Photosensitive human syndromes
Open accessAbstract
Photosensitivity in humans can result from defects in repair of light-induced DNA lesions, from photoactivation of chemicals (including certain medications) with sunlight to produce toxic mediators, and by immune reactions to sunlight exposures. Deficiencies in DNA repair and the processing of damaged DNA during replication and transcription may result in mutations and genomic instability. We will review current understanding of photosensitivity to short wavelength ultraviolet light (UV) due to genetic defects in particular DNA repair pathways; deficiencies in some are characterized by an extremely high incidence of cancer in sun-exposed tissues, while in others no cancers have been reported.
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The temporal hierarchy of NER of UV-induced dipyrimidine photoproducts in mammalian cells is characterized by rapid recognition and excision of 6-4 PPs and preferential repair of CPDs in actively transcribed genes.
“The temporal hierarchy of NER of UV-induced dipyrimidine photoproducts in mammalian cells is characterized by not only rapid recognition and excision of 6–4 PPs (which are preferentially formed in open chromatin regions), but also preferential repair of CPDs in actively transcribed genes22–24.”
From Modulation of UVB-induced Carcinogenesis by Activation of Alternative DNA Repair Pathways (2018) · cites this paper as [24]
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References 61 · Cited by 27
Research works printed but not linked: 1
- [24]Imoto K Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration Journal of Investigative Dermatology 2007 127 S92 S92
- Authors
- Spivak, G., & Hanawalt, P. C.
- Affiliations
- Stanford University (US)
- Venue
- Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
- Publisher
- Elsevier BV
- Published
- 2015-06
- Volume
- 776
- Pages
- 24-30
- ISSN
- 0027-5107 (ISSN-L)
- 1386-1964
- PMC
- PMC4531261
- OpenAlex
- W2087702780
- Cited by
- 27
- References
- 61
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 2 · 2023: 1 · 2021: 3 · 2020: 2 · 2019: 1 · 2018: 5 · 2017: 2 · 2016: 5 · 2015: 2
- FWCI
- 0.28
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- Mutation research. Fundamental and molecular mechanisms of mutagenesis (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Environmental Health Sciences (ES018834)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Dermatology › Skin Protection and Aging
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Keywords
- photosensitivity, DNA repair deficiency, ultraviolet radiation, genetic syndromes, phototoxicity, genomic instability, cancer susceptibility, photomutagenesis
- MeSH terms
- DNA Repair, Humans, Mutation, Neoplasms, Radiation-Induced, Photosensitivity Disorders, Syndrome, Ultraviolet Rays, Genomic Instability, DNA Breaks
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