Mutation analysis of gene PAX6 in human gliomas
Genet. mol. res. (Online)
;
6(4): 1019-1025, 2007. tab
Article
Dans Anglais
| LILACS
| ID: lil-520048
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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Protéines de répression
/
ADN tumoral
/
Tumeurs du système nerveux central
/
Protéines à homéodomaine
/
Protéines de l'oeil
/
Gliome
/
Mutation
Limites du sujet:
Adolescent
/
Adulte
/
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Genet. mol. res. (Online)
Thème du journal:
Biologie moléculaire
/
Génétique
Année:
2007
Type:
Article
/
descriptif de projet
Pays d'affiliation:
Brésil
/
Espagne
Institution/Pays d'affiliation:
Fundação Pio XII/BR
/
Hospital Universitario La Paz/ES
/
Universidade Federal do Pará/BR
/
Universidade Federal do Piauí/BR
/
Universidade de São Paulo/BR
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