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Chromosomal Alterations: Origin and Significance PDF

412 Pages·1994·11.42 MB·English
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G. Obe A. T. Natarajan (Eds.) Chromosomal Alterations Origin and Significance With Contributions by F. Adlkofer, S. Agulnik, D. Arndt, L. Bassi, J. S. Bedford, M. A. Bender, C. G. Bingham, 1. 1. W. A. Boei, R. Bonomi, A. Bosi, B. G. Brown, P. R. Bryant, C. R. E. Coggins, S. P. Colyer, T. Cremer, F. Darroudi, D. Dichiara, M. Digweed, D. J. Doolittle, M. E. Drets, R. Drouin, S. Du Manoir, 1. E. Duarte, A. A. Edwards, H. Fender, M. Fenech, P. Finnon, M. Fiore, G. A. Folle, E. L. Frome, F. Gensicke, A. S. H. Goldman, V. Gregoire, M. Grigorova, R. Grillo, I. Hansmann, A. N. Harvey, M. Hayashi, A. W. Hayes, W.-D. Heller, T. Hellwig, W. N. Hittleman, G. P. Holmquist, M. A. Hulten, C. Inoue, A. Jauch, C. Johannes ,E. E. Joiner, S. Joos, Y. Kamiguchi, H. H. Kampinga, J. S. King, D. J. Kirkland, B. Kunze, J. Larranaga, C. K. Lee, C. Lengauer, P. Lichter, L. G. Littlefield, D. C. Lloyd, W. Martinez, B. H. Mechoso, K. Mikamo, G. Mindek, K. Miura, R. C. Moore, W. F. Morgan, K. Morimoto, P. Mossesso, M. C. Miihlmann-Diaz, L. H. F. Mullenders, w.-u. Miiller, K. Mure, A. T. Natarajan, T. Nishino, G. Obe, H. 1. Oh, G. Olivieri, B. Pabst, F. Palitti, T. K. Pandita, G. E. Pantelias, J. W. Phillips, C. Plass, S. Popp, E. Pujadas, B. A. Reed, A. Reis, T. Ried, L. Riedel, R. Rieger, E. T. Sakamoto, Hojo R. J. Sakkers, B. Salone, J. R. K. Savage, G. Scherer, H. Scherthan, A. Schinoppi, E. Schrock, I. Schubert, D. Schulte-Frohlinde, E. Sennewald, R. B. Setlow, T. Sofuni, M. R. Speicher, C. Streffer, T. Takeshita, H. Tateno, W. Traut, S. Vermeulen, R.-D. Wegner, D. Weichenhan, H. Winking, D. Wlodek, G. Wolf, U. Wolf, K. Wuttke, M. Ziehmann, T. S. B. Zwanenburg With 95 Figures Springer-Verlag Berlin Heidelberg New York London Paris Tokyo Hong Kong Barcelona Budapest Professor Dr. Gunter Obe Department of Genetics University of Essen D-45117 Essen Germany Professor Dr. Adayapalam T. Natarajan Department of Radiation Genetics and Chemical Mutagenesis State University of Leiden 2300 RA Leiden The Netherlands ISBN-13:978-3-642-78889-5 e-ISBN-13:978-3-642-78887-1 DOl: 10.1007/978-3-642-78887-1 Library of Congress Cataloging.in-Publication Data. Chromosomal alterations: origin and significance/G. Obe, A. T. Natarajan, eds.; with contributions by F. Adlkofer ... let al.]. p. cm. Includes bibliographical references and index. ISBN-13 :978-3-642-78889-5 I. Human chromosome abnormalities. 2. Medical genetics. I. Obe, G. II, Natarajan, A. T. RBI55.5.C474 1994 616' .042-dc20 94·8275 CIP This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation. broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provisions of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the German Copyright Law. © Springer-Verlag Berlin Heidelberg 1994 Softcover reprint of the hardcover 1st edition 1994 The use of general descriptive names, registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. Typesetting: Camera ready by author 3113130 -5 4 3 2 I 0 -Printed on acid-free paper Foreword Research on the origin and significance of chromosomal aberrations has been going on over several decades. With the advent of sensitive molecular biological techniques and better knowledge of the structure of interphase nucleus and mitotic chromosomes, our understanding of chromosomal aberrations is getting better and better with time. In this book, a collection of papers in the field of chromosomal aberrations, which covers a cross section of current research in this area, is presented. The papers deal with chromosome structure, induction of DNA lesions by different clastogenic agents and their repair, induction of aberrations by agents which affect specific sequences in the DNA (restriction endonucleases, inhibitors of topoisomerases), factors affecting induction and yield of chromosomal aberrations (cell cycle, time of DNA replication). Several papers deal with techniques which give higher resolution for scoring aberrations, these include fluorescent in situ hybridization (FISH) and premature chromosome condensation (peC). In addition, topics such as automation of aberration scoring, problems associated with using chromosomal aberrations