Molecular Mechanisms of Xeroderma Pigmentosum

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Shamim I. Ahmad, Fumio Hanaoka
Springer Science & Business Media, Nov 30, 2008 - Science - 166 pages
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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. This title includes a chapter that analyzes the world distribution of XP and shows that Japan has the highest incidence of XP and of varying complementation groups.
 

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Contents

HISTORICAL ASPECTS OF XERODERMA PIGMENTOSUM AND NUCLEOTIDE EXCISION REPAIR
1
CLINICAL FEATURES OF XERODERMA PIGMENTOSUM
10
Dermatological Manifestations
11
Other Cancers in Xeroderma Pigmentosum
14
Ophthalmological Manifestations
15
Diagnosis of XP
16
Prognosis
17
XERODERMA PIGMENTOSUM AND SKIN CANCER
19
The Role of XPG in Nucleotide Excision Repair
85
Roles of XPG Outside of Nucleotide Excision Repair
86
XPG Patients and Their Mutant Alleles
87
XPG Patients with LateOnset CS Symptoms
89
Conclusion
90
XERODERMA PIGMENTOSUM VARIANT XPV ITS PRODUCTS AND BIOLOGICAL ROLES
93
Structure and Activities of Polymerase r
94
Mutation in POLH and Its Effects
96

XP Genetics and Skin Cancer
20
The Etiology of XP Skin Cancers and UV Hallmark Mutations
21
Tumor Suppressor Genes
22
Modifications of the SHH Signaling Pathway Genes in XP BCC
23
Impaired Immune Response in XP Patients and Human Papilloma Virus
24
XPA GENE ITS PRODUCT AND BIOLOGICAL ROLES
28
XPA Gene
29
DNABinding Activity of XPA Protein
31
Recruitment of XPA to Active NER Complexes
32
Role of XPARPA Interactions
33
A Hypothesis for the Mechanism of Damage Verification by XPA
34
XPB AND XPD BETWEEN TRANSCRIPTION AND DNA REPAIR
39
Role in Transcription
40
Role in NER
41
Other Roles of XPD
42
Lessons from Genetic Variations of XPBXPD
43
XPC ITS PRODUCT AND BIOLOGICAL ROLES
47
Roles for Other Subunits
50
Ubiquitination and Interaction with U VDDB
51
Possible Functions of XPC beyond NER
52
THE XPE GENE OF XERODERMA PIGMENTOSUM ITS PRODUCT AND BIOLOGICAL ROLES
57
Expression and Regulation of DDB Protein
58
Mouse Model
59
DNA Binding of the DDB Complex
60
Current Models of DDB Function
61
Conclusion
63
XPFERCC4 AND ERCC1 THEIR PRODUCTS AND BIOLOGICAL ROLES
65
Mouse Models with Relevance to XPF Erccl and Ercc4
68
XPF in Nucleotide Excision Repair
69
ERCC4 in Immunoglobin Switching
71
ERCC4 in Crosslink Repair
72
ERCC4 in Telomeres
74
Summary
75
XPG ITS PRODUCTS AND BIOLOGICAL ROLES
83
Biochemical Properties of the XPG Protein
84
Mechanism of Mutagenesis in Pol 𝜂 Mutant Strains The Roles of Other Polymerases
97
Mouse Plant and Microbial Models for Pol 𝜂
98
Conclusion
99
OTHER PROTEINS INTERACTING WITH XP PROTEINS
103
XPB and XPD
105
XPG and XPF
107
XPV
108
THE NUCLEOTIDE EXCISION REPAIR OF DNA IN HUMAN CELLS AND ITS ASSOCIATION WITH XERODERMA PIGMENTOSUM
113
XP Associated Genes and Their Roles in NER
115
NER Pathway
116
ROLES OF OXIDATIVE STRESS IN XERODERMA PIGMENTOSUM
120
Oxidative Damage at the Cellular Level in Xeroderma Pigmentosum
121
Oxidative Stress in Neurodegenerative Disorders
122
in Urinary Samples from Patients with Xeroderma Pigmentosum
124
XERODERMA PIGMENTOSUM ITS OVERLAP WITH TRICHOTHIODYSTROPHY COCKAYNE SYNDROME AND OTHER PROGEROID SYN...
128
The UltravioletSensitive Syndrome UVSS
129
XPTrichothiodystrophy XPTTD Overlap Syndromes
130
XPDTTD Overlap Syndromes
131
XPBCS Overlap Syndromes
132
XPDCS Overlap Syndromes
133
XPHCS Overlap Syndromes
134
POPUILATION DISTRIBUTION OF XERODERMA PIGMENTOSUM
138
Genetics and Population
139
Population and Malignancy Type
140
PROGRESS AND PROSPECTS OF XERODERMA PIGMENTOSUM THERAPY
144
Classical XP Therapy
145
Conclusions
149
ANIMAL MODELS F XERODERMA PIGMENTOSUM
152
XPCDeficient Mouse Models
153
XPGDeficient Mouse Models
154
ERCClXPFDeficient Mouse Models
155
XPD Mutant Mouse Models
158
INDEX
161
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About the author (2008)

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 field of DNA damage and repair particularly on Near UV photolysis of biological compounds, production of free radicals and their implications on human health including skin cancer and xeroderma pigmentosum. Also compounds inducing double strand DNA damage, 8-methoxypsoralen +UVA, mitomycin C, and nitrogen mustard have been under investigation including their importance in psoriasis treatment and Fanconi anemia. Additional research included: thymineless death in bacteria, genetic control of nucleotides catabolism, development of anti-AIDS drug, control of microbial infections of burns, phages of thermophiles and microbial flora of Chernobyl after the accident. In 2003 he received a prestigious “Asian Jewel Award” in Britain for “Excellence in Education”. He is also the Editor of the book, Molecular Mechanisms of Fanconi Anemia, published by Landes Bioscience.

Fumio Hanaoka is a Professor at the Graduate School of Frontier Biosciences, Osaka University and the Program Leader of the Solution Oriented Research for Science and Technology of the Japan Science and Technology Agency, Japan. He received his undergraduate and PhD degrees from the University of Tokyo and did his Postdoctoral at McArdle Laboratory for Cancer Research, University of Wisconsin, Madison, USA. He joined the University of Tokyo in 1980 and in 1989 moved to RIKEN Institute as the Head of the Radiation Research Laboratory. In 1995, he joined the Institute for Molecular and Cellular Biology (now known as Graduate School of Frontier Biosciences), Osaka University. His main research interests include the molecular mechanisms of DNA replication and repair in eukaryotes. He served as the President of Molecular Biology Society of Japan (2005-2007) and has been serving on several editorial boards, including Journal of Biological Chemistry and Genes to Cells.

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