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Titolo:
Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression
Autore:
Soucek, T; Rosner, M; Miloloza, A; Kubista, M; Cheadle, JP; Sampson, JR; Hengstschlager, M;
Indirizzi:
Univ Vienna, A-1090 Vienna, Austria Univ Vienna Vienna Austria A-1090Univ Vienna, A-1090 Vienna, Austria Univ Wales Hosp, Inst Med Genet, Cardiff CF14 4XW, S Glam, Wales Univ Wales Hosp Cardiff S Glam Wales CF14 4XW iff CF14 4XW, S Glam, Wales
Titolo Testata:
ONCOGENE
fascicolo: 35, volume: 20, anno: 2001,
pagine: 4904 - 4909
SICI:
0950-9232(20010809)20:35<4904:TSCMOT>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
EKER RAT MODEL; CELL-CYCLE; RENAL-CARCINOMA; HAMARTIN; IDENTIFICATION; SUPPRESSION; GAP;
Keywords:
tuberous sclerosis; TSC2; tuberin; proliferation; p27;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Hengstschlager, M Univ Vienna, Wahringer Gurtel 18-20, A-1090 Vienna, Austria Univ Vienna Wahringer Gurtel 18-20 Vienna Austria A-1090
Citazione:
T. Soucek et al., "Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression", ONCOGENE, 20(35), 2001, pp. 4904-4909

Abstract

The autosomal dominant disease tuberous sclerosis (TSC) is caused by mutations in either TSC1 on chromosome 9q34, encoding hamartin, or TSC2 on chromosome 16p13.3, encoding tuberin. TSC is characterized by hamartomas that occur in many organs of affected patients and these have been considered to likely result from defects in proliferation control. Although the true biochemical functions of the two TSC proteins have not been clarified, a series of independent investigations demonstrated that modulated hamartin or tuberin expression cause deregulation of proliferation/cell cycle in human, rodent and Drosophila cells. In support of tuberin acting as a tumor suppressor, ectopic overexpression of TSC2 has been shown to decrease proliferation rates of mammalian cells. Furthermore, overexpression of TSC2 has been demonstrated to trigger upregulation of the cyclin-dependent kinase inhibitor p27. We report that three different naturally occurring and TSC causing mutations within the TSC2 gene elliminate neither the anti-proliferative capacity of tuberin nor tuberin's effects on p27 expression. For the first time these data provide strong evidence that deregulation of proliferation and/or upregulation of p27 are not likely to be the primary/only mechanisms of hamartoma development in TSC. These results demand reassessment of previous hypotheses of the pathogenesis of TSC.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 15:53:27