57 results on '"G, Bruns"'
Search Results
2. Gravitational Starlight Deflection Measurements during the 21 August 2017 Total Solar Eclipse
- Author
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Donald G. Bruns
- Subjects
Accuracy and precision ,Physics and Astronomy (miscellaneous) ,Solar eclipse ,media_common.quotation_subject ,FOS: Physical sciences ,Astrophysics::Cosmology and Extragalactic Astrophysics ,General Relativity and Quantum Cosmology (gr-qc) ,01 natural sciences ,Star catalogue ,General Relativity and Quantum Cosmology ,010309 optics ,Gravitation ,Deflection (engineering) ,0103 physical sciences ,Astrophysics::Solar and Stellar Astrophysics ,010303 astronomy & astrophysics ,Instrumentation and Methods for Astrophysics (astro-ph.IM) ,Astrophysics::Galaxy Astrophysics ,media_common ,Physics ,Astrophysics::Instrumentation and Methods for Astrophysics ,Astronomy ,Starlight ,Sky ,Refracting telescope ,Physics::Space Physics ,Astrophysics::Earth and Planetary Astrophysics ,Astrophysics - Instrumentation and Methods for Astrophysics - Abstract
Precise starlight positions near the sun were measured during the 21 August 2017 total solar eclipse in order to measure their gravitational deflections. The equipment, procedures, and analysis are described in detail. A portable refractor, a CCD camera, and a computerized mount were set up in Wyoming. Detailed calibrations were necessary to improve accuracy and precision. Nighttime measurements taken just before the eclipse provided cubic optical distortion corrections. Calibrations based on star field images 7.4 deg on both sides of the sun taken during totality gave linear and quadratic plate constants. A total of 45 images of the sky surrounding the Sun were acquired during the middle part of totality, with an integrated exposure of 22 seconds. The deflection analysis depended on accurate star positions from the USNO's UCAC5 star catalog. The final result was a deflection coefficient L = 1.752 arcsec, compared to the theoretical value of L = 1.751 arcsec, with an uncertainty of only 3%., Comment: 21 pages, 11 figures, 6 tables. Submitted to Classical and Quantum Gravity
- Published
- 2018
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3. Sky brightness and color measurements during the 21 August 2017 total solar eclipse
- Author
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Donald G. Bruns and Ronald D. Bruns
- Subjects
Brightness ,Solar eclipse ,media_common.quotation_subject ,Astrophysics::Cosmology and Extragalactic Astrophysics ,01 natural sciences ,Optics ,Sky brightness ,0103 physical sciences ,Astrophysics::Solar and Stellar Astrophysics ,Electrical and Electronic Engineering ,010306 general physics ,Engineering (miscellaneous) ,Image resolution ,Astrophysics::Galaxy Astrophysics ,media_common ,Physics ,010308 nuclear & particles physics ,business.industry ,Astrophysics::Instrumentation and Methods for Astrophysics ,Diffuse sky radiation ,Astronomy ,Atomic and Molecular Physics, and Optics ,Sky ,Color filter array ,Astrophysics::Earth and Planetary Astrophysics ,business ,Atmospheric optics - Abstract
The sky brightness was measured during the partial phases and during totality of the 21 August 2017 total solar eclipse. A tracking CCD camera with color filters and a wide-angle lens allowed measurements across a wide field of view, recording images every 10 s. The partially and totally eclipsed Sun was kept behind an occulting disk attached to the camera, allowing direct brightness measurements from 1.5° to 38° from the Sun. During the partial phases, the sky brightness as a function of time closely followed the integrated intensity of the unobscured fraction of the solar disk. A redder sky was measured close to the Sun just before totality, caused by the redder color of the exposed solar limb. During totality, a bluer sky was measured, dimmer than the normal sky by a factor of 10,000. Suggestions for enhanced measurements at future eclipses are offered.
- Published
- 2018
4. A solid‐state low‐voltage Tesla coil demonstrator
- Author
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Donald G. Bruns
- Subjects
Physics ,Tesla coil ,business.industry ,Electrical engineering ,General Physics and Astronomy ,Hardware_PERFORMANCEANDRELIABILITY ,Spark gap ,Photovoltaic effect ,Capacitance ,law.invention ,Stack (abstract data type) ,law ,Hardware_INTEGRATEDCIRCUITS ,Oscilloscope ,business ,Low voltage ,Electronic circuit - Abstract
A low‐voltage demonstration Tesla coil using a solid‐state photovoltaic relay to replace the conventional spark gap has been analyzed and then built. This relay incorporates an isolated LED to illuminate a silicon photovoltaic stack which drives a bidirectional FET. Component values for the inductances and capacitances have been determined theoretically from measured parameters. Computer simulation by integrating the coupled circuit equations shows excellent agreement with oscilloscope traces. Energy transfer between the primary and secondary circuits is demonstrated, along with continuous secondary oscillations after the primary circuit is interrupted. This low‐voltage design is easier to build and diagnose than high‐voltage Tesla coils.
- Published
- 1992
5. Structure, chromosome location, and expression of the human smooth muscle (enteric type) gamma-actin gene: evolution of six human actin genes
- Author
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Takeo Kakunaga, H Ueyama, Y Manabe, N Kanda, Shinji Kamada, Kazuo Kurokawa, G Bruns, and Takeshi Miwa
- Subjects
Genetics ,Gene isoform ,Exon ,Myosin ,Nucleic acid sequence ,Intron ,Gene family ,macromolecular substances ,Cell Biology ,Biology ,Molecular Biology ,Gene ,Actin - Abstract
Recombinant phages that carry the human smooth muscle (enteric type) gamma-actin gene were isolated from human genomic DNA libraries. The amino acid sequence deduced from the nucleotide sequence matches those of cDNAs but differs from the protein sequence previously reported at one amino acid position, codon 359. The gene containing one 5' untranslated exon and eight coding exons extends for 27 kb on human chromosome 2. The intron between codons 84 and 85 (site 3) is unique to the two smooth muscle actin genes. In the 5' flanking region, there are several CArG boxes and E boxes, which are regulatory elements in some muscle-specific genes. Hybridization with the 3' untranslated region, which is specific for the human smooth muscle gamma-actin gene, suggests the single gene in the human genome and specific expressions in enteric and aortic tissues. From characterized molecular structures of the six human actin isoform genes, we propose a hypothesis of evolutionary pathway of the actin gene family. A presumed ancestral actin gene had introns at least sites 1, 2, and 4 through 8. Cytoplasmic actin genes may have directly evolved from it through loss of introns at sites 5 and 6. However, through duplication of the ancestral actin gene with substitutions of many amino acids, a prototype of muscle actin genes had been created. Subsequently, striated muscle actin and smooth muscle actin genes may have evolved from this prototype by loss of an intron at site 4 and acquisition of a new intron at site 3, respectively.
