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DNA REPAIR AND HUMAN HEALTH Edited by Sonya Vengrova DNA Repair and Human Health Edited by Sonya Vengrova Published by InTech Janeza Trdine 9, 51000 Rijeka, Croatia Copyright © 2011 InTech All chapters are Open Access distributed under the Creative Commons Attribution 3.0 license, which permits to copy, distribute, transmit, and adapt the work in any medium, so long as the original work is properly cited. After this work has been published by InTech, authors have the right to republish it, in whole or part, in any publication of which they are the author, and to make other personal use of the work. Any republication, referencing or personal use of the work must explicitly identify the original source. As for readers, this license allows users to download, copy and build upon published chapters even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. Notice Statements and opinions expressed in the chapters are these of the individual contributors and not necessarily those of the editors or publisher. No responsibility is accepted for the accuracy of information contained in the published chapters. The publisher assumes no responsibility for any damage or injury to persons or property arising out of the use of any materials, instructions, methods or ideas contained in the book. Publishing Process Manager Alenka Urbancic Technical Editor Teodora Smiljanic Cover Designer Jan Hyrat First published October, 2011 Printed in Croatia A free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechweb.org DNA Repair and Human Health, Edited by Sonya Vengrova p. cm. ISBN 978-953-307-612-6 free online editions of InTech Books and Journals can be found at www.intechopen.com Contents Preface IX Part 1 DNA Repair Mechanisms 1 Chapter 1 DNA Repair, Human Diseases and Aging 3 Vaidehi Krishnan, Baohua Liu and Zhongjun Zhou Chapter 2 Double Strand Break Signaling in Health and Diseases 47 Marie-jo Halaby and Razqallah Hakem Chapter 3 DNA Damage Repair and Cancer: The Role of RAD51 Protein and Its Genetic Variants 73 Augusto Nogueira, Raquel Catarino and Rui Medeiros Chapter 4 The Role of Error-Prone Alternative Non-Homologous End-Joining in Genomic Instability in Cancer 93 Li Li, Carine Robert and Feyruz V. Rassool Chapter 5 Nucleotide Excision Repair and Cancer 121 Joost P.M. Melis, Mirjam Luijten, Leon H.F. Mullenders and Harry van Steeg Chapter 6 Recombinant Viral Vectors for Investigating DNA Damage Responses and Gene Therapy of Xeroderma Pigmentosum 145 Carolina Quayle, Carlos Frederico Martins Menck and Keronninn Moreno Lima-Bessa Part 2 DNA Repair and Cancer 175 Chapter 7 DNA Damage, Repair and Misrepair in Cancer and in Cancer Therapy 177 Ana M. Urbano, Leonardo M. R. Ferreira, Joana F. Cerveira, Carlos F. Rodrigues and Maria C. Alpoim Chapter 8 DNA Repair, Cancer and Cancer Therapy 239 Mu Wang VI Contents Chapter 9 DNA Repair, Cancer and Cancer Therapy - The Current State of Art 279 Turgay Isbir, Berna Demircan, Deniz Kirac, Burak Dalan and Uzay Gormus Chapter 10 Application of UV-Induced Unscheduled DNA-Synthesis Measurements in Human Genotoxicological Risk Assessment 307 Anna Tompa, Jenő Major and Mátyás G. Jakab Chapter 11 Hypoxia Inhibits DNA Repair to Promote Malignant Progression 339 L. Eric Huang, Young-Gun Yoo, Minori Koshiji and Kenneth K.W. To Chapter 12 From the Molecular Biology to the Gene Therapy of a DNA Repair Syndrome: Fanconi Anemia 349 Paula Río, Susana Navarro and Juan A. Bueren Chapter 13 Fanconi Anemia/Brca Pathway and Head and Neck Squamous Cell Carcinomas 373 Shi-Long Lu Chapter 14 DNA Repair Deficiency Associated with Hematological Neoplasms 385 Panagiota Economopoulou, Vassiliki Pappa, Sotirios Papageorgiou, John