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Titolo:
The mouse ortholog of the human SMARCB1 gene encodes two splice forms
Autore:
Bruder, CEG; Dumanski, JP; Kedra, D;
Indirizzi:
Karolinska Hosp, Clin Genet Unit, Dept Mol Med, S-17176 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-17176 Med, S-17176 Stockholm, Sweden
Titolo Testata:
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
fascicolo: 3, volume: 257, anno: 1999,
pagine: 886 - 890
SICI:
0006-291X(19990421)257:3<886:TMOOTH>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
SWI-SNF COMPLEX; TRANSCRIPTIONAL ACTIVATORS; MENINGIOMA; CHROMOSOME-22; SCHWANNOMAS; HSNF5/INI1; DELETIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Kedra, D Karolinskackholm,Clin Genet Unit, Dept Mol Med, CMM Bldg L-800, S-17176 Sto Karolinska Hosp CMM Bldg L-800 Stockholm Sweden S-17176 7176 Sto
Citazione:
C.E.G. Bruder et al., "The mouse ortholog of the human SMARCB1 gene encodes two splice forms", BIOC BIOP R, 257(3), 1999, pp. 886-890

Abstract

The human SMARCB1 gene (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1, previously named the INI1/hSNF5 gene) is a tumor suppressor gene located on chromosome 22q11.2 and isinactivated in malignant rhabdoid tumors. By using an EST-based approach, we cloned two splice forms of the Smarcb1 gene in mouse and a longer spliceform of the human ortholog, Proteins corresponding to the longer (385 as) and the shorter (376 aa) forms are 100% conserved between human and mouse. Meningiomas and schwannomas are tumors frequently deleting various regions on chromosome 22, including the SMARCB1 locus. We therefore directly sequenced seven SMARCB1 exons (90% of the open reading frame) in search for mutations in 41 meningiomas and 23 schwannomas. No inactivating mutations were observed, which suggests that the SMARCB1 gene is not involved in the pathogenesis of these tumors. (C) 1999 Academic Press.

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Documento generato il 20/01/21 alle ore 03:06:32