Advances in Mutagenesis Research

249 Pages·1993·8.609 MB·English

by  V. I. Ivanov, N. A. Liapunova (auth.), Professor Dr. Günter Obe (eds.)

4
Advances
in Mutagenesis Research _____
Editor-in-Chief
G. Obe, Essen
Editorial Board
H.I. Evans, Edinburgh
A.T. Natarajan, Leiden
H.S. Rosenkranz, Cleveland
F.H. Sobels, Leiden
T. Sugimura, Tokyo
Advances
in Mutagenesis
Research 4
Edited by G. Obe
With Contributions by
F. Cortes P. Escalza A. Hofmann
V. 1. Ivanov H. Kasai G. Klopman
G. Korge N. A. Liapunova
S. Nishimura N. Paweletz B. Richards
H. S. Rosenkranz M. Ruiz-Rubio M.M. Shahin
B. K. Vig R. D. Wegner D. Wild
With 110 Figures and 4 Photographs
Springer-Verlag
Berlin Heidelberg New York
London Paris Tokyo
Hong Kong Barcelona Budapest
Professor Dr. GÜNTER ÜBE
FB9 der Universität
Gesamthochschule Essen
Universitäts straße 5
Postfach 10 37 64
4300 Essen 1, FRG
ISBN-13: 978-3-642-77468-3 e-ISBN-13: 978-3-642-77466-9
DOI: 10.1007/978-3-642-77466-9
Library of Congress Catalog Card Number 89-640326
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Foreword to the Series
Mutations are permanent changes in the genetic material. These
changes can comprise single genes (gene mutations), the structure
of the chromosomes (chromosome mutations), or the number ofthe
chromosomes (genome mutations). Since H. J. Muller presented his
paper The problem of genic modification at the 5th International
Congress of Genetics in Berlin on the 15th of September, 1927, in
which he brilliantly showed that X-rays induce mutations in the
fruitfly Drosophila, we have learnt that a plethora of agents,
including ionizing and nonionizing radiations, chemicals, and vir
uses, can induce mutations. In most of the cases, induced mutations
are deleterious to the cells or the organisms in which they occur,
and we cannot justify damaging the genetic material of organisms,
including ourselves, by introducing man-made mutagenic agents
into the environment. To prevent this, chemicals must be tested for
their possible mutagenicity in a variety of test systems before they
can be used. This has opened a field of applied genetic research,
namely, genetic toxicology. Comparative analyses led to the con
cept that mutagenic agents can be expected to be also carcinogenic.
The theory of the origin of cancer by mutations has gained
experimental proof by the finding that oncogenes, when changed
by mutations, can give rise to cancer.
Basic research in the field of mutation research has unraveled
some of the molecular mechanisms underlying the origin of muta
tions and the complex reaction of cells to induced changes in their
DNA. These cellular reactions can eventually lead to the restora
tion of the original structure of the DNA, but, via misrepair, can
also give rise to mutations.
There are still many open questions. The molecular mech
anisms leading to mutations are only partially known. In view of
the fact that about 6 in 1000 newborn children have a chromo
somal alteration, it would be especially important to understand
how chromosome and genome mutations are produced.
Molecular changes in the DNA and the reaction of the cells to
such changes result in typical mutation rates which reflect the
evolutionary history of the organisms in question. Mutations are
one ofthe sources of variability which is the prerequisite for natural
VI Foreword to the Series
selection and for evolution; but since mutations can also result in
various deleterious effects, such as hereditary diseases, a population
can only survive when the mutation rates are not too high and not
too low, i.e., mutation rates are delicately balanced. Elevations of
the mutation rates would have considerable consequences. It
would lead to an increase in the frequencies of cancers and would
represent a great risk for the evolutionary future of a species; a
scenario in which humans are fully included.
In view of these implications, mutation research has two aims:
1. To understand the molecular mechanisms leading to mutations
and
2. to prevent a thoughtless introduction of mutagenic agents into
our environment.
Both aspects, namely basic and applied ones, will be treated in the
series Advances in Mutagenesis Research. The articles will deal with
current developments in the field of mutation research and will help
the reader to orient himself in this centrally important area of
biology.
Prof. Dr. GUNTER OBE
Contents
Nikolay W. Timofeeff - Ressovsky (1900 - 1981)
An Essay on His Life and Scientific Achievements
V. I. IVANOV and N. A. LIAPUNOVA
(With 1 Figure and 4 Photographs) ................... .
