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Shining a Light on Xeroderma Pigmentosum
Open accessAbstract
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by sun sensitivity and UV radiation-induced skin and mucous membrane cancers. Initially described in 1874 by Moriz Kaposi in Vienna, nearly 100 years later, James Cleaver in San Francisco reported defective DNA repair in XP cells. This eventually provided the basis for a mechanistic link between sun exposure, DNA damage, somatic mutations, and skin cancer. XP cells were found to have defects in seven of the proteins of the nucleotide excision repair pathway and in DNA polymerase η. XP cells are hypersensitive to killing by UV radiation, and XP cancers have characteristic "UV signature" mutations. Clinical studies at the National Institutes of Health found a nearly 10,000-fold increase in skin cancer in XP patients under the age of 20 years, demonstrating the substantial importance of DNA repair in cancer prevention in the general population. Approximately 25% of XP patients have progressive neurological degeneration with progressive loss of neurons, probably from DNA damage induced by oxidative metabolism, which kills nondividing cells in the nervous system. Interestingly, patients with another disorder, trichothiodystrophy, have defects in some of the same genes as XP, but they have primary developmental abnormalities without an increase in skin cancer.
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In the citing paper
“Specifically, XP patients under the age of 20 years show a 10,000-fold increase in skin cancer, which demonstrates the substantial importance of DNA repair in cancer prevention in the general population [203][204][205].”
From Sunlight damage to cellular DNA: focus on oxidatively generated lesions (2017) · cites this paper as [205]
In the citing paper
“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† (2012) · cites this paper as [18]
In the citing paper
“In addition to high dermatological sensitivity to sunlight XP patients, especially those with an XPA deficiency, often suffer from neurological deficiencies and an early-aging phenotype 2,”
From Xeroderma Pigmentosa Group A (XPA), Nucleotide Excision Repair and Regulation by ATR in Response to Ultraviolet Irradiation (2017) · cites this paper as [2]
In the citing paper
“likely due to non-NER mechanisms as exogenous, genotoxin-induced bulky adducts would not be a concern.”
From Xeroderma Pigmentosa Group A (XPA), Nucleotide Excision Repair and Regulation by ATR in Response to Ultraviolet Irradiation (2017) · cites this paper as [2]
In the citing paper
“The importance of NER in resistance to UV-induced cancers is clearly demonstrated by observing the natural history of xeroderma pigmentosum (XP) patients, who through homozygous loss of one of the enzymes that carry out NER, are profoundly predisposed to melanoma and other UV-induced skin cancers”
From RETRACTED: PKA-Mediated Phosphorylation of ATR Promotes Recruitment of XPA to UV-Induced DNA Damage (2014) · cites this paper as DiGiovanna and Kraemer, 2012
In the citing paper
“Photolesions engage the nucleotide excision repair (NER) pathway, which corrects UV-induced DNA damage in a multistep process involving numerous repair factors including XPA, ERCC1, ERCC3 (XP-B), XPC, ERCC2 (XP-D), DDB2 (XP-E), ERCC4 (XP-F) and ERCC5 (XP-G)”
From RETRACTED: PKA-Mediated Phosphorylation of ATR Promotes Recruitment of XPA to UV-Induced DNA Damage (2014) · cites this paper as DiGiovanna and Kraemer, 2012
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Itoh, T., Yamaizumi, M., ICIHASHI, M., et al. (1996) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1996.tb07963.x · Cited by 16
XERODERMA PIGMENTOSUM IN A NEGRESS
KING, H. D. (1940) · Archives of Dermatology · doi:10.1001/archderm.1940.01490160030005 · Cited by 14
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Flagged first, then by citations
6 of the 98 references couldn’t be matched to a known paper.
Research works printed but not linked: 5
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- Grier, 1919, Report of two cases of xeroderma pigmentosum with malignancy of the eyeball successfully treated by roentgen ray, Am J Roentgenol, 6, 556
- Hebra, 1874, On diseases of the skin including exanthemata, volume III, New Sydenham Soc, 61, 252
- Kraemer, 1987, Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases, Arch Dermatol, 123, 241, 10.1001/archderm.1987.01660260111026 · DOI
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Cited by
Sorted by citations
D'Orazio, J., Jarrett, S., Amaro-Ortiz, A., & Scott, T. (2013) · International Journal of Molecular Sciences · doi:10.3390/ijms140612222 · Cited by 1,984
Understanding nucleotide excision repair and its roles in cancer and ageing
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Defective Mitophagy in XPA via PARP-1 Hyperactivation and NAD+/SIRT1 Reduction
Fang, E. F., Scheibye-Knudsen, M., Brace, L. E., Kassahun, H., SenGupta, T., Nilsen, H., Mitchell, J. R., Croteau, D. L., & Bohr, V. A. (2014) · Cell · doi:10.1016/j.cell.2014.03.026 · Cited by 711
DNA repair mechanisms in dividing and non-dividing cells
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Metadata
- Authors
- DiGiovanna, J. J., & Kraemer, K. H.
- Affiliations
- National Cancer Institute (US)
- Corresponding author
- Kraemer, Kenneth H.
- Venue
- Journal of Investigative Dermatology
- Publisher
- Elsevier BV
- Published
- 2012-03
- Volume
- 132
- Issue
- 3
- Pages
- 785-796
- ISSN
- 0022-202X (ISSN-L)
- PMC
- PMC3279615
- OpenAlex
- W2082139407
- Cited by
- 547
- References
- 98
- Citations by year
- 2026: 22 · 2025: 21 · 2024: 31 · 2023: 32 · 2022: 38 · 2021: 42 · 2020: 36 · 2019: 46 · 2018: 39 · 2017: 51 · 2016: 39 · 2015: 40 · 2014: 52 · 2013: 40 · 2012: 16
- FWCI
- 4.32
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Journal of Investigative Dermatology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute (ZIABC004517)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- xeroderma pigmentosum, DNA repair, nucleotide excision repair, UV-induced skin cancer, sun sensitivity, neurodegeneration, trichothiodystrophy, cancer prevention
- MeSH terms
- DNA Repair, Humans, Skin Neoplasms, Sunlight, Xeroderma Pigmentosum
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.
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