- Published
- 1991
6. National Ignition Facility (NIF) wavefront control system
- Author
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Richard A. Sacks, Donald G. Bruns, John S. Toeppen, R. Zacharias, Bruce W. Woods, Mark A. Henesian, Janice K. Lawson, Lewis Van Atta, Scott Winters, Andrew Grey, Jeffrey A. Koch, Erlan S. Bliss, Carlo LaFiandra, J. Thaddeus Salmon, and Mark Feldman
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Wavefront ,Physics ,business.industry ,Astrophysics::Instrumentation and Methods for Astrophysics ,Physics::Optics ,Wavefront sensor ,Laser ,Deformable mirror ,law.invention ,Optics ,law ,Focal Spot Size ,business ,Adaptive optics ,National Ignition Facility ,Beam (structure) - Abstract
A wavefront control system will be employed on NIF to correct beam aberrations that otherwise would limit the minimum target focal spot size. For most applications, NIF requires a focal spot that is a few times the diffraction limit. Sources of aberrations that must be corrected include prompt pump-induced distortions in the laser slabs, thermal distortions in the laser slabs from previous shots, manufacturing figure errors in the optics, beam off-axis effects, gas density variations, and gravity, mounting, and coating-induced optic distortions.
- Published
- 1999
7. Die Erztafeln von Ofuna
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G. Bruns
- Subjects
History ,Law - Abstract
n/a
- Published
- 1876
8. Die Pompejanischen Wachstafeln
- Author
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G. Bruns
- Subjects
History ,Law - Abstract
n/a
- Published
- 1878
9. The Theory of Sets and Transfinite Arithmetic, by Alexander Abian. W.B. Saunders Company, Philadelphia and London, 1965. ix+406 pages. $10.80
- Author
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G. Bruns
- Subjects
Discrete mathematics ,General Mathematics ,Mathematics ,Transfinite number - Published
- 1967
10. Spontane Autoimmunkrankheit der Ratte
- Author
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G. Bruns
- Subjects
Gynecology ,medicine.medical_specialty ,business.industry ,Drug Discovery ,Molecular Medicine ,Medicine ,General Medicine ,business ,Genetics (clinical) - Abstract
Die bei Ratten haufig zu beobachtende chronic respiratory disease erweist sich nach neueren pathologisch-anatomischen Befunden einer chronisch proliferierenden intracapillaren Glomerulonephritis und Panangiitis als Autoimmunkrankheit. Morphologisch last sie sich von der slow virus disease abgrenzen, wahrend deutliche Parallelen zur experimentellen Autoimmunnephritis und Wegenerschen Granulomatose bestehen.
- Published
- 1970
11. Lex metalli Vipascensis
- Author
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G. Bruns
- Subjects
History ,Law - Abstract
n/a
- Published
- 1877
12. 1. Geschichte und Quellen des römischen Rechts
- Author
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C. G. Bruns
- Published
- 1904
13. Durchschnittsdarstellungen von Filtern.
- Author
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G., Bruns. and G., Bruns.
14. Universal Algebra, by G. Grätzer. xvi+368 pages. Van Nostrand, Princeton, N.J., Toronto, London, Melbourne, 1968. Cdn. $15
- Author
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G. Bruns
- Subjects
General Mathematics ,Universal algebra ,Humanities ,Mathematics - Published
- 1972
15. Boolean Algebras, by Roman Sikorski. Ergebnisse der Mathematik und ihrer Grenzgebiete (New Ser.) Bd. 25. Second Edition, Springer-Verlag Berlin, Gottingen, Heidelberg. Academic Press Inc., New York, 1964. x + 237 pages. $9.50
- Author
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G. Bruns
- Subjects
General Mathematics ,Humanities ,Mathematics - Published
- 1966
16. Zur Wirkung des DL-Glycerinaldehyds auf das Ehrlich-Ascites-Carcinom der wei�en Maus
- Author
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G. Bruns, W. Jungstand, and H. Knöll
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Chemistry ,General Medicine ,Ecology, Evolution, Behavior and Systematics - Published
- 1964
17. The Chocoholic Connoisseur
- Author
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Donald G. Bruns and Merry Eve Makela
- Subjects
media_common.quotation_subject ,General Engineering ,Art history ,Art ,media_common - Published
- 1985
18. Schatzkammer der Antike. By G. Bruns. Pp. 69; 55 text figs. + map. Berlin: Gebr. Mann, 1946
- Author
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G. Bruns and Charles Seltman
- Subjects
Linguistics and Language ,Archeology ,Literature and Literary Theory ,Visual Arts and Performing Arts ,Classics ,Language and Linguistics - Published
- 1949
19. Abstract Sets and Finite Ordinals, by G. B. Keene. International Series of Monographs in Pure and Applied Mathematics, Vol. 23. Pergamon Press, 1961. x + 106 pages. $3,50
- Author
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G. Bruns
- Subjects
Discrete mathematics ,Series (mathematics) ,General Mathematics ,Mathematics - Published
- 1964
20. Einführung in die Verbandstheorie. by H. Hermes. Die Grundlehren der mathematischen Wissenschaften in Einzeldarstellungen, Bd. 73. Zweite, erw. Auflage. Springer-Verlag, Berlin-Heidelberg-New York (1967). xii+209 pp. DM 46
- Author
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G. Bruns
- Subjects
General Mathematics ,Humanities ,Mathematics - Published
- 1970
21. Die Membranh�lle der Pneumocystis Carinii
- Author
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G. Bruns
- Subjects
Chemistry ,General Medicine ,Ecology, Evolution, Behavior and Systematics - Published
- 1955
22. Logic and Boolean Algebra, by B. H. Arnold. Prentice-Hall, Inc., Englewood Cliffs, N.J., 1962. vi + 144 pages. $9. 00
- Author
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G. Bruns
- Subjects
Discrete mathematics ,symbols.namesake ,General Mathematics ,symbols ,Boolean algebra ,Mathematics - Published
- 1964
23. Re-analyzing and confirming a differential use of redintegration in students with mild and borderline intellectual disabilities.
- Author
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Bruns G
- Abstract
While numerous studies on verbal working memory have investigated the capacity of the phonological loop and the effectiveness of rehearsal as one core process for maintaining the memory trace, the reconstruction of the memory trace from long-term memory, called redintegration, has been studied less thoroughly. This holds particularly for the population of students with special educational learning needs and mild and borderline intellectual disabilities (MBID). In a previous study, we found a differential developmental relation between the effectiveness of redintegration and vocabulary size, counter-intuitively suggesting that students with MBID tend to show less effective redintegration with higher vocabulary size. However, differential item functioning (DIF) in the picture naming task may have biased the result. Therefore, the current study is a re-analysis of this interaction controlling for DIF in the vocabulary measure. To this end, the items of the picture naming task ( k = 95) were analyzed through a Rasch model, and k = 29 biased items were excluded. The resulting corrected vocabulary score was used to predict the redintegration effectiveness, comparing students with and without MBID. The interaction remains significant, supporting the original finding that students with MBID have a differential developmental pattern and are less able to make adequate use of a growing vocabulary when reconstructing traces in their working memory. Implications of this result for the understanding of MBID and further research directions are discussed., Competing Interests: The author declares that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Bruns.)
