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DNA Recombination and Repair (Frontiers in Molecular Biology) PDF

262 Pages·2000·159.482 MB·English
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Preview DNA Recombination and Repair (Frontiers in Molecular Biology)

D NA Recombination and Repair F r o n t i e rs in M o l e c u l ar Biology SERIES EDITORS B. D. Hames D. M. Glover Department of i-t/tU"/ji*.»írj>frT/ atui Moteen fat Hioiogu IJiUirmititofCatHt'riifoe. Lhmvn-ity of UrJs. Ueits ¿SJ M/'/. Uk Cambthi^e. UK TITLES IN THE SERIES 1. Human Retroviruses 12. Eukaryotic Gene Transcription Hnjitn ft. C it i feu Steptfett GoOilbouni 2. Steroid Hormone Action 13. Molecular Biology of Parasitic Protozoa Maleo! »t G. Patkee !\iwah I Smttft ami Mariiytt Parson* 3. Mechanisms of Protein Folding 14. Molecular Genetics of Photosynthesis Roger H Pant Bettif A Hugh Sailer, ¡atue< Harbor AK'¡U->>MVI, SOH1 4. Molecular Glycobiology 15. Eukaryotic UNA Replication Minor u Fu i into ami Ote Hitukgottl /. folian fífaie 16. Protein Targeting 5. Protein Kinases S!eih\ VI rjuitieu 17. Eukaryotic mRNA Processing 6. RNA-Protein Interactions Ailrinii Krtvm'r Kuo+fti Nti^ai muí torn IV. Mattaf 18. Genomic Imprinting 7. DNA-Protein: Structural Interactions Wolt'Retk tiiut Azttv surant Pai'ttiM LI if feu 19. Oncogenes and Tumour Suppressors Gotiioft Petetytutii Kateu Vouxiett 8. Mobile Genetic Element»» 20. Dynamics of Cell Divisi Shan/ti A. imiotrottit Oavut M Giooer 9. Chromalin Structure and Gene Expression Sarah C. K H^ta 21. Prokaryotic Gene Expression 10. Cell Cycle Control s.wii/i Ha:tother^ (7///S Hu!i l)trt<au and P. .VI. (TIV.-'JV 22. DNA Recombination and Repair 11. Molecular Immunology (Second Edition) Poní I. Snntluuttt Christopher /. /cwrs >py( hted r D NA R e c o m b i n a t i on and Repair EDITED BY Paul J. Smith and Christopher J. Jones Department of Pathology University of Wales College of Medicine Cardiff Wales OXFORD U N I V E R S I TY PRESS This mok has been printed digitally in order to ensure its continuing availability OXFORD UNIVERSITY PRESS Great Clarendon Street Oxford 0X2 6DP Oxford University Press is a department of the University of Oxford. It furthers the University's objective of excellence in research, scholarship. and education by publishing worldwide in Oxford New York Auckland Bangkok Buenos Aires Cape Town Chennai Dares Salaam Delhi Hong Kong Istanbul Karachi Kolkata Kuala Lumpur Madrid Melbourne Mexico City Mumbai Nairobi Sao Paulo Shanghai Singapore Taipei Tokyo Toronto with an associated company in Berlin Oxford is a registered trade mark of Oxford University Press in the UK and in certain other countries Published in the United States by Oxford University Press Inc., New York © Oxford University Press, 1999 The moral rights of the author have been asserted Database right Oxford University Press (maker) First published 1999 Reprinted 2002 All rights reserved. No part of this publication may be reproduced» stored in a retrieval system, or transmitted, in any forra or by any means, without the prior permission in writing of Oxford University Press. or as expressly permitted by law. or under terms agreed with the appropriate reprographics rights organization. Enquiries concerning reproduction outside the scope of the above should be sent to the Rights Department. Oxford University Press, at the address above You must not circulate this book in any other binding or cover and you must impose this same condition on any acquirer A catalogue record for this book is available from the British Library library of Congress Cataloging in Publication Data DNA recombination and repair/edited by Paul J. Smith and Christopher J. Jones. (Frontiers in molecular biology; 22) Includes bibliographical references and index. 1. DNA repair. 2. Genetic recombination. I. Smith. Paul J. (Paul James), 1953-. II. Jones. Christopher J. (Christopher John). 1965-, III. Series. QH467.D156 1999 572.86459—dc21 99-32315 ISBN 0-19- 963707- 5 (Hbk) ISBN 0-19-963706-7 I Pbk) pyr hted Preface All organisms whether of single or multicellular origin invest in the preservation of the integrity of their genetic material. For a number of years there was a tacit acceptance by the wider scientific community that there must be mechanisms in place to maintain genomic stability. Furthermore, there was an expectation that studying cells under stress, particularly after the induction of DNA damage, would help to uncover the cellular tactics involved. However, many researchers were dis­ mayed by the lack of information on the underlying processes which could support such mechanisms and the need to describe pathways in nebulous terms. The discovery of the significant overlap of DNA repair mechanisms and basic cellular transactions such as DNA replication and basal transcription gave the field new impetus. The journal Science recognized years of careful and patient research when awarding DNA repair the rather cumbersome title 'Molecule of the Year' in 1994. With the identification of repair genes and characterization of their biochemical activities it is becoming increasingly apparent that lesion handling strategies lie at the heart of the cell's integrated response to a variety of stresses. No short book can address the myriad of issues that have projected the cellular processes of DNA repair and recombination to centre stage for so many researchers working in what were originally thought to be disparate fields. This publication has attempted to highlight a selection of some of the issues currently at the frontiers of our understanding of these processes. Although repair was originally viewed as a process that prevented the 'fixation' of DNA lesions, limiting chromosome ¿aberrations and mutation, it is now realistic to view DNA repair as only one facet of the cellular response to DNA damage. As such repair must be integrated with other pathways to effect physiologically and genetic­ ally satisfactory outcomes for the individual cell, affected tissue system, and organ­ ism. It is becoming increasingly clear that the fidelity of these integrated responses is affected by the