Historical Aspects of Xeroderma Pigmentosum and Nucleotide Excision Repair
Abstract
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 an enormous subsequent growth of the field of DNA repair and the identification of other repair deficient diseases and other repair pathways. This growth has established DNA repair as a central factor for maintaining genomic stability and preventing cancer, neurodegenerative disease and aging. The study of DNA repair impacts many other areas including human genetics, signal transduction, protein structure, DNA-protein interactions, DNA replication and recombination, transcription, telomere maintenance, development, differentiation, ecology and evolution.
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Most xeroderma pigmentosum complementation groups A-G have a high incidence of skin tumors and deficiencies in nucleotide excision repair.
“Another indirect evidence for the implication of photoinduced damage to DNA in carcinogenicity is provided by the high incidence of skin tumors in most of the complementation groups A-G of xeroderma pigmentosum patients (17,18) who suffer from deficiencies in nucleotide excision repair (19).”
From Photoinduced Damage to Cellular DNA: Direct and Photosensitized Reactions<sup>†</sup> (2012) · cites this paper as [19]
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Formation of UV-induced DNA damage contributing to skin cancer development
Cadet, J., & Douki, T. (2018) · Photochemical & Photobiological Sciences · doi:10.1039/c7pp00395a · Cited by 435 · see citing works
Photoinduced Damage to Cellular DNA: Direct and Photosensitized Reactions<sup>†</sup>
Cadet, J., Mouret, S., Ravanat, J., & Douki, T. (2012) · Photochemistry and Photobiology · doi:10.1111/j.1751-1097.2012.01200.x · Cited by 300 · see citing works
DNA repair mechanisms protect our genome from carcinogenesis
Moraes, M. C. S. (2012) · Frontiers in Bioscience · doi:10.2741/3992 · Cited by 64 · see citing works
Brown, K. L., Roginskaya, M., Zou, Y., Altamirano, A. M., Basu, A. K., & Stone, M. P. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp844 · Cited by 43 · see citing works
[Ultraviolet A-induced DNA damage: role in skin cancer].
Béani, J. (2014) · PubMed · Cited by 38 · see citing works
Munford, V., Castro, L. P., Souto, R., Lerner, L. K., Vilar, J. B., Quayle, C., Asif, H., Schuch, A. P., de Souza, T. A., Ienne, S., et al. (2016) · British Journal of Dermatology · doi:10.1111/bjd.15084 · Cited by 25 · see citing works
Ultraviolets A et dommages de l’ADN : leur place dans la cancérogenèse cutanée
Béani, J. (2014) · Bulletin de l Académie Nationale de Médecine · doi:10.1016/s0001-4079(19)31342-1 · Cited by 45 · see citing works
Análise da natureza genotípica de pacientes Xeroderma pigmentosum brasileiros.
Soltys, D. T. (2010) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.42.2010.tde-05082010-114429 · Cited by 13 · see citing works
Efeitos da luz UVA em células de pacientes com Xeroderma Pigmentosum Variante
Moreno, N. C. (2018) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/t.41.2018.tde-22012018-162542 · Cited by 13 · see citing works
Carcinogen–DNA Adduct Formation and DNA Repair
Weston, A., & Poirier, M. C. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-386454-3.00593-5 · Cited by 5 · see citing works
Douki, T. (2021) · Journal of Photochemistry and Photobiology B Biology · doi:10.1016/j.jphotobiol.2021.112169 · Cited by 3 · see citing works
Rayonnement solaire : aspects cliniques
Béani, J.-C. (2022) · Annales de Dermatologie et de Vénéréologie - FMC · doi:10.1016/j.fander.2022.01.003 · Cited by 1 · see citing works
Radiazione solare: aspetti clinici
Béani, J.-C. (2019) · EMC - Cosmetologia Medica e Medicina degli Inestetismi Cutanei · doi:10.1016/s1776-0313(20)43314-3
- Authors
- Cleaver, J. E.
- Affiliations
- University of California, San Francisco (US)
- Corresponding author
- Cleaver, James E.
- ORCID
- Cleaver, James E.
- Venue
- Advances in Experimental Medicine and Biology
- Publisher
- Springer New York
- Published
- 2008-11-29
- Volume
- 637
- Pages
- 1-9
- ISSN
- 0065-2598 (ISSN-L)
- OpenAlex
- W78950686
- Cited by
- 13
- References
- 105
- Citations by year
- 2022: 1 · 2021: 1 · 2019: 1 · 2018: 2 · 2016: 1 · 2014: 3 · 2012: 1
- FWCI
- 1.29
- Type
- book chapter
- Language
- en
- Open access
- closed
- Locations
- Advances in experimental medicine and biology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Social Sciences › Arts and Humanities › History and Philosophy of Science › History of Science and Medicine
- Keywords
- xeroderma pigmentosum, nucleotide excision repair, DNA repair, DNA damage, genetic disorders, sun sensitivity, genome stability, cancer prevention, DNA repair deficiency
- MeSH terms
- Animals, DNA Damage, DNA Repair, Humans, Xeroderma Pigmentosum, History, 19th Century, History, 20th Century
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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