- Published
- 2024
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24. Men's Access to Outpatient Psychosocial Cancer Counseling.
- Author
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Singer S, Wünsch A, Ihrig A, Bruns G, Holz F, Jakob J, Besseler M, Engesser D, Blettner M, König J, and Bayer O
- Subjects
- Humans, Male, Female, Counseling, Germany epidemiology, Outpatients, Neoplasms epidemiology, Neoplasms therapy
- Abstract
Background: Men make use of outpatient cancer counseling less commonly than women, even when they stand to benefit from it., Methods: In a cluster-randomized trial (registered under DRKS00032181), we studied whether measures on multiple levels (information for referring physicians, public information, structural changes, offerings specifically for male patients) over a period of 12 months would be able to increase the percentage of men among patients seeking outpatient cancer counseling (primary endpoint, initial contact; secondary endpoint, all contacts). The intervention effect was quantified by the fitting of generalized linear mixed models to obtain an odds ratio, which was adjusted for cluster structure and for the percentages of first contacts and of all contacts during the 12 months before the start of the intervention., Results: In 12 regions of Germany (6 each in the intervention arm and the control arm), 11 986 people had first contacts with outpatient cancer counseling, 6004 of them during the intervention phase. The percentage accounted for by men was 30.7% in the intervention arm and 25.7% in the control arm, corresponding to a statistically insignificant model-based adjusted odds ratio (OR) of 1.2 (95% confidence interval [1.0; 1.4], p = 0.08) for the primary endpoint. There were a total of 51 842 counseling sessions (both initial contacts and subsequent contacts), 26 651 of them in the intervention phase. The percentage of these that was accounted for by men was 27.6% in the intervention arm and 22.2% in the control arm; the adjusted OR for this secondary endpoint was 1.3 [1.1; 1.6], p = 0.01)., Conclusion: The targeted implementation of malespecific measures on multiple levels can increase, by a small amount, the percentage of men among persons seeking outpatient cancer counseling.
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- 2024
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25. Cancer rehabilitation support by cancer counselling centres (CARES): study protocol of a quasi-experimental feasibility study.
- Author
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Hiltrop K, Heidkamp P, Breidenbach C, Kowalski C, Bruns G, and Ernstmann N
- Subjects
- Humans, Feasibility Studies, Germany, Return to Work, Counseling, Neoplasms psychology
- Abstract
Introduction: While maintaining or restoring work ability after a cancer diagnosis is an essential aim of the rehabilitation process for working-age patients, problems can arise during the return to work (RTW) or when retaining work. Counselling could provide support for patients with or after cancer with employment-related questions (eg, questions related to RTW and work retention). Outpatient psychosocial cancer counselling centres in Germany offer counselling on work-related questions; however, resources for this are limited. This protocol presents a feasibility study of an intensified needs-based counselling intervention that supports those seeking employment-related advice., Methods and Analysis: The CARES (cancer rehabilitation support by cancer counselling centres) project is a feasibility study for a newly developed counselling intervention. The intervention is being developed as part of the project and piloted in about 20 outpatient cancer counselling centres. The CARES study has a quasi-experimental pre-post design with a control cohort. First, patients who undergo regular counselling are recruited. Second, after the counsellors have been trained for the newly developed intervention, participants for the intervention group are recruited from the cancer counselling centres. Quantitative and formative evaluations will be performed in accordance with the existing guidelines. The quantitative evaluation comprises three patient surveys (at the beginning of the counselling process, 3 months into the counselling process and, for the intervention group, at the end of the counselling process) and routine data of the counselling process. The formative evaluation includes interviews with patients, counsellors and other stakeholders, as well as participatory observations of counselling sessions., Ethics and Dissemination: Approval has been obtained from the ethics committee of the Medical Faculty of the University Bonn (061/22; 09.04.2022). A data protection concept ensures adherence to data protection regulations for the handled data. The dissemination strategies include discussing the results with the cancer counselling centres., Trial Registration Number: German Clinical Trials Register (DRKS00028121); Pre-results., Competing Interests: Competing interests: CB and CK are employed by the German Cancer Society (Deutsche Krebsgesellschaft). The remaining authors declare no conflicts of interest., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2023
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26. Neural Memory Decoding with EEG Data and Representation Learning.
- Author
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Bruns G, Haidar M, and Rubino F
- Abstract
We describe a method for the neural decoding of memory from EEG data. Using this method, a concept being recalled can be identified from an EEG trace with an average top-1 accuracy of about 78.4% (chance 4%). The method employs deep representation learning with supervised contrastive loss to map an EEG recording of brain activity to a low-dimensional space. Because representation learning is used, concepts can be identified even if they do not appear in the training data set. However, reference EEG data must exist for each such concept. We also show an application of the method to the problem of information retrieval. In neural information retrieval, EEG data is captured while a user recalls the contents of a document, and a list of links to predicted documents is produced.
- Published
- 2023
27. Verbal Working Memory Processes in Students With Mild and Borderline Intellectual Disabilities: Differential Developmental Trajectories for Rehearsal and Redintegration.
- Author
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Bruns G, Ehl B, and Grosche M
- Abstract
In verbal working memory, two processes serve to retain a fading memory trace: subvocal rehearsal and lexical redintegration. While recent studies on students with mild and borderline intellectual disabilities (MBID) have yielded mixed results on rehearsal, redintegration has not been researched in MBID, yet. Furthermore, most studies have used a group-matched design which, due to methodological constraints, can only distinguish between two different development patterns. Thus, we study both rehearsal and redintegration in students with MBID using developmental trajectories that have greater potential for identifying differential developmental patterns than traditional group-matching approaches. We investigate whether three aspects in working memory develop differently in students with MBID in comparison to typically developing students: (a) the general capacity of the phonological loop, and the effectiveness of (b) rehearsal, and (c) redintegration. We use three different developmental indicators to compare trajectories: chronological age, cognitive capacity, and vocabulary size. N = 210 students (87 students with MBID, 123 typically developing students) completed working memory span tasks with short and long (1- vs. 3-syllable) real words and pseudowords. The effect for word length (short vs. long) measures rehearsal, and the lexicality effect (real words vs. pseudowords) measures redintegration. Results show that developmental trajectories reveal an intercept difference but no slowed rate in rehearsal, and no impairment in redintegration. However, concerning the developmental relation between redintegration and vocabulary size, students with MBID reveal a differential pattern as redintegration appears higher for students with small vocabulary size, but unexpectedly decreases as vocabulary size increases. We conclude that students with MBID show a delayed onset in the development of capacity of the phonological loop and rehearsal and that they do not catch up in their development. Redintegration does not seem to be impaired in relation to age and cognitive capacity. However, the differential relation of redintegration with vocabulary size calls for further research. While impaired subvocal rehearsal appears to be connected to the developmental problems of students with MBID, lexical redintegration seems to be intact in relation to chronological age and cognitive capacity, making it a possible area of strength.
