Microsatellite instability and promoter methylation as possible causes of NF1 gene inactivation in neurofibromas.
Eur J Hum Genet
; 8(12): 939-45, 2000 Dec.
Article
en En
| MEDLINE
| ID: mdl-11175282
ABSTRACT
Neurofibromatosis type 1 (NF1) is a frequent hereditary disorder. One of the characteristic features of this disease is the development of neurofibromas. Since the NF1 gene is supposed to be a tumour suppressor gene, these neurofibromas should develop upon inactivation of both NF1 alleles. So far, mutation and deletion have been found to be involved in NF1 gene inactivation. However, these inactivating mechanisms explain the development of only a limited fraction of analysed neurofibromas. In this study, we investigated microsatellite instability (MSI) and promoter methylation as potential contributors to NF1 gene inactivation. As site-specific methylation in the NF1 promoter inhibits binding of transcription factors Sp1 and CREB, we studied the methylation status of their binding sites in particular. We analysed 20 neurofibromas and three neurofibrosarcomas, but did not find evidence for microsatellite instability or NF1 promoter methylation in any of the tumours. Thus, our data suggest that both microsatellite instability and promoter methylation are unlikely to be the major causes of NF1 gene inactivation in these tumours.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Represoras
/
Regiones Promotoras Genéticas
/
Repeticiones de Microsatélite
/
Metilación de ADN
/
Silenciador del Gen
/
Proteínas del Tejido Nervioso
/
Neurofibroma
Tipo de estudio:
Etiology_studies
Límite:
Humans
Idioma:
En
Revista:
Eur J Hum Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2000
Tipo del documento:
Article
País de afiliación:
Países Bajos