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PMID: 19809470 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

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

Nature reviews. Genetics ·Vol. 10 ·No. 11 ·2009-11-00 ·Pages 756-68

Cleaver JE, Lam ET, Revet I

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.

MeSH Terms
Animals Cockayne Syndrome/genetics DNA Repair/genetics Genetic Variation/genetics Humans Trichothiodystrophy Syndromes/genetics Xeroderma Pigmentosum/genetics
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Cleaver James E
Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California 94143-0981, USA. [email protected]
Lam Ernest T
Revet Ingrid
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Article Info
Journal
Nature reviews. Genetics
Abbr.
Nat Rev Genet
ISSN
1471-0064
DOI
10.1038/nrg2663
Email
[email protected]
Published
2009-11-00
Epub
2009-00-07
Pages
756-68
Language
English
Region
England
NLM ID
100962779
Subset
IM
Grants
NINDS NIH HHS · 1R01NS052781 · United States
External Links
PubMed source DOI: 10.1038/nrg2663 View journal details
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