1 Introduction ................................... .
2 Autobiographical Notes. . . . . . . . . . . . . . . . . . . . . . . . . . .. 2
3 Scientific Achievements. . . . . . . . . . . . . . . . . . . . . . . . . . .. 3
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 13
Arylnitrenium Ions and the Genotoxic Potency
of Aromatic Amines and Nitro Compounds
D. WILD
(With 6 Figures) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 16
1 Introduction. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 16
2 Reactive Metabolites of Arylamines and Nitroarenes . . .. 16
3 Photochemical Formation of Arylnitrenium Ions
from Arylazides . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 18
4 Chemical Structure and Mutagenic Potency
of Arylazides/ Arylnitrenium Ions. . . . . . . . . . . . . . . . . . .. 19
5 Reactivity of Arylnitrenium Ions and Genotoxic Potency
of Aromatic Amines and Nitro Compounds. . . . . . . . . .. 24
6 The Contribution of the Organism to the Genotoxic
Potency. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 26
7 Conclusions. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 27
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 28
Formation of 8-Hydroxyguanine by Oxidative DNA Damage,
Its Repair and Its Mutagenic Effects
H. KASAl and S. NISHIMURA
(With 11 Figures). . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 31
1 Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 31
2 Formation of ohsGua in DNA by Oxygen-Radical
Forming Agents. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 32
VIII Contents
3 Repair of oh8Gua Residues in DNA. . . . . . . . . . . . . . . .. 34
4 Induction of Mutations by oh8Gua in DNA. . . . . . . . . .. 40
5 Discussion. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 42
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 43
Exploring Genetic and Nongenetic Relationships:
The Induction of Micronuclei
H. S. ROSENKRANZ and G. KLOPMAN
(With 9 Figures) .............. ; . . . . . . . . . . . . . . . . . .. 46
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 46
2 Simulation Studies. . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 53
3 Comparison of Structural Fragments . . . . . . . . . . . . . . .. 60
4 Discussion. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 63
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 64
Analysis of Mutagenicity and Chemical Structure in Various
Series of Related Compounds
M. M. SHAHIN
(With 13 Figures). . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 68
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 68
2 Monocyclic Compounds. . . . . . . . . . . . . . . . . . . . . . . . .. 69
3 Naphthalene and Structurally Related Compounds. . . . .. 73
4 Quinoline and Structurally Related Compounds. . . . . . .. 74
5 Biphenyl and Structurally Related Compounds. . . . . . . .. 75
6 Anthraquinone and Structurally Related Compounds. . .. 77
7 Fluorene and Structurally Related Compounds. . . . . . . .. 77
8 Discussion. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 78
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 84
Mechanism of Induced Mutagenesis by Ultraviolet
Light in Escherichia coli
M. RUIZ-RuBIO
(With 3 Figures) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 88
Background and Perspective. . . . . . . . . . . . . . . . . . . . . .. 88
2 General Aspects of UV Mutagenesis. . . . . . . . . . . . . . . .. 90
3 Main Lesions Produced by UV Light
and Its Role In Mutagenesis. . . . . . . . . . . . . . . . . . . . . .. 92
4 Mutational Spectra of UV Light. . . . . . . . . . . . . . . . . . .. 95
5 The Protein RecA and UV Mutagenesis. . . . . . . . . . . . .. 96
6 Role of UmuC and UmuD . . . . . . . . . . . . . . . . . . . . . . .. 98
Contents IX
7 Involvement of Polymerases in UV Mutagenesis. . . . . .. 100
8 Untargeted Mutagenesis. . . . . . . . . . . . . . . . . . . . . . . .. 102
9 Towards a Mechanistic Model of Base-Pair Substitution
Mutation by UV Light . . . . . . . . . . . . . . . . . . . . . . . . . . 105
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 108
Polytene Chromosomes in Mutagenesis
A. HOFMANN and G. KORGE
(With 17 Figures)................................. 115
1 Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 115
2 Characterization of Polytene Chromosomes. . . . . . . . .. 116
3 Polytene Chromosomes - a Tool in Molecular
Genetics. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 121
4 Conclusions and Perspectives. . . . . . . . . . . . . . . . . . . .. 142
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 144
Three-Way Differential Staining of Chromosomes
for the Identification of SCEs per Cell Cycle:
Fundamentals and Applications
F. CORTES and P. ESCALZA
(With 8 Figures) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 150
