Molecular Mechanisms of Xeroderma Pigmentosum

Hardcover | July 25, 2008

EditorShamim I. Ahmad, Fumio Hanaoka

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To understand the molecular mechanisms of XP, XP mouse models have been used, and mice deficient in XPA, XPC, XPD, XPG, XPF, and XPA/CSB have been produced and analysed. A recent elegant technique of targeting gene replacement in mouse embryonic stem cells has provided researchers with the ability to generate mutant mice defective in any specific gene(s). 32 Animals generated in this way display phenotypes and symptoms of XP patients, and have provided valuable tools to understand how and where the deficiency in DNA repair may lead to tumor formation, and also in studies of developmental biology and the aging process. Mouse studies have recently contributed to our understanding of the role of ink4a-Arf in increasing the risk of melanoma photocarcinogenesis in an XPC mutant background. As with many other genetic defects, the distribution of XP globally is not uniform. In most cases the frequency of mutation of a particular trait depends when and where a specific mutation arose, and the longer ago that is, the greater the frequency of mutant in the population unless some selective pressure prevailed. Another factor responsible for the high incidence of any mutation is consanguinity. One of the last chapters analyzes the world distribution of XP and shows that Japan has the highest incidence of XP and of varying complementation groups. After Japan perhaps Egypt suffers most from this inborn error. Here it is also shown that the most common complementation groups are XPA and XPC followed by XPV. XPB and XPE are least frequent. In a recent publication, however, 16 Japanese patients with XPV have been diagnosed and confirmed both clinically and at the cellular level. There is no evidence that interest in XP is waning, and this book should provide both the expert and novice researcher in the field with an excellent overview of the current status of research and pointers to future research goals.

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To understand the molecular mechanisms of XP, XP mouse models have been used, and mice deficient in XPA, XPC, XPD, XPG, XPF, and XPA/CSB have been produced and analysed. A recent elegant technique of targeting gene replacement in mouse embryonic stem cells has provided researchers with the ability to generate mutant mice defective in a...

Sham im I. Ahma d is a Senior Lecturer at Nottingham Trent University, Nottingham, England. After obtaining his MSc from Patna University, India, and his PhD from Leicester University, England, he joined Nottingham Polytechnic which subsequently became Nottingham Trent University. For about three decades he has been working in the fiel...

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Format:HardcoverDimensions:193 pages, 9.25 × 6.1 × 0.03 inPublished:July 25, 2008Publisher:Springer New YorkLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0387095985