- Published
- 2019
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28. 25 years of serving the community with ribosomal RNA gene reference databases and tools.
- Author
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Glöckner FO, Yilmaz P, Quast C, Gerken J, Beccati A, Ciuprina A, Bruns G, Yarza P, Peplies J, Westram R, and Ludwig W
- Subjects
- Animals, Genes, Archaeal genetics, Genes, Bacterial genetics, Sequence Alignment, Computational Biology, Database Management Systems, Databases, Nucleic Acid, Genes, rRNA genetics, Software
- Abstract
SILVA (lat. forest) is a comprehensive web resource, providing services around up to date, high-quality datasets of aligned ribosomal RNA gene (rDNA) sequences from the Bacteria, Archaea, and Eukaryota domains. SILVA dates back to the year 1991 when Dr. Wolfgang Ludwig from the Technical University Munich started the integrated software workbench ARB (lat. tree) to support high-quality phylogenetic inference and taxonomy based on the SSU and LSU rDNA marker genes. At that time, the ARB project maintained both, the sequence reference datasets and the software package for data analysis. In 2005, with the massive increase of DNA sequence data, the maintenance of the software system ARB and the corresponding rRNA databases SILVA was split between Munich and the Microbial Genomics and Bioinformatics Research Group in Bremen. ARB has been continuously developed to include new features and improve the usability of the workbench. Thousands of users worldwide appreciate the seamless integration of common analysis tools under a central graphical user interface, in combination with its versatility. The first SILVA release was deployed in February 2007 based on the EMBL-EBI/ENA release 89. Since then, full SILVA releases offering the database content in various flavours are published at least annually, complemented by intermediate web-releases where only the SILVA web dataset is updated. SILVA is the only rDNA database project worldwide where special emphasis is given to the consistent naming of clades of uncultivated (environmental) sequences, where no validly described cultivated representatives are available. Also exclusive for SILVA is the maintenance of both comprehensive aligned 16S/18S rDNA and 23S/28S rDNA sequence datasets. Furthermore, the SILVA alignments and trees were designed to include Eukaryota, another unique feature among rDNA databases. With the termination of the European Ribosomal RNA Database Project in 2007, the SILVA database has become the authoritative rDNA database project for Europe. The application spectrum of ARB and SILVA ranges from biodiversity analysis, medical diagnostics, to biotechnology and quality control for academia and industry., (Copyright © 2017 The Author(s). Published by Elsevier B.V. All rights reserved.)
- Published
- 2017
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29. Changes in prefrontal-limbic function in major depression after 15 months of long-term psychotherapy.
- Author
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Buchheim A, Viviani R, Kessler H, Kächele H, Cierpka M, Roth G, George C, Kernberg OF, Bruns G, and Taubner S
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- Adolescent, Adult, Child, Female, Humans, Magnetic Resonance Imaging, Male, Neuroimaging, Time Factors, Young Adult, Depressive Disorder physiopathology, Depressive Disorder therapy, Limbic System physiopathology, Prefrontal Cortex physiopathology, Psychotherapy
- Abstract
Neuroimaging studies of depression have demonstrated treatment-specific changes involving the limbic system and regulatory regions in the prefrontal cortex. While these studies have examined the effect of short-term, interpersonal or cognitive-behavioural psychotherapy, the effect of long-term, psychodynamic intervention has never been assessed. Here, we investigated recurrently depressed (DSM-IV) unmedicated outpatients (N = 16) and control participants matched for sex, age, and education (N = 17) before and after 15 months of psychodynamic psychotherapy. Participants were scanned at two time points, during which presentations of attachment-related scenes with neutral descriptions alternated with descriptions containing personal core sentences previously extracted from an attachment interview. Outcome measure was the interaction of the signal difference between personal and neutral presentations with group and time, and its association with symptom improvement during therapy. Signal associated with processing personalized attachment material varied in patients from baseline to endpoint, but not in healthy controls. Patients showed a higher activation in the left anterior hippocampus/amygdala, subgenual cingulate, and medial prefrontal cortex before treatment and a reduction in these areas after 15 months. This reduction was associated with improvement in depressiveness specifically, and in the medial prefrontal cortex with symptom improvement more generally. This is the first study documenting neurobiological changes in circuits implicated in emotional reactivity and control after long-term psychodynamic psychotherapy.
- Published
- 2012
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30. A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.
- Author
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Fujita R, Bingham E, Forsythe P, McHenry C, Aita V, Navia BA, Dry K, Segal M, Devoto M, Bruns G, Wright AF, Ott J, Sieving PA, and Swaroop A
- Subjects
- Adult, Base Sequence, Chromosome Mapping, DNA Primers genetics, Electroretinography, Female, Genetic Markers, Humans, Lod Score, Male, Middle Aged, Molecular Sequence Data, Pedigree, Retinitis Pigmentosa physiopathology, Sequence Deletion, Genetic Linkage, Recombination, Genetic, Retinitis Pigmentosa genetics, X Chromosome genetics
- Abstract
Genetic loci for X-linked retinitis pigmentosa (XLRP) have been mapped between Xp11.22 and Xp22.13 (RP2, RP3, RP6, and RP15). The RP3 gene, which is responsible for the predominant form of XLRP in most Caucasian populations, has been localized to Xp21.1 by linkage analysis and the map positions of chromosomal deletions associated with the disease. Previous linkage studies have suggested that RP3 is flanked by the markers DXS1110 (distal) and OTC (proximal). Patient BB was thought to have RP because of a lesion at the RP3 locus, in addition to chronic granulomatous disease, Duchenne muscular dystrophy (DMD), mild mental retardation, and the McLeod phenotype. This patient carried a deletion extending approximately 3 Mb from DMD in Xp21.3 to Xp21.1, with the proximal breakpoint located approximately 40 kb centromeric to DXS1110. The RP3 gene, therefore, is believed to reside between DXS1110 and the proximal breakpoint of the BB deletion. In order to refine the location of RP3 and to ascertain patients with RP3, we have been analyzing several XLRP families for linkage to Xp markers. Linkage analysis in an American family of 27 individuals demonstrates segregation of XLRP with markers in Xp21.1, consistent with the RP3 subtype. One affected mate shows a recombination event proximal to DXS1110. Additional markers within the DXS1110-OTC interval show that the crossover is between two novel polymorphic markers, DXS8349 and M6, both of which are present in BB DNA and lie centromeric to the proximal breakpoint. This recombination places the XLRP mutation in this family outside the BB deletion and redefines the location of RP3.
