human cancers, such as FHIT, KEAP1, and LRP1B/LRP-DIP. CDKN2A/p16 and p14ARF located in 9p21 were most frequently deleted (20/74, 27%). The PTPRD gene was most frequently deleted (8/74, 11%) among genes mapping to regions other than 9p21. Somatic mutations, including a nonsense mutation, of the PTPRD gene were detected in 8/74 (11%) of cell lines and 4/95 (4%) of surgical specimens of lung cancer. Reduced PTPRD expression was observed in the majority (>80%) of cell lines and surgical specimens of lung cancer. Therefore, PTPRD is a candidate tumor suppressor gene in lung cancer. Microarray-based expression profiling of 19 lung cancer cell lines also indicated that some of the 176 genes, such as KANK and ADAMTS1, are preferentially inactivated by epigenetic alterations. Genetic/epigenetic as well as functional studies of these 176 genes will increase our understanding of molecular mechanisms behind lung carcinogenesis. PMID:20073072

Genome-Wide Estimates of Transposable Element Insertion and Deletion Rates in Drosophila Melanogaster

Science.gov (United States)

Adrion, Jeffrey R.; Song, Michael J.; Schrider, Daniel R.; Hahn, Matthew W.

2017-01-01

Abstract Knowing the rate at which transposable elements (TEs) insert and delete is critical for understanding their role in genome evolution. We estimated spontaneous rates of insertion and deletion for all known, active TE superfamilies present in a set of Drosophila melanogaster mutation-accumulation (MA) lines using whole genome sequence data. Our results demonstrate that TE insertions far outpace TE deletions in D. melanogaster. We found a significant effect of background genotype on TE activity, with higher rates of insertions in one MA line. We also found significant rate heterogeneity between the chromosomes, with both insertion and deletion rates elevated on the X relative to the autosomes. Further, we identified significant associations between TE activity and chromatin state, and tested for associations between TE activity and other features of the local genomic environment such as TE content, exon content, GC content, and recombination rate. Our results provide the most detailed assessment of TE mobility in any organism to date, and provide a useful benchmark for both addressing theoretical predictions of TE dynamics and for exploring large-scale patterns of TE movement in D. melanogaster and other species. PMID:28338986

[The influence of combinations of alien translocations on in vitro androgenesis in near-isogenic lines of spring bread wheat].

Science.gov (United States)

Sibikeeva, Yu E; Sibikeev, S N

2014-07-01

The features of in vitro androgenesis were studied in Cultured anthers of spring bread wheats L503 and Dobrynya, having 7DS-7DL-7Ae#1 L translocation with genes Lrl9/Sr25 (Lrl9 translocation) from Agropyron elongatum (Host.) P.B. and their near-isogenic lines carrying combinations of Lrl9 translocation with translocations: 1BL-IR#1S with genes Pm8/Sr31/Lr26/Yr9 (Lr26translocation) from Secale cereal L., 4BS-4BL-2R#1L with genes Lr25/Pm7 (Lr25 translocation) from Secale cereal, 3DS-3DL-3Ae#1L with genes Lr24/Sr24 (Lr24 translocation) from Agropyron elongatum and 6BS-6BL-6U#1L with gene Lr9 (Lr9 translocation) from Aegilops umbellulata Zhuk. In comparison with those varieties having received the Lrl9 translocation, the following was established: (1) the combination of translocations Lr19+26 increased embryo frequency and green plant regeneration; (2) the combination of translocations Lr19+9 decreased embryo frequency but increased green plant regeneration; (3) the combination of translocations Lr19+24 decreased embryo frequency but increased green and albino plant regeneration; (4) the combination of translocations Lr19+25 increased embryo frequency and green plant regeneration but decreased albino plant regeneration. Thus, on near-isogenic lines of spring bread wheat, the influences of genotypes of four alien translocation combinations on in vitro androgenesis were determined.

Deletion analysis of susy-sl promoter for the identification of optimal promoter sequence

International Nuclear Information System (INIS)

Bacha, S.; Khatoon, A.; Asif, M.; Bshir, A.

2015-01-01

The promoter region of sucrose synthase (susy-Sl) was identified and isolated from tomato. The 5? deletion analysis was carried out for the identification of minimum optimal promoter. Transgenic lines of Arabidopsis thaliana were developed by floral dip method incorporating various promoter deletion cassettes controlling GUS reporter gene. GUS assay of transgenic tissues indicated that full length susy-Sl promoter and its deletion mutants were constitutively expressed in vegetative and floral tissues of A. thaliana. The expression was observed in roots, shoots and flowers of A. thaliana. Analysis of 5? deletion series of susy-Sl promoter showed that a minimum of 679 bp fragment of the promoter was sufficient to drive expression of GUS reporter gene in the major tissues of transgenic A. thaliana. (author)

Spring in the Arab Spring

NARCIS (Netherlands)

Borg, G.J.A.

2011-01-01

Column Gert Borg | Spring in the Arab Spring door dr. Gert Borg, onderzoeker bij Islam en Arabisch aan de Radboud Universiteit Nijmegen en voormalig directeur van het Nederlands-Vlaams Instituut Caïro Spring If, in Google, you type "Arab Spring" and hit the button, you get more than

Conditional deletion of Pten causes bronchiolar hyperplasia.

Science.gov (United States)

Davé, Vrushank; Wert, Susan E; Tanner, Tiffany; Thitoff, Angela R; Loudy, Dave E; Whitsett, Jeffrey A

2008-03-01

Tumor suppressor phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a lipid phosphatase that regulates multiple cellular processes including cell polarity, migration, proliferation, and carcinogenesis. In this work, we demonstrate that conditional deletion of Pten (Pten(Delta/Delta)) in the respiratory epithelial cells of the developing mouse lung caused epithelial cell proliferation and hyperplasia as early as 4 to 6 weeks of age. While bronchiolar cell differentiation was normal, as indicated by beta-tubulin and FOXJ1 expression in ciliated cells and by CCSP expression in nonciliated cells, cell proliferation (detected by expression of Ki-67, phospho-histone-H3, and cyclin D1) was increased and associated with activation of the AKT/mTOR survival pathway. Deletion of Pten caused papillary epithelial hyperplasia characterized by a hypercellular epithelium lining papillae with fibrovascular cores that protruded into the airway lumens. Cell polarity, as assessed by subcellular localization of cadherin, beta-catenin, and zonula occludens-1, was unaltered. PTEN is required for regulation of epithelial cell proliferation in the lung and for the maintenance of the normal simple columnar epithelium characteristics of bronchi and bronchioles.

Wheat Quality Council, Hard Spring Wheat Technical Committee, 2017 Crop

Science.gov (United States)

Nine experimental lines of hard spring wheat were grown at up to six locations in 2017 and evaluated for kernel, milling, and bread baking quality against the check variety Glenn. Wheat samples were submitted through the Wheat Quality Council and processed and milled at the USDA-ARS Hard Red Spring...

Hb H Hydrops Fetalis Syndrome Caused by Association of the - -(SEA) Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese Family.

Science.gov (United States)

He, Sheng; Zheng, Chenguang; Meng, Dahua; Chen, Rongyu; Zhang, Qiang; Tian, Xiaoxian; Chen, Shaoke

2015-01-01

Hb Constant Spring (Hb CS; HBA2: c.427T > C) is an unstable hemoglobin (Hb) variant that results from a nucleotide substitution at the termination codon of the α2-globin gene. Compound heterozygosity for α(0)-thalassemia (α(0)-thal) and Hb CS (- -(SEA)/α(CS)α) results in Hb H/Hb CS disease, which is generally characterized with mild hemolytic anemia, jaundice, and splenomegaly. Here, we describe one case with Hb H/Hb CS disease that presented with fetal anemia and fetal hydrops, known as Hb H (β4) hydrops fetalis. This is the first report of fetal hydrops caused by association of the - -(SEA) deletion and the α(CS)α mutation. Our study highlights the significance of watchful observation using a serial ultrasound method and care of pregnant women who have fetuses found to carry Hb H/Hb CS disease during pregnancy, to guard against the occurrence of fetal hydrops.

New spring wheat varieties ‘Panianka’ and ‘Diana’

Directory of Open Access Journals (Sweden)

О. А. Демидов

2016-12-01

Full Text Available Purpose. To create new competitive spring wheat varieties. Methods. Field study, laboratory test. Results. Based on the competitive variety trial, bread spring wheat line ‘Lutescens 07-26’ has been selected due to high values of such traits as resistance to fungal diseases, grain qua­lity(protein content accounted for 15.0%, 1000 kernel weight (44.6 g productivity (3.92 t/ha and lodging resistance (9 points. In 2011, it was submitted to the State variety testing as ‘Panianka’ variety. Durum spring wheat line ‘Leukurum 08-11’ was characterized by a number of positive traits: quite a high productivity (3.05 t/ha, short stem (79 cm, resistance to fungal diseases and lodging(9 points, and in 2011 it was submitted to the State variety testing as ‘Diana’ variety. According to the results of the State variety testing in 2012–2014, spring wheat varieties ‘Panianka’ and ‘Diana’ in 2015 were put on the State Register of plant varieties suitable for dissemination in Ukraine. Conclusions. For farms in Forest-Steppe and Polissia zones of Ukraine, bread and durum spring wheat varieties were bred by V. M.Remeslo Myronivka Institute of Wheat of NAAS of Ukraine that demonstrated rather high potential of productivity and adaptability to stress conditions. This goes to prove that cultivation of domestic spring wheat varieties will promote formation of high and quality grain yields.

Spring-recharging in the Himalayas

International Nuclear Information System (INIS)

Joshi, Anil P.

2009-01-01

in the settlement of mountain villages in the Himalayas. In fact, in many places, it was the single factor that determined the location of the villages and naturally rainwater has been the source which recharge the catchments of the springs. Forest cover keeps these catchment areas alive for the slow and constant recharging of the springs. In the recent past due to continuous deforestation, the catchment areas have been drastically reduced. Eventually, these denuded lands were unable to conserve water, which has resulted in the drying-up and dying of many mountain springs. Certainly, this became a major threat to both the natural habitats of the springs, as well as to the survival of the communities. In order to meet the water needs of the villages, the government-development agencies devised a distribution system in which water was diverted from regions with an adequate supply to those deprived of water. This approach to remedy the water shortage brought about significant water conflicts, as the rights to water resources were not well defined. This system also did not adequately address water-management and distribution lines for the water resources

Geothermal energy and hot springs in Ethiopia

Energy Technology Data Exchange (ETDEWEB)

Koga, T. (Hot Springs Therapeutics Research Institute, Kyushu, Univ., Japan)

1971-01-01

The hot springs in Ethiopia are concentrated in two areas: the North Afar depression and adjacent Red Sea shore, and a geothermal field 100 km from northeast to southwest in the central part of Ethiopia. The latter extends not only to the Great Rift Valley but also to the Aden Gulf. In the lake district in the central Great Rift Valley, there are a number of hot springs on the lake shore. These are along NE-SW fault lines, and the water is a sodium bicarbonate-type rich in HCO/sub 3/ and Na but low in C1 and Ca. In Dallol in the North Afar depression, CO/sub 2/-containing hot springs with high temperatures (110/sup 0/C) and a specific gravity of 1.4, were observed. In the South Afar depression, located in the northeastern part of the Rift Valley, there are many active volcanoes and hot springs between the lake district and the Danakil depression. The spring water is a sodium bicarbonate saline type. Nine graphs and maps are included.

Spring performance tester for miniature extension springs

Science.gov (United States)

Salzbrenner, Bradley; Boyce, Brad

2017-05-16

A spring performance tester and method of testing a spring are disclosed that has improved accuracy and precision over prior art spring testers. The tester can perform static and cyclic testing. The spring tester can provide validation for product acceptance as well as test for cyclic degradation of springs, such as the change in the spring rate and fatigue failure.

Histone Deacetylase 3 Inhibition Overcomes BIM Deletion Polymorphism-Mediated Osimertinib Resistance in EGFR-Mutant Lung Cancer.

Science.gov (United States)

Tanimoto, Azusa; Takeuchi, Shinji; Arai, Sachiko; Fukuda, Koji; Yamada, Tadaaki; Roca, Xavier; Ong, S Tiong; Yano, Seiji

2017-06-15

Purpose: The BIM deletion polymorphism is associated with apoptosis resistance to EGFR tyrosine kinase inhibitors (EGFR-TKI), such as gefitinib and erlotinib, in non-small cell lung cancer (NSCLC) harboring EGFR mutations. Here, we investigated whether the BIM deletion polymorphism contributes to resistance against osimertinib, a third-generation EGFR-TKI. In addition, we determined the efficacy of a histone deacetylase (HDAC) inhibitor, vorinostat, against this form of resistance and elucidated the underlying mechanism. Experimental Design: We used EGFR -mutated NSCLC cell lines, which were either heterozygous or homozygous for the BIM deletion polymorphism, to evaluate the effect of osimertinib in vitro and in vivo Protein expression was examined by Western blotting. Alternative splicing of BIM mRNA was analyzed by RT-PCR. Results: EGFR -mutated NSCLC cell lines with the BIM deletion polymorphism exhibited apoptosis resistance to osimertinib in a polymorphism dosage-dependent manner, and this resistance was overcome by combined use with vorinostat. Experiments with homozygous BIM deletion-positive cells revealed that vorinostat affected the alternative splicing of BIM mRNA in the deletion allele, increased the expression of active BIM protein, and thereby induced apoptosis in osimertinib-treated cells. These effects were mediated predominantly by HDAC3 inhibition. In xenograft models, combined use of vorinostat with osimertinib could regress tumors in EGFR -mutated NSCLC cells homozygous for the BIM deletion polymorphism. Moreover, this combination could induce apoptosis even when tumor cells acquired EGFR -T790M mutations. Conclusions: These findings indicate the importance of developing HDAC3-selective inhibitors, and their combined use with osimertinib, for treating EGFR -mutated lung cancers carrying the BIM deletion polymorphism. Clin Cancer Res; 23(12); 3139-49. ©2016 AACR . ©2016 American Association for Cancer Research.

Using data mining and OLAP to discover patterns in a database of patients with Y-chromosome deletions.

Science.gov (United States)

Dzeroski, S; Hristovski, D; Peterlin, B

2000-01-01

The paper presents a database of published Y chromosome deletions and the results of analyzing the database with data mining techniques. The database describes 382 patients for which 177 different markers were tested: 364 of the 382 patients had deletions. Two data mining techniques, clustering and decision tree induction were used. Clustering was used to group patients according to the overall presence/absence of deletions at the tested markers. Decision trees and On-Line-Analytical-Processing (OLAP) were used to inspect the resulting clustering and look for correlations between deletion patterns, populations and the clinical picture of infertility. The results of the analysis indicate that there are correlations between deletion patterns and patient populations, as well as clinical phenotype severity.

MET gene exon 14 deletion created using the CRISPR/Cas9 system enhances cellular growth and sensitivity to a MET inhibitor.

Science.gov (United States)

Togashi, Yosuke; Mizuuchi, Hiroshi; Tomida, Shuta; Terashima, Masato; Hayashi, Hidetoshi; Nishio, Kazuto; Mitsudomi, Tetsuya

2015-12-01

MET splice site mutations resulting in an exon 14 deletion have been reported to be present in about 3% of all lung adenocarcinomas. Patients with lung adenocarcinoma and a MET splice site mutation who have responded to MET inhibitors have been reported. The CRISPR/Cas9 system is a recently developed genome-engineering tool that can easily and rapidly cause small insertions or deletions. We created an in vitro model for MET exon 14 deletion using the CRISPR/Cas9 system and the HEK293 cell line. The phenotype, which included MET inhibitor sensitivity, was then investigated in vitro. Additionally, MET splice site mutations were analyzed in several cancers included in The Cancer Genome Atlas (TCGA) dataset. An HEK293 cell line with a MET exon 14 deletion was easily and rapidly created; this cell line had a higher MET protein expression level, enhanced MET phosphorylation, and prolonged MET activation. In addition, a direct comparison of phenotypes using this system demonstrated enhanced cellular growth, colony formation, and MET inhibitor sensitivity. In the TCGA dataset, lung adenocarcinomas had the highest incidence of MET exon 14 deletions, while other cancers rarely carried such mutations. Approximately 10% of the lung adenocarcinoma samples without any of driver gene alterations carried the MET exon 14 deletion. These findings suggested that this system may be useful for experiments requiring the creation of specific mutations, and the present experimental findings encourage the development of MET-targeted therapy against lung cancer carrying the MET exon 14 deletion. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Thermal algae in certain radioactive springs in Japan, (3)

International Nuclear Information System (INIS)

Mifune, Masaaki; Hirose, Hiroyuki.

1982-01-01

Shikano Hot Springs are located at five km to the south of Hamamura Station on the Sanin Line in Tottori Prefecture. The water temperature and the pH of the springs are 40.2 - 61.2 0 C, and 7.5 - 7.8, respectively. They belong to simple thermals. Hamamura Hot Springs are located in the neighbourhood of Hamamura Station. The highest radon content of the hot springs is 175.1 x 10 -10 Ci/l, and the great part of the springs belong to radioactive ones. From the viewpoint of the major ionic constituents, they are also classified under weak salt springs, sulfated salt springs, and simple thermals. Regarding the habitates of the algal flora, the water temperature and the pH of the springs are 28.0 - 68.0 0 C, and 6.8 - 7.4, respectively. The thermal algae found by Ikoma and Doi at Hamamura Hot Springs were two species of Cyanophyceae. By the authors, nine species and one variety of Cyanophyceae including Ikoma and Doi's two species were newly found at Shikano and Hamamura Hot Springs. Chlorophyceous alga was not found. The dominant thermal algae of these hot springs were Mastigocladus laminosus, and the other algae which mainly consist of Oscillatoriaceous algae. From these points, it seems that the thermal algae of Shikano and Hamamura Hot Springs belong to the normal type of thermal algae, and they are different from the thermal algae of Ikeda Mineral Springs and Masutomi Hot Springs which belong to strongly radioactive springs. (author)

The HDAC inhibitor SB939 overcomes resistance to BCR-ABL kinase Inhibitors conferred by the BIM deletion polymorphism in chronic myeloid leukemia.

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Muhammad Rauzan

Full Text Available Chronic myeloid leukemia (CML treatment has been improved by tyrosine kinase inhibitors (TKIs such as imatinib mesylate (IM but various factors can cause TKI resistance in patients with CML. One factor which contributes to TKI resistance is a germline intronic deletion polymorphism in the BCL2-like 11 (BIM gene which impairs the expression of pro-apoptotic splice isoforms of BIM. SB939 (pracinostat is a hydroxamic acid based HDAC inhibitor with favorable pharmacokinetic, physicochemical and pharmaceutical properties, and we investigated if this drug could overcome BIM deletion polymorphism-induced TKI resistance. We found that SB939 corrects BIM pre-mRNA splicing in CML cells with the BIM deletion polymorphism, and induces apoptotic cell death in CML cell lines and primary cells with the BIM deletion polymorphism. More importantly, SB939 both decreases the viability of CML cell lines and primary CML progenitors with the BIM deletion and restores TKI-sensitivity. Our results demonstrate that SB939 overcomes BIM deletion polymorphism-induced TKI resistance, and suggest that SB939 may be useful in treating CML patients with BIM deletion-associated TKI resistance.

Research and development activity for the construction of beam lines in spring-8 (a new 8GeV SR ring)

International Nuclear Information System (INIS)

Watanabe, Tsutomu; Ohno, Hideo; Iwasaki, Hitoshi; Sasaki, Teikichi

1990-01-01

A research and development activity for a new large-scale synchrotron radiation facility started in Japan in 1987. The Institute of Physical and Chemical Research (RIKEN) and Japan Atomic Energy Research Institute (JAERI) have been participating this project. In particular, a joint team for this SR project was formed in 1988 to perform efficient research and development activities in cooperation. The new facility is scheduled to be in normal operation in 1998. The maximum energy of the electron or positron beams in the storage ring (SPring-8) is planned to be 8 GeV. The present report particularly describes the beam line front-end, research and development of optical components, beam lines for radioactive materials, insertion devices, activities of the atomic physics group, double focusing monochromator for macromolecular crystallography, preceding studies on magnetic and Compton scattering, EXAFS and XANES studies of biopolymers, studies on surface properties, and applications. (N.K.)

The fate of deleted DNA produced during programmed genomic deletion events in Tetrahymena thermophila.

Science.gov (United States)

Saveliev, S V; Cox, M M

1994-01-01

Thousands of DNA deletion events occur during macronuclear development in the ciliate Tetrahymena thermophila. In two deleted genomic regions, designated M and R, the eliminated sequences form circles that can be detected by PCR. However, the circles are not normal products of the reaction pathway. The circular forms occur at very low levels in conjugating cells, but are stable. Sequencing analysis showed that many of the circles (as many as 50% of those examined) reflected a precise deletion in the M and R regions. The remaining circles were either smaller or larger and contained varying lengths of sequences derived from the chromosomal DNA surrounding the eliminated region. The chromosomal junctions left behind after deletion were more precise, although deletions in either the M or R regions can generate any of several alternative junctions (1). Some new chromosomal junctions were detected in the present study. The results suggest that the deleted segment is released as a linear DNA species that is degraded rapidly. The species is only rarely converted to the stable circles we detect. The deletion mechanism is different from those proposed for deletion events in hypotrichous ciliates (2-4), and does not reflect a conservative site-specific recombination process such as that promoted by the bacteriophage lambda integrase (5). Images PMID:7838724

Whole genome HBV deletion profiles and the accumulation of preS deletion mutant during antiviral treatment

Science.gov (United States)

2012-01-01

Background Hepatitis B virus (HBV), because of its error-prone viral polymerase, has a high mutation rate leading to widespread substitutions, deletions, and insertions in the HBV genome. Deletions may significantly change viral biological features complicating the progression of liver diseases. However, the clinical conditions correlating to the accumulation of deleted mutants remain unclear. In this study, we explored HBV deletion patterns and their association with disease status and antiviral treatment by performing whole genome sequencing on samples from 51 hepatitis B patients and by monitoring changes in deletion variants during treatment. Clone sequencing was used to analyze preS regions in another cohort of 52 patients. Results Among the core, preS, and basic core promoter (BCP) deletion hotspots, we identified preS to have the highest frequency and the most complex deletion pattern using whole genome sequencing. Further clone sequencing analysis on preS identified 70 deletions which were classified into 4 types, the most common being preS2. Also, in contrast to the core and BCP regions, most preS deletions were in-frame. Most deletions interrupted viral surface epitopes, and are possibly involved in evading immuno-surveillance. Among various clinical factors examined, logistic regression showed that antiviral medication affected the accumulation of deletion mutants (OR = 6.81, 95% CI = 1.296 ~ 35.817, P = 0.023). In chronic carriers of the virus, and individuals with chronic hepatitis, the deletion rate was significantly higher in the antiviral treatment group (Fisher exact test, P = 0.007). Particularly, preS2 deletions were associated with the usage of nucleos(t)ide analog therapy (Fisher exact test, P = 0.023). Dynamic increases in preS1 or preS2 deletions were also observed in quasispecies from samples taken from patients before and after three months of ADV therapy. In vitro experiments demonstrated that preS2 deletions alone

A Large PROP1 Gene Deletion in a Turkish Pedigree

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Suheyla Gorar

2018-01-01

Full Text Available Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and corticotropes. We performed genetic analysis of PROP1 gene in a Turkish pedigree with three siblings who presented with short stature. Parents were first degree cousins. Index case, a boy, had somatotrope, gonadotrope, thyrotrope, and corticotrope deficiency. However, two elder sisters had somatotroph, gonadotroph, and thyrotroph deficiency and no corticotroph deficiency. On pituitary magnetic resonance, partial empty sella was detected with normal bright spot in all siblings. In genetic analysis, we found a gross deletion involving PROP1 coding region. In conclusion, we report three Turkish siblings with a gross deletion in PROP1 gene. Interestingly, although little boy with combined pituitary hormone deficiency has adrenocorticotropic hormone (ACTH deficiency, his elder sisters with the same gross PROP1 deletion have no ACTH deficiency. This finding is in line with the fact that patients with PROP1 mutations may have different phenotype/genotype correlation.

A nine-nucleotide deletion and splice variation in the coding region of the interferon induced ISG12 gene

DEFF Research Database (Denmark)

Smidt, Kamille; Hansen, Lise Lotte; Søgaard, T Max M

2003-01-01

distributed between ISG12 and ISG12-S in breast carcinoma cells, in cancer cell lines and in cervical cytobrush material with neoplastic lesions. In addition, we have found a nine-nucleotide deletion situated in exon 4 of the ISG12 gene. This deletion leads to a three-amino-acid deletion (AMA) in the putative...... ISG12 gene products, ISG12Δ and ISG12-SΔ. We have determined the prevalence of the deletion ISG12Δ in normal and neoplastic cells. Homozygosity ISG12(0/0) and ISG12(Δ/Δ), and heterozygosity ISG12(0/Δ) were found, although the ISG12(Δ/Δ) genotype was rare. In heterozygous cells from cytobrush material...

Schizophrenia and chromosomal deletions

Energy Technology Data Exchange (ETDEWEB)

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

1995-06-01

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

Deletion of ultraconserved elements yields viable mice

Energy Technology Data Exchange (ETDEWEB)

Ahituv, Nadav; Zhu, Yiwen; Visel, Axel; Holt, Amy; Afzal, Veena; Pennacchio, Len A.; Rubin, Edward M.

2007-07-15

Ultraconserved elements have been suggested to retainextended perfect sequence identity between the human, mouse, and ratgenomes due to essential functional properties. To investigate thenecessities of these elements in vivo, we removed four non-codingultraconserved elements (ranging in length from 222 to 731 base pairs)from the mouse genome. To maximize the likelihood of observing aphenotype, we chose to delete elements that function as enhancers in amouse transgenic assay and that are near genes that exhibit markedphenotypes both when completely inactivated in the mouse as well as whentheir expression is altered due to other genomic modifications.Remarkably, all four resulting lines of mice lacking these ultraconservedelements were viable and fertile, and failed to reveal any criticalabnormalities when assayed for a variety of phenotypes including growth,longevity, pathology and metabolism. In addition more targeted screens,informed by the abnormalities observed in mice where genes in proximityto the investigated elements had been altered, also failed to revealnotable abnormalities. These results, while not inclusive of all thepossible phenotypic impact of the deleted sequences, indicate thatextreme sequence constraint does not necessarily reflect crucialfunctions required for viability.

Deletion mutations of bacteriophage

International Nuclear Information System (INIS)

Ryo, Yeikou

1975-01-01

Resolution of mutation mechanism with structural changes of DNA was discussed through the studies using bacteriophage lambda. One of deletion mutations inductions of phage lambda is the irradiation of ultraviolet ray. It is not clear if the inductions are caused by errors in reparation of ultraviolet-induced damage or by the activation of int gene. Because the effective site of int gene lies within the regions unnecessary for existing, it is considered that int gene is connected to deletion mutations induction. A certain system using prophage complementarity enables to detect deletion mutations at essential hereditary sites and to solve the relations of deletion mutations with other recombination system, DNA reproduction and repairment system. Duplication and multiplication of hereditary elements were discussed. If lambda deletion mutations of the system, which can control recombination, reproduction and repairment of added DNA, are constructed, mutations mechanism with great changes of DNA structure can be solved by phage lambda. (Ichikawa, K.)

A persistent mitochondrial deletion reduces fitness and sperm performance in heteroplasmic populations of C. elegans

Directory of Open Access Journals (Sweden)

Chin Kara

2007-03-01

Full Text Available Abstract Background Mitochondrial DNA (mtDNA mutations are of increasing interest due to their involvement in aging, disease, fertility, and their role in the evolution of the mitochondrial genome. The presence of reactive oxygen species and the near lack of repair mechanisms cause mtDNA to mutate at a faster rate than nuclear DNA, and mtDNA deletions are not uncommon in the tissues of individuals, although germ-line mtDNA is largely lesion-free. Large-scale deletions in mtDNA may disrupt multiple genes, and curiously, some large-scale deletions persist over many generations in a heteroplasmic state. Here we examine the phenotypic effects of one such deletion, uaDf5, in Caenorhabditis elegans (C. elegans. Our study investigates the phenotypic effects of this 3 kbp deletion. Results The proportion of uaDf5 chromosomes in worms was highly heritable, although uaDf5 content varied from worm to worm and within tissues of individual worms. We also found an impact of the uaDf5 deletion on metabolism. The deletion significantly reduced egg laying rate, defecation rate, and lifespan. Examination of sperm bearing the uaDf5 deletion revealed that sperm crawled more slowly, both in vitro and in vivo. Conclusion Worms harboring uaDf5 are at a selective disadvantage compared to worms with wild-type mtDNA. These effects should lead to the rapid extinction of the deleted chromosome, but it persists indefinitely. We discuss both the implications of this phenomenon and the possible causes of a shortened lifespan for uaDf5 mutant worms.

[Asymmetric confusability effects in recognition memory of line drawings].

Science.gov (United States)

Uchino, Y; Hakoda, Y; Yamada, N

2000-06-01

Experiment 1 and 2 examined the effect of addition or deletion changes in a picture recognition test. Addition and deletion applied to original pictures were referred to deviation change, and addition to deleted pictures or deletion from added pictures was referred to restoration change. In Experiment 1 (n = 40), elaborative detailed information contained in line drawings of scenes was changed whereas one of major features in a single object was changed in Experiment 2 (n = 36). In the test phase, participants indicated whether each test picture was changed or not from the picture they had seen in the study phase. Deviation change had a greater effect on detection performance than restoration only in Experiment 2. Additions were easily detected than deletions only in deviation change in Experiment 2. In Experiment 3, 51 participants rated impression of added or deleted pictures used in Experiment 2. Impression of added pictures was significantly different from that of deleted in 3 factors. These results suggest that superiority of additions over deletions might be due to their different impression change.

2D resistivity imaging and magnetic survey for characterization of thermal springs: A case study of Gergedi thermal springs in the northwest of Wonji, Main Ethiopian Rift, Ethiopia

Science.gov (United States)

Abdulkadir, Yahya Ali; Eritro, Tigistu Haile

2017-09-01

Electrical resistivity imaging and magnetic surveys were carried out at Gergedi thermal springs, located in the Main Ethiopian Rift, to characterize the geothermal condition of the area. The area is geologically characterized by alluvial and lacustrine deposits, basaltic lava, ignimbrites, and rhyolites. The prominent structural feature in this part of the Main Ethiopian Rift, the SW -NE trending structures of the Wonji Fault Belt System, crosse over the study area. Three lines of imaging data and numerous magnetic data, encompassing the active thermal springs, were collected. Analysis of the geophysical data shows that the area is covered by low resistivity response regions at shallow depths which resulted from saline moisturized soil subsurface horizon. Relatively medium and high resistivity responses resulting from the weathered basalt, rhyolites, and ignimbrites are also mapped. Qualitative interpretation of the magnetic data shows the presence of structures that could act as pathways for heat and fluids manifesting as springs and also characterize the degree of thermal alteration of the area. Results from the investigations suggest that the Gergedi thermal springs area is controlled by fault systems oriented parallel and sub-parallel to the main tectonic lines of the Main Ethiopian Rift.

Strategies for state-dependent quantum deleting

International Nuclear Information System (INIS)

Song Wei; Yang Ming; Cao Zhuoliang

2004-01-01

A quantum state-dependent quantum deleting machine is constructed. We obtain a upper bound of the global fidelity on N-to-M quantum deleting from a set of K non-orthogonal states. Quantum networks are constructed for the above state-dependent quantum deleting machine when K=2. Our deleting protocol only involves a unitary interaction among the initial copies, with no ancilla. We also present some analogies between quantum cloning and deleting

Engineering in-plane silicon nanowire springs for highly stretchable electronics

Science.gov (United States)

Xue, Zhaoguo; Dong, Taige; Zhu, Zhimin; Zhao, Yaolong; Sun, Ying; Yu, Linwei

2018-01-01

Crystalline silicon (c-Si) is unambiguously the most important semiconductor that underpins the development of modern microelectronics and optoelectronics, though the rigid and brittle nature of bulk c-Si makes it difficult to implement directly for stretchable applications. Fortunately, the one-dimensional (1D) geometry, or the line-shape, of Si nanowire (SiNW) can be engineered into elastic springs, which indicates an exciting opportunity to fabricate highly stretchable 1D c-Si channels. The implementation of such line-shape-engineering strategy demands both a tiny diameter of the SiNWs, in order to accommodate the strains under large stretching, and a precise growth location, orientation and path control to facilitate device integration. In this review, we will first introduce the recent progresses of an in-plane self-assembly growth of SiNW springs, via a new in-plane solid-liquid-solid (IPSLS) mechanism, where mono-like but elastic SiNW springs are produced by surface-running metal droplets that absorb amorphous Si thin film as precursor. Then, the critical growth control and engineering parameters, the mechanical properties of the SiNW springs and the prospects of developing c-Si based stretchable electronics, will be addressed. This efficient line-shape-engineering strategy of SiNW springs, accomplished via a low temperature batch-manufacturing, holds a strong promise to extend the legend of modern Si technology into the emerging stretchable electronic applications, where the high carrier mobility, excellent stability and established doping and passivation controls of c-Si can be well inherited. Project supported by the National Basic Research 973 Program (No. 2014CB921101), the National Natural Science Foundation of China (No. 61674075), the National Key Research and Development Program of China (No. 2017YFA0205003), the Jiangsu Excellent Young Scholar Program (No. BK20160020), the Scientific and Technological Support Program in Jiangsu Province (No. BE

Use of SPring-8 in drug development

International Nuclear Information System (INIS)

Nishijima, Kazumi

2006-01-01

Protein structure analysis consortium was established by 21 drug companies and has analyzed protein structures using the beam line BL32B2 of SPring-8 since September in 2002. Outline of the protein structure analysis consortium, contribution of SPring-8 to drug development, and the present status and future of use of SPring-8 are stated. For examples of structure analysis, the human nuclear enzyme (PARP-1) fragment complex crystal structure, human ISG20, human dipeptidine peptidase IV, human cMDH, chromatin binding human nuclear enzyme complex, change of structure of each step of tyrosine activation of bacteria tyrosine tRNA synthetase are described. Contribution of analysis of protein structure and functions to drug development, development process of new drug, drug screening using compounds database on the basis of the three dimensional structure of receptor active site, genome drug development, and the effects of a target drug on the market are explained. (S.Y.)

Homozygous Deletions and Recurrent Amplifications Implicate New Genes Involved in Prostate Cancer

Directory of Open Access Journals (Sweden)

Wennuan Liu

2008-08-01

Full Text Available Prostate cancer cell lines provide ideal in vitro systems for the identification and analysis of prostate tumor suppressors and oncogenes. A detailed characterization of the architecture of prostate cancer cell line genomes would facilitate the study of precise roles of various genes in prostate tumorigenesis in general. To contribute to such a characterization, we used the GeneChip 500K single nucleotide polymorphic (SNP array for analysis of genotypes and relative DNA copy number changes across the genome of 11 cell lines derived from both normal and cancerous prostate tissues. For comparison purposes, we also examined the alterations observed in the cell lines in tumor/normal pairs of clinical samples from 72 patients. Along with genome-wide maps of DNA copy number changes and loss of heterozygosity for these cell lines, we report previously unreported homozygous deletions and recurrent amplifications in prostate cancers in this study. The homozygous deletions affected a number of biologically important genes, including PPP2R2A and BNIP3L identified in this study and CDKN2A/CDKN2B reported previously. Although most amplified genomic regions tended to be large, amplifications at 8q24.21 were of particular interest because the affected regions are relatively small, are found in multiple cell lines, are located near MYC, an oncogene strongly implicated in prostate tumorigenesis, and are known to harbor SNPs that are associated with inherited susceptibility for prostate cancer. The genomic alterations revealed in this study provide an important catalog of positional information relevant to efforts aimed at deciphering the molecular genetic basis of prostate cancer.

Linear magnetic spring and spring/motor combination

Science.gov (United States)

Patt, Paul J. (Inventor); Stolfi, Fred R. (Inventor)

1991-01-01

A magnetic spring, or a spring and motor combination, providing a linear spring force characteristic in each direction from a neutral position, in which the spring action may occur for any desired coordinate of a typical orthogonal coordinate system. A set of magnets are disposed, preferably symmetrically about a coordinate axis, poled orthogonally to the desired force direction. A second set of magnets, respectively poled opposite the first set, are arranged on the sprung article. The magnets of one of the sets are spaced a greater distance apart than those of the other, such that an end magnet from each set forms a pair having preferably planar faces parallel to the direction of spring force, the faces being offset so that in a neutral position the outer edge of the closer spaced magnet set is aligned with the inner edge of the greater spaced magnet set. For use as a motor, a coil can be arranged with conductors orthogonal to both the magnet pole directions and the direction of desired spring force, located across from the magnets of one set and fixed with respect to the magnets of the other set. In a cylindrical coordinate system having axial spring force, the magnets are radially poled and motor coils are concentric with the cylinder axis.

Klf5 deletion promotes Pten deletion-initiated luminal-type mouse prostate tumors through multiple oncogenic signaling pathways.

Science.gov (United States)

Xing, Changsheng; Ci, Xinpei; Sun, Xiaodong; Fu, Xiaoying; Zhang, Zhiqian; Dong, Eric N; Hao, Zhao-Zhe; Dong, Jin-Tang

2014-11-01

Krüppel-like factor 5 (KLF5) regulates multiple biologic processes. Its function in tumorigenesis appears contradictory though, showing both tumor suppressor and tumor promoting activities. In this study, we examined whether and how Klf5 functions in prostatic tumorigenesis using mice with prostate-specific deletion of Klf5 and phosphatase and tensin homolog (Pten), both of which are frequently inactivated in human prostate cancer. Histologic analysis demonstrated that when one Pten allele was deleted, which causes mouse prostatic intraepithelial neoplasia (mPIN), Klf5 deletion accelerated the emergence and progression of mPIN. When both Pten alleles were deleted, which causes prostate cancer, Klf5 deletion promoted tumor growth, increased cell proliferation, and caused more severe morphologic and molecular alterations. Homozygous deletion of Klf5 was more effective than hemizygous deletion. Unexpectedly, while Pten deletion alone expanded basal cell population in a tumor as reported, Klf5 deletion in the Pten-null background clearly reduced basal cell population while expanding luminal cell population. Global gene expression profiling, pathway analysis, and experimental validation indicate that multiple mechanisms could mediate the tumor-promoting effect of Klf5 deletion, including the up-regulation of epidermal growth factor and its downstream signaling molecules AKT and ERK and the inactivation of the p15 cell cycle inhibitor. KLF5 also appears to cooperate with several transcription factors, including CREB1, Sp1, Myc, ER and AR, to regulate gene expression. These findings validate the tumor suppressor function of KLF5. They also yield a mouse model that shares two common genetic alterations with human prostate cancer-mutation/deletion of Pten and deletion of Klf5.

WARM SPRINGS CREEK GEOTHERMAL STUDY, BLAIN COUNTY IDAHO, 1987

Science.gov (United States)

In the Warm Springs Creek drainage near Ketchum, Idaho (17040219), a leaking pipeline coveys geothermal water through the valley to heat nearby homes as well as to supply a resorts swimming pool. Several domestic wells in close proximity to this line have exhibited increasing fl...

Groundwater flow cycling between a submarine spring and an inland fresh water spring.

Science.gov (United States)

Davis, J Hal; Verdi, Richard

2014-01-01

Spring Creek Springs and Wakulla Springs are large first magnitude springs that derive water from the Upper Floridan Aquifer. The submarine Spring Creek Springs are located in a marine estuary and Wakulla Springs are located 18 km inland. Wakulla Springs has had a consistent increase in flow from the 1930s to the present. This increase is probably due to the rising sea level, which puts additional pressure head on the submarine Spring Creek Springs, reducing its fresh water flow and increasing flows in Wakulla Springs. To improve understanding of the complex relations between these springs, flow and salinity data were collected from June 25, 2007 to June 30, 2010. The flow in Spring Creek Springs was most sensitive to rainfall and salt water intrusion, and the flow in Wakulla Springs was most sensitive to rainfall and the flow in Spring Creek Springs. Flows from the springs were found to be connected, and composed of three repeating phases in a karst spring flow cycle: Phase 1 occurred during low rainfall periods and was characterized by salt water backflow into the Spring Creek Springs caves. The higher density salt water blocked fresh water flow and resulted in a higher equivalent fresh water head in Spring Creek Springs than in Wakulla Springs. The blocked fresh water was diverted to Wakulla Springs, approximately doubling its flow. Phase 2 occurred when heavy rainfall resulted in temporarily high creek flows to nearby sinkholes that purged the salt water from the Spring Creek Springs caves. Phase 3 occurred after streams returned to base flow. The Spring Creek Springs caves retained a lower equivalent fresh water head than Wakulla Springs, causing them to flow large amounts of fresh water while Wakulla Springs flow was reduced by about half. Published 2013. This article is a U.S. Government work and is in the public domain in the USA.

Aerial radiological survey of the Weldon Spring Chemical Plant (St. Charles, Missouri)

International Nuclear Information System (INIS)

Jobst, J.E.

1975-01-01

Of the 27 lines flown over the Weldon Spring Chemical Plant drainage basins, five lines directly over the Plant site show uranium and thorium contamination probably due to Plant operations. Because the survey was done at an altitude of 152m, with a 300-meter line spacing, identification of individual radiation sources on the site is not possible from present data. One additional survey line over a quarry south of the Plant shows uranium contamination due to Plant wastes deposited there

Monitoring and analysis of liquid storage in LNG tank based on different support springs

Science.gov (United States)

He, Hua; Sun, Jianping; Li, Ke; Wu, Zheng; Chen, Qidong; Chen, Guodong; Cao, Can

2018-04-01

With the rapid development of social modernization, LNG vehicles are springing up in daily life. However, it is difficult to monitor and judge the liquid storage tanks accurately and quickly. Based on this, this paper presents a new method of liquid storage monitoring, LNG tank on-line vibration monitoring system. By collecting the vibration frequency of LNG tank and tank liquid and supporting spring system, the liquid storage quality in the tank can be calculated. In this experiment, various vibration modes of the tank spring system are fully taken into account. The vibration effects of different types of support springs on the LNG tank system were investigated. The results show that the spring model has a great influence on the test results. This study provides a technical reference for the selection of suitable support springs for liquid storage monitoring.

Identification of differentially expressed proteins in spontaneous thymic lymphomas from knockout mice with deletion of p53

DEFF Research Database (Denmark)

Honoré, Bent; Buus, Søren; Claësson, Mogens H

2008-01-01

ABSTRACT: BACKGROUND: Knockout mice with a deletion of p53 spontaneously develop thymic lymphomas. Two cell lines (SM5 and SM7), established from two independent tumours, exhibited about fifty to seventy two-fold differentially expressed proteins compared to wild type thymocytes by two-dimensiona......ABSTRACT: BACKGROUND: Knockout mice with a deletion of p53 spontaneously develop thymic lymphomas. Two cell lines (SM5 and SM7), established from two independent tumours, exhibited about fifty to seventy two-fold differentially expressed proteins compared to wild type thymocytes by two...... alpha type 3, transforming acidic coiled-coil containing protein 3, mitochondrial ornithine aminotransferase and epidermal fatty acid binding protein and down-regulation of adenylosuccinate synthetase, tubulin beta-3 chain, a 25 kDa actin fragment, proteasome subunit beta type 9, cofilin-1 and glia...

Spring Tire

Science.gov (United States)

Asnani, Vivake M.; Benzing, Jim; Kish, Jim C.

2011-01-01

The spring tire is made from helical springs, requires no air or rubber, and consumes nearly zero energy. The tire design provides greater traction in sandy and/or rocky soil, can operate in microgravity and under harsh conditions (vastly varying temperatures), and is non-pneumatic. Like any tire, the spring tire is approximately a toroidal-shaped object intended to be mounted on a transportation wheel. Its basic function is also similar to a traditional tire, in that the spring tire contours to the surface on which it is driven to facilitate traction, and to reduce the transmission of vibration to the vehicle. The essential difference between other tires and the spring tire is the use of helical springs to support and/or distribute load. They are coiled wires that deform elastically under load with little energy loss.

Studying Springs in Series Using a Single Spring

Science.gov (United States)

Serna, Juan D.; Joshi, Amitabh

2011-01-01

Springs are used for a wide range of applications in physics and engineering. Possibly, one of their most common uses is to study the nature of restoring forces in oscillatory systems. While experiments that verify Hooke's law using springs are abundant in the physics literature, those that explore the combination of several springs together are…

The Genome of the Chicken DT40 Bursal Lymphoma Cell Line

DEFF Research Database (Denmark)

Molnar, Janos; Poti, Adam; Pipek, Orsolya

2014-01-01

The chicken DT40 cell line is a widely used model system in the study of multiple cellular processes due to the efficiency of homologous gene targeting. The cell line was derived from a bursal lymphoma induced by avian leukosis virus infection. In this study we characterized the genome of the cell...... chicken genomes and the Gallus gallus reference genome, we found no unique mutational processes shaping the DT40 genome except for a mild increase in insertion and deletion events, particularly deletions at tandem repeats. We mapped coding sequence mutations that are unique to the DT40 genome; mutations...

The 29.5 kb APOBEC3B Deletion Polymorphism Is Not Associated with Clinical Outcome of Breast Cancer.

Science.gov (United States)

Liu, Jingjing; Sieuwerts, Anieta M; Look, Maxime P; van der Vlugt-Daane, Michelle; Meijer-van Gelder, Marion E; Foekens, John A; Hollestelle, Antoinette; Martens, John W M

2016-01-01

Increased APOBEC3B mRNA levels are associated with a hypermutator phenotype and poor prognosis in ER-positive breast cancer patients. In addition, a 29.5 kb deletion polymorphism of APOBEC3B, resulting in an APOBEC3A-B hybrid transcript, has been associated with an increased breast cancer risk and the hypermutator phenotype. Here we evaluated whether the APOBEC3B deletion polymorphism also associates with clinical outcome of breast cancer. Copy number analysis was performed by quantitative PCR (qPCR) in primary tumors of 1,756 Dutch breast cancer patients. The APOBEC3B deletion was found in 187 patients of whom 16 carried a two-copy deletion and 171 carried a one-copy deletion. The prognostic value of the APOBEC3B deletion for the natural course of the disease was evaluated among 1,076 lymph-node negative (LNN) patients who did not receive adjuvant systemic treatment. No association was found between APOBEC3B copy number values and the length of metastasis-free survival (MFS; hazard ratio (HR) = 1.00, 95% confidence interval (CI) = 0.90-1.11, P = 0.96). Subgroup analysis by ER status also did not reveal an association between APOBEC3B copy number values and the length of MFS. The predictive value of the APOBEC3B deletion was assessed among 329 ER-positive breast cancer patients who received tamoxifen as the first-line therapy for recurrent disease and 226 breast cancer patients who received first-line chemotherapy for recurrent disease. No association between APOBEC3B copy number values and the overall response rate (ORR) to either tamoxifen (odds ratio (OR) = 0.88, 95% CI = 0.69-1.13, P = 0.31) or chemotherapy (OR = 0.97, 95% CI = 0.71-1.33, P = 0.87) was found. Thus, in contrast to APOBEC3B mRNA levels, the APOBEC3B deletion polymorphism has neither a prognostic nor a predictive value for breast cancer patients. Although a correlation exists between APOBEC3B copy number and mRNA expression, it is relatively weak. This suggests that other mechanisms exist that may

Beginning Spring

CERN Document Server

Caliskan, Mert

2015-01-01

Get up to speed quickly with this comprehensive guide toSpring Beginning Spring is the complete beginner's guide toJava's most popular framework. Written with an eye towardreal-world enterprises, the book covers all aspects of applicationdevelopment within the Spring Framework. Extensive samples withineach chapter allow developers to get up to speed quickly byproviding concrete references for experimentation, building askillset that drives successful application development byexploiting the full capabilities of Java's latest advances. Spring provides the exact toolset required to build anent

Rapid deletion production in fungi via Agrobacterium mediated transformation of OSCAR deletion contructs.

Science.gov (United States)

Precise deletion of gene(s) of interest, while leaving the rest of the genome unchanged, provides the ideal product to determine that particular gene’s function in the living organism. In this protocol we describe the OSCAR method of precise and rapid deletion plasmid construction. OSCAR relies on t...

Effects of drought stress condition on the yield of spring wheat ...

African Journals Online (AJOL)

Effects of drought stress condition on the yield of spring wheat ( Triticum aestivum ) lines. ... Drought stress tolerance is seen in almost all plants but its extent varies from species to species and even within species. ... from 32 Countries:.

Partial deletion 11q

DEFF Research Database (Denmark)

Hertz, Jens Michael; Tommerup, N; Sørensen, F B

1995-01-01

We describe the cytogenetic findings and the dysmorphic features in a stillborn girl with a large de novo terminal deletion of the long arm of chromosome 11. The karyotype was 46,XX,del(11)(q21qter). By reviewing previous reports of deletion 11q, we found that cleft lip and palate are most...

Just Spring

CERN Document Server

Konda, Madhusudhan

2011-01-01

Get a concise introduction to Spring, the increasingly popular open source framework for building lightweight enterprise applications on the Java platform. This example-driven book for Java developers delves into the framework's basic features, as well as advanced concepts such as containers. You'll learn how Spring makes Java Messaging Service easier to work with, and how its support for Hibernate helps you work with data persistence and retrieval. Throughout Just Spring, you'll get your hands deep into sample code, beginning with a problem that illustrates dependency injection, Spring's co

One in Four Individuals of African-American Ancestry Harbors a 5.5kb Deletion at chromosome 11q13.1

Science.gov (United States)

Zainabadi, Kayvan; Jain, Anuja V.; Donovan, Frank X.; Elashoff, David; Rao, Nagesh P.; Murty, Vundavalli V.; Chandrasekharappa, Settara C.; Srivatsan, Eri S.

2014-01-01

Cloning and sequencing of 5.5kb deletion at chromosome 11q13.1 from the HeLa cells, tumorigenic hybrids and two fibroblast cell lines has revealed homologous recombination between AluSx and AluY resulting in the deletion of intervening sequences. Long-range PCR of the 5.5kb sequence in 494 normal lymphocyte samples showed heterozygous deletion in 28.3% of African- American ancestry samples but only in 4.8% of Caucasian samples (pdeletion occurs in 27% of YRI (Yoruba – West African) population but none in non-African populations. The HapMap analysis further identified strong linkage disequilibrium between 5 single nucleotide polymorphisms and the 5.5kb deletion in the people of African ancestry. Computational analysis of 175kb sequence surrounding the deletion site revealed enhanced flexibility, low thermodynamic stability, high repetitiveness, and stable stem-loop/hairpin secondary structures that are hallmarks of common fragile sites. PMID:24412158

Variation in the agronomic and morphological traits in spring barley

Directory of Open Access Journals (Sweden)

N. Dyulgerov

2017-12-01

Full Text Available Abstract. The study was conducted to examine the variation in the agronomic and morphological traits in spring barley. For this purpose, 22 lines from the ICARDA High Input Barley Program for favorable environment and 3 check varieties (Rihane-03, VMorales and Veslets were tested in an alpha-lattice design with two replications at the Institute of Agriculture – Karnobat, Bulgaria in 2014 and 2015 growing season. The traits days to heading, plant height, number of tillers per plant, flag leaf length, flag leaf width, spike length, awn length, peduncle length, spikelet number per spike, grain number per spike, grain weight per spike, 1000 grains weight, grain yield, powdery mildew (Erysiphe graminis f. sp. hordei, net blotch (Pyrenophora teres f. teres and stripe rust (Puccinia striiformis f. sp. hordei infection were studied. Significant differences between lines for all studied traits were found. The number of fertile tillers per plant was significantly positively correlated with grain yield. Lines expressed higher grain yields, shorter stem, better tolerance to net blotch and stripe rust than Bulgarian check variety Veslets were identified. These genotypes can, therefore, be used as parents for the improvement of spring barley.

Brand deletion: How the decision-making approach affects deletion success

Directory of Open Access Journals (Sweden)

Víctor Temprano-García

2018-04-01

Full Text Available Literature on brand deletion (BD, a critical and topical decision within a firm's marketing strategy, is extremely scarce. The present research is concerned with the decision-making process and examines the effect on BD success of three different approaches to decision-making – rational, intuitive and political – and of the interaction between the rational and political approaches. The moderating effect of the type of BD – i.e., total brand killing or disposal vs. brand name change – is also analyzed. The model is tested on a sample of 155 cases of BD. Results point to positive effects on BD success of both rationality and intuition, and a negative effect of politics. Findings also indicate that the negative impact of political behavior on BD success is minimized in the absence of evidence and objective information and when the BD is undertaken through a brand name change. JEL classification: L10, M31, Keywords: Brand deletion, Rational decision-making, Intuitive decision-making, Political decision-making, Brand deletion success

Analysis of Spring Development and Gravity Flow System to Capture Water for Local Communities

Directory of Open Access Journals (Sweden)

Adiningrum Cita

2017-01-01

Full Text Available Springs as water sources are relatively inexpensive but highly susceptible to contamination since they are fed by shallow groundwater. Proper spring development helps protect the water from contamination. This study presents an analysis and design of spring development including the type of broncaptering/collecting wall, the dimension for the spring box and the conduction line. In addition, a guideline on “Springwater Construction” published by the Ministry of Public Works has been used in this design. A concentrated spring in Wates, Magelang, Central Java is used as a case study. The design calls for the collection of water from a spring using sets of broncaptering and a spring box, then piping it by gravity a distance of 5.1 kilometers to Van Lith Senior High School. Analysis was done using a manual calculation, which is subsequently compared to the result of HYDROFLO 3 software. Results show that the spring with a flow rate of 0.12 litre/s (manual and 0.17 litre/s (software will be collected into a 5 m3 volume of spring box. The spring box with a +543 m water surface elevation is being supplied to Van Lith +384 m ground elevation using a uniform PVC pipelines with a ¾ inch of diameter.

Some analogies between quantum cloning and quantum deleting

International Nuclear Information System (INIS)

Qiu Daowen

2002-01-01

We further verify the impossibility of deleting an arbitrary unknown quantum state, and also show it is impossible to delete two nonorthogonal quantum states as a consequence of unitarity of quantum mechanics. A quantum approximate (deterministic) deleting machine and a probabilistic (exact) deleting machine are constructed. The estimation for the global fidelity characterizing the efficiency of the quantum approximate deleting is given. We then demonstrate that unknown nonorthogonal states chosen from a set with their multiple copies can evolve into a linear superposition of multiple deletions and failure branches by a unitary process if and only if the states are linearly independent. It is notable that the proof for necessity is somewhat different from Pati's [Phys. Rev. Lett. 83, 2849 (1999)]. Another deleting machine for the input states that are unnecessarily linearly independent is also presented. The bounds on the success probabilities of these deleting machines are derived. So we expound some preliminary analogies between quantum cloning and deleting

Deletion mutant defines DQ beta variants with DR4 positive DQw3 positive haplotypes

International Nuclear Information System (INIS)

Nepom, B.S.; Kim, S.J.; Nepom, G.T.