ISBN - 13:9780387095981

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Table of Contents

1. Historical Aspects of Xeroderma Pigmentosum and Nucleotide Excision RepairJames E. CleaverAbstractHistorical Aspects2. Clinical Features of Xeroderma PigmentosumUlrich R. Hengge and Steffen EmmertBackgroundEpidemiologyDermatological ManifestationsOther Cancers in Xeroderma PigmentosumNeurological ManifestationsOphthalmological ManifestationsDifferential DiagnosesDiagnosis of XPManagementPrognosis3. Xeroderma Pigmentosum and Skin CancerLeela Daya-GrosjeanAbstractIntroductionXP Genetics and Skin CancerCutaneous Malignancies in XP PatientsThe Etiology of XP Skin Cancers and UV Hallmark MutationsTumor Suppressor GenesOncogene Activation in XP Skin TumorsModifications of the SHH Signaling Pathway Genes in XP BCCImpaired Immune Response in XP Patients and Human Papilloma VirusConclusions4. XPA Gene, Its Product and Biological RolesUlrike Camenisch and Hanspeter NägeliAbstractIntroductionXPA GeneXPA Protein and Interactions with other NER FactorsDNA-Binding Activity of XPA ProteinRecruitment of XPA to Active NER ComplexesRole of XPA-RPA InteractionsHow Does XPA Protein Contribute to DNA Damage Recognition?A Hypothesis for the Mechanism of Damage Verification by XPA5. XPB and XPD between Transcription and DNA RepairBrian D. Beck, Dae-Sik Hah and Suk-Hee LeeIntroductionStructure-Function RelationshipRole in TranscriptionRole in NEROther Roles of XPDLessons from Genetic Variations of XPB/XPD6. XPC: Its Product and Biological RolesKaoru SugasawaAbstractIntroductionXPC Is a Damage Recognition Factor in GG-NERRoles for Other SubunitsUbiquitination and Interaction with UV-DDBPossible Functions of XPC beyond NER7. The XPE gene of Xeroderma Pigmentosum, its product and biological rolesDrew Bennett and Toshiki ItohDiscovery and BackgroundExpression and Regulation of DDB proteinMouse ModelProtein InteractionsDNA Binding of the DDB complexCurrent Models of DDB functionConclusion8. XPF/ERC4 and ERC1: Their Products and Biological RolesLisa D. McDaniel and Roger A. SchultzIntroductionXPF Patients, ERC4 Mutant Cells and Gene CloningMouse Models with Relevance to XPF (Ercc1 and Ercc4)XPF in Nucleotide Excision RepairERCC4 in Immunoglobin SwitchingERC4 in Crosslink RepairERC4 in TelomeresSummary9. XPG: Its Products and Biological RolesOrlando D. SchärerAbstractIntroductionDiscovery and Cloning of XPGBiochemical Properties of the XPG ProteinThe Role of XPG in Nucleotide Excision RepairRoles of XPG Outside of Nucleotide Excision RepairXP-G Patients and Their Mutant AllelesXP Group G Patients without CSPatients with Severe XP and CS SymptomsXP-G Patients with Late-Onset CS SymptomsMouse Models with XPG DeficiencyConclusion10. Xeroderma pigmentosum variant, XP-V: its product and biological rolesChikahide Masutani, Fumio Hanaoka and Shamim I. AhmadIntroductionHuman DNA polymerasesXP-V gene and Its homologuesStructure and activities of polymeraseBypassing of unusual nucleotides by polMutation in POLH and Its effectsMechanism of mutagenesis in pol mutant Strains-The roles of other polymerasesInteraction of Pol with Other ProteinsMouse, Plant and Microbial Models for PolConclusion11. Other Proteins Interacting with XP ProteinsSteven M. Shell and Yue ZouIntroductionFinding DNA Damage: XPA, XPC and XPEPreparing the Site: XPB and XPDCutting It Out: XPG and XPFGetting Past It: XPVConclusions12. The Nucleotide Excision Repa ir of DNA in Human Cells and Its Association with Xeroderma PigmentosumAlexei GratchevIntroductionXP Associated Genes and Their Roles in NERNER Pathway13. Roles of Oxidative Stress in Xeroderma PigmentosumMasaharu HayashiAbstractReactive Oxygen Species and Oxidative StressOxidative Damage at the Cellular Level in Xeroderma PigmentosumOxidative Stress in Neurodegenerative DisordersNeuropathological Analysis on Oxidative Stress in the Brains of Autopsy Cases of Xeroderma Pigmentosum and Cockayne SyndromePreliminary ELISA Analysis of Oxidative Stress Markers in Urinary Samples from Patients with Xeroderma Pigmentosum14. Xeroderma Pigmentosum, its overlap with Trichothiodystrophy, Cockayne Syndrome and Other Progeroid SyndromesW. Clark Lambert, Claude E. Gagna and Muriel W. LambertIntroductionThe Ultraviolet-Sensitive Syndrome (UVSS)XP/Trichothiodystrophy (XP/TTD) Overlap SyndromesXP-D/TTD Overlap SyndromesXP/Cockayne Syndrome (XP/CS) Overlap SyndromesXP-B/CS Overlap Syndrome(s)XP-D/CS Overlap Syndrome(s)XP-G/CS Overlap Syndrome(s)XP-H/CS Overlap Syndrome(s)XP/CSB Overlap Syndrome(s)XP/Progeroid Overlap SyndromesXP-F/Progeroid Overlap syndrome15. Population Distribution of Xeroderma PigmentosumAbdul Manan Bhutto and Sandra H. KirkIntroductionPopulation DistributionGenetics and PopulationPopulation and Malignancy Type16. Progress and Prospects of Xeroderma Pigmentosum TherapyAlain SarasinIntroductionProtection Towards UV ExposureClassical XP TherapyConclusions17. Animal Models of Xeroderma PigmentosumXue-Zhi Sun, Rui Zhang, Chun Cui, Yoshi-Nobu Harada, Setsuji Hisano, Yeunhwa Gu, Yoshihiro Fukui and Hidenori YoneharaIntroductionXpa-Deficient Mouse ModelsXpc-Deficient Mouse ModelsXpg-Deficient Mouse ModelsErcc1/Xpf-Deficient Mouse ModelsXpd Mutant Mouse ModelsXpa /Csb Mutant Mouse ModelsIndex