- Published
- 1996
31. The gene encoding protein kinase SEK1 maps to mouse chromosome 11 and human chromosome 17.
- Author
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White RA, Hughes RT, Adkison LR, Bruns G, and Zon LI
- Subjects
- Alleles, Animals, Base Sequence, Conserved Sequence, Cricetinae, Crosses, Genetic, Genetic Linkage, Humans, Hybrid Cells, In Situ Hybridization, Fluorescence, Mice, Mice, Inbred C57BL, Muridae, Polymerase Chain Reaction, Protein Kinases biosynthesis, Chromosome Mapping, Chromosomes, Human, Pair 17, MAP Kinase Kinase 4, Mitogen-Activated Protein Kinase Kinases, Protein Kinases genetics
- Abstract
We report the mapping of the human and mouse genes encoding SEK1 (SAPK/ERK kinase-1), a newly identified protein kinase that is a potent physiological activator of the stress-activated protein kinases. The human SERK1 gene was assigned to human chromosome 17 using genomic DNAs from human-rodent somatic cell hybrid lines. A specific human PCR product was observed solely in the somatic cell line containing human chromosome 17. The mouse Serk1 gene was mapped to chromosome 11, closely linked to D11Mit4, using genomic DNAs from a (C57BL/6J x Mus spretus)F1 x M. spretus backcross.
- Published
- 1996
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32. An integrated YAC clone contig for the WAGR region on human chromosome 11p13-p14.1.
- Author
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Gawin B, Klamt B, König A, Thäte C, Le Paslier D, Chumakov I, Bhogal R, Zehetner G, Bruns G, and Gessler M
- Subjects
- Base Sequence, Chloramphenicol O-Acetyltransferase genetics, Cloning, Molecular methods, DNA Probes, Databases, Factual, Gene Library, Genetic Markers, Humans, In Situ Hybridization, Molecular Sequence Data, Proteins genetics, Chromosome Mapping, Chromosomes, Artificial, Yeast chemistry, Chromosomes, Artificial, Yeast genetics, Chromosomes, Human, Pair 11, Homeodomain Proteins, WAGR Syndrome genetics
- Abstract
The WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) deletion region on chromosome 11p13 has been extensively characterized by deletion analysis and long-range restriction mapping. A dense probe set is available for this genomic region, which harbors a number of disease gene loci, some of which still are not cloned. The identification of candidates for these genes would be greatly facilitated by a complete gene map for this chromosomal segment. As an initial step toward this goal, we have isolated the entire region in 58 overlapping YAC clones. The contig spanning 8 Mb from RAG1 to KCNA4 has been assembled by STS and probe content mapping for 76 loci with an average spacing of about 100 kb. A subset of clones has been analyzed by PFG analysis to position these within the known physical map. Common microsatellite markers permit an alignment of the YAC contig with the genetic and radiation hybrid maps of chromosome 11. Ten known genes, some with much more refined map positions, are placed in the contig. The severalfold coverage of 11p13-p14.1 provides a reliable resource for the future development of a complete gene map of this region.
- Published
- 1995
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33. Assignment of human myocyte-specific enhancer binding factor 2C (hMEF2C) to human chromosome 5q14 and evidence that MEF2C is evolutionarily conserved.
- Author
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Krainc D, Haas M, Ward DC, Lipton SA, Bruns G, and Leifer D
- Subjects
- Animals, Base Sequence, Brain metabolism, Chromosome Mapping, Conserved Sequence, DNA Primers, Gene Library, Humans, Hybrid Cells, Karyotyping, MADS Domain Proteins, MEF2 Transcription Factors, Mammals, Molecular Sequence Data, Polymerase Chain Reaction, Restriction Mapping, Rodentia, Biological Evolution, Chromosomes, Human, Pair 5, DNA-Binding Proteins genetics, Myogenic Regulatory Factors, Transcription Factors genetics
- Published
- 1995
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34. cDNA sequence, genomic organization, and evolutionary conservation of a novel gene from the WAGR region.
- Author
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Schwartz F, Eisenman R, Knoll J, Gessler M, and Bruns G
- Subjects
- Amino Acid Sequence, Animals, Base Sequence, Brain embryology, Caenorhabditis elegans genetics, Chickens genetics, Chromosome Mapping, Cloning, Molecular, Conserved Sequence, DNA, Complementary, Exons, Fetus, Gene Library, Humans, Introns, Molecular Sequence Data, Open Reading Frames, RNA, Messenger analysis, RNA, Messenger biosynthesis, Restriction Mapping, Sequence Homology, Amino Acid, Biological Evolution, Brain metabolism, Chromosomes, Human, Pair 11, WAGR Syndrome genetics
- Abstract
A new gene (239FB) with predominant and differential expression in fetal brain has recently been isolated from a chromosome 11p13-p14 boundary area near FSHB. The corresponding mRNA has an open reading frame of 294 amino acids, a 3' untranslated region of 1247 nucleotides, and a highly GC-rich 5' untranslated region. The coding and 3' UT sequence is specified by 6 exons within nearly 87 kb of isolated genomic locus. The 5' end region of the transcript maps adjacent to the only genomically defined CpG island in a chromosomal subregion that may be associated with part of the mental retardation of some WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome patients. In addition to nucleotide and amino acid similarity to an EST from a normalized infant brain cDNA library, the predicted protein has extensive similarity to two Caenorhabditis elegans polypeptides of, as yet, unknown function. The 239FB locus is, therefore, likely part of a family of genes with two members expressed in human brain. The extensive conservation of the predicted protein suggests a fundamental function of the gene product and will enable evaluation of the role of the 239FB gene in neurogenesis in model organisms.
- Published
- 1995
- Full Text
- View/download PDF
35. A WAGR region gene between PAX-6 and FSHB expressed in fetal brain.
- Author
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Schwartz F, Neve R, Eisenman R, Gessler M, and Bruns G
- Subjects
- Blotting, Northern, Chromosome Mapping, Gene Expression, Humans, RNA analysis, Brain embryology, Gene Deletion, Transcription, Genetic genetics, WAGR Syndrome genetics
- Abstract
Developmental delay or mental retardation is a frequent component of multi-system anomaly syndromes associated with chromosomal deletions. Isolation of genes involved in the mental dysfunction in these disorders should define loci important in brain formation or function. We have identified a highly conserved locus in the distal part of 11p13 that is prominently expressed in fetal brain. Minimal expression is observed in a number of other fetal tissues. The gene maps distal to PAX-6 but proximal to the loci for brain-derived neurotrophic factor (BDNF) and the beta subunit of follicle stimulating hormone (FSHB), within a region previously implicated in the mental retardation component of some WAGR syndrome patients. Within fetal brain, the corresponding transcript is prominent in frontal, motor and primary visual cortex as well as in the caudate-putamen. The characteristics of this gene, including the striking evolutionary conservation at the locus, suggest that the encoded protein may function in brain development.