1986-01-01

We describe the production of an HLA deletion mutation by radiation mutagenesis of a DR4- and DQw3-homozygous, Dw4- and Dw14-heterozygous cell line designed to analyze polymorphisms associated with DR4 and DQw3. Southern blot analysis confirms a deletion of class I and class II genes on one haplotype. Variation in DQ beta alleles associated with DQw3 was previously described by characteristic RFLP patterns for a DQ beta bene. One pattern, which correlated precisely with A-10-83 monoclonal antibody reactivity (TA10), defined an allele which we call DQ''3.1''. The mutant cell line has lost the polymorphic bands on Southern blots corresponding to the DQ''3.1'' allele, while the intact Dw14 haplotype retains the alternate allele at DQ beta which is DQw-3 positive. TA10-negative. These data demonstrate the segregation of two DQw3 positive DQ beta allelic variants, both associated with DR4, which can be distinguished on the basis of both RFLP and monoclonal antibody reactivity

Pro Spring Batch

CERN Document Server

Minella, Michael T

2011-01-01

Since its release, Spring Framework has transformed virtually every aspect of Java development including web applications, security, aspect-oriented programming, persistence, and messaging. Spring Batch, one of its newer additions, now brings the same familiar Spring idioms to batch processing. Spring Batch addresses the needs of any batch process, from the complex calculations performed in the biggest financial institutions to simple data migrations that occur with many software development projects. Pro Spring Batch is intended to answer three questions: *What? What is batch processing? What

An intersection graph of straight lines

DEFF Research Database (Denmark)

Thomassen, Carsten

2002-01-01

G. Ehrlich, S. Even, and R.E. Tarjan conjectured that the graph obtained from a complete 3 partite graph K4,4,4 by deleting the edges of four disjoint triangles is not the intersection graph of straight line segments in the plane. We show that it is....

Probing the Physics of Narrow-line Regions in Active Galaxies. IV. Full Data Release of the Siding Spring Southern Seyfert Spectroscopic Snapshot Survey (S7)

Energy Technology Data Exchange (ETDEWEB)

Thomas, Adam D.; Dopita, Michael A.; Davies, Rebecca; Hampton, Elise; Kewley, Lisa; Banfield, Julie; Groves, Brent; Sutherland, Ralph [RSAA, Australian National University, Cotter Road, Weston Creek, ACT 2611 (Australia); Shastri, Prajval; Sairam, Lalitha [Indian Institute of Astrophysics, Sarjapur Road, Bengaluru 560034 (India); James, Bethan L. [Space Telescope Science Institute, 3700 San Martin Drive, Baltimore, MD 21218 (United States); Jin, Chichuan [Max-Planck-Institut für Extraterrestrische Physik, Garching (Germany); Juneau, Stéphanie [CEA-Saclay, DSM/IRFU/SAp, F-91191 Gif-sur-Yvette (France); Kharb, Preeti [National Centre for Radio Astrophysics—Tata Institute of Fundamental Research, Pune University Campus, Post Bag 3, Ganeshkhind Pune 411007 (India); Scharwächter, Julia [Gemini Observatory, Northern Operations Center, 670 N. A’ohoku Place, Hilo, Hawaii 96720 (United States); Shalima, P. [Regional Institute of Education, Manasagangotri, Mysore 570006 (India); Sundar, M. N. [Jain University, 3rd Block Jayanagar, Bengaluru 560011 (India); Zaw, Ingyin, E-mail: adam.thomas@anu.edu.au [New York University (Abu Dhabi), 70 Washington Sq. S, New York, NY 10012 (United States)

2017-09-01

We present the second and final data release of the Siding Spring Southern Seyfert Spectroscopic Snapshot Survey (S7). Data are presented for 63 new galaxies not included in the first data release, and we provide 2D emission-line fitting products for the full S7 sample of 131 galaxies. The S7 uses the WiFeS instrument on the ANU 2.3 m telescope to obtain spectra with a spectral resolution of R  = 7000 in the red (540–700 nm) and R  = 3000 in the blue (350–570 nm), over an integral field of 25 × 38 arcsec{sup 2} with 1 × 1 arcsec{sup 2} spatial pixels. The S7 contains both the largest sample of active galaxies and the highest spectral resolution of any comparable integral field survey to date. The emission-line fitting products include line fluxes, velocities, and velocity dispersions across the WiFeS field of view, and an artificial neural network has been used to determine the optimal number of Gaussian kinematic components for emission-lines in each spaxel. Broad Balmer lines are subtracted from the spectra of nuclear spatial pixels in Seyfert 1 galaxies before fitting the narrow lines. We bin nuclear spectra and measure reddening-corrected nuclear fluxes of strong narrow lines for each galaxy. The nuclear spectra are classified on optical diagnostic diagrams, where the strength of the coronal line [Fe vii] λ 6087 is shown to be correlated with [O iii]/H β . Maps revealing gas excitation and kinematics are included for the entire sample, and we provide notes on the newly observed objects.

Anti-leukemic activity of bortezomib and carfilzomib on B-cell precursor ALL cell lines.

Directory of Open Access Journals (Sweden)

Kazuya Takahashi

Full Text Available Prognosis of childhood acute lymphoblastic leukemia (ALL has been dramatically improved. However, prognosis of the cases refractory to primary therapy is still poor. Recent phase 2 study on the efficacy of combination chemotherapy with bortezomib (BTZ, a proteasome inhibitor, for refractory childhood ALL demonstrated favorable clinical outcomes. However, septic death was observed in over 10% of patients, indicating the necessity of biomarkers that could predict BTZ sensitivity. We investigated in vitro BTZ sensitivity in a large panel of ALL cell lines that acted as a model system for refractory ALL, and found that Philadelphia chromosome-positive (Ph+ ALL, IKZF1 deletion, and biallelic loss of CDKN2A were associated with favorable response. Even in Ph-negative ALL cell lines, IKZF1 deletion and bilallelic loss of CDKN2A were independently associated with higher BTZ sensitivity. BTZ showed only marginal cross-resistance to four representative chemotherapeutic agents (vincristine, dexamethasone, l-asparaginase, and daunorubicin in B-cell precursor-ALL cell lines. To improve the efficacy and safety of proteasome inhibitor combination chemotherapy, we also analyzed the anti-leukemic activity of carfilzomib (CFZ, a second-generation proteasome inhibitor, as a substitute for BTZ. CFZ showed significantly higher activity than BTZ in the majority of ALL cell lines except for the P-glycoprotein-positive t(17;19 ALL cell lines, and IKZF1 deletion was also associated with a favorable response to CFZ treatment. P-glycoprotein inhibitors effectively restored the sensitivity to CFZ, but not BTZ, in P-glycoprotein-positive t(17;19 ALL cell lines. P-glycoprotein overexpressing ALL cell line showed a CFZ-specific resistance, while knockout of P-glycoprotein by genome editing with a CRISPR/Cas9 system sensitized P-glycoprotein-positive t(17;19 ALL cell line to CFZ. These observations suggested that IKZF1 deletion could be a useful biomarker to predict good

Hydrosalinity studies of the Virgin River, Dixie Hot Springs, and Littlefield Springs, Utah, Arizona, and Nevada

Science.gov (United States)

Gerner, Steven J.; Thiros, Susan A.; Gerner, Steven J.; Thiros, Susan A.

2014-01-01

The Virgin River contributes a substantial amount of dissolved solids (salt) to the Colorado River at Lake Mead in the lower Colorado River Basin. Degradation of Colorado River water by the addition of dissolved solids from the Virgin River affects the suitability of the water for municipal, industrial, and agricultural use within the basin. Dixie Hot Springs in Utah are a major localized source of dissolved solids discharging to the Virgin River. The average measured discharge from Dixie Hot Springs during 2009–10 was 11.0 cubic feet per second (ft3/s), and the average dissolved-solids concentration was 9,220 milligrams per liter (mg/L). The average dissolved-solids load—a measurement that describes the mass of salt that is transported per unit of time—from Dixie Hot Springs during this period was 96,200 tons per year (ton/yr). Annual dissolved-solids loads were estimated at 13 monitoring sites in the Virgin River Basin from streamflow data and discrete measurements of dissolved-solids concentrations and (or) specific conductance. Eight of the sites had the data needed to estimate annual dissolved-solids loads for water years (WYs) 1999 through 2010. During 1999–2010, the smallest dissolved-solids loads in the Virgin River were upstream of Dixie Hot Springs (59,900 ton/yr, on average) and the largest loads were downstream of Littlefield Springs (298,200 ton/yr, on average). Annual dissolved-solids loads were smallest during 2002–03, which was a period of below normal precipitation. Annual dissolved-solids loads were largest during 2005—a year that included a winter rain storm that resulted in flooding throughout much of the Virgin River Basin. An average seepage loss of 26.7 ft3/s was calculated from analysis of monthly average streamflow from July 1998 to September 2010 in the Virgin River for the reach that extends from just upstream of the Utah/Arizona State line to just above the Virgin River Gorge Narrows. Seepage losses from three river reaches

Characteristics and Origins of Hot Springs in the Tatun Volcano Group in Northern Taiwan

Directory of Open Access Journals (Sweden)

Chia-Mei Liu

2011-01-01

Full Text Available This paper systematically surveyed distribution and field occurrences of 13 hot springs as well as geochemical investigation on the geothermal area of the Tatun Volcano Group (TVG. According to Piper diagrams, pH values, field occurrences and water-rock interactions, these hot springs can be classified into three types: (1 Type I, SO42- acidic water where the reservoir is located in the Wuchishan Formation; (2 Type II, HCO3- a near neutral spring where waters originate from the volcanic terrane (andesite; and (3 Type III, Cl- -rich acidic water where waters emanate from shallower Wuchishan Formation. In terms of isotopic ratio, δD and δ18O values, two groups of hot spring can be recognized. One is far away from the meteoric water line of the Tatun area with values ranging between -26.2‰ and -3.5‰, and from -3.2‰ to 1.6‰, respectively. However, another close to the meteoric water line of the Tatun area is between -28.4‰ and -13.6‰, and from -5.5‰ to -4.2‰, respectively. In addition, the δ34S value of thermal waters can also be distinguished into two groups, one ranging from 26.1‰ to 28.5‰, and the other between 0.8‰ and 7.8‰. Based on field occurrences and geochemical characteristics, a model has been proposed to illustrate the origin of these hot springs.

Probabilistic cloning and deleting of quantum states

International Nuclear Information System (INIS)

Feng Yuan; Zhang Shengyu; Ying Mingsheng

2002-01-01

We construct a probabilistic cloning and deleting machine which, taking several copies of an input quantum state, can output a linear superposition of multiple cloning and deleting states. Since the machine can perform cloning and deleting in a single unitary evolution, the probabilistic cloning and other cloning machines proposed in the previous literature can be thought of as special cases of our machine. A sufficient and necessary condition for successful cloning and deleting is presented, and it requires that the copies of an arbitrarily presumed number of the input states are linearly independent. This simply generalizes some results for cloning. We also derive an upper bound for the success probability of the cloning and deleting machine

46 CFR 67.171 - Deletion; requirement and procedure.

Science.gov (United States)

2010-10-01

... 46 Shipping 2 2010-10-01 2010-10-01 false Deletion; requirement and procedure. 67.171 Section 67...; Requirement for Exchange, Replacement, Deletion, Cancellation § 67.171 Deletion; requirement and procedure. (a... provided in § 67.161, and the vessel is subject to deletion from the roll of actively documented vessels...

Development of DArT-based PCR markers for selecting drought-tolerant spring barley.

Science.gov (United States)

Fiust, Anna; Rapacz, Marcin; Wójcik-Jagła, Magdalena; Tyrka, Mirosław

2015-08-01

The tolerance of spring barley (Hordeum vulgare L.) cultivars to spring drought is an important agronomic trait affecting crop yield and quality in Poland. Therefore, breeders require new molecular markers to select plants with lower spring drought susceptibility. With the advent of genomic selection technology, simple molecular tools may still be applicable to screen material for markers of the most important traits and in-depth genome scanning. In previous studies, diversity arrays technology (DArT)-based genetic maps were constructed for F2 populations of Polish fodder and malt barley elite breeding lines, and 15 and 18 quantitative trait loci (QTLs) related to spring drought tolerance were identified, respectively. In this paper, we show the results of a conversion of 30 DArT markers corresponding to 11 QTLs into simple sequence repeat (SSR) and sequence tagged site (STS) markers. Twenty-two polymorphic markers were obtained, including 13 DArT-based SSRs. Additionally, 31 SSR markers, located in close proximity to the DArT markers, were selected from the GrainGenes database and tested. Further analyses of 24 advanced breeding lines with different drought tolerances confirmed that five out of the 30 converted markers, as well as three out of the 31 additional SSR markers, were effective in marker-assisted selection for drought tolerance. The possible function of clones related to these markers in drought tolerance is discussed.

Paradoxical expression of INK4c in proliferative multiple myeloma tumors: bi-allelic deletion vs increased expression

Directory of Open Access Journals (Sweden)

Hanamura Ichiro

2006-10-01

Full Text Available Abstract Background A high proliferative capacity of tumor cells usually is associated with shortened patient survival. Disruption of the RB pathway, which is critically involved in regulating the G1 to S cell cycle transition, is a frequent target of oncogenic events that are thought to contribute to increased proliferation during tumor progression. Previously, we determined that p18INK4c, an essential gene for normal plasma cell differentiation, was bi-allelically deleted in five of sixteen multiple myeloma (MM cell lines. The present study was undertaken to investigate a possible role of p18INK4c in increased proliferation of myeloma tumors as they progress. Results Thirteen of 40 (33% human myeloma cell lines do not express normal p18INK4c, with bi-allelic deletion of p18 in twelve, and expression of a mutated p18 fragment in one. Bi-allelic deletion of p18, which appears to be a late progression event, has a prevalence of about 2% in 261 multiple myeloma (MM tumors, but the prevalence is 6 to10% in the 50 tumors with a high expression-based proliferation index. Paradoxically, 24 of 40 (60% MM cell lines, and 30 of 50 (60% MM tumors with a high proliferation index express an increased level of p18 RNA compared to normal bone marrow plasma cells, whereas this occurs in only five of the 151 (3% MM tumors with a low proliferation index. Tumor progression is often accompanied by increased p18 expression and an increased proliferation index. Retroviral-mediated expression of exogenous p18 results in marked growth inhibition in three MM cell lines that express little or no endogenous p18, but has no effect in another MM cell line that already expresses a high level of p18. Conclusion Paradoxically, although loss of p18 appears to contribute to increased proliferation of nearly 10% of MM tumors, most MM cell lines and proliferative MM tumors have increased expression of p18. Apart from a small fraction of cell lines and tumors that have inactivated

Thermal springs of Wyoming

Energy Technology Data Exchange (ETDEWEB)

Breckenridge, R.M.; Hinckley, B.S.

1978-01-01

This bulletin attempts, first, to provide a comprehensive inventory of the thermal springs of Wyoming; second, to explore the geologic and hydrologic factors producing these springs; and, third, to analyze the springs collectively as an indicator of the geothermal resources of the state. A general discussion of the state's geology and the mechanisms of thermal spring production, along with a brief comparison of Wyoming's springs with worldwide thermal features are included. A discussion of geothermal energy resources, a guide for visitors, and an analysis of the flora of Wyoming's springs follow the spring inventory. The listing and analysis of Wyoming's thermal springs are arranged alphabetically by county. Tabulated data are given on elevation, ownership, access, water temperature, and flow rate. Each spring system is described and its history, general characteristics and uses, geology, hydrology, and chemistry are discussed. (MHR)

Strontium isotopic composition of hot spring and mineral spring waters, Japan

International Nuclear Information System (INIS)

Notsu, Kenji; Wakita, Hiroshi; Nakamura, Yuji

1991-01-01

In Japan, hot springs and mineral springs are distributed in Quaternary and Neogene volcanic regions as well as in granitic, sedimentary and metamorphic regions lacking in recent volcanic activity. The 87 Sr/ 86 Sr ratio was determined in hot spring and mineral spring waters obtained from 47 sites. The ratios of waters from Quaternary and Neogene volcanic regions were in the range 0.703-0.708, which is lower than that from granitic, sedimentary and metamorphic regions (0.706-0.712). The geographical distribution of the ratios coincides with the bedrock geology, and particularly the ratios of the waters in Quaternary volcanic regions correlate with those of surrounding volcanic rocks. These features suggest that subsurface materials control the 87 Sr/ 86 Sr ratios of soluble components in the hot spring and mineral spring waters. (author)

A natural tracer investigation of the hydrological regime of Spring Creek Springs, the largest submarine spring system in Florida

Science.gov (United States)

Dimova, Natasha T.; Burnett, William C.; Speer, Kevin

2011-04-01

This work presents results from a nearly two-year monitoring of the hydrologic dynamics of the largest submarine spring system in Florida, Spring Creek Springs. During the summer of 2007 this spring system was observed to have significantly reduced flow due to persistent drought conditions. Our examination of the springs revealed that the salinity of the springs' waters had increased significantly, from 4 in 2004 to 33 in July 2007 with anomalous high radon ( 222Rn, t1/2=3.8 days) in surface water concentrations indicating substantial saltwater intrusion into the local aquifer. During our investigation from August 2007 to May 2009 we deployed on an almost monthly basis a continuous radon-in-water measurement system and monitored the salinity fluctuations in the discharge area. To evaluate the springs' freshwater flux we developed three different models: two of them are based on water velocity measurements and either salinity or 222Rn in the associated surface waters as groundwater tracers. The third approach used only salinity changes within the spring area. The three models showed good agreement and the results confirmed that the hydrologic regime of the system is strongly correlated to local precipitation and water table fluctuations with higher discharges after major rain events and very low, even reverse flow during prolong droughts. High flow spring conditions were observed twice during our study, in the early spring and mid-late summer of 2008. However the freshwater spring flux during our observation period never reached that reported from a 1970s value of 4.9×10 6 m 3/day. The maximum spring flow was estimated at about 3.0×10 6 m 3/day after heavy precipitation in February-March 2008. As a result of this storm (total of 173 mm) the salinity in the spring area dropped from about 27 to 2 in only two days. The radon-in-water concentrations dramatically increased in parallel, from about 330 Bq/m 3 to about 6600 Bq/m 3. Such a rapid response suggests a direct

On Deletion of Sutra Translation

Institute of Scientific and Technical Information of China (English)

CHEN Shu-juan

2017-01-01

Dao An's the metaphor of translation "wine diluted with water' ' expressed a view about translation that had been abridged.Later Kumarajiva provided metaphor "rice chewed—tasteless and downright disgusting".Both of them felt regretted at the weakening of taste,sometimes even the complete loss of flavor caused by deletion in translation of Buddhist sutras.In early sutra translation,deletion is unavoidable which made many sutra translators felt confused and drove them to study it further and some even managed to give their understanding to this issue.This thesis will discuss the definition,and what causes deletion and the measures adopted by the sutra translators.

Novosadski golozrni, a spring oat variety

Directory of Open Access Journals (Sweden)

Pržulj Novo

2001-01-01

Full Text Available The naked oat variety Novosadski golozrni was developed from a cross between the variety Adam and a spring-type naked oat line from Canada. The variety is early, medium tall, with excellent resistance to lodging. The yield of Novosadski golozrni is 30-40% lower than that of the hulled standard and it is to the largest measure dependent on the interaction variety x year x location. The variety has high contents of proteins and fats (19.2% DM and 6.2% DM, respectively and a low cellulose content (2.8% DM. .

Instant Spring Tool Suite

CERN Document Server

Chiang, Geoff

2013-01-01

Filled with practical, step-by-step instructions and clear explanations for the most important and useful tasks. A tutorial guide that walks you through how to use the features of Spring Tool Suite using well defined sections for the different parts of Spring.Instant Spring Tool Suite is for novice to intermediate Java developers looking to get a head-start in enterprise application development using Spring Tool Suite and the Spring framework. If you are looking for a guide for effective application development using Spring Tool Suite, then this book is for you.

Development of a model system to identify differences in spring and winter oat.

Science.gov (United States)

Chawade, Aakash; Lindén, Pernilla; Bräutigam, Marcus; Jonsson, Rickard; Jonsson, Anders; Moritz, Thomas; Olsson, Olof

2012-01-01

Our long-term goal is to develop a Swedish winter oat (Avena sativa). To identify molecular differences that correlate with winter hardiness, a winter oat model comprising of both non-hardy spring lines and winter hardy lines is needed. To achieve this, we selected 294 oat breeding lines, originating from various Russian, German, and American winter oat breeding programs and tested them in the field in south- and western Sweden. By assaying for winter survival and agricultural properties during four consecutive seasons, we identified 14 breeding lines of different origins that not only survived the winter but also were agronomically better than the rest. Laboratory tests including electrolytic leakage, controlled crown freezing assay, expression analysis of the AsVrn1 gene and monitoring of flowering time suggested that the American lines had the highest freezing tolerance, although the German lines performed better in the field. Finally, six lines constituting the two most freezing tolerant lines, two intermediate lines and two spring cultivars were chosen to build a winter oat model system. Metabolic profiling of non-acclimated and cold acclimated leaf tissue samples isolated from the six selected lines revealed differential expression patterns of 245 metabolites including several sugars, amino acids, organic acids and 181 hitherto unknown metabolites. The expression patterns of 107 metabolites showed significant interactions with either a cultivar or a time-point. Further identification, characterisation and validation of these metabolites will lead to an increased understanding of the cold acclimation process in oats. Furthermore, by using the winter oat model system, differential sequencing of crown mRNA populations would lead to identification of various biomarkers to facilitate winter oat breeding.

Analysis of the Residual Stresses in Helical Cylindrical Springs at High Temperature

Directory of Open Access Journals (Sweden)

H. Sun

2015-01-01

Full Text Available Creep is one of the basic properties of materials, its speed significantly depends on the temperature. Helical cylindrical springs are widely used in the elements of heating systems. This results in necessity of taking into account the effect of temperature on the stress-strain state of the spring. The object of research is a helical cylindrical spring used at high temperatures. Under this condition the spring state stability should be ensured.The paper studies relaxation of stress state and generation of residual stresses. Calculations are carried out in ABAQUS environment. The purpose of this work is to discuss the law of relaxation and residual stress in the spring.This paper describes the basic creep theories of helical cylindrical spring material. The calculation formulas of shear stress relaxation for a fixed compression ratio are obtained. Distribution and character of stress contour lines in the cross section of spring are presented. The stress relaxation – time relationships are discussed. The approximate formula for calculating relaxation shear stresses in the cross section of helical springs is obtained.The paper investigates creep ratio and law of residual stress variation in the cross-section of spring at 650℃. Computer simulation in ABAQUS environment was used. Research presents a finite element model of the spring creep in the cross-section.The paper conducts analysis of the stress changes for the creep under constant load. Under constant load stresses are quickly decreased in the around area of cross-section and are increased in the centre, i.e. the maximum and minimum stresses come close with time. Research work shows the possibility for using the approximate formula to calculate the relaxation shear stress in the cross section of spring and can provide a theoretical basis for predicting the service life of spring at high temperatures.In research relaxation processes of stress state are studied. Finite element model is cre

Gene expression patterns of chicken neuregulin 3 in association with copy number variation and frameshift deletion.

Science.gov (United States)

Abe, Hideaki; Aoya, Daiki; Takeuchi, Hiro-Aki; Inoue-Murayama, Miho

2017-07-21

NRG3 are structural mutations that occurred before the establishment of commercial chicken lines. Our results further suggest that the putative frameshift deletion in exon 2 may potentially affect the expression level of particular isoforms of chicken NRG3.

Pro Spring Integration

CERN Document Server

Lui, M; Chan, Andy; Long, Josh

2011-01-01

Pro Spring Integration is an authoritative book from the experts that guides you through the vast world of enterprise application integration (EAI) and application of the Spring Integration framework towards solving integration problems. The book is:. * An introduction to the concepts of enterprise application integration * A reference on building event-driven applications using Spring Integration * A guide to solving common integration problems using Spring Integration What makes this book unique is its coverage of contemporary technologies and real-world information, with a focus on common p

16p11.2 Deletion Mice Display Cognitive Deficits in Touchscreen Learning and Novelty Recognition Tasks

Science.gov (United States)

Yang, Mu; Lewis, Freeman C.; Sarvi, Michael S.; Foley, Gillian M.; Crawley, Jacqueline N.

2015-01-01

Chromosomal 16p11.2 deletion syndrome frequently presents with intellectual disabilities, speech delays, and autism. Here we investigated the Dolmetsch line of 16p11.2 heterozygous (+/-) mice on a range of cognitive tasks with different neuroanatomical substrates. Robust novel object recognition deficits were replicated in two cohorts of 16p11.2…

A strong deletion bias in nonallelic gene conversion.

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Raquel Assis

Full Text Available Gene conversion is the unidirectional transfer of genetic information between orthologous (allelic or paralogous (nonallelic genomic segments. Though a number of studies have examined nucleotide replacements, little is known about length difference mutations produced by gene conversion. Here, we investigate insertions and deletions produced by nonallelic gene conversion in 338 Drosophila and 10,149 primate paralogs. Using a direct phylogenetic approach, we identify 179 insertions and 614 deletions in Drosophila paralogs, and 132 insertions and 455 deletions in primate paralogs. Thus, nonallelic gene conversion is strongly deletion-biased in both lineages, with almost 3.5 times as many conversion-induced deletions as insertions. In primates, the deletion bias is considerably stronger for long indels and, in both lineages, the per-site rate of gene conversion is orders of magnitudes higher than that of ordinary mutation. Due to this high rate, deletion-biased nonallelic gene conversion plays a key role in genome size evolution, leading to the cooperative shrinkage and eventual disappearance of selectively neutral paralogs.

The Genetic Deletion of 6q21 and PRDM1 and Clinical Implications in Extranodal NK/T Cell Lymphoma, Nasal Type

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Li Liang

2015-01-01

Full Text Available 6q21 genetic deletion has been frequently detected in extranodal NK/T cell lymphoma, nasal type (EN-NK/T-NT, and PRDM1 is considered as candidate gene. However, direct detection of PRDM1 deletion has not been well documented. We investigated genetic alterations of 6q21 and PRDM1 in 43 cases of EN-NK/T-NT and cell lines by FISH. PRDM1 expression was evaluated by immunohistochemistry and Western blot. The correlation between genetic alteration and PRDM1 expression and the significance in clinic-pathologic were analyzed. Heterozygous deletion of 6q21 and/or PRDM1 was observed in 24 of 43 cases (55.81% of EN-NK/T-NT including 16 cases (37.21% for 6q21 deletion and 19 cases (44.19% for PRDM1 deletion. Similarly, heterozygous codeletion of 6q21 and PRDM1 was identified in NK92 and NKL cells. The heterozygous deletion of 6q21 and/or PRDM1 was correlated with PRDM1 expression. However, genetic deletion of 6q21 and/or PRDM1 was not correlated with clinicopathological features of EN-NK/T-NT, while PRDM1 expression showed positive effect on the outcome of patients as those as disease site, B symptom, and clinical stage. Thus, heterozygous deletion of 6q21 and/or PRDM1 was frequently detected in EN-NK/T-NT and correlated with downregulation of PRDM1. But the prognostic role of genetic deletion needs to be further evaluated in larger cohort.

Characterization of five partial deletions of the factor VIII gene

International Nuclear Information System (INIS)

Youssoufian, H.; Antonarakis, S.E.; Aronis, S.; Tsiftis, G.; Phillips, D.G.; Kazazian, H.H. Jr.

1987-01-01

Hemophilia A is an X-linked disorder of coagulation caused by a deficiency of factor VIII. By using cloned DNA probes, the authors have characterized the following five different partial deletions of the factor VIII gene from a panel of 83 patients with hemophilia A: (i) a 7-kilobase (kb) deletion that eliminates exon 6; (ii) a 2.5-kb deletion that eliminates 5' sequences of exon 14; (iii) a deletion of at least 7 kb that eliminates exons 24 and 25; (iv) a deletion of at least 16 kb that eliminates exons 23-25; and (v) a 5.5-kb deletion that eliminates exon 22. The first four deletions are associated with severe hemophilia A. By contrast, the last deletion is associated with moderate disease, possibly because of in-frame splicing from adjacent exons. None of those patients with partial gene deletions had circulating inhibitors to factor VIII. One deletion occurred de novo in a germ cell of the maternal grandmother, while a second deletion occurred in a germ cell of the maternal grandfather. These observations demonstrate that de novo deletions of X-linked genes can occur in either male or female gametes

Coastal submarine springs in Lebanon and Syria: Geological, geochemical, and radio-isotopic study

International Nuclear Information System (INIS)

Al-Charideh, A.

2004-10-01

The coastal karst aquifer system (upper Cretaceous) and the submarine springs in the Syrian coast have been studies using chemical and isotopic methods in order to determine the hydraulic connections between the groundwater and the submarine springs. Results show that the groundwater and submarine springs are having the same slope on the σ 18 O/σ 2 H plot indicate the same hydrological origin for both. In addition this relation is very close to the local meteoric water line (LMWL) reflecting a rapid infiltration of rainfall to recharge coastal aquifer. The calculated percentage of freshwater in the two locations (Bassieh and Tartous) range from 20 to 96%. The estimation rate of the permanent submarine springs (BS1, BS2 and TS2, TS3) is 11m 3 /s or 350 million m 3 /y. The maximum residence time of the groundwater in the Cenomanian/Turonian aquifer was estimated at around 8 years, using the piston-flow model.(author)

Inhibition of spring viraemia of carp virus replication in an Epithelioma papulosum cyprini cell line by RNAi

Science.gov (United States)

Gotesman, M; Soliman, H; Besch, R; El-Matbouli, M

2015-01-01

Spring viraemia of carp virus (SVCV) is an aetiological agent of a serious disease affecting carp farms in Europe and is a member of the Rhabdoviridae family of viruses. The genome of SVCV codes for five proteins: nucleoprotein (N), phosphoprotein (P), matrix protein (M), glycoprotein (G) and RNA-dependent RNA polymerase (L). RNA-mediated interference (RNAi) by small interfering RNAs (siRNAs) is a powerful tool to inhibit gene transcription and is used to study genes important for viral replication. In previous studies regarding another member of Rhabdoviridae, siRNA inhibition of the rabies virus nucleoprotein gene provided in vitro and in vivo protection against rabies. In this study, synthetic siRNA molecules were designed to target SVCV-N and SVCV-P transcripts to inhibit SVCV replication and were tested in an epithelioma papulosum cyprini (EPC) cell line. Inhibition of gene transcription was measured by real-time quantitative reverse-transcription PCR (RT-qPCR). The efficacy of using siRNA for inhibition of viral replication was analysed by RT-qPCR measurement of a reporter gene (glycoprotein) expression and by virus endpoint titration. Inhibition of nucleoprotein and phosphoprotein gene expression by siRNA reduced SVCV replication. However, use of tandem siRNAs that target phosphoprotein and nucleoprotein worked best at reducing SVCV replication. PMID:24460815

Altered Actions of Memantine and NMDA-Induced Currents in a New Grid2-Deleted Mouse Line

Directory of Open Access Journals (Sweden)

Ayako Kumagai

2014-12-01

Full Text Available Memantine is a non-competitive antagonist of the N-methyl-D-aspartate (NMDA receptor, and is an approved drug for the treatment of moderate-to-severe Alzheimer’s disease. We identified a mouse strain with a naturally occurring mutation and an ataxic phenotype that presents with severe leg cramps. To investigate the phenotypes of these mutant mice, we screened several phenotype-modulating drugs and found that memantine (10 mg/kg disrupted the sense of balance in the mutants. Moreover, the mutant mice showed an attenuated optokinetic response (OKR and impaired OKR learning, which was also observed in wild-type mice treated with memantine. Microsatellite analyses indicated that the Grid2 gene-deletion is responsible for these phenotypes. Patch-clamp analysis showed a relatively small change in NMDA-dependent current in cultured granule cells from Grid2 gene-deleted mice, suggesting that GRID2 is important for correct NMDA receptor function. In general, NMDA receptors are activated after the activation of non-NMDA receptors, such as AMPA receptors, and AMPA receptor dysregulation also occurs in Grid2 mutant mice. Indeed, the AMPA treatment enhanced memantine susceptibility in wild-type mice, which was indicated by balance sense and OKR impairments. The present study explores a new role for GRID2 and highlights the adverse effects of memantine in different genetic backgrounds.

Altered Actions of Memantine and NMDA-Induced Currents in a New Grid2-Deleted Mouse Line

Science.gov (United States)

Kumagai, Ayako; Fujita, Akira; Yokoyama, Tomoki; Nonobe, Yuki; Hasaba, Yasuhiro; Sasaki, Tsutomu; Itoh, Yumi; Koura, Minako; Suzuki, Osamu; Adachi, Shigeki; Ryo, Haruko; Kohara, Arihiro; Tripathi, Lokesh P.; Sanosaka, Masato; Fukushima, Toshiki; Takahashi, Hiroyuki; Kitagawa, Kazuo; Nagaoka, Yasuo; Kawahara, Hidehisa; Mizuguchi, Kenji; Nomura, Taisei; Matsuda, Junichiro; Tabata, Toshihide; Takemori, Hiroshi

2014-01-01

Memantine is a non-competitive antagonist of the N-methyl-d-aspartate (NMDA) receptor, and is an approved drug for the treatment of moderate-to-severe Alzheimer’s disease. We identified a mouse strain with a naturally occurring mutation and an ataxic phenotype that presents with severe leg cramps. To investigate the phenotypes of these mutant mice, we screened several phenotype-modulating drugs and found that memantine (10 mg/kg) disrupted the sense of balance in the mutants. Moreover, the mutant mice showed an attenuated optokinetic response (OKR) and impaired OKR learning, which was also observed in wild-type mice treated with memantine. Microsatellite analyses indicated that the Grid2 gene-deletion is responsible for these phenotypes. Patch-clamp analysis showed a relatively small change in NMDA-dependent current in cultured granule cells from Grid2 gene-deleted mice, suggesting that GRID2 is important for correct NMDA receptor function. In general, NMDA receptors are activated after the activation of non-NMDA receptors, such as AMPA receptors, and AMPA receptor dysregulation also occurs in Grid2 mutant mice. Indeed, the AMPA treatment enhanced memantine susceptibility in wild-type mice, which was indicated by balance sense and OKR impairments. The present study explores a new role for GRID2 and highlights the adverse effects of memantine in different genetic backgrounds. PMID:25513882

Multi-agent chemotherapy overcomes glucocorticoid resistance conferred by a BIM deletion polymorphism in pediatric acute lymphoblastic leukemia.

Directory of Open Access Journals (Sweden)

Sheila Xinxuan Soh

Full Text Available A broad range of anti-cancer agents, including glucocorticoids (GCs and tyrosine kinase inhibitors (TKIs, kill cells by upregulating the pro-apoptotic BCL2 family member, BIM. A common germline deletion in the BIM gene was recently shown to favor the production of non-apoptotic BIM isoforms, and to predict inferior responses in TKI-treated chronic myeloid leukemia (CML and EGFR-driven lung cancer patients. Given that both in vitro and in vivo GC resistance are predictive of adverse outcomes in acute lymphoblastic leukemia (ALL, we hypothesized that this polymorphism would mediate GC resistance, and serve as a biomarker of poor response in ALL. Accordingly, we used zinc finger nucleases to generate ALL cell lines with the BIM deletion, and confirmed the ability of the deletion to mediate GC resistance in vitro. In contrast to CML and lung cancer, the BIM deletion did not predict for poorer clinical outcome in a retrospective analysis of 411 pediatric ALL patients who were uniformly treated with GCs and chemotherapy. Underlying the lack of prognostic significance, we found that the chemotherapy agents used in our cohort (vincristine, L-asparaginase, and methotrexate were each able to induce ALL cell death in a BIM-independent fashion, and resensitize BIM deletion-containing cells to GCs. Together, our work demonstrates how effective therapy can overcome intrinsic resistance in ALL patients, and suggests the potential of using combinations of drugs that work via divergent mechanisms of cell killing to surmount BIM deletion-mediated drug resistance in other cancers.

76 FR 5142 - Procurement List; Additions and Deletion

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2011-01-28

... and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Additions to and deletion from the Procurement List. SUMMARY: This action adds services to the Procurement.... Contracting Activity: Department of Transportation, Federal Aviation Administration, Jamaica, NY. Deletion On...

Deletion 22q13.3 syndrome

Directory of Open Access Journals (Sweden)

Phelan Mary C

2008-05-01

Full Text Available Abstract The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic forms. Due to lack of clinical recognition and often insufficient laboratory testing, the syndrome is under-diagnosed and its true incidence remains unknown. Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewing or mouthing. The loss of 22q13.3 can result from simple deletion, translocation, ring chromosome formation and less common structural changes affecting the long arm of chromosome 22, specifically the region containing the SHANK3 gene. The diagnosis of deletion 22q13 syndrome should be considered in all cases of hypotonia of unknown etiology and in individuals with absent speech. Although the deletion can sometimes be detected by high resolution chromosome analysis, fluorescence in situ hybridization (FISH or array comparative genomic hybridization (CGH is recommended for confirmation. Differential diagnosis includes syndromes associated with hypotonia, developmental delay, speech delay and/or autistic-like affect (Prader-Willi, Angelman, Williams, Smith-Magenis, Fragile X, Sotos, FG, trichorhinophalangeal and velocardiofacial syndromes, autism spectrum disorders, cerebral palsy. Genetic counseling is recommended and parental laboratory studies should be considered to identify cryptic rearrangements and detect parental mosaicism. Prenatal diagnosis should be offered for future pregnancies in those families with inherited rearrangements

78 FR 29119 - Procurement List; Additions and Deletion

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2013-05-17

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Chromosomal deletion, promoter hypermethylation and downregulation of FYN in prostate cancer

DEFF Research Database (Denmark)

Sørensen, Karina Dalsgaard; Borre, Michael; Ørntoft, Torben Falck

2008-01-01

prostate hyperplasia (BPH), as well as in 6 prostate adenocarcinoma cell lines compared with that in BPH-1 cells. By immunohistochemistry, FYN protein was detected in nonmalignant prostate epithelium, but not in cancerous glands. Moreover, genomic bisulfite sequencing revealed frequent aberrant methylation......, consistent with gene silencing, was detected in 2 of 18 tumors (11%). No methylation was found in BPH-1 cells or nonmalignant prostate tissue samples (0 of 7). These results indicate that FYN is downregulated in prostate cancer by both chromosomal deletion and promoter hypermethylation, and therefore...

44 CFR 5.27 - Deletion of identifying details.

Science.gov (United States)

2010-10-01

... 44 Emergency Management and Assistance 1 2010-10-01 2010-10-01 false Deletion of identifying... Availability of General Agency Information, Rules, Orders, Policies, and Similar Material § 5.27 Deletion of..., interpretation, or staff manual or instruction. However, the justification for each deletion will be explained...

An efficient deletion mutant packaging system for defective herpes simplex virus vectors: Potential applications to human gene therapy and neuronal physiology

International Nuclear Information System (INIS)

Geller, A.I.; Keyomarsi, K.; Bryan, J.; Pardee, A.B.

1990-01-01

The authors have previously described a defective herpes simplex virus (HSV-1) vector system that permits that introduction of virtually any gene into nonmitotic cells. pHSVlac, the prototype vector, stably expresses Escherichia coli β-galactosidase from a constitutive promoter in many human cell lines, in cultured rat neurons from throughout the nervous system, and in cells in the adult rat brain. HSV-1 vectors expressing other genes may prove useful for studying neuronal physiology or performing human gene therapy for neurological diseases, such as Parkinson disease or brain tumors. A HSV-1 temperature-sensitive (ts) mutant, ts K, has been used as helper virus; ts mutants revert to wild type. In contrast, HSV-1 deletion mutants essentially cannot revert to wild type; therefore, use of a deletion mutant as helper virus might permit human gene therapy with HSV-1 vectors. They now report an efficient packaging system for HSV-1 VECTORS USING A DELETION MUTANT, d30EBA, as helper virus; virus is grown on the complementing cell line M64A. pHSVlac virus prepared using the deletion mutant packaging system stably expresses β-galactosidase in cultured rat sympathetic neurons and glia. Both D30EBA and ts K contain a mutation in the IE3 gene of HSV-1 strain 17 and have the same phenotype; therefore, changing the helper virus from ts K to D30EBA does not alter the host range or other properties of the HSV-1 vector system

Mercury content in Hot Springs

Energy Technology Data Exchange (ETDEWEB)

Nakagawa, R

1974-01-01

A method of determination of mercury in hot spring waters by flameless atomic absorption spectrophotometry is described. Further, the mercury content and the chemical behavior of the elementary mercury in hot springs are described. Sulfide and iodide ions interfered with the determination of mercury by the reduction-vapor phase technique. These interferences could, however, be minimized by the addition of potassium permanganate. Waters collected from 55 hot springs were found to contain up to 26.0 ppb mercury. High concentrations of mercury have been found in waters from Shimoburo Springs, Aomori (10.0 ppb), Osorezan Springs, Aomori (1.3 approximately 18.8 ppb), Gosyogake Springs, Akita (26.0 ppb), Manza Springs, Gunma (0.30 approximately 19.5 ppb) and Kusatu Springs, Gunma (1.70 approximately 4.50 ppb). These hot springs were acid waters containing a relatively high quantity of chloride or sulfate.

5 CFR 2502.18 - Deletion of exempted information.

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2010-01-01

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78 FR 75912 - Procurement List; Addition and Deletion

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2013-12-13

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2010-01-01

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2013-05-10

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49 CFR 7.6 - Deletion of identifying detail.

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2010-10-01

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Groundwater monitoring strategies at the Weldon Spring site, Weldon Spring, Missouri

International Nuclear Information System (INIS)

Meyer, K.A. Jr.

1988-01-01

This paper presents groundwater monitoring strategies at the Weldon Spring Site in east-central Missouri. The Weldon Spring Site is former ordnance works and uranium processing facility. In 1987, elevated levels of inorganic anions and nitroaromatics were detected in groundwater beneath the site. Studies are currently underway to characterize the hydrogeologic regime and to define groundwater contamination. The complex hydrogeology at the Weldon Spring Site requires innovative monitoring strategies. Combinations of fracture and conduit flow exist in the limestone bedrock. Perched zones are also present near surface impoundments. Losing streams and springs surround the site. Confronting this complex combination of hydrogeologic conditions is especially challenging

A Comparative Study of Quantum and Classical Deletion

International Nuclear Information System (INIS)

Shen Yao; Hao Liang; Long Guilu

2010-01-01

Here in this letter, we study the difference between quantum and classical deletion. We point out that the linear mapping deletion operation used in the impossibility proof for quantum systems applies also to classical system. The general classical deletion operation is a combined operation of measurement and transformation, i.e., first read the state and then transfer the state to the standard blank state. Though both quantum information and classical information can be deleted in an open system, quantum information cannot be recovered while classical information can be recovered. (general)

Conversion of Deletions during Recombination in Pneumococcal Transformation

Science.gov (United States)

Lefevre, J. C.; Mostachfi, P.; Gasc, A. M.; Guillot, E.; Pasta, F.; Sicard, M.

1989-01-01

Genetic analysis of 16 deletions obtained in the amiA locus of pneumococcus is described. When present on donor DNA, all deletions increased drastically the frequency of wild-type recombinants in two-point crosses. This effect was maximal for deletions longer than 200 bases. It was reduced for heterologies shorter than 76 bases and did not exist for very short deletions. In three-point crosses in which the deletion was localized between two point mutations, we demonstrated that this excess of wild-type recombinants was the result of a genetic conversion. This conversion extended over several scores of bases outside the deletion. Conversion takes place during the heteroduplex stage of recombination. Therefore, in pneumococcal transformation, long heterologies participated in this heteroduplex configuration. As this conversion did not require an active DNA polymerase A gene it is proposed that the mechanism of conversion is not a DNA repair synthesis but involves breakage and ligation between DNA molecules. Conversion of deletions did not require the Hex system of correction of mismatched bases. It differs also from localized conversion. It appears that it is a process that evolved to correct errors of replication which lead to long heterologies and which are not eliminated by other systems. PMID:2599365

The Genome Landscape of the African Green Monkey Kidney-Derived Vero Cell Line

Science.gov (United States)

Osada, Naoki; Kohara, Arihiro; Yamaji, Toshiyuki; Hirayama, Noriko; Kasai, Fumio; Sekizuka, Tsuyoshi; Kuroda, Makoto; Hanada, Kentaro

2014-01-01

Continuous cell lines that originate from mammalian tissues serve as not only invaluable tools for life sciences, but also important animal cell substrates for the production of various types of biological pharmaceuticals. Vero cells are susceptible to various types of microbes and toxins and have widely contributed to not only microbiology, but also the production of vaccines for human use. We here showed the genome landscape of a Vero cell line, in which 25,877 putative protein-coding genes were identified in the 2.97-Gb genome sequence. A homozygous ∼9-Mb deletion on chromosome 12 caused the loss of the type I interferon gene cluster and cyclin-dependent kinase inhibitor genes in Vero cells. In addition, an ∼59-Mb loss of heterozygosity around this deleted region suggested that the homozygosity of the deletion was established by a large-scale conversion. Moreover, a genomic analysis of Vero cells revealed a female Chlorocebus sabaeus origin and proviral variations of the endogenous simian type D retrovirus. These results revealed the genomic basis for the non-tumourigenic permanent Vero cell lineage susceptible to various pathogens and will be useful for generating new sub-lines and developing new tools in the quality control of Vero cells. PMID:25267831

36 CFR 1275.58 - Deletion of restricted portions.

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2010-07-01

... 36 Parks, Forests, and Public Property 3 2010-07-01 2010-07-01 false Deletion of restricted... HISTORICAL MATERIALS OF THE NIXON ADMINISTRATION Access by the Public § 1275.58 Deletion of restricted... materials after the deletion of the portions which are restricted under this § 1275.50 or § 1275.52. ...

75 FR 69638 - Procurement List; Additions and Deletion

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2010-11-15

... and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Additions to and deletion from the Procurement List. SUMMARY: This action adds products and a service to the...), DENVER, CO. Deletion On 9/17/2010 (75 FR 56995-56996), the Committee for Purchase From People Who Are...

Genetics Home Reference: proximal 18q deletion syndrome

Science.gov (United States)

... characteristic features. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a ... J, Fox PT, Stratton RF, Perry B, Hale DE. Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay. Am J Med Genet ...

Visit to valuable water springs. 22. ; Kanazawa spring and springs at the mountain flank of Iwate volcano. Meisui wo tazunete. 22. ; Kanazawa shimizu to Iwate sanroku yusuigun

Energy Technology Data Exchange (ETDEWEB)

Itadera, K. (Kanagawa Hot Springs Research Institute, Kanagawa (Japan)); Shimano, Y. (Utsunomiya Bunsei Junior College, Tochigi (Japan))

1993-06-30

This paper describes the following matters on the springs at the mountain flank of Iwate volcano in Iwate Prefecture, with the Kanazawa spring as the main subject: The new and old Iwate volcanos have rock-bed flow deposits which resulted from mountain disintegration, distributed over their south, east and north flanks, and most of the spring water wells up in these areas; the south, east and north flanks have about 80 springs, about 30 springs, and about 10 springs, respectively; the number of springs and the water well-up scale show a trend of inverse proportion; the Kanazawa spring is a generic name of the several springs located on the north flank in the Kanazawa area; its main spring forms a spring pond with an area of about 100 m[sup 2] with a spring water temperature of about 11.5[degree]C, electric conductivity of 200 [mu] S/cm or higher, and a flow-out rate of 500 l/s or more; the Kanazawa spring is characterized by having as large total dissolved component amount as 170 mg/l or more and abundant amount of SO4[sup 2-] and Cl[sup -]; and the spring presents properties different from those in other springs. 10 refs., 5 figs., 1 tab.

The diagnosis and molecular analysis of a novel 21.9kb deletion (Qinzhou type deletion) causing α+ thalassemia.

Science.gov (United States)

Long, Ju; Yan, Shanhuo; Lao, Kegan; Pang, Wanrong; Ye, Xuehe; Sun, Lei

2014-04-01

α-Thalassemia is a common single-gene genetic disease that can cause Hb Bart's hydrops fetalis and Hb H disease in tropical and subtropical regions. When examining conventional thalassemia genes, an only detected --(SEA) genotype sample needs further analysis. In doing so, we found a novel 21.9kb deletion (Qinzhou type deletion). The deletion position of the novel 21.9kb deletion is from 14373bp to 36299bp of the α-globin gene cluster (NG_000006.1); thus, there exists a 21927bp sequence deletion, into which a 29bp sequence is added. After sequence analysis, a group of Gap-PCR primers were synthesized to diagnose this novel thalassemia genotype. Through pedigree analysis, we deduced that the propositus obtained the novel alleles from her mother. The genotype of this propositus is --(SEA)/-α(21.9) and its phenotype conforms to the characteristics of Hb H disease, establishing that the combination between -α(21.9) genotype and α(0) genotype can lead to Hb H disease. By molecular analysis, we established that this case fits the characteristic of an α(+) thalassemia genotype. © 2013.

Fast detection of deletion breakpoints using quantitative PCR

Directory of Open Access Journals (Sweden)

Gulshara Abildinova

2016-01-01

Full Text Available Abstract The routine detection of large and medium copy number variants (CNVs is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophy DMD gene responsible for Duchenne and Becker muscular dystrophies are routinely identified using multiple ligation probe amplification and array-based comparative genomic hybridization. These methods only map deleted or duplicated exons, without providing the exact location of breakpoints. Commonly used methods for the detection of CNV breakpoints include long-range PCR and primer walking, their success being limited by the deletion size, GC content and presence of DNA repeats. Here, we present a strategy for detecting the breakpoints of medium and large CNVs regardless of their size. The hemizygous deletion of exons 45-50 in the DMD gene and the large autosomal heterozygous PARK2 deletion were used to demonstrate the workflow that relies on real-time quantitative PCR to narrow down the deletion region and Sanger sequencing for breakpoint confirmation. The strategy is fast, reliable and cost-efficient, making it amenable to widespread use in genetic laboratories.

Detection of genomic deletions in rice using oligonucleotide microarrays

Directory of Open Access Journals (Sweden)

Bordeos Alicia

2009-03-01

Full Text Available Abstract Background The induction of genomic deletions by physical- or chemical- agents is an easy and inexpensive means to generate a genome-saturating collection of mutations. Different mutagens can be selected to ensure a mutant collection with a range of deletion sizes. This would allow identification of mutations in single genes or, alternatively, a deleted group of genes that might collectively govern a trait (e.g., quantitative trait loci, QTL. However, deletion mutants have not been widely used in functional genomics, because the mutated genes are not tagged and therefore, difficult to identify. Here, we present a microarray-based approach to identify deleted genomic regions in rice mutants selected from a large collection generated by gamma ray or fast neutron treatment. Our study focuses not only on the utility of this method for forward genetics, but also its potential as a reverse genetics tool through accumulation of hybridization data for a collection of deletion mutants harboring multiple genetic lesions. Results We demonstrate that hybridization of labeled genomic DNA directly onto the Affymetrix Rice GeneChip® allows rapid localization of deleted regions in rice mutants. Deletions ranged in size from one gene model to ~500 kb and were predicted on all 12 rice chromosomes. The utility of the technique as a tool in forward genetics was demonstrated in combination with an allelic series of mutants to rapidly narrow the genomic region, and eventually identify a candidate gene responsible for a lesion mimic phenotype. Finally, the positions of mutations in 14 mutants were aligned onto the rice pseudomolecules in a user-friendly genome browser to allow for rapid identification of untagged mutations http://irfgc.irri.org/cgi-bin/gbrowse/IR64_deletion_mutants/. Conclusion We demonstrate the utility of oligonucleotide arrays to discover deleted genes in rice. The density and distribution of deletions suggests the feasibility of a

Spring integration essentials

CERN Document Server

Pandey, Chandan

2015-01-01

This book is intended for developers who are either already involved with enterprise integration or planning to venture into the domain. Basic knowledge of Java and Spring is expected. For newer users, this book can be used to understand an integration scenario, what the challenges are, and how Spring Integration can be used to solve it. Prior experience of Spring Integration is not expected as this book will walk you through all the code examples.

Getting started with Spring Framework a hands-on guide to begin developing applications using Spring Framework

CERN Document Server

Sharma, J

2016-01-01

Getting started with Spring Framework is a hands-on guide to begin developing applications using Spring Framework. The examples (consisting of 74 sample projects) that accompany this book are based on Spring 4.3 and Java 8. You can download the examples described in this book from the following GitHub project:github.com/getting-started-with-spring/3rdEdition This book is meant for Java developers with little or no knowledge of Spring Framework. Getting started with Spring Framework, Third Edition has been updated to reflect changes in Spring 4.3 and also includes new chapters on Java-based configuration and Spring Data (covers Spring Data JPA and Spring Data MongoDB projects). The existing chapters have been revised to include information on Java-based configuration. The book also includes some new information on bean definition profiles, importing application context XML files, lazy autowiring, creating custom qualifier annotations, JSR 349 annotations, spring-messaging module, Java 8's Optional type, and s...

The source, discharge, and chemical characteristics of water from Agua Caliente Spring, Palm Springs, California

Science.gov (United States)

Contributors: Brandt, Justin; Catchings, Rufus D.; Christensen, Allen H.; Flint, Alan L.; Gandhok, Gini; Goldman, Mark R.; Halford, Keith J.; Langenheim, V.E.; Martin, Peter; Rymer, Michael J.; Schroeder, Roy A.; Smith, Gregory A.; Sneed, Michelle; Martin, Peter

2011-01-01

Agua Caliente Spring, in downtown Palm Springs, California, has been used for recreation and medicinal therapy for hundreds of years and currently (2008) is the source of hot water for the Spa Resort owned by the Agua Caliente Band of the Cahuilla Indians. The Agua Caliente Spring is located about 1,500 feet east of the eastern front of the San Jacinto Mountains on the southeast-sloping alluvial plain of the Coachella Valley. The objectives of this study were to (1) define the geologic structure associated with the Agua Caliente Spring; (2) define the source(s), and possibly the age(s), of water discharged by the spring; (3) ascertain the seasonal and longer-term variability of the natural discharge, water temperature, and chemical characteristics of the spring water; (4) evaluate whether water-level declines in the regional aquifer will influence the temperature of the spring discharge; and, (5) estimate the quantity of spring water that leaks out of the water-collector tank at the spring orifice.

