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. SAKAMarOHmo, 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 RadiationInduced 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 radiation exposure
in
accidental, occupational
and
environmental
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 Environmental Chemical Carcinogens
Assays
for
Screening
P. MOSSESSO ......................................................................................................... 343
of
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