accrual of some of the genetic lesions that constitute the multistep progression typical of neopiasia. The cancer predisposition disorders offer various insights into the consequences of the dysfunction of integration. Thus at many points the chapter authors have touched upon the relevance of DNA repair and recombina­ tion for human ill health, in particular cancer. Integration of DNA repair with other cellular processes has occurred throughout evolution, linking pathways for stress signalling, adaptive responses, recombination, recovery mechanisms, cell-cycle delay, transcription and replication, and not least the molecular guillotine of programmed cell death, apoptosis. Although clearly im­ portant to the resolution of stress responses in normal and tumour tissues, the molecular pathways for apoptosis induction are not formally considered in this book but are clearly referenced where appropriate. pyr hted vi PREFACE The book starts with the vital issue of DNA structure and folding dynamics, which eventually all processes involving protein-DNA interactions must address. David Leach's introductory chapter on molecular processing of DNA folding anomalies in Eschcrichii) coii explores the consequences of different DNA structures and repeat sequence modification, leading to a discussion on the inhibition of DNA replication and initiation of homologous recombination by SbcCD protein. Developing the relationships between double-strand break repair and V(D)J recombination the chapter by Belinda Singleton and Penny Jeggo considers how the important features of recognition and cleavage of signal sequences impact upon double-strand break repair, with implications for homologous recombination and non-homologous end- joining. The following two chapters consider different strategies for dealing with DNA lesions or mismatches. The ability of £. col i and yeast cells to enact translesion replication, 'usually a strategy of last resort' is examined in detail in the chapter by Christopher Lawrence and Roger Woodgate, with speculations on translesion repli­ cation in humans. Bacterial mismatch repair is briefly discussed in the chapter by Peter Karran and Margherita Bignami. The dramatic role of mismatch repair in human cancers is dealt with in more detail together with an important overview of areas ripe for the future study, such as the linkages between mismatch repair, transcription-coupled excision repair and recombinational repair. Again this chapter echoes the need to view the responses to DNA damage as an integrated response with a discussion of mismatch repair, cell-cycle checkpoints, and apoptosis. One of the great success stories in DNA repair research, resulting from the tenacious work of many groups, has been the elucidation of much of the enzymology of excision repair. An excellent chapter by Hanspeter Naegeli explores the complex enzymology of human nucleotide excision repair, highlighting the substrate dis­ crimination problem and potential sensors. This discovery, now a paradigm for the selective repair of DNA lesions for biological advantage, is discussed in an overview of transcription-coupled repair and global genome repair in yeast and h u m a ns by Marcel Tijsterman, Richard Verhage, and jaap Brouwer. The authors have also ex­ plored the connection between nucleotide excision repair and other repair pathways such as mismatch repair. Along with xeroderma pigmentosum, the rare cancer- prone disorder ataxia-telangiectasia has acted to reveal the complexity of the re­ sponses of human cells to DNA damage, and the chapter by Martin Lavin and Kum Kum Khanna details the nature of the ATM protein and gene family. The ATM story has, perhaps more than any other, served to reveal the multiple levels at which stress responses integrate with proliferation control. The final chapter by Paul Smith and Chris Jones takes up the theme of the integra­ tion of DNA repair into other cellular pathways by viewing the field primarily from the perspective of the tumour suppressor gene product p53. In doing so this chapter echoes themes developed in other chapters, including a perspective on cancer predisposition in the general population. In particular, the overview touches upon the induction, processing, and repair of DNA damage and the integration of these events with proliferation control. One area addressed is the spectrum of unusual pyr htedrr..:.. PREFACE vi i forms of DNA damage induced by anticancer agents and the consequences for DNA repair and drug resistance, since an expanding area of anticancer research involves the identification of specific repair inhibitors. Importantly, the 'physiological' role of endogenous damage induction, as a programmed route for the development of senescence barriers to continuous cell proliferation, is highlighted through the events controlling telomere dynamics. We thank the authors for responding to our initial suggestions with vigour, and expanding upon the themes in a manner that reflects the exciting nature of research in this field, and connects with subjects addressed in other publications in the 'Frontier*' series. Cardiff PJ.S August 1999 CJ.J iqhted * pyr htedrr..:.. Contents List of contributors XV \bbreviatiotis # » X1UL ¿ 1 Molecular processing of DNA folding anomalies in 1 D A V ID R F I P A TH 1. Introduction 1 2. Folding anomalies in DNA 1 2.1 Hairpin DNA I 2.2 Pseudo-hairpin DNA and S-DNA 2.3 H-DNA *H-DNA, and nodule DNA 4 ;-PNA h. 2.5 Quadruplex DNA h 3. Deletions at direct repeats stimulated by closely spaced inverted repeats b 4. Duplications and i n v e r s i o ns stimulated by closely spaced inverted repeats s 5. Deletions and amplifications of triplet repeats 9 6. I n h i b i t i on of DNA replication and initiation of h o m o l o g o us recombination by SbcCD protein 9 7. Conclusions Ml A c k n o w l e d g e m e n ts 11 References 12 2 Double-strand break repair and V(D)J recombination ib BELINDA K SINGLETON AND PENNY A. IEGCO action it 2. V(D)J recombination ib 2.1 Recognition and cleavage of the signal sequences 17 2.2 Processing and joining the dsbs 17

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