29 CFR 1610.20 - Deletion of exempted matters.

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2010-07-01

... 29 Labor 4 2010-07-01 2010-07-01 false Deletion of exempted matters. 1610.20 Section 1610.20 Labor... Production or Disclosure Under 5 U.S.C. 552 § 1610.20 Deletion of exempted matters. Where requested records... the remainder of the records, they shall be disclosed by the Commission with deletions. To each such...

Spring plant phenology and false springs in the conterminous US during the 21st century

Science.gov (United States)

Allstadt, Andrew J.; Vavrus, Stephen J.; Heglund, Patricia J.; Pidgeon, Anna M.; Thogmartin, Wayne E.; Radeloff, Volker C.

2015-01-01

The onset of spring plant growth has shifted earlier in the year over the past several decades due to rising global temperatures. Earlier spring onset may cause phenological mismatches between the availability of plant resources and dependent animals, and potentially lead to more false springs, when subsequent freezing temperatures damage new plant growth. We used the extended spring indices to project changes in spring onset, defined by leaf out and by first bloom, and predicted false springs until 2100 in the conterminous United States (US) using statistically-downscaled climate projections from the Coupled Model Intercomparison Project 5 ensemble. Averaged over our study region, the median shift in spring onset was 23 days earlier in the Representative Concentration Pathway 8.5 scenario with particularly large shifts in the Western US and the Great Plains. Spatial variation in phenology was due to the influence of short-term temperature changes around the time of spring onset versus season long accumulation of warm temperatures. False spring risk increased in the Great Plains and portions of the Midwest, but remained constant or decreased elsewhere. We conclude that global climate change may have complex and spatially variable effects on spring onset and false springs, making local predictions of change difficult.

Cell lines that support replication of a novel herpes simplex virus 1 UL31 deletion mutant can properly target UL34 protein to the nuclear rim in the absence of UL31

International Nuclear Information System (INIS)

Liang Li; Tanaka, Michiko; Kawaguchi, Yasushi; Baines, Joel D.

2004-01-01

Previous results indicated that the herpes simplex virus 1 (HSV-1) U L 31 gene is necessary and sufficient for localization of the U L 34 protein exclusively to the nuclear membrane of infected Hep2 cells. In the current studies, a bacterial artificial chromosome containing the entire HSV-1 strain F genome was used to construct a recombinant viral genome in which a gene encoding kanamycin resistance was inserted in place of 262 codons of the 306 codon U L 31 open reading frame. The deletion virus produced virus titers approximately 10- to 50-fold lower in rabbit skin cells, more than 2000-fold lower in Vero cells, and more than 1500-fold lower in CV1 cells, compared to a virus bearing a restored U L 31 gene. The replication of the U L 31 deletion virus was restored on U L 31-complementing cell lines derived either from rabbit skin cells or CV1 cells. Confocal microscopy indicated that the majority of U L 34 protein localized aberrantly in the cytoplasm and nucleoplasm of Vero cells and CV1 cells, whereas U L 34 protein localized at the nuclear membrane in rabbit skin cells, and U L 31 complementing CV1 cells infected with the U L 31 deletion virus. We conclude that rabbit skin cells encode a function that allows proper localization of U L 34 protein to the nuclear membrane. We speculate that this function partially complements that of U L 31 and may explain why U L 31 is less critical for replication in rabbit skin cells as opposed to Vero and CV1 cells

Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions

Science.gov (United States)

Rocha, Mariana C.; Rosa, Hannah S.; Grady, John P.; Blakely, Emma L.; He, Langping; Romain, Nadine; Haller, Ronald G.; Newman, Jane; McFarland, Robert; Ng, Yi Shiau; Gorman, Grainne S.; Schaefer, Andrew M.; Tuppen, Helen A.; Taylor, Robert W.

2018-01-01

Objective Single, large‐scale deletions in mitochondrial DNA (mtDNA) are a common cause of mitochondrial disease. This study aimed to investigate the relationship between the genetic defect and molecular phenotype to improve understanding of pathogenic mechanisms associated with single, large‐scale mtDNA deletions in skeletal muscle. Methods We investigated 23 muscle biopsies taken from adult patients (6 males/17 females with a mean age of 43 years) with characterized single, large‐scale mtDNA deletions. Mitochondrial respiratory chain deficiency in skeletal muscle biopsies was quantified by immunoreactivity levels for complex I and complex IV proteins. Single muscle fibers with varying degrees of deficiency were selected from 6 patient biopsies for determination of mtDNA deletion level and copy number by quantitative polymerase chain reaction. Results We have defined 3 “classes” of single, large‐scale deletion with distinct patterns of mitochondrial deficiency, determined by the size and location of the deletion. Single fiber analyses showed that fibers with greater respiratory chain deficiency harbored higher levels of mtDNA deletion with an increase in total mtDNA copy number. For the first time, we have demonstrated that threshold levels for complex I and complex IV deficiency differ based on deletion class. Interpretation Combining genetic and immunofluorescent assays, we conclude that thresholds for complex I and complex IV deficiency are modulated by the deletion of complex‐specific protein‐encoding genes. Furthermore, removal of mt‐tRNA genes impacts specific complexes only at high deletion levels, when complex‐specific protein‐encoding genes remain. These novel findings provide valuable insight into the pathogenic mechanisms associated with these mutations. Ann Neurol 2018;83:115–130 PMID:29283441

Inhibition of spring viraemia of carp virus replication in an Epithelioma papulosum cyprini cell line by RNAi.

Science.gov (United States)

Gotesman, M; Soliman, H; Besch, R; El-Matbouli, M

2015-02-01

Spring viraemia of carp virus (SVCV) is an aetiological agent of a serious disease affecting carp farms in Europe and is a member of the Rhabdoviridae family of viruses. The genome of SVCV codes for five proteins: nucleoprotein (N), phosphoprotein (P), matrix protein (M), glycoprotein (G) and RNA-dependent RNA polymerase (L). RNA-mediated interference (RNAi) by small interfering RNAs (siRNAs) is a powerful tool to inhibit gene transcription and is used to study genes important for viral replication. In previous studies regarding another member of Rhabdoviridae, siRNA inhibition of the rabies virus nucleoprotein gene provided in vitro and in vivo protection against rabies. In this study, synthetic siRNA molecules were designed to target SVCV-N and SVCV-P transcripts to inhibit SVCV replication and were tested in an epithelioma papulosum cyprini (EPC) cell line. Inhibition of gene transcription was measured by real-time quantitative reverse-transcription PCR (RT-qPCR). The efficacy of using siRNA for inhibition of viral replication was analysed by RT-qPCR measurement of a reporter gene (glycoprotein) expression and by virus endpoint titration. Inhibition of nucleoprotein and phosphoprotein gene expression by siRNA reduced SVCV replication. However, use of tandem siRNAs that target phosphoprotein and nucleoprotein worked best at reducing SVCV replication. © 2014 The Authors. Journal of Fish Diseases published by John Wiley & Sons Ltd.

Probabilistic deletion of copies of linearly independent quantum states

International Nuclear Information System (INIS)

Feng Jian; Gao Yunfeng; Wang Jisuo; Zhan Mingsheng

2002-01-01

We show that each of two copies of the nonorthogonal states randomly selected from a certain set S can be probabilistically deleted by a general unitary-reduction operation if and only if the states are linearly independent. We derive a tight bound on the best possible deleting efficiencies. These results for 2→1 probabilistic deleting are also generalized into the case of N→M deleting (N,M positive integers and N>M)

ATLAS DQ2 Deletion Service

International Nuclear Information System (INIS)

Oleynik, Danila; Petrosyan, Artem; Garonne, Vincent; Campana, Simone

2012-01-01

The ATLAS Distributed Data Management project DQ2 is responsible for the replication, access and bookkeeping of ATLAS data across more than 100 distributed grid sites. It also enforces data management policies decided on by the collaboration and defined in the ATLAS computing model. The DQ2 Deletion Service is one of the most important DDM services. This distributed service interacts with 3rd party grid middleware and the DQ2 catalogues to serve data deletion requests on the grid. Furthermore, it also takes care of retry strategies, check-pointing transactions, load management and fault tolerance. In this paper special attention is paid to the technical details which are used to achieve the high performance of service, accomplished without overloading either site storage, catalogues or other DQ2 components. Special attention is also paid to the deletion monitoring service that allows operators a detailed view of the working system.

Genomic and transcriptomic alterations in Leishmania donovani lines experimentally resistant to antileishmanial drugs.

Science.gov (United States)

Rastrojo, Alberto; García-Hernández, Raquel; Vargas, Paola; Camacho, Esther; Corvo, Laura; Imamura, Hideo; Dujardin, Jean-Claude; Castanys, Santiago; Aguado, Begoña; Gamarro, Francisco; Requena, Jose M

2018-04-13

Leishmaniasis is a serious medical issue in many countries around the World, but it remains largely neglected in terms of research investment for developing new control and treatment measures. No vaccines exist for human use, and the chemotherapeutic agents currently used are scanty. Furthermore, for some drugs, resistance and treatment failure are increasing to alarming levels. The aim of this work was to identify genomic and trancriptomic alterations associated with experimental resistance against the common drugs used against VL: trivalent antimony (Sb III , S line), amphotericin B (AmB, A line), miltefosine (MIL, M line) and paromomycin (PMM, P line). A total of 1006 differentially expressed transcripts were identified in the S line, 379 in the A line, 146 in the M line, and 129 in the P line. Also, changes in ploidy of chromosomes and amplification/deletion of particular regions were observed in the resistant lines regarding the parental one. A series of genes were identified as possible drivers of the resistance phenotype and were validated in both promastigotes and amastigotes from Leishmania donovani, Leishmania infantum and Leishmania major species. Remarkably, a deletion of the gene LinJ.36.2510 (coding for 24-sterol methyltransferase, SMT) was found to be associated with AmB-resistance in the A line. In the P line, a dramatic overexpression of the transcripts LinJ.27.T1940 and LinJ.27.T1950 that results from a massive amplification of the collinear genes was suggested as one of the mechanisms of PMM resistance. This conclusion was reinforced after transfection experiments in which significant PMM-resistance was generated in WT parasites over-expressing either gene LinJ.27.1940 (coding for a D-lactate dehydrogenase-like protein, D-LDH) or gene LinJ.27.1950 (coding for an aminotransferase of branched-chain amino acids, BCAT). This work allowed to identify new drivers, like SMT, the deletion of which being associated with resistance to AmB, and the tandem D

Agronomic performance of new open pollinated experimental lines of broccoli (Brassica oleracea L. var. italica evaluated under organic farming.

Directory of Open Access Journals (Sweden)

Samira Sahamishirazi

Full Text Available In order to develop new open pollinating cultivars of broccoli for organic farming, two experiments were conducted during fall 2015 and spring 2016. This study was aimed at comparing the agronomic performance of eleven new open pollinating breeding lines of broccoli to introduce new lines and to test their seasonal suitability for organic farming. Field experiments were carried out at the organic research station Kleinhohenheim of the University of Hohenheim (Stuttgart-Germany. Different agronomic traits total biomass fresh weight, head fresh weight, head diameter, hollow-stem, fresh weight harvest index and marketable yield were assessed together with commercial control cultivars. The data from both experiments were analyzed using a two-stage mixed model approach. In our study, genotype, growing season and their interaction had significant effects on most traits. Plants belonging to the fall growing season had bigger sizes in comparison to spring with significantly (p< 0.0001 higher biomass fresh weight. Some experimental lines had significant lower head fresh weight in spring in comparison to the fall season. The high temperature during the harvest period for the spring season affected the yield negatively through decreasing the firmness of broccoli heads. The low average minimum temperatures during the spring growing season lead to low biomass fresh weight but high fresh weight harvest index. Testing the seasonal suitability of all open pollinating lines showed that the considered fall season was better for broccoli production. However, the change in yield between the fall and the spring growing season was not significant for "Line 701" and "CHE-MIC". Considering the expression of different agronomic traits, "CHE-GRE-G", "Calinaro" and "CAN-SPB" performed the best in the fall growing season, and "CHE-GRE-G", "CHE-GRE-A", "CHE-BAL-A" and "CHE-MIC" and "Line 701" were best in the spring growing season, specifically due to the highest marketable

An analysis of possible off target effects following CAS9/CRISPR targeted deletions of neuropeptide gene enhancers from the mouse genome.

Science.gov (United States)

Hay, Elizabeth Anne; Khalaf, Abdulla Razak; Marini, Pietro; Brown, Andrew; Heath, Karyn; Sheppard, Darrin; MacKenzie, Alasdair

2017-08-01

We have successfully used comparative genomics to identify putative regulatory elements within the human genome that contribute to the tissue specific expression of neuropeptides such as galanin and receptors such as CB1. However, a previous inability to rapidly delete these elements from the mouse genome has prevented optimal assessment of their function in-vivo. This has been solved using CAS9/CRISPR genome editing technology which uses a bacterial endonuclease called CAS9 that, in combination with specifically designed guide RNA (gRNA) molecules, cuts specific regions of the mouse genome. However, reports of "off target" effects, whereby the CAS9 endonuclease is able to cut sites other than those targeted, limits the appeal of this technology. We used cytoplasmic microinjection of gRNA and CAS9 mRNA into 1-cell mouse embryos to rapidly generate enhancer knockout mouse lines. The current study describes our analysis of the genomes of these enhancer knockout lines to detect possible off-target effects. Bioinformatic analysis was used to identify the most likely putative off-target sites and to design PCR primers that would amplify these sequences from genomic DNA of founder enhancer deletion mouse lines. Amplified DNA was then sequenced and blasted against the mouse genome sequence to detect off-target effects. Using this approach we were unable to detect any evidence of off-target effects in the genomes of three founder lines using any of the four gRNAs used in the analysis. This study suggests that the problem of off-target effects in transgenic mice have been exaggerated and that CAS9/CRISPR represents a highly effective and accurate method of deleting putative neuropeptide gene enhancer sequences from the mouse genome. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

DEFF Research Database (Denmark)

Bisgaard, A-M; Kirchhoff, M; Nielsen, J E

2008-01-01

A deletion on one chromosome and a mutant allele on the other may cause an autosomal recessive disease. We report on two patients with mental retardation, dysmorphic features and low catalytic activity of arylsulfatase A. One patient had a pathogenic mutation in the arylsulfatase A gene (ARSA......) and succumbed to metachromatic leukodystrophy (MLD). The other patient had a pseudoallele, which does not lead to MLD. The presenting clinical features and low arylsulfatase A activity were explained, in each patients, by a deletion of 22q13 and, thereby, of one allele of ARSA....

Detection of large deletion in human BRCA1 gene in human breast carcinoma MCF-7 cells by using DNA-Silver Nanoclusters

Science.gov (United States)

Borghei, Yasaman-Sadat; Hosseini, Morteza; Ganjali, Mohammad Reza

2018-01-01

Here we describe a label-free detection strategy for large deletion mutation in breast cancer (BC) related gene BRCA1 based on a DNA-silver nanocluster (NC) fluorescence upon recognition-induced hybridization. The specific hybridization of DNA templated silver NCs fluorescent probe to target DNAs can act as effective templates for enhancement of AgNCs fluorescence, which can be used to distinguish the deletion of BRCA1 due to different fluorescence intensities. Under the optimal conditions, the fluorescence intensity of the DNA-AgNCs at emission peaks around 440 nm (upon excitation at 350 nm) increased with the increasing deletion type within a dynamic range from 1.0 × 10-10 to 2.4 × 10-6 M with a detection limit (LOD) of 6.4 × 10-11 M. In this sensing system, the normal type shows no significant fluorescence; on the other hand, the deletion type emits higher fluorescence than normal type. Using this nanobiosensor, we successfully determined mutation using the non-amplified genomic DNAs that were isolated from the BC cell line.

75 FR 56995 - Procurement List Proposed Additions and Deletion

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2010-09-17

... Additions and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed Additions to and Deletion From the Procurement List. SUMMARY: The Committee is proposing to add... aggregated by the Defense Logistics Agency Troop Support, Philadelphia, PA. Deletion Regulatory Flexibility...

76 FR 60810 - Procurement List; Proposed Additions and Deletion

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2011-09-30

... Additions and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed Additions to and Deletion from the Procurement List. SUMMARY: The Committee is proposing to add... Activity: Department of Energy, Idaho Operations Office, Idaho Falls, ID. DELETION Regulatory Flexibility...

Ground water monitoring strategies at the Weldon Spring Site, Weldon Spring, Missouri

International Nuclear Information System (INIS)

Meyer, K.A. Jr.

1988-01-01

This paper presents ground water monitoring strategies at the Weldon Spring Site in east-central Missouri. The Weldon Spring Site is a former ordnance works and uranium processing facility. In 1987, elevated levels of inorganic anions and nitroaromatics were detected in ground water beneath the site. Studies are currently underway to characterize the hydrogeologic regime and to define ground water contamination. The complex hydrogeology at the Weldon Spring Site requires innovative monitoring strategies. Combinations of fracture and conduit flow exist in the limestone bedrock. Perched zones are also present near surface impoundments. Losing streams and springs surround the site. Solving this complex combination of hydrogeologic conditions is especially challenging

Optimum Design of a Coil Spring for Improving the Performance of a Spring -Operated Mechanism

International Nuclear Information System (INIS)

Lee, Dae Woo; Sohn, Jeong Hyun; Yoo, Wan Suk

2016-01-01

In this study, a release test bed is designed to evaluate the dynamic behaviors of a coil spring. From the release tests, the dynamic behaviors of a coil spring are analyzed. A lumped parameter spring model was established for numerical simulation of a spring. The design variables of a coil spring are optimized by using the design of experiments approach. Two-level factorial designs are used for the design optimization, and the primary effects of the design variables are analyzed. Based on the results of the interaction analysis and design sensitivity analysis, the level of the design variables is rearranged. Finally, the mixed-level factorial design is used for the optimum design process. According to the optimum design of the opening spring, the dynamic performance of the spring-operated mechanism increases by 2.90

Are there ethnic differences in deletions in the dystrophin gene?

Energy Technology Data Exchange (ETDEWEB)

Banerjee, M.; Verma, I.C. [All India Inst. of Medical Sciences, New Delhi (India)

1997-01-20

We studied 160 cases of Duchenne muscular dystrophy (DMD) drawn from all parts of India, using multiplex PCR of 27 exons. Of these, 103 (64.4%) showed intragenic deletions. Most (69.7%) of the deletions involved exons 45-51. The phenotype of cases with deletion of single exons did not differ significantly from those with deletion of multiple exons. The distribution of deletions in studies from different countries was variable, but this was accounted for either by the small number of cases studied, or by fewer exons analyzed. It is concluded that there is likely to be no ethnic difference with respect to deletions in the DMD gene. 38 refs., 2 figs., 3 tabs.

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.

Science.gov (United States)

Flynn, Elizabeth K; Kamat, Aparna; Lach, Francis P; Donovan, Frank X; Kimble, Danielle C; Narisu, Narisu; Sanborn, Erica; Boulad, Farid; Davies, Stella M; Gillio, Alfred P; Harris, Richard E; MacMillan, Margaret L; Wagner, John E; Smogorzewska, Agata; Auerbach, Arleen D; Ostrander, Elaine A; Chandrasekharappa, Settara C

2014-11-01

Fanconi anemia (FA) is a rare recessive disease resulting from mutations in one of at least 16 different genes. Mutation types and phenotypic manifestations of FA are highly heterogeneous and influence the clinical management of the disease. We analyzed 202 FA families for large deletions, using high-resolution comparative genome hybridization arrays, single-nucleotide polymorphism arrays, and DNA sequencing. We found pathogenic deletions in 88 FANCA, seven FANCC, two FANCD2, and one FANCB families. We find 35% of FA families carry large deletions, accounting for 18% of all FA pathogenic variants. Cloning and sequencing across the deletion breakpoints revealed that 52 FANCA deletion ends, and one FANCC deletion end extended beyond the gene boundaries, potentially affecting neighboring genes with phenotypic consequences. Seventy-five percent of the FANCA deletions are Alu-Alu mediated, predominantly by AluY elements, and appear to be caused by nonallelic homologous recombination. Individual Alu hotspots were identified. Defining the haplotypes of four FANCA deletions shared by multiple families revealed that three share a common ancestry. Knowing the exact molecular changes that lead to the disease may be critical for a better understanding of the FA phenotype, and to gain insight into the mechanisms driving these pathogenic deletion variants. © 2014 WILEY PERIODICALS, INC.

De novo interstitial deletions of 9q22.1-22.3 in two unrelated cases with different phenotype

Energy Technology Data Exchange (ETDEWEB)

Mohamed, A.N.; Bawle, E.; Conard, J. [Wayne State Univ., Detroit, MI (United States)] [and others

1994-09-01

Deletions involving the long arm of chromosome 9 are rare. A recent review, particularly with deletions of 9q22-32 region, failed to recognize a distinct pattern of dysmorphies and malformations. Herein, we described two phenotypically abnormal unrelated cases with interstitial deletion of chromosome 9 at band q22.1-q22.3. Parents of both cases exhibited normal karyotypes, indicating that the deletions were de novo events. Therefore, the clinical features present in these two cases can be attributed to partial monosomy for the deleted band 9q22. The first case was a 2-day-old baby with ambiguous genitalia, hydrocephalus, cleft palate and lip, polycystic kidney, absence of uterus on ultrasound and one gonad in the labiosacral region. Chromosome analysis showed a male karyotype, 46,XY,del(9)(q22.1q22.3). The absence of monosomy X cell line and the normal histology of testicular tissue were against the diagnosis of mixed gonadal dysgenesis or XY gonadal dysgenesis. The second 3-day-old newborn baby girl presented with right side hypoplastic heart and pulmonary atresia. In addition, the patient showed multiple dysmorphic features including epicanthal fold, low-set ears, depressed nasal bridge, hypertelorism, and micrognathia. The uvula is absent with slight cleft palate. Bilateral clinodactyly of 5th fingers and severe club feet were also present. The external genitalia was of a normal female phenotype. Chromosome study also indicated interstatial deletion of band 9q22. Although both cases appeared to have the same chromosomal anomalies, neither a discrete facial appearance nor a common pattern of malformations was noted.

The significance of chromosome deletions in atomic-bomb survivors

International Nuclear Information System (INIS)

Tanaka, Kimio; Shigeta, Chiharu; Oguma, Nobuo; Kamada, Nanao; Deng, Z.; Niimi, Masanobu; Aisaka, Tadaichi.

1986-01-01

In 39 A-bomb survivors 40 years after exposure at ≤ 1,000 m from ground zero, the frequency and features of chromosome deletions in peripheral lymphocytes were examined using a differential staining technique. Simultaneously, in vitro irradiation experiment with Cf-252 was made to infer chromosome aberrations occuring immediately after exposure. Californium-252 with 100 rad induced dicentric and ring chromosomes in 40 % of the cells and acentric fragments in 44 %. Among the A-bomb survivors, chromosome aberrations were observed in 651 (21 %) of the total 3,136 cells. There were 146 cells with deletions (22 % of abnormal cells; 5 % of the total cells), and 10 cells with acentric fragment (0.3 % of the total cells). The figure for deletions was far higher than that reported in the literature. A large number of deletions were seen in chromosomes no.4, no.21, and no.22, and a few deletions in chromosomes no.7 and no.20. Significance of chromosome deletions is discussed. (Namekawa, K.)

Selfish little circles: transmission bias and evolution of large deletion-bearing mitochondrial DNA in Caenorhabditis briggsae nematodes.

Directory of Open Access Journals (Sweden)

Katie A Clark

Full Text Available Selfish DNA poses a significant challenge to genome stability and organismal fitness in diverse eukaryotic lineages. Although selfish mitochondrial DNA (mtDNA has known associations with cytoplasmic male sterility in numerous gynodioecious plant species and is manifested as petite mutants in experimental yeast lab populations, examples of selfish mtDNA in animals are less common. We analyzed the inheritance and evolution of mitochondrial DNA bearing large heteroplasmic deletions including nad5 gene sequences (nad5Δ mtDNA, in the nematode Caenorhabditis briggsae. The deletion is widespread in C. briggsae natural populations and is associated with deleterious organismal effects. We studied the inheritance patterns of nad5Δ mtDNA using eight sets of C. briggsae mutation-accumulation (MA lines, each initiated from a different natural strain progenitor and bottlenecked as single hermaphrodites across generations. We observed a consistent and strong drive toward higher levels of deletion-bearing molecules in the heteroplasmic pool of mtDNA after ten generations of bottlenecking. Our results demonstrate a uniform transmission bias whereby nad5Δ mtDNA accumulates to higher levels relative to intact mtDNA in multiple genetically diverse natural strains of C. briggsae. We calculated an average 1% per-generation transmission bias for deletion-bearing mtDNA relative to intact genomes. Our study, coupled with known deleterious phenotypes associated with high deletion levels, shows that nad5Δ mtDNA are selfish genetic elements that have evolved in natural populations of C. briggsae, offering a powerful new system to study selfish mtDNA dynamics in metazoans.

Selfish Little Circles: Transmission Bias and Evolution of Large Deletion-Bearing Mitochondrial DNA in Caenorhabditis briggsae Nematodes

Science.gov (United States)

Clark, Katie A.; Howe, Dana K.; Gafner, Kristin; Kusuma, Danika; Ping, Sita; Estes, Suzanne; Denver, Dee R.

2012-01-01

Selfish DNA poses a significant challenge to genome stability and organismal fitness in diverse eukaryotic lineages. Although selfish mitochondrial DNA (mtDNA) has known associations with cytoplasmic male sterility in numerous gynodioecious plant species and is manifested as petite mutants in experimental yeast lab populations, examples of selfish mtDNA in animals are less common. We analyzed the inheritance and evolution of mitochondrial DNA bearing large heteroplasmic deletions including nad5 gene sequences (nad5Δ mtDNA), in the nematode Caenorhabditis briggsae. The deletion is widespread in C. briggsae natural populations and is associated with deleterious organismal effects. We studied the inheritance patterns of nad5Δ mtDNA using eight sets of C. briggsae mutation-accumulation (MA) lines, each initiated from a different natural strain progenitor and bottlenecked as single hermaphrodites across generations. We observed a consistent and strong drive toward higher levels of deletion-bearing molecules in the heteroplasmic pool of mtDNA after ten generations of bottlenecking. Our results demonstrate a uniform transmission bias whereby nad5Δ mtDNA accumulates to higher levels relative to intact mtDNA in multiple genetically diverse natural strains of C. briggsae. We calculated an average 1% per-generation transmission bias for deletion-bearing mtDNA relative to intact genomes. Our study, coupled with known deleterious phenotypes associated with high deletion levels, shows that nad5Δ mtDNA are selfish genetic elements that have evolved in natural populations of C. briggsae, offering a powerful new system to study selfish mtDNA dynamics in metazoans. PMID:22859984

75 FR 7450 - Procurement List: Proposed Addition and Deletion

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2010-02-19

... Addition and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed addition to and deletion from Procurement List. SUMMARY: The Committee is proposing to add to the... W6BA ACA, FT CARSON, COLORADO. Deletion Regulatory Flexibility Act Certification I certify that the...

77 FR 20795 - Procurement List Proposed Addition and Deletion

Science.gov (United States)

2012-04-06

... Addition and Deletion AGENCY: Committee for Purchase From People Who Are Blind or Severely Disabled. ACTION: Proposed Addition to and Deletion from the Procurement List. SUMMARY: The Committee is proposing to add a.... Deletion Regulatory Flexibility Act Certification I certify that the following action will not have a...

9q22 Deletion - First Familial Case

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Yamamoto Toshiyuki

2011-06-01

Full Text Available Abstract Background Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400 due to haploinsufficiency of the PTCH1 gene (MIM *601309. Methods and Results We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, detected by array CGH (244 K. The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337 which causing both brachydactyly type 1 (MIM #113000 and Robinow syndrome (MIM #268310, and the immunologically active SYK gene (MIM *600085. The deletion in the father was de novo and FISH analysis of blood lymphocytes did not suggest mosaicism. All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails. All have significant dysarthria and suffer from continuous middle ear and upper respiratory infections. The father also has a funnel chest and unilateral hypoplastic kidney but the daughters have no malformations. Conclusions This is the first report of a familial constitutional 9q22 deletion and the first deletion studied by array-CGH which does not involve the PTCH1 gene. The phenotype and penetrance are variable and the deletion found in the cognitively normal normal father poses a challenge in genetic counseling.

Hot springs in Hokuriku District

Energy Technology Data Exchange (ETDEWEB)

Sato, K. (Hot Springs Research Center, Japan)

1971-01-01

In the Hokuriku district including Toyama, Ishikawa, and Fukui Prefectures, hot springs of more than 25/sup 0/C were investigated. In the Toyama Prefecture, there are 14 hot springs which are located in an area from the Kurobe River to the Tateyama volcano and in the mountainous area in the southwest. In Ishikawa Prefecture there are 16 hot springs scattered in Hakusan and its vicinity, the Kaga mountains, and in the Noto peninsula. In northern Fukui Prefecture there are seven hot springs. The hot springs in Shirakawa in Gifu Prefecture are characterized as acid springs producing exhalations and H/sub 2/S. These are attributed to the Quaternary volcanoes. The hot springs of Wakura, Katayamazu, and Awara in Ishikawa Prefecture are characterized by a high Cl content which is related to Tertiary andesite. The hot springs of Daishoji, Yamanaka, Yamashiro, Kuritsu, Tatsunokuchi, Yuwaku, and Yunotani are characterized by a low HCO/sub 3/ content. The Ca and SO/sub 4/ content decreases from east to west, and the Na and Cl content increases from west to east. These fluctuations are related to the Tertiary tuff and rhyolite. The hot springs of Kuronagi, Kinshu, and Babadani, located along the Kurobe River are characterized by low levels of dissolved components and high CO/sub 2/ and HCO/sub 3/ content. These trends are related to late Paleozoic granite. Hot springs resources are considered to be connected to geothermal resources. Ten tables, graphs, and maps are provided.

The study on stress-strain state of the spring at high temperature using ABAQUS

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H Sun

2014-01-01

Full Text Available Cylindrical helical springs are widely used in the elements of thermal energy devices. It is necessary to guarantee the stability of the stress state of spring in high temperature. Relaxation phenomenon of stress is studied in this paper. Calculations are carried out in the environment of ABAQUS. The verification is taken out using analytical calculations.This paper describes the distribution and character of stress contour lines on the cross section of spring under the condition of instantaneous load, explicates the relaxation law with time. Research object is cylindrical helical spring, that working at high temperature. The purpose of this work is to get the stress relaxation law of spring, and to guarantee the long-term strength.This article presents the basic theory of helical spring. Establishes spring mathematical model of creep under the loads of compression and torsion. The stress formulas of each component in the cross section of spring are given. The calculation process of relaxation is analyzed in the program ABAQUS.In this paper compare the analytical formulas of spring stress with the simulation results, which are created by program ABAQUS.Finite element model for stress creep analysis in the cross section is created, material of spring – stainless steel 10X18N9T, springs are used at the temperature 650℃.At the beginning, stress-stain of spring is in the elastic state. Analyzes the change law of creep stress under the condition of constant load and a fixed compression.When analyzing under the condition of a fixed compression, the stresses are quickly decreased in most area in the cross section of spring, and the point of minimum shear stress gradually moves to the direction of outer diameter, because of this, stresses in a small area near the center increase slowly at first then decrease gradually with time. When analyzing under the condition of constant load, the stresses are quickly decreased in the around area and in creased

Mapping of Powdery Mildew Resistance Gene pmCH89 in a Putative Wheat-Thinopyrum intermedium Introgression Line.

Science.gov (United States)

Hou, Liyuan; Zhang, Xiaojun; Li, Xin; Jia, Juqing; Yang, Huizhen; Zhan, Haixian; Qiao, Linyi; Guo, Huijuan; Chang, Zhijian

2015-07-28

Powdery mildew, caused by Blumeria graminis f. sp. tritici (Bgt), is a globally serious disease adversely affecting wheat production. The Bgt-resistant wheat breeding line CH09W89 was derived after backcrossing a Bgt resistant wheat-Thinopyrum intermedium partial amphiploid TAI7045 with susceptible wheat cultivars. At the seedling stage, CH09W89 exhibited immunity or high resistance to Bgt pathotypes E09, E20, E21, E23, E26, Bg1, and Bg2, similar to its donor line TAI7045 and Th. intermedium. No Th. intermedium chromatin was detected based on genomic in situ hybridization of mitotic chromosomes. To determine the mode of inheritance of the Bgt resistance and the chromosomal location of the resistance gene, CH09W89 was crossed with two susceptible wheat cultivars. The results of the genetic analysis showed that the adult resistance to Bgt E09 in CH09W89 was controlled by a single recessive gene, which was tentatively designated as pmCH89. Two polymorphic SSR markers, Xwmc310 and Xwmc125, were linked to the resistance gene with genetic distances 3.1 and 2.7 cM, respectively. Using the Chinese Spring aneuploid and deletion lines, the resistance gene and its linked markers were assigned to chromosome arm 4BL in the bin 0.68-0.78. Due to its unique position on chromosome 4BL, pmCH89 appears to be a new locus for resistance to powdery mildew. These results will be of benefit for improving powdery mildew resistance in wheat breeding programs.

Mitochondrial DNA deletion mutations in adult mouse cardiac side population cells

International Nuclear Information System (INIS)

Lushaj, Entela B.; Lozonschi, Lucian; Barnes, Maria; Anstadt, Emily; Kohmoto, Takushi

2012-01-01

We investigated the presence and potential role of mitochondrial DNA (mtDNA) deletion mutations in adult cardiac stem cells. Cardiac side population (SP) cells were isolated from 12-week-old mice. Standard polymerase chain reaction (PCR) was used to screen for the presence of mtDNA deletion mutations in (a) freshly isolated SP cells and (b) SP cells cultured to passage 10. When present, the abundance of mtDNA deletion mutation was analyzed in single cell colonies. The effect of different levels of deletion mutations on SP cell growth and differentiation was determined. MtDNA deletion mutations were found in both freshly isolated and cultured cells from 12-week-old mice. While there was no significant difference in the number of single cell colonies with mtDNA deletion mutations from any of the groups mentioned above, the abundance of mtDNA deletion mutations was significantly higher in the cultured cells, as determined by quantitative PCR. Within a single clonal cell population, the detectable mtDNA deletion mutations were the same in all cells and unique when compared to deletions of other colonies. We also found that cells harboring high levels of mtDNA deletion mutations (i.e. where deleted mtDNA comprised more than 60% of total mtDNA) had slower proliferation rates and decreased differentiation capacities. Screening cultured adult stem cells for mtDNA deletion mutations as a routine assessment will benefit the biomedical application of adult stem cells.

Contribution of Large Genomic Rearrangements in Italian Lynch Syndrome Patients: Characterization of a Novel Alu-Mediated Deletion

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Francesca Duraturo

2013-01-01

Full Text Available Lynch syndrome is associated with germ-line mutations in the DNA mismatch repair (MMR genes, mainly MLH1 and MSH2. Most of the mutations reported in these genes to date are point mutations, small deletions, and insertions. Large genomic rearrangements in the MMR genes predisposing to Lynch syndrome also occur, but the frequency varies depending on the population studied on average from 5 to 20%. The aim of this study was to examine the contribution of large rearrangements in the MLH1 and MSH2 genes in a well-characterised series of 63 unrelated Southern Italian Lynch syndrome patients who were negative for pathogenic point mutations in the MLH1, MSH2, and MSH6 genes. We identified a large novel deletion in the MSH2 gene, including exon 6 in one of the patients analysed (1.6% frequency. This deletion was confirmed and localised by long-range PCR. The breakpoints of this rearrangement were characterised by sequencing. Further analysis of the breakpoints revealed that this rearrangement was a product of Alu-mediated recombination. Our findings identified a novel Alu-mediated rearrangement within MSH2 gene and showed that large deletions or duplications in MLH1 and MSH2 genes are low-frequency mutational events in Southern Italian patients with an inherited predisposition to colon cancer.

Usefulness of MLPA in the detection of SHOX deletions.

Science.gov (United States)

Funari, Mariana F A; Jorge, Alexander A L; Souza, Silvia C A L; Billerbeck, Ana E C; Arnhold, Ivo J P; Mendonca, Berenice B; Nishi, Mirian Y

2010-01-01

SHOX haploinsufficiency causes a wide spectrum of short stature phenotypes, such as Leri-Weill dyschondrosteosis (LWD) and disproportionate short stature (DSS). SHOX deletions are responsible for approximately two thirds of isolated haploinsufficiency; therefore, it is important to determine the most appropriate methodology for detection of gene deletion. In this study, three methodologies for the detection of SHOX deletions were compared: the fluorescence in situ hybridization (FISH), microsatellite analysis and multiplex ligation-dependent probe amplification (MLPA). Forty-four patients (8 LWD and 36 DSS) were analyzed. The cosmid LLNOYCO3'M'34F5 was used as a probe for the FISH analysis and microsatellite analysis were performed using three intragenic microsatellite markers. MLPA was performed using commercial kits. Twelve patients (8 LWD and 4 DSS) had deletions in SHOX area detected by MLPA and 2 patients generated discordant results with the other methodologies. In the first case, the deletion was not detected by FISH. In the second case, both FISH and microsatellite analyses were unable to identify the intragenic deletion. In conclusion, MLPA was more sensitive, less expensive and less laborious; therefore, it should be used as the initial molecular method for the detection of SHOX gene deletion. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

Spheres of discharge of springs

Science.gov (United States)

Springer, Abraham E.; Stevens, Lawrence E.

2009-02-01

Although springs have been recognized as important, rare, and globally threatened ecosystems, there is as yet no consistent and comprehensive classification system or common lexicon for springs. In this paper, 12 spheres of discharge of springs are defined, sketched, displayed with photographs, and described relative to their hydrogeology of occurrence, and the microhabitats and ecosystems they support. A few of the spheres of discharge have been previously recognized and used by hydrogeologists for over 80 years, but others have only recently been defined geomorphologically. A comparison of these spheres of discharge to classification systems for wetlands, groundwater dependent ecosystems, karst hydrogeology, running waters, and other systems is provided. With a common lexicon for springs, hydrogeologists can provide more consistent guidance for springs ecosystem conservation, management, and restoration. As additional comprehensive inventories of the physical, biological, and cultural characteristics are conducted and analyzed, it will eventually be possible to associate spheres of discharge with discrete vegetation and aquatic invertebrate assemblages, and better understand the habitat requirements of rare or unique springs species. Given the elevated productivity and biodiversity of springs, and their highly threatened status, identification of geomorphic similarities among spring types is essential for conservation of these important ecosystems.

Fracture coatings in Topopah Spring Tuff along drill hole wash

International Nuclear Information System (INIS)

Carlos, B.A.; Chipera, S.J.; Bish, D.L.

1994-01-01

Fracture-lining minerals are being studied as part of site characterization to determine the suitability of Yucca Mountain, Nevada as a potential high level nuclear waste repository. Fracture coatings in the Paintbrush Group provide information on potential flow paths above the water table both toward and away from the potential repository and provide information on the distribution of fracture-lining minerals needed to model thermal effects of waste emplacement. Fracture coatings within the predominantly non-zeolitic Paintbrush Group vary both with depth and laterally across Yucca Mountain, whereas fracture coatings in tuffs below the Paintbrush Group are related to the mineralogy of the tuffs and follow a consistent pattern of distribution with predominantly quartz, calcite, and manganese oxides in the devitrified intervals and mordenite and clinoptilolite in the zeolitic intervals. The zeolites stellerite and heulandite are more abundant in fractures in the Topopah Spring Tuff in drill holes USW G-1 and UE-25 a number-sign l, located along Drill Hole Wash (at the northern end of Yucca Mountain) than in core from other parts of Yucca Mountain. Buesch et al. (2) present evidence for a complex fault system along Drill Hole Wash. To investigate the possibility that the abundant fracture-lining zeolites in USW G-1 and UE-25 a number-sign 1 are related to the Drill Hole Wash fault, the Topopah Spring Tuff was examined in drill cores from USW UZ-14, USW G-1, USW NRG-7/7a, and UE-25 a number-sign l

Coil spring venting arrangement

International Nuclear Information System (INIS)

McCugh, R.M.

1975-01-01

A simple venting device for trapped gas pockets in hydraulic systems is inserted through a small access passages, operated remotely, and removed completely. The device comprises a small diameter, closely wound coil spring which is pushed through a guide temporarily inserted in the access passage. The guide has a central passageway which directs the coil spring radially upward into the pocket, so that, with the guide properly positioned for depth and properly oriented, the coil spring can be pushed up into the top of the pocket to vent it. By positioning a seal around the free end of the guide, the spring and guide are removed and the passage is sealed

Comparative spring mechanics in mantis shrimp.

Science.gov (United States)

Patek, S N; Rosario, M V; Taylor, J R A

2013-04-01

Elastic mechanisms are fundamental to fast and efficient movements. Mantis shrimp power their fast raptorial appendages using a conserved network of exoskeletal springs, linkages and latches. Their appendages are fantastically diverse, ranging from spears to hammers. We measured the spring mechanics of 12 mantis shrimp species from five different families exhibiting hammer-shaped, spear-shaped and undifferentiated appendages. Across species, spring force and work increase with size of the appendage and spring constant is not correlated with size. Species that hammer their prey exhibit significantly greater spring resilience compared with species that impale evasive prey ('spearers'); mixed statistical results show that species that hammer prey also produce greater work relative to size during spring loading compared with spearers. Disabling part of the spring mechanism, the 'saddle', significantly decreases spring force and work in three smasher species; cross-species analyses show a greater effect of cutting the saddle on the spring force and spring constant in species without hammers compared with species with hammers. Overall, the study shows a more potent spring mechanism in the faster and more powerful hammering species compared with spearing species while also highlighting the challenges of reconciling within-species and cross-species mechanical analyses when different processes may be acting at these two different levels of analysis. The observed mechanical variation in spring mechanics provides insights into the evolutionary history, morphological components and mechanical behavior, which were not discernible in prior single-species studies. The results also suggest that, even with a conserved spring mechanism, spring behavior, potency and component structures can be varied within a clade with implications for the behavioral functions of power-amplified devices.

Naturally occurring deletions of hunchback binding sites in the even-skipped stripe 3+7 enhancer.

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Arnar Palsson

Full Text Available Changes in regulatory DNA contribute to phenotypic differences within and between taxa. Comparative studies show that many transcription factor binding sites (TFBS are conserved between species whereas functional studies reveal that some mutations segregating within species alter TFBS function. Consistently, in this analysis of 13 regulatory elements in Drosophila melanogaster populations, single base and insertion/deletion polymorphism are rare in characterized regulatory elements. Experimentally defined TFBS are nearly devoid of segregating mutations and, as has been shown before, are quite conserved. For instance 8 of 11 Hunchback binding sites in the stripe 3+7 enhancer of even-skipped are conserved between D. melanogaster and Drosophila virilis. Oddly, we found a 72 bp deletion that removes one of these binding sites (Hb8, segregating within D. melanogaster. Furthermore, a 45 bp deletion polymorphism in the spacer between the stripe 3+7 and stripe 2 enhancers, removes another predicted Hunchback site. These two deletions are separated by ∼250 bp, sit on distinct haplotypes, and segregate at appreciable frequency. The Hb8Δ is at 5 to 35% frequency in the new world, but also shows cosmopolitan distribution. There is depletion of sequence variation on the Hb8Δ-carrying haplotype. Quantitative genetic tests indicate that Hb8Δ affects developmental time, but not viability of offspring. The Eve expression pattern differs between inbred lines, but the stripe 3 and 7 boundaries seem unaffected by Hb8Δ. The data reveal segregating variation in regulatory elements, which may reflect evolutionary turnover of characterized TFBS due to drift or co-evolution.

Naturally occurring deletions of hunchback binding sites in the even-skipped stripe 3+7 enhancer.

Science.gov (United States)

Palsson, Arnar; Wesolowska, Natalia; Reynisdóttir, Sigrún; Ludwig, Michael Z; Kreitman, Martin

2014-01-01

Changes in regulatory DNA contribute to phenotypic differences within and between taxa. Comparative studies show that many transcription factor binding sites (TFBS) are conserved between species whereas functional studies reveal that some mutations segregating within species alter TFBS function. Consistently, in this analysis of 13 regulatory elements in Drosophila melanogaster populations, single base and insertion/deletion polymorphism are rare in characterized regulatory elements. Experimentally defined TFBS are nearly devoid of segregating mutations and, as has been shown before, are quite conserved. For instance 8 of 11 Hunchback binding sites in the stripe 3+7 enhancer of even-skipped are conserved between D. melanogaster and Drosophila virilis. Oddly, we found a 72 bp deletion that removes one of these binding sites (Hb8), segregating within D. melanogaster. Furthermore, a 45 bp deletion polymorphism in the spacer between the stripe 3+7 and stripe 2 enhancers, removes another predicted Hunchback site. These two deletions are separated by ∼250 bp, sit on distinct haplotypes, and segregate at appreciable frequency. The Hb8Δ is at 5 to 35% frequency in the new world, but also shows cosmopolitan distribution. There is depletion of sequence variation on the Hb8Δ-carrying haplotype. Quantitative genetic tests indicate that Hb8Δ affects developmental time, but not viability of offspring. The Eve expression pattern differs between inbred lines, but the stripe 3 and 7 boundaries seem unaffected by Hb8Δ. The data reveal segregating variation in regulatory elements, which may reflect evolutionary turnover of characterized TFBS due to drift or co-evolution.

Ku80-deleted cells are defective at base excision repair

International Nuclear Information System (INIS)

Li, Han; Marple, Teresa; Hasty, Paul

2013-01-01

Graphical abstract: - Highlights: • Ku80-deleted cells are hypersensitive to ROS and alkylating agents. • Cells deleted for Ku80, but not Ku70 or Lig4, have reduced BER capacity. • OGG1 rescues hypersensitivity to H 2 O 2 and paraquat in Ku80-mutant cells. • Cells deleted for Ku80, but not Lig4, are defective at repairing AP sites. • Cells deleted for Ku80, but not Lig4 or Brca2 exon 27, exhibit increased PAR. - Abstract: Ku80 forms a heterodimer with Ku70, called Ku, that repairs DNA double-strand breaks (DSBs) via the nonhomologous end joining (NHEJ) pathway. As a consequence of deleting NHEJ, Ku80-mutant cells are hypersensitive to agents that cause DNA DSBs like ionizing radiation. Here we show that Ku80 deletion also decreased resistance to ROS and alkylating agents that typically cause base lesions and single-strand breaks (SSBs). This is unusual since base excision repair (BER), not NHEJ, typically repairs these types of lesions. However, we show that deletion of another NHEJ protein, DNA ligase IV (Lig4), did not cause hypersensitivity to these agents. In addition, the ROS and alkylating agents did not induce γ-H2AX foci that are diagnostic of DSBs. Furthermore, deletion of Ku80, but not Lig4 or Ku70, reduced BER capacity. Ku80 deletion also impaired BER at the initial lesion recognition/strand scission step; thus, involvement of a DSB is unlikely. Therefore, our data suggests that Ku80 deletion impairs BER via a mechanism that does not repair DSBs

Ku80-deleted cells are defective at base excision repair

Energy Technology Data Exchange (ETDEWEB)

Li, Han [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Tumor Suppression Group, Spanish National Cancer Research Centre (CNIO), Madrid 28029 (Spain); Marple, Teresa [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Hasty, Paul, E-mail: hastye@uthscsa.edu [The University of Texas Health Science Center at San Antonio, The Institute of Biotechnology, The Department of Molecular Medicine, 15355 Lambda Drive, San Antonio, TX 78245-3207 (United States); Tumor Suppression Group, Spanish National Cancer Research Centre (CNIO), Madrid 28029 (Spain)

2013-05-15

Graphical abstract: - Highlights: • Ku80-deleted cells are hypersensitive to ROS and alkylating agents. • Cells deleted for Ku80, but not Ku70 or Lig4, have reduced BER capacity. • OGG1 rescues hypersensitivity to H{sub 2}O{sub 2} and paraquat in Ku80-mutant cells. • Cells deleted for Ku80, but not Lig4, are defective at repairing AP sites. • Cells deleted for Ku80, but not Lig4 or Brca2 exon 27, exhibit increased PAR. - Abstract: Ku80 forms a heterodimer with Ku70, called Ku, that repairs DNA double-strand breaks (DSBs) via the nonhomologous end joining (NHEJ) pathway. As a consequence of deleting NHEJ, Ku80-mutant cells are hypersensitive to agents that cause DNA DSBs like ionizing radiation. Here we show that Ku80 deletion also decreased resistance to ROS and alkylating agents that typically cause base lesions and single-strand breaks (SSBs). This is unusual since base excision repair (BER), not NHEJ, typically repairs these types of lesions. However, we show that deletion of another NHEJ protein, DNA ligase IV (Lig4), did not cause hypersensitivity to these agents. In addition, the ROS and alkylating agents did not induce γ-H2AX foci that are diagnostic of DSBs. Furthermore, deletion of Ku80, but not Lig4 or Ku70, reduced BER capacity. Ku80 deletion also impaired BER at the initial lesion recognition/strand scission step; thus, involvement of a DSB is unlikely. Therefore, our data suggests that Ku80 deletion impairs BER via a mechanism that does not repair DSBs.

4977-bp mitochondrial DNA deletion in infertile patients with varicocele.

Science.gov (United States)

Gashti, N G; Salehi, Z; Madani, A H; Dalivandan, S T

2014-04-01

Varicocele is the abnormal inflexion and distension of veins of the pampiniform plexus within spermatic cord and is one of the amendable causes of male infertility. It can increase reactive oxygen species (ROS) production in semen and cause oxidative stress. The purpose of this study was to analyse spermatozoa mtDNA 4977-bp deletion in infertile men with varicocele. To detect 4977-bp deletion in spermatozoa mtDNA, semen samples of 60 infertile patients with clinical varicocele and 90 normal men from northern Iran were prepared. After extraction of spermatozoa total DNA, Gap polymerase chain reaction (Gap PCR) was performed. 4977-bp deletion was observed in 81.66% of patients with varicocele, while approximately 15.55% of controls had this deletion. As spermatozoa from patients with varicocele had a high frequency of occurrence of 4977-bp deletion in mtDNA [OR = 24.18, 95% confidence interval (CI) = 10.15-57.57, P deletion in spermatozoa and cause infertility in north Iranian men. However, to determine the relation between sperm mtDNA 4977-bp deletion and varicocele-induced infertility, larger population-based studies are needed. It is concluded that there is an association between sperm mtDNA 4977-bp deletion and varicocele-induced infertility in the population studied. © 2013 Blackwell Verlag GmbH.

Microarray-based ultra-high resolution discovery of genomic deletion mutations

Science.gov (United States)

2014-01-01

Background Oligonucleotide microarray-based comparative genomic hybridization (CGH) offers an attractive possible route for the rapid and cost-effective genome-wide discovery of deletion mutations. CGH typically involves comparison of the hybridization intensities of genomic DNA samples with microarray chip representations of entire genomes, and has widespread potential application in experimental research and medical diagnostics. However, the power to detect small deletions is low. Results Here we use a graduated series of Arabidopsis thaliana genomic deletion mutations (of sizes ranging from 4 bp to ~5 kb) to optimize CGH-based genomic deletion detection. We show that the power to detect smaller deletions (4, 28 and 104 bp) depends upon oligonucleotide density (essentially the number of genome-representative oligonucleotides on the microarray chip), and determine the oligonucleotide spacings necessary to guarantee detection of deletions of specified size. Conclusions Our findings will enhance a wide range of research and clinical applications, and in particular will aid in the discovery of genomic deletions in the absence of a priori knowledge of their existence. PMID:24655320

Mockito for Spring

CERN Document Server

Acharya, Sujoy

2015-01-01

If you are an application developer with some experience in software testing and want to learn more about testing frameworks, then this technology and book is for you. Mockito for Spring will be perfect as your next step towards becoming a competent software tester with Spring and Mockito.

New Approaches for Responsible Management of Offshore Springs in Semi-arid Regions

Science.gov (United States)

Shaban, Amin; de Jong, Carmen; Al-Sulaimani, Zaher

2017-04-01

In arid and semi-arid regions, such as the Mediterranean and Gulf Region where water is scarce water demand has been exacerbated and become a major environmental challenge. Presently there is massive pressure to develop new water sources to alleviate existing water stress. In the quest for more freshwater even groundwater discharge into the sea in the form of "off-shore freshwater springs" (or submarine groundwater discharge) has been contemplated as a potential source of unconventional water in coastal zones. Offshore-springs are derived from aquifers with complex geological controls mainly in the form of faults and karst conduits. Representing a border-line discipline, they have been poorly studied with only few submarine groundwater monitoring sites existing worldwide. Recently, innovative techniques have been developed enabling springs to be detected via remote sensing such as airborne surveys or satellite images. "Thermal Anomalies" can be clearly identified as evidence for groundwater discharge into the marine environment. A diversity of groundwater routes along which off-shore springs are fed from land sources can be recognized and near-shore and offshore springs differentiated and classified according to their geometry. This is well pronounced along the coast of Lebanon and offshore of Oman. Offshore springs play an important role in the marine ecosystem as natural sources of mercury, metals, nutrients, dissolved carbon species and in cooling or warming ocean water. However, they are extremely sensitive to variations in qualitative and quantitative water inputs triggered by climate change and anthropogenic impacts especially in their recharge zones. Pollutants such as sewage, detergents, heavy metals or herbicides that negatively affect water quality of offshore springs can transit the groundwater rapidly. Recently these springs have also been severely affected by uncontrolled water abstraction from land aquifers. In Bahrain, overpumping combined with

41 CFR 51-2.3 - Notice of proposed addition or deletion.

Science.gov (United States)

2010-07-01

... addition or deletion. 51-2.3 Section 51-2.3 Public Contracts and Property Management Other Provisions... or deletion. At least 30 days prior to the Committee's consideration of the addition or deletion of a... Register announcing the proposed addition or deletion and providing interested persons an opportunity to...

Optimal in-feed amino acid ratio for broiler breeder hens based on deletion studies.

