| Autor: |
Tosi, Gian Marco, Trimarchi, Carmela, Macaluso, Marcella, La Sala, Dario, Ciccodicola, Alfredo, Lazzi, Stefano, Massaro-Giordano, Mina, Caporossi, Aldo, Giordano, Antonio, Cinti, Caterina |
| Předmět: |
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| Zdroj: |
Oncogene; 9/1/2005, Vol. 24 Issue 38, p5827-5836, 10p |
| Abstrakt: |
Human retinoblastoma occurs in two forms (familial and sporadic) both due to biallelic mutation of the RB1/p105 gene even if its loss is insufficient for malignancy. We have recently reported that loss of expression of the retinoblastoma-related protein pRb2/p130 correlates with low apoptotic index, suggesting that RB2/p130 gene could be involved in retinoblastoma. Mutational analysis of RB2/p130 in primary tumors showed a tight correlation between Exon 1 mutations and pRb2/p130 expression level in sporadic retinoblastoma. These mutations are located within a CpG-enriched region prone to de novo methylation. Analysis of RB2/p130 methylation status revealed that epigenetic events, most probably consequent to the Exon 1 mutations, determined the observed phenotype. Treatment of Weri-Rb1 cell line by 5-Aza-dC induced an increase in expression level of pRb2/p130, E2F1, p73 and p53. Overall, our results highlight a crucial role of epigenetic events in sporadic retinoblastoma, which opens a perspective for new therapeutic approaches.Oncogene (2005) 24, 5827–5836. doi:10.1038/sj.onc.1208630; published online 20 June 2005 [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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