- Published
- 1994
- Full Text
- View/download PDF
36. Assignment of the human macrophage mannose receptor gene (MRC1) to 10p13 by in situ hybridization and PCR-based somatic cell hybrid mapping.
- Author
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Eichbaum Q, Clerc P, Bruns G, McKeon F, and Ezekowitz RA
- Subjects
- Animals, Base Sequence, DNA Primers genetics, Humans, Hybrid Cells, In Situ Hybridization, Fluorescence, Macrophages metabolism, Mannose Receptor, Mice, Molecular Sequence Data, Polymerase Chain Reaction, Chromosome Mapping, Chromosomes, Human, Pair 10 ultrastructure, Lectins, C-Type, Mannose-Binding Lectins, Receptors, Cell Surface genetics
- Published
- 1994
- Full Text
- View/download PDF
37. Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28.
- Author
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Gorlin JB, Henske E, Warren ST, Kunst CB, D'Urso M, Palmieri G, Hartwig JH, Bruns G, and Kwiatkowski DJ
- Subjects
- Blotting, Southern, Carrier Proteins genetics, Chromosome Mapping, DNA analysis, Filamins, Genetic Markers, Humans, Hybrid Cells, Centromere, Color Perception genetics, Contractile Proteins genetics, Glucosephosphate Dehydrogenase genetics, Microfilament Proteins genetics, X Chromosome
- Abstract
Actin-binding protein-280 (ABP-280) is a dimeric actin filament crosslinking protein that promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. We have mapped the ABP-280 filamin gene (FLN) to Xq28 by Southern blot analysis of somatic cell hybrid lines, by fluorescence in situ hybridization, and through identification of portions of the FLN gene within cosmids and YACs mapped to Xq28. The FLN gene is found within a 200-kb region centromeric to the G6PD locus and telomeric to DSX52 and the color vision locus.
- Published
- 1993
- Full Text
- View/download PDF
38. Structure, chromosome location, and expression of the human smooth muscle (enteric type) gamma-actin gene: evolution of six human actin genes.
- Author
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Miwa T, Manabe Y, Kurokawa K, Kamada S, Kanda N, Bruns G, Ueyama H, and Kakunaga T
- Subjects
- Amino Acid Sequence, Animals, Base Sequence, Blotting, Northern, Blotting, Southern, Cell Line, Chromosome Mapping, DNA genetics, DNA isolation & purification, Digestive System Physiological Phenomena, Exons, Genomic Library, Humans, Hybrid Cells cytology, Hybrid Cells physiology, Introns, Mice, Molecular Sequence Data, RNA genetics, RNA isolation & purification, Rats, Sequence Homology, Nucleic Acid, Actins genetics, Biological Evolution, Chromosomes, Human, Pair 2, Muscle, Smooth physiology
- Abstract
Recombinant phages that carry the human smooth muscle (enteric type) gamma-actin gene were isolated from human genomic DNA libraries. The amino acid sequence deduced from the nucleotide sequence matches those of cDNAs but differs from the protein sequence previously reported at one amino acid position, codon 359. The gene containing one 5' untranslated exon and eight coding exons extends for 27 kb on human chromosome 2. The intron between codons 84 and 85 (site 3) is unique to the two smooth muscle actin genes. In the 5' flanking region, there are several CArG boxes and E boxes, which are regulatory elements in some muscle-specific genes. Hybridization with the 3' untranslated region, which is specific for the human smooth muscle gamma-actin gene, suggests the single gene in the human genome and specific expressions in enteric and aortic tissues. From characterized molecular structures of the six human actin isoform genes, we propose a hypothesis of evolutionary pathway of the actin gene family. A presumed ancestral actin gene had introns at least sites 1, 2, and 4 through 8. Cytoplasmic actin genes may have directly evolved from it through loss of introns at sites 5 and 6. However, through duplication of the ancestral actin gene with substitutions of many amino acids, a prototype of muscle actin genes had been created. Subsequently, striated muscle actin and smooth muscle actin genes may have evolved from this prototype by loss of an intron at site 4 and acquisition of a new intron at site 3, respectively.
- Published
- 1991
- Full Text
- View/download PDF
39. Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10.
- Author
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Ueyama H, Bruns G, and Kanda N
- Subjects
- Cloning, Molecular, DNA Probes, Humans, Restriction Mapping, Actins genetics, Chromosomes, Human, Pair 10, Muscle, Smooth ultrastructure
- Abstract
Human vascular smooth muscle actin gene (ACTSA) was cloned and its unique sequence was used as the hybridization probe for Southern blot analysis of DNAs from 18 rodent-human somatic cell hybrids; the gene was assigned to human chromosome 10. Regional mapping by in situ hybridization showed that the gene is located on the long arm (q22-q24) of the chromosome. Thus, the gene is on a different chromosome from the other four actin genes so far examined.
- Published
- 1990
- Full Text
- View/download PDF
40. A strategy to reveal high-frequency RFLPs along the human X chromosome.
- Author
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Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley W, and Roderick T
- Subjects
- Alleles, Chromosome Mapping, Female, Fragile X Syndrome genetics, Gene Frequency, Genetic Carrier Screening, Genetic Linkage, Genetic Markers, Humans, Male, Muscular Dystrophies genetics, Pedigree, DNA genetics, DNA Restriction Enzymes pharmacology, DNA, Recombinant, Polymorphism, Genetic, X Chromosome analysis
- Abstract
Fifteen human X-chromosome-specific DNA fragments, localized to particular regions of that chromosome, were used to search for restriction fragment length polymorphisms. A screening panel prepared by digesting DNA from only two females and one male with 24 restriction enzymes was sufficient to reveal two-allele polymorphisms among one-third of the probes tested. These polymorphisms, as theoretically anticipated, showed minor allele frequencies above 20%, as a rule. Such high-frequency polymorphism allowed identifying females, from pedigrees segregating three X-linked diseases, who were multiply heterozygous for polymorphic loci spread throughout the X chromosome. In addition, two of the 24 enzymes tested with these X-specific probes, Msp I and Taq I, generate fragment sizes in DNA-blotting experiments that, on average, are significantly larger than expected from nearest neighbor predicted recognition site frequencies.
- Published
- 1984
41. Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome.
- Author
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Donlon TA, Lalande M, Wyman A, Bruns G, and Latt SA
- Subjects
- Chromosome Deletion, Chromosome Mapping, Cloning, Molecular, DNA Restriction Enzymes, Humans, Nucleic Acid Hybridization, Chromosomes, Human, 13-15, Prader-Willi Syndrome genetics
- Abstract
Flow cytometry and recombinant DNA techniques have been used to obtain reagents for a molecular analysis of the Prader-Willi syndrome (PWS). HindIII total-digest libraries were prepared in lambda phage Charon 21A from flow-sorted inverted duplicated no. 15 human chromosomes and propagated on recombination-proficient (LE392) and recBC-, sbcB- (DB1257) bacteria. Twelve distinct chromosome 15-specific probes have been isolated. Eight localized to the region 15q11----13. Four of these eight sublocalized to band 15q11.2 and are shown to be deleted in DNA of one of two patients examined with the PWS. Heteroduplex analysis of two of these clones, which grew on DB1257 but not on LE392, revealed stem-loop structures in the inserts, indicative of inverted, repeated DNA elements. Such DNA repeats might account for some of the cloning instability of DNA segments from proximal 15q. Analysis of the genetic and physical instability associated with the repeated sequences we have isolated from band 15q11.2 may elucidate the molecular basis for the instability of this chromosomal region in patients with the PWS or other diseases associated with chromosomal abnormalities in the proximal long arm of human chromosome 15.