Science.gov (United States)

Dorigam, J C P; Sakomura, N K; Sarcinelli, M F; Gonçalves, C A; de Lima, M B; Peruzzi, N J

2017-12-01

An ideal amino acid ratio (IAAR) for breeder hens is needed for maximum nitrogen retention (NR) taking into account nitrogen deposition in body (ND B ), feathers (ND F ) and egg mass (NEM) to improve dietary protein efficiency. Thus, the aim of this study was to apply the deletion method to derive the IAAR for broiler breeder hens. The nitrogen balance trials were performed from 31 to 35 weeks and from 46 to 50 weeks. Twelve treatments with eight replicates and one hen per cage were used. A balanced diet (BD) was formulated to meet the requirement of all nutrients. The other diets were formulated diluting 55% of BD with corn starch and refilled with amino acids (AAs) and other ingredients, except the AA tested. Each trial lasted 25 days. Feather losses, egg production and egg weight were recorded daily, and the samples were stored to further determine NEM and nitrogen in feather losses (ND FL ). At the start and the end of each period, a group of birds were slaughtered to further determine ND B and ND F . The NR was calculated as the sum of ND B , ND F , ND FL , NEM and the nitrogen maintenance requirement (NMR). The deletion of valine greatly depressed the NR in peak production (31 to 35 weeks) while the deletion of the isoleucine greatly depressed the NR of the hens from 46 to 50 weeks of age. The percentual reduction in NR and the per cent of the AA to delete from the BD were used to calculate the AA requirement. The average IAAR was Lys 100, Met+Cys 86, Trp 23, Thr 80, Arg 113, Val 90, Ile 91, Leu 133, Phe+Tyr 108, Gly+Ser 94 and His 35. The IAAR was in line with the recommendation from the literature, validating deletion method with the advantages from a rapid and low-cost procedure. Journal of Animal Physiology and Animal Nutrition © 2016 Blackwell Verlag GmbH.

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.

Science.gov (United States)

Gigante, Laura; Paganini, Irene; Frontali, Marina; Ciabattoni, Serena; Sangiuolo, Federica Carla; Papi, Laura

2016-01-01

Rhabdoid tumors are aggressive malignancies that show loss-of-function mutations of SMARCB1 gene, a member of the SWI/SNF chromatin-remodeling complex controlling gene transcription. One-third of patients affected by rhabdoid tumor harbor a germ-line mutation of SMARCB1 defining a rhabdoid tumor predisposition syndrome. The occurrence of a second somatic mutation determines the development of neoplasia in a two-hit model. Most germ-line mutations occur de novo, and few cases of recurrence in a sibship have been described. Here we report on a new Italian family with recurrence of SMARCB1 germ-line deletion in two siblings due to gonadal mosaicism. The deletion was identified in the 9-month-old proband with malignant rhabdoid tumor of the right kidney and disseminated metastases. Testing of both parents confirmed the de novo origin of the mutation, but recurrence was then detected prenatally in a new pregnancy. This is the sixth family with malignant rhabdoid tumor predisposition syndrome with the recurrence of the same germ-line SMARCB1 mutation in the sibship but not in healthy parents, suggesting that gonadal mosaicism is a less rare event than supposed. The clinical outcome in our patient confirms previous data of poorer outcome in patients with rhabdoid tumor predisposition syndrome.

Characterization of the hydrogeology of the sacred Gihon Spring, Jerusalem: a deteriorating urban karst spring

Science.gov (United States)

Amiel, Ronit Benami; Grodek, Tamir; Frumkin, Amos

2010-09-01

The Gihon Spring, Jerusalem, is important for the major monotheistic religions. Its hydrogeology and hydrochemistry is studied here in order to understand urbanization effects on karst groundwater resources, and promote better water management. High-resolution monitoring of the spring discharge, temperature and electrical conductivity, was performed, together with chemical and bacterial analysis. All these demonstrate a rapid response of the spring to rainfall events and human impact. A complex karst system is inferred, including conduit flow, fissure flow and diffuse flow. Electrical conductivity, Na+ and K+ values (2.0 mS/cm, 130 and 50 mg/l respectively) are very high compared to other nearby springs located at the town margins (0.6 mS/cm, 15 and <1 mg/l respectively), indicating considerable urban pollution in the Gihon area. The previously cited pulsating nature of the spring was not detected during the present high-resolution monitoring. This phenomenon may have ceased due to additional water sources from urban leakage and irrigation feeding the spring. The urbanization of the recharge catchment thus affects the spring water dramatically, both chemically and hydrologically. Appropriate measures should therefore be undertaken to protect the Gihon Spring and other karst aquifers threatened by rapid urbanization.

Integrated Field Analyses of Thermal Springs

Science.gov (United States)

Shervais, K.; Young, B.; Ponce-Zepeda, M. M.; Rosove, S.

2011-12-01

A group of undergraduate researchers through the SURE internship offered by the Southern California Earthquake Center (SCEC) have examined thermal springs in southern Idaho, northern Utah as well as mud volcanoes in the Salton Sea, California. We used an integrated approach to estimate the setting and maximum temperature, including water chemistry, Ipad-based image and data-base management, microbiology, and gas analyses with a modified Giggenbach sampler.All springs were characterized using GISRoam (tmCogent3D). We are performing geothermometry calculations as well as comparisons with temperature gradient data on the results while also analyzing biological samples. Analyses include water temperature, pH, electrical conductivity, and TDS measured in the field. Each sample is sealed and chilled and delivered to a water lab within 12 hours.Temperatures are continuously monitored with the use of Solinst Levelogger Juniors. Through partnership with a local community college geology club, we receive results on a monthly basis and are able to process initial data earlier in order to evaluate data over a longer time span. The springs and mudpots contained microbial organisms which were analyzed using methods of single colony isolation, polymerase chain reaction, and DNA sequencing showing the impact of the organisms on the springs or vice versa. Soon we we will collect gas samples at sites that show signs of gas. This will be taken using a hybrid of the Giggenbach method and our own methods. Drawing gas samples has proven a challenge, however we devised a method to draw out gas samples utilizing the Giggenbach flask, transferring samples to glass blood sample tubes, replacing NaOH in the Giggenbach flask, and evacuating it in the field for multiple samples using a vacuum pump. We also use a floating platform devised to carry and lower a levelogger, to using an in-line fuel filter from a tractor in order to keep mud from contaminating the equipment.The use of raster

Genetics Home Reference: 17q12 deletion syndrome

Science.gov (United States)

... with 17q12 deletion syndrome have delayed development (particularly speech and language delays), intellectual disability, or behavioral or psychiatric disorders. Behavioral and psychiatric conditions that have been reported in people with 17q12 deletion syndrome include autism ...

Structural and Functional Consequences of Chaperone Site Deletion in αA-Crystallin

Science.gov (United States)

Santhoshkumar, Puttur; Karmakar, Srabani; Sharma, Krishna K.

2016-01-01

The chaperone-like activity of αA-crystallin has an important role in maintaining lens transparency. Previously we identified residues 70–88 as a chaperone site in αA-crystallin. In this study, we deleted the chaperone site residues to generate αAΔ70–76 and αAΔ70–88 mutants and investigated if there are additional substrate-binding sites in αA-crystallin. Both mutant proteins when expressed in E. coli formed inclusion bodies, and on solubilizing and refolding, they exhibited similar structural properties, with a 2- to 3-fold increase in molar mass compared to the molar mass of wild-type protein. The deletion mutants were less stable than the wild-type αA-crystallin. Functionally αAΔ70–88 was completely inactive as a chaperone, while αAΔ70–76 demonstrated a 40–50% reduction in anti-aggregation activity against alcohol dehydrogenase (ADH). Deletion of residues 70–88 abolished the ADH binding sites in αA-crystallin at physiological temperature. At 45 °C, cryptic ADH binding site(s) became exposed, which contributed subtly to the chaperone-like activity of αAΔ70–88. Both of the deletion mutants were completely inactive in suppressing aggregation of βL-crystallin at 53 °C. The mutants completely lost the anti-apoptotic property that αA-crystallin exhibits while they protected ARPE-19 (a human retinal pigment epithelial cell line) and primary human lens epithelial (HLE) cells from oxidative stress. Our studies demonstrate that residues 70–88 in αA-crystallin act as a primary substrate binding site and account for the bulk of the total chaperone activity. The β3 and β4 strands in αA-crystallin comprising 70–88 residues play an important role in maintenance of the structure and in preventing aggregation of denaturing proteins. PMID:27524665

47 CFR 76.1601 - Deletion or repositioning of broadcast signals.

Science.gov (United States)

2010-10-01

... 47 Telecommunication 4 2010-10-01 2010-10-01 false Deletion or repositioning of broadcast signals... RADIO SERVICES MULTICHANNEL VIDEO AND CABLE TELEVISION SERVICE Notices § 76.1601 Deletion or... to § 76.1601: No deletion or repositioning of a local commercial television station shall occur...

Executive summary: Weldon Spring Site Environmental Report for calendar year 1992. Weldon Spring Site Remedial Action Project, Weldon Spring, Missouri

Energy Technology Data Exchange (ETDEWEB)

1993-06-01

This report has been prepared to provide information about the public safety and environmental protection programs conducted by the Weldon Spring Site Remedial Action Project. The Weldon Spring site is located in southern St. Charles County, Missouri, approximately 48 km (30 mi) west of St. Louis. The site consists of two main areas, the Weldon Spring Chemical Plant and raffinate pits and the Weldon Spring Quarry. The objectives of the Site Environmental Report are to present a summary of data from the environmental monitoring program, to characterize trends and environmental conditions at the site, and to confirm compliance with environmental and health protection standards and requirements. The report also presents the status of remedial activities and the results of monitoring these activities to assess their impacts on the public and environment. The scope of the environmental monitoring program at the Weldon Spring site has changed since it was initiated. Previously, the program focused on investigations of the extent and level of contaminants in the groundwater, surface waters, buildings, and air at the site. In 1992, the level of remedial activities required monitoring for potential impacts of those activities, particularly on surface water runoff and airborne effluents. This report includes monitoring data from routine radiological and nonradiological sampling activities. These data include estimates of dose to the public from the Weldon Spring site; estimates of effluent releases; and trends in groundwater contaminant levels. Also, applicable compliance requirements, quality assurance programs, and special studies conducted in 1992 to support environmental protection programs are reviewed.

Attenuation of monkeypox virus by deletion of genomic regions

Science.gov (United States)

Lopera, Juan G.; Falendysz, Elizabeth A.; Rocke, Tonie E.; Osorio, Jorge E.

2015-01-01

Monkeypox virus (MPXV) is an emerging pathogen from Africa that causes disease similar to smallpox. Two clades with different geographic distributions and virulence have been described. Here, we utilized bioinformatic tools to identify genomic regions in MPXV containing multiple virulence genes and explored their roles in pathogenicity; two selected regions were then deleted singularly or in combination. In vitro and in vivostudies indicated that these regions play a significant role in MPXV replication, tissue spread, and mortality in mice. Interestingly, while deletion of either region led to decreased virulence in mice, one region had no effect on in vitro replication. Deletion of both regions simultaneously also reduced cell culture replication and significantly increased the attenuation in vivo over either single deletion. Attenuated MPXV with genomic deletions present a safe and efficacious tool in the study of MPX pathogenesis and in the identification of genetic factors associated with virulence.

Amino-acid composition after loop deletion drives domain swapping.

Science.gov (United States)

Nandwani, Neha; Surana, Parag; Udgaonkar, Jayant B; Das, Ranabir; Gosavi, Shachi

2017-10-01

Rational engineering of a protein to enable domain swapping requires an understanding of the sequence, structural and energetic factors that favor the domain-swapped oligomer over the monomer. While it is known that the deletion of loops between β-strands can promote domain swapping, the spliced sequence at the position of the loop deletion is thought to have a minimal role to play in such domain swapping. Here, two loop-deletion mutants of the non-domain-swapping protein monellin, frame-shifted by a single residue, were designed. Although the spliced sequence in the two mutants differed by only one residue at the site of the deletion, only one of them (YEIKG) promoted domain swapping. The mutant containing the spliced sequence YENKG was entirely monomeric. This new understanding that the domain swapping propensity after loop deletion may depend critically on the chemical composition of the shortened loop will facilitate the rational design of domain swapping. © 2017 The Protein Society.

The Yeast Deletion Collection: A Decade of Functional Genomics

Science.gov (United States)

Giaever, Guri; Nislow, Corey

2014-01-01

The yeast deletion collections comprise >21,000 mutant strains that carry precise start-to-stop deletions of ∼6000 open reading frames. This collection includes heterozygous and homozygous diploids, and haploids of both MATa and MATα mating types. The yeast deletion collection, or yeast knockout (YKO) set, represents the first and only complete, systematically constructed deletion collection available for any organism. Conceived during the Saccharomyces cerevisiae sequencing project, work on the project began in 1998 and was completed in 2002. The YKO strains have been used in numerous laboratories in >1000 genome-wide screens. This landmark genome project has inspired development of numerous genome-wide technologies in organisms from yeast to man. Notable spinoff technologies include synthetic genetic array and HIPHOP chemogenomics. In this retrospective, we briefly describe the yeast deletion project and some of its most noteworthy biological contributions and the impact that these collections have had on the yeast research community and on genomics in general. PMID:24939991

Recent trend of administration on hot springs

Energy Technology Data Exchange (ETDEWEB)

Okubo, Shigeru [Environment Agency, Tokyo (Japan)

1989-01-01

The Environmental Agency exercises jurisdiction over Hot Spring Act, and plans to protect the source of the hot spring and to utilize it appropriately. From the aspect of utilization, hot springs are widely used as a means to remedy chronic diseases and tourist spots besides places for recuperation and repose. Statistics on Japanese hot springs showed that the number of hot spring spots and utilized-fountainhead increased in 1987, compared with the number in 1986. Considering the utilized-headspring, the number of naturally well-out springs has stabilized for 10 years while power-operated springs have increased. This is because the demand of hot springs has grown as the number of users has increased. Another reason is to keep the amount of hot water by setting up the power facility as the welled-out amount has decreased. Major point of recent administration on the hot spring is to permit excavation and utilization of hot springs. Designation of National hot spring health resorts started in 1954 in order to ensure the effective and original use of hot springs and to promote the public use of them, for the purpose of arranging the sound circumstances of hot springs. By 1988, 76 places were designated. 4 figs., 3 tabs.

Panchromatic cooperative hyperspectral adaptive wide band deletion repair method

Science.gov (United States)

Jiang, Bitao; Shi, Chunyu

2018-02-01

In the hyperspectral data, the phenomenon of stripe deletion often occurs, which seriously affects the efficiency and accuracy of data analysis and application. Narrow band deletion can be directly repaired by interpolation, and this method is not ideal for wide band deletion repair. In this paper, an adaptive spectral wide band missing restoration method based on panchromatic information is proposed, and the effectiveness of the algorithm is verified by experiments.

HOXA genes cluster: clinical implications of the smallest deletion

OpenAIRE

Pezzani, Lidia; Milani, Donatella; Manzoni, Francesca; Baccarin, Marco; Silipigni, Rosamaria; Guerneri, Silvana; Esposito, Susanna

2015-01-01

Background HOXA genes cluster plays a fundamental role in embryologic development. Deletion of the entire cluster is known to cause a clinically recognizable syndrome with mild developmental delay, characteristic facies, small feet with unusually short and big halluces, abnormal thumbs, and urogenital malformations. The clinical manifestations may vary with different ranges of deletions of HOXA cluster and flanking regions. Case presentation We report a girl with the smallest deletion reporte...

Role of DNA deletion length in mutation and cell survival

International Nuclear Information System (INIS)

Braby, L.A.; Morgan, T.L.

1992-01-01

A model is presented which is based on the assumption that malignant transformation, mutation, chromosome aberration, and reproductive death of cells are all manifestations of radiation induced deletions in the DNA of the cell, and that the size of the deletion in relation to the spacing of essential genes determines the consequences of that deletion. It is assumed that two independent types of potentially lethal lesions can result in DNA deletions, and that the relative numbers of these types of damage is dependent on radiation quality. The repair of the damage reduces the length of a deletion, but does not always eliminate it. The predictions of this model are in good agreement with a wide variety of experimental evidence. (author)

32 CFR 310.34 - Amendment and deletion of system notices.

Science.gov (United States)

2010-07-01

... 32 National Defense 2 2010-07-01 2010-07-01 false Amendment and deletion of system notices. 310.34... (CONTINUED) PRIVACY PROGRAM DOD PRIVACY PROGRAM Publication Requirements § 310.34 Amendment and deletion of... system. (see § 310.32(q)). (c) Deletion of system notices. (1) Whenever a system is discontinued...

Spring security 3.x cookbook

CERN Document Server

Mankale, Anjana

2013-01-01

This book follows a cookbook style exploring various security solutions provided by Spring Security for various vulnerabilities and threat scenarios that web applications may be exposed to at the authentication and session level layers.This book is for all Spring-based application developers as well as Java web developers who wish to implement robust security mechanisms into web application development using Spring Security.Readers are assumed to have a working knowledge of Java web application development, a basic understanding of the Spring framework, and some knowledge of the fundamentals o

Mosaic deletion of 20pter due to rescue by somatic recombination.

Science.gov (United States)

Martin, Megan M; Vanzo, Rena J; Sdano, Mallory R; Baxter, Adrianne L; South, Sarah T

2016-01-01

We report on a unique case of a mosaic 20pter-p13 deletion due to a somatic repair event identified by allele differentiating single nucleotide polymorphism (SNP) probes on chromosomal microarray. Small terminal deletions of 20p have been reported in a few individuals and appear to result in a variable phenotype. This patient was a 24-month-old female who presented with failure to thrive and speech delay. Chromosomal microarray analysis (CMA) performed on peripheral blood showed a 1.6 Mb deletion involving the terminus of 20p (20pter-20p13). This deletion appeared mosaic by CMA and this suspicion was confirmed by fluorescence in situ hybridization (FISH) analysis. Additionally, the deletion interval at 20p was directly adjacent to 15 Mb of mosaic copy-neutral loss of heterozygosity (LOH). The pattern of SNP probes was highly suggestive of a somatic repair event that resulted in rescue of the deleted region using the non-deleted homologue as a template. Structural mosaicism is rare and most often believed to be due to a postzygotic mechanism. This case demonstrates the additional utility of allele patterns to help distinguish mechanisms and in this case identified the possibility of either a post-zygotic repair of a germline deletion or a post-zygotic deletion with somatic recombination repair in a single step. © 2015 Wiley Periodicals, Inc.

Geochemical and hydrologic data for wells and springs in thermal-spring areas of the Appalachians

Energy Technology Data Exchange (ETDEWEB)

Hobba, W.A. Jr.; Chemerys, J.C.; Fisher, D.W.; Pearson, F.J. Jr.

1976-07-01

Current interest in geothermal potential of thermal-spring areas in the Appalachians makes all data on thermal springs and wells in these areas valuable. Presented here without interpretive comment are maps showing selected springs and wells and tables of physical and chemical data pertaining to these wells and springs. The chemical tables show compositions of gases (oxygen, nitrogen, argon, methane, carbon dioxide, and helium), isotope contents (tritium, carbon (13), and oxygen (18)), trace and minor element chemical data, and the usual complete chemical data.

Agronomic performance of new open pollinated experimental lines of broccoli (Brassica oleracea L. var. italica) evaluated under organic farming.

Science.gov (United States)

Sahamishirazi, Samira; Moehring, Jens; Zikeli, Sabine; Fleck, Michael; Claupein, Wilhelm; Graeff-Hoenninger, Simone

2018-01-01

In order to develop new open pollinating cultivars of broccoli for organic farming, two experiments were conducted during fall 2015 and spring 2016. This study was aimed at comparing the agronomic performance of eleven new open pollinating breeding lines of broccoli to introduce new lines and to test their seasonal suitability for organic farming. Field experiments were carried out at the organic research station Kleinhohenheim of the University of Hohenheim (Stuttgart-Germany). Different agronomic traits total biomass fresh weight, head fresh weight, head diameter, hollow-stem, fresh weight harvest index and marketable yield were assessed together with commercial control cultivars. The data from both experiments were analyzed using a two-stage mixed model approach. In our study, genotype, growing season and their interaction had significant effects on most traits. Plants belonging to the fall growing season had bigger sizes in comparison to spring with significantly (pbroccoli heads. The low average minimum temperatures during the spring growing season lead to low biomass fresh weight but high fresh weight harvest index. Testing the seasonal suitability of all open pollinating lines showed that the considered fall season was better for broccoli production. However, the change in yield between the fall and the spring growing season was not significant for "Line 701" and "CHE-MIC". Considering the expression of different agronomic traits, "CHE-GRE-G", "Calinaro" and "CAN-SPB" performed the best in the fall growing season, and "CHE-GRE-G", "CHE-GRE-A", "CHE-BAL-A" and "CHE-MIC" and "Line 701" were best in the spring growing season, specifically due to the highest marketable yield and proportion of marketable heads.

75 FR 49481 - Procurement List; Additions and Deletion

Science.gov (United States)

2010-08-13

... added to the Procurement List: Services Service Type/Locations: Laundry Service, Atlanta VA Medical...: Additions to and deletion from the Procurement List. SUMMARY: This action adds services to the Procurement... disabilities and deletes a service from the Procurement List previously furnished by such agency. DATES...

Phosphatase and tensin homologue deleted on chromosome 10 ...

African Journals Online (AJOL)

Phosphatase and tensin homologue deleted on chromosome 10 (PTEN) is a tumor suppressor gene deleted or mutated in many human cancers such as glioblastoma, spinal tumors, prostate, bladder, adrenals, thyroid, breast, endometrium, and colon cancers. They result from loss of heterozygosity (LOH) for the PTEN ...

[Dynamics of diazotrophic bacteria number in the root zone of wheat Vrn lines isogenic by genes].

Science.gov (United States)

Samoĭlov, A M; Zhmurko, V V

2012-01-01

The number of diazotrophic bacteria and nitrogenase activity in the root zone of isogenic monogene-dominant Vrn lines were measured in the field experiments throughout their vegetation from tillering to heading. The total number of diazotrophic bacteria and nitrogenase activity in the root zone of these lines during this period were increased irrespective of their genotypes. The above indices of the winter cultivar (Vrn loci bottom recessive) were lower than those of the spring lines--Vrn-A1, Vrn-B1 and Vrn-D1. Plants of Vrn-B1 line have the lowest indices among the spring lines with the exception of some indices. This line plants flowered later than those of Vrn-A1 and Vrn-D1 lines. We hypothesized the differences between plants of these lines as to nitrogen fixation activity and the number of diazotrophic bacteria are mediately determined by Vrn loci through their effects on metabolism intensity and assimilate reflux in the form of root exudates, therefore the total number of diazotrophic bacteria and nitrogenase activity increases.

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.

Science.gov (United States)

Sadikovic, Bekim; Wang, Jing; El-Hattab, Ayman W; Landsverk, Megan; Douglas, Ganka; Brundage, Ellen K; Craigen, William J; Schmitt, Eric S; Wong, Lee-Jun C

2010-12-20

Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA deletions can lead to a broad spectrum of clinical features with different age of onset, ranging from mild mitochondrial myopathies (MM), progressive external ophthalmoplegia (PEO), and Kearns-Sayre syndrome (KSS), to severe Pearson syndrome. The aim of this study is to investigate the molecular signatures surrounding the deletion breakpoints and their association with the clinical phenotype and age at onset. MtDNA deletions in 67 patients were characterized using array comparative genomic hybridization (aCGH) followed by PCR-sequencing of the deletion junctions. Sequence homology including both perfect and imperfect short repeats flanking the deletion regions were analyzed and correlated with clinical features and patients' age group. In all age groups, there was a significant increase in sequence homology flanking the deletion compared to mtDNA background. The youngest patient group (deletion distribution in size and locations, with a significantly lower sequence homology flanking the deletion, and the highest percentage of deletion mutant heteroplasmy. The older age groups showed rather discrete pattern of deletions with 44% of all patients over 6 years old carrying the most common 5 kb mtDNA deletion, which was found mostly in muscle specimens (22/41). Only 15% (3/20) of the young patients (deletion, which is usually present in blood rather than muscle. This group of patients predominantly (16 out of 17) exhibit multisystem disorder and/or Pearson syndrome, while older patients had predominantly neuromuscular manifestations including KSS, PEO, and MM. In conclusion, sequence homology at the deletion flanking regions is a consistent feature of mtDNA deletions. Decreased levels of sequence homology and increased levels of deletion mutant heteroplasmy appear to correlate with earlier onset and more severe disease with multisystem involvement.

Applying spatial analysis techniques to assess the suitability of multipurpose uses of spring water in the Jiaosi Hot Spring Region, Taiwan

Science.gov (United States)

Jang, Cheng-Shin

2016-04-01

The Jiaosi Hot Spring Region is located in northeastern Taiwan and is rich in geothermal springs. The geothermal development of the Jiaosi Hot Spring Region dates back to the 18th century and currently, the spring water is processed for various uses, including irrigation, aquaculture, swimming, bathing, foot spas, and recreational tourism. Because of the proximity of the Jiaosi Hot Spring Region to the metropolitan area of Taipei City, the hot spring resources in this region attract millions of tourists annually. Recently, the Taiwan government is paying more attention to surveying the spring water temperatures in the Jiaosi Hot Spring Region because of the severe spring water overexploitation, causing a significant decline in spring water temperatures. Furthermore, the temperature of spring water is a reliable indicator for exploring the occurrence and evolution of springs and strongly affects hydrochemical reactions, components, and magnitudes. The multipurpose uses of spring water can be dictated by the temperature of the water. Therefore, accurately estimating the temperature distribution of the spring water is critical in the Jiaosi Hot Spring Region to facilitate the sustainable development and management of the multipurpose uses of the hot spring resources. To evaluate the suitability of spring water for these various uses, this study spatially characterized the spring water temperatures of the Jiaosi Hot Spring Region by using ordinary kriging (OK), sequential Gaussian simulation (SGS), and geographical information system (GIS). First, variogram analyses were used to determine the spatial variability of spring water temperatures. Next, OK and SGS were adopted to model the spatial distributions and uncertainty of the spring water temperatures. Finally, the land use (i.e., agriculture, dwelling, public land, and recreation) was determined and combined with the estimated distributions of the spring water temperatures using GIS. A suitable development strategy

Spring Recipes A Problem-solution Approach

CERN Document Server

Long, Josh; Mak, Gary

2010-01-01

With over 3 Million users/developers, Spring Framework is the leading "out of the box" Java framework. Spring addresses and offers simple solutions for most aspects of your Java/Java EE application development, and guides you to use industry best practices to design and implement your applications. The release of Spring Framework 3 has ushered in many improvements and new features. Spring Recipes: A Problem-Solution Approach, Second Edition continues upon the bestselling success of the previous edition but focuses on the latest Spring 3 features for building enterprise Java applications.

Mapping of Powdery Mildew Resistance Gene pmCH89 in a Putative Wheat-Thinopyrum intermedium Introgression Line

Directory of Open Access Journals (Sweden)

Liyuan Hou

2015-07-01

Full Text Available Powdery mildew, caused by Blumeria graminis f. sp. tritici (Bgt, is a globally serious disease adversely affecting wheat production. The Bgt-resistant wheat breeding line CH09W89 was derived after backcrossing a Bgt resistant wheat-Thinopyrum intermedium partial amphiploid TAI7045 with susceptible wheat cultivars. At the seedling stage, CH09W89 exhibited immunity or high resistance to Bgt pathotypes E09, E20, E21, E23, E26, Bg1, and Bg2, similar to its donor line TAI7045 and Th. intermedium. No Th. intermedium chromatin was detected based on genomic in situ hybridization of mitotic chromosomes. To determine the mode of inheritance of the Bgt resistance and the chromosomal location of the resistance gene, CH09W89 was crossed with two susceptible wheat cultivars. The results of the genetic analysis showed that the adult resistance to Bgt E09 in CH09W89 was controlled by a single recessive gene, which was tentatively designated as pmCH89. Two polymorphic SSR markers, Xwmc310 and Xwmc125, were linked to the resistance gene with genetic distances 3.1 and 2.7 cM, respectively. Using the Chinese Spring aneuploid and deletion lines, the resistance gene and its linked markers were assigned to chromosome arm 4BL in the bin 0.68–0.78. Due to its unique position on chromosome 4BL, pmCH89 appears to be a new locus for resistance to powdery mildew. These results will be of benefit for improving powdery mildew resistance in wheat breeding programs.

76 FR 78248 - Procurement List; Addition and Deletions

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2011-12-16

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78 FR 21916 - Procurement List; Addition And Deletions

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2013-08-30

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42 CFR 401.118 - Deletion of identifying details.

Science.gov (United States)

2010-10-01

... 42 Public Health 2 2010-10-01 2010-10-01 false Deletion of identifying details. 401.118 Section 401.118 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN... Deletion of identifying details. When CMS publishes or otherwise makes available an opinion or order...

Quarry geotechnical report for the Weldon Spring Site Remedial Action Project, Weldon Spring, Missouri

International Nuclear Information System (INIS)

1990-11-01

This report has been prepared for the United States Department of Energy's (DOE) Weldon Spring Site Remedial Action Project (WSSRAP) by the Project Management Contractor (PMC), which is MK-Ferguson Company (MK-Ferguson) with Jacobs Engineering Group (JEG) as its designated subcontractor. The Weldon Spring site (WSS) comprises the Weldon Spring quarry area and the Weldon Spring chemical plant and raffinate pit areas. This report presents the results of geotechnical investigations conducted during 1989--1990 at the proposed Weldon Spring quarry staging and water treatment facilities in the quarry area. The facilities are intended for treatment of water removed from the quarry area. An access road and a decontamination pad will be necessary for handling and transportation of bulk waste. Results of previous geotechnical investigations performed by other geoscience and environmental engineering firms in the quarry area, were reviewed, summarized and incorporated into this report. Well logging, stratigraphy data, piezometer data, elevations, and soil characteristics are also included

19 CFR 176.22 - Deletion of protest or entry number.

Science.gov (United States)

2010-04-01

... 19 Customs Duties 2 2010-04-01 2010-04-01 false Deletion of protest or entry number. 176.22... Facts § 176.22 Deletion of protest or entry number. If any protest number or entry number is to be... authorized official making and approving the deletion. [T.D. 70-181, 35 FR 13433, Aug. 22, 1970] ...

Spring/dimple instrument tube restraint

International Nuclear Information System (INIS)

DeMario, E.E.; Lawson, C.N.

1993-01-01

A nuclear fuel assembly for a pressurized water nuclear reactor has a spring and dimple structure formed in a non-radioactive insert tube placed in the top of a sensor receiving instrumentation tube thimble disposed in the fuel assembly and attached at a top nozzle, a bottom nozzle, and intermediate grids. The instrumentation tube thimble is open at the top, where the sensor or its connection extends through the cooling water for coupling to a sensor signal processor. The spring and dimple insert tube is mounted within the instrumentation tube thimble and extends downwardly adjacent the top. The springs and dimples restrain the sensor and its connections against lateral displacement causing impact with the instrumentation tube thimble due to the strong axial flow of cooling water. The instrumentation tube has a stainless steel outer sleeve and a zirconium alloy inner sleeve below the insert tube adjacent the top. The insert tube is relatively non-radioactivated inconel alloy. The opposed springs and dimples are formed on diametrically opposite inner walls of the insert tube, the springs being formed as spaced axial cuts in the insert tube, with a web of the insert tube between the cuts bowed radially inwardly for forming the spring, and the dimples being formed as radially inward protrusions opposed to the springs. 7 figures

Production and molecular characterization of bread wheat lines with reduced amount of α-type gliadins.

Science.gov (United States)

Camerlengo, Francesco; Sestili, Francesco; Silvestri, Marco; Colaprico, Giuseppe; Margiotta, Benedetta; Ruggeri, Roberto; Lupi, Roberta; Masci, Stefania; Lafiandra, Domenico

2017-12-19

Among wheat gluten proteins, the α-type gliadins are the major responsible for celiac disease, an autoimmune disorder that affects about 1% of the world population. In fact, these proteins contain several toxic and immunogenic epitopes that trigger the onset of the disease. The α-type gliadins are a multigene family, encoded by genes located at the complex Gli-2 loci. Here, three bread wheat deletion lines (Gli-A2, Gli-D2 and Gli-A2/Gli-D2) at the Gli-2 loci were generated by the introgression in the bread wheat cultivar Pegaso of natural mutations, detected in different bread wheat cultivars. The molecular characterization of these lines allowed the isolation of 49 unique expressed genes coding α-type gliadins, that were assigned to each of the three Gli-2 loci. The number and the amount of α-type gliadin transcripts were drastically reduced in the deletion lines. In particular, the line Gli-A2/Gli-D2 contained only 12 active α-type gliadin genes (-75.6% respect to the cv. Pegaso) and a minor level of transcripts (-80% compared to cv. Pegaso). Compensatory pleiotropic effects were observed in the two other classes of gliadins (ω- and γ-gliadins) either at gene expression or protein levels. Although the comparative analysis of the deduced amino acid sequences highlighted the typical structural features of α-type gliadin proteins, substantial differences were displayed among the 49 proteins for the presence of toxic and immunogenic epitopes. The deletion line Gli-A2/Gli-D2 did not contain the 33-mer peptide, one of the major epitopes triggering the celiac disease, representing an interesting material to develop less "toxic" wheat varieties.

NPL deletion policy for RCRA-regulated TSD facilities finalized

International Nuclear Information System (INIS)

Anon.

1995-01-01

Under a new policy published by EPA on March 20, 1995, certain sites may be deleted from the National Priorities List (NPL) and deferred to RCRA corrective action. To be deleted from the NPL, a site must (1) be regulated under RCRA as a treatment, storage, or disposal (TSD) facility and (2) meet the four criteria specified by EPA. The new NPL deletion policy, which does not pertain to federal TSD facilities, became effective on April 19, 1995. 1 tab

[History of hot spring bath treatment in China].

Science.gov (United States)

Hao, Wanpeng; Wang, Xiaojun; Xiang, Yinghong; Gu Li, A Man; Li, Ming; Zhang, Xin

2011-07-01

As early as the 7th century B.C. (Western Zhou Dynasty), there is a recording as 'spring which contains sulfur could treat disease' on the Wentang Stele written by WANG Bao. Wenquan Fu written by ZHANG Heng in the Easten Han Dynasty also mentioned hot spring bath treatment. The distribution of hot springs in China has been summarized by LI Daoyuan in the Northern Wei Dynasty in his Shuijingzhu which recorded hot springs in 41 places and interpreted the definition of hot spring. Bencao Shiyi (by CHEN Cangqi, Tang Dynasty) discussed the formation of and indications for hot springs. HU Zai in the Song Dynasty pointed out distinguishing hot springs according to water quality in his book Yuyin Conghua. TANG Shenwei in the Song Dynasty noted in Jingshi Zhenglei Beiji Bencao that hot spring bath treatment should be combined with diet. Shiwu Bencao (Ming Dynasty) classified hot springs into sulfur springs, arsenicum springs, cinnabar springs, aluminite springs, etc. and pointed out their individual indications. Geologists did not start the work on distribution and water quality analysis of hot springs until the first half of the 20th century. There are 972 hot springs in Wenquan Jiyao (written by geologist ZHANG Hongzhao and published in 1956). In July 1982, the First National Geothermal Conference was held and it reported that there were more than 2600 hot springs in China. Since the second half of the 20th century, hot spring sanatoriums and rehabilitation centers have been established, which promoted the development of hot spring bath treatment.

Beam line optics technologies series (7). Orthopedic treatment of sharp of light (reflecting mirror)

International Nuclear Information System (INIS)

Uruga, Tomoya; Nomura, Masaharu

2006-01-01

A reflecting mirror (mirror) is the most popular light device for orthopedic treatment of the shape of light. The paper explains the kinds of mirror for hard X-ray field and its applications in order to think the objects of mirror and how to adjust it when user experiment on the beam-line. The basic knowledge of reflection of X-ray, a use of mirror, the kinds of condenser mirror, the influence factors on the condenser size, arrangement of mirror in the hard X-ray beam-line, what kinds of mirror are necessary, evaluation of performance of mirror and adjustment, and troubles and measures are described. Layout in optics hutch at BL01B1 at SPring-8, refraction and total reflection of X-rays at surface, reflectivity of Rh and Pt with ideal surface as a function of photon energy, effects of surface roughness on reflectivity of Rh, calculated beam sizes for typical SPring-8 mirror as a function of magnification, schematic drawing of mirror, standard mirror system for vertical deflection in bending magnet beam-line, and observed and calculated reflectivity of Rh double mirror at BL01B1 at SPring-8 are illustrated. (S.Y)

Effect of clinical use of nickel-titanium springs.

Science.gov (United States)

Magno, Amanda Fahning; Monini, André da Costa; Capela, Marisa Veiga; Martins, Lídia Parsekian; Martins, Renato Parsekian

2015-07-01

Our objectives were to determine whether there are changes on the load deflection rate (L/DP) and the average force (FP) of the superelastic pseudoplateau, and whether permanent deformation is changed in nickel-titanium closed-coil springs (CCSs) after 6 months of clinical use. Twenty-two nickel-titanium CCSs (Sentalloy 100 g; Dentsply GAC, York, Pa) were subjected to tensile mechanical testing at 37°C on activations varying from 3.2 to 16.0 mm before and after 6 months of clinical use. A regression line was fitted over the most horizontal area of the unloading part of the stress-strain graph of every CCS, and its slope was used as L/DP. The FP was determined by the midpoint of the longest segment of the curve that could be fit within the regression line with a R(2) of at least 0.999, and permanent deformation was determined graphically by obtaining the strain value when the measured stress reached zero. The data were analyzed by 3 analyses of variance at 2 levels, with 5% of significance. Time and activation significantly influenced the variables tested (P < 0.001). Time increased the L/DP and permanent deformation but decreased the FP. Activation decreased L/DP, FP, and permanent deformation. Significant interactions between time and activation were detected for FP (P = 0.013) and deformation (P < 0.001). After 6 months of active clinical use, the analyzed springs had a significant but small increase in their L/DP; FP dropped up to 88%, and the CCSs deformed up to 1.26 mm. Copyright © 2015 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

The rates and patterns of deletions in the human factor IX gene

Energy Technology Data Exchange (ETDEWEB)

Ketterling, R.P.; Vielhaber, E.L.; Lind, T.J.; Thorland, E.C.; Sommer S.S. (Mayo Clinic/Foundation, Rochester, MN (United States))

1994-02-01

Deletions are commonly observed in genes with either segments of highly homologous sequences or excessive gene length. However, in the factor IX gene and in most genes, deletions (of [ge]21 bp) are uncommon. The authors have analyzed DNA from 290 families with hemophilia B (203 independent mutations) and have found 12 deletions >20 bp. Eleven of these are >2 kb (range >3-163 kb), and one is 1.1 kb. The junctions of the four deletions that are completely contained within the factor IX gene have been determined. A novel mutation occurred in patient HB128: the data suggest that a 26.8-kb deletion occurred between two segments of alternating purines and pyrimidines and that a 2.3-kb sense strand segment derived from the deleted region was inserted. For a sample of 203 independent mutations, the authors estimate the [open quotes]baseline[close quotes] rates of deletional mutation per base pair per generation as a function of size. The rate for large (>2 kb)I deletions is exceedingly low. For every mutational event in which a given base is at the junction of a large deletion, there are an estimated 58 microdeletions (<20 bp) and 985 single-base substitutions at that base. Analysis of the nine reported deletion junctions in the factor IX gene literature reveals that (i) five are associated with inversion, orphan sequences, or sense strand insertions; (ii) four are simple deletions that display an excess of short direct repeats at their junctions; (iii) there is no dramatic clustering of junctions within the gene; and (iv) with the exception of alternating purines and pyrimidines, deletion junctions are not preferentially associated with repetitive DNA. 58 refs., 5 figs., 5 tabs.

The DrosDel Deletion Collection: A Drosophila Genomewide Chromosomal Deficiency Resource

OpenAIRE

Ryder, Edward; Ashburner, Michael; Bautista-Llacer, Rosa; Drummond, Jenny; Webster, Jane; Johnson, Glynnis; Morley, Terri; Chan, Yuk Sang; Blows, Fiona; Coulson, Darin; Reuter, Gunter; Baisch, Heiko; Apelt, Christian; Kauk, Andreas; Rudolph, Thomas

2007-01-01

We describe a second-generation deficiency kit for Drosophila melanogaster composed of molecularly mapped deletions on an isogenic background, covering ∼77% of the Release 5.1 genome. Using a previously reported collection of FRT-bearing P-element insertions, we have generated 655 new deletions and verified a set of 209 deletion-bearing fly stocks. In addition to deletions, we demonstrate how the P elements may also be used to generate a set of custom inversions and duplications, particularly...

Sorting genomes by reciprocal translocations, insertions, and deletions.

Science.gov (United States)

Qi, Xingqin; Li, Guojun; Li, Shuguang; Xu, Ying

2010-01-01

The problem of sorting by reciprocal translocations (abbreviated as SBT) arises from the field of comparative genomics, which is to find a shortest sequence of reciprocal translocations that transforms one genome Pi into another genome Gamma, with the restriction that Pi and Gamma contain the same genes. SBT has been proved to be polynomial-time solvable, and several polynomial algorithms have been developed. In this paper, we show how to extend Bergeron's SBT algorithm to include insertions and deletions, allowing to compare genomes containing different genes. In particular, if the gene set of Pi is a subset (or superset, respectively) of the gene set of Gamma, we present an approximation algorithm for transforming Pi into Gamma by reciprocal translocations and deletions (insertions, respectively), providing a sorting sequence with length at most OPT + 2, where OPT is the minimum number of translocations and deletions (insertions, respectively) needed to transform Pi into Gamma; if Pi and Gamma have different genes but not containing each other, we give a heuristic to transform Pi into Gamma by a shortest sequence of reciprocal translocations, insertions, and deletions, with bounds for the length of the sorting sequence it outputs. At a conceptual level, there is some similarity between our algorithm and the algorithm developed by El Mabrouk which is used to sort two chromosomes with different gene contents by reversals, insertions, and deletions.

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

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Kristen Dilzell

2015-01-01

Full Text Available This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

An analysis model of the secondary tunnel lining considering ground-primary support-secondary lining interaction

Energy Technology Data Exchange (ETDEWEB)

Seo, Seong-Ho; Chang, Seok-Bue [Yooshin Engineering Corporation, Seoul(Korea); Lee, Sang-Duk [Ajou University, Suwon(Korea)

2002-06-30

It is the common practice to over design the reinforcement for the secondary tunnel lining due to the lack of rational insight into the ground loosening loads, and due to the conservative application of the empirical design methods. The main loads of the secondary lining are the ground loosening loads and the ground water pressure, and the ground load is critical in the reinforcement design of the secondary lining in the case of drained tunnel. If the external load is absent around a tunnel. the reasons of the load for secondary tunnel lining are the deterioration of the primary supports such as shotcrete, steel rib, and rock bolts. Accordingly, the analysis method considering the ground-primary supports-secondary lining interaction should be required for the rational design of the secondary tunnel lining. In this paper, the interaction was conceptually described by the simple mass-spring model and the load transfer from the ground and primary supports to the secondary lining is showed by the ground-primary supports-secondary lining reaction curves for the theoretical solution of a circular tunnel, And also, the application of this proposed model to numerical analysis is verified in order to check the potential for the tunnel with the complex analysis conditions. (author). 8 refs., 2 tabs., 7 figs.

Genomic deletion of a long-range bone enhancer misregulatessclerostin in Van Buchem disease

Energy Technology Data Exchange (ETDEWEB)

Loots, Gabriela G.; Kneissel, Michaela; Keller, Hansjoerg; Baptist, Myma; Chang, Jessie; Collette, Nicole M.; Ovcharenko, Dmitriy; Plajzer-Frick, Ingrid; Rubin, Edward M.

2005-04-15

Mutations in distant regulatory elements can negatively impact human development and health, yet due to the difficulty of detecting these critical sequences we predominantly focus on coding sequences for diagnostic purposes. We have undertaken a comparative sequence-based approach to characterize a large noncoding region deleted in patients affected by Van Buchem disease (VB), a severe sclerosing bone dysplasia. Using BAC recombination and transgenesis we characterized the expression of human sclerostin (sost) from normal (hSOSTwt) or Van Buchem(hSOSTvb D) alleles. Only the hSOSTwt allele faithfully expressed high levels of human sost in the adult bone and impacted bone metabolism, consistent with the model that the VB noncoding deletion removes a sost specific regulatory element. By exploiting cross-species sequence comparisons with in vitro and in vivo enhancer assays we were able to identify a candidate enhancer element that drives human sost expression in osteoblast-like cell lines in vitro and in the skeletal anlage of the E14.5 mouse embryo, and discovered a novel function for sclerostin during limb development. Our approach represents a framework for characterizing distant regulatory elements associated with abnormal human phenotypes.

Nuclear reactor spring strip grid spacer

International Nuclear Information System (INIS)

Patterson, J.F.; Flora, B.S.

1978-01-01

A bimetallic grid spacer is described comprising a grid structure of zircaloy formed by intersecting striplike members which define fuel element openings for receiving fuel elements and spring strips made of Inconel positioned within the grid structure for cooperating with the fuel elements to maintain them in their desired position. A plurality of these spring strips extend longitudinally between sides of the grid structure, being locked in position by the grid retaining strips. The fuel rods, which are disposed in the fuel openings formed in the grid structure, are positioned by means of the springs associated with the spring strips and a plurality of dimples which extend from the zircaloy grid structure into the openings. In one embodiment the strips are disposed in a plurality of arrays with those spring strip arrays situated in opposing diagonal quadrants of the grid structure extending in the same direction and adjacent spring strip arrays in each half of the spacer extending in relatively perpendicular directions. Other variations of the spring strip arrangements for a particular fuel design are disclosed herein

DNA-based detection of chromosome deletion and amplification: diagnostic and mechanistic significance

International Nuclear Information System (INIS)

Latt, S.A.; Lalande, M.; Donlon, T.

1986-01-01

This paper describes a few of the many possible examples in which application of a molecular cytogenetic approach can ultimately lead to a new, important understanding about the statics and dynamics of human chromosome structure. In the case of retinoblastoma, cytological observations of deletions and linkage analysis have positioned the retinoblastoma locus to bank 13q14. This locus is grossly deleted in some spontaneous tumors. It is still necessary to locate more precisely and characterize the nature of the retinoblastoma locus, as well as the basis for the heterogeneity in deletions removing one copy of this locus. One is left with the possibility that those deletions that may be observed cytologically reflect but the tip of the iceberg of deletions; detection of others may require molecular probes. A related question is the nature of the DNA sequences at the deletion boundaries and the role they play in promoting these deletions

Delayed chromosomal instability caused by large deletion

International Nuclear Information System (INIS)

Ojima, M.; Suzuki, K.; Kodama, S.; Watanabe, M.

2003-01-01

Full text: There is accumulating evidence that genomic instability, manifested by the expression of delayed phenotypes, is induced by X-irradiation but not by ultraviolet (UV) light. It is well known that ionizing radiation, such as X-rays, induces DNA double strand breaks, but UV-light mainly causes base damage like pyrimidine dimers and (6-4) photoproducts. Although the mechanism of radiation-induced genomic instability has not been thoroughly explained, it is suggested that DNA double strand breaks contribute the induction of genomic instability. We examined here whether X-ray induced gene deletion at the hprt locus induces delayed instability in chromosome X. SV40-immortalized normal human fibroblasts, GM638, were irradiated with X-rays (3, 6 Gy), and the hprt mutants were isolated in the presence of 6-thioguanine (6-TG). A 2-fold and a 60-fold increase in mutation frequency were found by 3 Gy and 6 Gy irradiation, respectively. The molecular structure of the hprt mutations was determined by multiplex polymerase chain reaction of nine exons. Approximately 60% of 3 Gy mutants lost a part or the entire hprt gene, and the other mutants showed point mutations like spontaneous mutants. All 6 Gy mutants show total gene deletion. The chromosomes of the hprt mutants were analyzed by Whole Human Chromosome X Paint FISH or Xq telomere FISH. None of the point or partial gene deletion mutants showed aberrations of X-chromosome, however total gene deletion mutants induced translocations and dicentrics involving chromosome X. These results suggest that large deletion caused by DNA double strand breaks destabilizes chromosome structure, which may be involved in an induction of radiation-induced genomic instability

Performance of quantum cloning and deleting machines over coherence

Science.gov (United States)

Karmakar, Sumana; Sen, Ajoy; Sarkar, Debasis

2017-10-01

Coherence, being at the heart of interference phenomena, is found to be an useful resource in quantum information theory. Here we want to understand quantum coherence under the combination of two fundamentally dual processes, viz., cloning and deleting. We found the role of quantum cloning and deletion machines with the consumption and generation of quantum coherence. We establish cloning as a cohering process and deletion as a decohering process. Fidelity of the process will be shown to have connection with coherence generation and consumption of the processes.

Winter sowing of adapted lines as a potential yield increase strategy in lentil (Lens culinaris Medik.)

Energy Technology Data Exchange (ETDEWEB)

Barrios, A.; Aparicio, T.; Rodríguez, M.J.; Pérez de la Vega, M.; Caminero, C.

2016-11-01

Lentil (Lens culinaris Medik. subsp. culinaris) is a traditional crop in Spain although current grain yield in Spain is relatively low and unstable. The effect of an early sowing date (winter sowing) on yield in the Spanish Central Plateau (meseta) was analyzed comparing it to the traditional spring sowing. Yield from eleven cultivars currently available for sowing in Spain and two F6:7 populations of recombinant inbred lines (RIL), ´Precoz´ × ´WA8649041´ (89 lines) and ´BGE016365´ × ´ILL1918´ (118 lines), was evaluated in winter and spring sowing dates for three seasons (2005/06, 2006/07 and 2007/08) and two localities. Yield and stability were assessed by the method of consistency of performance with some modifications. When comparing with the best currently available cultivars sown in the traditional spring sowing date, (with an estimated average yield of 43.9 g/m in our experimental conditions), winter sowing using adapted breeding lines proved to be a suitable strategy for increasing lentil yield and yield stability in the Spanish meseta, with an average yield increase of 111% (reaching an estimated yield of 92.8 g/m). Results point to that lentil production can greatly increase in the Spanish meseta if adequate plant materials, such as some of the lines analyzed, are sown at late fall. (Author)

Winter sowing of adapted lines as a potential yield increase strategy in lentil (Lens culinaris Medik.

Directory of Open Access Journals (Sweden)

Abel Barrios

2016-06-01

Full Text Available Lentil (Lens culinaris Medik. subsp. culinaris is a traditional crop in Spain although current grain yield in Spain is relatively low and unstable. The effect of an early sowing date (winter sowing on yield in the Spanish Central Plateau (meseta was analyzed comparing it to the traditional spring sowing. Yield from eleven cultivars currently available for sowing in Spain and two F6:7  populations of recombinant inbred lines (RIL, ´Precoz´ × ´WA8649041´ (89 lines and ´BGE016365´ × ´ILL1918´ (118 lines, was evaluated in winter and spring sowing dates for three seasons (2005/06, 2006/07 and 2007/08 and two localities. Yield and stability were assessed by the method of consistency of performance with some modifications. When comparing with the best currently available cultivars sown in the traditional spring sowing date, (with an estimated average yield of 43.9 g/m in our experimental conditions, winter sowing using adapted breeding lines proved to be a suitable strategy for increasing lentil yield and yield stability in the Spanish meseta, with an average yield increase of 111% (reaching an estimated yield of 92.8 g/m. Results point to that lentil production can greatly increase in the Spanish meseta if adequate plant materials, such as some of the lines analyzed, are sown at late fall.

Familial deletion 18p syndrome: case report

Directory of Open Access Journals (Sweden)

Lemyre Emmanuelle

2006-07-01

Full Text Available Abstract Background Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases. Case presentation The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18(p11.2. Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p are fertile and seem to have a normal miscarriage rate. Conclusion Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported.

Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients

Directory of Open Access Journals (Sweden)

Aziza Sbiti

2002-01-01

Full Text Available Duchenne and Becker muscular dystrophy (DMD and BMD are X-linked diseases resulting from a defect in the dystrophin gene located on Xp21. DMD is the most frequent neuromuscular disease in humans (1/3500 male newborn. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. We have analyzed DNA from 72 Moroccan patients with DMD/BMD using the multiplex polymerase chain reaction (PCR to screen for exon deletions within the dystrophin gene, and to estimate the frequency of these abnormalities. We found dystrophin gene deletions in 37 cases. Therefore the frequency in Moroccan DMD/BMD patients is about 51.3%. All deletions were clustered in the two known hot-spots regions, and in 81% of cases deletions were detected in the region from exon 43 to exon 52. These findings are comparable to those reported in other studies. It is important to note that in our population, we can first search for deletions of DMD gene in the most frequently deleted exons determined by this study. This may facilitate the molecular diagnosis of DMD and BMD in our country.

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Science.gov (United States)

Dad, Shzeena; Rendtorff, Nanna D; Kann, Erik; Albrechtsen, Anders; Mehrjouy, Mana M; Bak, Mads; Tommerup, Niels; Tranebjærg, Lisbeth; Rosenberg, Thomas; Jensen, Hanne; Møller, Lisbeth B

2015-12-01

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in some cases vestibular dysfunction. Usher syndrome is divided into three subtypes, USH1, USH2 and USH3. Twelve loci and eleven genes have so far been identified. Duplications and deletions in PCDH15 and USH2A that lead to USH1 and USH2, respectively, have previously been identified in patients from United Kingdom, Spain and Italy. In this study, we investigate the proportion of exon deletions and duplications in PCDH15 and USH2A in 20 USH1 and 30 USH2 patients from Denmark using multiplex ligation-dependent probe amplification (MLPA). Two heterozygous deletions were identified in USH2A, but no deletions or duplications were identified in PCDH15. Next-generation mate-pair sequencing was used to identify the exact breakpoints of the two deletions identified in USH2A. Our results suggest that USH2 is caused by USH2A exon deletions in a small fraction of the patients, whereas deletions or duplications in PCDH15 might be rare in Danish Usher patients.

Dysfunctional p53 deletion mutants in cell lines derived from Hodgkin's lymphoma

DEFF Research Database (Denmark)

Feuerborn, Alexander; Moritz, Constanze; von Bonin, Frederike

2006-01-01

Classical Hodgkin's lymphoma (cHL) is a distinct malignancy of the immune system. Despite the progress made in the understanding of the pathology of cHL, the transforming events remain to be elucidated. It has been proposed that mutations in the TP53 gene in biopsy material as well as cell lines ...

36 CFR 902.14 - Deletion of nondiscloseable information from requested records.

Science.gov (United States)

2010-07-01

... 36 Parks, Forests, and Public Property 3 2010-07-01 2010-07-01 false Deletion of nondiscloseable... AVENUE DEVELOPMENT CORPORATION FREEDOM OF INFORMATION ACT General Administration § 902.14 Deletion of... segregable after deletion of the nondiscloseable portions, will be released. If the information in the...

46 CFR 67.513 - Application for evidence of deletion from documentation.

Science.gov (United States)

2010-10-01

... 46 Shipping 2 2010-10-01 2010-10-01 false Application for evidence of deletion from documentation... AND MEASUREMENT OF VESSELS DOCUMENTATION OF VESSELS Fees § 67.513 Application for evidence of deletion from documentation. An application fee is charged for evidence of deletion from documentation in...

Conditional Deletion of Pten Causes Bronchiolar Hyperplasia

OpenAIRE

Davé, Vrushank; Wert, Susan E.; Tanner, Tiffany; Thitoff, Angela R.; Loudy, Dave E.; Whitsett, Jeffrey A.

