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 thefrequency 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 itis 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 thefield with an excellent overview of the current status of research. INDICE: From the contents 1. Historical Aspects of Xeroderma Pigmentosum and Nucleotide Excision Repair. 2. Clinical Features of Xeroderma Pigmentosum. 3. Xeroderma Pigmentosum and Skin Cancer. 4. XPA Gene, Its Product and Biological Roles. 5. XPB and XPD between Transcription and DNA Repair. 6. XPC: Its Product and Biological Roles. 7. The XPE gene of Xeroderma Pigmentosum, its product and biological roles. 8. XPF/ERC4 and ERC1: Their Products and Biological Roles. 9. XPG: Its Products and Biological Roles. 10. Xeroderma pigmentosum variant, XP-V: its product and biological roles. 11. Other Proteins Interacting with XP Proteins. 12. The Nucleotide Excision Repa ir of DNA in Human Cells and Its Association with Xeroderma Pigmentosum. 13. Roles of Oxidative Stress inXeroderma Pigmentosum. 14. Xeroderma Pigmentosum, its overlap with Trichothiodystrophy, Cockayne Syndrome and Other Progeroid Syndromes. 15. Population Distribution of Xeroderma Pigmentosum.
- ISBN: 978-0-387-09598-1
- Editorial: Springer
- Encuadernacion: Cartoné
- Páginas: 190
- Fecha Publicación: 01/12/2008
- Nº Volúmenes: 1
- Idioma: Inglés