Chapter category: DNA Surveillance and Repair
Animal Models of Xeroderma Pigmentosum
Molecular Mechanisms of Xeroderma Pigmentosum
Edited by: Shamim I. Ahmad and Fumio HanaokaISBN: 978-0-387-09598-1
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Chapter authors:
Xue-Zhi Sun, Rui Zhang, Chun Cui, Yoshi-Nobu Harada, Setsuji Hisano, Yeunhwa Gu, Yoshihiro Fukui and Hidenori Yonehara
Xeroderma pigmentosum (XP) is a rare autosomal disorder characterized by hypersensitivity of the skin to sunlight specifically to ultraviolet (UV) which can lead to high rate of susceptibility to skin cancer and other kinds of neurodegenerative problems. Compared to normal individuals, XP patients have a more than 1000‑fold increased risk of developing skin cancer on sun‑exposed areas of their body. Genetic and molecular analyses have revealed that the repair of UV‑induced DNA damage is impaired in XP patients owing to mutations in genes that form part of a DNA‑repair pathway known as nucleotide excision repair (NER). XP is, therefore, regarded as a convincing human example of the link between DNA repair deficiency and cancer risk. However, this relationship has not been examined in detail in humans due to the limited number of XP patients and their frequent early death due to skin cancer and neurological problems. For these reasons are required the generation of equivalent animal models to determine their exact molecular mechanisms.
Xue-Zhi Sun
National Institute of Radiological Sciences
Rui Zhang
Chun Cui
Yoshi-Nobu Harada
Setsuji Hisano
Yeunhwa Gu
Yoshihiro Fukui
Hidenori Yonehara
Additional chapters from this book:
Historical Aspects of Xeroderma pigmentosum and Nucleotide Excision Repair
James Cleaver
The discovery that xeroderma pigmentosum was a sun‑sensitive hereditary human disease that was deficient in DNA repair was made when research into the fundamental mechanisms of nucleotide excisi...
XPA Gene, its Product and Biological Roles
Ulrike Camenisch and Hanspeter Nägeli
The 31 kDa XPA protein is part of the core incision complex of the mammalian nucleotide excision repair (NER) system and interacts with DNA as well as with many other NER subunits. In the absence of X...
Xeroderma Pigmentosum and Skin Cancer
Leela Daya-Grosjean
The hypersensitivity of DNA repair deficient xeroderma pigmentosum (XP) patients to solar irradiation results in the development of high levels of squamous and basal cell carcinomas as well as maligna...
XPB and XPD between Transcription and DNA Repair
Brian D. Beck, Dae-Sik Hah and Suk-Hee Lee
Xeroderma pigmentosum group B and D genes (XPB and XPD respectively) are components of the transcription factor IIH (TFIIH), a nine‑subunit complex involved in transcription initiation by RNA po...
Clinical Features of Xeroderma Pigmentosum
Ulrich R. Hengge and Steffen Emmert
Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. Albert Neisser was the first to report neurological abnormalities associated with XP in 1883. XP is an autosomal recessive d...
XPC: Its Product and Biological Roles
Kaoru Sugasawa
The XPC protein is a component of a heterotrimeric complex that is essential for damage recognition in a nucleotide excision repair subpathway that operates throughout the genome. Biochemical analys...
XPF/ERCC4 and ERCC1: Their Products and Biological Roles
Lisa McDaniel and Roger A. Schultz
At the time of writing, a general search of the literature reveals 259 references that specifically refer to XPF/ERCC4. This puts XPF/ERCC4 around the half way point in a ranking for each of the XP gr...
Other Proteins Interacting with XP Proteins
Steven M. Shell and Yue Zou
Genetic defects in Nucleotide excision repair (NER) lead to the clinical disorder Xeroderma pigmentosum (XP) in humans which is characterized by dramatically increased sensitivity to UV light and a pr...
The Nucleotide Excision Repair of DNA in Human Cells and Its Association with Xeroderma Pigmentosum
Alexei Gratchev
Throughout their lifespan all free‑living organisms encounter diverse chemical and physical environmental and endogenous factors leading to DNA damage. Since DNA is a highly reactive macromolecu...
The XPE gene of Xeroderma Pigmentosum, Its Product and Biological Roles
Drew Bennett and Toshiki Itoh
Xeroderma Pigmentosum (XP) is an inheritable genetic disorder in which patients become very sensitive to ultraviolet (UV) light exposure and prone to skin cancer. Its genetics are complex and multial...
Animal Models of Xeroderma Pigmentosum
Xue-Zhi Sun, Rui Zhang, Chun Cui, Yoshi-Nobu Harada, Setsuji Hisano, Yeunhwa Gu, Yoshihiro Fukui and Hidenori Yonehara
Xeroderma pigmentosum (XP) is a rare autosomal disorder characterized by hypersensitivity of the skin to sunlight specifically to ultraviolet (UV) which can lead to high rate of susceptibility to skin...
Xeroderma Pigmentosum, Its Overlap with Trichothiodystrophy, Cockayne Syndrome and Other Progeroid Syndromes
W. Clark Lambert, Claude E. Gagna and Muriel W. Lambert
Although this volume is devoted to xeroderma pigmentosum, there are, in fact, at least three disorders, xeroderma pigmentosum (XP), trichothiodystrophy, (TTD) and Cockayne syndrome (CS), the etiopatho...
Roles of Oxidative Stress in Xeroderma Pigmentosum
Masaharu Hayashi
Oxidative stress, tissue damage caused by excessive free radicals, is implicated in aging, carcinogenesis, atherosclerosis and neurodegeneration. In xeroderma pigmentosum (XP) and Cockayne syndrome (C...
Progress and Prospects of Xeroderma Pigmentosum Therapy
Alain Sarasin
Further to a full description of clinical features of Xeroderma Pigmentosum (XP) in Chapter 2, this disease is characterized by dry skin, hypo and hyper‑pigmentation, actinic keratosis and skin ...
Xeroderma Pigmentosum Variant, XP-V: its Product and Biological Roles
Chikahide Masutani, Fumio Hanaoka and Shamim I. Ahmad
Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder first reported in 1874 by Hebra and Kaposi1 and now known to involve a number of phenotypic characteristics, including photoph...
XPG: Its Products and Biological Roles
Orlando Scharer
Xeroderma pigmetosum patients of the complementation group G are rare. One group of XP-G patients displays a rather mild and typical XP phenotype. Mutations in these patients interfere with the functi...
Population Distribution of Xeroderma Pigmentosum
Abdul Manan Bhutto and Sandra H. Kirk
Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disease caused by defects in the normal repair of DNA of various cutaneous and ocular cell types damaged by exposure to sunlight.1̴...