and micronuclei in population monitoring and the importance of chromosomal aberration assay in mutagenicity testing of chemicals are included. Thus, the papers presented in this book review the current knowledge on the basic and applied aspects of chromosomal aberrations and we hope that this book will be found useful by students as well as scientists engaged in this field of research. Essen and Leiden, 1993 G. OBE AND A. T. NATARAJAN Contents Radiation-Induced Formation of DNA Double-Strand Breaks in Plasm ids and E.coli D. SCHULTE-FROHLINDE (With 1 Figure) ..................................................................................................... 1 UV-induced pyrimidine monoadducts and their in vivo photofootprints R. DROUIN and G. P. HOLMQUIST (With 3 Figures) ................................................................................................... 10 Chromatin Structure, Hyperthermia and Repair of UV-Induced DNA Photolesions in Mammalian Cells L. H. F. MULLENDERS, R. J. SAKKERS and H. H. KAMPINGA (With 2 Figures) ................................................................................................... 21 An Inherited Homogeneously Staining Region Derived from a Long-Range Repeat Family in the House Mouse W. TRAm', H. WII\'KING, C. PLASS, D. WEIClIENllAN, B. KUNZE, T. HELLWIG and S. AGUI.NIK (With 8 Figures) ................................................................................................... 31 Detection of Genetic Imbalances in Tumor Genomes by Fluorescence in situ Hybridization with Tumor Genomic DNA and Subregional DNA Probes T. CREMER, P. UCI-rrER, S. Popp, E. SCHROCK, A. JAUCH, S. Du MANOIR, S. Jaos, C. LENGAUER, H. SCHERTllAN, T. Rnm and M. R. SPEIClIER ........................................ 42 Fluorescent in situ hybridization (FISH) in cytogenetical studies A. T. NATARAJAN, S. VERMEULEN, M. GRIGOROVA, J. J. W. A. BOEI, E. T. SAKAMarO Hmo, H. J. 011 and F. DARROUDI (With 1 Figure) ..................................................................................................... 50 The Use of Premature Chromosome Condensation and Chromosome Painting to Understand Chromosome Exchange Formation W. N. HmLEMAN, D. WLODEK, V. GREGOIRE and T. K. PANDITA (With 3 Figures) ................................................................................................... 57 The Role of DNA Double-Strand-Break Rejoining in Chromosome Damage and Repair J. S. KLl\IG, 1. W. PlULLlPS and W. F. MORGAN (With 3 Figures) ................................................................................................... 64 VIII Contents Investigations of Aberration Origins Using BrdUrd 1. R K SAVAGE and A. N. HARVEY (With 6 Figures) ................................................................................................... 76 Elucidation of Some Factors Involved in the Formation of Chromosomal Aberrations by Inhibiting the Repair Polymerase R. C. MOORE, C. G. BINGHAM and M. A. BEr'mER (With 1 Figure) ..................................................................................................... 92 Use of Antitopoisomerase Drugs to Study the Mechanisms of Induction of Chromosomal Damage F. PAUTfI, P. MOSSESSO, D. DICHIARA, A. SCIlINOPPl, M. FIORE and L. BASSI (With 8 Figures) ................................................................................................... 103 Search for Perturbations induced by X-irradiation in the G2 Phase of Human Lymphocytes G. MINDEK and M. ZIEHMANN (With 4 Figures) ................................................................................................... 116 A Comparison of Radiation-Induced Aberrations in Human Cells Involving Early and Late Replicating X Chromosomes M. C. MOiILMA."IN-DIAZ and 1. S. BEDFORD (With 1 Figure) ..................................................................................................... 125 Radioprotective Chemicals as Tools for Studying Mechanisms of Radiation Induced Chromosome Damage in Human Lymphocytes L. G. LrnLEFIELD, E. E. 1011\'ER, S. P. COLYER and E. L. FROME ............................. 132 Factors Determining the Yields of Radiation-Induced Chromosomal Aberrations as Visualised by Means of Premature Chromosome Condensation in Interphase Cells G. E. PANTELlAS .................................................................................................... 