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Cited by 428DNA Repair MechanismsGenomics and Rare DiseasesGenetic and rare skin diseases.

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Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity

Cleaver, James E., Lam, Ernest T., Revet, Ingrid·2009·Nature Reviews Genetics
DOI 10.1038/nrg2663
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Abstract

Mutations in genes on the nucleotide excision repair pathway are associated with diseases, such as xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, that involve skin cancer and developmental and neurological symptoms. These mutations cause the defective repair of damaged DNA and increased transcription arrest but, except for skin cancer, the links between repair and disease have not been obvious. Widely different clinical syndromes seem to result from mutations in the same gene, even when the mutations result in complete loss of function. The mapping of mutations in recently solved protein structures has begun to clarify the links between the molecular defects and phenotypes, but the identification of additional sources of clinical variability is still necessary.

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Metadata

Authors
Cleaver, J. E., Lam, E. T., & Revet, I.
Affiliations
University of California, San Francisco (US)
Corresponding author
Cleaver, James E.
ORCID
Cleaver, James E.
Venue
Nature Reviews Genetics
Publisher
Springer Science and Business Media LLC
Published
2009-10-07
Volume
10
Issue
11
Pages
756-768
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
DOI
10.1038/nrg2663
OpenAlex
W2026776398
Cited by
428
References
0
Citations by year
2026: 7 · 2025: 16 · 2024: 9 · 2023: 14 · 2022: 23 · 2021: 20 · 2020: 30 · 2019: 24 · 2018: 24 · 2017: 29 · 2016: 35 · 2015: 30 · 2014: 43 · 2013: 38 · 2012: 33
FWCI
2.12
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Nature Reviews Genetics (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • Iris O'Brien Foundation
  • National Institute of Neurological Disorders and Stroke (R01NS052781)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
Keywords
nucleotide excision repair, genetic heterogeneity, xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, transcription arrest, DNA repair deficiency, skin cancer predisposition, neurological symptoms, developmental abnormalities, loss-of-function mutations, protein structure, genotype-phenotype correlation
MeSH terms
Animals, Cockayne Syndrome, DNA Repair, Humans, Genetic Variation, Xeroderma Pigmentosum, Trichothiodystrophy Syndromes

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