2007-01-01

Tumor suppressor phosphatase and tensin homolog deleted on chromosome 10 (PTEN) is a lipid phosphatase that regulates multiple cellular processes including cell polarity, migration, proliferation, and carcinogenesis. In this work, we demonstrate that conditional deletion of Pten (PtenΔ/Δ) in the respiratory epithelial cells of the developing mouse lung caused epithelial cell proliferation and hyperplasia as early as 4 to 6 weeks of age. While bronchiolar cell differentiation was normal, as in...

34 CFR 5.16 - Deletion of identifying details.

Science.gov (United States)

2010-07-01

... 34 Education 1 2010-07-01 2010-07-01 false Deletion of identifying details. 5.16 Section 5.16 Education Office of the Secretary, Department of Education AVAILABILITY OF INFORMATION TO THE PUBLIC PURSUANT TO PUB. L. 90-23 (Eff. until 7-14-10) What Records Are Available § 5.16 Deletion of identifying...

75 FR 39241 - Hooper Springs Project

Science.gov (United States)

2010-07-08

... DEPARTMENT OF ENERGY Bonneville Power Administration Hooper Springs Project AGENCY: Bonneville... (collectively referred to as the Hooper Springs Project). The new BPA substation would be called Hooper Springs... proposed project would address voltage stability and reliability concerns of two of BPA's full requirements...

Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions

Directory of Open Access Journals (Sweden)

I.J.P. Arnhold

1998-04-01

Full Text Available Genomic DNA from 23 patients with isolated growth hormone (GH deficiency (12 males and 11 females: heights -4.9 ± 1.4 SDS was screened for GH gene deletions by restriction endonuclease analysis of polymerase chain reaction amplification products. Three unrelated patients had typical features of severe GH deficiency and deletions (6.7 kb in two and 7.6 kb in one of the GH gene. The two patients with 6.7-kb deletions developed growth-attenuating anti-GH antibodies whereas the patient with the 7.6-kb deletion continued to grow with GH replacement therapy. Our finding that 3/23 (~13% Brazilian subjects had GH gene deletions agrees with previous studies of severe isolated GH deficiency subjects in other populations. Two of three subjects (67% with deletions developed blocking antibodies despite administration of exogenous GH at low doses. Interestingly, only 1/10 of cases with affected relatives or parental consanguinity had GH-1 gene deletions

Deletion of Pr130 Interrupts Cardiac Development in Zebrafish

Directory of Open Access Journals (Sweden)

Jie Yang

2016-11-01

Full Text Available Protein phosphatase 2 regulatory subunit B, alpha (PPP2R3A, a regulatory subunit of protein phosphatase 2A (PP2A, is a major serine/threonine phosphatase that regulates crucial function in development and growth. Previous research has implied that PPP2R3A was involved in heart failure, and PR130, the largest transcription of PPP2R3A, functioning in the calcium release of sarcoplasmic reticulum (SR, plays an important role in the excitation-contraction (EC coupling. To obtain a better understanding of PR130 functions in myocardium and cardiac development, two pr130-deletion zebrafish lines were generated using clustered regularly interspaced short palindromic repeats (CRISPR/CRISPR-associated proteins (Cas system. Pr130-knockout zebrafish exhibited cardiac looping defects and decreased cardiac function (decreased fractional area and fractional shortening. Hematoxylin and eosin (H&E staining demonstrated reduced cardiomyocytes. Subsequent transmission electron microscopy revealed that the bright and dark bands were narrowed and blurred, the Z- and M-lines were fogged, and the gaps between longitudinal myocardial fibers were increased. Additionally, increased apoptosis was observed in cardiomyocyte in pr130-knockout zebrafish compared to wild-type (WT. Taken together, our results suggest that pr130 is required for normal myocardium formation and efficient cardiac contractile function.

UCP2 and 3 deletion screening and distribution in 15 pig breeds.

Science.gov (United States)

Li, Yanhua; Li, Hanjie; Zhao, Xingbo; Li, Ning; Wu, Changxin

2007-02-01

The uncoupling protein family is a mitochondrial anion carrier family. It plays an important role in the biological traits of animal body weight, basal metabolic rate and energy conversion. Using PCR and PCR-SSCP, we scanned the porcine uncoupling protein 2 gene (UCP2) and uncoupling protein 3 gene (UCP3) and found seven deletion sites, three in UCP2 and four in UCP3. The deletions in 15 pig breeds showed that deletion influenced weight. The genotype compounding of seven deletion sites in 15 pig breeds had significant effects on performance traits of the pig, such as body weight. We predicted the potential protein factor binding sites using the transcription factor analysis tool TFSearch version 1.3 online. Two deletions (1830 nt and 3219 nt) in UCP3 were found to change the transcriptional factor sites. The 16 bp deletion in 1830 nt added a SP1 site and a 6 bp deletion in 3219 nt removed two MZF1 sites. Seven deletion polymorphisms were covered in introns of linkage genes of UCP2 and UCP3, showing that UCPs have conservation and genetic reliability.

Molecular studies of deletions at the human steroid sulfatase locus

International Nuclear Information System (INIS)

Shapiro, L.J.; Yen, P.; Pomerantz, D.; Martin, E.; Rolewic, L.; Mohandas, T.

1989-01-01

The human steroid sulfatase gene (STS) is located on the distal X chromosome short arm close to the pseudoautosomal region but in a segment of DNA that is unique to the X chromosome. In contrast to most X chromosome-encoded genes, STS expression is not extinguished during the process of X chromosome inactivation. Deficiency of STS activity produced the syndrome of X chromosome-linked ichthyosis, which is one of the most common inborn errors of metabolism in man. Approximately 90% of STS - individuals have large deletions at the STS locus. The authors and others have found that the end points of such deletions are heterogeneous in their location. One recently ascertained subject was observed to have a 40-kilobase deletion that is entirely intragenic, permitting the cloning and sequencing of the deletion junction. Studies of this patient and of other X chromosome sequences in other subjects permit some insight into the mechanism(s) responsible for generating frequent deletions on the short arm of the X chromosome

Clival encephalocele and 5q15 deletion: a case report.

Science.gov (United States)

Puvabanditsin, Surasak; Malik, Imran; Garrow, Eugene; Francois, Lissa; Mehta, Rajeev

2015-03-01

A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion. © The Author(s) 2014.

Male gametophytic sterility. 1 - Gametic sterilities and deletions in petunia

Energy Technology Data Exchange (ETDEWEB)

Cornu, A.; Maizonnier, D. (Station d' Amelioration des Plantes de l' I.N.R.A., Dijon (France))

1982-01-01

Terminal deletions induced by ionizing radiations in Petunia are not sexually transmitted. Cytogenetic study of plants with a heterozygous deletion and their progenies shows that this lack of transmission is accompanied by a gametic semi-sterility due to the fact that gametes carrying the deleted chromosome are not viable. The interest of such a male sterility with a gametophytic determinism for the study of sporophyte-gametophyte relationships is underlined.

Analysing Infinite-State Systems by Combining Equivalence Reduction and the Sweep-Line Method

DEFF Research Database (Denmark)

Mailund, Thomas

2002-01-01

The sweep-line method is a state space exploration method for on-the-fly verification aimed at systems exhibiting progress. Presence of progress in the system makes it possible to delete certain states during state space generation, which reduces the memory used for storing the states. Unfortunat......The sweep-line method is a state space exploration method for on-the-fly verification aimed at systems exhibiting progress. Presence of progress in the system makes it possible to delete certain states during state space generation, which reduces the memory used for storing the states....... Unfortunately, the same progress that is used to improve memory performance in state space exploration often leads to an infinite state space: The progress in the system is carried over to the states resulting in infinitely many states only distinguished through the progress. A finite state space can...... property essential for the sweep-line method. We evaluate the new method on two case studies, showing significant improvements in performance, and we briefly discuss the new method in the context of Timed Coloured Petri Nets, where the “increasing global time” semantics can be exploited for more efficient...

Species-specific deletion of the viral attachment glycoprotein of avian metapneumovirus.

Science.gov (United States)

Kong, Byung-Whi; Foster, Linda K; Foster, Douglas N

2008-03-01

The avian metapneumovirus (AMPV) genome encodes the fusion (F), small hydrophobic (SH), and attachment glycoprotein (G) as envelope glycoproteins. The F and G proteins mainly function to allow viral entry into host cells during the early steps of the virus life cycle. The highly variable AMPV G protein is a major determinant for distinguishing virus subtypes. Sequence analysis was used to determine if any differences between avian or mammalian cell propagated subtype C AMPV could be detected for the 1.8kb G gene. As a result, the complete 1.8kb G gene was found to be present when AMPV was propagated in our immortal turkey turbinate (TT-1) cell line regardless of passage number. Surprisingly, AMPV propagated for 15 or more passages in mammalian Vero cells revealed an essentially deleted G gene in the viral genome, resulting in no G gene mRNA expression. Although the Vero cell propagated AMPV genome contained a small 122 nucleotide fragment of the G gene, no other mRNA variants were detected from either mammalian or avian propagated AMPV. The G gene truncation might be caused by cellular molecular mechanisms that are species-specific. The lack of viral gene deletions suggests that avian cell propagated AMPV will provide a better alternative host for live recombinant vaccine development based on a reverse genetics system.

Fluorescence in situ hybridization evaluation of chromosome deletion patterns in prostate cancer.

Science.gov (United States)

Huang, S F; Xiao, S; Renshaw, A A; Loughlin, K R; Hudson, T J; Fletcher, J A

1996-11-01

Various nonrandom chromosomal aberrations have been identified in prostate carcinoma. These aberrations include deletions of several chromosome regions, particularly the chromosome 8 short arm. Large-scale numerical aberrations, reflected in aberrant DNA ploidy, are also found in a minority of cases. However, it is unclear whether prostate carcinomas contain aberrations of certain chromosome regions that are deleted frequently in other common types of cancer. In this study, we performed dual-color fluorescence in situ hybridization on intact nuclei from touch preparations of 16 prostate cancers. Chromosome copy number was determined using pericentromeric probes, whereas potential chromosome arm deletions were evaluated using yeast artificial chromosome (YAC) and P1 probes. Two YAC probes targeted chromosome 8 short arm regions known to be deleted frequently in prostate cancer. Other YACs and P1s were for chromosome regions, including 1p22, 3p14, 6q21, 9p21, and 22q12, that are deletion targets in a variety of cancers although not extensively studied in prostate cancer. Hybridization efficiencies and signal intensities were excellent for both repeat sequence (alpha-satellite) and single, copy (YAC and P1) fluorescence in situ hybridization probes. Of 16 prostate cancers, 11 had clonal aberrations of 1 or more of the 13 chromosome regions evaluated, and 10 cases (62.5%) had 8p deletions, including 4 cases with 8p deletion in virtually all cells and aneuploidy in only a subset of those deleted cells. Deletions at 3p14, 6q21, and 22q12 were identified in 2, 1, and 1 case, respectively, and each of those cases had a similarly sized cell population with 8p deletion. These studies confirm 8p deletion in the majority of prostate carcinomas. 8p deletions appear to be early events in prostate tumorigenesis, often antedating aneuploidy. Fluorescence in situ hybridization strategies incorporating pericentromeric and single-copy regional chromosome probes offer a powerful and

[Mitochondrial DNA4568 deletions in guinea-pig associated with presbycusis].

Science.gov (United States)

Wei, Xue-mei; Yang, Yuan; Liang, Chuang-yu; Zheng, Zhong

2006-12-01

To determine weather or not the mtDNA(4568) deletions in guinea-pig contribute to the development of presbycusis. Forty-four guinea-pigs were divided into 2 groups: group A (young control group, normal hearing, 22 guineas) and group B (aged group). The group B was subdivided into group B(1) (old normal hearing, 6 guineas) and group B(2) (old hearing loss, 16 guineas). First the guineas were tested by auditory brainstem response (ABR), and then the Cortis's tissues, auditory nerve tissues, brain and blood were harvested and the total DNA was extracted. The mtDNA(4568) deletion was analyzed by PCR. Hearing loss was occurred with age. The mtDNA(4568) deletion incidence of aged group in all tissues was significant higher than that of young control group (Ppresbycusis (B(2) group) were significant higher than that of aged normal hearing group (B(1) group) (Ppresbycusis and aged normal hearing group (P> 0.05). mtDNA(4568) deletion of guinea-pig possibly contributes to aging and mtDNA(4568) deletion in Cortis's and auditory nerve tissues of guinea-pig may be associated with presbycusis. There is no enough evidence to prove that the mtDNA(4568) deletions in brain and blood are related with presbycusis.

14 CFR 1206.202 - Deletion of segregable portions of a record.

Science.gov (United States)

2010-01-01

... 14 Aeronautics and Space 5 2010-01-01 2010-01-01 false Deletion of segregable portions of a record... AVAILABILITY OF AGENCY RECORDS TO MEMBERS OF THE PUBLIC Records Available § 1206.202 Deletion of segregable... that indication would harm an interest protected by the exemption in Subpart 3 under which the deletion...

TTY2 genes deletions as genetic risk factor of male infertility.

Science.gov (United States)

Shaveisi-Zadeh, F; Alibakhshi, R; Asgari, R; Rostami-Far, Z; Bakhtiari, M; Abdi, H; Movafagh, A; Mirfakhraie, R

2017-02-28

Y chromosome has a number of genes that are expressed in testis and have a role in spermatogenesis. TTY2L12A and TTY2L2A are the members of testis transcript Y2 (TTY2) that are Y linked multi-copy gene families, located on Yp11 and Yq11 loci respectively. The aim of this study was to investigate frequency of TTY2L12A and TTY2L2A deletions in azoospermic patients compared with fertile males. This study was performed on 45 infertile males with idiopathic azoospermia without any AZF micro deletions (group A), 33 infertile males with azoospermia which do not screened for AZF micro deletions (group B) and 65 fertile males (group C), from October 2013 to April 2015 in west of Iran. Polymerase chain reaction (PCR) method was used for detection of TTY2L12A and TTY2L2A gene deletions in studied groups. No deletions were detected in normal fertile males of group C. 1 out of 45 azoospermic males of group A (2.22%) and 3 out of 33 azoospermic males of group B (9.09%) had TTY2L2A deletion (p= 0.409 and p= 0.036 respectively), also 1 out of 45 azoospermic males of group A (2.22%) and 4 out of 33 azoospermic males of group B (12.12%) had TTY2L12A deletion (p= 0.409 and p= 0.011 respectively).  None of azoospermic males in Group A and B had deletions in both genes. Our data showed significant correlation between non-obstructive azoospermia and TTY2L12A and TTY2L2A deletions. Thus, it seems that TTY2L12A and TTY2L2A deletions can consider as one of the genetic risk factors for non-obstructive azoospermia.

High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

Science.gov (United States)

Brea-Fernández, A J; Cameselle-Teijeiro, J M; Alenda, C; Fernández-Rozadilla, C; Cubiella, J; Clofent, J; Reñé, J M; Anido, U; Milá, M; Balaguer, F; Castells, A; Castellvi-Bel, S; Jover, R; Carracedo, A; Ruiz-Ponte, C

2014-06-01

Lynch syndrome (LS) is caused by germline mutations in one of the four mismatch repair (MMR) genes. Defects in this pathway lead to microsatellite instability (MSI) in DNA tumors, which constitutes the molecular hallmark of this disease. Selection of patients for genetic testing in LS is usually based on fulfillment of diagnostic clinical criteria (i.e. Amsterdam criteria or the revised Bethesda guidelines). However, following these criteria PMS2 mutations have probably been underestimated as their penetrances appear to be lower than those of the other MMR genes. The use of universal MMR study-based strategies, using MSI testing and immunohistochemical (IHC) staining, is being one proposed alternative. Besides, germline mutation detection in PMS2 is complicated by the presence of highly homologous pseudogenes. Nevertheless, specific amplification of PMS2 by long-range polymerase chain reaction (PCR) and the improvement of the analysis of large deletions/duplications by multiplex ligation-dependent probe amplification (MLPA) overcome this difficulty. By using both approaches, we analyzed 19 PMS2-suspected carriers who have been selected by clinical or universal strategies and found five large deletions and one frameshift mutation in PMS2 in six patients (31%). Owing to the high incidence of large deletions found in our cohort, we recommend MLPA analysis as the first-line method for searching germline mutations in PMS2. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Global adaptation patterns of Australian and CIMMYT spring bread wheat.

Science.gov (United States)

Mathews, Ky L; Chapman, Scott C; Trethowan, Richard; Pfeiffer, Wolfgang; van Ginkel, Maarten; Crossa, Jose; Payne, Thomas; Delacy, Ian; Fox, Paul N; Cooper, Mark

2007-10-01

The International Adaptation Trial (IAT) is a special purpose nursery designed to investigate the genotype-by-environment interactions and worldwide adaptation for grain yield of Australian and CIMMYT spring bread wheat (Triticum aestivum L.) and durum wheat (T. turgidum L. var. durum). The IAT contains lines representing Australian and CIMMYT wheat breeding programs and was distributed to 91 countries between 2000 and 2004. Yield data of 41 reference lines from 106 trials were analysed. A multiplicative mixed model accounted for trial variance heterogeneity and inter-trial correlations characteristic of multi-environment trials. A factor analytic model explained 48% of the genetic variance for the reference lines. Pedigree information was then incorporated to partition the genetic line effects into additive and non-additive components. This model explained 67 and 56% of the additive by environment and non-additive by environment genetic variances, respectively. Australian and CIMMYT germplasm showed good adaptation to their respective target production environments. In general, Australian lines performed well in south and west Australia, South America, southern Africa, Iran and high latitude European and Canadian locations. CIMMYT lines performed well at CIMMYT's key yield testing location in Mexico (CIANO), north-eastern Australia, the Indo-Gangetic plains, West Asia North Africa and locations in Europe and Canada. Maturity explained some of the global adaptation patterns. In general, southern Australian germplasm were later maturing than CIMMYT material. While CIANO continues to provide adapted lines to northern Australia, selecting for yield among later maturing CIMMYT material in CIANO may identify lines adapted to southern and western Australian environments.

Developing bulk exchange spring magnets

Science.gov (United States)

Mccall, Scott K.; Kuntz, Joshua D.

2017-06-27

A method of making a bulk exchange spring magnet by providing a magnetically soft material, providing a hard magnetic material, and producing a composite of said magnetically soft material and said hard magnetic material to make the bulk exchange spring magnet. The step of producing a composite of magnetically soft material and hard magnetic material is accomplished by electrophoretic deposition of the magnetically soft material and the hard magnetic material to make the bulk exchange spring magnet.

Partial USH2A deletions contribute to Usher syndrome in Denmark

DEFF Research Database (Denmark)

Dad, Shzeena; Rendtorff, Nanna Dahl; Kann, Erik

2015-01-01

deletions identified in USH2A. Our results suggest that USH2 is caused by USH2A exon deletions in a small fraction of the patients, whereas deletions or duplications in PCDH15 might be rare in Danish Usher patients.European Journal of Human Genetics advance online publication, 25 March 2015; doi:10.1038...

A Rare Syndrome of Deletion in 2 Siblings

Directory of Open Access Journals (Sweden)

Aravindhan Veerapandiyan MBBS

2017-08-01

Full Text Available The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia. They were found to have a homozygous intragenic deletion within the Glutamate receptor, ionotropic, delta 2 gene at exon 2. Our patients serve as an addition to the literature of previously reported children with this rare clinical syndrome associated with Glutamate receptor, ionotropic, delta 2 deletion.

Vibro-spring particle size distribution analyser

International Nuclear Information System (INIS)

Patel, Ketan Shantilal

2002-01-01

This thesis describes the design and development of an automated pre-production particle size distribution analyser for particles in the 20 - 2000 μm size range. This work is follow up to the vibro-spring particle sizer reported by Shaeri. In its most basic form, the instrument comprises a horizontally held closed coil helical spring that is partly filled with the test powder and sinusoidally vibrated in the transverse direction. Particle size distribution data are obtained by stretching the spring to known lengths and measuring the mass of the powder discharged from the spring's coils. The size of the particles on the other hand is determined from the spring 'intercoil' distance. The instrument developed by Shaeri had limited use due to its inability to measure sample mass directly. For the device reported here, modifications are made to the original configurations to establish means of direct sample mass measurement. The feasibility of techniques for measuring the mass of powder retained within the spring are investigated in detail. Initially, the measurement of mass is executed in-situ from the vibration characteristics based on the spring's first harmonic resonant frequency. This method is often erratic and unreliable due to the particle-particle-spring wall interactions and the spring bending. An much more successful alternative is found from a more complicated arrangement in which the spring forms part of a stiff cantilever system pivoted along its main axis. Here, the sample mass is determined in the 'static mode' by monitoring the cantilever beam's deflection following the wanton termination of vibration. The system performance has been optimised through the variations of the mechanical design of the key components and the operating procedure as well as taking into account the effect of changes in the ambient temperature on the system's response. The thesis also describes the design and development of the ancillary mechanisms. These include the pneumatic

10 CFR 9.19 - Segregation of exempt information and deletion of identifying details.

Science.gov (United States)

2010-01-01

... 10 Energy 1 2010-01-01 2010-01-01 false Segregation of exempt information and deletion of... Information Act Regulations § 9.19 Segregation of exempt information and deletion of identifying details. (a... deletions are made from parts of the record by computer, the amount of information deleted will be indicated...

Multiple Patterns of FHIT Gene Homozygous Deletion in Egyptian Breast Cancer Patients

International Nuclear Information System (INIS)

Ismail, H.M.S.; Zakhary, N.I.; Medhat, A.M.; Karim, A.M.

2011-01-01

Fragile histidine triad (FHIT) gene encodes a putative tumour suppressor protein. Loss of Fhit protein in cancer is attributed to different genetic alterations that affect the FHIT gene structure. In this study, we investigated the pattern of homozygous deletion that target the FHIT gene exons 3 to 9 genomic structure in Egyptian breast cancer patients. We have found that 65% (40 out of 62) of the cases exhibited homozygous deletion in at least one FHIT exon. The incidence of homozygous deletion was not associated with patients clinico pathological parameters including patients age, tumour grade, tumour type, and lymph node involvement. Using correlation analysis, we have observed a strong correlation between homozygous deletions of exon 3 and exon 4 (P<0.0001). Deletions in exon 5 were positively correlated with deletions in exon 7 (P<0.0001), Exon 8 (P<0.027), and exon 9 (P=0.04). Additionally, a strong correlation was observed between exons 8 and exon 9 (P<0.0001).We conclude that FHIT gene exons are homozygously deleted at high frequency in Egyptian women population diagnosed with breast cancer. Three different patterns of homozygous deletion were observed in this population indicating different mechanisms of targeting FHIT gene genomic structure.

Force delivery of Ni-Ti coil springs.

Science.gov (United States)

Manhartsberger, C; Seidenbusch, W

1996-01-01

Sentalloy springs (GAC, Central Islip, N.Y.) of the open and closed type were investigated with a special designed device. The closed coil springs were subjected to a tensile and the open coil springs to a compression test. After a first measurement, the springs were activated for a period of 4 weeks and then reinvestigated with the same procedure. It could be shown distinctly that, with the different coil springs, the force delivery given by the producer could be achieved only within certain limits. To remain in the martensitic plateau, changed activation ranges, and for the Sentalloy coil springs white and red of the open and closed type, also changed force deliveries had to be taken into account. There was a distinct decrease in force delivery between the first and second measurement. After considering the loading curves of all the Sentalloy coil springs and choosing the right activation range respective to the force delivery, it was found that the coil springs deliver a superior clinical behavior and open new treatment possibilities.

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

International Nuclear Information System (INIS)

Bianchi, Marzia; Rizza, Teresa; Verrigni, Daniela; Martinelli, Diego; Tozzi, Giulia; Torraco, Alessandra; Piemonte, Fiorella; Dionisi-Vici, Carlo; Nobili, Valerio; Francalanci, Paola; Boldrini, Renata; Callea, Francesco; Santorelli, Filippo Maria; Bertini, Enrico

2011-01-01

Highlights: ► Expanded array of mtDNA deletions. ► Pearson syndrome with prominent hepatopathy associated with single mtDNA deletions. ► Detection of deletions in fibroblasts and blood avoids muscle and liver biopsy. ► Look for mtDNA deletions before to study nuclear genes related to mtDNA depletion. -- Abstract: Hepatic involvement in mitochondrial cytopathies rarely manifests in adulthood, but is a common feature in children. Multiple OXPHOS enzyme defects in children with liver involvement are often associated with dramatically reduced amounts of mtDNA. We investigated two novel large scale deletions in two infants with a multisystem disorder and prominent hepatopathy. Amount of mtDNA deletions and protein content were measured in different post-mortem tissues. The highest levels of deleted mtDNA were in liver, kidney, pancreas of both patients. Moreover, mtDNA deletions were detected in cultured skin fibroblasts in both patients and in blood of one during life. Biochemical analysis showed impairment of mainly complex I enzyme activity. Patients manifesting multisystem disorders in childhood may harbour rare mtDNA deletions in multiple tissues. For these patients, less invasive blood specimens or cultured fibroblasts can be used for molecular diagnosis. Our data further expand the array of deletions in the mitochondrial genomes in association with liver failure. Thus analysis of mtDNA should be considered in the diagnosis of childhood-onset hepatopathies.

Flow-induced vibration of helical coil compression springs

International Nuclear Information System (INIS)

Stokes, F.E.; King, R.A.

1983-01-01

Helical coil compression springs are used in some nuclear fuel assembly designs to maintain holddown and to accommodate thermal expansion. In the reactor environment, the springs are exposed to flowing water, elevated temperatures and pressures, and irradiation. Flow parallel to the longitudinal axis of the spring may excite the spring coils and cause vibration. The purpose of this investigation was to determine the flow-induced vibration (FIV) response characteristics of the helical coil compression springs. Experimental tests indicate that a helical coil spring responds like a single circular cylinder in cross-flow. Two FIV excitation mechanisms control spring vibration. Namely: 1) Turbulent Buffeting causes small amplitude vibration which increases as a function of velocity squared. 2) Vortex Shedding causes large amplitude vibration when the spring natural frequency and Strouhal frequency coincide. Several methods can be used to reduce or to prevent vortex shedding large amplitude vibrations. One method is compressing the spring to a coil pitch-to-diameter ratio of 2 thereby suppressing the vibration amplitude. Another involves modifying the spring geometry to alter its stiffness and frequency characteristics. These changes result in separation of the natural and Strouhal frequencies. With an understanding of how springs respond in the flowing water environment, the spring physical parameters can be designed to avoid large amplitude vibration. (orig.)

Marble Canyon spring sampling investigation

International Nuclear Information System (INIS)

McCulley, B.

1985-10-01

The Mississippian Leadville Limestone is the most permeable formation in the lower hydrostratigraphic unit underlying the salt beds of the Paradox Formation in Gibson Dome, Paradox Basin, Utah, which is being considered as a potential nuclear waste repository site. The closest downgradient outcrop of the Mississippian limestone is along the Colorado River in Marble Canyon, Arizona. This report describes the sampling and interpretation of springs in that area to assess the relative contribution of Gibson Dome-type Leadville Limestone ground water to that spring discharge. The high-volume (hundreds of liters per second or thousands of gallons per minute) springs discharging from fault zones in Marble Canyon are mixtures of water recharged west of the Colorado River on the Kaibab Plateau and east of the river in the Kaiparowits basin. No component of Gibson Dome-type Leadville Limestone ground water is evident in major and trace element chemistry or isotopic composition of the Marble Canyon Springs. A low-volume (0.3 liters per second or 5 gallons per minute) spring with some chemical and isotopic characteristics of Gibson Dome-type Leadville Limestone water diluted by Kaiparowits basin-type water issues from a travertine mound in the Bright Angel Shale on the Little Colorado River. However, the stable isotopic composition and bromide levels of that spring discharge, in addition to probable ground-water flow paths, contradict the dilution hypothesis

Open-Coil Retraction Spring

Directory of Open Access Journals (Sweden)

Pavankumar Janardan Vibhute

2011-01-01

Full Text Available Sliding mechanic has become a popular method for space closure with developments in preadjusted edgewise appliance. Furthermore, various space closing auxiliaries have been developed and evaluated extensively for their clinical efficiency. Their effectiveness enhanced with optimum force magnitude and low-load deflection rate (LDR/force decay. With the advent of NiTi springs in orthodontics, LDRs have been markedly reduced. For use of NiTi, clinician has to depend upon prefabricated closed coil springs. “Open Coil Retraction Spring (OCRS” is developed utilizing NiTi open-coil spring for orthodontic space closure. This paper describes fabrication and clinical application of OCRS which have number of advantages. It sustains low LDR with optimum force magnitude. Its design is adjustable for desired length and force level. It is fail-safe for both activation and deactivation (i.e., it cannot be over activated, and decompression limit of open coil is also controlled by the operator, resp.. A possibility to offset the OCRS away from mucosa helps to reduce its soft-tissue impingement.

Detecting Springs in the Coastal Area of the Gunungsewu Karst Terrain, Yogyakarta Special Province, Indonesia, Analysis using Fractal Geometry

Directory of Open Access Journals (Sweden)

Sari Bahagiarti Kusumayudha

2009-11-01

Full Text Available The Gunungsewu area is a karst terrain with water scarcity, located in the Yogyakarta Special Province, adjacent to the open sea of Indian Ocean in the South. Shorelines of the Gunungsewu southern parts show fractal geometry phenomenon, and there can be found some groundwater outlets discharging to the Indian Ocean. One of the coastal outlets exists at the Baron Beach.The amount of water discharge from this spring reaches 20,000 l/sec in wet season, and approximately 9000 in dry season. In order to find other potential coastal springs, shoreline of the south coast is divided into some segments. By applying fractal analysis utilizing air photo of 1 : 30,000 scale, the fractal dimension of every shore line segment is determined, and then the fractal dimension value is correlated to the existence of spring in the segment being analyzed. The results inform us that shoreline segments having fractal dimension (D > 1.300 are potential for the occurrence of coastal springs.

Detection of three-base deletion by exciplex formation with perylene derivatives.

Science.gov (United States)

Kashida, Hiromu; Kondo, Nobuyo; Sekiguchi, Koji; Asanuma, Hiroyuki

2011-06-14

Here, we synthesized fluorescent DNA probes labeled with two perylene derivatives for the detection of a three-base deletion mutant. One such probe discriminated the three-base deletion mutant from the wild-type sequence by exciplex emission, and the deletion mutant was identifiable even by the naked eye. This journal is © The Royal Society of Chemistry 2011

Outer grid strap protruding spring repair apparatus

International Nuclear Information System (INIS)

Widener, W.H.

1987-01-01

This patent describes a nuclear fuel assembly grid spring repair apparatus for repairing a spring formed on an outer strap of a fuel assembly grid and having a portion protruding outwardly beyond the strap, the apparatus comprising: (a) a support frame defining an opening and having means defining a guide channel extending along the opening in a first direction; (b) means mounted on the frame and being adjustable for attaching the frame to the outer strap of the support grid so that the frame opening is aligned with the outwardly protruding spring on the outer strap; (c) an outer slide having a passageway defined therethrough and being mounted in the guide channel for reciprocable movement along the frame opening in the first direction for aligning the passageway with the outwardly protruding portion of the spring on the outer strap. The outer slide also has means defining a guide way extending along the passageway in a second direction generally orthogonal to the first direction; (d) a spring reset mechanism being operable for resetting the protruding spring to a nonprotruding position relative to the outer strap when the mechanism is aligned with the protruding portion of the spring; and (e) an inner slide supporting the spring reset mechanism and being mounted to the guide way for reciprocable movement along the passageway of the outer slide in the second direction for aligning the spring reset mechanism with the protruding portion of the spring on the outer strap

Prediction of Spring Rate and Initial Failure Load due to Material Properties of Composite Leaf Spring

International Nuclear Information System (INIS)

Oh, Sung Ha; Choi, Bok Lok

2014-01-01

This paper presented analysis methods for adapting E-glass fiber/epoxy composite (GFRP) materials to an automotive leaf spring. It focused on the static behaviors of the leaf spring due to the material composition and its fiber orientation. The material properties of the GFRP composite were directly measured based on the ASTM standard test. A reverse implementation was performed to obtain the complete set of in-situ fiber and matrix properties from the ply test results. Next, the spring rates of the composite leaf spring were examined according to the variation of material parameters such as the fiber angles and resin contents of the composite material. Finally, progressive failure analysis was conducted to identify the initial failure load by means of an elastic stress analysis and specific damage criteria. As a result, it was found that damage first occurred along the edge of the leaf spring owing to the shear stresses

Pro Spring security

CERN Document Server

Scarioni, Carlo

2013-01-01

Security is a key element in the development of any non-trivial application. The Spring Security Framework provides a comprehensive set of functionalities to implement industry-standard authentication and authorization mechanisms for Java applications. Pro Spring Security will be a reference and advanced tutorial that will do the following: Guides you through the implementation of the security features for a Java web application by presenting consistent examples built from the ground-up. Demonstrates the different authentication and authorization methods to secure enterprise-level applications

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

Science.gov (United States)

D'Souza, Leera; Cukras, Catherine; Antolik, Christian; Craig, Candice; Lee, Ji-Yun; He, Hong; Li, Shibo; Smaoui, Nizar; Hejtmancik, James F; Sieving, Paul A; Wang, Xinjing

2013-01-01

X-linked juvenile retinoschisis (XLRS) is a vitreoretinal dystrophy characterized by schisis (splitting) of the inner layers of the neuroretina. Mutations within the retinoschisis (RS1) gene are responsible for this disease. The mutation spectrum consists of amino acid substitutions, splice site variations, small indels, and larger genomic deletions. Clinically, genomic deletions are rarely reported. Here, we characterize two novel full exonic deletions: one encompassing exon 1 and the other spanning exons 4-5 of the RS1 gene. We also report the clinical findings in these patients with XLRS with two different exonic deletions. Unrelated XLRS men and boys and their mothers (if available) were enrolled for molecular genetics evaluation. The patients also underwent ophthalmologic examination and in some cases electroretinogram (ERG) recording. All the exons and the flanking intronic regions of the RS1 gene were analyzed with direct sequencing. Two patients with exonic deletions were further evaluated with array comparative genomic hybridization to define the scope of the genomic aberrations. After the deleted genomic region was identified, primer walking followed by direct sequencing was used to determine the exact breakpoints. Two novel exonic deletions of the RS1 gene were identified: one including exon 1 and the other spanning exons 4 and 5. The exon 1 deletion extends from the 5' region of the RS1 gene (including the promoter) through intron 1 (c.(-35)-1723_c.51+2664del4472). The exon 4-5 deletion spans introns 3 to intron 5 (c.185-1020_c.522+1844del5764). Here we report two novel exonic deletions within the RS1 gene locus. We have also described the clinical presentations and hypothesized the genomic mechanisms underlying these schisis phenotypes.

Development of a wheat-Aegilops searsii substitution line with positively affecting Chinese steamed bread quality.

Science.gov (United States)

Du, Xuye; Ma, Xin; Min, Jingzhi; Zhang, Xiaocun; Jia, Zhenzhen

2018-03-01

A wheat- Aegilops searsii substitution line GL1402, in which chromosome 1B was substituted with 1S s from Ae. searsii , was developed and detected using SDS-PAGE and GISH. The SDS-PAGE analysis showed that the HMW-GS encoded by the Glu-B1 loci of Chinese Spring was replaced by the HMW-GS encoded by the Glu-1S s loci of Ae. searsii . Glutenin macropolymer (GMP) investigation showed that GL1402 had a much higher GMP content than Chinese Spring did. A dough quality comparison of GL1402 and Chinese Spring indicated that GL1402 showed a significantly higher protein content and middle peak time (MPT), and a smaller right peak slope (RPS). Quality tests of Chinese steamed bread (CSB) showed that the GL1402 also produced good steamed bread quality. These results suggested that the substitution line is a valuable breeding material for improving the wheat processing quality.

1988 Hanford riverbank springs characterization report

International Nuclear Information System (INIS)

Dirkes, R.L.

1990-12-01

This reports presents the results of a special study undertaken to characterize the riverbank springs (i.e., ground-water seepage) entering the Columbia River along the Hanford Site. Radiological and nonradiological analyses were performed. River water samples were also analyzed from upstream and downstream of the Site as well as from the immediate vicinity of the springs. In addition, irrigation return water and spring water entering the river along the shoreline opposite Hanford were analyzed. Hanford-origin contaminants were detected in spring water entering the Columbia River along the Hanford Site. The type and concentrations of contaminants in the spring water were similar to those known to exist in the ground water near the river. The location and extent of the contaminated discharges compared favorably with recent ground-water reports and predictions. Spring discharge volumes remain very small relative to the flow of the Columbia. Downstream river sampling demonstrates the impact of ground-water discharges to be minimal, and negligible in most cases. Radionuclide concentrations were below US Department of Energy Derived Concentration Guides (DCGs) with the exception 90 Sr near the 100-N Area. Tritium, while below the DCG, was detected at concentrations above the US Environmental Protection Agency drinking water standards in several springs. All other radionuclide concentrations were below drinking water standards. Nonradiological contaminants were generally undetectable in the spring water. River water contaminant concentrations, outside of the immediate discharge zones, were below drinking water standards in all cases. 19 refs., 5 figs., 12 tabs

A springs actuated finger exoskeleton: From mechanical design to spring variables evaluation.

Science.gov (United States)

Bortoletto, Roberto; Mello, Ashley N; Piovesan, Davide

2017-07-01

In the context of post-stroke patients, suffering of hemiparesis of the hand, robot-aided neuro-motor rehabilitation allows for intensive rehabilitation treatments and quantitative evaluation of patients' progresses. This work presents the design and evaluation of a spring actuated finger exoskeleton. In particular, the spring variables and the interaction forces between the assembly and the hand were investigated, in order to assess the effectiveness of the proposed exoskeleton.

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

Energy Technology Data Exchange (ETDEWEB)

Bianchi, Marzia; Rizza, Teresa; Verrigni, Daniela [Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Martinelli, Diego [Division of Metabolism, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Tozzi, Giulia; Torraco, Alessandra; Piemonte, Fiorella [Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Dionisi-Vici, Carlo [Division of Metabolism, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Nobili, Valerio [Gastroenterology and Liver Unit, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Francalanci, Paola; Boldrini, Renata; Callea, Francesco [Dept. Pathology, ' Bambino Gesu' Children' s Hospital, Rome (Italy); Santorelli, Filippo Maria [UOC Neurogenetica e Malattie Neuromuscolari, Fondazione Stella Maris, Pisa (Italy); Bertini, Enrico [Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, ' Bambino Gesu' Children' s Hospital, Rome (Italy); and others

2011-11-18

Highlights: Black-Right-Pointing-Pointer Expanded array of mtDNA deletions. Black-Right-Pointing-Pointer Pearson syndrome with prominent hepatopathy associated with single mtDNA deletions. Black-Right-Pointing-Pointer Detection of deletions in fibroblasts and blood avoids muscle and liver biopsy. Black-Right-Pointing-Pointer Look for mtDNA deletions before to study nuclear genes related to mtDNA depletion. -- Abstract: Hepatic involvement in mitochondrial cytopathies rarely manifests in adulthood, but is a common feature in children. Multiple OXPHOS enzyme defects in children with liver involvement are often associated with dramatically reduced amounts of mtDNA. We investigated two novel large scale deletions in two infants with a multisystem disorder and prominent hepatopathy. Amount of mtDNA deletions and protein content were measured in different post-mortem tissues. The highest levels of deleted mtDNA were in liver, kidney, pancreas of both patients. Moreover, mtDNA deletions were detected in cultured skin fibroblasts in both patients and in blood of one during life. Biochemical analysis showed impairment of mainly complex I enzyme activity. Patients manifesting multisystem disorders in childhood may harbour rare mtDNA deletions in multiple tissues. For these patients, less invasive blood specimens or cultured fibroblasts can be used for molecular diagnosis. Our data further expand the array of deletions in the mitochondrial genomes in association with liver failure. Thus analysis of mtDNA should be considered in the diagnosis of childhood-onset hepatopathies.

A local-world node deleting evolving network model

International Nuclear Information System (INIS)

Gu Yuying; Sun Jitao

2008-01-01

A new type network growth rule which comprises node addition with the concept of local-world connectivity and node deleting is studied. A series of theoretical analysis and numerical simulation to the LWD network are conducted in this Letter. Firstly, the degree distribution p(k) of this network changes no longer pure scale free but truncates by an exponential tail and the truncation in p(k) increases as p a decreases. Secondly, the connectivity is tighter, as the local-world size M increases. Thirdly, the average path length L increases and the clustering coefficient decreases as generally node deleting increases. Finally, trends up when the local-world size M increases, so as to k max . Hence, the expanding local-world can compensate the infection of the node deleting

A local-world node deleting evolving network model

Energy Technology Data Exchange (ETDEWEB)

Gu Yuying [Department of Mathematics, Tongji University, Shanghai 200092 (China); Sun Jitao [Department of Mathematics, Tongji University, Shanghai 200092 (China)], E-mail: sunjt@sh163.net

2008-06-16

A new type network growth rule which comprises node addition with the concept of local-world connectivity and node deleting is studied. A series of theoretical analysis and numerical simulation to the LWD network are conducted in this Letter. Firstly, the degree distribution p(k) of this network changes no longer pure scale free but truncates by an exponential tail and the truncation in p(k) increases as p{sub a} decreases. Secondly, the connectivity is tighter, as the local-world size M increases. Thirdly, the average path length L increases and the clustering coefficient decreases as generally node deleting increases. Finally, trends up when the local-world size M increases, so as to k{sub max}. Hence, the expanding local-world can compensate the infection of the node deleting.

Portrait of a Geothermal Spring, Hunter's Hot Springs, Oregon.

Science.gov (United States)

Castenholz, Richard W

2015-01-27

Although alkaline Hunter's Hot Springs in southeastern Oregon has been studied extensively for over 40 years, most of these studies and the subsequent publications were before the advent of molecular methods. However, there are many field observations and laboratory experiments that reveal the major aspects of the phototrophic species composition within various physical and chemical gradients of these springs. Relatively constant temperature boundaries demark the upper boundary of the unicellular cyanobacterium, Synechococcus at 73-74 °C (the world-wide upper limit for photosynthesis), and 68-70 °C the upper limit for Chloroflexus. The upper limit for the cover of the filamentous cyanobacterium, Geitlerinema (Oscillatoria) is at 54-55 °C, and the in situ lower limit at 47-48 °C for all three of these phototrophs due to the upper temperature limit for the grazing ostracod, Thermopsis. The in situ upper limit for the cyanobacteria Pleurocapsa and Calothrix is at ~47-48 °C, which are more grazer-resistant and grazer dependent. All of these demarcations are easily visible in the field. In addition, there is a biosulfide production in some sections of the springs that have a large impact on the microbiology. Most of the temperature and chemical limits have been explained by field and laboratory experiments.

Soft tissue modelling with conical springs.

Science.gov (United States)

Omar, Nadzeri; Zhong, Yongmin; Jazar, Reza N; Subic, Aleksandar; Smith, Julian; Shirinzadeh, Bijan

2015-01-01

This paper presents a new method for real-time modelling soft tissue deformation. It improves the traditional mass-spring model with conical springs to deal with nonlinear mechanical behaviours of soft tissues. A conical spring model is developed to predict soft tissue deformation with reference to deformation patterns. The model parameters are formulated according to tissue deformation patterns and the nonlinear behaviours of soft tissues are modelled with the stiffness variation of conical spring. Experimental results show that the proposed method can describe different tissue deformation patterns using one single equation and also exhibit the typical mechanical behaviours of soft tissues.

Brand deletion: How the decision-making approach affects deletion success

OpenAIRE

Víctor Temprano-García; Ana Isabel Rodríguez-Escudero; Javier Rodríguez-Pinto

2018-01-01

Literature on brand deletion (BD), a critical and topical decision within a firm's marketing strategy, is extremely scarce. The present research is concerned with the decision-making process and examines the effect on BD success of three different approaches to decision-making – rational, intuitive and political – and of the interaction between the rational and political approaches. The moderating effect of the type of BD – i.e., total brand killing or disposal vs. brand name change – is also...

Dual entanglement measures based on no local cloning and no local deleting

International Nuclear Information System (INIS)

Horodecki, Michal; Sen, Aditi; Sen, Ujjwal

2004-01-01

The impossibility of cloning and deleting of unknown states constitute important restrictions on processing of information in the quantum world. On the other hand, a known quantum state can always be cloned or deleted. However, if we restrict the class of allowed operations, there will arise restrictions on the ability of cloning and deleting machines. We have shown that cloning and deleting of known states is in general not possible by local operations. This impossibility hints at quantum correlation in the state. We propose dual measures of quantum correlation based on the dual restrictions of no local cloning and no local deleting. The measures are relative entropy distances of the desired states in a (generally impossible) perfect local cloning or local deleting process from the best approximate state that is actually obtained by imperfect local cloning or deleting machines. Just like the dual measures of entanglement cost and distillable entanglement, the proposed measures are based on important processes in quantum information. We discuss their properties. For the case of pure states, estimations of these two measures are also provided. Interestingly, the entanglement of cloning for a maximally entangled state of two two-level systems is not unity

DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia.

Science.gov (United States)

Tan, Jin Ai Mary Anne; Kho, Siew Leng; Ngim, Chin Fang; Chua, Kek Heng; Goh, Ai Sim; Yeoh, Seoh Leng; George, Elizabeth

2016-06-08

Haemoglobin (Hb) Adana (HBA2:c.179>A) interacts with deletional and nondeletional α-thalassaemia mutations to produce HbH disorders with varying clinical manifestations from asymptomatic to severe anaemia with significant hepatosplenomegaly. Hb Adana carriers are generally asymptomatic and haemoglobin subtyping is unable to detect this highly unstable α-haemoglobin variant. This study identified 13 patients with compound heterozygosity for Hb Adana with either the 3.7 kb gene deletion (-α(3.7)), Hb Constant Spring (HbCS) (HBA2:c.427T>C) or Hb Paksé (HBA2:429A>T). Multiplex Amplification Refractory Mutation System was used for the detection of five deletional and six nondeletional α-thalassaemia mutations. Duplex-PCR was used to confirm Hb Paksé and HbCS. Results showed 84.6% of the Hb Adana patients were Malays. Using DNA studies, compound heterozygosity for Hb Adana and HbCS (α(codon 59)α/α(CS)α) was confirmed in 11 patients. A novel point in this investigation was that DNA studies confirmed Hb Paksé for the first time in a Malaysian patient (α(codon 59)α/α(Paksé)α) after nine years of being misdiagnosis with Hb Adana and HbCS (α(codon 59)α/α(CS)α). Thus, the reliance on haematology studies and Hb subtyping to detect Hb variants is inadequate in countries where thalassaemia is prevalent and caused by a wide spectrum of mutations.

24 CFR 990.155 - Addition and deletion of units.

Science.gov (United States)

2010-04-01

... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Addition and deletion of units. 990.155 Section 990.155 Housing and Urban Development Regulations Relating to Housing and Urban...; Computation of Eligible Unit Months § 990.155 Addition and deletion of units. (a) Changes in public housing...

Isolators Including Main Spring Linear Guide Systems

Science.gov (United States)

Goold, Ryan (Inventor); Buchele, Paul (Inventor); Hindle, Timothy (Inventor); Ruebsamen, Dale Thomas (Inventor)

2017-01-01

Embodiments of isolators, such as three parameter isolators, including a main spring linear guide system are provided. In one embodiment, the isolator includes first and second opposing end portions, a main spring mechanically coupled between the first and second end portions, and a linear guide system extending from the first end portion, across the main spring, and toward the second end portion. The linear guide system expands and contracts in conjunction with deflection of the main spring along the working axis, while restricting displacement and rotation of the main spring along first and second axes orthogonal to the working axis.

Discrimination of Deletion and Duplication Subtypes of the Deleted in Azoospermia Gene Family in the Context of Frequent Interloci Gene Conversion

Science.gov (United States)

Vaszkó, Tibor; Papp, János; Krausz, Csilla; Casamonti, Elena; Géczi, Lajos; Olah, Edith

2016-01-01

Due to its palindromic setup, AZFc (Azoospermia Factor c) region of chromosome Y is one of the most unstable regions of the human genome. It contains eight gene families expressed mainly in the testes. Several types of rearrangement resulting in changes in the cumulative copy number of the gene families were reported to be associated with diseases such as male infertility and testicular germ cell tumors. The best studied AZFc rearrangement is gr/gr deletion. Its carriers show widespread phenotypic variation from azoospermia to normospermia. This phenomenon was initially attributed to different gr/gr subtypes that would eliminate distinct members of the affected gene families. However, studies conducted to confirm this hypothesis have brought controversial results, perhaps, in part, due to the shortcomings of the utilized subtyping methodology. This proof-of-concept paper is meant to introduce here a novel method aimed at subtyping AZFc rearrangements. It is able to differentiate the partial deletion and partial duplication subtypes of the Deleted in Azoospermia (DAZ) gene family. The keystone of the method is the determination of the copy number of the gene family member-specific variant(s) in a series of sequence family variant (SFV) positions. Most importantly, we present a novel approach for the correct interpretation of the variant copy number data to determine the copy number of the individual DAZ family members in the context of frequent interloci gene conversion.Besides DAZ1/DAZ2 and DAZ3/DAZ4 deletions, not yet described rearrangements such as DAZ2/DAZ4 deletion and three duplication subtypes were also found by the utilization of the novel approach. A striking feature is the extremely high concordance among the individual data pointing to a certain type of rearrangement. In addition to being able to identify DAZ deletion subtypes more reliably than the methods used previously, this approach is the first that can discriminate DAZ duplication subtypes as well

Sex-specific aspects of endogenous retroviral insertion and deletion.

Science.gov (United States)

Gemmell, Patrick; Hein, Jotun; Katzourakis, Aris

2013-11-07

We wish to understand how sex and recombination affect endogenous retroviral insertion and deletion. While theory suggests that the risk of ectopic recombination will limit the accumulation of repetitive DNA in areas of high meiotic recombination, the experimental evidence so far has been inconsistent. Under the assumption of neutrality, we examine the genomes of eighteen species of animal in order to compute the ratio of solo-LTRs that derive from insertions occurring down the male germ line as opposed to the female one (male bias). We also extend the simple idea of comparing autosome to allosome in order to predict the ratio of full-length proviruses we would expect to see under conditions of recombination linked deletion or otherwise. Using our model, we predict the ratio of allosomal to autosomal full-length proviruses to lie between32 and 23 under increasing male bias in mammals and between 1 and 2 under increasing male bias in birds. In contrast to our expectations, we find that a pattern of male bias is not universal across species and that there is a frequent overabundance of full-length proviruses on the allosome beyond the ratios predicted by our model. We use our data as a whole to argue that full-length proviruses should be treated as deleterious mutations or as effectively neutral mutations whose persistence in a full-length state is linked to the rate of meiotic recombination and whose origin is not universally male biased. These conclusions suggest that retroviral insertions on the allosome may be more prolific and that it might be possible to identify mechanisms of replication that are enhanced in the female sex.

Sequence characterisation of deletion breakpoints in the dystrophin gene by PCR

Energy Technology Data Exchange (ETDEWEB)

Abbs, S.; Sandhu, S.; Bobrow, M. [Guy`s Hospital, London (United Kingdom)

1994-09-01

Partial deletions of the dystrophin gene account for 65% of cases of Duchenne muscular dystrophy. A high proportion of these structural changes are generated by new mutational events, and lie predominantly within two `hotspot` regions, yet the underlying reasons for this are not known. We are characterizing and sequencing the regions surrounding deletion breakpoints in order to: (i) investigate the mechanisms of deletion mutation, and (ii) enable the design of PCR assays to specifically amplify mutant and normal sequences, allowing us to search for the presence of somatic mosaicism in appropriate family members. Using this approach we have been able to demonstrate the presence of somatic mosaicism in a maternal grandfather of a DMD-affected male, deleted for exons 49-50. Three deletions, namely of exons 48-49, 49-50, and 50, have been characterized using a PCR approach that avoids any cloning procedures. Breakpoints were initially localized to within regions of a few kilobases using Southern blot restriction analyses with exon-specific probes and PCR amplification of exonic and intronic loci. Sequencing was performed directly on PCR products: (i) mutant sequences were obtained from long-range or inverse-PCR across the deletion junction fragments, and (ii) normal sequences were obtained from the products of standard PCR, vectorette PCR, or inverse-PCR performed on YACs. Further characterization of intronic sequences will allow us to amplify and sequence across other deletion breakpoints and increase our knowledge of the mechanisms of mutation in the dystophin gene.

Thorough analysis of unorthodox ABO deletions called by the 1000 Genomes project.

Science.gov (United States)

Möller, M; Hellberg, Å; Olsson, M L

2018-02-01

ABO remains the clinically most important blood group system, but despite earlier extensive research, significant findings are still being made. The vast majority of catalogued ABO null alleles are based on the c.261delG polymorphism. Apart from c.802G>A, other mechanisms for O alleles are rare. While analysing the data set from the 1000 Genomes (1000G) project, we encountered two previously uncharacterized deletions, which needed further exploration. The Erythrogene database, complemented with bioinformatics software, was used to analyse ABO in 2504 individuals from 1000G. DNA samples from selected 1000G donors and African blood donors were examined by allele-specific PCR and Sanger sequencing to characterize predicted deletions. A 5821-bp deletion encompassing exons 5-7 was called in twenty 1000G individuals, predominantly Africans. This allele was confirmed and its exact deletion point defined by bioinformatic analyses and in vitro experiments. A PCR assay was developed, and screening of African samples revealed three donors heterozygous for this deletion, which was thereby phenotypically established as an O allele. Analysis of upstream genetic markers indicated an ancestral origin from ABO*O.01.02. We estimate this deletion as the 3rd most common mechanism behind O alleles. A 24-bp deletion was called in nine individuals and showed greater diversity regarding ethnic distribution and allelic background. It could neither be confirmed by in silico nor in vitro experiments. A previously uncharacterized ABO deletion among Africans was comprehensively mapped and a genotyping strategy devised. The false prediction of another deletion emphasizes the need for cautious interpretation of NGS data and calls for strict validation routines. © 2017 International Society of Blood Transfusion.

Do mtDNA Deletions Play a Role in the Development of Nasal Polyposis?

