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Titolo:
Truncated BRCA2 is cytoplasmic: Implications for cancer-linked mutations
Autore:
Spain, BH; Larson, CJ; Shihabuddin, LS; Gage, FH; Verma, IM;
Indirizzi:
Salk Inst Biol Studies, Genet Lab, La Jolla, CA 92037 USA Salk Inst Biol Studies La Jolla CA USA 92037 Lab, La Jolla, CA 92037 USA
Titolo Testata:
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
fascicolo: 24, volume: 96, anno: 1999,
pagine: 13920 - 13925
SICI:
0027-8424(19991123)96:24<13920:TBICIF>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUSCEPTIBILITY GENE BRCA2; GERM-LINE MUTATIONS; BREAST-CANCER; SUBCELLULAR-LOCALIZATION; NUCLEAR LOCATION; MOLECULAR-CLONING; MAMMALIAN-CELLS; PROTEIN; FAMILIES; RAD51;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
49
Recensione:
Indirizzi per estratti:
Indirizzo: Verma, IM Salk Inst Biol Studies, Genet Lab, 10010 N Torrey Pines Rd, La Jolla, CA 92037 USA Salk Inst Biol Studies 10010 N Torrey Pines Rd La Jolla CA USA 92037
Citazione:
B.H. Spain et al., "Truncated BRCA2 is cytoplasmic: Implications for cancer-linked mutations", P NAS US, 96(24), 1999, pp. 13920-13925

Abstract

BRCA2 mutations predispose carriers mainly to breast cancer. The vast majority of BRCA2 mutations are predicted to result in a truncated protein product The smallest known cancer-associated deletion removes from the C terminus only 224 of the 3,418 residues constituting BRCA2, suggesting that theseterminal amino acids are crucial for BRCA2 function. A series of green fluorescent protein (GFP)-tagged BRCA2 deletion mutants revealed that nuclear localization depends on two nuclear localization signals that reside withinthe final 156 residues of BRCA2. Consistent with this observation, an endogenous truncated BRCA2 mutant (6174delT) was found to be cytoplasmic. Together, these studies provide a simple explanation for why the vast majority of BRCA2 mutants are nonfunctional: they do not translocate into the nucleus.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 09:09:07