Cited by 13DNA Repair MechanismsGenetic factors in colorectal cancerHistory of Science and Medicine

Historical Aspects of Xeroderma Pigmentosum and Nucleotide Excision Repair

Cleaver, James E.·2008·Advances in Experimental Medicine and Biology

Abstract

The discovery that xeroderma pigmentosum was a sun-sensitive hereditary human disease that was deficient in DNA repair was made when research into the fundamental mechanisms of nucleotide excision repair was in its infancy. The linkage between DNA damage, DNA repair and human cancer stimulated an enormous subsequent growth of the field of DNA repair and the identification of other repair deficient diseases and other repair pathways. This growth has established DNA repair as a central factor for maintaining genomic stability and preventing cancer, neurodegenerative disease and aging. The study of DNA repair impacts many other areas including human genetics, signal transduction, protein structure, DNA-protein interactions, DNA replication and recombination, transcription, telomere maintenance, development, differentiation, ecology and evolution.

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Crossref · 10.1007/978-0-387-09599-8_1

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  • Most xeroderma pigmentosum complementation groups A-G have a high incidence of skin tumors and deficiencies in nucleotide excision repair.

    “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).”

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Authors
Cleaver, J. E.
Affiliations
University of California, San Francisco (US)
Corresponding author
Cleaver, James E.
Venue
Advances in Experimental Medicine and Biology
Published
2008-11-29
Volume
637
Pages
1-9
ISSN
0065-2598 (ISSN-L)
OpenAlex
W78950686
Cited by
13
References
105
Citations by year
2022: 1 · 2021: 1 · 2019: 1 · 2018: 2 · 2016: 1 · 2014: 3 · 2012: 1
FWCI
1.29
Type
book chapter
Language
en
Open access
closed
Locations
  • Advances in experimental medicine and biology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
  • Social Sciences › Arts and Humanities › History and Philosophy of Science › History of Science and Medicine
Keywords
xeroderma pigmentosum, nucleotide excision repair, DNA repair, DNA damage, genetic disorders, sun sensitivity, genome stability, cancer prevention, DNA repair deficiency
MeSH terms
Animals, DNA Damage, DNA Repair, Humans, Xeroderma Pigmentosum, History, 19th Century, History, 20th Century

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