Directory of Open Access Journals (Sweden)

Arzu Tatar

2014-04-01

Full Text Available Objective:Nasal polyposis (NP is an inflammatory disease of the nasal mucosa and paranasal sinuses. Mitochondria are the cellular organelles which produce cellular energy by Oxidative Phosphorylation (OXPHOS, and they have own inheritance material, mtDNA. mtDNA is affected by reactive oxygen samples (ROS which are produced by both OXPHOS and the inflammatory process. The aim of this study was to investigate the 4977 bp and 7400 bp deletions of mtDNA in nasal polyposis tissue, and to indicate the possible association of mtDNA deletions with NP. Methods:Thirty-three patients, aged 15 to 65 years, with nasal polyposis were selected to be assessed for mitochondrial DNA deletions. The patients with possible mtDNA mutations due to mitochondrial disease, being treated with radiotherapy, of advanced age, with a familiar history, aspirin hypersensitivity, or a history of asthma, were excluded. Polyp excision surgery was applied to the treatment of the NP, and after histopathological diagnosis 1x1 cm of polyp tissue samples were used to isolate mtDNA. The 4977 bp and 7400 bp deletion regions, and two control regions of mtDNA were assessed by using four pairs of primers. DNA extractions from the NP tissues and peripheral blood samples of the patients were made, and then Polymerase Chain Reactions (PCR were made. PCR products were separated in 2% agarose gel.Results:No patient had either the 4977 bp deletion or the 7400 bp deletion in their NP tissue, and neither were these deletions evident in their peripheral blood. Two control sequences, one of them from a non-deleted region, and the other from a possible deletion region, were detected in the NP tissues and peripheral blood of all the patients.Conclusions:We had anticipated that some mtDNA deletion might have occurred in NP tissue due to the increased ROS levels caused by chronic inflammation, but we did not detect any deletion. Probably, the duration of inflammation in NP is insufficient to form mt

Masters of the springs

DEFF Research Database (Denmark)

Laursen, Steffen

2010-01-01

flanked by villages that relied on these water recourses for agricultural production. The springs emerged in the zone separating the cemeteries from the settlements. The freshwater springs were actively incorporated into the religious landscape of the dead, by consistently erecting mounds of a particular...... for water - a process which perhaps also is evidenced by temple constructions at Barbar, Umm al-Sujur and Abu Zaydan....

Optical spring effect in nanoelectromechanical systems

International Nuclear Information System (INIS)

Tian, Feng; Zhou, Guangya; Du, Yu; Chau, Fook Siong; Deng, Jie

2014-01-01

In this Letter, we report a hybrid system consisting of nano-optical and nano-mechanical springs, in which the optical spring effect works to adjust the mechanical frequency of a nanoelectromechanical systems resonator. Nano-scale folded beams are fabricated as the mechanical springs and double-coupled one-dimensional photonic crystal cavities are used to pump the “optical spring.” The dynamic characteristics of this hybrid system are measured and analyzed at both low and high input optical powers. This study leads the physical phenomenon of optomechanics in complex nano-opto-electro-mechanical systems (NOEMS) and could benefit the future applications of NOEMS in chip-level communication and sensing

Structural behaviour of masonry arch with no-horizontal springing settlement

Directory of Open Access Journals (Sweden)

P. Zampieri

2018-01-01

Full Text Available This paper presents a calculation procedure for assessing the structural integrity of a masonry arch with non-horizontal springing settlement. By applying the Principle of Virtual Work (PVW to the deformed arch system, the procedure proposed herein details the reaction forces and thrust lines for each step of imposed settlement of the support. The procedure can also be used estimate the final displacement that causes complete failure of arch structural capacity. The results of the analysis procedure were compared against those obtained by experimental testing so as to validate the proposed calculation method

Oncolytic Replication of E1b-Deleted Adenoviruses

Directory of Open Access Journals (Sweden)

Pei-Hsin Cheng

2015-11-01

Full Text Available Various viruses have been studied and developed for oncolytic virotherapies. In virotherapy, a relatively small amount of viruses used in an intratumoral injection preferentially replicate in and lyse cancer cells, leading to the release of amplified viral particles that spread the infection to the surrounding tumor cells and reduce the tumor mass. Adenoviruses (Ads are most commonly used for oncolytic virotherapy due to their infection efficacy, high titer production, safety, easy genetic modification, and well-studied replication characteristics. Ads with deletion of E1b55K preferentially replicate in and destroy cancer cells and have been used in multiple clinical trials. H101, one of the E1b55K-deleted Ads, has been used for the treatment of late-stage cancers as the first approved virotherapy agent. However, the mechanism of selective replication of E1b-deleted Ads in cancer cells is still not well characterized. This review will focus on three potential molecular mechanisms of oncolytic replication of E1b55K-deleted Ads. These mechanisms are based upon the functions of the viral E1B55K protein that are associated with p53 inhibition, late viralmRNAexport, and cell cycle disruption.

The male gametophytic sterility. 1 - Gametic sterilities and deletions in petunia

International Nuclear Information System (INIS)

Cornu, A.; Maizonnier, D.

1982-01-01

Terminal deletions induced by ionizing radiations in Petunia are not sexually transmitted. Cytogenetic study of plants with a heterozygous deletion and their progenies shows that this lack of transmission is accompanied by a gametic semi-sterility due to the fact that gametes carrying the deleted chromosome are not viable. The interest of such a male sterility with a gametophytic determinism for the study of sporophyte-gametophyte relationships is underlined [fr

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

Science.gov (United States)

Cukier, Holly N.; Kunkle, Brian W.; Vardarajan, Badri N.; Rolati, Sophie; Hamilton-Nelson, Kara L.; Kohli, Martin A.; Whitehead, Patrice L.; Dombroski, Beth A.; Van Booven, Derek; Lang, Rosalyn; Dykxhoorn, Derek M.; Farrer, Lindsay A.; Cuccaro, Michael L.; Vance, Jeffery M.; Gilbert, John R.; Beecham, Gary W.; Martin, Eden R.; Carney, Regina M.; Mayeux, Richard; Schellenberg, Gerard D.; Byrd, Goldie S.; Haines, Jonathan L.

2016-01-01

Objective: To identify a causative variant(s) that may contribute to Alzheimer disease (AD) in African Americans (AA) in the ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene, a known risk factor for late-onset AD. Methods: Custom capture sequencing was performed on ∼150 kb encompassing ABCA7 in 40 AA cases and 37 AA controls carrying the AA risk allele (rs115550680). Association testing was performed for an ABCA7 deletion identified in large AA data sets (discovery n = 1,068; replication n = 1,749) and whole exome sequencing of Caribbean Hispanic (CH) AD families. Results: A 44-base pair deletion (rs142076058) was identified in all 77 risk genotype carriers, which shows that the deletion is in high linkage disequilibrium with the risk allele. The deletion was assessed in a large data set (531 cases and 527 controls) and, after adjustments for age, sex, and APOE status, was significantly associated with disease (p = 0.0002, odds ratio [OR] = 2.13 [95% confidence interval (CI): 1.42–3.20]). An independent data set replicated the association (447 cases and 880 controls, p = 0.0117, OR = 1.65 [95% CI: 1.12–2.44]), and joint analysis increased the significance (p = 1.414 × 10−5, OR = 1.81 [95% CI: 1.38–2.37]). The deletion is common in AA cases (15.2%) and AA controls (9.74%), but in only 0.12% of our non-Hispanic white cohort. Whole exome sequencing of multiplex, CH families identified the deletion cosegregating with disease in a large sibship. The deleted allele produces a stable, detectable RNA strand and is predicted to result in a frameshift mutation (p.Arg578Alafs) that could interfere with protein function. Conclusions: This common ABCA7 deletion could represent an ethnic-specific pathogenic alteration in AD. PMID:27231719

MTAP deletion confers enhanced dependency on the PRMT5 arginine methyltransferase in cancer cells | Office of Cancer Genomics

Science.gov (United States)

The discovery of cancer dependencies has the potential to inform therapeutic strategies and to identify putative drug targets. Integrating data from comprehensive genomic profiling of cancer cell lines and from functional characterization of cancer cell dependencies, we discovered that loss of the enzyme methylthioadenosine phosphorylase (MTAP) confers a selective dependence on protein arginine methyltransferase 5 (PRMT5) and its binding partner WDR77. MTAP is frequently lost due to its proximity to the commonly deleted tumor suppressor gene, CDKN2A.

41 CFR 51-6.8 - Deletion of items from the Procurement List.

Science.gov (United States)

2010-07-01

... 41 Public Contracts and Property Management 1 2010-07-01 2010-07-01 true Deletion of items from...-PROCUREMENT PROCEDURES § 51-6.8 Deletion of items from the Procurement List. (a) When a central nonprofit... shall notify the Committee staff immediately. Before reaching a decision to request a deletion of an...

Chronic blockade or constitutive deletion of the serotonin transporter reduces operant responding for food reward.

Science.gov (United States)

Sanders, Amy Cecilia; Hussain, Ali J; Hen, René; Zhuang, Xiaoxi

2007-11-01

The therapeutic effects of chronic selective serotonin reuptake inhibitors (SSRIs) are well documented, yet the elementary behavioral processes that are affected by such treatment have not been fully investigated. We report here the effects of chronic fluoxetine treatment and genetic deletion of the serotonin transporter (SERT) on food reinforced behavior in three paradigms: the progressive ratio operant task, the concurrent choice operant task, and the Pavlovian-to-Instrumental transfer task. We consistently find that chronic pharmacological blockade or genetic deletion of SERT result in similar behavioral consequences: reduced operant responding for natural reward. This is in line with previous studies reporting declines in operant responding for drugs and intracranial self-stimulation with fluoxetine treatment, suggesting that the effect of SERT blockade can be generalized to different reward types. Detailed analyses of behavioral parameters indicate that this reduction in operant responding affect both goal-directed and non-goal-directed behaviors without affecting the Pavlovian cue-triggered excessive operant responding. In addition, both pharmacological and genetic manipulations reduce locomotor activity in the open field novel environment. Our data contrast with the effect of dopamine in increasing operant responding for natural reward specifically in goal-directed behaviors and in increasing Pavlovian cue-triggered excessive operant responding. Serotonin and dopamine have been proposed to serve opposing functions in motivational processes. Our data suggest that their interactions do not result in simple opponency. The fact that pharmacological blockade and genetic deletion of SERT have similar behavioral consequences reinforces the utility of the SERT null mice for investigation of the mechanisms underlying chronic SSRIs treatment.

Interleukin 3 gene is located on human chromosome 5 and is deleted in myeloid leukemias with a deletion of 5q

International Nuclear Information System (INIS)

Le Beau, M.M.; Epstein, N.D.; O'Brien, S.J.; Nienhuis, A.W.; Yang, Y.C.; Clark, S.C.; Rowley, J.D.

1987-01-01

The gene IL-3 encodes interleukin 3, a hematopoietic colony-stimulating factor (CSF) that is capable of supporting the proliferation of a broad range of hematopoietic cell types. By using somatic cell hybrids and in situ chromosomal hybridization, the authors localized this gene to human chromosome 5 at bands q23-31, a chromosomal region that is frequently deleted [del(5q)] in patients with myeloid disorders. By in situ hybridization, IL-3 was found to be deleted in the 5q-chromosome of one patient with refractory anemia who had a del(5)(q15q33.3), of three patients with refractory anemia (two patients) or acute nonlymphocytic leukemia (ANLL) de novo who had a similar distal breakpoint [del(5)(q13q33.3)], and of a fifth patient, with therapy-related ANLL, who had a similar distal breakpoint in band q33[del(5)(q14q33.3)]. Southern blot analysis of somatic cell hybrids retaining the normal or the deleted chromosome 5 from two patients with the refractory anemia 5q- syndrome indicated that IL-3 sequences were absent from the hybrids retaining the deleted chromosome 5 but not from hybrids that had a cytologically normal chromosome 5. Thus, a small segment of chromosome 5 contains IL-3, GM-CSF, CSF-1, and FMS. The findings and earlier results indicating that GM-CSF, CSF-1, and FMS were deleted in the 5q- chromosome, suggest that loss of IL-3 or of other CSF genes may play an important role in the pathogenesis of hematologic disorders associated with a del(5q)

Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis

DEFF Research Database (Denmark)

Tanii, H; Ankarcrona, M; Flood, F

2000-01-01

. In the present study, we determined whether PS1 mutations also sensitize cells to hyperosmotic stress-induced apoptosis. For this, we established SH-SY5Y neuroblastoma cell lines stably transfected with wild-type PS1 or either the PS1 exon 9 deletion (deltaE9) or PS1 L250S mutants. Cultured cells were exposed...

Fossilization Processes in Thermal Springs

Science.gov (United States)

Farmer, Jack D.; Cady, Sherry; Desmarais, David J.; Chang, Sherwood (Technical Monitor)

1995-01-01

To create a comparative framework for the study of ancient examples, we have been carrying out parallel studies of the microbial biosedimentology, taphonomy and geochemistry of modem and sub-Recent thermal spring deposits. One goal of the research is the development of integrated litho- and taphofacies models for siliceous and travertline sinters. Thermal springs are regarded as important environments for the origin and early evolution of life on Earth, and we seek to utilize information from the fossil record to reconstruct the evolution of high temperature ecosystems. Microbial contributions to the fabric of thermal spring sinters occur when population growth rates keep pace with, or exceed rates of inorganic precipitation, allowing for the development of continuous biofilms or mats. In siliceous thermal springs, microorganisms are typically entombed while viable. Modes of preservation reflect the balance between rates of organic matter degradation, silica precipitation and secondary infilling. Subaerial sinters are initially quite porous and permeable and at temperatures higher than about 20 C, organic materials are usually degraded prior to secondary infilling of sinter frameworks. Thus, organically-preserved microfossils are rare and fossil information consists of characteristic biofabrics formed by the encrustation and underplating of microbial mat surfaces. This probably accounts for the typically low total organic carbon values observed in thermal spring deposits. In mid-temperature, (approx. 35 - 59 C) ponds and outflows, the surface morphology of tufted Phormidium mats is preserved through mat underplating by thin siliceous: crusts. Microbial taxes lead to clumping of ceils and/or preferred filament orientations that together define higher order composite fabrics in thermal spring stromatolites (e.g. network, coniform, and palisade). At lower temperatures (less than 35 C), Calothrix mats cover shallow terracette pools forming flat carpets or pustular

European supply chain for valve springs

Energy Technology Data Exchange (ETDEWEB)

Barthold, G. [Scherdel GmbH, Marktredwitz (Germany); Thureborn, D.; Hallberg, M. [Haldex Garphyttan AB (Sweden); Janssen, P. [Mittal Steel Ruhrort GmbH / Mittal Steel Hochfeld GmbH (Germany)

2005-07-01

Forced by the Kobe earthquake in 1995 and the lack of valve spring steel on the world market due to damages of the Kobe steel plant, the development of a European supply chain has been sped up. End of 1994 a super clean valve spring steel with a reasonable quality from a European source was available. A strong relationship between the steel producer (Mittal), the wire manufacturer (Haldex Garphyttan) and the spring maker (Scherdel) was established. A working group of the three companies holds meetings on a regular basis to discuss quality and development issues. Over the last years the supply chain has achieved significant improvements in terms of cleanliness and decarburisation of the wire rod. The continuous common advancement of the valve spring quality has enabled the valve spring failures in the field to be reduced to < 0.1 ppm. The development and market launch of new grades has been prepared. (orig.)

Spontaneous and mutagen-induced deletions: mechanistic studies in Salmonella tester strain TA102

International Nuclear Information System (INIS)

Levin, D.E.; Marnett, L.J.; Ames, B.N.

1984-01-01

Salmonella tester strain TA102 carries the hisG428 ochre mutation on the multicopy plasmid pAQ1. DNA sequence analysis of 45 spontaneous revertants of hisG428 on the chromosome in the presence of pKM101 (strain TA103) indicates that hisG428 revertants fall into three major categories: (i) small, in-frame deletions (3 or 6 base pairs) that remove part or all of the ochre triplet; (ii) base substitution mutations at the ochre site; (iii) extragenic ochre suppressors. Deletion revertants are identified in a simple phenotypic screen by their resistance to the inhibitory histidine analog thiazolealanine, which feedback inhibits the wild-type hisG enzyme but not the enzyme resulting from the deletions. The effect of various genetic backgrounds on the generation of spontaneous deletion revertants was examined. The presence of a uvrB mutation or a recA mutation suppressed the generation of spontaneous deletion revertants to approximately 1/2.5. When hisG428 was in multiple copies on pAQ1, the frequency of spontaneous deletion revertants increased by 40-fold, which is the approximate copy number of pAQ1. Mutagenic agents that induce single-strand breaks in DNA (e.g., x-rays, bleomycin, and nalidixic acid) induced deletion revertants in TA102. These agents induced deletion revertants only in hisG428 on pAQ1 and only in the presence of pKM101. Deletion revertants were not induced by frameshift mutagens (i.e., ICR-191 and 9aminoacridine). These results indicate that different pathways exist for the generation of spontaneous and mutagen-induced deletion revertants of hisG428. 41 references, 2 figures, 3 tables

Characteristics Analysis and Testing of SMA Spring Actuator

Directory of Open Access Journals (Sweden)

Jianzuo Ma

2013-01-01

Full Text Available The biasing form two-way shape memory alloy (SMA actuator composed of SMA spring and steel spring is analyzed. Based on the force equilibrium equation, the relationship between load capacity of SMA spring and geometric parameters is established. In order to obtain the characteristics of SMA spring actuator, the output force and output displacement of SMA spring under different temperatures are analyzed by the theoretical model and the experimental method. Based on the shape memory effect of SMA, the relationship of the SMA spring actuator's output displacement with the temperature, the stress and strain, the material parameters, and the size parameters is established. The results indicate that the trend of theoretical results is basically consistent with the experimental data. The output displacement of SMA spring actuator is increased with the increasing temperature.

Deletions of the hypervariable region (HVR) in open reading frame 1 of hepatitis E virus do not abolish virus infectivity: evidence for attenuation of HVR deletion mutants in vivo.

Science.gov (United States)

Pudupakam, R S; Huang, Y W; Opriessnig, T; Halbur, P G; Pierson, F W; Meng, X J

2009-01-01

Hepatitis E virus (HEV) is an important human pathogen, although little is known about its biology and replication. Comparative sequence analysis revealed a hypervariable region (HVR) with extensive sequence variations in open reading frame 1 of HEV. To elucidate the role of the HVR in HEV replication, we first constructed two HVR deletion mutants, hHVRd1 and hHVRd2, with in-frame deletion of amino acids (aa) 711 to 777 and 747 to 761 in the HVR of a genotype 1 human HEV replicon. Evidence of HEV replication was detected in Huh7 cells transfected with RNA transcripts from mutant hHVRd2, as evidenced by expression of enhanced green fluorescent protein. To confirm the in vitro results, we constructed three avian HEV mutants with various HVR deletions: mutants aHVRd1, with deletion of aa 557 to 585 (Delta557-585); aHVRd2 (Delta612-641); and aHVRd3 (Delta557-641). Chickens intrahepatically inoculated with capped RNA transcripts from mutants aHVRd1 and aHVRd2 developed active viral infection, as evidenced by seroconversion, viremia, and fecal virus shedding, although mutant aHVRd3, with complete HVR deletion, was apparently attenuated in chickens. To further verify the results, we constructed four additional HVR deletion mutants using the genotype 3 swine HEV as the backbone. Mutants sHVRd2 (Delta722-781), sHVRd3 (Delta735-765), and sHVRd4 (Delta712-765) were shown to tolerate deletions and were infectious in pigs intrahepatically inoculated with capped RNA transcripts from the mutants, whereas mutant sHVRd1 (Delta712-790), with a nearly complete HVR deletion, exhibited an attenuation phenotype in infected pigs. The data from these studies indicate that deletions in HVR do not abolish HEV infectivity in vitro or in vivo, although evidence for attenuation was observed for HEV mutants with a larger or nearly complete HVR deletion.

An environment-mediated quantum deleter

International Nuclear Information System (INIS)

Srikanth, R.; Banerjee, Subhashish

2007-01-01

Environment-induced decoherence presents a great challenge to realizing a quantum computer. We point out the somewhat surprising fact that decoherence can be useful, indeed necessary, for practical quantum computation, in particular, for the effective erasure of quantum memory in order to initialize the state of the quantum computer. The essential point behind the deleter is that the environment, by means of a dissipative interaction, furnishes a contractive map towards a pure state. We present a specific example of an amplitude damping channel provided by a two-level system's interaction with its environment in the weak Born-Markov approximation. This is contrasted with a purely dephasing, non-dissipative channel provided by a two-level system's interaction with its environment by means of a quantum nondemolition interaction. We point out that currently used state preparation techniques, for example using optical pumping, essentially perform as quantum deleters

Haploid deletion strains of Saccharomyces cerevisiae that determine survival during space flight

Science.gov (United States)

Johanson, Kelly; Allen, Patricia L.; Gonzalez-Villalobos, Romer A.; Nesbit, Jacqueline; Nickerson, Cheryl A.; Höner zu Bentrup, Kerstin; Wilson, James W.; Ramamurthy, Rajee; D'Elia, Riccardo; Muse, Kenneth E.; Hammond, Jeffrey; Freeman, Jake; Stodieck, Louis S.; Hammond, Timothy G.

2007-02-01

This study identifies genes that determine survival during a space flight, using the model eukaryotic organism, Saccharomyces cerevisiae. Select strains of a haploid yeast deletion series grew during storage in distilled water in space, but not in ground based static or clinorotation controls. The survival advantages in space in distilled water include a 133-fold advantage for the deletion of PEX19, a chaperone and import receptor for newly- synthesized class I peroxisomal membrane proteins, to 77-40 fold for deletion strains lacking elements of aerobic respiration, isocitrate metabolism, and mitochondrial electron transport. Following automated addition of rich growth media, the space flight was associated with a marked survival advantage of strains with deletions in catalytically active genes including hydrolases, oxidoreductases and transferases. When compared to static controls, space flight was associated with a marked survival disadvantage of deletion strains lacking transporter, antioxidant and catalytic activity. This study identifies yeast deletion strains with a survival advantage during storage in distilled water and space flight, and amplifies our understanding of the genes critical for survival in space.

Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family

Energy Technology Data Exchange (ETDEWEB)

Hoop, R.C.; Schwartz, L.S.; Hoffman, E.P. [Univ. of Pittsburgh School of Medicine, Pittsburgh, PA (United States); Russo, L.S. [Univ. of Florida, Jacksonville, FL (United States); Riconda, D.L. [Orlando Regional Medical Center, Orlando, FL (United States)

1994-02-01

Two male cousins with Duchenne muscular dystrophy were found to have different maternal dystrophin gene haplotypes and different deletion mutations. One propositus showed two noncontiguous deletions-one in the 5{prime}, proximal deletional hotspot region, and the other in the 3{prime}, more distal deletional hotspot region. The second propositus showed only the 5{prime} deletion. Using multiple fluorescent exon dosage and fluorescent multiplex CA repeat linkage analyses, the authors show that the mother of each propositus carries both deletions on the same grandmaternal X chromosome. This paradox is explained by a single recombinational event between the 2 deleted regions of one of the carrier`s dystrophin genes, giving rise to a son with a partially {open_quotes}repaired{close_quotes} gene retaining only the 5{prime} deletion. 20 refs., 4 figs.

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

Science.gov (United States)

Irum, Bushra; Khan, Shahid Y; Ali, Muhammad; Daud, Muhammad; Kabir, Firoz; Rauf, Bushra; Fatima, Fareeha; Iqbal, Hira; Khan, Arif O; Al Obaisi, Saif; Naeem, Muhammad Asif; Nasir, Idrees A; Khan, Shaheen N; Husnain, Tayyab; Riazuddin, Sheikh; Akram, Javed; Eghrari, Allen O; Riazuddin, S Amer

2016-01-01

The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal and distal boundaries of the deletion mutation. Exclusion and linkage analysis suggested linkage to a region of chromosome 6p24 harboring GCNT2 (glucosaminyl (N-acetyl) transferase 2) with a two-point logarithm of odds score of 5.78. PCR amplifications of the coding exons of GCNT2 failed in individuals with arCC, and whole-exome data analysis revealed a large deletion on chromosome 6p in the region harboring GCNT2. Chromosomal walking using multiple primer pairs delineated the extent of the deletion to approximately 190 kb. Interestingly, a failure to amplify a junctional fragment of the deletion break strongly suggests an insertion in addition to the large deletion. Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.

Multigene deletions in lung adenocarcinomas from irradiated and control mice

International Nuclear Information System (INIS)

Zhang, Y.; Woloschak, G.E.

1996-01-01

K-ras codon 12 point mutations mRb and p53 gene deletions were examined in tissues from 120 normal lungs and lung adenocarcinomas that were Formalin-treated and paraffin-embedded 25 years ago. The results showed that 12 of 60 (20%) lung adenocarcinomas had mRb deletions. All lung adenocarcinomas that were initially found bearing deleted mRb had p53 deletions (15 of 15; 100%). A significantly higher mutation frequency for K-ras codon 12 point mutations was also found in the lung adenocarcinomas from mice exposed to 24 once-weekly neutron irradiation (10 of 10; 100%) compared with those exposed to 24 or 60 once-weekly γ-ray doses (5 of 10; 50%). The data suggested that p53 and K-ras gene alterations were two contributory factors responsible for the increased incidence of lung adenocarcinoma in B6CF 1 male mice exposed to protracted neutron radiation

Thermal springs of Malaysia and their potentialdevelopment

Science.gov (United States)

Rahim Samsudin, Abdul; Hamzah, Umar; Rahman, Rakmi Ab.; Siwar, Chamhuri; Fauzi Mohd. Jani, Mohd; Othman, Redzuan

The study on the potential development of hot springs for the tourism industry in Malaysiawas conducted. Out of the 40 hot springs covered, the study identified 9 hot springs having a high potential for development, 14 having medium potential and the remaining 17 having low or least potential for development. This conclusion was arrived at after considering the technical and economic feasibility of the various hot springs. Technical feasibility criteria includes geological factors, water quality, temperature and flow rate. The economic feasibility criteria considers measures such as accessibility, current and market potentials in terms of visitors, surrounding attractions and existing inventory and facilities available. A geological input indicates that high potential hot springs are located close to or within the granite body and associated with major permeable fault zones. They normally occur at low elevation adjacent to topographic highs. High potential hot springs are also characterised by high water temperature, substantial flowrate and very good water quality which is important for water-body contact activities such as soaking. Economic criteria for high potential hot springs are associated with good accessibility, good market, good surrounding attractions like rural and village setting and well developed facilities and infrastructures.

Derivation of NEM2 affected human embryonic stem cell line Genea079

Directory of Open Access Journals (Sweden)

Biljana Dumevska

2016-03-01

Full Text Available The Genea079 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying compound heterozygous mutations in the NEB gene, exon 55 deletion & c.15110dupA, indicative of Nemaline Myopathy Type 2 (NEM2. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XY and STR analysis demonstrated a male Allele pattern. The hESC line had pluripotent cell morphology, 86% of cells expressed Nanog, 95% Oct4, 54% Tra1-60 and 98% SSEA4 and gave a PluriTest Pluripotency score of 30.25, Novelty of 1.21. The cell line was negative for Mycoplasma and visible contamination.

Genomic Prediction of Seed Quality Traits Using Advanced Barley Breeding Lines

Science.gov (United States)

Nielsen, Nanna Hellum; Jahoor, Ahmed; Jensen, Jens Due; Orabi, Jihad; Cericola, Fabio; Edriss, Vahid; Jensen, Just

2016-01-01

Genomic selection was recently introduced in plant breeding. The objective of this study was to develop genomic prediction for important seed quality parameters in spring barley. The aim was to predict breeding values without expensive phenotyping of large sets of lines. A total number of 309 advanced spring barley lines tested at two locations each with three replicates were phenotyped and each line was genotyped by Illumina iSelect 9Kbarley chip. The population originated from two different breeding sets, which were phenotyped in two different years. Phenotypic measurements considered were: seed size, protein content, protein yield, test weight and ergosterol content. A leave-one-out cross-validation strategy revealed high prediction accuracies ranging between 0.40 and 0.83. Prediction across breeding sets resulted in reduced accuracies compared to the leave-one-out strategy. Furthermore, predicting across full and half-sib-families resulted in reduced prediction accuracies. Additionally, predictions were performed using reduced marker sets and reduced training population sets. In conclusion, using less than 200 lines in the training set can result in low prediction accuracy, and the accuracy will then be highly dependent on the family structure of the selected training set. However, the results also indicate that relatively small training sets (200 lines) are sufficient for genomic prediction in commercial barley breeding. In addition, our results indicate a minimum marker set of 1,000 to decrease the risk of low prediction accuracy for some traits or some families. PMID:27783639

Genomic Prediction of Seed Quality Traits Using Advanced Barley Breeding Lines.

Directory of Open Access Journals (Sweden)

Nanna Hellum Nielsen

Full Text Available Genomic selection was recently introduced in plant breeding. The objective of this study was to develop genomic prediction for important seed quality parameters in spring barley. The aim was to predict breeding values without expensive phenotyping of large sets of lines. A total number of 309 advanced spring barley lines tested at two locations each with three replicates were phenotyped and each line was genotyped by Illumina iSelect 9Kbarley chip. The population originated from two different breeding sets, which were phenotyped in two different years. Phenotypic measurements considered were: seed size, protein content, protein yield, test weight and ergosterol content. A leave-one-out cross-validation strategy revealed high prediction accuracies ranging between 0.40 and 0.83. Prediction across breeding sets resulted in reduced accuracies compared to the leave-one-out strategy. Furthermore, predicting across full and half-sib-families resulted in reduced prediction accuracies. Additionally, predictions were performed using reduced marker sets and reduced training population sets. In conclusion, using less than 200 lines in the training set can result in low prediction accuracy, and the accuracy will then be highly dependent on the family structure of the selected training set. However, the results also indicate that relatively small training sets (200 lines are sufficient for genomic prediction in commercial barley breeding. In addition, our results indicate a minimum marker set of 1,000 to decrease the risk of low prediction accuracy for some traits or some families.

Spring harvest of corn stover

Energy Technology Data Exchange (ETDEWEB)

Lizotte, P.L. [Laval Univ., Quebec City, PQ (Canada). Dept. des sols et de genie agroalimentaire; Savoie, P. [Agriculture and Agri-Food Canada, Quebec City, PQ (Canada)

2010-07-01

Corn stover is typically left behind in the field after grain harvest. Although part of the stover should remain in the field for soil organic matter renewal and erosion protection, half of the stover could be removed sustainably. This represents about one million t dry matter (DM) of stover per year in the province of Quebec. Stover harvested in the fall is very wet. While there are applications for wet stover, the available markets currently require a dry product. Preliminary measurements have shown that stover left in the field throughout the winter becomes very dry, and a considerable amount would still be harvestable in the spring. In the spring of 2009, corn stover was harvested at 2 sites, each subdivided into 2 parcels. The first parcel was cut and raked in the fall of 2008 (fall parcel), while the second parcel was cut and raked in spring 2009. Fibre from both parcels was baled in the spring 2009. At the first site, a large square baler was used in late April to produce bales measuring 0.8 m x 0.9 m x 1.8 m. On the second site a round baler was used in late May to produce bales of 1.2 m in width by 1.45 m in diameter. On the second site, a small square baler was also used to produce bales of 0.35 m x 0.45 m x 0.60 m (spring cutting only). With the large square baler, an average of 3.9 t DM/ha was harvested equally on the fall parcel and the spring parcel, representing a 48 per cent recovery of biomass based on stover yields.

Chemical and isotopic investigation of warm springs associated with normal faults in Utah

Science.gov (United States)

Cole, David R.

1983-04-01

dissolution of silicates such as feldspars and micas by CO 2-enriched groundwaters that become more reactive with increasing temperature and/or time. Solution compositions plotted on mineral equilibrium diagrams trend from product phases such as kaolinite or montmorillonite toward reactant phases dominated by alkali feldspars. Isotopic compositions indicate that these springs are of local surface origin, either meteoric (low TDS, 5000 mg/ l). Deviations from the meteoric water line are the result of rock-water isotopic exchange, mixing or evaporation. Fluid source regions and residence times of selected thermal spring systems (Red Hill, Thermo) have been evaluated through the use of a σ D-contour map of central and western Utah. Ages for waters in these areas range from about 13 years to over 500 years. These estimates are comparable to those made for low-temperature hydrothermal systems in Iceland.

Exploration of methods to localize DNA sequences missing from c-locus deletions

International Nuclear Information System (INIS)

Albritton, L.M.; Russell, L.B.; Montgomery, C.S.

1987-01-01

The authors have earlier characterized a large number of radiation-induced mutations at the c locus (on Chromosome 7) through genetic analysis, including extensive complementation tests. Based on this work, they have postulated that many of these mutations are deletions of various lengths, overlapping at c (the marker used in the mutation-rate experiments that generated the mutants). It was possible to apportion these deletions among 13 complementation groups and to fit them to a linear map of 8 functional units. Collectively, the deletions extend from a point between tp and c to one between sh-1 and Hbb, i.e., a genetic distance of from 6 to 10 cM, corresponding to at least 10 4 Kb of DNA. This year, the authors completed a pilot study designed to explore methods for finding DNA sequences that map to the region covered by the various c-deletions. The general plan was to probe DNA with clones derived from Chromosome-7-enriched libraries or with sequences known (or suspected) to reside in Chromosome 7. Three methods were explored for deriving the c-region-deficient DNA: (a) from mouse-hamster somatic-cell hydrids retaining a deleted mouse Chromosome 7, but no homologue; (b) from F 1 hybrids of M. musculus domesticus (carrying a c-locus deletion) by M. spretus; and (c) from F 1 hybrids of M. domesticus stocks carrying complementing deletions

Analysis of human HPRT- deletion mutants by the microarray-CGH (comparative genomic hybridization)

International Nuclear Information System (INIS)

Kodaira, M.; Sasaki, K.; Tagawa, H.; Omine, H.; Kushiro, J.; Takahashi, N.; Katayama, H.

2003-01-01

We are trying to evaluate genetic effects of radiation on human using mutation frequency as an indicator. For the efficient detection of mutations, it is important to understand the mechanism and the characteristics of radiation-induced mutations. We have started the analysis of hypoxanthine-guanine phosphoribosyl transferase (HPRT) mutants induced by X-ray in order to clarify the deletion size and the mutation-distribution. We analyzed 39 human X-ray induced HPRT-deletion mutants by using the microarray-CGH. The array for this analysis contains 57 BAC clones covering as much as possible of the 4Mb of the 5' side and 10Mb of the 3' side of the HPRT gene based on the NCBI genome database. DNA from parent strain and each HPRT-mutant strain are labeled with Cy5 and Cy3 respectively, and were mixed and hybridized on the array. Fluorescent intensity ratio of the obtained spots was analyzed using software we developed to identify clones corresponding to the deletion region. The deletion in these strains ranged up to 3.5 Mb on the 5' side and 6 Mb on the 3' side of the HPRT gene. Deletions in 13 strains ended around BAC clones located at about 3 Mb on the 5' side. On the 3' side, deletions extended up to the specific clones located at 1.5 Mb in 11 strains. The mutations seem to be complex on the 3' end of deletion; some accompanied duplications with deletions and others could not be explained by one mutation event. We need to confirm these results, taking into account the experimental reproducibility and the accuracy of the published genetic map. The results of the research using the microarray-CGH help us to search the regions where deletions are easily induced and to identify the factors affecting the range of deletions

Deletions induced by gamma rays in the genome of Escherichia coli

International Nuclear Information System (INIS)

Raha, Manidipa; Hutchinson, Franklin

1991-01-01

An Escherichia coli lysogen was constructed with a lambda phage bearing a lacZ gene surrounded by about 100 x 10 3 base-pairs of dispensable DNA. The lacZ mutants induced by gamma rays in this lysogen were more than 10% large deletions, ranging in size from 0.6 x 10 -3 to 70 x 10 3 base-pairs. These deletions were centered, not on lacZ, but on a ColE1 origin of DNA replication located 1.2 x 10 3 bases downstream from lacZ, suggesting that this origin of replication was involved in the process by which deletions were formed. In agreement with this hypothesis, a lysogen of the same phage without the ColE1 origin showed a very much lower percentage of radiation-induced deletions, as did a second lysogen of a lambda phage without any known plasmid origin of replication. Indirect evidence is presented for radiation-induced deletions centered on the lambda origin of DNA replication in a lysogen. (author)

The Begg's uprighting spring - Revisited.

Science.gov (United States)

Kumar, Vinay; Sundareswaran, Shobha

2015-01-01

Uprighting springs, an integral part of the Begg ligsht wire differential force technique is gaining more and more popularity, as a useful adjunct in contemporary preadjusted edgewise appliance systems as well. It can be used with brackets containing vertical slots for mesiodistal crown uprighting, or as braking auxiliaries providing additional anchorage while protracting posteriors. Here, we present a simple and quick chair side method of fabricating and customizing uprighting springs according to the required crown/root movement for correction. This communication would serve as a ready reckoner during fabrication of the springs, thus dispelling the confusion that usually arises regarding direction and position of the coil and active arm.

Construction of a psb C deletion strain in Synechocystis 6803.

Science.gov (United States)

Goldfarb, N; Knoepfle, N; Putnam-Evans, C

1997-01-01

Synechocystis 6803 is a cyanobacterium that carries out-oxygenic photosynthesis. We are interested in the introduction of mutations in the large extrinsic loop region of the CP43 protein of Photosystem II (PSII). CP43 appears to be required for the stable assembly of the PSII complex and also appears to play a role in photosynthetic oxygen evolution. Deletion of short segments of the large extrinsic loop results in mutants incapable of evolving oxygen. Alterations in psbC, the gene encoding CP43, are introduced into Synechocystis 6803 by transformation and homologous recombination. Specifically, plasmid constructs bearing the site-directed mutations are introduced into a deletion strain where the portion of the gene encoding the area of mutation has been deleted and replaced by a gene conferring antibiotic resistance. We have constructed a deletion strain of Synechocystis appropriate for the introduction of mutations in the large extrinsic loop of CP43 and have used it successfully to produce site-directed mutants.

Nickel titanium springs versus stainless steel springs: A randomized clinical trial of two methods of space closure.

Science.gov (United States)

Norman, Noraina Hafizan; Worthington, Helen; Chadwick, Stephen Mark

2016-09-01

To compare the clinical performance of nickel titanium (NiTi) versus stainless steel (SS) springs during orthodontic space closure. Two-centre parallel group randomized clinical trial. Orthodontic Department University of Manchester Dental Hospital and Orthodontic Department Countess of Chester Hospital, United Kingdom. Forty orthodontic patients requiring fixed appliance treatment were enrolled, each being randomly allocated into either NiTi (n = 19) or SS groups (n = 21). Study models were constructed at the start of the space closure phase (T0) and following the completion of space closure (T1). The rate of space closure achieved for each patient was calculated by taking an average measurement from the tip of the canine to the mesiobuccal groove on the first permanent molar of each quadrant. The study was terminated early due to time constraints. Only 30 patients completed, 15 in each study group. There was no statistically significant difference between the amounts of space closed (mean difference 0.17 mm (95%CI -0.99 to 1.34; P = 0.76)). The mean rate of space closure for NiTi coil springs was 0.58 mm/4 weeks (SD 0.24) and 0.85 mm/4 weeks (SD 0.36) for the stainless steel springs. There was a statistically significant difference between the two groups (P = 0.024), in favour of the stainless steel springs, when the mean values per patient were compared. Our study shows that stainless steel springs are clinically effective; these springs produce as much space closure as their more expensive rivals, the NiTi springs.

The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients

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Devilee Peter

2009-04-01

Full Text Available Abstract Background Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. These three genes encode subunits of succinate dehydrogenase (SDH, the mitochondrial tricarboxylic acid cycle enzyme and complex II component of the electron transport chain. The majority of variants of the SDH genes are missense and nonsense mutations. To date few large deletions of the SDH genes have been described. Methods We carried out gene deletion scanning using MLPA in 126 patients negative for point mutations in the SDH genes. We then proceeded to the molecular characterization of deletions, mapping breakpoints in each patient and used haplotype analysis to determine whether the deletions are due to a mutation hotspot or if a common haplotype indicated a single founder mutation. Results A novel deletion of exon 3 of the SDHB gene was identified in nine apparently unrelated Dutch patients. An identical 7905 bp deletion, c.201-4429_287-933del, was found in all patients, resulting in a frameshift and a predicted truncated protein, p.Cys68HisfsX21. Haplotype analysis demonstrated a common haplotype at the SDHB locus. Index patients presented with pheochromocytoma, extra-adrenal PGL and HN-PGL. A lack of family history was seen in seven of the nine cases. Conclusion The identical exon 3 deletions and common haplotype in nine patients indicates that this mutation is the first Dutch SDHB founder mutation. The predominantly non-familial presentation of these patients strongly suggests reduced penetrance. In this small series HN-PGL occurs as frequently as pheochromocytoma and extra-adrenal PGL.

Natural regeneration on seismic lines influences movement behaviour of wolves and grizzly bears.

Science.gov (United States)

Finnegan, Laura; Pigeon, Karine E; Cranston, Jerome; Hebblewhite, Mark; Musiani, Marco; Neufeld, Lalenia; Schmiegelow, Fiona; Duval, Julie; Stenhouse, Gordon B

2018-01-01

Across the boreal forest of Canada, habitat disturbance is the ultimate cause of caribou (Rangifer tarandus caribou) declines. Habitat restoration is a focus of caribou recovery efforts, with a goal to finding ways to reduce predator use of disturbances, and caribou-predator encounters. One of the most pervasive disturbances within caribou ranges in Alberta, Canada are seismic lines cleared for energy exploration. Seismic lines facilitate predator movement, and although vegetation on some seismic lines is regenerating, it remains unknown whether vegetation regrowth is sufficient to alter predator response. We used Light Detection and Ranging (LiDAR) data, and GPS locations, to understand how vegetation and other attributes of seismic lines influence movements of two predators, wolves (Canis lupus) and grizzly bears (Ursus arctos). During winter, wolves moved towards seismic lines regardless of vegetation height, while during spring wolves moved towards seismic lines with higher vegetation. During summer, wolves moved towards seismic lines with lower vegetation and also moved faster near seismic lines with vegetation grizzly bears during spring and summer, but there was no relationship between vegetation height and grizzly bear movement rates. These results suggest that wolves use seismic lines for travel during summer, but during winter wolf movements relative to seismic lines could be influenced by factors additional to movement efficiency; potentially enhanced access to areas frequented by ungulate prey. Grizzly bears may be using seismic lines for movement, but could also be using seismic lines as a source of vegetative food or ungulate prey. To reduce wolf movement rate, restoration could focus on seismic lines with vegetation <1 m in height. However our results revealed that seismic lines continue to influence wolf movement behaviour decades after they were built, and even at later stages of regeneration. Therefore it remains unknown at what stage of natural

Experimenting with Inexpensive Plastic Springs

Science.gov (United States)

Perez, Leander; Marques, Adriana; Sánchez, Iván

2014-01-01

Acommon undergraduate laboratory experience is the determination of the elastic constant of a spring, whether studying the elongation under a static load or studying the damped harmonic motion of the spring with a suspended mass. An alternative approach to this laboratory experience has been suggested by Menezes et al., aimed at studying the…

PCR detection of retinoblastoma gene deletions in radiation-induced mouse lung adenocarcinomas

International Nuclear Information System (INIS)

Churchill, M.E.; Gemmell, M.A.; Woloschak, G.E.

1994-01-01

From 1971--1986, Argonne National Laboratory conducted a series of large-scale studies of tumor incidence in 40,000 BCF 1 mice irradiated with 60 Co γ-rays or JANUS fission-spectrum neutrons. Polymerase chain reaction (PCR) technique was used to detect deletions in the mouse retinoblastoma (mRb) gene. Six mRb gene exon fragments were amplified in a 40-cycle, 3-temperature PCR protocol. Absence of any of these fragments on a Southern blot indicated a deletion of that portion of the mRb gene. Tumors chosen for analysis were lung adenocarcinomas that were judged to be the cause of death in post-mortem analyses. Spontaneous tumors as well as those from irradiated mice were analyzed for mRb deletions. In all normal mouse tissues studies all six mRb exon fragments were present on Southern blots. Tumors in six neutron-irradiated mice also had no mRb deletions. However, 1 of 6 tumors from γ-irradiated mice and 6 of 18 spontaneous tumors from unirradiated mice showed a deletion in one or both mRb alleles. All deletions detected were in the 5' region of the mRb gene

Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia.

Science.gov (United States)

Dron, Jacqueline S; Wang, Jian; Berberich, Amanda J; Iacocca, Michael A; Cao, Henian; Yang, Ping; Knoll, Joan; Tremblay, Karine; Brisson, Diane; Netzer, Christian; Gouni-Berthold, Ioanna; Gaudet, Daniel; Hegele, Robert A

2018-06-04

Copy-number variations (CNVs) have been studied in the context of familial hypercholesterolemia but have not yet been evaluated in patients with extremes of high-density lipoprotein (HDL) cholesterol levels. We evaluated targeted next-generation sequencing data from patients with very low HDL cholesterol (i.e. hypoalphalipoproteinemia) using the VarSeq-CNV caller algorithm to screen for CNVs disrupting the ABCA1, LCAT or APOA1 genes. In four individuals, we found three unique deletions in ABCA1: a heterozygous deletion of exon 4, a heterozygous deletion spanning exons 8 to 31, and a heterozygous deletion of the entire ABCA1 gene. Breakpoints were identified using Sanger sequencing, and the full-gene deletion was also confirmed using exome sequencing and the Affymetrix CytoScanTM HD Array. Before now, large-scale deletions in candidate HDL genes have not been associated with hypoalphalipoproteinemia; our findings indicate that CNVs in ABCA1 may be a previously unappreciated genetic determinant of low HDL cholesterol levels. By coupling bioinformatic analyses with next-generation sequencing data, we can successfully assess the spectrum of genetic determinants of many dyslipidemias, now including hypoalphalipoproteinemia. Published under license by The American Society for Biochemistry and Molecular Biology, Inc.

Comparison of gas spring designs with adjustable spring characteristic for a free-piston engine; Vergleich von Gasfedervarianten mit variabler Kennlinie fuer einen Freikolbenmotor

Energy Technology Data Exchange (ETDEWEB)

Pohl, S.E.; Ferrari, C. [Deutsches Zentrum fuer Luft- und Raumfahrt (DLR), Stuttgart (Germany). Inst. fuer Fahrzeugkonzepte

2007-12-15

In this paper two different gas spring designs for a free-piston application are introduced. On the basis of thermodynamic calculations the spring characteristics of a mass-variable and a volume-variable gas spring are analyzed for different operating points. A comparison of the spring performances indicates that the spring characteristics of the two designs only match at one operation point. Therefore, a calculation method minimizing the difference between the two spring characteristics over the entire operating range of a free piston engine is introduced. The theoretical examination is confirmed by measurements on a gas spring test stand. (orig.)

Recurrence and Variability of Germline EPCAM Deletions in Lynch Syndrome

NARCIS (Netherlands)

Kuiper, Roland P.; Vissers, Lisenka E. L. M.; Venkatachalam, Ramprasath; Bodmer, Danielle; Hoenselaar, Eveline; Goossens, Monique; Haufe, Aline; Kamping, Eveline; Niessen, Renee C.; Hogervorst, Frans B. L.; Gille, Johan J. P.; Redeker, Bert; Tops, Carli M. J.; van Gijn, Marielle E.; van den Ouweland, Ans M. W.; Rahner, Nils; Steinke, Verena; Kahl, Philip; Holinski-Feder, Elke; Morak, Monika; Kloor, Matthias; Stemmler, Susanne; Betz, Beate; Hutter, Pierre; Bunyan, David J.; Syngal, Sapna; Culver, Julie O.; Graham, Tracy; Chan, Tsun L.; Nagtegaal, Iris D.; van Krieken, J. Han J. M.; Schackert, Hans K.; Hoogerbrugge, Nicoline; van Kessel, Ad Geurts; Ligtenberg, Marjolijn J. L.

Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele-specific epigenetic silencing of the neighboring DNA mismatch repair gene MSH2 in tissues expressing EPCAM. Here we screened a cohort of unexplained Lynch-like

Dissolved oxygen fluctuations in karst spring flow and implications for endemic species: Barton Springs, Edwards aquifer, Texas, USA

Science.gov (United States)

Mahler, Barbara J.; Bourgeais, Renan

2013-01-01

Karst aquifers and springs provide the dissolved oxygen critical for survival of endemic stygophiles worldwide, but little is known about fluctuations of dissolved oxygen concentrations (DO) and factors that control those concentrations. We investigated temporal variation in DO at Barton Springs, Austin, Texas, USA. During 2006–2012, DO fluctuated by as much as a factor of 2, and at some periods decreased to concentrations that adversely affect the Barton Springs salamander (Eurycea sorosum) (≤4.4 mg/L), a federally listed endangered species endemic to Barton Springs. DO was lowest (≤4.4 mg/L) when discharge was low (≤1 m3/s) and spring water temperature was >21 °C, although not at a maximum; the minimum DO recorded was 4.0 mg/L. Relatively low DO (3/s) and maximum T (22.2 °C). A four-segment linear regression model with daily data for discharge and spring water temperature as explanatory variables provided an excellent fit for mean daily DO (Nash–Sutcliffe coefficient for the validation period of 0.90). DO also fluctuated at short-term timescales in response to storms, and DO measured at 15-min intervals could be simulated with a combination of discharge, spring temperature, and specific conductance as explanatory variables. On the basis of the daily-data regression model, we hypothesize that more frequent low DO corresponding to salamander mortality could result from (i) lower discharge from Barton Springs resulting from increased groundwater withdrawals or decreased recharge as a result of climate change, and (or) (ii) higher groundwater temperature as a result of climate change.

Geochemical and isotopic characteristics of spring and groundwater in the State of São Paulo, Brazil

Science.gov (United States)

Szikszay, M.; Teissedre, J.-M.; Barner, U.; Matsui, E.

1981-12-01

A study of spring water shows that a correlation exists between the physical and chemical characteristics of the water and the lithology from where it issues. Water from crystalline rock can be classified as Ca/1bMg-bicarbonate, with low conductivity and temperature; water from sediments and/or weathered crystalline rock as Ca/1bMg-chloride—sulfate; and from volcanic rock, diabase and basalt as Na-bicarbonate water. Monthly samples of eight springs and of rain water in the region of Águas da Prata were analyzed for the deuterium and 18O isotopic contents expressed as δD and δ18O in order to determine the origin of these waters. The coincidence of the isotopic values of spring water with the regional meteoric line indicates a local source of recharge. Chemical anomalies of groundwater in the shallow Bauru and Basalto aquifers in the Paraná Basin are probably caused by ascending water from the confined deep Botucatu—Piramboia aquifer through fracture and fault zones.

Impaired spermatogenesis and gr/gr deletions related to Y chromosome haplogroups in Korean men.

Directory of Open Access Journals (Sweden)

Jin Choi

Full Text Available Microdeletion of the Azoospermia Factor (AZF regions in Y chromosome is a well-known genetic cause of male infertility resulting from spermatogenetic impairment. However, the partial deletions of AZFc region related to spermatogenetic impairment are controversial. In this study, we characterized partial deletion of AZFc region in Korean patients with spermatogenetic impairment and assessed whether the DAZ and CDY1 contributes to the phenotype in patients with gr/gr deletions. Total of 377 patients with azoo-/oligozoospermia and 217 controls were analyzed using multiplex polymerase chain reaction (PCR, analysis of DAZ-CDY1 sequence family variants (SFVs, and quantitative fluorescent (QF-PCR. Of the 377 men with impaired spermatogenesis, 59 cases (15.6% had partial AZFc deletions, including 32 gr/gr (8.5%, 22 b2/b3 (5.8%, four b1/b3 (1.1% and one b3/b4 (0.3% deletion. In comparison, 14 of 217 normozoospermic controls (6.5% had partial AZFc deletions, including five gr/gr (2.3% and nine b2/b3 (4.1% deletions. The frequency of gr/gr deletions was significantly higher in the azoo-/oligozoospermic group than in the normozoospermic control group (p = 0.003; OR = 3.933; 95% CI = 1.509-10.250. Concerning Y haplogroup, we observed no significant differences in the frequency of gr/gr deletions between the case and the control groups in the YAP+ lineages, while gr/gr deletion were significantly higher in azoo-/oligozoospermia than normozoospermia in the YAP- lineage (p = 0.004; OR = 6.341; 95% CI = 1.472-27.312. Our data suggested that gr/gr deletion is associated with impaired spermatogenesis in Koreans with YAP- lineage, regardless of the gr/gr subtypes.

Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder

Science.gov (United States)

Günes, Serkan; Ekinci, Özalp; Ekinci, Nuran; Toros, Fevziye

2017-01-01

Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.

Generating Bona Fide Mammalian Prions with Internal Deletions.

Science.gov (United States)

Munoz-Montesino, Carola; Sizun, Christina; Moudjou, Mohammed; Herzog, Laetitia; Reine, Fabienne; Chapuis, Jérôme; Ciric, Danica; Igel-Egalon, Angelique; Laude, Hubert; Béringue, Vincent; Rezaei, Human; Dron, Michel

2016-08-01

Mammalian prions are PrP proteins with altered structures causing transmissible fatal neurodegenerative diseases. They are self-perpetuating through formation of beta-sheet-rich assemblies that seed conformational change of cellular PrP. Pathological PrP usually forms an insoluble protease-resistant core exhibiting beta-sheet structures but no more alpha-helical content, loosing the three alpha-helices contained in the correctly folded PrP. The lack of a high-resolution prion structure makes it difficult to understand the dynamics of conversion and to identify elements of the protein involved in this process. To determine whether completeness of residues within the protease-resistant domain is required for prions, we performed serial deletions in the helix H2 C terminus of ovine PrP, since this region has previously shown some tolerance to sequence changes without preventing prion replication. Deletions of either four or five residues essentially preserved the overall PrP structure and mutant PrP expressed in RK13 cells were efficiently converted into bona fide prions upon challenge by three different prion strains. Remarkably, deletions in PrP facilitated the replication of two strains that otherwise do not replicate in this cellular context. Prions with internal deletion were self-propagating and de novo infectious for naive homologous and wild-type PrP-expressing cells. Moreover, they caused transmissible spongiform encephalopathies in mice, with similar biochemical signatures and neuropathologies other than the original strains. Prion convertibility and transfer of strain-specific information are thus preserved despite shortening of an alpha-helix in PrP and removal of residues within prions. These findings provide new insights into sequence/structure/infectivity relationship for prions. Prions are misfolded PrP proteins that convert the normal protein into a replicate of their own abnormal form. They are responsible for invariably fatal neurodegenerative

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.

