Molecular mechanisms of xeroderma pigmentosum

摘要: 1. Historical Aspects of Xeroderma Pigmentosum and Nucleotide Excision Repair James E. Cleaver Abstract 2. Clinical Features Ulrich R. Hengge Steffen Emmert Background Epidemiology Dermatological Manifestations Other Cancers in Neurological Ophthalmological Differential Diagnoses Diagnosis XP Management Prognosis 3. Skin Cancer Leela Daya-Grosjean Introduction Genetics Cutaneous Malignancies Patients The Etiology UV Hallmark Mutations Tumor Suppressor Genes Oncogene Activation Tumors Modifications the SHH Signaling Pathway BCC Impaired Immune Response Human Papilloma Virus Conclusions 4. XPA Gene, Its Product Biological Roles Ulrike Camenisch Hanspeter Nageli Gene Protein Interactions with other NER Factors DNA-Binding Activity Recruitment to Active Complexes Role XPA-RPA How Does Contribute DNA Damage Recognition? A Hypothesis for Mechanism Verification by 5. XPB XPD between Transcription Brian D. Beck, Dae-Sik Hah Suk-Hee Lee Structure-Function Relationship Lessons from Genetic Variations XPB/XPD 6. XPC: Kaoru Sugasawa XPC Is a Recognition Factor inGG-NER Subunits Ubiquitination Interaction UV-DDB Possible Functions beyond 7. XPE gene Pigmentosum, its product biological roles Drew Bennett Toshiki Itoh Discovery Expression Regulation DDB protein Mouse Model Binding complex Current Models function Conclusion 8. XPF/ERC4 ERC1: Their Products Lisa McDaniel Roger A. Schultz XPF Patients, ERC4 Mutant Cells Cloning Relevance (Ercc1 Ercc4) ERCC4 Immunoglobin Switching Crosslink Telomeres Summary 9. XPG: Orlando Scharer XPG Biochemical Properties Outside XP-G Alleles Group G without CS Severe Symptoms Late-Onset Deficiency 10. pigmentosum variant, XP-V: Chikahide Masutani, Fumio Hanaoka Shamim I. Ahmad polymerases XP-V homologues Structure activities polymerase Bypassing unusual nucleotides pol Mutation POLH effects mutagenesis mutant Strains-The Pol Proteins Mouse, Plant Microbial