DNA Repair Disorders

Description

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 of DNA repair disorders such as Xertoderma Pigmentosum (XP). Studies on animal models are included as well. Clinical feature characteristics of each clinical subtype of XP are depicted according to the genotype, giving accurate and detailed information about the clinical features in terms of gene alterations, change of protein structure, and dysfunction in some of the repair pathways. This book is unique in that it provides detailed information on clinical features from more than 100 patients with XP-A, which is characterized by very severe manifestation of skin photosensitivity and neurological dysfunction. It will give readers important knowledge for understanding the concept and molecular mechanisms of DNA repair disorders. It also describes how to treat and care for patients with XP based on vast experience in clinical practice. DNA Repair Disorders will be a useful resource not only for physicians and basic scientists who are interested in and/or take care of patients with DNA repair disorders, but also dermatologists, neurologists, and researchers in the field of radiation biology and photobiology. Front Matter ....Pages i-viii Molecular Mechanism of DNA Damage Recognition for Global Genomic Nucleotide Excision Repair: A Defense System Against UV-Induced Skin Cancer (Kaoru Sugasawa)....Pages 1-23 Disorders with Deficiency in TC-NER: Molecular Pathogenesis of Cockayne Syndrome and UV-Sensitive Syndrome (Chaowan Guo, Tomoo Ogi)....Pages 25-40 Neurological Symptoms in Xeroderma Pigmentosum (Fumio Kanda, Takehiro Ueda, Chikako Nishigori)....Pages 41-47 Hearing Impairment in Xeroderma Pigmentosum: Animal Models and Human Studies (Takeshi Fujita, Daisuke Yamashita)....Pages 49-58 Epidemiological Study of Xeroderma Pigmentosum in Japan: Genotype-Phenotype Relationship (Chikako Nishigori, Eiji Nakano)....Pages 59-76 Prenatal Diagnosis of Xeroderma Pigmentosum (Shinichi Moriwaki)....Pages 77-85 Neurological Disorders and Challenging Intervention in Xeroderma Pigmentosum and Cockayne Syndrome (Masaharu Hayashi)....Pages 87-98 Xeroderma Pigmentosum in the UK (Hiva Fassihi, Isabel Garrood, Natalie Chandler, Shehla Mohammed, Alan R. Lehmann, Robert Sarkany)....Pages 99-114 Cockayne Syndrome: Clinical Aspects (Masaya Kubota)....Pages 115-132 Trichothiodystrophy (Donata Orioli, Miria Stefanini)....Pages 133-159 Rothmund–Thomson Syndrome (Hideo Kaneko)....Pages 161-168 Translesion DNA Synthesis (Chikahide Masutani, Fumio Hanaoka)....Pages 169-189 Ataxia-Telangiectasia and Nijmegen Breakage Syndrome (Junya Kobayashi)....Pages 191-201 Management of Xeroderma Pigmentosum (Deborah Tamura, Ryusuke Ono, John J. DiGiovanna, Kenneth H. Kraemer)....Pages 203-221