Molecular mechanisms of xeroderma pigmentosum
By: edited by Shamim I. Ahmad, Fumio Hanaoka.
Contributors: Ahmad, Shamim I.; Hanaoka, Fumio, 1946-
Series: Advances in experimental medicine and biology -- v. 637
Publisher: Springer Science+Business Media; Landes Bioscience
Published: 2008
Place of publication: New York, N.Y; Austin, Tex
Language: eng
ISBN-13: 9780387095981
Subjects: Xeroderma pigmentosum -- Molecular aspects; DNA repair; Xeroderma Pigmentosum -- genetics; DNA Repair Enzymes -- genetics; DNA Repair-Deficiency Disorders -- genetics; Xeroderma Pigmentosum -- therapy
Description: 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.
Notes: Includes bibliographical references and index.
Table of contents: title: Historical aspects of xeroderma pigmentosum and nucleotide excision repair / James E. Cleaver; title: Clinical features of xeroderma pigmentosum / Ulrich R. Hengge and Steffen Emmert; title: Xeroderma pigmentosum and skin cancer / Leela Daya-Grosjean; title: XPA gene : its product and biological roles / Ulrike Camenisch and Hanspeter Nogeli; title: XPB and XPD between transcription and DNA repair / Brian D. Beck, Dae-Sik Hah, and Suk-Hee Lee; title: XPC : its product and biological roles / Kaoru Sugasawa; title: The XPE gene of xeroderma pigmentosum : its product and biological roles / Drew Bennett and Toshiki Itoh; title: XPF/ERCC4 and ERCC1 : their products and biological roles / Lisa D. McDaniel and Roger A. Schultz; title: XPG : its products and biological roles / Orlando D. Schorer; title: Xeroderma pigmentosum variant, XPV : its product and biological roles / Chikahide Masutani, Fumio Hanaoka, and Shamim I. Ahmad; title: Other proteins interacting with XP proteins / Steven M. Shell and Yue Zou; title: The nucleotide excision repair of DNA in human cells and its association with xeroderma pigmentosum / Alexei Gratchev; title: Roles of oxidative stress in xeroderma pigmentosum / Masaharu Hayashi; title: Xeroderma pigmentosum : its overlap with trichothiodystrophy, Cockayne syndrome, and other progeroid syndromes / W. Clark Lambert, Claude E. Gagna, and Muriel W. Lambert; title: Population distribution of xeroderma pigmentosum / Abdul Manan Bhutto and Sandra H. Kirk; title: Progress and prospects of xeroderma pigmentosum therapy / Alain Sarasin; title: Animal models of xeroderma pigmentosum / Xue-Zhi Sun ... [et al.].