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Titolo:
Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma
Autore:
Kino, T; Takeshima, H; Nakao, M; Nishi, T; Yamamoto, K; Kimura, T; Saito, Y; Kochi, M; Kuratsu, J; Saya, H; Ushio, Y;
Indirizzi:
Kagoshima Univ, Fac Med, Dept Neurosurg, Kagoshima 8908520, Japan Kagoshima Univ Kagoshima Japan 8908520 urosurg, Kagoshima 8908520, Japan Kumamoto Univ, Sch Med, Dept Neurosurg, Kumamoto 8608556, Japan Kumamoto Univ Kumamoto Japan 8608556 Neurosurg, Kumamoto 8608556, Japan
Titolo Testata:
GENES TO CELLS
fascicolo: 5, volume: 6, anno: 2001,
pagine: 441 - 454
SICI:
1356-9597(200105)6:5<441:IOTCRI>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUMOR-SUPPRESSOR GENE; NEUROFIBROMATOSIS TYPE-2; CPG METHYLATION; VESTIBULAR SCHWANNOMAS; BINDING-PROTEIN; DNA METHYLATION; SEQUENCE; PRODUCT; CLONING; SITE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Takeshima, H Kagoshima Univ, Fac Med, Dept Neurosurg, Kagoshima 8908520, Japan Kagoshima Univ Kagoshima Japan 8908520 shima 8908520, Japan
Citazione:
T. Kino et al., "Identification of the cis-acting region in the NF2 gene promoter as a potential target for mutation and methylation-dependent silencing in schwannoma", GENES CELLS, 6(5), 2001, pp. 441-454

Abstract

Background: Although mutational inactivation and allelic loss in the NF2 gene appear to be causal events in the majority of vestibular schwannomas, involvement of another potentially important mechanism, transcriptional inactivation, has not been investigated. Results: We cloned and functionally characterized the 5'-flanking region of the human NF2 gene and identified the molecular mechanisms that regulate NF2 expression. Luciferase assay and site-directed mutagenesis demonstratedthat a 70-base pair (bp) region (-591 to -522 bp from the translation start site) was essential for the basic expression of the NF2 gene. A gel mobility shift assay indicated recognition by nuclear protein of the unusually long (approximate to 66 bp) sequences in this region. Recognition was inhibited by either mutation of the binding core sequence or by methylation of three CpG sites. Point mutations at these CpG sites significantly decreased promoter activity, suggesting the importance of these sites. In 14 of 23 vestibular schwannomas, these three CpG sites were methylated in a site-specific manner and the methylation status was consistent with the expression of NF2 mRNA. Conclusions: Suppressed expression by aberrant methylation or mutation of the promoter elements could be an alternative mechanism for inactivation ofthe NF2 gene.

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Documento generato il 29/03/20 alle ore 00:44:01