Dervenoulas and Theofanis Economopoulos Chapter 15 DNA Repair in Acute Myeloid Leukemia and Myelodysplastic Syndromes 411 Anna Szmigielska-Kaplon and Tadeusz Robak Chapter 16 Therapeutic Modulation of DNA Damage and Repair Mechanisms in Blood Cells 419 Haiyan Wang, Shanbao Cai, Eva Tonsing-Carter and Karen E. Pollok Chapter 17 DNA Repair Perspectives in Thyroid and Breast Cancer: The Role of DNA Repair Polymorphisms 459 Susana N. Silva, Bruno Costa Gomes, José Rueff and Jorge Francisco Gaspar Chapter 18 DNA Mismatch Repair (MMR) Genes and Endometrial Cancer 485 Kenta Masuda, Kouji Banno, Megumi Yanokura, Iori Kisu, Arisa Ueki, Asuka Ono, Yusuke Kobayashi, Hiroyuki Nomura, Akira Hirasawa, Nobuyuki Susumu and Daisuke Aoki Contents VII Chapter 19 Human Apurinic/Apyrimidinic Endonuclease is a Novel Drug Target in Cancer 495 Rachel M. Abbotts, Christina Perry and Srinivasan Madhusudan Chapter 20 Disruption of Protein–DNA Interactions: An Opportunity for Cancer Chemotherapy 521 Tracy M. Neher, Wei Huang, Jian-Ting Zhang and John J. Turchi Chapter 21 Pharmacogenomic Approach of Telomerase in Cancer: Importance of End Zone Variability R. Catarino, A. Nogueira, A. Coelho and R. Medeiros Chapter 22 Differential Effects of the G-Quadruplex Ligand 360A in Human Normal and Cancer Cells 559 Christine Granotier and François D. Boussin Chapter 23 Pharmacogenetics of Cancer and DNA Repair Enzymes 597 Tahar van der Straaten, Leon Mullenders and Henk-Jan Guchelaar Part 3 DNA Repair and Aging 613 Chapter 24 Involvement of Histone PTMs in DNA Repair Processes in Relation to Age-Associated Neurodegenerative Disease 615 Chunmei Wang, Erxu Pi, Qinglei Zhan and Sai-ming Ngai Chapter 25 Transcriptional Functions of DNA Repair Proteins Involved in Premature Aging 629 Robin Assfalg and Sebastian Iben Part 4 DNA Damage and Disease 647 Chapter 26 DNA Damage and mRNA Levels of DNA Base Excision Repair Enzymes Following H 2 O 2 Challenge at Different Temperatures 649 Kyungmi Min and Susan E. Ebeler Chapter 27 Relationship Between DNA Damage and Energy Metabolism: Evidence from DNA Repair Deficiency Syndromes 661 Sarah Vose and James Mitchell Part 5 Infection, Inflammation and DNA Repair 683 Chapter 28 The Role of DNA Repair Pathways in Adeno-Associated Virus Infection and Viral Genome Replication / Recombination / Integration 685 Kei Adachi and Hiroyuki Nakai VIII Contents Chapter 29 Integration of the DNA Damage Response with Innate Immune Pathways 715 Gordon M. Xiong and Stephan Gasser Chapter 30 Non-Steroidal Anti-Inflammatory Drugs, DNA Repair and Cancer 743 Harpreet K. Dibra, Chris J. Perry and Iain D. Nicholl Chapter 31 Inhibition of DNA Polymerase λ, a DNA Repair Enzyme, and Anti-Inflammation: Chemical Knockout Analysis for DNA Polymerase λ Using Curcumin Derivatives 777 Yoshiyuki Mizushina, Masayuki Nishida, Takeshi Azuma and Masaru Yoshida [...]... by the SSB repair pathway whereas DSBs are repaired by the DSB repair systems, which itself could be either by homologous recombination (HR) or non-homologous end joining (NHEJ) pathway (Ciccia and Elledge, 2010) Fig 1 Summary of DNA repair pathways 3.1 Base excision repair and single strand break repair Base excision repair (BER) is the major pathway responsible for handling the mutagenic and cytotoxic... actions of DNA polymerase δ or ε, proliferating cell nuclear antigen (PCNA), RPA, and DNA ligase I (or a complex of XRCC 1and DNA ligase III) (Hanawalt and Spivak, 2008) 8 DNA Repair and Human Health Bulky lesions consisting of UV-induced pyrimidine dimers in transcribed regions can lead to RNA polymerase II stalling, evoking the activation of TCR In TCR, the stalled RNA polymerase is removed and DNA damage... cope with DNA damage and the manner in which