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Titolo:
Abnormal regulation of DDB2 gene expression in xeroderma pigmentosum groupE strains
Autore:
Itoh, T; Nichols, A; Linn, S;
Indirizzi:
Univ Calif Berkeley, Div Biochem & Mol Biol, Berkeley, CA 94720 USA Univ Calif Berkeley Berkeley CA USA 94720 ol Biol, Berkeley, CA 94720 USA
Titolo Testata:
ONCOGENE
fascicolo: 48, volume: 20, anno: 2001,
pagine: 7041 - 7050
SICI:
0950-9232(20011025)20:48<7041:ARODGE>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
DNA-BINDING PROTEIN; COMPLEMENTATION GROUP-E; GLOBAL GENOMIC REPAIR; ATAXIA-TELANGIECTASIA; DAMAGED DNA; EXCISION-REPAIR; UV-IRRADIATION; CELLS; P48; PHENOTYPE;
Keywords:
DDB2; xeroderma pigmentosum; damage-specific DNA binding protein unscheduled DNA synthesis; p48; skin carcinogenesis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Itoh, T Univ Calif Berkeley, Div Biochem & Mol Biol, 229 Stanley Hall, Berkeley, CA 94720 USA Univ Calif Berkeley 229 Stanley Hall Berkeley CA USA 94720 720 USA
Citazione:
T. Itoh et al., "Abnormal regulation of DDB2 gene expression in xeroderma pigmentosum groupE strains", ONCOGENE, 20(48), 2001, pp. 7041-7050

Abstract

A damage-specific DNA binding protein (DDB) activity is absent from a subset (DDB-) of cells from individuals initially classified as group E of xeroderma pigmentosum (XP), a hereditary, photosensitive disease with a high incidence of skin malignancies. In these cases, mutations have been identified in the DDB2 gene (DDB2(-)) that codes for the small subunit, p48, of the DDB heterodimer. In four DDB2(-) strains, neither p48 nor DDB activity wereobserved before or after UV-irradiation, despite an unusually strong up-regulation of DDB2 mRNA levels after UV-irradiation. In a fifth strain, XP82TO, p48 was detectable and both DDB2 mRNA and p48 levels were more up-regulated after UV-irradiation than in normal primary cells. Moreover, DDB activity also became apparent after irradiation. XP82TO showed very mild clinicalmanifestations compared with the other DDB- patients. These results, coupled with our findings that most, if not all DDB+ cells classified as XP-E were misclassified, suggests a direct correlation between DDB2 levels and theXP-E phenotype.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/10/20 alle ore 23:58:43