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Titolo:
DNA damage processing defects and disease
Autore:
Moses, RE;
Indirizzi:
Oregon Hlth Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA Oregon Hlth Sci Univ Portland OR USA 97201 Genet, Portland, OR 97201 USA
Titolo Testata:
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
, volume: 2, anno: 2001,
pagine: 41 - 68
SICI:
1527-8204(2001)2:<41:DDPDAD>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
NIJMEGEN BREAKAGE SYNDROME; FANCONI-ANEMIA CELLS; DOUBLE-STRAND BREAK; TRANSCRIPTION-COUPLED REPAIR; ROTHMUND-THOMSON-SYNDROME; SYNDROME GENE-PRODUCT; RNA-POLYMERASE-II; NONPOLYPOSIS COLORECTAL-CANCER; BLOOMS SYNDROME FIBROBLASTS; ATAXIA-TELANGIECTASIA GENE;
Keywords:
DNA repair; recombination; cancer; mutagenesis; genomic stability;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
191
Recensione:
Indirizzi per estratti:
Indirizzo: Moses, RE Oregon Hlth Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA Oregon Hlth Sci Univ Portland OR USA 97201 rtland, OR 97201 USA
Citazione:
R.E. Moses, "DNA damage processing defects and disease", ANN REV GEN, 2, 2001, pp. 41-68

Abstract

Inherited defects in DNA repair or the processing of DNA damage can lead to disease. Both autosomal recessive and autosomal dominant modes of inheritance are represented. The diseases as a group are characterized by genomic instability, with eventual appearance of cancer. The inherited defects frequently have a specific DNA damage sensitivity, with cells from affected individuals showing normal resistance to other genotoxic agents. The known defects are subtle alterations in transcription, replication, or recombination, with alternate pathways of processing permitting cellular viability. Distinct diseases may arise from different mutations in one gene; thus, clinical phenotypes may reflect the loss of different partial functions of a gene. The findings indicate that partial defects in transcription or recombination lead to genomic instability, cancer, and characteristic disease phenotypes.

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Documento generato il 08/07/20 alle ore 06:18:13