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 excision repair was in its infancy. The linkage between DNA damage, DNA repair and human cancer stimulated...

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...

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...

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...

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 disease with defective nucleotide excision repair (NER). It is characterized by easily...

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...

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...

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 predisposition to development of skin cancers. NER is a major mechanism of DNA repair in cells for...

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 severe...

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...

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...

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)....

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,...

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‑variant)...

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,...

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...

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. Hebra and Kaposi reported the disease initially in 1874. It generally shows early onset of symptoms,...