Chromosomal Alterations: Origin and Significance

412 Pages·1994·11.42 MB·English

by  D. Schulte-Frohlinde (auth.)

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
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© Springer-Verlag Berlin Heidelberg 1994
Softcover reprint of the hardcover 1st edition 1994
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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