- Published
- 1986
- Full Text
- View/download PDF
42. Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism.
- Author
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Ozelius L, Hsu YP, Bruns G, Powell JF, Chen S, Weyler W, Utterback M, Zucker D, Haines J, and Trofatter JA
- Subjects
- Alleles, Chromosome Mapping, Cloning, Molecular, Genetic Linkage, Humans, Genes, Monoamine Oxidase genetics, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length, X Chromosome
- Abstract
An essentially full-length cDNA clone for the human enzyme monoamine oxidase type A (MAO-A) has been used to determine the chromosomal location of a gene encoding it. This enzyme is important in the degradative metabolism of biogenic amines throughout the body and is located in the outer mitochondrial membrane of many cell types. Southern blot analysis of PstI-digested human DNA revealed multiple fragments that hybridized to this probe. Using rodent-human somatic cell hybrids containing all or part of the human X chromosome, we have mapped these fragments to the region Xp21-p11. A restriction fragment length polymorphism (RFLP) for this MAOA gene was identified and used to evaluate linkage distances between this locus and several other loci on Xp. The MAOA locus lies between DXS14 and OTC, about 29 cM from the former.
- Published
- 1988
- Full Text
- View/download PDF
43. Four restriction fragment length polymorphisms revealed by probes from a single cosmid map to human chromosome 12q.
- Author
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Buroker NE, Magenis RE, Weliky K, Bruns G, and Litt M
- Subjects
- Animals, Cell Line, Cricetinae, Cricetulus, DNA Restriction Enzymes, Electrophoresis, Agar Gel, Female, Genetic Markers, Humans, Hybrid Cells, Karyotyping, Male, Mice, Nucleic Acid Hybridization, Chromosome Mapping, Chromosomes, Human, 6-12 and X, Cosmids, Polymorphism, Genetic
- Abstract
Human gene mapping would be greatly facilitated if marker loci with sufficient polymorphism information content were generally available. As a source of such markers, we have used cosmids from a human genomic library. We have used a rapid method for screening random cosmids to identify those homologous to genomic regions especially rich in restriction fragment length polymorphisms (Litt and White 1985). This method allows whole cosmids to be used as probes against Southern transfers of genomic DNA; regions of cosmid probes homologous to repeated genomic sequences are rendered unable to anneal with Southern transfers by prehybridization of the probes with a vast excess of non-radioactive genomic DNA. From one cosmid (C1-11) identified by this procedure, we have isolated four single-copy probes, each of which identifies a polymorphic locus. Despite the existence of some linkage disequilibrium in this system, the polymorphism information content was computed as 0.73. Using a somatic cell hybrid mapping panel, we have mapped probes from cosmid 1-11 to human chromosome 12q. Additionally, in situ hybridization of the whole cosmid to metaphase spreads allowed more precise assignment of the locus to the region 12cen----q13. The locus revealed by probes from cosmid 1-11 has been designated D12S6.
- Published
- 1986
- Full Text
- View/download PDF
44. Differential amplification, assembly, and relocation of multiple DNA sequences in human neuroblastomas and neuroblastoma cell lines.
- Author
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Shiloh Y, Shipley J, Brodeur GM, Bruns G, Korf B, Donlon T, Schreck RR, Seeger R, Sakai K, and Latt SA
- Subjects
- Base Sequence, Cell Line, Chromosome Banding, Chromosome Mapping, Chromosomes, Human, 1-3, Humans, Oncogenes, DNA analysis, Gene Amplification, Neuroblastoma genetics
- Abstract
DNA amplification, manifested by homogeneously staining regions in chromosomes and by extrachromosomal, double minute bodies, is characteristic of many neuroblastoma cell lines. Sequences recruited from a specific domain on the short arm of chromosome 2 (2p) are amplified in advanced-stage primary neuroblastomas, whereas sequences from distinctly different regions of 2p are amplified in the neuroblastoma cell line IMR-32. Five different DNA segments, which include the oncogene N-myc, three other fragments derived from the homogeneously staining region of the neuroblastoma cell line IMR-32, and a fifth fragment, derived from the neuroblastoma cell line NB-9, showed differential and variable amplification in 24 advanced-stage neuroblastoma tumors out of 112 tested specimens. All five fragments were mapped within the chromosomal region 2p23-2p25 by three different approaches. However, eight other fragments cloned from the homogeneously staining region of IMR-32 cells, which were not amplified in the tumor tissues examined, were mapped to two more proximal domains of 2p, thousands of kilobases apart from each other and from the chromosomal domain that is amplified in the tumors. These results establish the amplification, to different degrees, of a variable-sized segment of one domain near the terminus of 2p in advanced neuroblastomas. These tumors might ultimately be distinguished according to the pattern of amplification of DNA segments within this domain. The data presented also indicate the existence of a new and complex amplification mechanism in at least one neuroblastoma cell line (IMR-32), which involves not only relocation of DNA from specific genomic domains but also the formation of novel units by splicing together very distant DNA segments.
- Published
- 1985
- Full Text
- View/download PDF
45. Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.
- Author
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de Martinville B, Kunkel LM, Bruns G, Morlé F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, and Housman D
- Subjects
- Animals, Base Sequence, Chromosome Banding, Cricetinae, Cricetulus, DNA genetics, DNA Restriction Enzymes, Female, Humans, Hybrid Cells, Male, Mice, Nucleic Acid Hybridization, Rats, Chromosome Mapping, Genetic Linkage, Genetic Markers, Muscular Dystrophies genetics, X Chromosome
- Abstract
Panels of somatic cell hybrid lines carrying various structural rearrangements of the human X chromosome short arm were analyzed with 21 X-chromosome-specific cloned DNA fragments. We mapped these molecular markers to five different regions of the short arm of the X chromosome. The results were confirmed by gene-dosage studies of human lymphoblasts with structurally abnormal X chromosomes. The ornithine transcarbamylase gene and four anonymous DNA sequences map within band Xp21, flanking the presumed locus for Duchenne muscular dystrophy.
- Published
- 1985
46. Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism.
