Cancer in xeroderma pigmentosum and related disorders of DNA repair
@article{Cleaver2005CancerIX, title={Cancer in xeroderma pigmentosum and related disorders of DNA repair}, author={James E. Cleaver}, journal={Nature Reviews Cancer}, year={2005}, volume={5}, pages={564-573} }
Nucleotide-excision repair diseases exhibit cancer, complex developmental disorders and neurodegeneration. Cancer is the hallmark of xeroderma pigmentosum (XP), and neurodegeneration and developmental disorders are the hallmarks of Cockayne syndrome and trichothiodystrophy. A distinguishing feature is that the DNA-repair or DNA-replication deficiencies of XP involve most of the genome, whereas the defects in CS are confined to actively transcribed genes. Many of the proteins involved in repair…
431 Citations
Historical aspects of xeroderma pigmentosum and nucleotide excision repair.
- BiologyAdvances in experimental medicine and biology
- 2008
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 and established DNA repair as a central factor for maintaining genomic stability and preventing cancer, neurodegenerative disease and aging.
Nucleotide excision repair diseases: molecular biology underlying the clinical heterogeneity
- Medicine, Biology
- 2013
The effects of NER factors in oxidative and energy metabolism as a potential explanation for the clinical heterogeneity observed among different NER patients are discussed.
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity
- Biology, MedicineNature Reviews Genetics
- 2009
The mapping of mutations in recently solved protein structures has begun to clarify the links between the molecular defects and phenotypes, but the identification of additional sources of clinical variability is still necessary.
Xeroderma Pigmentosum C: A Valuable Tool to Decipher the Signaling Pathways in Skin Cancers
- BiologyOxidative medicine and cellular longevity
- 2021
The characterization of the proteomic signature of an XPC mutant is essential to identify mediators that could be targeted to prevent cancer development in XPC patients, and signaling pathways disrupted in skin cancer are focused on.
Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging
- BiologyMechanisms of Ageing and Development
- 2008
Xeroderma pigmentosum and skin cancer.
- Biology, MedicineAdvances in experimental medicine and biology
- 2008
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, demonstrating the major role of the UV component of sunlight in skin cancer development.
Gene Expression Profiling of Xeroderma Pigmentosum
- BiologyHereditary cancer in clinical practice
- 2006
Gen expression analysis has revealed distinct gene expression profiles for the XP complementation groups and the first step towards understanding the neurological symptoms of XP.
Regulation of global genome nucleotide excision repair by SIRT1 through xeroderma pigmentosum C
- BiologyProceedings of the National Academy of Sciences
- 2010
It is shown that inhibition of the deacetylase and longevity factor SIRT1 impairs global genome NER through suppressing the transcription of XPC in a SIRT2 deacetyase-dependent manner, and levels of SIRT 1 are significantly reduced in human skin tumors from Caucasian patients, a population at highest risk of skin cancer.
Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure
- Biology, MedicineInternational journal of molecular sciences
- 2015
The biological pathways with altered gene expression after UV-light exposure were distinct for each subtype and contained oncogenic related functions such as perturbation of cell cycle, apoptosis, proliferation and differentiation.
References
SHOWING 1-10 OF 211 REFERENCES
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy
- Biology, MedicineNature Genetics
- 1994
This work has identified causative mutations in XPD in four TTD patients and suggested relationships between different domains in the gene and its roles in excision repair and transcription.
Recapitulation of the cellular xeroderma pigmentosum-variant phenotypes using short interfering RNA for DNA polymerase H.
- BiologyCancer research
- 2003
The lesion-specific DNA polymerase POLH gene is mutated in xeroderma pigmentosum variant (XP-V) patients who exhibit an increased skin cancer incidence from UV exposure. Normal cells in which POLH…
hRAD30 mutations in the variant form of xeroderma pigmentosum.
- BiologyScience
- 1999
It is shown that XP variant (XP-V) cell lines harbor nonsense or frameshift mutations in hRAD30, the human counterpart of yeast RAD30, and this suggests that error-free replication of UV lesions by hRad30 plays an important role in minimizing the incidence of sunlight-induced skin cancers.
The XPV (xeroderma pigmentosum variant) gene encodes human DNA polymerase η
- BiologyNature
- 1999
Recombinant human DNA polymerase η corrects the inability of XP-V cell extracts to carry out DNA replication by bypassing thymine dimers on damaged DNA, indicating that DNA polymerases η could be the XPV gene product.
Defective Repair Replication of DNA in Xeroderma Pigmentosum
- Biology, MedicineNature
- 1968
Patients with xeroderma pigmentosum develop fatal skin cancers when exposed to sunlight, and so the failure of DNA repair in the skin must be related to carcinogenesis.
Expression of the p48 xeroderma pigmentosum gene is p53-dependent and is involved in global genomic repair.
- BiologyProceedings of the National Academy of Sciences of the United States of America
- 1999
It is shown that p48 mRNA levels strongly depend on basal p53 expression and increase further after DNA damage in a p53-dependent manner, and this results identify p48 as the link between p53 and the nucleotide excision repair apparatus.
Xeroderma pigmentosum p48 gene enhances global genomic repair and suppresses UV-induced mutagenesis.
- BiologyMolecular cell
- 2000
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.
- BiologyMolecular cell
- 1998
DNA repair defect in xeroderma pigmentosum group C and complementing factor from HeLa cells.
- BiologyThe Journal of biological chemistry
- 1994
A predominant form of the inherited syndrome xeroderma pigmentosum is genetic complementation group C (XP-C). XP-C cells are defective in DNA nucleotide excision repair in the bulk of the genome but…
A summary of mutations in the UV‐sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy
- BiologyHuman mutation
- 1999
The summary presented here represents currently known mutations that can be used as the basis for future studies of the structure, function, and biochemical properties of the proteins involved in this set of complex disorders, and may allow determination of the critical sites for mutations leading to different clinical manifestations.