Science.gov (United States)

Will, Olivia; Carvajal-Carmona, Luis G; Gorman, Patricia; Howarth, Kimberley M; Jones, Angela M; Polanco-Echeverry, Guadalupe M; Chinaleong, Jo-Anne; Günther, Thomas; Silver, Andrew; Clark, Susan K; Tomlinson, Ian

2007-02-01

We report a patient of Indian descent with parental consanguinity, who developed 10 carcinomas and 35 adenomatous polyps at age 23 and duodenal adenocarcinoma at age 25. He also had dysmorphic features, mental retardation, and café-au-lait spots but no brain tumor. We aimed to establish his molecular diagnosis. Germ-line screening for APC and MYH/MUTYH mutations was normal as was immunohistochemistry for MLH1 and MSH2 proteins. Investigation by array-comparative genomic hybridization revealed deletion of a small region on chromosome 7. Using polymerase chain reaction, this region was refined to a 400-kilobase deletion, which included exons 9-15 of the PMS2 gene, and all coding regions of oncomodulin, TRIAD3, and FSCN1. The deletion was confirmed as homozygous, and both parents were carriers. Immunohistochemistry showed absent PMS2 expression in all tumors and normal tissue. Most tumors showed microsatellite instability, more marked at dinucleotide than mononucleotide repeats. The tumors harbored no somatic mutations in APC, BRAF, AXIN2, or beta-catenin, but KRAS2 and TGFBR2 mutations were found. Our patient represents a novel phenotype for homozygous PMS2 mutation and perhaps the most severe colorectal cancer phenotype-in terms of numbers of malignancies at an early age-described to date. PMS2 mutations-and perhaps other homozygous mismatch repair mutations-should be considered in any patient presenting with multiple gastrointestinal tumors, since our patient could not be distinguished clinically from cases with attenuated familial adenomatous polyposis or MUTYH-associated polyposis.

Characterization of genetic deletions in Becker muscular dystrophy using monoclonal antibodies against a deletion-prone region of dystrophin

Energy Technology Data Exchange (ETDEWEB)

Thanh, L.T.; Man, Nguyen Thi; Morris, G.E. [Wales Institute, Clwyd (United Kingdom)] [and others

1995-08-28

We have produced a new panel of 20 monoclonal antibodies (mAbs) against a region of the dystrophin protein corresponding to a deletion-prone region of the Duchenne muscular dystrophy gene (exons 45-50). We show that immunohistochemistry or Western blotting with these {open_quotes}exon-specific{close_quotes} mAbs can provide a valuable addition to Southern blotting or PCR methods for the accurate identification of genetic deletions in Becker muscular dystrophy patients. The antibodies were mapped to the following exons: exon 45 (2 mAbs), exon 46 (6), exon 47 (1), exons 47/48 (4), exons 48-50 (6), and exon 50 (1). PCR amplification of single exons or groups of exons was used both to produce specific dystrophin immunogens and to map the mAbs obtained. PCR-mediated mutagenesis was also used to identify regions of dystrophin important for mAb binding. Because the mAbs can be used to characterize the dystrophin produced by individual muscle fibres, they will also be useful for studying {open_quotes}revertant{close_quotes} fibres in Duchenne muscle and for monitoring the results of myoblast therapy trials in MD patients with deletions in this region of the dystrophin gene. 27 refs., 7 figs., 3 tabs.

Introgression lines of Triticum aestivum x Aegilops tauschii: Agronomic and nutritional value

Science.gov (United States)

Eighty-five single homozygous substitution lines (SLs) of the Aegilops tauschii D genome in Chinese Spring (CS) hexaploid wheat (Triticum aestivum L.) genetic background were evaluated for agronomic, phenotypic and ionome profiles during three years of field experiments. An augmented design with a r...

Hydrochemical Characteristics of Springs in Oke–Igbo, Ondo State ...

African Journals Online (AJOL)

Michael Horsfall

each spring and analyzed for temperature, pH, electrical conductivity (EC), total dissolved solids (TDS), total ... Boiling of the spring water, is therefore, .... spring against sudden change in pH might also .... The altitude of the springs may have.

22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation

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ilknur Erol

2015-03-01

Full Text Available Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome. [Cukurova Med J 2015; 40(1.000: 169-173

Size unlimited markerless deletions by a transconjugative plasmid-system in Bacillus licheniformis.

Science.gov (United States)

Rachinger, Michael; Bauch, Melanie; Strittmatter, Axel; Bongaerts, Johannes; Evers, Stefan; Maurer, Karl-Heinz; Daniel, Rolf; Liebl, Wolfgang; Liesegang, Heiko; Ehrenreich, Armin

2013-09-20

Conjugative shuttle vectors of the pKVM series, based on an IncP transfer origin and the pMAD vector with a temperature sensitive replication were constructed to establish a markerless gene deletion protocol for Bacilli without natural competence such as the exoenzyme producer Bacillus licheniformis. The pKVM plasmids can be conjugated to strains of B. licheniformis and B. subtilis. For chromosomal gene deletion, regions flanking the target gene are fused and cloned in a pKVM vector prior to conjugative transfer from Escherichia coli to B. licheniformis. Appropriate markers on the vector backbone allow for the identification of the integration at the target locus and thereafter the vector excision, both events taking place via homologous recombination. The functionality of the deletion system was demonstrated with B. licheniformis by a markerless 939 bp in-frame deletion of the yqfD gene and the deletion of a 31 kbp genomic segment carrying a PBSX-like prophage. Copyright © 2013 Elsevier B.V. All rights reserved.

Multi-exon deletions of the FBN1 gene in Marfan syndrome

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Schrijver Iris

2001-10-01

Full Text Available Abstract Background Mutations in the fibrillin -1 gene (FBN1 cause Marfan syndrome (MFS, an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a genomic multi-exon deletion. Methods We used long-range RT-PCR for mutation detection and long-range genomic PCR and DNA sequencing for identification of deletion breakpoints, allele-specific transcript analyses to determine stability of the mutant RNA, and pulse-chase studies to quantitate fibrillin synthesis and extracellular matrix deposition in cultured fibroblasts. Southern blots of genomic DNA were probed with three overlapping fragments covering the FBN1 coding exons Results Two novel multi-exon FBN1 deletions were discovered. Identical nucleotide pentamers were found at or near the intronic breakpoints. In a Case with classic MFS, an in-frame deletion of exons 42 and 43 removed the C-terminal 24 amino acids of the 5th LTBP (8-cysteine domain and the adjacent 25th calcium-binding EGF-like (6-cysteine domain. The mutant mRNA was stable, but fibrillin synthesis and matrix deposition were significantly reduced. A Case with severe childhood-onset MFS has a de novo deletion of exons 44–46 that removed three EGF-like domains. Fibrillin protein synthesis was normal, but matrix deposition was strikingly reduced. No genomic rearrangements were detected by Southern analysis of 18 unrelated MFS samples negative for FBN1 mutation screening. Conclusions Two novel deletion cases expand knowledge of mutational mechanisms and genotype/phenotype correlations of fibrillinopathies. Deletions or mutations affecting an LTBP domain may result in unstable mutant protein cleavage products that interfere with microfibril assembly.

Association between F508 deletion in CFTR and chronic pancreatitis risk.

Science.gov (United States)

Zhao, Dong; Xu, Yanzhen; Li, Jiatong; Fu, Shien; Xiao, Feifan; Song, Xiaowei; Xie, Zhibin; Jiang, Min; He, Yan; Liu, Chengwu; Wen, Qiongxian; Yang, Xiaoli

2017-09-01

The cystic fibrosis transmembrane conductance regulator (CFTR) has been reported to influence individual susceptibility to chronic pancreatitis (CP), but the results of previous studies are controversial. We performed a study to demonstrate the relationship between CFTR and CP. We searched PubMed, Scopus, and Embase for studies of patients with CP. Seven studies from 1995 to 2016 were identified, and included 64,832 patients. Pooled prevalence and 95% confidence intervals (CIs) were calculated. F508 deletion in CFTR was significantly positively associated with CP risk in the overall analysis (odds ratio [OR]=3.20, 95% CI: 2.30-4.44, I 2 =31.7%). In subgroup analysis stratified by ethnicity, F508 deletion was significantly associated with CP risk in Indian populations, using a fixed effects model (ORs=5.45, 95% CI: 2.52-11.79, I 2 =0.0%), and in non-Indian populations, using a random effects model (ORs=3.59, 95% CI: 1.73-7.48, I 2 =60.9%). At the same time, we found that Indians with F508 deletion had much higher CP prevalence than non-Indians. Interestingly, F508 deletion was also associated with CP and idiopathic CP risk in subgroup analysis stratified by aeitiology, using the fixed effects model. Based on current evidence, F508 deletion is a risk factor for CP, and Indians with F508 deletion have much higher CP morbidity. Copyright © 2017 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.

Linguistic and Psychomotor Development in Children with Chromosome 14 Deletions

Science.gov (United States)

Zampini, Laura; D'Odorico, Laura; Zanchi, Paola; Zollino, Marcella; Neri, Giovanni

2012-01-01

The present study focussed on a specific type of rare genetic condition: chromosome 14 deletions. Children with this genetic condition often show developmental delays and brain and neurological problems, although the type and severity of symptoms varies depending on the size and location of the deleted genetic material. The specific aim of the…

Osteocytes, not Osteoblasts or Lining Cells, are the Main Source of the RANKL Required for Osteoclast Formation in Remodeling Bone.

Directory of Open Access Journals (Sweden)

Jinhu Xiong

Full Text Available The cytokine receptor activator of nuclear factor kappa B ligand (RANKL, encoded by the Tnfsf11 gene, is essential for osteoclastogenesis and previous studies have shown that deletion of the Tnfsf11 gene using a Dmp1-Cre transgene reduces osteoclast formation in cancellous bone by more than 70%. However, the Dmp1-Cre transgene used in those studies leads to recombination in osteocytes, osteoblasts, and lining cells making it unclear whether one or more of these cell types produce the RANKL required for osteoclast formation in cancellous bone. Because osteoblasts, osteocytes, and lining cells have distinct locations and functions, distinguishing which of these cell types are sources of RANKL is essential for understanding the orchestration of bone remodeling. To distinguish between these possibilities, we have now created transgenic mice expressing the Cre recombinase under the control of regulatory elements of the Sost gene, which is expressed in osteocytes but not osteoblasts or lining cells in murine bone. Activity of the Sost-Cre transgene in osteocytes, but not osteoblast or lining cells, was confirmed by crossing Sost-Cre transgenic mice with tdTomato and R26R Cre-reporter mice, which express tdTomato fluorescent protein or LacZ, respectively, only in cells expressing the Cre recombinase or their descendants. Deletion of the Tnfsf11 gene in Sost-Cre mice led to a threefold decrease in osteoclast number in cancellous bone and increased cancellous bone mass, mimicking the skeletal phenotype of mice in which the Tnfsf11 gene was deleted using the Dmp1-Cre transgene. These results demonstrate that osteocytes, not osteoblasts or lining cells, are the main source of the RANKL required for osteoclast formation in remodeling cancellous bone.

Shallow groundwater investigations at Weldon Spring, Missouri

International Nuclear Information System (INIS)

1991-06-01

The Missouri Department of Natural Resources, Division of Geology and Land Survey (MDNR-DGLS) conducted investigations of the upper aquifer in the vicinity of the abandoned Weldon Spring Chemical Plant in southwest St. Charles County, Missouri. The objective of the investigation was to better define the relationships between precipitation, surface runoff, groundwater recharge and shallow groundwater discharge within the study area, thereby assisting the Department of Energy in designing an appropriate groundwater monitoring plan for the Weldon Spring Site Remedial Action Project. The results of the investigations indicate that the upper aquifer has been affected by karst development but that well developed karst does not exist on or around the site. Dye traces conducted during the study have shown that surface water which leaves the site enters the subsurface in losing streams around the site and travels rapidly to one or more local springs. Upper aquifer recharge areas, constructed from dye trace and potentiometric data, generally follow surface water drainage patterns on the south side of the site, but cross surface-water drainage divides north of the site. Nine springs may receive recharge from site runoff, depending upon the amount of runoff. In addition to these springs, one perennial spring and two intermittent springs to the southwest of the site may receive recharge from site infiltration. 25 refs., 13 figs

Sampling and analysis of 100 Area springs

International Nuclear Information System (INIS)

1992-02-01

This report is submitted in fulfillment of Hanford Federal Facility Agreement and Consent Order Milestone M-30-01, submit a report to EPA and Ecology evaluating the impact to the Columbia River from contaminated springs and seeps as described in the operable unit work plans listed in M-30-03. Springs, seeps, sediments, and the Columbia River were sampled for chemical and radiological analyses during the period September 16 through October 21, 1991. A total of 26 locations were sampled. Results of these analyses show that radiological and nonradiological contaminants continue to enter the Columbia River from the retired reactor areas of the 100 Area via the springs. The primary contaminants in the springs are strontium-90, tritium, and chromium. These contaminants were detected in concentrations above drinking water standards. Analysis of total organic carbon were run on all water samples collected; there is no conclusive evidence that organic constituents are entering the river through the springs. Total organic carbon analyses were generally higher for the surface water than for the springs. The results of this study will be used to develop a focused, yet flexible, long-term spring sampling program. Analysis of Columbia River water samples collected at the Hanford Townsite (i.e., downstream of the reactor areas) did not detect any Hanford-specific contaminants

Molecular and cytogenetic investigation of Y chromosome deletions over three generations facilitated by intracytoplasmic sperm injection.

Science.gov (United States)

Minor, Agata; Wong, Edgar Chan; Harmer, Karynn; Ma, Sai

2007-08-01

The azoospermic factor (AZF) region is critical for normal spermatogenesis since microdeletions and partial deletions have been associated with infertility. We investigate the diagnostic ability of karyotyping in detecting clinically relevant Y chromosome deletions. The clinical significance of heterochromatin deletions, microdeletions and partial AZFc deletions is also evaluated. A patient with a Yq deletion, affected by severe oligoasthenoteratozoospermia, underwent intracytoplasmic sperm injection (ICSI) which resulted in the birth of a healthy baby boy. The patient, his father and his son underwent Y chromosome microdeletion and partial AZFc deletion screening. We also studied the aneuploidy rate in the sperm of the patient by fluorescent in situ hybridization. AZF microdeletions were absent in the family. However, microdeletion analysis confirmed that the Yq deletion was limited to the heterochromatin. We found a partial AZFc gr/gr deletion in all three family members. We observed an increased rate of sex chromosome aneuploidy in the infertile patient. Cytogenetic analysis was misleading in identifying the Yq breakpoint. Infertility observed in the patient was associated with the gr/gr partial deletion. However, because of the incomplete penetrance of gr/gr deletions, the consequence of the vertical transmission of the deletion through ICSI remains unknown. Copyright (c) 2007 John Wiley & Sons, Ltd.

The generation of chromosomal deletions to provide extensive coverage and subdivision of the Drosophila melanogaster genome.

Science.gov (United States)

Cook, R Kimberley; Christensen, Stacey J; Deal, Jennifer A; Coburn, Rachel A; Deal, Megan E; Gresens, Jill M; Kaufman, Thomas C; Cook, Kevin R

2012-01-01

Chromosomal deletions are used extensively in Drosophila melanogaster genetics research. Deletion mapping is the primary method used for fine-scale gene localization. Effective and efficient deletion mapping requires both extensive genomic coverage and a high density of molecularly defined breakpoints across the genome. A large-scale resource development project at the Bloomington Drosophila Stock Center has improved the choice of deletions beyond that provided by previous projects. FLP-mediated recombination between FRT-bearing transposon insertions was used to generate deletions, because it is efficient and provides single-nucleotide resolution in planning deletion screens. The 793 deletions generated pushed coverage of the euchromatic genome to 98.4%. Gaps in coverage contain haplolethal and haplosterile genes, but the sizes of these gaps were minimized by flanking these genes as closely as possible with deletions. In improving coverage, a complete inventory of haplolethal and haplosterile genes was generated and extensive information on other haploinsufficient genes was compiled. To aid mapping experiments, a subset of deletions was organized into a Deficiency Kit to provide maximal coverage efficiently. To improve the resolution of deletion mapping, screens were planned to distribute deletion breakpoints evenly across the genome. The median chromosomal interval between breakpoints now contains only nine genes and 377 intervals contain only single genes. Drosophila melanogaster now has the most extensive genomic deletion coverage and breakpoint subdivision as well as the most comprehensive inventory of haploinsufficient genes of any multicellular organism. The improved selection of chromosomal deletion strains will be useful to nearly all Drosophila researchers.

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.

Science.gov (United States)

Gatta, Valentina; Palka, Chiara; Chiavaroli, Valentina; Franchi, Sara; Cannataro, Giovanni; Savastano, Massimo; Cotroneo, Antonio Raffaele; Chiarelli, Francesco; Mohn, Angelika; Stuppia, Liborio

2014-07-23

SHOX alterations have been reported in 67% of patients affected by Léri-Weill dyschondrosteosis (LWD), with a larger prevalence of gene deletions than point mutations. It has been recently demonstrated that these deletions can involve the SHOX enhancer region, rather that the coding region, with variable phenotype of the affected patients.Here, we report a SHOX gene analysis carried out by MLPA in 14 LWD patients from 4 families with variable phenotype. All patients presented a SHOX enhancer deletion. In particular, a patient with a severe bilateral Madelung deformity without short stature showed a homozygous alteration identical to the recently described 47.5 kb PAR1 deletion. Moreover, we identified, for the first time, in three related patients with a severe bilateral Madelung deformity, a smaller deletion than the 47.5 kb PAR1 deletion encompassing the same enhancer region (ECR1/CNE7). Data reported in this study provide new information about the spectrum of phenotypic alterations showed by LWD patients with different deletions of the SHOX enhancer region.

Integrated geophysical investigations of Main Barton Springs, Austin, Texas, USA

Science.gov (United States)

Saribudak, By Mustafa; Hauwert, Nico M.

2017-03-01

Barton Springs is a major discharge site for the Barton Springs Segment of the Edwards Aquifer and is located in Zilker Park, Austin, Texas. Barton Springs actually consists of at least four springs. The Main Barton Springs discharges into the Barton Springs pool from the Barton Springs fault and several outlets along a fault, from a cave, several fissures, and gravel-filled solution cavities on the floor of the pool west of the fault. Surface geophysical surveys [resistivity imaging, induced polarization (IP), self-potential (SP), seismic refraction, and ground penetrating radar (GPR)] were performed across the Barton Springs fault and at the vicinity of the Main Barton Springs in south Zilker Park. The purpose of the surveys was two-fold: 1) locate the precise location of submerged conduits (caves, voids) carrying flow to Main Barton Springs; and 2) characterize the geophysical signatures of the fault crossing Barton Springs pool. Geophysical results indicate significant anomalies to the south of the Barton Springs pool. A majority of these anomalies indicate a fault-like pattern, in front of the south entrance to the swimming pool. In addition, resistivity and SP results, in particular, suggest the presence of a large conduit in the southern part of Barton Springs pool. The groundwater flow-path to the Main Barton Springs could follow the locations of those resistivity and SP anomalies along the newly discovered fault, instead of along the Barton Springs fault, as previously thought.

Portrait of a Geothermal Spring, Hunter’s Hot Springs, Oregon

Directory of Open Access Journals (Sweden)

Richard W. Castenholz

2015-01-01

Full Text Available Although alkaline Hunter’s Hot Springs in southeastern Oregon has been studied extensively for over 40 years, most of these studies and the subsequent publications were before the advent of molecular methods. However, there are many field observations and laboratory experiments that reveal the major aspects of the phototrophic species composition within various physical and chemical gradients of these springs. Relatively constant temperature boundaries demark the upper boundary of the unicellular cyanobacterium, Synechococcus at 73–74 °C (the world-wide upper limit for photosynthesis, and 68–70 °C the upper limit for Chloroflexus. The upper limit for the cover of the filamentous cyanobacterium, Geitlerinema (Oscillatoria is at 54–55 °C, and the in situ lower limit at 47–48 °C for all three of these phototrophs due to the upper temperature limit for the grazing ostracod, Thermopsis. The in situ upper limit for the cyanobacteria Pleurocapsa and Calothrix is at ~47–48 °C, which are more grazer-resistant and grazer dependent. All of these demarcations are easily visible in the field. In addition, there is a biosulfide production in some sections of the springs that have a large impact on the microbiology. Most of the temperature and chemical limits have been explained by field and laboratory experiments.

Portrait of a Geothermal Spring, Hunter’s Hot Springs, Oregon

Science.gov (United States)

Castenholz, Richard W.

2015-01-01

Although alkaline Hunter’s Hot Springs in southeastern Oregon has been studied extensively for over 40 years, most of these studies and the subsequent publications were before the advent of molecular methods. However, there are many field observations and laboratory experiments that reveal the major aspects of the phototrophic species composition within various physical and chemical gradients of these springs. Relatively constant temperature boundaries demark the upper boundary of the unicellular cyanobacterium, Synechococcus at 73–74 °C (the world-wide upper limit for photosynthesis), and 68–70 °C the upper limit for Chloroflexus. The upper limit for the cover of the filamentous cyanobacterium, Geitlerinema (Oscillatoria) is at 54–55 °C, and the in situ lower limit at 47–48 °C for all three of these phototrophs due to the upper temperature limit for the grazing ostracod, Thermopsis. The in situ upper limit for the cyanobacteria Pleurocapsa and Calothrix is at ~47–48 °C, which are more grazer-resistant and grazer dependent. All of these demarcations are easily visible in the field. In addition, there is a biosulfide production in some sections of the springs that have a large impact on the microbiology. Most of the temperature and chemical limits have been explained by field and laboratory experiments. PMID:25633225

Establishment and conventional cytogenetic characterization of three gastric cancer cell lines.

Science.gov (United States)

Leal, Mariana Ferreira; Martins do Nascimento, José Luiz; da Silva, Carla Elvira Araújo; Vita Lamarão, Maria Fernanda; Calcagno, Danielle Queiroz; Khayat, André Salim; Assumpção, Paulo Pimentel; Cabral, Isabel Rosa; de Arruda Cardoso Smith, Marília; Burbano, Rommel Rodríguez

2009-11-01

Gastric cancer is the fourth most frequent type of cancer and the second most frequent cause of cancer mortality worldwide. Only a modest number of gastric carcinoma cell lines have been isolated thus far. Here we describe the establishment and cytogenetic characterization of three new gastric cancer cell lines obtained from primary gastric adenocarcinoma (ACP02 and ACP03) and cancerous ascitic fluid (AGP01) of individuals from northern Brazil. ACP02, ACP03, and AGP01 cell lines are presently in the 60th passage. The cell lines grew in a disorganized single layer with some agglomerations and heterogeneous divisions (bipolar and multipolar). All cell lines exhibited a composite karyotype with several clonal chromosome alterations. Trisomy 8 was the most frequent alteration. Chromosome 8 aneusomy was confirmed by fluorescence in situ hybridization. All cell lines also exhibited trisomy 7 and deletion of chromosome arm 17p. These results suggest that, although frequent chromosome alterations are commonly observed due to culture process, the ACP02, ACP03, and AGP01 cell lines and primary gastric cancer from individuals of northern Brazil share genetic alterations, supporting use of these cell lines as a model of gastric carcinogenesis in this population.

The detection of large deletions or duplications in genomic DNA.

Science.gov (United States)

Armour, J A L; Barton, D E; Cockburn, D J; Taylor, G R

2002-11-01

While methods for the detection of point mutations and small insertions or deletions in genomic DNA are well established, the detection of larger (>100 bp) genomic duplications or deletions can be more difficult. Most mutation scanning methods use PCR as a first step, but the subsequent analyses are usually qualitative rather than quantitative. Gene dosage methods based on PCR need to be quantitative (i.e., they should report molar quantities of starting material) or semi-quantitative (i.e., they should report gene dosage relative to an internal standard). Without some sort of quantitation, heterozygous deletions and duplications may be overlooked and therefore be under-ascertained. Gene dosage methods provide the additional benefit of reporting allele drop-out in the PCR. This could impact on SNP surveys, where large-scale genotyping may miss null alleles. Here we review recent developments in techniques for the detection of this type of mutation and compare their relative strengths and weaknesses. We emphasize that comprehensive mutation analysis should include scanning for large insertions and deletions and duplications. Copyright 2002 Wiley-Liss, Inc.

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

Science.gov (United States)

Heinzen, Erin L; Radtke, Rodney A; Urban, Thomas J; Cavalleri, Gianpiero L; Depondt, Chantal; Need, Anna C; Walley, Nicole M; Nicoletti, Paola; Ge, Dongliang; Catarino, Claudia B; Duncan, John S; Kasperaviciūte, Dalia; Tate, Sarah K; Caboclo, Luis O; Sander, Josemir W; Clayton, Lisa; Linney, Kristen N; Shianna, Kevin V; Gumbs, Curtis E; Smith, Jason; Cronin, Kenneth D; Maia, Jessica M; Doherty, Colin P; Pandolfo, Massimo; Leppert, David; Middleton, Lefkos T; Gibson, Rachel A; Johnson, Michael R; Matthews, Paul M; Hosford, David; Kälviäinen, Reetta; Eriksson, Kai; Kantanen, Anne-Mari; Dorn, Thomas; Hansen, Jörg; Krämer, Günter; Steinhoff, Bernhard J; Wieser, Heinz-Gregor; Zumsteg, Dominik; Ortega, Marcos; Wood, Nicholas W; Huxley-Jones, Julie; Mikati, Mohamad; Gallentine, William B; Husain, Aatif M; Buckley, Patrick G; Stallings, Ray L; Podgoreanu, Mihai V; Delanty, Norman; Sisodiya, Sanjay M; Goldstein, David B

2010-05-14

Deletions at 16p13.11 are associated with schizophrenia, mental retardation, and most recently idiopathic generalized epilepsy. To evaluate the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, we used genome-wide screens to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes and in 1299 neurologically-normal controls. Large deletions (> 100 kb) at 16p13.11 were observed in 23 patients, whereas no control had a deletion greater than 16 kb. Patients, even those with identically sized 16p13.11 deletions, presented with highly variable epilepsy phenotypes. For a subset of patients with a 16p13.11 deletion, we show a consistent reduction of expression for included genes, suggesting that haploinsufficiency might contribute to pathogenicity. We also investigated another possible mechanism of pathogenicity by using hybridization-based capture and next-generation sequencing of the homologous chromosome for ten 16p13.11-deletion patients to look for unmasked recessive mutations. Follow-up genotyping of suggestive polymorphisms failed to identify any convincing recessive-acting mutations in the homologous interval corresponding to the deletion. The observation that two of the 16p13.11 deletions were larger than 2 Mb in size led us to screen for other large deletions. We found 12 additional genomic regions harboring deletions > 2 Mb in epilepsy patients, and none in controls. Additional evaluation is needed to characterize the role of these exceedingly large, non-locus-specific deletions in epilepsy. Collectively, these data implicate 16p13.11 and possibly other large deletions as risk factors for a wide range of epilepsy disorders, and they appear to point toward haploinsufficiency as a contributor to the pathogenicity of deletions. Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Deletion Mutagenesis and Identification of Causative Mutations in Maize.

Science.gov (United States)

Jia, Shangang; Li, Aixia; Zhang, Chi; Holding, David

2018-01-01

We describe a method for gamma-irradiation of mature maize seeds to generate mutants with opaque endosperm and reduced kernel fill phenotypes. We also describe methods for mapping mutants and identifying causal gene mutations. Using this method, a population of 1788M2 families and 47 Mo17 × F2s showing stable, segregating, and viable kernel phenotypes was developed. For molecular characterization of the mutants, we utilized a novel functional genomics platform that combines separate Bulked Segregant RNA and exome sequencing data sets (BSREx-seq) to map causative mutations and identify candidate genes within mapping intervals. We also describe the use of exome capture sequencing of F2 mutant and normal pools to perform mapping and candidate gene identification without the need for separate RNA-seq (BSEx-seq). To exemplify the utility of the deletion mutants for functional genomics and provide proof-of-concept for the bioinformatics platform, we summarize the identification of the causative deletion in two mutants. Mutant 937, which was characterized by BSREx-seq, harbors a 6203-bp in-frame deletion covering six exons within the Opaque-1 gene on chromosome 4. Preliminary investigation of opaque mutant 1486 with BSEx-seq shows a tight mapping interval and associated deletion on chromosome 10.

Spring valve for well completion

Energy Technology Data Exchange (ETDEWEB)

Gorbatov, P T

1966-07-22

A spring-loaded valve for well completion consists of a housing with a spring-loaded closing element. In order to protect the closing element from corrosion which might lower the pressure drop, the closing element is made in the form of a piston. It is tightly connected with sealing elements. The housing has orifices, overlapping the piston in the initial position.

ASYMMETRIC EFFECTS OF ADDED VERSUS DELETED FEATURE OF STIMULUS ON RECOGNITION MEMORY

OpenAIRE

内野, 八潮; 箱田, 裕司

2000-01-01

This article reviewed a number of studies which revealed superiority of addition over deletion. Such an asymmetric effect was found in picture recognitioa memory, discrimination learning, proofreading for misspellings and so on. However, few studies have controlled typicality of original stimulus or the effect of addition and deletion on typicality of changed stimulus. Therefore this article focussed particularly on the studies in which addition and deletion applied to original stimulus was d...

SELECTED PARAMETERS OF THE WORK OF SPEED LIMITER IN LINE STRAINING SYSTEM IN A FRICTIONAL LIFT

Directory of Open Access Journals (Sweden)

Paweł Lonkwic

2014-03-01

Full Text Available The article presents the analysis of selected work parameters of speed limiter in line straining system. We analyzed the effect of changing the geometrical conditions of the new solution for the speed limiter in line straining system upon the working conditions in frictional lift braking system. Within the conducted simulations of the work of the system, which is responsible for lift braking with a tension with spring, a test bed was prepared, which simulated the work of tension-rope-limiter system. The tests were performed in the conditions reflecting the work of a lifting appliance. Analyzing the results obtained through empirical calculations, we can conclude that there is a possibility of applying the spring to eliminate the weight.

Effects of the time of application and the form of nitrogen on two maize inbred lines seed yield

Directory of Open Access Journals (Sweden)

Hojka Zdravko

2005-01-01

Full Text Available The study was carried out in the experimental filed of the Maize Research Institute, Zemun Polje, on calcareous chernozem in the period 2001-2003. The traits of two maize inbred lines (L1-FAO 400 and L2-FAO 600 were observed in dependence on the time of the nitrogen application (No-control without fertilizing; Nautumn - 60 kg P2O5 ha-1 and 60 kg K2O ha-1 applied in autumn (const + 100 kg N ha-1 (applied in autumn; Nspring - PK (const + 100 kg N ha-1 (applied in spring; N1/2 - PK (const + 100 kg N ha-1 (half of which was applied in autumn and the other half in spring; N1/2-PK (const 100 kg N ha-1 (1/3 of which was applied in autumn, 1/3 in spring and 1/3 through soil dressing; Nmin - PK (const + fertilizing in spring on the basis of the Nmin method, and forms of applied nitrogen: Urea (amide form KAN (ammonium-nitrate form and (NH42SO4 (ammonium form. The highest average yield was obtained by the use of Nmin method (3,486 kg ha-1, as well as, 100 kg N ha-1 applied in sprig (Nspring (3,337 kg ha-1, 100 kg N ha-1 applied in autumn and spring (N1/2 (3,020 kgha-1 and 100 kg N ha-1 applied in autumn, spring and soil dressing (N1/3 (3,005 kg ha-1 in the ammonium-nitrate form (KAN. The highest average seed yield of observed maize inbred lines (3,264 kg ha-1 was obtained by the application of ammonium-sulphate in the primary tillage (Nautumn. The use of the Nmin method (N ranging from 17 to 35 kg ha-1, in dependence on the soil mineral nitrogen content, especially in years with lower precipitation sums resulted in the highest increase in seed yield (39.2% of observed maize inbred lines in relation to the control.

A New Intergenic α-Globin Deletion (α-αΔ125) Found in a Kabyle Population.

Science.gov (United States)

Singh, Amrathlal Rabbind; Lacan, Philippe; Cadet, Estelle; Bignet, Patricia; Dumesnil, Cécile; Vannier, Jean-Pierre; Joly, Philippe; Rochette, Jacques

2016-01-01

We have identified a deletion of 125 bp (α-α(Δ125)) (NG_000006.1: g.37040_37164del) in the α-globin gene cluster in a Kabyle population. A combination of singlex and multiplex polymerase chain reaction (PCR)-based assays have been used to identify the molecular defect. Sequencing of the abnormal PCR amplification product revealed a novel α1-globin promoter deletion. The endpoints of the deletion were characterized by sequencing the deletion junctions of the mutated allele. The observed deletion was located 378 bp upstream of the α1-globin gene transcription initiation site and leaves the α2 gene intact. In some patients, the α-α(Δ125) deletion was shown to segregate with Hb S (HBB: c.20A>T) and/or Hb C (HBB: c.19G>A) or a β-thalassemic allele. The α-α(Δ125) deletion has no discernible effect on red cell indices when inherited with no other abnormal globin genes. The family study demonstrated that the deletion is heritable. This is the only example of an intergenic α2-α1 non coding DNA deletion, leaving the α2-globin gene and the α1 coding part intact.

Elliptical Leaf Spring Shock and Vibration Mounts with Enhanced Damping and Energy Dissipation Capabilities Using Lead Spring

Directory of Open Access Journals (Sweden)

Moussa Leblouba

2015-01-01

Full Text Available We present an enhancement to the existing elliptical leaf spring (ELS for improved damping and energy dissipation capabilities. The ELS consists of a high tensile stainless steel elliptical leaf spring with polymer or rubber compound. This device is conceived as a shock and vibration isolator for equipment and lightweight structures. The enhancement to the ELS consists of a lead spring plugged vertically between the leaves (referred to as lead-rubber elliptical leaf spring (LRELS. The lead is shown to produce hysteretic damping under plastic deformations. The LRELS isolator is shown to exhibit nonlinear hysteretic behavior. In both horizontal directions, the LRELS showed symmetrical rate independent behavior but undergoes stiffening behavior under large displacements. However, in the vertical direction, the LRELS behavior is asymmetric, exhibiting softening behavior in compression and stiffening behavior in tension. Mathematical models based on the Bouc-Wen model, describing the hysteretic behavior of the proposed isolator, are developed and numerically calibrated using a series of finite element analyses. The LRELS is found to be effective in the in-plane and vertical directions. The improved damping and energy dissipation of the LRELS is provided from the hysteretic damping of the lead spring.

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

Science.gov (United States)

DeScipio, Cheryl; Conlin, Laura; Rosenfeld, Jill; Tepperberg, James; Pasion, Romela; Patel, Ankita; McDonald, Marie T; Aradhya, Swaroop; Ho, Darlene; Goldstein, Jennifer; McGuire, Marianne; Mulchandani, Surabhi; Medne, Livija; Rupps, Rosemarie; Serrano, Alvaro H; Thorland, Erik C; Tsai, Anne C-H; Hilhorst-Hofstee, Yvonne; Ruivenkamp, Claudia A L; Van Esch, Hilde; Addor, Marie-Claude; Martinet, Danielle; Mason, Thornton B A; Clark, Dinah; Spinner, Nancy B; Krantz, Ian D

2012-09-01

We describe 19 unrelated individuals with submicroscopic deletions involving 10p15.3 characterized by chromosomal microarray (CMA). Interestingly, to our knowledge, only two individuals with isolated, submicroscopic 10p15.3 deletion have been reported to date; however, only limited clinical information is available for these probands and the deleted region has not been molecularly mapped. Comprehensive clinical history was obtained for 12 of the 19 individuals described in this study. Common features among these 12 individuals include: cognitive/behavioral/developmental differences (11/11), speech delay/language disorder (10/10), motor delay (10/10), craniofacial dysmorphism (9/12), hypotonia (7/11), brain anomalies (4/6) and seizures (3/7). Parental studies were performed for nine of the 19 individuals; the 10p15.3 deletion was de novo in seven of the probands, not maternally inherited in one proband and inherited from an apparently affected mother in one proband. Molecular mapping of the 19 individuals reported in this study has identified two genes, ZMYND11 (OMIM 608668) and DIP2C (OMIM 611380; UCSC Genome Browser), mapping within 10p15.3 which are most commonly deleted. Although no single gene has been identified which is deleted in all 19 individuals studied, the deleted region in all but one individual includes ZMYND11 and the deleted region in all but one other individual includes DIP2C. There is not a clearly identifiable phenotypic difference between these two individuals and the size of the deleted region does not generally predict clinical features. Little is currently known about these genes complicating a direct genotype/phenotype correlation at this time. These data however, suggest that ZMYND11 and/or DIP2C haploinsufficiency contributes to the clinical features associated with 10p15 deletions in probands described in this study. Copyright © 2012 Wiley Periodicals, Inc.

Heart defects and other features of the 22q11 distal deletion syndrome

DEFF Research Database (Denmark)

Fagerberg, Christina Ringmann; Graakjaer, Jesper; Heinl, Ulrike D

2013-01-01

patients with 22q11 distal deletions, of whom two have complex congenital heart malformation, thus broadening the phenotypic spectrum. We compare cardiac malformations reported in 22q11 distal deletion to those reported in the common 22q11 deletion syndrome. We also review the literature for patients...... with 22q11 distal deletions, and discuss the possible roles of haploinsufficiency of the MAPK1 gene. We find the most frequent features in 22q11 distal deletion to be developmental delay or learning disability, short stature, microcephalus, premature birth with low birth weight, and congenital heart...... malformation ranging from minor anomalies to complex malformations. Behavioral problems are also seen in a substantial portion of patients. The following dysmorphic features are relatively common: smooth philtrum, abnormally structured ears, cleft palate/bifid uvula, micro-/retrognathia, upslanting palpebral...

Seven gene deletions in seven days

DEFF Research Database (Denmark)

Ingemann Jensen, Sheila; Lennen, Rebecca; Herrgard, Markus

2015-01-01

Generation of multiple genomic alterations is currently a time consuming process. Here, a method was established that enables highly efficient and simultaneous deletion of multiple genes in Escherichia coli. A temperature sensitive plasmid containing arabinose inducible lambda Red recombineering ...

Analytical Technique of Selection of Constructive Parameters Pneumatichydraulic Springs

Directory of Open Access Journals (Sweden)

A. A. Tsipilev

2014-01-01

Full Text Available The article "Technique for Analytical Selection of Design Parameters of Pneumatichydraulic Springs concerns the ride smoothness of high-speed vehicles. Author of article Tsipilev A.A. is an assistant at chair "Multi-purpose Tracked Vehicles and Mobile Robots" of BMSTU. The article represents a synthesis of known information on the springing systems and an analysis of relation between spring design data and running gear. It describes standard units of running gear of vehicle in the context of springing systems. Classification of springing systems is considered. Modernization general policy for existing suspensions and prospects for creation of new ones are given. The article considers a design of various pneumatic-hydraulic springs to be set on domestic tracked vehicles. A developed technique allows us to have elastic characteristics of pneumatic-hydraulic springs of various types using these design data and kinematics of the running gear. The article provides recommendations to calculate characteristics of springing systems. The adequacy analysis of the given technique based on the comparison of real and rated characteristics of the existing suspension is conducted. This article can be useful to the experts dealing with springing systems of wheel and tracked vehicles.

Pressurizer safety valve serviceability enhancement by spring compression stability

Energy Technology Data Exchange (ETDEWEB)

Ratiu, M.D.; Moisidis, N.T. [California Consulting Engineering and Technology (CALCET), San Leandro, California (United States)

2007-07-01

The proactive maintenance of the spring-loaded-self-actuated Pressurizer Safety Valve (PSV) has caused frequent concerns pertaining the spring self actuated reliability due to set point drift, spurious openings, and seat leakage. The exhaustive testing performed on a Crosby PSV model 6M6 has revealed that the principal cause of these malfunctions is the spring compression elastic instability during service. The spring lateral deformations measurements performed validated the analytical shapes for spring compression: symmetrical bending - for coaxial supported ends - restraining any support displacement, and asymmetrical bending induced by the potential misalignment of the supported top end. The source of the spring compression instability appears on the tested Crosby PSV induced by the top end lateral displacement during long term operation. The testing with restrained displacement at the spring top has shown consistent set-point reproducibility, less than +/- 1 per cent. To eliminate the asymmetrical spring buckling, a design review of the PSV is proposed including the guided fixture at the top and the decrease of spring coil slenderness ratio H/D, corresponding to the general analytical elastic stability for the asymmetrical compression. (authors)

Pressurizer safety valve serviceability enhancement by spring compression stability

International Nuclear Information System (INIS)

Ratiu, M.D.; Moisidis, N.T.

2007-01-01

The proactive maintenance of the spring-loaded-self-actuated Pressurizer Safety Valve (PSV) has caused frequent concerns pertaining the spring self actuated reliability due to set point drift, spurious openings, and seat leakage. The exhaustive testing performed on a Crosby PSV model 6M6 has revealed that the principal cause of these malfunctions is the spring compression elastic instability during service. The spring lateral deformations measurements performed validated the analytical shapes for spring compression: symmetrical bending - for coaxial supported ends - restraining any support displacement, and asymmetrical bending induced by the potential misalignment of the supported top end. The source of the spring compression instability appears on the tested Crosby PSV induced by the top end lateral displacement during long term operation. The testing with restrained displacement at the spring top has shown consistent set-point reproducibility, less than +/- 1 per cent. To eliminate the asymmetrical spring buckling, a design review of the PSV is proposed including the guided fixture at the top and the decrease of spring coil slenderness ratio H/D, corresponding to the general analytical elastic stability for the asymmetrical compression. (authors)

The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.

Science.gov (United States)

Vaughn, Cecily P; Baker, Christine L; Samowitz, Wade S; Swensen, Jeffrey J

2013-01-01

Lynch syndrome is characterized by mutations in one of four mismatch repair genes, MLH1, MSH2, MSH6, or PMS2. Clinical mutation analysis of these genes includes sequencing of exonic regions and deletion/duplication analysis. However, detection of deletions and duplications in PMS2 has previously been confined to Exons 1-11 due to gene conversion between PMS2 and the pseudogene PMS2CL in the remaining 3' exons (Exons 12-15). We have recently described an MLPA-based method that permits detection of deletions of PMS2 Exons 12-15; however, the frequency of such deletions has not yet been determined. To address this question, we tested for 3' deletions in 58 samples that were reported to be negative for PMS2 mutations using previously available methods. All samples were from individuals whose tumors exhibited loss of PMS2 immunohistochemical staining without concomitant loss of MLH1 immunostaining. We identified seven samples in this cohort with deletions in the 3' region of PMS2, including three previously reported samples with deletions of Exons 13-15 (two samples) and Exons 14-15. Also detected were deletions of Exons 12-15, Exon 13, and Exon 14 (two samples). Breakpoint analysis of the intragenic deletions suggests they occurred through Alu-mediated recombination. Our results indicate that ∼12% of samples suspected of harboring a PMS2 mutation based on immunohistochemical staining, for which mutations have not yet been identified, would benefit from testing using the new methodology. Copyright © 2012 Wiley Periodicals, Inc.

Shape modification for decreasing the spring stiffness of double-plate nozzle type spacer grid spring

International Nuclear Information System (INIS)

Lee, K. H.; Kang, H. S.; Song, K. N.; Yun, K. H.; Kim, H. K.

2001-01-01

Nozzle of the double-plated grid plays the role of the spirng to support a fuel rod as well as the coolant path in grid. The nozzle was known to be necessary to reduce the spring stiffness for supporting performance. In this study, the contact analysis between the fuel rod and the newly designed nozzle was performed by ABAQUS computer code to propose the preferable shape in term of spring performance. Two small cut at the upper and lower part of the nozzle appeared to have a minor effect in decreasing the nozzle stiffness. A long slot at the center of the nozzle was turned out not only to decrease the spring constant as desired but also to increase the elastic displacement

Deletion Analysis Of The Duchenne/Becker Muscular Dystrophy Gene Using Multiplex Polymerase Chain Reaction

Directory of Open Access Journals (Sweden)

Dastur P

2004-01-01

Full Text Available The diagnosis of Duchenna Muscular Dystrophy (DMD and Becker Muscular Dystorphy (BMD is mainly based on clinical profile, serum CPK values, muscle biopsy and immunostaining for dystrophin. This was done in 100 unrelated patients using 19 exons including the promoter region in two sets of multiplex polymerase chain reaction (PCR. These primers amplify most of the exons in the deletion prone ′hot spot′ regions allowing determinations of deletion end points. Intragenic deletions were detected in 74 patients indicating that the use of PCR- based assays will allow deletion detection help in prenatal diagnosis for most of the DMD/BMD patients. The frequency of deletions observed in the present study was 74%.

Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

OpenAIRE

Fantes, J A; Bickmore, W A; Fletcher, J M; Ballesta, F; Hanson, I M; van Heyningen, V

1992-01-01

Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus. We have detected a submicroscopic 11p13 deletion in a child with inherited aniridia who subsequently presented with Wilms tumor in a horseshoe kidney, only revealed at surgery. The mother, who has aniridia, was also found to carry a deletion including both the ...

Preliminary geothermal investigations at Manley Hot Springs, Alaska

Energy Technology Data Exchange (ETDEWEB)

East, J.

1982-04-01

Manley Hot Springs is one of several hot springs which form a belt extending from the Seward Peninsula to east-central Alaska. All of the hot springs are low-temperature, water-dominated geothermal systems, having formed as the result of circulation of meteoric water along deepseated fractures near or within granitic intrusives. Shallow, thermally disturbed ground at Manley Hot Springs constitutes an area of 1.2 km by 0.6 km along the lower slopes of Bean Ridge on the north side of the Tanana Valley. This area includes 32 springs and seeps and one warm (29.1/sup 0/C) well. The hottest springs range in temperature from 61/sup 0/ to 47/sup 0/C and are presently utilized for space heating and irrigation. This study was designed to characterize the geothermal system present at Manley Hot Springs and delineate likely sites for geothermal drilling. Several surveys were conducted over a grid system which included shallow ground temperature, helium soil gas, mercury soil and resistivity surveys. In addition, a reconnaissance ground temperature survey and water chemistry sampling program was undertaken. The preliminary results, including some preliminary water chemistry, show that shallow hydrothermal activity can be delineated by many of the surveys. Three localities are targeted as likely geothermal well sites, and a model is proposed for the geothermal system at Manley Hot Springs.

Clinical and molecular consequences of exon 78 deletion in DMD gene.

Science.gov (United States)

Traverso, Monica; Assereto, Stefania; Baratto, Serena; Iacomino, Michele; Pedemonte, Marina; Diana, Maria Cristina; Ferretti, Marta; Broda, Paolo; Minetti, Carlo; Gazzerro, Elisabetta; Madia, Francesca; Bruno, Claudio; Zara, Federico; Fiorillo, Chiara

2018-03-19

We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detected a single deletion of exon 78. To the best of our knowledge, DMD exon 78 deletion has never been described in literature and, according to prediction, it should lead to loss of reading frame in the dystrophin gene. To further assess the actual effect of exon 78 deletion, we analysed cDNA from muscle mRNA. This analysis confirmed the absence of 32 bp of exon 78. Exclusion of exon 78 changes the open reading frame of exon 79 and generate a downstream stop codon, producing a dystrophin protein of 3703 amino acids instead of 3685 amino acids. Albeit loss of reading frame usually leads to protein degradation and severe phenotype, in this case, we demonstrated that deletion of DMD exon 78 can be associated with a functional protein able to bind DGC complex and a very mild phenotype. This study adds a novel deletion in DMD gene in human and helps to define the compliance between maintaining/disrupting the reading frame and clinical form of the disease.

Recharge mechanism in karstic systems investigation through the correlation of chemical and isotopic composition of rain and spring-water (case study: Figeh and Barada springs)

International Nuclear Information System (INIS)

Al-Charideh, A.

2012-03-01

Karst aquifers represents an important groundwater resources not only in Syria, but in the world-wide. The hydrological approaches for studying the karst system were developed in the last tow decade. One of the main approaches is the use of natural isotopes and hydrochemical traces for description the recharge and discharge and estimate the recharge rate of karst aquifer system. The main filed site tests are the Figeh and Barada karst aquifer, located in the carbonate rocks of the Anti-Lebanon Mountains. Environmental isotopes and chemical major ions (δ 18 Ο, δ 2 H and 3 H), in precipitation and groundwater were integrated for studying the isotope and hydrochemical characterization and the description of temporal variations of groundwater discharge from the karst springs of Figeh and Barada which are considered as the main large springs due to there huge discharge in the Anti-Lebanon Mountains. The δ 18 O values are -8.9 and -7.7. for Figeh and Barada respectively. The regression line for both precipitation and groundwater discharge from Figeh and Barada is described by the equation: δD = 7.9δ 18 O + 19.7 wish shows no evaporation during precipitation and suggest that the groundwater are mainly from direct infiltration of precipitation. The altitude gradients in the precipitation were estimated to be -0.23./100 m for δ 18 O. The main recharge areas were estimated to be 2000±50 and 1350±50 m.a.s.l for Figeh and Barada springs.The chloride mass balance (CMB) method was used to quantify recharge rates of groundwater in the Mountain karst aquifer of Figeh spring. The recharge rate varies from 192 to 825 mm year-1, which corresponds to 43 and 67% of the total annual rainfall. Recharge rates estimated by CMB were compared with values obtained from other methods and were found to be in good agreement. The tritium concentrations in groundwater are low and very close to the rainfall value 4.5 Tu for meteoric stations. Adopting a model with exponential time

The climatic record of the earliest spring in Romania, regarding the south-east part of the country – spring 2016

Directory of Open Access Journals (Sweden)

I. OCTAVIA BOGDAN

2016-11-01

Full Text Available The climatic record of the earliest spring in Romania, regarding the south-east part of the country – Spring 2016. In the past 30 years it has been an increasing frequency of early SPRING ARRIVAL. Therefore, vegetation development started in early February. In March, the warm weather continued almost throughout the month, and the hoarfrosts from March became hereby destructive. Frequently, the vegetation in April was in very advanced stages. Even though the temperatures rose in April, cooling in April and late spring hoarfrosts have occurred and caused considerable damage. In this study we analyze the climatic macroprocesses that led to the apparition of an absolute climate record for the earliest spring arrival in 2016. The work is useful to anyone interested in climate change in Romania.

Manufacture of conical springs with elastic medium technology improvement

Science.gov (United States)

Kurguzov, S. A.; Mikhailova, U. V.; Kalugina, O. B.

2018-01-01

This article considers the manufacturing technology improvement by using an elastic medium in the stamping tool forming space to improve the conical springs performance characteristics and reduce the costs of their production. Estimation technique of disk spring operational properties is developed by mathematical modeling of the compression process during the operation of a spring. A technique for optimizing the design parameters of a conical spring is developed, which ensures a minimum voltage value when operated in the edge of the spring opening.

Genetics of flowering time in bread wheat Triticum aestivum: complementary interaction between vernalization-insensitive and photoperiod-insensitive mutations imparts very early flowering habit to spring wheat.

Science.gov (United States)

Kumar, Sushil; Sharma, Vishakha; Chaudhary, Swati; Tyagi, Anshika; Mishra, Poonam; Priyadarshini, Anupama; Singh, Anupam

2012-01-01

Time to flowering in the winter growth habit bread wheat is dependent on vernalization (exposure to cold conditions) and exposure to long days (photoperiod). Dominant Vrn-1 (Vrn-A1, Vrn-B1 and Vrn-D1) alleles are associated with vernalization independent spring growth habit. The semidominant Ppd-D1a mutation confers photoperiod-insensitivity or rapid flowering in wheat under short day and long day conditions. The objective of this study was to reveal the nature of interaction between Vrn-1 and Ppd-D1a mutations (active alleles of the respective genes vrn-1 and Ppd-D1b). Twelve Indian spring wheat cultivars and the spring wheat landrace Chinese Spring were characterized for their flowering times by seeding them every month for five years under natural field conditions in New Delhi. Near isogenic Vrn-1 Ppd-D1 and Vrn-1 Ppd-D1a lines constructed in two genetic backgrounds were also phenotyped for flowering time by seeding in two different seasons. The wheat lines of Vrn-A1a Vrn-B1 Vrn-D1 Ppd-D1a, Vrn-A1a Vrn-B1 Ppd-D1a and Vrn-A1a Vrn-D1 Ppd-D1a (or Vrn-1 Ppd-D1a) genotypes flowered several weeks earlier than that of Vrn-A1a Vrn-B1 Vrn-D1 Ppd-D1b, Vrn-A1b Ppd-D1b and Vrn-D1 Ppd-D1b (or Vrn-1 Ppd-D1b) genotypes. The flowering time phenotypes of the isogenic vernalization-insensitive lines confirmed that Ppd-D1a hastened flowering by several weeks. It was concluded that complementary interaction between Vrn-1 and Ppd-D1a active alleles imparted super/very-early flowering habit to spring wheats. The early and late flowering wheat varieties showed differences in flowering time between short day and long day conditions. The flowering time in Vrn-1 Ppd-D1a genotypes was hastened by higher temperatures under long day conditions. The ambient air temperature and photoperiod parameters for flowering in spring wheat were estimated at 25°C and 12 h, respectively.

Stiffness and design for strength of trapezoidal Belleville springs

DEFF Research Database (Denmark)

Pedersen, Niels Leergaard; Pedersen, Pauli

2011-01-01

in this paper. Finite element results are compared with analytical predictions and critically analysed in terms of the effect of Poisson ratio, overall stiffness, and stress distribution in the spring. This is done in order to verify the range of validity of design standards. Finite element analysis emerges......Belleville springs or coned disc springs are commonly used in machine design. The geometric dimensions of the spring and the determination of non-linear force–displacement curve are regulated by different standards. However, the theory behind Belleville spring design standards is founded on a study...... published in 1936. Furthermore, the common spring design with cross-sections of uniform thickness poses problems in terms of non-uniformity of stress distribution. In view of this, non-linear three-dimensional finite element analyses of spring designs including uniform or variable thickness are carried out...

Top Nozzle Holddown Spring Optimization of KSNP Fuel Assembly

International Nuclear Information System (INIS)

Lee, Seong Ki; Park, Nam Kyu; Kim, Hyeong Koo; Lee, Joon Ro; Kim, Jae Won

2002-01-01

Nuclear fuel assembly for Korea Standard Nuclear Power (KSNP) Plant has 4 helical compression springs at the upper end of it. The springs, in conjunction with the fuel assembly weight, apply a holddown force against excess of buoyancy forces and the upward hydraulic forces due to the reactor coolant flow. Thus the holddown spring is to be designed such that the positive net downward force will be maintained for all normal and anticipated transient flow and temperature conditions in the nuclear reactor. With satisfying these in-reactor requirements of the fuel assembly holddown spring. Under the assumption that spring density is constant, the volume nozzle holddown spring. Under the assumption that spring density is constant, the volume minimization is executed by using the design variables, viz., wire diameter, mean coil diameter, minimization is executed by using the design variables, viz., wire diameter, mean coil diameter are within the compatible range of the fuel assembly structural components. Based on these conditions, the optimum design of the holddown spring is obtained considering the reactor operating condition and by using ANSYS code. The optimized spring has the properties that are a decreased volume and increased stiffness, compared with the existing one even if the absolute values are very similar each other. The holddown spring design features and the algorithm developed in this study could be directly applicable to the current commercial production. Therefore, it could be used to enhance the design efficiency and the functional performance of the spring, and to reduce a material cost a little

Prenatal Diagnosis and Molecular Analysis of a Large Novel Deletion (- -JS) Causing α0-Thalassemia.