140 Synergism and adaptive response in the interaction of low dose irradiation with subsequent mutagenic treatment in G2 phase human lymphocytes G. OUVIERl, A. BOSI, R. GRlU_O and B. SALONE ..................................................... 150 Responses of Radiosensitive Mutant Mammalian Cell Lines to Restriction Endonuclease induced DNA Double-Strand Breaks P. E. BRYANf (With 3 Figures) ................................................................................................... 160 Contents IX Quantitative Localization of Chromatid Breaks Induced by Alu I in the Long Arms of Chromosomes Number 1 of Chinese Hamster Ovary (CHO) Cells by Microphotometric Scanning M. E. DRETS, G. A. FoU-E, W. MARTINEZ, R. BONOMI, J. E. DUARTE, B. H. MECHOSO and J. LARRANAGA (With 7 Figures) ................................................................................................... 169 "Life time" of Alul inside Glycerol-Induced Vesicles in CHO Cells C. JOI-IANl\'ES and G. OBE (With 2 Figures) ................................................................................................... 184 Progress in Automatic Dicentric Hunting P. FINNON, D. C. LWYDandA. A. EDWARDS ......................................................... 192 The Micronucleus Assay with Rodent Peripheral Blood and Acridine Orange Supravital Staining M. HAYASHI and T. SOHJNI (With 2 Figures) ................................................................................................... 203 The Formation of Micronuclei after Exposure to Ionizing Radiation C. STREFFER, W.-U. MOLLER and K. WlJITKE (With 1 Figure) ..................................................................................................... 214 Excision Repaired Sites, Chromosome Breaks and Chromosome Loss Measured Simultaneously in Human Lymphocytes using the Cytokinesis Block Micronucleus Assay and Cytosine Arabinoside M. FE1'.'ECII (With 3 Figures) ................................................................................................... 223 The Potential of FISH for Meiotic Segregation Analysis M.A. HULTEN and A.S.H GOLDMAN (With 6 Figures) ................................................................................................... 235 Reliable Chromosome Studies of Human Oocytes and Spermatozoa using the Gradual Fixation-Air Drying (GF-AD) Method K. MIKAMO, Y. KAMIGUCHI, H. TATEMP and T. NISHINO (With 3 Figures) ................................................................................................... 252 Nondisjunction by Failures in the Molecular Control of Oocyte Maturation B. PABST and I. HANSMANN .................................................................................... 262 X Contents Cytogenetic and Molecular Investigations in Chromosomal Instability Syndromes R.-D. WEGNER, A. REIS and M. DIGWEED (With 7 Figures) ................................................................................................... 269 Distributions of Spontaneous Chromosomal Aberrations and of Spontaneous and Induced SCE and Micronuclei in Peripheral Lymphocytes from a Human Population M. A. BENDER and R. B. SETLOW (With 3 Figures) ................................................................................................... 282 Does the Genetic Deficiency in ALDH2 Determine the Alcohol-Drinking Behavior and the Induction of Chromosome Alterations in Peripheral Lymphocytes by Alcohol? K. MORlMoro, T. TAKESllITA, K. MIURA, K. MURE and C. INOUE (With 3 Figures) ................................................................................................... 293 Variability of chromosomal alterations in human peripheral lymphocytes of smokers and nonsmokers G. ODE, L. RIEDEL, W.-D. HELLER, E. SENNEWAl.D, G. SCllERER and F. ADLKOFER (With 4 Figures) ................................................................................................... 307 Chromosome analysis in accidental, occupational and environmental radiation exposure H. FENDER, U. WOLF, F. GENSICKE, G. Wou: and D. ARNDT (With 1 Figure) ..................................................................................................... 319 New Approaches to Design and Interpretation of in vitro Chromosomal Aberration Tests D. J. KIRKLAND (With 7 Figures) ................................................................................................... 