DNA Repair Disorders
This book focuses on the clinical aspects of DNA repair disorders. Nucleotide excision repair is an important pathway for humans, as it is involved in biologically fundamental functions. This work presents clinical features together with the pathogenesis
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DNA Repair Disorders
Chikako Nishigori • Kaoru Sugasawa Editors
DNA Repair Disorders
Editors Chikako Nishigori Department of Dermatology Graduate School of Medicine, Kobe University
Kobe Japan
Kaoru Sugasawa Biosignal Research Center Kobe University Kobe Japan
ISBN 978-981-10-6721-1 ISBN 978-981-10-6722-8 (eBook) https://doi.org/10.1007/978-981-10-6722-8 Library of Congress Control Number: 2018959112 © Springer Nature Singapore Pte Ltd. 2019 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, 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. The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Singapore Pte Ltd. The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore
Preface
Xeroderma pigmentosum (XP) is an autosomal recessive hereditary photosensitive disease, in which patients display extreme hypersensitivity to ultraviolet radiation (UVR) because of the deficiency in the ability to repair the UVR-induced DNA lesions. Although the existence of the disease had been known since the first case report on XP by a dermatologist, Kaposi, in 1883, the cause of XP was at length discovered in 1968, 85 years after the first case report. This year marks the 50th anniversary of the discovery of the cause of XP, a deficiency in nucleotide excision repair (NER), by James E. Cleaver. NER is an indispensable DNA repair mechanism for all living things on earth to remove various forms of DNA lesions from their genomic DNA, including UVR-induced DNA lesions, such as cyclobutane pyrimidine dimers and (6-4)photoproducts. In this sense, NER involves in an essential mechanism for living things and recently it has been shown that NER is closely involved in the biologically fundamental role such as transcription and replication. Therefore the deficiency in NER results in a disastrous condition. In this book we focused on the clinical aspects o
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