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 150
2 Fundamentals of the Three-Way Differentiation. . . . . .. 152
3 Applications of the TWD Staining Method. . . . . . . . . .. 156
4 TWD Staining in Plants . . . . . . . . . . . . . . . . . . . . . . . .. 163
5 Conclusions. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 163
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 165
The Mammalian Centromere: Centromere Separation,
Kinetochore Proteins and Aneuploidy
B. K. VIG, B. RICHARDS and N. PAWELETZ
(With 25 Figures). . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 169
1 Introduction.. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 169
2 The Centromere. . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 170
3 The Kinetochore . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 170
4 Centromeric DNA. . . . . . . . . . . . . . . . . . . . . . . . . . . .. 171
5 Kinetochore Proteins. . . . . . . . . . . . . . . . . . . . . . . . . .. 173
6 Is There a Centromerease? . . . . . . . . . . . . . . . . . . . . .. 174
7 Sequential Centromere Separation. . . . . . . . . . . . . . . .. 175
8 Peri centric Heterochromatin and Centromere
Separation. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 176
x Contents
9 Repetitive DNA and Centromere Separation. . . . . . . .. 177
10 Multicentric Chromosomes. . . . . . . . . . . . . . . . . . . . .. 177
11 What is Centromeric DNA? . . . . . . . . . . . . . . . . . . . .. 187
12 Kinetochore Proteins and Chromosome Migration. . .. 188
13 Nuclear Blebbing. . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 193
14 Chromosome Location with Regards to the Spindle. .. 194
15 Centromere Separation in Human Disease
and Evolution . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 196
16 Conclusions. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 199
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 200
Chorionic Villi Analysis
R . .D. WEGNER
(With 17 Figures). . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 204
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 204
2 Historical Development. . . . . . . . . . . . . . . . . . . . . . . . .. 206
3 Patients.. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 207
4 CVS Techniques and Risk Estimations. . . . . . . . . . . . .. 209
5 Cytogenetic Techniques. . . . . . . . . . . . . . . . . . . . . . . . .. 212
6 Cytogenetic Data. . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 216
7 Molecular Analysis. . . . . . . . . . . . . . . . . . . . . . . . . . . .. 226
8 Conclusions. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 230
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 231
Subject Index. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 237
Nikolay W. Timofeeff-Ressovsky* (1900-1981)
An Essay on His Life and Scientific Achievements**
V. I. IVANOV and N. A. LiAPUNOVA
Contents
I Introduction............................................... I
2 Autobiographical Notes. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 2
3 Scientific Achievements. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 3
References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13
1 Introduction
Nikolay Wladimirowitsch Timofeeff-Ressovsky was an active member of the
German Academy of Naturalists "Leopoldina" in Halle, an honorary member of
the American Academy of Sciences and Arts in Boston, the Italian Society of
Experimental Biology, the Mendel Society in Lund (Sweden), the British Society
in Leeds, a founder member of N. I. Vavilov All-Union Society of Geneticists
and Breeders (USSR), a member of the Max Planck Society for Promotion of
Science (Germany), an honorary member of the Moscow Society of Naturalists,
the USSR Geographical Society, and the All-Union Botanical Society (USSR),
winner of medals and prizes of Lazzaro Spallancani (Italy), Darwin (Germany),
Mendel (Czechoslovakia. Germany), and Kimber (USA). N. W. Timofeeff
Ressovsky (nicknamed Timo) achieved so much during the long years of his far
from simple life that there would be enough material for a dozen scientific
biographies. He paved new ways in science (patterns of gene expression in
development, radiation genetics, biophysics, population genetics, and micro
evolution) and was a recognized scientist all over the world.
Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moskvorechie Str. I
115478 Moscow, Russia
* Spelling is according to that found in publications by N. W. Timofeeff-Ressovsky.
** In this essay some parts of the papers published in the Russian journals Priroda 1990 No.9
(V. I. Ivanov, "No prophet is accepted in his own country") and BioI. Nauki (Sci. reports of high
school) 1990 No.4 (V. l. Ivanov, "Nikolay W. Timofeeff-Ressovsky: a scientist and teacher") are
used with the kind permission of the respective editors.