Mutation analysis of gene PAX6 in human gliomas
Genet. mol. res. (Online)
; 6(4): 1019-1025, 2007. tab
Article
en En
| LILACS
| ID: lil-520048
Biblioteca responsable:
BR26.1
ABSTRACT
Gliomas are the most common tumors of the central nervous system. In spite of the marked advances in the characterization of the molecular pathogenesis of gliomas, these tumors remain incurable and, in most of the cases, resistant to treatments, due to their molecular heterogeneity. Gene PAX6, which encodes a transcription factor that plays an important role in the development of the central nervous system, was recently recognized as a tumor suppressor in gliomas. The objective of the present study was to analyze the mutational status of the coding and regulating regions of PAX6 in 94 gliomas 81 astrocytomas (11 grade I, 23 grade II, 8 grade III, and 39 grade IV glioblastomas), 5 oligodendrogliomas (3 grade II, and 2 grade III), and 8 ependymomas (5 grade II, and 3 grade III). Two regulating regions (SX250 and EIE) and the 11 coding regions (exons 4-13, plus exon 5a resulting from alternative splicing) of gene PAX6 were analyzed and no mutation was found. Therefore, we conclude that the tumor suppressor role of PAX6, reported in previous studies on gliomas, is not due to mutation in its coding and regulating regions, suggesting the involvement of epigenetic mechanisms in the silencing of PAX6 in these tumors.
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Proteínas Represoras
/
ADN de Neoplasias
/
Neoplasias del Sistema Nervioso Central
/
Proteínas de Homeodominio
/
Proteínas del Ojo
/
Glioma
/
Mutación
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
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Female
/
Humans
/
Male
Idioma:
En
Revista:
Genet. mol. res. (Online)
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2007
Tipo del documento:
Article
/
Project document
País de afiliación:
Brasil
/
España