a defective DNA damage response can lead to human disease and aging 2 The types and sources of DNA damage All livings cells of the human body have to constantly contend with DNA damage Due to its chemical structure itself, the DNA is sensitive to spontaneous hydrolysis which leads to damage in the form of abasic sites and base deamination Single strand breaks... action of the DNA repair pathways in the context of the whole organism Such integrative approach provides understanding of the disease mechanisms and is invaluable for improving diagnostics and prevention, as well as designing better therapies The central role of DNA repair in human health and well-being is illustrated by the reviews presented in this book Detailed descriptions of DNA repair pathways... have been identified in the nucleases APLF and SNM1 and in the cell cycle protein CHFR Once SSBs are detected, they undergo end processing, where the 3’ and/ or 5’ termini of SSBs are restored to conventional 3’hydroxyl and 5’ phosphate moieties for gap filling and DNA ligation to occur XRCC1 has a particularly important role during DNA end 6 DNA Repair and Human Health processing step, since XRCC1 directly... link between DNA damage repair and a number of diseases, such as cancers, Fanconi Anemia, Xeroderma pigmentosa and Alzheimer’s is analysed In addition, the role of DNA repair processes in ageing, viral infection and the link between inflammation and DNA repair is reviewed X Preface The chapters are tentatively assigned to sections, however, many reviews touch upon various aspects of DNA repair, so the... (O'Connell and Harper, 2007) Similar to GGR, the subsequent steps involve the binding of TFIIH and XPA/RPA to the lesion and the nucleases XPG and XPF/ERCC1 carry out the incision 3 and 5’ to the damaged lesion The generated oligonucleotide is removed and the gap is filled in by the combined action of DNA polymerases δ or ε, PCNA, RPA, and DNA ligase I or XRCC1/ DNA ligase III 3.4 DNA replication stress and. .. of DNA processing While NHEJ does not require DNA end resection, HR and alternative NHEJ pathways are dependent on end resection (Ciccia and Elledge, 2010) NHEJ is an error-prone process, where broken ends are recognised and sealed together and mainly occurs in G0, G1 and early S phase of the cell cycle and requires the DNA- PK (DNA protein kinase) complex and the Lig4 complex (Lieber, 2010) The DNA- PK... to stabilizing DNA ends, MRE11 has endonuclease and exonuclease activities which are important to mediate 5’-3’ resection along with CtIP to generate single strand DNA (ssDNA) ssDNA is coated by the ssDNA-binding protein, RPA which is a heterotrimeric complex (RPA1, RPA2, RPA3) that stabilizes ssDNA regions generated during both DNA replication, repair and recombination At the double strand break, the... genomic integrity against DNA DNA Repair, Human Diseases and Aging 17 damage induced by UV and UV mimetics It has been proposed that such linkages between light cycle and DNA repair can allow cells to respond appropriately to environmentallyinduced DNA damage ((Jackson and Bartek, 2009)) Described in greater detail below are the physiological roles of DDR in the immune system, meiosis and in the maintenance . DNA REPAIR AND HUMAN HEALTH Edited by Sonya Vengrova DNA Repair and Human Health Edited by Sonya Vengrova Published. IX Part 1 DNA Repair Mechanisms 1 Chapter 1 DNA Repair, Human Diseases and Aging 3 Vaidehi Krishnan, Baohua Liu and Zhongjun Zhou Chapter 2 Double Strand Break Signaling in Health and Diseases. of Cancer and DNA Repair Enzymes 597 Tahar van der Straaten, Leon Mullenders and Henk-Jan Guchelaar Part 3 DNA Repair and Aging 613 Chapter 24 Involvement of Histone PTMs in DNA Repair Processes