333 Comments on Short-Term Cytogenetic Assays for Screening of Environmental Chemical Carcinogens P. MOSSESSO ......................................................................................................... 343 Contents XI Localized Chromosomal Aberrations in the Heterochromatic q Arm of the X Chromosome in V79 Chinese hamster cells and the Implications for Industrial in vitro Cytogenetic Screening T. S. B. ZWANENBURG and E. PuJADAS (With 3 Figures) ................................................................................................... 348 Cytogenetic Studies in Laboratory Animals Exposed by Inhalation to Mainstream Smoke or Environmental Tobacco Smoke B. A. REED, C. K. LEE, B. G. BROWN, C. R. E. COGGINS, A. W. HAYES and D. J. DoouTrLE ..... ........ .............. ....... ............... ............ ........................... ....................... 362 Evolutionary Aspects of Structural Chromosome Aberrations L ScmmERT and R. RIEGER (With 8 Figures) ...................................................................................................... 380 SUbject Index ............................................................................................... 395 Radiation-Induced Formation of DNA Double Strand Breaks in Plasmids and E. coli D. Schulte-Frohlinde Max-Planck-Institut fUr Strahlenchemie, Stiftstr. 34-36, D-45470 Miilheim an der Ruhr, Germany 1 Introduction The chemical reactions induced by high-energy irradiation are in the majority of cases free radical reactions (Henglein et al. 1969). This is due to the fact that the chemical changes are the result of ionizations which produce radical cations and electrons from each other. Electronic excitations contribute negligibly to chemical changes in DNA (Redpath et al. 1981; Morgan et al. 1982). The solvated electrons have a small probability of causing strand break (sb) in DNA (Lafleur et al. 1988). The main source of sb formation are the radical cations. Usually two ways of sb formation are distinguished depending on the location where the ionization has taken place. Either, molecules in the surroundings of the DNA are ionized, e.g. water molecules, proteins, or any other kind of molecules, or the DNA itself is ionized. The ionized molecules convert to neutral radicals by rapid deprotonation, or by reaction with water which also leads to the release of a proton. For instance the water radical cations convert into OH radicals and protons. The OH radicals diffuse to the DNA and react mainly with the bases and to a smaller extent with the sugar (Scholes et al. 1960). The organic radicals can react also with DNA, however, with much smaller rate constants than that of the OH radical. Nevertheless the reactions of organic radicals can lead to inactivation (Jong et al. 1972). These kinds of damage formation of DNA are known as the "indirect effect" of high-energy irradiation. The direct effect originates from the radical cations produced in the bases, sugars or phosphates of the DNA. Experimentally the direct effect has been studied by irradiation of solid DNA (Hutchinson 1985), offrozen solutions of DNA (Graslund et al. 1975; Huttermann 1982 1991; Cullis and Symons 1986), of liquid solution of DNA in the presence of OH scavengers (Siddiqi and Bothe 1987; Krisch et al. 1991; Schulte-Frohlinde et al. 1992), and by laser light which ionizes the bases in DNA (Schulte-Frohlinde et al. 1990). The latter technique solves the question positively as to whether or not base radicals can produce strand breaks in DNA since in contrast to high-energy irradiation e.g. electrons, y and X-rays, practically no OH radical is produced in the aqueous surrounding of the DNA by laser light. It should be noted that the results G.Obe A. T. Natarajan Chromosomal Alterations e Springer· Verlag Berlin Heidelberg 1994

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Due to sensitive molecular biological techniques, our understanding of chromosomal aberrations is steadily increasing. Provided here is a review of basic and applied aspects of the field. Chromosome structure, induction of DNA lesions by different clastogenic agents and their repair, induction of ab
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