An unusual p53 mutation detected in Burkitt´s lymphoma: 30 bp duplication
| Authors | |
|---|---|
| Year of publication | 2008 |
| Type | Article in Periodical |
| Magazine / Source | Oncology Reports |
| MU Faculty or unit | |
| Citation | |
| Field | Oncology and hematology |
| Keywords | Burkitt s lymphoma; p53 tumor suppressor; functional analysis of separated alleles in yeast; duplication |
| Description | We characterized aberrations of the p53 gene of a 53-year-old male suffering from Burkitts lymphoma. Immunoblotting showed a higher molecular weight of the p53 protein overexpressed in the tumor tissues than that of the standard p53 protein. Similarly, the molecular weight of the PCR product prepared by amplification of the tumor p53 cDNA was higher than that of the standard p53 cDNA. Functional analyses of separated alleles in yeast revealed that the tumor p53 protein was transcriptionally nonfunctional. The yeast colonies expressing this p53 variant were red with many white spots on their surface. Sequencing of the tumor cDNA revealed a duplication of the 30 bp region of the p53 gene (g.12155_12184dup30) leading to a repeat of 10 amino acids (Pro-77 to Ala-86) in the p53 protein. Further analyses showed that the mutation was unstable in yeast cells. The FISH analyses did not confer loss of the p53-specific locus 17p13. |
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