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CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.

Gonzalez-Gomez P, Bello MJ, Alonso ME, Arjona D, Lomas J, de Campos JM, Isla A, Rey JA - Br. J. Cancer (2003)

Bottom Line: Methylation of the RB1 CpG island was detected in 26 samples corresponding to nine glioblastomas, three anaplastic astrocytomas, one mixed oligo-astrocytoma, one ependymoma, two medulloblastomas, two primary central nervous system lymphomas, two neurofibrosarcomas, and six brain metastasis from solid tumours.No inactivating mutations were found within the RB1 promoter region, whereas one glioblastoma and one oligodendroglioma displayed similar sequence variations consisting of 12 and 8 base pair deletions at intron 21.These results suggest that RB1 CpG island hypermethylation is a common epigenetic event that is associated with the development of malignant nervous system tumours.

View Article: PubMed Central - PubMed

Affiliation: Departmento de C. Experimental, Laboratorio de Oncogenetica Molecular, Hospital Universitario La Paz, Madrid, Spain.

ABSTRACT
A series of 136 nervous system tumours were studied to determine the methylation status of the CpG island contained within the promoter region of the RB1 gene, as well as mutation analysis of the essential promoter region and exons 20-24 (and surrounding intronic regions) coding for the protein-binding pocket domain. Methylation of the RB1 CpG island was detected in 26 samples corresponding to nine glioblastomas, three anaplastic astrocytomas, one mixed oligo-astrocytoma, one ependymoma, two medulloblastomas, two primary central nervous system lymphomas, two neurofibrosarcomas, and six brain metastasis from solid tumours. No inactivating mutations were found within the RB1 promoter region, whereas one glioblastoma and one oligodendroglioma displayed similar sequence variations consisting of 12 and 8 base pair deletions at intron 21. These results suggest that RB1 CpG island hypermethylation is a common epigenetic event that is associated with the development of malignant nervous system tumours.

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Related in: MedlinePlus

RB1 intron 21 mutation in one glioblastoma. A deletion of 12 bp, at position –16 to –27 of intron 21, was identified by sequencing. To the left is shown the SSCP analysis corresponding to the constitutional (N) and tumoural (T) DNAs (mobility shifts are indicated by arrows). Forward and reverse sequences corresponding to the tumour and constitutional DNA show the nucleotide changes.
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fig1: RB1 intron 21 mutation in one glioblastoma. A deletion of 12 bp, at position –16 to –27 of intron 21, was identified by sequencing. To the left is shown the SSCP analysis corresponding to the constitutional (N) and tumoural (T) DNAs (mobility shifts are indicated by arrows). Forward and reverse sequences corresponding to the tumour and constitutional DNA show the nucleotide changes.

Mentions: Protein-binding pocket domain. Only two tumours presented PCR-SSCP variations of the exons 20–24; they corresponded to one GB and one O displaying similar alterations. A mobility shift in the SSCP pattern of the PCR product for exon 22, which also includes the surrounding sequence for intron 21, was observed in both tumours (Figure 1Figure 1


CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.

Gonzalez-Gomez P, Bello MJ, Alonso ME, Arjona D, Lomas J, de Campos JM, Isla A, Rey JA - Br. J. Cancer (2003)

RB1 intron 21 mutation in one glioblastoma. A deletion of 12 bp, at position –16 to –27 of intron 21, was identified by sequencing. To the left is shown the SSCP analysis corresponding to the constitutional (N) and tumoural (T) DNAs (mobility shifts are indicated by arrows). Forward and reverse sequences corresponding to the tumour and constitutional DNA show the nucleotide changes.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2376780&req=5

fig1: RB1 intron 21 mutation in one glioblastoma. A deletion of 12 bp, at position –16 to –27 of intron 21, was identified by sequencing. To the left is shown the SSCP analysis corresponding to the constitutional (N) and tumoural (T) DNAs (mobility shifts are indicated by arrows). Forward and reverse sequences corresponding to the tumour and constitutional DNA show the nucleotide changes.
Mentions: Protein-binding pocket domain. Only two tumours presented PCR-SSCP variations of the exons 20–24; they corresponded to one GB and one O displaying similar alterations. A mobility shift in the SSCP pattern of the PCR product for exon 22, which also includes the surrounding sequence for intron 21, was observed in both tumours (Figure 1Figure 1

Bottom Line: Methylation of the RB1 CpG island was detected in 26 samples corresponding to nine glioblastomas, three anaplastic astrocytomas, one mixed oligo-astrocytoma, one ependymoma, two medulloblastomas, two primary central nervous system lymphomas, two neurofibrosarcomas, and six brain metastasis from solid tumours.No inactivating mutations were found within the RB1 promoter region, whereas one glioblastoma and one oligodendroglioma displayed similar sequence variations consisting of 12 and 8 base pair deletions at intron 21.These results suggest that RB1 CpG island hypermethylation is a common epigenetic event that is associated with the development of malignant nervous system tumours.

View Article: PubMed Central - PubMed

Affiliation: Departmento de C. Experimental, Laboratorio de Oncogenetica Molecular, Hospital Universitario La Paz, Madrid, Spain.

ABSTRACT
A series of 136 nervous system tumours were studied to determine the methylation status of the CpG island contained within the promoter region of the RB1 gene, as well as mutation analysis of the essential promoter region and exons 20-24 (and surrounding intronic regions) coding for the protein-binding pocket domain. Methylation of the RB1 CpG island was detected in 26 samples corresponding to nine glioblastomas, three anaplastic astrocytomas, one mixed oligo-astrocytoma, one ependymoma, two medulloblastomas, two primary central nervous system lymphomas, two neurofibrosarcomas, and six brain metastasis from solid tumours. No inactivating mutations were found within the RB1 promoter region, whereas one glioblastoma and one oligodendroglioma displayed similar sequence variations consisting of 12 and 8 base pair deletions at intron 21. These results suggest that RB1 CpG island hypermethylation is a common epigenetic event that is associated with the development of malignant nervous system tumours.

Show MeSH
Related in: MedlinePlus