Journal of Molecular Histology

, Volume 37, Issue 5–7, pp 225–238

Nucleotide excision repair and cancer

Original Paper

DOI: 10.1007/s10735-006-9041-x

Cite this article as:
Leibeling, D., Laspe, P. & Emmert, S. J Mol Hist (2006) 37: 225. doi:10.1007/s10735-006-9041-x

Abstract

Nucleotide excision repair (NER) is the most versatile and best studied DNA repair system in humans. NER can repair a variety of bulky DNA damages including UV-light induced DNA photoproducts. NER consists of a multistep process in which the DNA lesion is recognized and demarcated by DNA unwinding. Then, a ~28 bp DNA damage containing oligonucleotide is excised followed by gap filling using the undamaged DNA strand as a template. The consequences of defective NER are demonstrated by three rare autosomal-rezessive NER-defective syndromes: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). XP patients show severe sun sensitivity, freckling in sun exposed skin, and develop skin cancers already during childhood. CS patients exhibit sun sensitivity, severe neurologic abnormalities, and cachectic dwarfism. Clinical symptoms of TTD patients include sun sensitivity, freckling in sun exposed skin areas, and brittle sulfur-deficient hair. In contrast to XP patients, CS and TTD patients are not skin cancer prone. Studying these syndromes can increase the knowledge of skin cancer development including cutaneous melanoma as well as basal and squamous cell carcinoma in general that may lead to new preventional and therapeutic anticancer strategies in the normal population.

Keywords

DNA repair Nucleotide excision repair Xeroderma pigmentosum Cockayne syndrome Trichothiodystrophy COFS syndrome Skin cancer Topical therapy with DNA repair enzymes 

Copyright information

© Springer Science+Business Media B.V. 2006

Authors and Affiliations

  1. 1.Department of Dermatology and VenerologyGeorg-August-University GoettingenGoettingenGermany

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