- Author
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Kwan SP, Kunkel L, Bruns G, Wedgwood RJ, Latt S, and Rosen FS
- Subjects
- DNA genetics, DNA Restriction Enzymes, DNA, Recombinant, Humans, Nucleic Acid Hybridization, Polymorphism, Genetic, Recombination, Genetic, Agammaglobulinemia genetics, Chromosome Mapping, X Chromosome
- Abstract
A molecular linkage analysis in 11 families with X-linked agammaglobulinemia (XLA) localized the XLA gene to the proximal part of the long arm of the human X chromosome. Significant linkage was detected between XLA and loci defined by two polymorphic DNA probes called 19-2 for the DXS3 locus and S21 for the DXS17 locus. Both localize to the region Xq21.3-Xq22. Most likely recombination distances (theta) and associated logarithm of the odds (lod) scores for the XLA-DXS3 and XLA-DXS17 pairs were theta = 0.04 morgans (lod, 3.65) and theta = 0 (lod, 2.17), respectively. Tight linkage between XLA and the locus DXS43 defined by the X short arm probe D2 (localized to Xp22-Xp21) was strongly excluded and we obtained no evidence for significant linkage between XLA and any other X short arm probe. The probe pair 19-2 and S21 should be informative for molecular linkage-based analysis of XLA segregation in the majority of families afflicted with this disorder.
- Published
- 1986
- Full Text
- View/download PDF
47. The human mannose-binding protein gene. Exon structure reveals its evolutionary relationship to a human pulmonary surfactant gene and localization to chromosome 10.
- Author
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Sastry K, Herman GA, Day L, Deignan E, Bruns G, Morton CC, and Ezekowitz RA
- Subjects
- Acute-Phase Proteins ultrastructure, Amino Acid Sequence, Base Sequence, Biological Evolution, Blotting, Southern, Chromosome Mapping, Exons, Humans, Mannose-Binding Lectins, Molecular Sequence Data, Restriction Mapping, Structure-Activity Relationship, Acute-Phase Proteins genetics, Carrier Proteins genetics, Chromosomes, Human, Pair 10, Pulmonary Surfactants genetics
- Abstract
The human mannose-binding protein (MBP) plays a role in first line host defense against certain pathogens. It is an acute phase protein that exists in serum as a multimer of a 32-kD subunit. The NH2 terminus is rich in cysteines that mediate interchain disulphide bonds and stabilize the second collagen-like region. This is followed by a short intervening region, and the carbohydrate recognition domain is found in the COOH-terminal region. Analysis of the human MBP gene reveals that the coding region is interrupted by three introns, and all four exons appear to encode a distinct domain of the protein. It appears that the human MBP gene has evolved by recombination of an ancestral nonfibrillar collagen gene with a gene that encodes carbohydrate recognition, and is therefore similar to the human surfactant SP-A gene and the rat MBP gene. The gene for MBP is located on the long arm of chromosome 10 at 10q11.2-q21, a region that is included in the assignment for the gene for multiple endocrine neoplasia type 2A.
- Published
- 1989
- Full Text
- View/download PDF
48. Isolation of amplified DNA sequences from IMR-32 human neuroblastoma cells: facilitation by fluorescence-activated flow sorting of metaphase chromosomes.
- Author
-
Kanda N, Schreck R, Alt F, Bruns G, Baltimore D, and Latt S
- Subjects
- Base Composition, Cell Line, Chromosome Mapping, Flow Cytometry, Humans, Karyotyping, Metaphase, Nucleic Acid Hybridization, Chromosome Aberrations, Chromosomes, Human, 1-3, Cloning, Molecular, DNA analysis, DNA, Neoplasm genetics, Gene Amplification, Neuroblastoma genetics
- Abstract
Human neuroblastoma IMR-32 cells have large homogeneously staining regions (HSRs), primarily in the short arms of chromosome 1. We have constructed a recombinant phage library that is enriched for DNA present in the HSR of this chromosome by using fluorescence-activated flow sorting for initial chromosome purification. Eleven distinct cloned DNA segments were identified that showed significantly greater hybridization to IMR-32 genomic DNA, detected by Southern blotting, than to normal human genomic DNA. These sequences have also been localized to the HSR of chromosome 1 by in situ hybridization. Based on an approximate 50-fold sequence amplification for each cloned segment and a total HSR size of 150,000 kilobases, the amplified unit in the HSR is estimated to be 3,000 kilobases. Sequences homologous to all cloned HSR DNA segments were mapped to human chromosome 2 by using human-mouse hybrid cells. Further work using in situ hybridization demonstrated that cloned HSR segments were localized in the short arm of chromosome 2 in both normal and IMR-32 cells. Thus, the amplification of these sequences in IMR-32 cells may have involved transposition from chromosome 2 to chromosome I.
- Published
- 1983
- Full Text
- View/download PDF
49. Two RFLPs identified by a human chromosome #2 clone at 2p15-2p16 (HGM8 assignment no. D2S5).
- Author
-
Shiloh Y, Kanda N, Kunkel LM, Bruns G, Sakai K, and Latt SA
- Subjects
- Humans, Polymorphism, Genetic, Chromosomes, Human, 1-3, Cloning, Molecular
- Published
- 1985
- Full Text
- View/download PDF
50. Construction of a chromosome 16-enriched phage library and characterization of several DNA segments from 16p.
- Author
-
Harris P, Lalande M, Stroh H, Bruns G, Flint A, and Latt SA
- Subjects
- Animals, Coliphages genetics, Cricetinae, Humans, Hybrid Cells, Karyotyping, Nucleic Acid Hybridization, Polycystic Kidney Diseases genetics, Polymorphism, Restriction Fragment Length, Repetitive Sequences, Nucleic Acid, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA genetics, Genetic Linkage, Genetic Markers
- Abstract
A flow sorted chromosome 16-enriched recombinant library was produced to isolate DNA probes useful for constructing a linkage map of 16p, primarily for the study of adult polycystic kidney disease (APKD). The APKD locus has been mapped to chromosome 16 by linkage with the probe 3'HVR, which is located in the region 16p12----pter. Of the 48 single-copy fragments isolated from this new phage library, 39 (81%) were found to be chromosome 16 specific. Probes mapping to chromosome 16 were regionally localized by hybridizing to flow-sorted spot blots of translocation products from lymphoblastoid cell lines containing the rearrangements t(1;16) or t(11;16). Translocation breakpoints at 16p13.11 and 16p11.1 were utilized to subdivide chromosome 16 into three regions: Twenty-six probes were mapped to 16p11.1----16qter, two to 16p11.1----16p13.11, and eleven to 16p13.11----16pter. Probes from 16p were examined for their recognition of restriction fragment length polymorphisms (RFLPs). Seven polymorphic probes were found which recognized eleven RFLPs. Six of the seven probes have RFLPs which are reasonably informative (polymorphism information contents (PIC) of over 0.25). Two of these identify polymorphisms with three different alleles, one of which has a PIC value of over 0.4. These probes may aid in the diagnosis of APKD and contribute towards a linkage map of chromosome 16.
- Published
- 1987
- Full Text
- View/download PDF
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