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 e-ISBN 978-981-10-6722-8
https://doi.org/10.1007/978-981-10-6722-8
Library of Congress Control Number: 2018959112
Springer Nature Singapore Pte Ltd. 2019
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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 of DNA repair disorders. We would like to delineate the outcome of the deficiency of DNA repair so that we will come to know the essence of the DNA repair mechanisms. The authors are experts in this subject, and the publication of this book is timely because a Nobel Prize was given to the scientists who discovered the mechanisms of the NER, and the readers may be interested in what will become of individuals who are deficient in DNA repair.
Chikako Nishigori
Kaoru Sugasawa
Kobe, Japan Kobe, Japan
Contents
Kaoru Sugasawa
Chaowan Guo and Tomoo Ogi
Fumio Kanda , Takehiro Ueda and Chikako Nishigori
Takeshi Fujita and Daisuke Yamashita
Chikako Nishigori and Eiji Nakano
Shinichi Moriwaki
Masaharu Hayashi
Hiva Fassihi , Isabel Garrood , Natalie Chandler , Shehla Mohammed , Alan R. Lehmann and Robert Sarkany
Masaya Kubota
Donata Orioli and Miria Stefanini
Hideo Kaneko
Chikahide Masutani and Fumio Hanaoka
Junya Kobayashi
Deborah Tamura , Ryusuke Ono , John J. DiGiovanna and Kenneth H. Kraemer