DNA Surveillance and Repair
Chapters
« previous | page 2 of 2 pagesProgress 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 cancers. The genetic defect in nucleotide excision repair (NER) and polymerase η (XP‑vari...
Protein‑Protein Interactions in Ataxia Telangiectasia
Steven M. Shell and Yue Zou
Ataxia telangiectasia (AT) is an early‑onset genetic disorder characterized by progressive neurondegeneration, chromosome instability and an extreme sensitivity to DNA damaging agents such as ionizing radiation.1‑3 An autosomal recessive disorder, AT occurs in approximately 1 out of 40,0...
Roles of Oxidative Stress in Xeroderma Pigmentosum
Masaharu Hayashi
Tissue damage caused by oxidative stress has been implicated in aging, carcinogenesis, atherosclerosis and neurodegeneration. In xeroderma pigmentosum (XP) and Cockayne syndrome (CS), oxidative stress is associated with promoted occurrence of skin cancers and progressive neurodegeneration, because d...
The Detection and Repair of Nucleotide Damage and Coupling to Major Cellular Regulatory Processes in Mammalian Cells
James E. Cleaver
DNA repair serves to restore two of the main macromolecular functions in the cell: DNA replication and transcription. If either are irrevocably blocked cell death in the form of apoptosis or permanent arrest ensues. Damage in the form of large modifications, pyrimidine dimers from UV light or ...
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 macromolecule, these damages may affect both bases and the sugar‑phosphate backbone and may lead to a sev...
The Physiological and Pathological Roles of Oxidative Damage to DNA in Relation to Life-Stage
Alberto Izzotti
Oxidative damage to DNA (ODD) is a common phenomenon occurring during all life stages in all aerobic organisms. To evaluate the biological significance of ODD, we monitored 8-hydroxy-2'-deoxyguanosine, lipophilic bulky DNA-adduct formation, and the expression of oxidative-stress related genes ...
The Role of Antioxidants in the Prevention of Oxidative Damage to Nucleic Acids
Peter Møller and Steffen Loft
It is commonly assumed that ingestion of antioxidants is associated with low levels of oxidatively damaged DNA although this is far from conclusive in human intervention trials. A collective interpretation is difficult because many studies lack sufficient control and have unrealistically hig...
The Role of Oxidative Damage to Nucleic Acids in the Pathogenesis of Neurological Disease
V. Prakash Reddy, Ayse Beyaz, George Perry, Marcus S. Cooke, Lawrence M. Sayre and Mark A. Smith
Oxidative stress involving reactive oxygen species (ROS) and reactive nitrogen species (RNS) is integral to the process of aging and age-related diseases such as Alzheimer disease (AD), Parkinson's disease, and amyotrophic lateral sclerosis (ALS). Oxidative stress-induced modification of nucle...
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 multiallelic. Based on complementation studies, involving UV sensitivity of fused cells, initially XP was c...
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 malignant melanomas in early childhood. Indeed, XP presents a unique model for analysing the effects of unr...
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 photophobia, early onset of freckling and neoplastic alterations on sun exposed areas of body. So far, eigh...
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 (XP), there are, in fact, at least three disorders, XP, trichothiodystrophy, (TTD) and Cockayne syndrome (CS), the etiopathogeneses of which are involved with the same biochemical pathways and, in a number of cases, with the same gene(s). In s...
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 XPA, no incision complex can form and no excision of damaged DNA damage occurs. A comparative analysi...
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 polymerase II (pol II). Five of these (XPB, p62, p52, p44 and p34) form a tight core subcomplex, while...
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 analyses have revealed that the broad substrate specificity of this repair system is based on the structure-...
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 groups based on the number of literature citations in which the specific acronym can be found in the t...
XPG: Its Products and Biological Roles
Orlando D. Schärer
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 function of XPG in the nucleotide excision repair, where it has a structural role in the assembly of...
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