Candidate Genes of 6p Amplification in Retinoblastoma

Gains involving the short arm of chromosome 6 are a recurrent aberration in retinoblastoma. By CGH analysis, the minimum region was narrowed to chromosome band 6p22.3. Using QM-PCR, we have identified gains within this region in primary retinoblastomas and examined expression changes to identify target genes. Our data indicate that the minimal region of chromosomal imbalance in 6p22.3 is located between JMJ and RFP and includes the NUP153, KIF13A, TPMT, DEK, ID4, E2F3 and TTRAP genes. Copy number gains were most consistently identified in the region containing the DEK and E2F3 genes. E2F3 encodes a protein that…