Molecular mechanisms of xeroderma pigmentosum
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Bibliographic Information
Molecular mechanisms of xeroderma pigmentosum
（Advances in experimental medicine and biology, v. 637）
Springer Science+Business Media , Landes Bioscience, c2008
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Includes bibliographical references and index
Description and Table of Contents
Description
Xeroderma pigmentosum (XP), meaning parchment skin and pigmentary dist- bance, is a rare and mostly autosomal recessive genetic disorder that was originally named by two dermatologists, the Austrian Ferdinand Ritter von Hebra and his H- garian son in law Moritz Kaposi in 1874i and 1883. 2 The earliest published record (PubMed) available on the internet is a publication in 1949 by Ulicna Zapletalova under the title, "Contribution to the pathogenesis of xeroderma pigmentosum". ^ It was in the late 1960s when James Cleaver (contributor of Chapter 1 of this book), at the University of California, San Francisco, while working on nucleotide excision repair (NER), read an article in a local newspaper about XP and soon after obtained a skin biopsy from a patient suffering from XP that showed that cells from it were deficient in NER. Thus, his studies led to the discovery that indeed this genetic defect was due to mutations in DNA repair genes that imbalance the NER pathway. ^. s The discovery paved the way for further exploration of the link between DNA damage, mutagenesis, neoplastic transformation and DNA repair diseases.
Since then, 4,088 papers, incl- ing excellent reviews, on XP are listed on the internet (PubMed data, February 2008), and an XP Society has been established in the USA (http://www. xps. org) and an XP Support Group in the United Kingdom (www. xpsupportgroup. org. uk).
Table of Contents
1. Historical Aspects of Xeroderma Pigmentosum and Nucleotide Excision Repair James E. Cleaver Abstract Historical Aspects 2. Clinical Features of Xeroderma Pigmentosum Ulrich R. Hengge and Steffen Emmert Background Epidemiology Dermatological Manifestations Other Cancers in Xeroderma Pigmentosum Neurological Manifestations Ophthalmological Manifestations Differential Diagnoses Diagnosis of XP Management Prognosis 3. Xeroderma Pigmentosum and Skin Cancer Leela Daya-Grosjean Abstract Introduction XP Genetics and Skin Cancer Cutaneous Malignancies in XP Patients The Etiology of XP Skin Cancers and UV Hallmark Mutations Tumor Suppressor Genes Oncogene Activation in XP Skin Tumors Modifications of the SHH Signaling Pathway Genes in XP BCC Impaired Immune Response in XP Patients and Human Papilloma Virus Conclusions 4. XPA Gene, Its Product and Biological Roles Ulrike Camenisch and Hanspeter Nageli Abstract Introduction XPA Gene XPA Protein and Interactions with other NER Factors DNA-Binding Activity of XPA Protein Recruitment of XPA to Active NER Complexes Role of XPA-RPA Interactions How Does XPA Protein Contribute to DNA Damage Recognition? A Hypothesis for the Mechanism of Damage Verification by XPA 5. XPB and XPD between Transcription and DNA Repair Brian D. Beck, Dae-Sik Hah and Suk-Hee Lee Introduction Structure-Function Relationship Role in Transcription Role in NER Other Roles of XPD Lessons from Genetic Variations of XPB/XPD 6. XPC: Its Product and Biological Roles Kaoru Sugasawa Abstract Introduction XPC Is a Damage Recognition Factor inGG-NER Roles for Other Subunits Ubiquitination and Interaction with UV-DDB Possible Functions of XPC beyond NER 7. The XPE gene of Xeroderma Pigmentosum, its product and biological roles Drew Bennett and Toshiki Itoh Discovery and Background Expression and Regulation of DDB protein Mouse Model Protein Interactions DNA Binding of the DDB complex Current Models of DDB function Conclusion 8. XPF/ERC4 and ERC1: Their Products and Biological Roles Lisa D. McDaniel and Roger A. Schultz Introduction XPF Patients, ERC4 Mutant Cells and Gene Cloning Mouse Models with Relevance to XPF (Ercc1 and Ercc4) XPF in Nucleotide Excision Repair ERCC4 in Immunoglobin Switching ERC4 in Crosslink Repair ERC4 in Telomeres Summary 9. XPG: Its Products and Biological Roles Orlando D. Scharer Abstract Introduction Discovery and Cloning of XPG Biochemical Properties of the XPG Protein The Role of XPG in Nucleotide Excision Repair Roles of XPG Outside of Nucleotide Excision Repair XP-G Patients and Their Mutant Alleles XP Group G Patients without CS Patients with Severe XP and CS Symptoms XP-G Patients with Late-Onset CS Symptoms Mouse Models with XPG Deficiency Conclusion 10. Xeroderma pigmentosum variant, XP-V: its product and biological roles Chikahide Masutani, Fumio Hanaoka and Shamim I. Ahmad Introduction Human DNA polymerases XP-V gene and Its homologues Structure and activities of polymerase Bypassing of unusual nucleotides by pol Mutation in POLH and Its effects Mechanism of mutagenesis in pol mutant Strains-The roles of other polymerases Interaction of Pol with Other Proteins Mouse, Plant and Microbial Models
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