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Xeroderma Pigmentosum and the DNA Damage Response to Ultraviolet Light

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The Molecular Basis of Human Cancer

Abstract

The DNA damage response restores DNA integrity and protects against genomic instability that can lead to cancer. The human disease xeroderma pigmentosum (XP) is a prime example of disorders affecting several stages of the damage response: nucleotide excision repair (NER), transcription, and DNA replication. NER repairs damage in the form of large modifications to nucleotides such as pyrimidine dimers from UV light, DNA adducts from carcinogenic chemicals, and some oxidative products. NER replaces the damage with a 27–29 nucleotide patch by a combination of damage recognition, verification, DNA unwinding, 3′ and 5′ cleavage, and DNA replication. Two main pathways can be distinguished: (1) global repair in which initial damage recognition occurs through dedicated proteins XPC/HR23B and XPE (DDB1/DDB2), and (2) transcription-coupled repair (TCR) in which damage recognition occurs as a result of RNA pol II arrest. Two proteins dedicated to TCR, CSA and CSB, are required for RNA pol II ubiquitination and are mutated in the sun-sensitive neurodegenerative disease Cockayne syndrome (CS). Overlap of NER with repair of oxidative damage may be responsible for the neural degeneration in CS and some XP groups. DNA damage blocks the replicative polymerases alpha, delta, and epsilon and is replicated by damage-specific polymerases, mainly Pol eta and Pol iota of the class Y low fidelity polymerases. NER is vitally important for protection against solar-induced damage that can lead to immunosuppression and skin cancer, including melanoma. Polymorphisms in NER genes have been associated with a range of other human cancers.

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Acknowledgements

We are grateful to the Luke O’Brien Foundation and the XP Society whose continued support and encouragement have been instrumental in furthering our work on XP and Cockayne Syndrome. The work described here was supported in part by grants from the National Institutes of Neurological Disorders and Stroke grant 1R01NS052781 (JEC), P01 AR050440-01 (PI: E. Epstein). This chapter draws upon and updates several previous reviews [84, 235, 297].

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  1. Auerback Melanoma Laboratory, Departments of Dermatology and Pharmaceutical Chemistry, UCSF Cancer Center, University of California, Room N431, Box 0808, San Francisco, CA, 94143-0808, USA

    James E. Cleaver Ph.D.

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  1. James E. Cleaver Ph.D.
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Correspondence to James E. Cleaver Ph.D. .

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  1. Department of Pathology and Laboratory Medicine, Curriculum in Toxicology, UNC Program in Translational Medicine, UNC Lineberger Comprehensive Center, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA

    William B. Coleman

  2. Laboratory for Clinical Genomics and Advanced Technology (CGAT), Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Norris Cotton Cancer Center, Geisel School of Medicine at Dartmouth, Lebanon, Hanover, New Hampshire, USA

    Gregory J. Tsongalis

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Cleaver, J.E. (2017). Xeroderma Pigmentosum and the DNA Damage Response to Ultraviolet Light. In: Coleman, W., Tsongalis, G. (eds) The Molecular Basis of Human Cancer. Humana Press, New York, NY. https://doi.org/10.1007/978-1-59745-458-2_24

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