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Titolo:
A melanoma-associated germline mutation in exon 1 beta inactivates p14ARF
Autore:
Rizos, H; Puig, S; Badenas, C; Malvehy, J; Darmanian, AP; Jimenez, L; Mila, M; Kefford, RF;
Indirizzi:
Univ Sydney, Westmead Millennium Inst, Westmead Hosp, Westmead Inst Canc Res, Westmead, NSW 2145, Australia Univ Sydney Westmead NSW Australia 2145 es, Westmead, NSW 2145, Australia Univ Barcelona, IDIBAPS, Hosp Clin, E-08036 Barcelona, Spain Univ Barcelona Barcelona Spain E-08036 sp Clin, E-08036 Barcelona, Spain
Titolo Testata:
ONCOGENE
fascicolo: 39, volume: 20, anno: 2001,
pagine: 5543 - 5547
SICI:
0950-9232(20010906)20:39<5543:AMGMIE>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
CUTANEOUS MALIGNANT-MELANOMA; NUCLEOLAR LOCALIZATION; TUMOR SUPPRESSION; CDKN2A MUTATIONS; P53; MDM2; P19(ARF); GENE; LOCUS; P14(ARF);
Keywords:
p14ARF; p16(INK4a); melanoma; germline mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Rizos, H Univ Sydney, Westmead Millennium Inst, Westmead Hosp, Westmead Inst Canc Res, Westmead, NSW 2145, Australia Univ Sydney Westmead NSW Australia 2145 ead, NSW 2145, Australia
Citazione:
H. Rizos et al., "A melanoma-associated germline mutation in exon 1 beta inactivates p14ARF", ONCOGENE, 20(39), 2001, pp. 5543-5547

Abstract

The INK4a/ARF locus encodes the cyclin dependent kinase inhibitor, p16(INK4a) and the p53 activator, p14ARF. These two proteins have an independent first exon (exon 1 alpha and exon 1 beta, respectively) but share exons 2 and 3 and are translated in different reading frames. Germline mutations in this locus are associated with melanoma susceptibility in 20-40% of multiplecase melanoma families. Although most of these mutations specifically inactivate p16(INK4a), more than 40% of the INK4a/ARF alterations located in exon 2, affect both p16(INK4a) and p14ARF. We now report a 16 base pair exon 1 beta germline insertion specifically altering p14ARF, but not p16(INK4a),in an individual with multiple primary melanomas. This mutant p14ARF, 60ins16, was restricted to the cytoplasm, did not stabilize p53 and was unable to arrest the growth of a p53 expressing melanoma cell line. This is the first example of an exon 1 beta mutation that inactivates p14ARF, and thus implicates a role for this tumour suppressor in melanoma predisposition.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 09:53:21