Cover

Genome and Disease

Editor(s): Volff J.-N. (Würzburg) 
Table of Contents
Vol. 1, No. , 2006
Section title: Paper
Volff J-N (ed): Genome and Disease. Genome Dyn. Basel, Karger, 2006, vol 1, pp 35–52
(DOI:10.1159/000092499)

Nucleotide Excision Repair and Related Human Diseases

Bergoglio V. · Magnaldo T.
Laboratory of Genetic Instability and Cancer, CNRS, Institut Gustave Roussy, Villejuif, France

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 3/28/2006
Cover Date: 2006

Number of Print Pages: 18
Number of Figures: 0
Number of Tables: 0

ISBN: 978-3-8055-8029-8 (Print)
eISBN: 978-3-318-01290-3 (Online)

Abstract

Nucleotide excision repair (NER) of DNA-lesions is the most versatile DNA repair mechanism involved in genome maintenance, cell and organismal preservation. Deciphering the stepwise mechanism of NER has mostly relied on cells from rare patients presenting photosensitive, recessively inherited genetic disorders such as xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne (CS) syndromes. Cells from these patients share various extents of impaired capacity of repairing UV-induced DNA lesions (cyclobutane pyrimidine dimers, 6-4 pyrimidine-pyrimidone photo products) located either in transcribed DNA strands or in inactive DNA. We review here the essentials of NER actors and how impairment of their activity may lead to distinct and characteristic human disorders whose presentation may be limited to developmental trait (TTD; CS), or cumulate with cancer susceptibility toward genotoxic aggressions, most notably short wavelength ultraviolets.


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 3/28/2006
Cover Date: 2006

Number of Print Pages: 18
Number of Figures: 0
Number of Tables: 0

ISBN: 978-3-8055-8029-8 (Print)
eISBN: 978-3-318-01290-3 (Online)


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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