Science.gov (United States)

Cao, Jinru; He, Shuzhen; Pu, Yudong; Liu, Jingjing; Liu, Fuping; Feng, Jun

α-Thalassemia (α-thal) is a very common single gene hereditary disease caused by large deletions or point mutations of the α-globin gene cluster in tropical and subtropical regions of the world. Here, we report for the first time, a novel large α-thal deletion in a Chinese family from Jiangsu Province, People's Republic of China (PRC), which removes almost the entire α2 and α1 genes from the α-globin gene cluster. Thus, it was named the Jiangsu deletion (- - JS ) on the α-globin gene cluster causing α 0 -thal. Heterozygotes for this deletion showed an α-thal trait phenotype with reduced mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) levels. The sequencing results showed that a 2538 bp deletion (NG_000006.1: g.35801_38338) existed in this novel genotype on the basis of -α 4.2 (leftward), indicating a deletion of about 6.8 kb from the α-globin cluster. In addition, a 29 bp sequence was inserted into the deletion during the recombination events that led to this deletion. Through pedigree analysis, we knew that the proband inherited the novel allele from his mother.

Geochemistry and hydrology of perched groundwater springs: assessing elevated uranium concentrations at Pigeon Spring relative to nearby Pigeon Mine, Arizona (USA)

Science.gov (United States)

Beisner, Kimberly R.; Paretti, Nicholas; Tillman, Fred; Naftz, David L.; Bills, Donald; Walton-Day, Katie; Gallegos, Tanya J.

2017-01-01

The processes that affect water chemistry as the water flows from recharge areas through breccia-pipe uranium deposits in the Grand Canyon region of the southwestern United States are not well understood. Pigeon Spring had elevated uranium in 1982 (44 μg/L), compared to other perched springs (2.7–18 μg/L), prior to mining operations at the nearby Pigeon Mine. Perched groundwater springs in an area around the Pigeon Mine were sampled between 2009 and 2015 and compared with material from the Pigeon Mine to better understand the geochemistry and hydrology of the area. Two general groups of perched groundwater springs were identified from this study; one group is characterized by calcium sulfate type water, low uranium activity ratio 234U/238U (UAR) values, and a mixture of water with some component of modern water, and the other group by calcium-magnesium sulfate type water, higher UAR values, and radiocarbon ages indicating recharge on the order of several thousand years ago. Multivariate statistical principal components analysis of Pigeon Mine and spring samples indicate Cu, Pb, As, Mn, and Cd concentrations distinguished mining-related leachates from perched groundwater springs. The groundwater potentiometric surface indicates that perched groundwater at Pigeon Mine would likely flow toward the northwest away from Pigeon Spring. The geochemical analysis of the water, sediment and rock samples collected from the Snake Gulch area indicate that the elevated uranium at Pigeon Spring is likely related to a natural source of uranium upgradient from the spring and not likely related to the Pigeon Mine.

Induction of Mitochondrial DNA Deletion by Ionizing Radiation in Human Lung Fibroblast IMR-90 Cells

International Nuclear Information System (INIS)

Eom, Hyeon Soo; Jung, U Hee; Park, Hae Ran; Jo, Sung Kee

2009-01-01

Mitochondrial DNA (mtDNA) deletion is a well-known marker for oxidative stress and aging and also contributes to their unfavorable effects in cultured cells and animal tissues. This study was conducted to investigate the effect of ionizing radiation (IR) on mtDNA deletion and the involvement of reactive oxygen species (ROS) in this process in human lung fibroblast (IMR-90) cells. Young IMR-90 cells at population doubling (PD) 39 were irradiated with 137 Cs -rays and the intracellular ROS level was determined by 2',7'-dichlorofluorescein diacetate (DCFH-DA) and mtDNA common deletion (4977bp) was detected by nested PCR. Old cells at PD 55 and H 2 O 2 -treated young cells were compared as the positive control. IR increased the intracellular ROS level and mtDNA 4977 bp deletion in IMR-90 cells dose-dependently. The increases of ROS level and mtDNA deletion were also observed in old cells and H 2 O 2 -treated young cells. To confirm the increased ROS level is essential for mtDNA deletion in irradiated cells, the effects of N-acetylcysteine (NAC) on IRinduced ROS and mtDNA deletion were examined. 5 mM NAC significantly attenuated the IR-induced ROS increase and mtDNA deletion. These results suggest that IR induces the mtDNA deletion and this process is mediated by ROS in IMR-90 cells

Kinetic Line Voronoi Operations and Their Reversibility

DEFF Research Database (Denmark)

Mioc, Darka; Anton, François; Gold, Christopher

2010-01-01

In Geographic Information Systems the reversibility of map update operations has not been explored yet. In this paper we are using the Voronoi based Quad-edge data structure to define reversible map update operations. The reversibility of the map operations has been formalised at the lowest level...... mechanisms and dynamic map visualisations. In order to use the reversibility within the kinetic Voronoi diagram of points and open oriented line segments, we need to assure that reversing the map commands will produce exactly the changes in the map equivalent to the previous map states. To prove...... that reversing the map update operations produces the exact reverse changes, we show an isomorphism between the set of complex operations on the kinetic Voronoi diagram of points and open oriented line segments and the sets of numbers of new / deleted Voronoi regions induced by these operations, and its...

Wolfcampian brachiopods from the Bird Spring Group, Wamp Spring area, Las Vegas Range, Clark County, Nevada ( USA).

Science.gov (United States)

Mills, P.C.; Langenheim, R.L.

1987-01-01

The Wamp Spring section of the Bird Spring Group is subdivided into a basal platy limestone member, lower cliff-forming member, and upper cliff-forming member. Triticites, Schwagerina, and Schubertella kingi in the platy limestone member indicate an early Wolfcampian age. Schwagerina, Schubertella kingi, and a distinctive assemblage of brachiopods, similar to the West Texas fauna, indicate that the upper cliff-forming member is late Wolfcampian. The lower cliff-forming member is tentatively assigned to the middle Wolfcampian. The Wamp Spring sequence correlates temporally with the BSe 'formation' of the Bird Spring Group. The fossil-rich upper cliff-forming limestone member includes the new species Pontisia boodi, Crurithyris wampensis, and Calliprotonia(?) n. sp. A, as well as Hustedia culcitula, Crenispirifer(?) sp., Cenorhynchia(?) sp., Kutorginella(?) sp., marginiferids, lyssacine hexactinellid sponges, pleurotomarid and bellerophontid gastropods, cidaroid echinoids, rugose corals, cylindrical cryptostome bryozoans, and nuculids. -from Authors

Rare copy number deletions predict individual variation in intelligence.

Directory of Open Access Journals (Sweden)

Ronald A Yeo

2011-01-01

Full Text Available Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible for this heritability, but identified effects capture little variance and have proven difficult to replicate. The present study, motivated an interest in "mutation load" emerging from evolutionary perspectives, examined the importance of the number of rare (or infrequent copy number variations (CNVs, and the total number of base pairs included in such deletions, for psychometric intelligence. Genetic data was collected using the Illumina 1MDuoBeadChip Array from a sample of 202 adult individuals with alcohol dependence, and a subset of these (N = 77 had been administered the Wechsler Abbreviated Scale of Intelligence (WASI. After removing CNV outliers, the impact of rare genetic deletions on psychometric intelligence was investigated in 74 individuals. The total length of the rare deletions significantly and negatively predicted intelligence (r = -.30, p = .01. As prior studies have indicated greater heritability in individuals with relatively higher parental socioeconomic status (SES, we also examined the impact of ethnicity (Anglo/White vs. Other, as a proxy measure of SES; these groups did not differ on any genetic variable. This categorical variable significantly moderated the effect of length of deletions on intelligence, with larger effects being noted in the Anglo/White group. Overall, these results suggest that rare deletions (between 5% and 1% population frequency or less adversely affect intellectual functioning, and that pleotropic effects might partly account for the association of intelligence with health and mental health status. Significant limitations of this research, including issues of generalizability and CNV measurement, are discussed.

Rare Copy Number Deletions Predict Individual Variation in Intelligence

Science.gov (United States)

Yeo, Ronald A.; Gangestad, Steven W.; Liu, Jingyu; Calhoun, Vince D.; Hutchison, Kent E.

2011-01-01

Phenotypic variation in human intellectual functioning shows substantial heritability, as demonstrated by a long history of behavior genetic studies. Many recent molecular genetic studies have attempted to uncover specific genetic variations responsible for this heritability, but identified effects capture little variance and have proven difficult to replicate. The present study, motivated an interest in “mutation load” emerging from evolutionary perspectives, examined the importance of the number of rare (or infrequent) copy number variations (CNVs), and the total number of base pairs included in such deletions, for psychometric intelligence. Genetic data was collected using the Illumina 1MDuoBeadChip Array from a sample of 202 adult individuals with alcohol dependence, and a subset of these (N = 77) had been administered the Wechsler Abbreviated Scale of Intelligence (WASI). After removing CNV outliers, the impact of rare genetic deletions on psychometric intelligence was investigated in 74 individuals. The total length of the rare deletions significantly and negatively predicted intelligence (r = −.30, p = .01). As prior studies have indicated greater heritability in individuals with relatively higher parental socioeconomic status (SES), we also examined the impact of ethnicity (Anglo/White vs. Other), as a proxy measure of SES; these groups did not differ on any genetic variable. This categorical variable significantly moderated the effect of length of deletions on intelligence, with larger effects being noted in the Anglo/White group. Overall, these results suggest that rare deletions (between 5% and 1% population frequency or less) adversely affect intellectual functioning, and that pleotropic effects might partly account for the association of intelligence with health and mental health status. Significant limitations of this research, including issues of generalizability and CNV measurement, are discussed. PMID:21298096

Developing a composite based elliptic spring for automotive applications

International Nuclear Information System (INIS)

Talib, Abdul Rahim Abu; Ali, Aidy; Goudah, G.; Lah, Nur Azida Che; Golestaneh, A.F.

2010-01-01

An automotive suspension system is designed to provide both safety and comfort for the vehicle occupants. In this study, finite element models were developed to optimize the material and geometry of the composite elliptical spring based on the spring rate, log life and shear stress parameters. The influence of the ellipticity ratio on the performance of woven roving-wrapped composite elliptical springs was investigated both experimentally and numerically. The study demonstrated that composite elliptical springs can be used for light and heavy trucks with substantial weight reduction. The results showed that the ellipticity ratio significantly influenced the design parameters. Composite elliptic springs with ellipticity ratios of a/b = 2 had the optimum spring parameters.

Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Science.gov (United States)

Nickerson, M L; Witte, N; Im, K M; Turan, S; Owens, C; Misner, K; Tsang, S X; Cai, Z; Wu, S; Dean, M; Costello, J C; Theodorescu, D

2017-01-05

The utility of tumor-derived cell lines is dependent on their ability to recapitulate underlying genomic aberrations and primary tumor biology. Here, we sequenced the exomes of 25 bladder cancer (BCa) cell lines and compared mutations, copy number alterations (CNAs), gene expression and drug response to BCa patient profiles in The Cancer Genome Atlas (TCGA). We observed a mutation pattern associated with altered CpGs and APOBEC-family cytosine deaminases similar to mutation signatures derived from somatic alterations in muscle-invasive (MI) primary tumors, highlighting a major mechanism(s) contributing to cancer-associated alterations in the BCa cell line exomes. Non-silent sequence alterations were confirmed in 76 cancer-associated genes, including mutations that likely activate oncogenes TERT and PIK3CA, and alter chromatin-associated proteins (MLL3, ARID1A, CHD6 and KDM6A) and established BCa genes (TP53, RB1, CDKN2A and TSC1). We identified alterations in signaling pathways and proteins with related functions, including the PI3K/mTOR pathway, altered in 60% of lines; BRCA DNA repair, 44%; and SYNE1-SYNE2, 60%. Homozygous deletions of chromosome 9p21 are known to target the cell cycle regulators CDKN2A and CDKN2B. This loci was commonly lost in BCa cell lines and we show the deletions extended to the polyamine enzyme methylthioadenosine (MTA) phosphorylase (MTAP) in 36% of lines, transcription factor DMRTA1 (27%) and antiviral interferon epsilon (IFNE, 19%). Overall, the BCa cell line genomic aberrations were concordant with those found in BCa patient tumors. We used gene expression and copy number data to infer pathway activities for cell lines, then used the inferred pathway activities to build a predictive model of cisplatin response. When applied to platinum-treated patients gathered from TCGA, the model predicted treatment-specific response. Together, these data and analysis represent a valuable community resource to model basic tumor biology and to study

Angiotensin-converting enzyme insertion/deletion gene ...

Indian Academy of Sciences (India)

Angiotensin-converting enzyme insertion/deletion gene polymorphism in cystic fibrosis patients. Sabrine Oueslati Sondess Hadj Fredj Hajer Siala Amina Bibi Hajer Aloulou Lamia Boughamoura Khadija Boussetta Sihem Barsaoui Taieb Messaoud. Research Note Volume 95 Issue 1 March 2016 pp 193-196 ...

Angiotensin Converting Enzyme Insertion/Deletion Gene ...

African Journals Online (AJOL)

Angiotensin Converting Enzyme Insertion/Deletion Gene Polymorphism: An Observational Study among Diabetic Hypertensive Subjects in Malaysia. ... Methods: The pharmacological effect of ACE inhibition on mean arterial pressure (MAP) and glomerular filtration rate (GFR) were observed among a total of 62 subjects for ...

Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome.

Science.gov (United States)

Aguilera, Zenia P; Belin, Peter J; Cavuoto, Kara M; Jayakar, Parul; McKeown, Craig A

2015-10-01

Orbeli syndrome, or 13q deletion syndrome, is a rare condition caused by a distal deletion in the long arm of chromosome 13. The syndrome is characterized by severe physical malformations and developmental delays and has been associated with numerous ocular manifestations. We report the case of a 10-year-old boy with 13q deletion syndrome, who was evaluated for impaired vision and found to have bilateral retinal pigmentary changes resembling those seen in retinitis pigmentosa. There has only been one other case of retinal pigment variation in association with 13q deletion syndrome; however, this represents the first case of bilateral symmetric retinal pigmentary changes with corresponding rod and cone dysfunction on electroretinography. Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Spring Small Grains Area Estimation

Science.gov (United States)

Palmer, W. F.; Mohler, R. J.

1986-01-01

SSG3 automatically estimates acreage of spring small grains from Landsat data. Report describes development and testing of a computerized technique for using Landsat multispectral scanner (MSS) data to estimate acreage of spring small grains (wheat, barley, and oats). Application of technique to analysis of four years of data from United States and Canada yielded estimates of accuracy comparable to those obtained through procedures that rely on trained analysis.

Process improvements for enhanced productivity of PHWR garter springs

International Nuclear Information System (INIS)

Srinivasula Reddy, S.; Tonpe, Sunil; Saibaba, N.; Jayaraj, R.N.

2009-01-01

Full text: In Pressurised Heavy Water Reactors (PHWR), Garter springs are used as spacers between the coolant tube and calandria tube. Garter springs are made from Zirconium alloy containing 2.5 % Niobium and 0.5% copper. The springs are basically manufactured by coiling a wire of cross section 1.7 mm x 1.0 mm, which is produced by series of drawing and swaging operations using hot extruded rods of 19 mm diameter. The manufacturing process also involves heat treatment and chemical cleaning operations at appropriate stages. It is required to ensure that the life of springs against parameters like hydrogen pickup, residual stresses and low stiffness is improved at the manufacturing stage itself by improving manufacturing process. The impact of above problems on spring life and process improvements is briefly discussed. The critical factor affecting the garter spring performance in PHWR Reactor is mainly hydrogen. The life limiting factors for garter springs are the problems arising out of high total hydrogen content, which depends on the hydrogen pickup during reactor operation. This phenomenon can happen during the reactor operation, as springs are prone to pick-up hydrogen in the reactor environment. Hence acceptable hydrogen content for the springs is specified as 25 ppm (max.). Garter spring is susceptible to hydrogen pick-up during various production processes, which make material brittle and difficult for fabrication process such as wire drawing and coiling. By studying and optimizing the process parameters of spring manufacturing, the hydrogen pick-up of springs is brought down from 70 ppm to a level of 20 ppm. Garter springs are provided with a hook at each end to enable its assembly to coolant tube in the reactor. The hook portion is very critical in maintaining the integrity of the spring. It is desirable to have the hook portion relieved of all residual stresses. For this purpose manufacturing process has been modified and solutionising was introduced as

HOMOZYGOUS DELETION IN A SMALL-CELL LUNG-CANCER CELL-LINE INVOLVING A 3P21 REGION WITH A MARKED INSTABILITY IN YEAST ARTIFICIAL CHROMOSOMES

NARCIS (Netherlands)

KOK, K; van den Berg, Anke; VELDHUIS, PMJF; VANDERVEEN, AY; FRANKE, M; SCHOENMAKERS, EFPM; HULSBEEK, MMF; VANDERHOUT, AH; DELEIJ, L; VANDEVEN, W; BUYS, CHCM

1994-01-01

All types of lung carcinoma are characterized by a high frequency of loss of sequences from the short arm of chromosome 3, the smallest region of overlap containing D3F15S2 in band p21. Here we characterize a 440-kilobase segment from this region, which we found homozygously deleted in one of our

Hydrogeochemical And Isotopic Investigation Of Nasrettin Hoca Springs, Eskisehir, Turkey

Directory of Open Access Journals (Sweden)

Mehmet ÇELİK

2013-06-01

Full Text Available The aims of this study are to investigate the water quality, the contamination and water-rock interaction of the Nasrettin Hoca springs, with an ultimate aim of establishing protection measures. Within the scope of this study, the springs in and around the catchment area, Bağbaşı springs, Hatip spring, Ali spring, Saracık Fountain and Babadat spring, were investigated. The springs are of Ca-Mg-HCO3 type when basic hydrogeochemical features are considered, are under the influence of marble-limestone and meta ophiolitic units located in the recharge area and are of shallow circulation. The trace element contents of the springs show the influence of the carbonate rocks comprising the reservoir (Sr and the basement rocks (Ni, Al. The protection areas of Nasrettin Hoca springs against contamination are determined as three different zones by considering the hydrogeologic and topographical features of the region and the Turkish Standards

Structural analysis of compression helical spring used in suspension system

Science.gov (United States)

Jain, Akshat; Misra, Sheelam; Jindal, Arun; Lakhian, Prateek

2017-07-01

The main aim of this work has to develop a helical spring for shock absorber used in suspension system which is designed to reduce shock impulse and liberate kinetic energy. In a vehicle, it increases comfort by decreasing amplitude of disturbances and it improves ride quality by absorbing and dissipating energy. When a vehicle is in motion on a road and strikes a bump, spring comes into action quickly. After compression, spring will attempt to come to its equilibrium state which is on level road. Helical springs can be made lighter with more strength by reducing number of coils and increasing the area. In this research work, a helical spring is modeled and analyzed to substitute the existing steel spring which is used in suspension. By using different materials, stress and deflection of helical spring can be varied. Comparability between existing spring and newly replaced spring is used to verify the results. For finding detailed stress distribution, finite element analysis is used to find stresses and deflection in both the helical springs. Finite element analysis is a method which is used to find proximate solutions of a physical problem defined in a finite domain. In this research work, modeling of spring is accomplished using Solid Works and analysis on Ansys.

Hydrogeological characterization of peculiar Apenninic springs

Science.gov (United States)

Cervi, F.; Marcaccio, M.; Petronici, F.; Borgatti, L.

2014-09-01

In the northern Apennines of Italy, springs are quite widespread over the slopes. Due to the outcropping of low-permeability geologic units, they are generally characterized by low-yield capacities and high discharge variability during the hydrologic year. In addition, low-flow periods (discharge lower than 1 Ls-1) reflect rainfall and snowmelt distribution and generally occur in summer seasons. These features strongly condition the management for water-supply purposes, making it particularly complex. The "Mulino delle Vene" springs (420 m a.s.l., Reggio Emilia Province, Italy) are one of the largest in the Apennines for mean annual discharge and dynamic storage and are considered as the main water resource in the area. They flow out from several joints and fractures at the bottom of an arenite rock mass outcrop in the vicinity of the Tresinaro River. To date, these springs have not yet been exploited, as the knowledge about the hydrogeological characteristics of the aquifer and their hydrological behaviour is not fully achieved. This study aims to describe the recharge processes and to define the hydrogeological boundaries of the aquifer. It is based on river and spring discharge monitoring and groundwater balance assessment carried out during the period 2012-2013. Results confirm the effectiveness of the approach, as it allowed the total aliquot of discharge of the springs to be assessed. Moreover, by comparing the observed discharge volume with the one calculated with the groundwater balance, the aquifer has been identified with the arenite slab (mean altitude of 580 m a.s.l.), extended about 5.5 km2 and located 1 km west of the monitored springs.

Near-infrared detection of ammonium minerals at Ivanhoe Hot Springs, Nevada

Science.gov (United States)

Krohn, M. D.

1986-01-01

Airborne Imaging Spectrometer (AIS) data were collected over the fossil hot spring deposit at Ivanhoe, Nevada in order to determine the surface distribution of NH4-bearing minerals. Laboratory studies show that NH4-bearing minerals have characteristic absorption features in the near-infrared (NIR). Ammonium-bearing feldspars and alunites were observed at the surface of Ivanhoe using a hand-held radiometer. However, first look analysis of the AIS images showed that the line was about 500 m east of its intended mark, and the vegetation cover was sufficiently dense to inhibit preliminary attempts at making relative reflectance images for detection of ammonium minerals.

Magnetic spring based on two permanent magnets

International Nuclear Information System (INIS)

Tsivilitsin, V.Yu.; Mil'man, Yu.V.; Goncharuk, V.A.; Bondar, I.B.

2011-01-01

A new type of the magnetic spring construction 'two permanent magnets' has been considered. A mathematical expression for the estimation of a pulling-in force has been offered. This expression is verified experimentally on the produced operating magnetic spring. The theoretical and experimental data are in good accordance. A number of advantages of the magnetic spring over the construction 'permanent magnet - magnetic circuit' such as an insignificant friction force between two magnets and a higher pulling force are discussed.

Induction of Mitochondrial DNA Deletion by Ionizing Radiation in Human Lung Fibroblast IMR-90 Cells

Energy Technology Data Exchange (ETDEWEB)

Eom, Hyeon Soo; Jung, U Hee; Park, Hae Ran; Jo, Sung Kee [Korea Atomic Energy Research Institute, Daejeon (Korea, Republic of)

2009-06-15

Mitochondrial DNA (mtDNA) deletion is a well-known marker for oxidative stress and aging and also contributes to their unfavorable effects in cultured cells and animal tissues. This study was conducted to investigate the effect of ionizing radiation (IR) on mtDNA deletion and the involvement of reactive oxygen species (ROS) in this process in human lung fibroblast (IMR-90) cells. Young IMR-90 cells at population doubling (PD) 39 were irradiated with {sup 137}Cs -rays and the intracellular ROS level was determined by 2',7'-dichlorofluorescein diacetate (DCFH-DA) and mtDNA common deletion (4977bp) was detected by nested PCR. Old cells at PD 55 and H{sub 2}O{sub 2}-treated young cells were compared as the positive control. IR increased the intracellular ROS level and mtDNA 4977 bp deletion in IMR-90 cells dose-dependently. The increases of ROS level and mtDNA deletion were also observed in old cells and H{sub 2}O{sub 2}-treated young cells. To confirm the increased ROS level is essential for mtDNA deletion in irradiated cells, the effects of N-acetylcysteine (NAC) on IRinduced ROS and mtDNA deletion were examined. 5 mM NAC significantly attenuated the IR-induced ROS increase and mtDNA deletion. These results suggest that IR induces the mtDNA deletion and this process is mediated by ROS in IMR-90 cells.

Association of BIM Deletion Polymorphism and BIM-γ RNA Expression in NSCLC with EGFR Mutation.

Science.gov (United States)

Isobe, Kazutoshi; Kakimoto, Atsushi; Mikami, Tetsuo; Kaburaki, Kyohei; Kobayashi, Hiroshi; Yoshizawa, Takahiro; Makino, Takashi; Otsuka, Hajime; Sano, G O; Sugino, Keishi; Sakamoto, Susumu; Takai, Yujiro; Tochigi, Naobumi; Iyoda, Akira; Homma, Sakae

This pilot study assessed the association of BIM deletion polymorphism and BIM RNA isoform in patients with EGFR-positive non-small cell lung cancer (NSCLC). The study included 33 patients with EGFR-positive NSCLC treated with gefitinib. BIM deletion polymorphism and BIM RNA isoform (EL/L/S/γ) were determined by polymerase chain reaction (PCR). BIM-γ expression was significantly higher in patients with BIM deletion polymorphism than among those without BIM deletion polymorphism inside tumors (p=0.038) and around tumors (p=0.0024). Relative BIM-γ expression was significantly higher in patients with BIM deletion polymorphism than among those without BIM deletion polymorphism (p=0.0017). Patients with BIM-γ had significantly shorter progression-free survival than those without BIM-γ (median: 304 vs. 732 days; p=0.023). Expression of BIM-γ mRNA and BIM deletion polymorphism were strongly associated. BIM-γ overexpression may have a role in apoptosis related to EGFR-tyrosine kinase inhibitor. Copyright© 2016, International Institute of Anticancer Research (Dr. John G. Delinasios), All rights reserved.

Delimitation of the Earliness per se D1 (Eps-D1) flowering gene to a subtelomeric chromosomal deletion in bread wheat (Triticum aestivum)

Science.gov (United States)

Zikhali, Meluleki; Wingen, Luzie U.; Griffiths, Simon

2016-01-01

Earliness per se (Eps) genes account for the variation in flowering time when vernalization and photoperiod requirements are satisfied. Genomics and bioinformatics approaches were used to describe allelic variation for 40 Triticum aestivum genes predicted, by synteny with Brachypodium distachyon, to be in the 1DL Eps region. Re-sequencing 1DL genes revealed that varieties carrying early heading alleles at this locus, Spark and Cadenza, carry a subtelomeric deletion including several genes. The equivalent region in Rialto and Avalon is intact. A bimodal distribution in the segregating Spark X Rialto single seed descent (SSD) populations enabled the 1DL QTL to be defined as a discrete Mendelian factor, which we named Eps-D1. Near isogenic lines (NILs) and NIL derived key recombinants between markers flanking Eps-D1 suggest that the 1DL deletion contains the gene(s) underlying Eps-D1. The deletion spans the equivalent of the Triticum monoccocum Eps-A m 1 locus, and hence includes MODIFIER OF TRANSCRIPTION 1 (MOT1) and FTSH PROTEASE 4 (FTSH4), the candidates for Eps-A m 1. The deletion also contains T. aestivum EARLY FLOWERING 3-D1 (TaELF3-D1) a homologue of the Arabidopsis thaliana circadian clock gene EARLY FLOWERING 3. Eps-D1 is possibly a homologue of Eps-B1 on chromosome 1BL. NILs carrying the Eps-D1 deletion have significantly reduced total TaELF3 expression and altered TaGIGANTEA (TaGI) expression compared with wild type. Altered TaGI expression is consistent with an ELF3 mutant, hence we propose TaELF3-D1 as the more likely candidate for Eps-D1. This is the first direct fine mapping of Eps effect in bread wheat. PMID:26476691

Delimitation of the Earliness per se D1 (Eps-D1) flowering gene to a subtelomeric chromosomal deletion in bread wheat (Triticum aestivum).

Science.gov (United States)

Zikhali, Meluleki; Wingen, Luzie U; Griffiths, Simon

2016-01-01

Earliness per se (Eps) genes account for the variation in flowering time when vernalization and photoperiod requirements are satisfied. Genomics and bioinformatics approaches were used to describe allelic variation for 40 Triticum aestivum genes predicted, by synteny with Brachypodium distachyon, to be in the 1DL Eps region. Re-sequencing 1DL genes revealed that varieties carrying early heading alleles at this locus, Spark and Cadenza, carry a subtelomeric deletion including several genes. The equivalent region in Rialto and Avalon is intact. A bimodal distribution in the segregating Spark X Rialto single seed descent (SSD) populations enabled the 1DL QTL to be defined as a discrete Mendelian factor, which we named Eps-D1. Near isogenic lines (NILs) and NIL derived key recombinants between markers flanking Eps-D1 suggest that the 1DL deletion contains the gene(s) underlying Eps-D1. The deletion spans the equivalent of the Triticum monoccocum Eps-A (m) 1 locus, and hence includes MODIFIER OF TRANSCRIPTION 1 (MOT1) and FTSH PROTEASE 4 (FTSH4), the candidates for Eps-A (m) 1. The deletion also contains T. aestivum EARLY FLOWERING 3-D1 (TaELF3-D1) a homologue of the Arabidopsis thaliana circadian clock gene EARLY FLOWERING 3. Eps-D1 is possibly a homologue of Eps-B1 on chromosome 1BL. NILs carrying the Eps-D1 deletion have significantly reduced total TaELF3 expression and altered TaGIGANTEA (TaGI) expression compared with wild type. Altered TaGI expression is consistent with an ELF3 mutant, hence we propose TaELF3-D1 as the more likely candidate for Eps-D1. This is the first direct fine mapping of Eps effect in bread wheat. © The Author 2015. Published by Oxford University Press on behalf of the Society for Experimental Biology.

Bioinspired spring origami

Science.gov (United States)

Faber, Jakob A.; Arrieta, Andres F.; Studart, André R.

2018-03-01

Origami enables folding of objects into a variety of shapes in arts, engineering, and biological systems. In contrast to well-known paper-folded objects, the wing of the earwig has an exquisite natural folding system that cannot be sufficiently described by current origami models. Such an unusual biological system displays incompatible folding patterns, remains open by a bistable locking mechanism during flight, and self-folds rapidly without muscular actuation. We show that these notable functionalities arise from the protein-rich joints of the earwig wing, which work as extensional and rotational springs between facets. Inspired by this biological wing, we establish a spring origami model that broadens the folding design space of traditional origami and allows for the fabrication of precisely tunable, four-dimensional–printed objects with programmable bioinspired morphing functionalities.

Chemical characteristics of the major thermal springs of Montana

Energy Technology Data Exchange (ETDEWEB)

Mariner, R.H.; Presser, T.S.; Evans, W.C.

1976-07-01

Twenty-one thermal springs in western Montana were sampled for chemical, isotope, and gas compositions. Most of the springs issue dilute to slightly saline sodium-bicarbonate waters of neutral to slightly alkaline pH. A few of the springs issue sodium-mixed anion waters of near neutral pH. Fluoride concentrations are high in most of the thermal waters, up to 18 miligrams per litre, while F/Cl ratios range from 3/1 in the dilute waters to 1/10 in the slightly saline waters. Most of the springs are theoretically in thermodynamic equilibrium with respect to calcite and fluorite. Nitrogen is the major gas escaping from most of the hot springs; however, Hunters Hot Springs issue principally methane. The deuterium content of the hot spring waters is typical of meteoric water in western Montana. Geothermal calculations based on silica concentrations and Na-K-Ca ratios indicate that most of the springs are associated with low temperature aquifers (less than 100/sup 0/C). Chalcedony may be controlling the silica concentrations in these low temperature aquifers even in ''granitic'' terranes.

Detection of the deletion on Yp11.2 in a Chinese population.

Science.gov (United States)

Chen, Wenjing; Wu, Weiwei; Cheng, Jianding; Zhang, Yinming; Chen, Yong; Sun, Hongyu

2014-01-01

Sex determination tests based on Amelogenin gene as part of commercial PCR multiplex reaction kits have been widely applied in forensic DNA analysis. Mutations that cause dropout of Y chromosomal Amelogenin gene (AMELY) could lead to errors in gender determination and mixture interpretation. To infer the mechanism and estimate the dropout frequency of AMELY and adjacent Y-STRs, we studied 3 samples with AMELY dropout combined with DYS458 and/or DYS456 and 37 samples with DYS456 dropout. DYS456, DYS458 and AMELY are located in the Yp11.2 region. The singleplex amplification system showed the null alleles could be caused by fragment deletion in Yp11.2 rather than a point mutation in the primer binding region. After detection of the 17 Y-STR and 77 STS markers, the deletion map showed different patterns. The DYS456-AMELY-DYS458 deletion pattern was the largest, breaking from 3.60 Mb to 8.29 Mb in the Y chromosome, and the overall frequency was 0.0077%. The AMELY-DYS458 deletion pattern was broke from 6.74 Mb to 9.17 Mb, with a 0.0155% frequency. The DYS456 negative pattern was concentrated in two main deletion regions, with a 0.8220% frequency. The frequency of all negative pattern was 0.0155%. All the AMELY-DYS458 and DYS456-AMELY-DYS458, and 92% of the DYS456 deletion patterns belonged to Hg O3, the rest belonged to Hg Q. The DYS456 deletion pattern was first reported in Chinese population. The current and previous findings suggest additional gender test for ambiguous sex determination may be required. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Deletion Analysis Of The Duchenne/Becker Muscular Dystrophy Gene Using Multiplex Polymerase Chain Reaction

Directory of Open Access Journals (Sweden)

Dastur R

2003-01-01

Full Text Available The diagnosis of Duchenne Muscular Dystrophy (DMD and Becker Muscular Dystrophy (BMD is mainly based on clinical profile, serum CPK values, muscle biopsy and immunostaining for dystrophin. Most recent and accurate method for diagnosing DMD/BMD is by detection of mutations in the DMD gene. This was done in 100 unrelated patients using 19 exons including the promoter region in two sets of multiplex polymerase chain reaction (PCR. These primers amplify most of the exons in the deletion prone ′hotspot′ regions allowing determination of deletion end point. Intragenic deletions were detected in 74 patients indicating that the use of PCR-based assays will allow deletion detection help in prenatal diagnosis for most of the DMD/BMD patients. The frequency of deletions observed in the present study was 74%.

Report on the FY 1998 survey for preservation of Jozankei Hot Spring. Hot spring variation survey; 1998 nendo Jozankei onsen hozen chosa. Onsen hendo chosa hokokusho

Energy Technology Data Exchange (ETDEWEB)

NONE

1999-09-01

Of the FY 1998 survey for preservation of Jozankei Hot Spring, a survey was conducted with the aim of grasping the state of variation in ingredients of hot spring, etc. in the area and of elucidating the causes of hot spring variation. During the period from October 27, 1998 to August 28, 1999, the following were carried out: sampling of specimens of spring water at 6 spring sources, river water at 2 points and precipitation at 2 points; measurement of temperature, spring temperature, pH, electric conductivity, etc.; analyses of Na, Ca, CL, HCO{sub 3}, SiO{sub 2}, etc. The results of the analysis are as follows. As to spring sources, A-2, A-7 and B-1, the precipitation or river water flow rate seem to largely affect the variation in hot spring measuring values. As to spring resources, A-6 and B-4, the relation with the precipitation or river water flow rate is not clear, but a big change is recognized in the snow-melting season. The tendency to the two variations seems to be caused by the difference between the spring with which the river water is greatly concerned by the crack system of the spring having reached the river and the spring which was closed on the earth surface. The temperature variation of springs was considered to be affected by the river water which flowed into the springs. (NEDO)

Boyer-Moore Algorithm in Retrieving Deleted Short Message Service in Android Platform

Science.gov (United States)

Rahmat, R. F.; Prayoga, D. F.; Gunawan, D.; Sitompul, O. S.

2018-02-01

Short message service (SMS) can be used as digital evidence of disclosure of crime because it can strengthen the charges against the offenders. Criminals use various ways to destroy the evidence, including by deleting SMS. On the Android OS, SMS is stored in a SQLite database file. Deletion of SMS data is not followed by bit deletion in memory so that it is possible to rediscover the deleted SMS. Based on this case, the mobile forensic needs to be done to rediscover the short message service. The proposed method in this study is Boyer-Moore algorithm for searching string matching. An auto finds feature is designed to rediscover the short message service by searching using a particular pattern to rematch a text with the result of the hex value conversion in the database file. The system will redisplay the message for each of a match. From all the testing results, the proposed method has quite a high accuracy in rediscovering the short message service using the used dataset. The search results to rediscover the deleted SMS depend on the possibility of overwriting process and the vacuum procedure on the database file.

Differentiated psychopharmacological treatment in three genetic subtypes of 22q11.2 deletion syndrome

NARCIS (Netherlands)

Verhoeven, W.M.A.; Egger, J.I.M.; Leeuw, N. de

2017-01-01

Introduction: The 22q11.2 deletion syndrome (22q11DS), mostly caused by the common deletion including the TBX- and COMT-genes (LCR22A-D), is highly associated with somatic anomalies. The distal deletion (distal of LCR22D) comprises the MAPK1-gene and is associated with specific heart defects. The

Pemodelan Desain Sol Sepatu dengan Inovasi Penambahan Wave Spring

Directory of Open Access Journals (Sweden)

Redyarsa Dharma Bintara

2015-07-01

Full Text Available Desain sepatu sport berkembang pesat dengan tujuan mengurangi cedera dan meningkatkankenyamanan pengguna. Pengurangan cedera dilakukan dengan cara memperbesar energi yangdiserap dari beban akibat pengguna berlari atau melompat. Pada penelitian ini dilakukanpenambahan wave spring yang digunakan sebagai mekanisme penyerap beban.Pemodelandilakukan pada sol sepatu dengan menggunakan bantuan software finite element method (FEMAnsys 14.5 Academic. Model awal dilakukan untuk mengetahui batas deformasi sol sepatu yangakan dimanfaatkan sebagai input model berikutnya yaitu model dengan diberikan inovasipenambahan wave spring. Analisa difokuskan pada sol sepatu bagian belakang (tumit kaki.Darihasil simulasi, didapatkan bahwa penyerapan energi sol sepatu dengan penambahan wave springlebih besar daripada penyerapan energi sol sepatu tanpa penambahan wave spring, sehinggapenambahan wave spring memungkinkan untuk diaplikasikan pada sol sepatu sport.Kata kunci: Penyerapan energi, wave spring, sol sepatu. Sport shoe design had been developed rapidly with the purpose to reduce injuries and increaseuser comfort. Reduction of injury is done by enlarging the energy absorbed from the user running orjumping load. In this study, the addition of the wave spring is used as the load absorbingmechanism. The shoes sole is modeled by using finite element method (FEM software Ansys 14.5Academic. Initial model was conducted to determine the deformation boundary in soles which willbe used as input to the next model for the wave spring addition innovation. Analysis focused onshoe sole on heel foot. From the simulation results, it was found that the energy absorption shoessoles with the addition of the wave spring is greater than the energy absorption soles without theaddition of wave spring. It can be concluded that the addition of a spring wave can be applied to thesoles of sports shoes.Keywords: Energy absorb, wave spring, shoe sole, deformation boundary

Developmentally programmed DNA deletion in Tetrahymena thermophila by a transposition-like reaction pathway.

Science.gov (United States)

Saveliev, S V; Cox, M M

1996-01-01

We provide a molecular description of key intermediates in the deletion of two internal eliminated sequences (IES elements), the M and R regions, during macronuclear development in Tetrahymena thermophila. Using a variety of PCR-based methods in vivo, double-strand breaks are detected that are generated by hydrolytic cleavage and correspond closely to the observed chromosomal junctions left behind in the macronuclei. The breaks exhibit a temporal and structural relationship to the deletion reaction that provides strong evidence that they are intermediates in the deletion pathway. Breaks in the individual strands are staggered by 4 bp, producing a four nucleotide 5' extension. Evidence is presented that breaks do not occur simultaneously at both ends. The results are most consistent with a deletion mechanism featuring initiation by double-strand cleavage at one end of the deleted element, followed by transesterification to generate the macronuclear junction on one DNA strand. An adenosine residue is found at all the nucleophilic 3' ends used in the postulated transesterification step. Evidence for the transesterification step is provided by detection of a 3' hydroxyl that would be liberated by such a step at a deletion boundary where no other DNA strand ends are detected. Images PMID:8654384

Association analysis of resistance to cereal cyst nematodes (Heterodera avenae) and root lesion nematodes (Pratylenchus neglectus and P. thornei) in CIMMYT advanced spring wheat lines for semi-arid conditions.

Science.gov (United States)

Dababat, Abdelfattah A; Ferney, Gomez-Becerra Hugo; Erginbas-Orakci, Gul; Dreisigacker, Susanne; Imren, Mustafa; Toktay, Halil; Elekcioglu, Halil I; Mekete, Tesfamariam; Nicol, Julie M; Ansari, Omid; Ogbonnaya, Francis

2016-12-01

To identify loci linked to nematode resistance genes, a total of 126 of CIMMYT advanced spring wheat lines adapted to semi-arid conditions were screened for resistance to Heterodera avenae , Pratylenchus neglectus , and P. thornei , of which 107 lines were genotyped with 1,310 DArT. Association of DArT markers with nematode response was analyzed using the general linear model. Results showed that 11 markers were associated with resistance to H. avenae (pathotype Ha21), 25 markers with resistance to P. neglectus , and 9 significant markers were identified to be linked with resistance to P. thornei . In this work we confirmed that chromosome 4A (~90-105 cM) can be a source of resistance to P. thornei as has been recently reported. Other significant markers were also identified on chromosomal regions where no resistant genes have been reported for both nematodes species. These novel QTL were mapped to chromosomes 5A, 6A, and 7A for H. avenae ; on chromosomes 1A, 1B, 3A, 3B, 6B, 7AS, and 7D for P. neglectus ; and on chromosomes 1D, 2A, and 5B for P. thornei and represent potentially new loci linked to resistance that may be useful for selecting parents and deploying resistance into elite germplasm adapted to regions where nematodes are causing problem.

Development of alternative materials for BWR fuel springs

International Nuclear Information System (INIS)

Uruma, Y.; Osato, T.; Yamazaki, K.

2002-01-01

Major sources of radioactivity introduced into reactor water of BWR were estimated fuel crud and in-core materials (especially, fuel springs). Fuel springs are used for fixation of fuel cladding tubes with spacer grid. Those are small parts (total length is only within 25 mm) and so many numbers are loaded simultaneously and then total surfaces area are calculated up to about 200 m 2 . Fuel springs are located under high radiation field and high oxidative environment. Conventional fuel spring is made of alloy-X750 which is one of nickel-based alloy and is reported to show relatively higher corrosion release rate. 58 Co and 60 Co will be released directly into reactor water from intensely radio-activated fuel springs surface and increase radioactivity concentrations in primary coolant. Corrosion release control from fuel springs is an important technical item and a development of alternative material instead of alloy-X750 for fuel spring is a key subject to achieve ultra low man-rem exposure BWR plant. In present work, alloy-X718 which started usage for PWR fuel springs and stainless steel type 316L which has many mechanical property data are picked up for alternative materials and compared their corrosion behaviors with conventional material. Corrosion experiment was conducted under vapor-water two phases flow which is simulated fuel cladding surface boiling condition. After exposure, corrosion film formed under corrosion test was analyzed in detail and corrosion film amount and corrosion release amount are estimated among three materials. (authors)

[Grave's disease in children with 22q11 deletion. Report of three cases].

Science.gov (United States)

Gosselin, J; Lebon-Labich, B; Lucron, H; Marçon, F; Leheup, B

2004-12-01

Hypothyroidism is a well recognized complication of 22q11.2 deletion syndrome. Auto-immune hyperthyroidism is less common. We report three patients with a 22q11.2 deletion and Graves' disease diagnosed at age 17, 14 and 11 years, respectively. The clinical and biological presentation was typical for auto-immune hyperthyroidism. Graves' disease should be periodically sought during the follow-up program of patients with 22q11.2 deletion syndrome.

Valve for closing a steam line

International Nuclear Information System (INIS)

Meyer, W.; Potrykus, G.

1976-01-01

Instead of several control elements, the quick-closing valve, especially in the main-steam line between steam generator and turbine of a power station has the valve cone itself as the only movable part, acting with its inner surface as a piston within a second cylinder space. The valve shaft is at the same time a piston rod with a stepped piston at the upper end. This piston is loaded in a cylinder at the upspace below the valve cover on one hand by a spring, on the other hand by its own medium. Two non-return valves, one of it in a bore of the valve cone, connect the first-mentioned cylinder space with the steam-loaded inlet resp. outlet side of the valve. For controlling the valve, a magnet valve is sufficient. By automatic control of the valve cone coupled with several pistons several control lines can be omitted. There are also no pressurized control lines outside the valve which could be damaged by exterior influences. (ERA) [de

Cytogenetic Evolution of Human Ovarian Cell Lines Associated with Chemoresistance and Loss of Tumorigenicity

Directory of Open Access Journals (Sweden)

Stéphanie Struski

2003-01-01

Full Text Available In order to identify genomic changes associated with a resistant phenotype acquisition, we used comparative genomic hybridization (CGH to compare a human ovarian cell line, Igrov1, and four derived subcell lines, resistant to vincristine and presenting a reversion of malignant properties. Multicolor FISH (Multiplex‐FISH and Spectral Karyotype and conventional FISH are also used to elucidate the karyotype of parental cell line. The drug‐resistant subcell lines displayed many chromosomal abnormalities suggesting the implication of different pathways leading to a multidrug resistance phenotype. However, these cell lines shared two common rearrangements: an unbalanced translocation der(8t(8;13(p22;q? and a deletion of the 11p. These chromosomal imbalances could reflected the acquisition of the chemoresistance (der(8 or the loss of tumorigenicity properties (del(11p. Colour figure can be viewed on http://www.esacp.org/acp/2003/25‐3/struski.htm.

Microscopic modelling of air spring bellows. Automation in the lifetime estimation of air springs; Mikroskopische Balgmodellierung. Automatismen in der Lebensdauerabschaetzung von Luftfedern

Energy Technology Data Exchange (ETDEWEB)

Pham, Tram Anh; Brueger, Thorsten [Vibracoustic GmbH und Co. KG, Hamburg (Germany); Rambacher, Christoph [Professur fuer Maschinenelemente und Produktentwicklung (MRP), Helmut-Schmidt-Univ., Hamburg (HSU) (Germany)

2009-07-01

Because of the many advantages of air springs over conventional springs, they are being increasingly fitted in upper and middle class automobiles. Generally air spring bellows, consisting of reinforcing cords and elastomer, can be simulated using the rebar technique. The following article introduces a method in which the boundary conditions derived from the model simulated with the rebar technique are applied in the air spring bellow ''microscopic model'' which is modelled automatically. The microscopic modelling enables a detailed analysis of stress and strain conditions in the elastomer. With the automated process this method can be applied for the widespread design process for air spring systems. Finally the validation of the method is demonstrated. (orig.)

Implications of Preliminary Gravity and Magnetic Surveys to the Understanding of the Bartlett Springs Fault Zone, Northern California Coast Ranges

Science.gov (United States)

Langenheim, V. E.; Jachens, R. C.; Morin, R. L.; McCabe, C. M.; Page, W. D.

2007-12-01

We use new gravity and magnetic data in the Lake Pillsbury region to help understand the geometry and character of the Bartlett Springs fault zone, one of the three main strands of the San Andreas system north of the San Francisco Bay area. We collected 153 new gravity stations in the Lake Pillsbury region that complement the sparse regional dataset and are used to estimate the thickness of Quaternary deposits in the inferred Gravelly Valley (Lake Pillsbury) pull-apart basin. We also collected 38 line-km of ground magnetic data on roads and 65 line-km by boat on the lake to supplement regional aeromagnetic surveys and to map concealed fault strands beneath the lake. The new gravity data show a significant northwest-striking gravity gradient at the base of which lies the Bartlett Springs fault zone. Superposed on this major east-facing gravity gradient is a 5 mGal low centered on Lake Pillsbury and Gravelly Valley. Inversion of the gravity field for basin thickness assuming a density contrast of 400 kg/m3 indicates the deepest part of the basin is about 400 m and located in the northern part of the valley, although the inversion lacks gravity stations within the lake. The basin is about 3 km wide and 5 km long and basin edges coincide with strands of the Bartlett Springs fault zone. Our gravity data suggest that Potter Valley, which lies between the Maacama and Bartlett Springs faults, is also as much as 400 m deep in the southern part of the valley, although additional data west of the valley would better isolate the gravity low. Geomorphologic characteristics of the valley suggest that this structure has been quiescent during the late Quaternary. Ground magnetic data are very noisy but the data in conjunction with 9.6 km-spaced NURE aeromagnetic lines suggest that regional analog aeromagnetic data flown in 1962 may suffer from location errors. The regional and NURE data show a northwest-striking magnetic high that extends across Lake Pillsbury. The northeast edge

Association between the CCR5 32-bp deletion allele and late onset of schizophrenia

DEFF Research Database (Denmark)

Rasmussen, Henrik Berg; Timm, Sally; Wang, August G

2006-01-01

OBJECTIVE: The 32-bp deletion allele in chemokine receptor CCR5 has been associated with several immune-mediated diseases and might be implicated in schizophrenia as well. METHOD: The authors genotyped DNA samples from 268 schizophrenia patients and 323 healthy subjects. Age at first admission...... of the deletion allele in the latter subgroup of patients. CONCLUSIONS: These findings suggest that the CCR5 32-bp deletion allele is a susceptibility factor for schizophrenia with late onset. Alternatively, the CCR5 32-bp deletion allele may act as a modifier by delaying the onset of schizophrenia without...

Springing Response Due to Directional Wave Field Excitation

DEFF Research Database (Denmark)

Vidic-Perunovic, Jelena; Jensen, Jørgen Juncher

2004-01-01

This paper analyses the wave-induced high-frequency bending moment response of ships, denoted springing. The aim is to predict measured severe springing responses in a large bulk carrier. It is shown that the most important springing contribution is due to the resultant second order excitation...... in multidirectional sea. The incident pressure field from the second order bidirectional wave field is derived, including the non-linear cross-coupling terms between the two wave systems (e.g. wind driven waves and swell). The resulting effect of the super-harmonic cross-coupling interaction terms on the springing...... response is discussed. An example with opposing waves is given, representing probably the 'worst' case for energy exchange between the wave systems. Theoretical predictions of standard deviation of wave- and springing-induced stress amidships are compared with full-scale measurements for a bulk carrier....

Archaeal Nitrification in Hot Springs

Science.gov (United States)

Richter, A.; Daims, H.; Reigstad, L.; Wanek, W.; Wagner, M.; Schleper, C.

2006-12-01

Biological nitrification, i.e. the aerobic conversion of ammonia to nitrate via nitrite, is a major component of the global nitrogen cycle. Until recently, it was thought that the ability to aerobically oxidize ammonia was confined to bacteria of the phylum Proteobacteria. However, it has recently been shown that Archaea of the phylum Crenarchaeota are also capable of ammonia oxidation. As many Crenarchaeota are thermophilic or hyperthermophilic, and at least some of them are capable of ammonia oxidation we speculated on the existence of (hyper)thermophilic ammonia-oxidizing archaea (AOA). Using PCR primers specifically targeting the archaeal ammonia monooxygenase (amoA) gene, we were indeed able to confirm the presence of such organisms in several hot springs in Reykjadalur, Iceland. These hot springs exhibited temperatures well above 80 °C and pH values ranging from 2.0 to 4.5. To proof that nitrification actually took place under these extreme conditions, we measured gross nitrification rates by the isotope pool dilution method; we added 15N-labelled nitrate to the mud and followed the dilution of the label by nitrate production from ammonium either in situ (incubation in the hot spring) or under controlled conditions in the laboratory (at 80 °C). The nitrification rates in the hot springs ranged from 0.79 to 2.22 mg nitrate-N per L of mud and day. Controls, in which microorganisms were killed before the incubations, demonstrated that the nitrification was of biological origin. Addition of ammonium increased the gross nitrification rate approximately 3-fold, indicating that the nitrification was ammonium limited under the conditions used. Collectively, our study provides evidence that (1) AOA are present in hot springs and (2) that they are actively nitrifying. These findings have major implications for our understanding of nitrogen cycling of hot environments.

Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms

Directory of Open Access Journals (Sweden)

Joseph Tripodi

2010-09-01

Full Text Available Joseph Tripodi1, Ronald Hoffman1, Vesna Najfeld2, Rona Weinberg31The Myeloproliferative Disorders Program, Tisch Cancer Institute, Department of Medicine and 2Department of Medicine and Pathology, Mount Sinai School of Medicine, 3The Myeloproliferative Disorders Program, Cellular Therapy Laboratory, The New York Blood Center, New York, NY, USAAbstract: The Philadelphia chromosome (Ph-negative myeloproliferative neoplasms (MPNs, including polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a group of clonal hematopoietic stem cell disorders with overlapping clinical and cytogenetic features and a variable tendency to evolve into acute leukemia. These diseases not only share overlapping chromosomal abnormalities but also a number of acquired somatic mutations. Recently, mutations in a putative tumor suppressor gene, ten-eleven translocation 2 (TET2 on chromosome 4q24 have been identified in 12% of patients with MPN. Additionally 4q24 chromosomal rearrangements in MPN, including TET2 deletions, have also been observed using conventional cytogenetics. The goal of this study was to investigate the frequency of genomic TET2 rearrangements in MPN using fluorescence in situ hybridization as a more sensitive method for screening and identifying genomic deletions. Among 146 MPN patients, we identified two patients (1.4% who showed a common 4q24 deletion, including TET2. Our observations also indicated that the frequency of TET2 deletion is increased in patients with an abnormal karyotype (5%.Keywords: TET2, myeloproliferative neoplasms, fluorescence in situ hybridization, cytogenetics

Microbiological studies of hot springs in India: a review.

Science.gov (United States)

Poddar, Abhijit; Das, Subrata K

2018-01-01

The earliest microbiological studies on hot springs in India date from 2003, a much later date compared to global attention in this striking field of study. As of today, 28 out of 400 geothermal springs have been explored following both culturable and non-culturable approaches. The temperatures and pH of the springs are 37-99 °C and 6.8-10, respectively. Several studies have been performed on the description of novel genera and species, characterization of different bio-resources, metagenomics of hot spring microbiome and whole genome analysis of few isolates. 17 strains representing novel species and many thermostable enzymes, including lipase, protease, chitinase, amylase, etc. with potential biotechnological applications have been reported by several authors. Influence of physico-chemical conditions, especially that of temperature, on shaping the hot spring microbiome has been established by metagenomic investigations. Bacteria are the predominant life forms in all the springs with an abundance of phyla Firmicutes, Proteobacteria, Actinobacteria, Thermi, Bacteroidetes, Deinococcus-Thermus and Chloroflexi. In this review, we have discussed the findings on all microbiological studies that have been carried out to date, on the 28 hot springs. Further, the possibilities of extrapolating these studies for practical applications and environmental impact assessment towards protection of natural ecosystem of hot springs have also been discussed.